Property Summary

NCBI Gene PubMed Count 40
PubMed Score 254.00
PubTator Score 232.87

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Hematologic cancer 9 0.0 1.0
Immune system cancer 38 0.0 1.0
Disease Target Count Z-score Confidence
Intellectual disability 573 0.0 4.0

Expression

  Differential Expression (16)

Gene RIF (31)

PMID Text
26202160 Data describe a new recurrent chromosome translocation, t(12;18)(q14-q15;q12-21), in lipomas and osteochondrolipoma resulting in HMGA2-SETBP1 fusion which suggest a close developmental relationship between the two tumor types.
25850813 The SETBP1 and ASXL1 mutations have pathogenetic roles in CSF3R-mutated chronic neutrophilic leukemia.
25716545 Correlation of myelodysplastic syndromes with i(17)(q10) and TP53 and SETBP1 mutations.
25663181 we described a patient not fulfilling the clinical criteria and showing mutation in SETBP1, we suggest that the facial gestalt associated with neurological involvement would be sufficient to indicate molecular analysis of this particular gene.
25553291 AML with RUNX1/RUNX1T1 rearrangement displayed c.2903C>T alteration in the mutational hotspot of SETBP1.
25395418 Mutations in SETBP1 are associated with juvenile myelomonocytic leukemia.
25316523 mutation analysis of CSF3R, SETBP1 and CALR should be included in the diagnostic criteria for chronic neutrophilic leukemia
25306901 SETBP1 mutations are critical drivers of ASXL1-mutated myelodysplastic syndrome.
24907359 Low frequency of SETBP1 mutations have been found in 106 patients with therapy-related myeloid neoplasms.
24796269 SETBP1 and SRSF2 are the most common somatic genetic abnormalities in patients with myeloid neoplasms carrying isochrmosome 17(q10), and may be important drivers of disease pathogenesis.
24695057 In univariate analysis, survival was adversely affected by ASXL1 (nonsense and frameshift) but not SETBP1 mutations for chronic myelomonocytic leukemia.
24359242 SETBP1 mutation might not be involved in the leukemogenisis of acute lymphoblastic leukemia
24127063 The SETBP1 mutation is associated with poor prognosis in MDS. The mutation can be acquired during the clinical course suggesting it may play a role in disease progression.
24117422 SETBP1 mutations were found in 4.8% of patients with JMML in this study.
23889083 The data suggest that SETBP1 mutations may play a role in myelodysplastic syndromes and chronic myelomonocytic leukaemia disease progression.
23832012 Somatic mutations of SETBP1 seem to cause gain of function, are associated with myeloid leukemic transformation and convey poor prognosis in myelodysplastic syndromes (MDS) and CMML.
23832011 Mutations of SETBP1 and JAK3 were common recurrent secondary events presumed to be involved in tumor progression and were associated with poor clinical outcomes.
23648668 SETBP1 mutation is associated with myelodysplastic syndromes and acute myeloid leukemia.
23628959 SETBP1 mutations represent an important novel molecular marker, which is highly associated with aCML, the MDS/MPN overlap category and a dysplastic phenotype.
23604229 CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia.
23558523 SETBP1 mutations are associated with chronic myelomonocytic leukemia.
23443343 In MDS and sAML, the rare mutations in SETBP1 might be associated with distinct cytogenetic aberrations involving chromosomes 3 and 7.
23222956 mutated SETBP1 represents a newly discovered oncogene present in Atypical chronic myeloid leukemia (aCML) and closely related diseases.
22333924 We describe a patient with a 18q12.3 microdeletion that causes the disruption of SETBP1 resulting in mild mental retardation and expressive speech impairment with striking discrepancy between expressive and receptive language skills.
21371013 study of 2 unrelated Thai patients with clinical manifestations fulfilling criteria of Schinzel-Giedion syndrome; demonstrate SETBP1 is gene responsible for SGS in Thai patients confirming previous report of this gene associated with SGS in Caucasians
21037274 Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20436468 We sequenced the exomes of four affected individuals (cases) and found heterozygous de novo variants in SETBP1 in all four
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
16582916 Correction of X-linked chronic granulomatous disease by gene therapy was augmented by insertional activation of SETBP1.

AA Sequence

MESRETLSSSRQRGGESDFLPVSSAKPPAAPGCAGEPLLSTPGPGKGIPVGGERMEPEEEDELGSGRDVD      1 - 70
SNSNADSEKWVAGDGLEEQEFSIKEANFTEGSLKLKIQTTKRAKKPPKNLENYICPPEIKITIKQSGDQK     71 - 140
VSRAGKNSKATKEEERSHSKKKLLTASDLAASDLKGFQPQAYERPQKHSTLHYDTGLPQDFTGDTLKPKH    141 - 210
QQKSSSQNHMDWSTNSDSGPVTQNCFISPESGRETASTSKIPALEPVASFAKAQGKKGSAGNTWSQLSNN    211 - 280
NKDLLLGGVAPSPSSHSSPAPPSSSAECNGLQPLVDQDGGGTKEPPEPPTVGSKKKSSKKDVISQTIPNP    281 - 350
DLDWVKNAQKAFDNTEGKREGYSADSAQEASPARQNVSSASNPENDSSHVRITIPIKAPSLDPTNHKRKK    351 - 420
RQSIKAVVEKIMPEKALASGITMSSEVVNRILSNSEGNKKDPRVPKLSKMIENESPSVGLETGGNAEKVI    421 - 490
PGGVSKPRKPPMVMTPPTCTDHSPSRKLPEIQHPKFAAKRRWTCSKPKPSTMLREAVMATSDKLMLEPPS    491 - 560
AYPITPSSPLYTNTDSLTVITPVKKKRGRPKKQPLLTVETIHEGTSTSPVSPISREFPGTKKRKRRRNLA    561 - 630
KLAQLVPGEDKPMSEMKFHKKVGKLGVLDKKTIKTINKMKTLKRKNILNQILSCSSSVALKAKAPPETSP    631 - 700
GAAAIESKLGKQINVSKRGTIYIGKKRGRKPRAELPPPSEEPKTAIKHPRPVSSQPDVPAVPSNFQSLVA    701 - 770
SSPAAMHPLSTQLGGSNGNLSPASTETNFSELKTMPNLQPISALPTKTQKGIHSGTWKLSPPRLMANSPS    771 - 840
HLCEIGSLKEITLSPVSESHSEETIPSDSGIGTDNNSTSDQAEKSSESRRRYSFDFCSLDNPEAIPSDTS    841 - 910
TKNRHGHRQKHLIVDNFLAHESLKKPKHKRKRKSLQNRDDLQFLADLEELITKFQVFRISHRSYTFYHEN    911 - 980
PYPSIFRINFDHYYPVPYIQYDPLLYLRRTSDLKSKKKRGRPAKTNDTMTKVPFLQGFSYPIPSGSYYAP    981 - 1050
YGMPYTSMPMMNLGYYGQYPAPLYLSHTLGAASPFMRPTVPPPQFHTNSHVKMSGAAKHKAKHGVHLQGP   1051 - 1120
VSMGLGDMQPSLNPPKVGSASLSSGRLHKRKHKHKHKHKEDRILGTHDNLSGLFAGKATGFSSHILSERL   1121 - 1190
SSADKELPLVSEKNKHKEKQKHQHSEAGHKASKNNFEVDTLSTLSLSDAQHWTQAKEKGDLSSEPVDSCT   1191 - 1260
KRYSGSGGDGGSTRSENLDVFSEMNPSNDKWDSDVSGSKRRSYEGFGTYREKDIQAFKMNRKERSSYDSS   1261 - 1330
MSPGMPSPHLKVDQTAVHSKNEGSVPTMMTRKKPAAVDSVTIPPAPVLSLLAASAATSDAVGSSLKKRFK   1331 - 1400
RREIEAIQCEVRKMCNYTKILSTKKNLDHVNKILKAKRLQRQSKTGNNFVKKRRGRPRKQPTQFDEDSRD   1401 - 1470
QMPVLEKCIDLPSKRGQKPSLSPLVLEPAASQDTIMATIEAVIHMAREAPPLPPPPPPPLPPPPPPPLPP   1471 - 1540
PPPLPKTPRGGKRKHKPQAPAQPPQQSPPQQPLPQEEEVKAKRQRKSRGSESEVLP                 1541 - 1596
//

Text Mined References (45)

PMID Year Title
26202160 2015 The recurrent chromosomal translocation t(12;18)(q14~15;q12~21) causes the fusion gene HMGA2-SETBP1 and HMGA2 expression in lipoma and osteochondrolipoma.
25850813 2015 ASXL1 mutations are frequent and prognostically detrimental in CSF3R-mutated chronic neutrophilic leukemia.
25716545 2015 Correlation of myelodysplastic syndromes with i(17)(q10) and TP53 and SETBP1 mutations.
25663181 2015 Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.
25553291 2015 Alteration of the SETBP1 gene and splicing pathway genes SF3B1, U2AF1, and SRSF2 in childhood acute myeloid leukemia.
25416956 2014 A proteome-scale map of the human interactome network.
25395418 2015 Subclonal mutations in SETBP1 confer a poor prognosis in juvenile myelomonocytic leukemia.
25316523 2014 CSF3R, SETBP1 and CALR mutations in chronic neutrophilic leukemia.
25306901 2015 SETBP1 mutations drive leukemic transformation in ASXL1-mutated MDS.
25217958 2014 Refining analyses of copy number variation identifies specific genes associated with developmental delay.
25035420 2014 Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians.
24907359 2014 SETBP1 mutations in 106 patients with therapy-related myeloid neoplasms.
24796269 2014 Clinicopathologic and molecular characterization of myeloid neoplasms harboring isochromosome 17(q10).
24695057 2014 ASXL1 and SETBP1 mutations and their prognostic contribution in chronic myelomonocytic leukemia: a two-center study of 466 patients.
24359242 2014 Rare occurrence of SET binding protein 1 mutation in patients with acute lymphoblastic leukemia, mixed phenotype acute leukemia and chronic myeloid leukemia in blast crisis.
24127063 2014 Clinical implications of the SETBP1 mutation in patients with primary myelodysplastic syndrome and its stability during disease progression.
24117422 2014 SETBP1 mutations in juvenile myelomonocytic leukaemia and myelodysplastic syndrome but not in paediatric acute myeloid leukaemia.
23889083 2013 Mutations in SETBP1 are recurrent in myelodysplastic syndromes and often coexist with cytogenetic markers associated with disease progression.
23832012 2013 Somatic SETBP1 mutations in myeloid malignancies.
23832011 2013 Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.
23648668 2013 SETBP1 mutation analysis in 944 patients with MDS and AML.
23628959 2013 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.
23604229 2013 CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia.
23558523 2013 SETBP1 mutations in 415 patients with primary myelofibrosis or chronic myelomonocytic leukemia: independent prognostic impact in CMML.
23443343 2013 SETBP1 mutations in 658 patients with myelodysplastic syndromes, chronic myelomonocytic leukemia and secondary acute myeloid leukemias.
23222956 2013 Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.
22693459 2012 Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases.
22333924 2012 372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment.
21371013 2011 SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome.
21037274 2011 Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20436468 2010 De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
16582916 2006 Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1.
16177791 2005 DNA sequence and analysis of human chromosome 18.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14718574 2004 The human plasma proteome: a nonredundant list developed by combination of four separate sources.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12168954 2002 Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.
11231286 2001 Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET.
9455477 1997 Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.