Property Summary

NCBI Gene PubMed Count 40
Grant Count 9
R01 Count 7
Funding $557,655.14
PubMed Score 254.00
PubTator Score 232.87

Knowledge Summary

Patent

No data available

Expression

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.
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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.
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