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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 23618

FusionGeneSummary for NCKIPSD_SFMBT1

check button Fusion gene summary
Fusion gene informationFusion gene name: NCKIPSD_SFMBT1
Fusion gene ID: 23618
HgeneTgene
Gene symbol

NCKIPSD

SFMBT1

Gene ID

51517

51460

Gene nameNCK interacting protein with SH3 domainScm like with four mbt domains 1
SynonymsAF3P21|DIP|DIP1|ORF1|SPIN90|VIP54|WASLBP|WISHRU1|SFMBT|hSFMBT
Cytomap

3p21.31

3p21.1

Type of geneprotein-codingprotein-coding
DescriptionNCK-interacting protein with SH3 domain54 kDa VacA-interacting protein54 kDa vimentin-interacting protein90 kDa SH3 protein interacting with NckSH3 adapter protein SPIN90SH3 protein interacting with Nck, 90 kDaWASP-interacting SH3-domain proteindiascm-like with four MBT domains protein 1Scm-related gene containing four mbt domainsScm-related gene product containing four mbt domainsrenal ubiquitous protein 1
Modification date2018052220180519
UniProtAcc

Q9NZQ3

Q9UHJ3

Ensembl transtripts involved in fusion geneENST00000341520, ENST00000416649, 
ENST00000294129, 
ENST00000394752, 
ENST00000394750, ENST00000358080, 
ENST00000296295, ENST00000470575, 
Fusion gene scores* DoF score3 X 3 X 3=273 X 3 X 3=27
# samples 33
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: NCKIPSD [Title/Abstract] AND SFMBT1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneSFMBT1

GO:0045892

negative regulation of transcription, DNA-templated

23592795


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVTHYMTCGA-ZB-A969-01ANCKIPSDchr3

48723070

-SFMBT1chr3

52968917

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shitENST00000341520ENST00000394752NCKIPSDchr3

48723070

-SFMBT1chr3

52968917

-
Frame-shitENST00000341520ENST00000394750NCKIPSDchr3

48723070

-SFMBT1chr3

52968917

-
Frame-shitENST00000341520ENST00000358080NCKIPSDchr3

48723070

-SFMBT1chr3

52968917

-
Frame-shitENST00000341520ENST00000296295NCKIPSDchr3

48723070

-SFMBT1chr3

52968917

-
5CDS-intronENST00000341520ENST00000470575NCKIPSDchr3

48723070

-SFMBT1chr3

52968917

-
Frame-shitENST00000416649ENST00000394752NCKIPSDchr3

48723070

-SFMBT1chr3

52968917

-
Frame-shitENST00000416649ENST00000394750NCKIPSDchr3

48723070

-SFMBT1chr3

52968917

-
Frame-shitENST00000416649ENST00000358080NCKIPSDchr3

48723070

-SFMBT1chr3

52968917

-
Frame-shitENST00000416649ENST00000296295NCKIPSDchr3

48723070

-SFMBT1chr3

52968917

-
5CDS-intronENST00000416649ENST00000470575NCKIPSDchr3

48723070

-SFMBT1chr3

52968917

-
Frame-shitENST00000294129ENST00000394752NCKIPSDchr3

48723070

-SFMBT1chr3

52968917

-
Frame-shitENST00000294129ENST00000394750NCKIPSDchr3

48723070

-SFMBT1chr3

52968917

-
Frame-shitENST00000294129ENST00000358080NCKIPSDchr3

48723070

-SFMBT1chr3

52968917

-
Frame-shitENST00000294129ENST00000296295NCKIPSDchr3

48723070

-SFMBT1chr3

52968917

-
5CDS-intronENST00000294129ENST00000470575NCKIPSDchr3

48723070

-SFMBT1chr3

52968917

-

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FusionProtFeatures for NCKIPSD_SFMBT1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NCKIPSD

Q9NZQ3

SFMBT1

Q9UHJ3

Has an important role in stress fiber formation inducedby active diaphanous protein homolog 1 (DRF1). Induces microspikeformation, in vivo (By similarity). In vitro, stimulates N-WASP-induced ARP2/3 complex activation in the absence of CDC42 (Bysimilarity). May play an important role in the maintenance ofsarcomeres and/or in the assembly of myofibrils into sarcomeres.Implicated in regulation of actin polymerization and celladhesion. Plays a role in angiogenesis. {ECO:0000250,ECO:0000269|PubMed:22419821}. Histone-binding protein, which is part of variouscorepressor complexes. Mediates the recruitment of corepressorcomplexes to target genes, followed by chromatin compaction andrepression of transcription. Plays a role during myogenesis:required for the maintenance of undifferentiated states ofmyogenic progenitor cells via interaction with MYOD1. Interactionwith MYOD1 leads to the recruitment of associated corepressors andsilencing of MYOD1 target genes. Part of the SLC complex in germcells, where it may play a role during spermatogenesis.{ECO:0000269|PubMed:17599839, ECO:0000269|PubMed:23349461,ECO:0000269|PubMed:23592795}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for NCKIPSD_SFMBT1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for NCKIPSD_SFMBT1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
NCKIPSDDMRTB1, BAIAP2, NCK2, DIAPH3, GRB2, NCK1, STAC, KHDRBS1, FASLG, CRK, YWHAB, PSMD9, SORBS3, HSPB1, CNTROB, XPO1, CAPZA2, CSNK2A2, IQGAP1, FGFR1OP, LRIF1, SMC6, FCHSD1, ITSN2, PALLD, GAS7, ARHGEF6, GIT1, GIT2, ARHGEF7, ZFYVE9, PLCG1, ITSN1, RAB11FIP5, EPS15L1, GEMIN8, SNX33, RBM15, USP9Y, RBM15B, DACH1, GEMIN6, GEMIN2, CSNK1A1, JUN, ARMC8, PDCD2L, FBXO28SFMBT1PHC1, ACP1, PHC2, HIST1H3A, HIST1H4A, PSMA1, SRPK1, ZCCHC10, CLNK, KIF22, RBPJ, HDAC1, HMG20A


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for NCKIPSD_SFMBT1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for NCKIPSD_SFMBT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource