1、已知正比例函数过点（2,-6）,则Y=9时,X=_________2、已知函数Y=（m-1）x+ m的平方 -1是正比例函数,则m=_______
1 设该正比例函数为y= 由于过点（2,-6）,所以 -6=k乘以2,解得k=-3；所以该正比例函数是y=-3乘以x；当Y=9时,9=-3乘以x,所以x=-3；2 根据正比例函数的含义,有m-1不等于0,m的平方-1=0；所以m的平方=1；所以m=1或者m=-1；又由于要m-1不等于0,所以m=-1
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扫描下载二维码用解一元二次方程的方法求一元二次方程的根即可;设所求矩形的两边分别是和,由题意得方程组,消去化简再根据方程的判别式解答即可;同;由图可知,一次函数解析式为,反比例函数解析式为,组成方程组,消去求出方程的根,再根据一元二次方程根与系数的关系求出,的值即可.同理可求出满足条件的矩形的两边长.
解此方程得.和;设所求矩形的两边分别是和,由题意得方程组,消去化简得:,,不存在矩形.满足时,矩形存在.由题意得方程组,消去化简得:,.和.由图可知,一次函数解析式为,反比例函数解析式为,组成方程组得到,整理得,,,于是,得或,和.由题意知,解得,或.
总结:一元二次方程根的情况与判别式的关系及根与系数的关系:方程有两个不相等的实数根;方程有两个相等的实数根;方程没有实数根;若一元二次方程有实数根,则,.
3745@@3@@@@根的判别式@@@@@@248@@Math@@Junior@@$248@@2@@@@一元二次方程@@@@@@50@@Math@@Junior@@$50@@1@@@@方程与不等式@@@@@@7@@Math@@Junior@@$7@@0@@@@初中数学@@@@@@-1@@Math@@Junior@@$3789@@3@@@@一次函数的图象@@@@@@253@@Math@@Junior@@$253@@2@@@@一次函数@@@@@@51@@Math@@Junior@@$51@@1@@@@函数@@@@@@7@@Math@@Junior@@$7@@0@@@@初中数学@@@@@@-1@@Math@@Junior@@$3806@@3@@@@反比例函数的图象@@@@@@254@@Math@@Junior@@$254@@2@@@@反比例函数@@@@@@51@@Math@@Junior@@$51@@1@@@@函数@@@@@@7@@Math@@Junior@@$7@@0@@@@初中数学@@@@@@-1@@Math@@Junior@@
@@50@@7##@@51@@7##@@51@@7
第三大题，第5小题
第三大题，第7小题
求解答 学习搜索引擎 | 探索一个问题:"任意给定一个矩形A,是否存在另一个矩形B,它的周长和面积分别是已知矩形周长和面积的一半"(完成下列空格)(1)当已知矩形A的边长分别为6和1时,小亮同学是这样研究的:设所求矩形的两边分别是x和y,由题意得方程组:\left\{\begin{array}{ccc}x+y=\frac{7}{2}\\xy=3\end{array}\right.,消去y化简得:2{{x}^{2}}-7x+6=0,因为\Delta =49-48>0,所以{{x}_{1}}=___,{{x}_{2}}=___.所以满足要求的矩形B存在.(2)如果已知矩形A的边长分别为2和1,请你仿照小亮的方法研究是否存在满足要求的矩形B.(3)如果矩形A的边长为m和n,请你研究满足什么条件时,矩形B存在?(4)如图,在同一平面直角坐标系中画出了一次函数和反比例函数的部分图象,其中x和y分别表示矩形B的两边长,请你结合刚才的研究,回答下列问题:\textcircled{1}这个图象所研究的矩形A的两边长为___和___;\textcircled{2}满足条件的矩形B的两边长为___和___.已知y与x-1成反比例,并且x=6时,y=-3.(1)求y与x之间的函数解析式(2)求当x=4时,y的值(3)求当y=5,时,x的值
（1）设y=k/（x-1）将x=6,y=-3代入得-3=k/（6-1）解得k=-15y=-15/（x-1）（2）x=4时y=-15/（4-1）=-5（3）y=5时,有5=-15/（x-1）x=-2
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（1）y与x-1成反比例,y=k/(x-1)带入x=6 y=-3得-3=k/(6-1)得 k=-15所以y=-15/(x-1)（2）y=-15/(x-1)带入x=4得y=-15/(4-1)所以y=-5(3)y=-15/(x-1)带入y=5得5=-15/(x-1)所以x=-2
(1)y=a/(x-1)
y=-3 a=-15
y=-15/(x-1)(2) y=-15/(x-1) x=4 y=5(3) y=-15/(x-1) y=5 x=4
怎么来的？
分别带人x和y撒
前面几位的回答是正确的哦
扫描下载二维码Protein knowledgebaseSequence archiveHelp pages, FAQs, UniProtKB manual, documents, news archive and Biocuration projects.Sequence clustersProtein sets from fully sequenced genomesAnnotation systemsSystems used to automatically annotate proteins with high accuracy:Supporting dataSelect one of the options below to target your search:SET-binding proteinSETBP1Homo sapiens (Human)-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveliFunctioniRegionsFeature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActionsDNA bindingi13A.T hook 1DNA bindingi13A.T hook 2DNA bindingi13A.T hook 3GO - Molecular functioniKeywords - LigandiEnzyme and pathway databases
SIGNORi Names & TaxonomyiProtein namesiRecommended name:SET-binding proteinShort name: SEBGene namesiName:Synonyms:KIAA0437OrganismiTaxonomic identifieri
[]Taxonomic lineagei &
Proteomesi Componenti: Chromosome 18 Organism-specific databases
HGNCi SETBP1. Subcellular locationi "Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET.", , , , , ,
[] [] []Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF
(ISOFORM 1), INTERACTION WITH SET, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT ILE-1101. GO - Cellular componentiKeywords - Cellular componentiPathology & BiotechiInvolvement in diseaseiThe disease is caused by mutations affecting the gene represented in this entry.Disease descriptionA disorder characterized by severe mental retardation, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, cardiac defects, as well as a higher-than-normal prevalence of tumors, notably neuroepithelial neoplasia.Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActionsNatural varianti1 in SGMFS. "De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS SGMFS ASN-868; ALA-868; ASP-870; SER-870 AND THR-871. VAR_063806Natural varianti1 in SGMFS, ACML, JMML and MDS; also found in other
somatic mutation. "De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS SGMFS ASN-868; ALA-868; ASP-870; SER-870 AND THR-871. "SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.", , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869; SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908. "SETBP1 mutation analysis in 944 patients with MDS and AML. Hannover, Germany.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS AML ALA-854 AND SER-870, VARIANTS MDS ASN-868; ASN-869 AND SER-870. "Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS ACML LYS-858; ASN-868; SER-870 AND THR-871, VARIANTS HIS-1321 AND LEU-1377, CHARACTERIZATION OF VARIANT ACML SER-870. "Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANT JMML ASN-868. "Somatic SETBP1 mutations in myeloid malignancies.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES ASN-868; TYR-868; ASN-869; ALA-880 AND GLU-880, TISSUE SPECIFICITY. VAR_063807Natural varianti1 in SGMFS. "De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS SGMFS ASN-868; ALA-868; ASP-870; SER-870 AND THR-871. "SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.", , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869; SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908. VAR_063808Natural varianti1 in SGMFS, ACML, MDS and AML; somatic mutation in ACML and other
results in h cells expressing this mutant exhibit higher proliferation rates than those expressing the wild-type protein. "De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS SGMFS ASN-868; ALA-868; ASP-870; SER-870 AND THR-871. "SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.", , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869; SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908. "SETBP1 mutation analysis in 944 patients with MDS and AML. Hannover, Germany.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS AML ALA-854 AND SER-870, VARIANTS MDS ASN-868; ASN-869 AND SER-870. "Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS ACML LYS-858; ASN-868; SER-870 AND THR-871, VARIANTS HIS-1321 AND LEU-1377, CHARACTERIZATION OF VARIANT ACML SER-870. VAR_063809Natural varianti1 in SGMFS and ACML; somatic mutation in ACML and other myeloid malignancies. "De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS SGMFS ASN-868; ALA-868; ASP-870; SER-870 AND THR-871. "SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.", , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869; SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908. "Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS ACML LYS-858; ASN-868; SER-870 AND THR-871, VARIANTS HIS-1321 AND LEU-1377, CHARACTERIZATION OF VARIANT ACML SER-870. VAR_063810SETBP1 somatic mutations are frequently found in myeloid malignancies. They cause gain of function associated with myeloid leukemic transformation (PubMed:). Myeloid malignancies are separated into three main categories: myeloproliferative neoplasms (MPN) characterized by cellular proliferation of one or more hematologic cell lines in the peripheral blood, myelodysplastic syndromes (MDS) and MDS/MPN. The MDS/MPN category shows overlapping characteristics of both MDS and MPN and includes chronic myelomonocytic leukemia (CMML), juvenile myelomonocytic leukemia, atypical chronic myeloid leukemia (ACML) and unclassified MDS/MPN (PubMed:).The gene represented in this entry is involved in disease pathogenesis.Disease descriptionA heterogeneous group of closely related clonal hematopoietic disorders. All are characterized by a hypercellular or hypocellular bone marrow with impaired morphology and maturation, dysplasia of the myeloid, megakaryocytic and/or erythroid lineages, and peripheral blood cytopenias resulting from ineffective blood cell production. Included diseases are: refractory anemia (RA), refractory anemia with ringed sideroblasts (RARS), refractory anemia with excess blasts (RAEB), refractory cytopenia with multilineage dysplasia and ringed sideroblasts (RCMD-RS); chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative disease. MDS is considered a premalignant condition in a subgroup of patients that often progresses to acute myeloid leukemia (AML).Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActionsNatural varianti1 in SGMFS, ACML, JMML and MDS; also found in other
somatic mutation. "De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS SGMFS ASN-868; ALA-868; ASP-870; SER-870 AND THR-871. "SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.", , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869; SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908. "SETBP1 mutation analysis in 944 patients with MDS and AML. Hannover, Germany.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS AML ALA-854 AND SER-870, VARIANTS MDS ASN-868; ASN-869 AND SER-870. "Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS ACML LYS-858; ASN-868; SER-870 AND THR-871, VARIANTS HIS-1321 AND LEU-1377, CHARACTERIZATION OF VARIANT ACML SER-870. "Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANT JMML ASN-868. "Somatic SETBP1 mutations in myeloid malignancies.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES ASN-868; TYR-868; ASN-869; ALA-880 AND GLU-880, TISSUE SPECIFICITY. VAR_063807Natural varianti1 in MDS and myeloid malignancies. "SETBP1 mutation analysis in 944 patients with MDS and AML. Hannover, Germany.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS AML ALA-854 AND SER-870, VARIANTS MDS ASN-868; ASN-869 AND SER-870. "Somatic SETBP1 mutations in myeloid malignancies.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES ASN-868; TYR-868; ASN-869; ALA-880 AND GLU-880, TISSUE SPECIFICITY. VAR_069852Natural varianti1 in SGMFS, ACML, MDS and AML; somatic mutation in ACML and other
results in h cells expressing this mutant exhibit higher proliferation rates than those expressing the wild-type protein. "De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS SGMFS ASN-868; ALA-868; ASP-870; SER-870 AND THR-871. "SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.", , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869; SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908. "SETBP1 mutation analysis in 944 patients with MDS and AML. Hannover, Germany.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS AML ALA-854 AND SER-870, VARIANTS MDS ASN-868; ASN-869 AND SER-870. "Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS ACML LYS-858; ASN-868; SER-870 AND THR-871, VARIANTS HIS-1321 AND LEU-1377, CHARACTERIZATION OF VARIANT ACML SER-870. VAR_063809Natural varianti1 in MDS and myeloid malignancies. "Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.", , , , , , , , , ,
[] [] []Cited for: VARIANT MDS ARG-873, VARIANTS AML ARG-870 AND SER-871. "SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.", , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869; SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908. VAR_069857The disease is caused by mutations affecting the gene represented in this entry.Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD29 patients manifest severe intellectual disability, behavioral difficulties, speech and motor delays, and dysmorphic facial features.The gene represented in this entry is involved in disease pathogenesis.Disease descriptionA subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes.Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActionsNatural varianti1 in AML. "SETBP1 mutation analysis in 944 patients with MDS and AML. Hannover, Germany.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS AML ALA-854 AND SER-870, VARIANTS MDS ASN-868; ASN-869 AND SER-870. VAR_069848Natural varianti1 in AML. "Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.", , , , , , , , , ,
[] [] []Cited for: VARIANT MDS ARG-873, VARIANTS AML ARG-870 AND SER-871. VAR_069854Natural varianti1 in SGMFS, ACML, MDS and AML; somatic mutation in ACML and other
results in h cells expressing this mutant exhibit higher proliferation rates than those expressing the wild-type protein. "De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS SGMFS ASN-868; ALA-868; ASP-870; SER-870 AND THR-871. "SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.", , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869; SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908. "SETBP1 mutation analysis in 944 patients with MDS and AML. Hannover, Germany.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS AML ALA-854 AND SER-870, VARIANTS MDS ASN-868; ASN-869 AND SER-870. "Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS ACML LYS-858; ASN-868; SER-870 AND THR-871, VARIANTS HIS-1321 AND LEU-1377, CHARACTERIZATION OF VARIANT ACML SER-870. VAR_063809Natural varianti1 in AML. "Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.", , , , , , , , , ,
[] [] []Cited for: VARIANT MDS ARG-873, VARIANTS AML ARG-870 AND SER-871. VAR_069856The gene represented in this entry is involved in disease pathogenesis.Disease descriptionA myeloproliferative disorder that shares clinical and laboratory features with chronic myeloid leukemia but lacks the pathognomonic Philadelphia chromosome and the corresponding BCR/ABL1 fusion transcript. Features include myeloid predominance in the bone marrow, myeloid proliferation and low leukocyte alkaline phosphatase value, splenomegaly, hepatomegaly, elevated white blood cell count. Enlarged spleen may also be associated with a hypermetabolic state, fever, weight loss, and chronic fatigue. The enlarged liver may contribute to the patient's weight loss.Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActionsNatural varianti1 in ACML; somatic mutation in ACML and other myeloid malignancies. "SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.", , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869; SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908. "Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS ACML LYS-858; ASN-868; SER-870 AND THR-871, VARIANTS HIS-1321 AND LEU-1377, CHARACTERIZATION OF VARIANT ACML SER-870. VAR_069849Natural varianti1 in SGMFS, ACML, JMML and MDS; also found in other
somatic mutation. "De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS SGMFS ASN-868; ALA-868; ASP-870; SER-870 AND THR-871. "SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.", , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869; SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908. "SETBP1 mutation analysis in 944 patients with MDS and AML. Hannover, Germany.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS AML ALA-854 AND SER-870, VARIANTS MDS ASN-868; ASN-869 AND SER-870. "Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS ACML LYS-858; ASN-868; SER-870 AND THR-871, VARIANTS HIS-1321 AND LEU-1377, CHARACTERIZATION OF VARIANT ACML SER-870. "Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANT JMML ASN-868. "Somatic SETBP1 mutations in myeloid malignancies.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES ASN-868; TYR-868; ASN-869; ALA-880 AND GLU-880, TISSUE SPECIFICITY. VAR_063807Natural varianti1 in SGMFS, ACML, MDS and AML; somatic mutation in ACML and other
results in h cells expressing this mutant exhibit higher proliferation rates than those expressing the wild-type protein. "De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS SGMFS ASN-868; ALA-868; ASP-870; SER-870 AND THR-871. "SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.", , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869; SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908. "SETBP1 mutation analysis in 944 patients with MDS and AML. Hannover, Germany.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS AML ALA-854 AND SER-870, VARIANTS MDS ASN-868; ASN-869 AND SER-870. "Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS ACML LYS-858; ASN-868; SER-870 AND THR-871, VARIANTS HIS-1321 AND LEU-1377, CHARACTERIZATION OF VARIANT ACML SER-870. VAR_063809Natural varianti1 in SGMFS and ACML; somatic mutation in ACML and other myeloid malignancies. "De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS SGMFS ASN-868; ALA-868; ASP-870; SER-870 AND THR-871. "SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.", , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869; SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908. "Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS ACML LYS-858; ASN-868; SER-870 AND THR-871, VARIANTS HIS-1321 AND LEU-1377, CHARACTERIZATION OF VARIANT ACML SER-870. VAR_063810The gene represented in this entry is involved in disease pathogenesis.Disease descriptionAn aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages.Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActionsNatural varianti1 in SGMFS, ACML, JMML and MDS; also found in other
somatic mutation. "De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS SGMFS ASN-868; ALA-868; ASP-870; SER-870 AND THR-871. "SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.", , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869; SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908. "SETBP1 mutation analysis in 944 patients with MDS and AML. Hannover, Germany.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS AML ALA-854 AND SER-870, VARIANTS MDS ASN-868; ASN-869 AND SER-870. "Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS ACML LYS-858; ASN-868; SER-870 AND THR-871, VARIANTS HIS-1321 AND LEU-1377, CHARACTERIZATION OF VARIANT ACML SER-870. "Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANT JMML ASN-868. "Somatic SETBP1 mutations in myeloid malignancies.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES ASN-868; TYR-868; ASN-869; ALA-880 AND GLU-880, TISSUE SPECIFICITY. VAR_063807Keywords - Diseasei, Organism-specific databases
MalaCardsi
MIMi phenotype.
phenotype.
phenotype.
phenotype.
phenotype.
phenotype.
Orphaneti Schinzel-Giedion syndrome.
