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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: 6163

FusionGeneSummary for CD2AP_SUPT3H

check button Fusion gene summary
Fusion gene informationFusion gene name: CD2AP_SUPT3H
Fusion gene ID: 6163
HgeneTgene
Gene symbol

CD2AP

SUPT3H

Gene ID

23607

8464

Gene nameCD2 associated proteinSPT3 homolog, SAGA and STAGA complex component
SynonymsCMSSPT3|SPT3L
Cytomap

6p12.3

6p21.1

Type of geneprotein-codingprotein-coding
DescriptionCD2-associated proteinCas ligand with multiple Src homology 3 (SH3) domainsadapter protein CMScas ligand with multiple SH3 domainstranscription initiation protein SPT3 homologSPT3-like proteinsuppressor of Ty 3 homolog
Modification date2018052220180523
UniProtAcc

Q9Y5K6

O75486

Ensembl transtripts involved in fusion geneENST00000359314, ENST00000486693, 
ENST00000371460, ENST00000371459, 
ENST00000371461, ENST00000306867, 
ENST00000371458, ENST00000459689, 
Fusion gene scores* DoF score13 X 6 X 10=78015 X 7 X 9=945
# samples 1315
** MAII scorelog2(13/780*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(15/945*10)=-2.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CD2AP [Title/Abstract] AND SUPT3H [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
TgeneSUPT3H

GO:0016578

histone deubiquitination

18206972

TgeneSUPT3H

GO:0043966

histone H3 acetylation

11564863


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
TCGARVLUADTCGA-55-1595-01ACD2APchr6

47501491

+SUPT3Hchr6

45073743

-
* 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-shitENST00000359314ENST00000371460CD2APchr6

47501491

+SUPT3Hchr6

45073743

-
Frame-shitENST00000359314ENST00000371459CD2APchr6

47501491

+SUPT3Hchr6

45073743

-
Frame-shitENST00000359314ENST00000371461CD2APchr6

47501491

+SUPT3Hchr6

45073743

-
Frame-shitENST00000359314ENST00000306867CD2APchr6

47501491

+SUPT3Hchr6

45073743

-
5CDS-intronENST00000359314ENST00000371458CD2APchr6

47501491

+SUPT3Hchr6

45073743

-
5CDS-intronENST00000359314ENST00000459689CD2APchr6

47501491

+SUPT3Hchr6

45073743

-
intron-3CDSENST00000486693ENST00000371460CD2APchr6

47501491

+SUPT3Hchr6

45073743

-
intron-3CDSENST00000486693ENST00000371459CD2APchr6

47501491

+SUPT3Hchr6

45073743

-
intron-3CDSENST00000486693ENST00000371461CD2APchr6

47501491

+SUPT3Hchr6

45073743

-
intron-3CDSENST00000486693ENST00000306867CD2APchr6

47501491

+SUPT3Hchr6

45073743

-
intron-intronENST00000486693ENST00000371458CD2APchr6

47501491

+SUPT3Hchr6

45073743

-
intron-intronENST00000486693ENST00000459689CD2APchr6

47501491

+SUPT3Hchr6

45073743

-

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FusionProtFeatures for CD2AP_SUPT3H


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CD2AP

Q9Y5K6

SUPT3H

O75486

Seems to act as an adapter protein between membraneproteins and the actin cytoskeleton (PubMed:10339567). Incollaboration with CBLC, modulates the rate of RET turnover andmay act as regulatory checkpoint that limits the potency of GDNFon neuronal survival. Controls CBLC function, converting it froman inhibitor to a promoter of RET degradation (By similarity). Mayplay a role in receptor clustering and cytoskeletal polarity inthe junction between T-cell and antigen-presenting cell (Bysimilarity). May anchor the podocyte slit diaphragm to the actincytoskeleton in renal glomerolus. Also required for cytokinesis(PubMed:15800069). Plays a role in epithelial cell junctionsformation (PubMed:22891260). {ECO:0000250|UniProtKB:F1LRS8,ECO:0000250|UniProtKB:Q9JLQ0, ECO:0000269|PubMed:10339567,ECO:0000269|PubMed:15800069, ECO:0000269|PubMed:22891260}. Probable transcriptional activator.{ECO:0000269|PubMed:9787080}.

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 CD2AP_SUPT3H


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 CD2AP_SUPT3H


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
CD2APRAB4A, CBL, CD2, CAPZA1, CD2AP, NPHS2, BCAR1, MVB12A, SH3KBP1, NPHS1, NR4A1, NR2C2, HBP1, HOXC11, KHDRBS1, BLNK, TRA, PDCD6IP, ACTC1, CBLB, CTTN, EGFR, SH3GL2, DNM2, TSG101, INPP5D, CAPZB, CBLC, ARHGAP17, CAPZA2, MORF4L1P2, SH3BP1, GRB2, NRAS, VCAM1, ITGA4, LMNA, PTGES3, UBC, GZMB, LOX, ARHGEF10, BRCC3, CCDC6, ELP2, SPAG9, HNRNPR, HUWE1, MTA2, NR3C1, IKBKAP, KIAA0196, KIAA1033, LARP7, NOLC1, NRBP1, RABEP2, TSC22D1, USP34, WDHD1, FRS3, UBE2I, SLC25A41, STAP1, TAS2R7, ASNS, CSTF2, DPH5, GALE, IMPDH2, MSN, NPLOC4, PFDN2, PPA2, PRDX6, SCPEP1, SEC24C, SEC24D, TTC27, UFD1L, ZYX, NIT1, MED4, RPGRIP1L, KIF23, ATP6AP2, RACGAP1, KIF15, NF2, CDH1, TCP10L, ARHGAP44, MRPL12, DACH2, SETX, UBE2ASUPT3HMYC, TAF4, TAF5, KAT2A, TAF10, TRRAP, TAF6L, TAF5L, TADA3, TADA1, SF3B3, SUPT7L, TAF9, TAF12, DDB1, DDB2, ATXN7L3, USP22, ATXN7, TP53, KAT2B, MED1, MED16, MED17, MED13, MED12, PYGO2, TADA2B, CCDC101, SAP130, TADA2A, TCF3, HIST3H3, SUPT20H, SSSCA1, TRIM25


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 CD2AP_SUPT3H


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 CD2AP_SUPT3H


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCD2APC0002395Alzheimer's Disease2CTD_human