PharmGKBi Polymorphism and mutation databases
DMDMi PTM / ProcessingiMolecule processingFeature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActionsChaini1596SET-binding proteinPRO_Amino acid modificationsFeature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActionsModified residuei1N6-acetyllysineKeywords - PTMiProteomic databases
PRIDEi PTM databases
PhosphoSitei ExpressioniTissue specificityiExpressed in numerous tissues. Expressed at low levels in myeloid and monocytic cells as well as in CD34+ expression levels are higher in myeloid malignancies."Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET.", , , , , ,
[] [] []Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF
(ISOFORM 1), INTERACTION WITH SET, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT ILE-1101. "Somatic SETBP1 mutations in myeloid malignancies.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES ASN-868; TYR-868; ASN-869; ALA-880 AND GLU-880, TISSUE SPECIFICITY. Gene expression databases
ExpressionAtlasi baseline and differential.
Genevisiblei HS. Organism-specific databases
InteractioniSubunit structureiInteracts with SET."Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET.", , , , , ,
[] [] []Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF
(ISOFORM 1), INTERACTION WITH SET, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT ILE-1101. Binary interactionsiWithEntry#Exp.IntActNotes3KIAA11473PLEKHF23SPANXA23SPANXC3SPANXD3UBE2I3XAGE1E3YAF23Protein-protein interaction databases
BioGridi 14 interactions.
IntActi 11 interactions.
STRINGi Structurei3D structure databases
ProteinModelPortali
MobiDBiFamily & DomainsiDomains and RepeatsFeature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActionsRepeati81Repeati82Repeati83RegionFeature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActionsRegioni243 X 8 AA tandem repeats of P-P-L-P-P-P-P-PSequence similaritiesiContains 3 s.Keywords - DomainiPhylogenomic databases
eggNOGi Eukaryota.
InParanoidi
PhylomeDBi
TreeFami Family and domain databases
InterProi AT_hook_DNA-bd_motif.
SMARTi AT_hook. 3 hits.
[]Sequences (2)iSequence statusi: Complete.This entry describes 2 isoformsi produced by alternative splicing.
(identifier: Q9Y6X0-1)
[]This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
50MESRETLSSS RQRGGESDFL PVSSAKPPAA PGCAGEPLLS TPGPGKGIPV
100GGERMEPEEE DELGSGRDVD SNSNADSEKW VAGDGLEEQE FSIKEANFTE
150GSLKLKIQTT KRAKKPPKNL ENYICPPEIK ITIKQSGDQK VSRAGKNSKA
200TKEEERSHSK KKLLTASDLA ASDLKGFQPQ AYERPQKHST LHYDTGLPQD
250FTGDTLKPKH QQKSSSQNHM DWSTNSDSGP VTQNCFISPE SGRETASTSK
300IPALEPVASF AKAQGKKGSA GNTWSQLSNN NKDLLLGGVA PSPSSHSSPA
350PPSSSAECNG LQPLVDQDGG GTKEPPEPPT VGSKKKSSKK DVISQTIPNP
400DLDWVKNAQK AFDNTEGKRE GYSADSAQEA SPARQNVSSA SNPENDSSHV
450RITIPIKAPS LDPTNHKRKK RQSIKAVVEK IMPEKALASG ITMSSEVVNR
500ILSNSEGNKK DPRVPKLSKM IENESPSVGL ETGGNAEKVI PGGVSKPRKP
550PMVMTPPTCT DHSPSRKLPE IQHPKFAAKR RWTCSKPKPS TMLREAVMAT
600SDKLMLEPPS AYPITPSSPL YTNTDSLTVI TPVKKKRGRP KKQPLLTVET
650IHEGTSTSPV SPISREFPGT KKRKRRRNLA KLAQLVPGED KPMSEMKFHK
700KVGKLGVLDK KTIKTINKMK TLKRKNILNQ ILSCSSSVAL KAKAPPETSP
750GAAAIESKLG KQINVSKRGT IYIGKKRGRK PRAELPPPSE EPKTAIKHPR
800PVSSQPDVPA VPSNFQSLVA SSPAAMHPLS TQLGGSNGNL SPASTETNFS
850ELKTMPNLQP ISALPTKTQK GIHSGTWKLS PPRLMANSPS HLCEIGSLKE
900ITLSPVSESH SEETIPSDSG IGTDNNSTSD QAEKSSESRR RYSFDFCSLD
950NPEAIPSDTS TKNRHGHRQK HLIVDNFLAH ESLKKPKHKR KRKSLQNRDD
1000LQFLADLEEL ITKFQVFRIS HRSYTFYHEN PYPSIFRINF DHYYPVPYIQ
1050YDPLLYLRRT SDLKSKKKRG RPAKTNDTMT KVPFLQGFSY PIPSGSYYAP
1100YGMPYTSMPM MNLGYYGQYP APLYLSHTLG AASPFMRPTV PPPQFHTNSH
1150VKMSGAAKHK AKHGVHLQGP VSMGLGDMQP SLNPPKVGSA SLSSGRLHKR
1200KHKHKHKHKE DRILGTHDNL SGLFAGKATG FSSHILSERL SSADKELPLV
1250SEKNKHKEKQ KHQHSEAGHK ASKNNFEVDT LSTLSLSDAQ HWTQAKEKGD
1300LSSEPVDSCT KRYSGSGGDG GSTRSENLDV FSEMNPSNDK WDSDVSGSKR
1350RSYEGFGTYR EKDIQAFKMN RKERSSYDSS MSPGMPSPHL KVDQTAVHSK
1400NEGSVPTMMT RKKPAAVDSV TIPPAPVLSL LAASAATSDA VGSSLKKRFK
1450RREIEAIQCE VRKMCNYTKI LSTKKNLDHV NKILKAKRLQ RQSKTGNNFV
1500KKRRGRPRKQ PTQFDEDSRD QMPVLEKCID LPSKRGQKPS LSPLVLEPAA
1550SQDTIMATIE AVIHMAREAP PLPPPPPPPL PPPPPPPLPP PPPLPKTPRG
1590 GKRKHKPQAP AQPPQQSPPQ QPLPQEEEVK AKRQRKSRGS ESEVLP 1,596175,008April 20, 2010 - v3Checksum:i466A6E0A1A8EEF41BLASTProtParamProtScaleCompute pI/MWPeptideMassPeptideCutter (identifier: Q9Y6X0-2)
[]The sequence of this isoform differs from the canonical sequence as follows:&&&&&: AYERPQKHST...QNCFISPESG&&&IKDSSKEEVW...SEPAVWAQEV&&&&&: Missing.Note: No experimental confirmation available.&24226,397Checksum:iCFF9310BLASTProtParamProtScaleCompute pI/MWPeptideMassPeptideCutterSequence cautioniThe sequence
differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.The sequence
differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.The sequence
differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Natural variantFeature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActionsNatural varianti1.Corresponds to variant rs [
].VAR_024347Natural varianti1 in AML. "SETBP1 mutation analysis in 944 patients with MDS and AML. Hannover, Germany.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS AML ALA-854 AND SER-870, VARIANTS MDS ASN-868; ASN-869 AND SER-870. VAR_069848Natural varianti1 in ACML; somatic mutation in ACML and other myeloid malignancies. "SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.", , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869; SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908. "Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS ACML LYS-858; ASN-868; SER-870 AND THR-871, VARIANTS HIS-1321 AND LEU-1377, CHARACTERIZATION OF VARIANT ACML SER-870. VAR_069849Natural varianti1 in SGMFS. "De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS SGMFS ASN-868; ALA-868; ASP-870; SER-870 AND THR-871. VAR_063806Natural varianti1 in myeloid malignancies. "SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.", , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869; SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908. VAR_069850Natural varianti1 in SGMFS, ACML, JMML and MDS; also found in other
somatic mutation. "De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS SGMFS ASN-868; ALA-868; ASP-870; SER-870 AND THR-871. "SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.", , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869; SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908. "SETBP1 mutation analysis in 944 patients with MDS and AML. Hannover, Germany.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS AML ALA-854 AND SER-870, VARIANTS MDS ASN-868; ASN-869 AND SER-870. "Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS ACML LYS-858; ASN-868; SER-870 AND THR-871, VARIANTS HIS-1321 AND LEU-1377, CHARACTERIZATION OF VARIANT ACML SER-870. "Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANT JMML ASN-868. "Somatic SETBP1 mutations in myeloid malignancies.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES ASN-868; TYR-868; ASN-869; ALA-880 AND GLU-880, TISSUE SPECIFICITY. VAR_063807Natural varianti1 in myeloid malignancies. "SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.", , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869; SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908. "Somatic SETBP1 mutations in myeloid malignancies.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES ASN-868; TYR-868; ASN-869; ALA-880 AND GLU-880, TISSUE SPECIFICITY. VAR_069851Natural varianti1 in MDS and myeloid malignancies. "SETBP1 mutation analysis in 944 patients with MDS and AML. Hannover, Germany.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS AML ALA-854 AND SER-870, VARIANTS MDS ASN-868; ASN-869 AND SER-870. "Somatic SETBP1 mutations in myeloid malignancies.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES ASN-868; TYR-868; ASN-869; ALA-880 AND GLU-880, TISSUE SPECIFICITY. VAR_069852Natural varianti1 in myeloid malignancies. "SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.", , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869; SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908. VAR_069853Natural varianti1 in SGMFS. "De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS SGMFS ASN-868; ALA-868; ASP-870; SER-870 AND THR-871. "SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.", , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869; SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908. VAR_063808Natural varianti1 in AML. "Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.", , , , , , , , , ,
[] [] []Cited for: VARIANT MDS ARG-873, VARIANTS AML ARG-870 AND SER-871. VAR_069854Natural varianti1 in SGMFS, ACML, MDS and AML; somatic mutation in ACML and other
results in h cells expressing this mutant exhibit higher proliferation rates than those expressing the wild-type protein. "De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS SGMFS ASN-868; ALA-868; ASP-870; SER-870 AND THR-871. "SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.", , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869; SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908. "SETBP1 mutation analysis in 944 patients with MDS and AML. Hannover, Germany.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS AML ALA-854 AND SER-870, VARIANTS MDS ASN-868; ASN-869 AND SER-870. "Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS ACML LYS-858; ASN-868; SER-870 AND THR-871, VARIANTS HIS-1321 AND LEU-1377, CHARACTERIZATION OF VARIANT ACML SER-870. VAR_063809Natural varianti1 in myeloid malignancies. "SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.", , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869; SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908. VAR_069855Natural varianti1 in AML. "Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.", , , , , , , , , ,
[] [] []Cited for: VARIANT MDS ARG-873, VARIANTS AML ARG-870 AND SER-871. VAR_069856Natural varianti1 in SGMFS and ACML; somatic mutation in ACML and other myeloid malignancies. "De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS SGMFS ASN-868; ALA-868; ASP-870; SER-870 AND THR-871. "SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.", , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869; SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908. "Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS ACML LYS-858; ASN-868; SER-870 AND THR-871, VARIANTS HIS-1321 AND LEU-1377, CHARACTERIZATION OF VARIANT ACML SER-870. VAR_063810Natural varianti1 in MDS and myeloid malignancies. "Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.", , , , , , , , , ,
[] [] []Cited for: VARIANT MDS ARG-873, VARIANTS AML ARG-870 AND SER-871. "SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.", , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869; SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908. VAR_069857Natural varianti1 in myeloid malignancies. "SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.", , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869; SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908. VAR_069858Natural varianti1 in myeloid malignancies. "Somatic SETBP1 mutations in myeloid malignancies.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES ASN-868; TYR-868; ASN-869; ALA-880 AND GLU-880, TISSUE SPECIFICITY. VAR_069859Natural varianti1 in myeloid malignancies. "Somatic SETBP1 mutations in myeloid malignancies.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES ASN-868; TYR-868; ASN-869; ALA-880 AND GLU-880, TISSUE SPECIFICITY. VAR_069860Natural varianti1 in myeloid malignancies. VAR_069861Natural varianti1 in myeloid malignancies. "SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.", , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869; SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908. VAR_069862Natural varianti1."Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro.", , , , , , , , ,
[] [] []Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ILE-1101. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
[] [] []Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT ILE-1101. "Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET.", , , , , ,
[] [] []Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF
(ISOFORM 1), INTERACTION WITH SET, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT ILE-1101. Corresponds to variant rs3744825 [
].VAR_054646Natural varianti1.Corresponds to variant rs1064204 [
].VAR_020317Natural varianti1 in a colo somatic mutation. "The consensus coding sequences of human breast and colorectal cancers.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANT [LARGE SCALE ANALYSIS] TRP-1162. VAR_035987Natural varianti1."Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS ACML LYS-858; ASN-868; SER-870 AND THR-871, VARIANTS HIS-1321 AND LEU-1377, CHARACTERIZATION OF VARIANT ACML SER-870. Corresponds to variant rs [
].VAR_069863Natural varianti1."Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS ACML LYS-858; ASN-868; SER-870 AND THR-871, VARIANTS HIS-1321 AND LEU-1377, CHARACTERIZATION OF VARIANT ACML SER-870. Corresponds to variant rs [
].VAR_069864Alternative sequenceFeature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActionsAlternative sequencei62AYERP&SPESG & IKDSSKEEVWKRRGGQGIPF KKQFLSQERAMCFSCPRNPF PAKPGSLTLPFHSEPAVWAQ EV in isoform . "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
[] [] []Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT ILE-1101. VSP_039060Alternative sequencei1354Missing
in isoform . "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
[] [] []Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT ILE-1101. VSP_039061Sequence databases
Select the link destinations:EMBLiGenBankiDDBJi mRNA. Translation: .
Different initiation. Genomic DNA. No translation available. Genomic DNA. No translation available. Genomic DNA. No translation available. Genomic DNA. No translation available. Genomic DNA. No translation available. mRNA. Translation: . mRNA. Translation: .
Different initiation. mRNA. Translation: .
Different initiation.
UniGenei Genome annotation databases
Ensembli; ; .
UCSCi human.
[]Keywords - Coding sequence diversityi, Cross-referencesiWeb resourcesiSequence databases
Select the link destinations:EMBLiGenBankiDDBJi mRNA. Translation: .
Different initiation. Genomic DNA. No translation available. Genomic DNA. No translation available. Genomic DNA. No translation available. Genomic DNA. No translation available. Genomic DNA. No translation available. mRNA. Translation: . mRNA. Translation: .
Different initiation. mRNA. Translation: .
Different initiation.
UniGenei 3D structure databases
ProteinModelPortali
MobiDBiProtein-protein interaction databases
BioGridi 14 interactions.
IntActi 11 interactions.
STRINGi PTM databases
PhosphoSitei Polymorphism and mutation databases
DMDMi Proteomic databases
PRIDEi Protocols and materials databases
Structural Biology KnowledgebaseGenome annotation databases
Ensembli; ; .
UCSCi human.
[]Organism-specific databases
GeneCardsi
HGNCi SETBP1.
MalaCardsi
MIMi phenotype.
phenotype.
phenotype.
phenotype.
phenotype.
phenotype.
Orphaneti Schinzel-Giedion syndrome.
GenAtlasiPhylogenomic databases
eggNOGi Eukaryota.
InParanoidi
PhylomeDBi
TreeFami Enzyme and pathway databases
SIGNORi Miscellaneous databases
ChiTaRSi human.
GenomeRNAii
SOURCEiGene expression databases
ExpressionAtlasi baseline and differential.
Genevisiblei HS. Family and domain databases
InterProi AT_hook_DNA-bd_motif.
SMARTi AT_hook. 3 hits.
ProtoNetiPublicationsi"Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro.", , , , , , , , ,
[] [] []Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ILE-1101. Tissue: . "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.", , , , ,
[] [] []Cited for: SEQUENCE REVISION. "DNA sequence and analysis of human chromosome 18.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
[] [] []Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT ILE-1101. Tissue: . "Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET.", , , , , ,
[] [] []Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF
(ISOFORM 1), INTERACTION WITH SET, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT ILE-1101. Tissue: . "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.", , , , , , ,
[] [] []Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: . "Refining analyses of copy number variation identifies specific genes associated with developmental delay.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: INVOLVEMENT IN MRD29. "The consensus coding sequences of human breast and colorectal cancers.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANT [LARGE SCALE ANALYSIS] TRP-1162. "De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS SGMFS ASN-868; ALA-868; ASP-870; SER-870 AND THR-871. "Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.", , , , , , , , , ,
[] [] []Cited for: VARIANT MDS ARG-873, VARIANTS AML ARG-870 AND SER-871. "SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations.", , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES LYS-858; ASN-868; TYR-868; GLY-868; ARG-869; SER-870; ASP-870; VAL-870; THR-871; ARG-873; ASN-874 AND ASN-908. "SETBP1 mutation analysis in 944 patients with MDS and AML. Hannover, Germany.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS AML ALA-854 AND SER-870, VARIANTS MDS ASN-868; ASN-869 AND SER-870. "Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS ACML LYS-858; ASN-868; SER-870 AND THR-871, VARIANTS HIS-1321 AND LEU-1377, CHARACTERIZATION OF VARIANT ACML SER-870. "Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANT JMML ASN-868. "Somatic SETBP1 mutations in myeloid malignancies.", , , , , , , , , , , , , , , , ,
[] [] []Cited for: VARIANTS MYELOID MALIGNANCIES ASN-868; TYR-868; ASN-869; ALA-880 AND GLU-880, TISSUE SPECIFICITY. +MiscellaneousiKeywords - Technical termi, Documents
Human chromosome 18: entries, gene names and cross-references to MIM
List of human entries with polymorphisms or disease mutations
Index of human polymorphisms and disease mutations
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
Index of protein domains and families
Similar proteinsiLinks to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.