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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: 37129

FusionGeneSummary for TAF8_COL5A3

check button Fusion gene summary
Fusion gene informationFusion gene name: TAF8_COL5A3
Fusion gene ID: 37129
HgeneTgene
Gene symbol

TAF8

COL5A3

Gene ID

129685

50509

Gene nameTATA-box binding protein associated factor 8collagen type V alpha 3 chain
SynonymsII|TAF|TAFII-43|TAFII43|TBN-
Cytomap

6p21.1

19p13.2

Type of geneprotein-codingprotein-coding
Descriptiontranscription initiation factor TFIID subunit 8TAF(II)43TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDaTATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDaTBP-associated factor 43 kDaTBP-asscollagen alpha-3(V) chaincollagen, type V, alpha 3pro-(alpha)3(V) collagen
Modification date2018052220180523
UniProtAcc

Q7Z7C8

P25940

Ensembl transtripts involved in fusion geneENST00000372978, ENST00000494547, 
ENST00000456846, ENST00000372982, 
ENST00000472818, ENST00000372977, 
ENST00000482926, ENST00000465926, 
ENST00000482432, 
ENST00000264828, 
Fusion gene scores* DoF score7 X 6 X 6=2526 X 5 X 6=180
# samples 97
** MAII scorelog2(9/252*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/180*10)=-1.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TAF8 [Title/Abstract] AND COL5A3 [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
HgeneTAF8

GO:0045598

regulation of fat cell differentiation

14580349

HgeneTAF8

GO:0045893

positive regulation of transcription, DNA-templated

14580349

HgeneTAF8

GO:0051457

maintenance of protein location in nucleus

15870280


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
TCGARVLGGTCGA-TM-A7CF-01ATAF8chr6

42044977

+COL5A3chr19

10116907

-
TCGARVLGGTCGA-TM-A7CF-02ATAF8chr6

42044977

+COL5A3chr19

10116907

-
* 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
intron-3CDSENST00000372978ENST00000264828TAF8chr6

42044977

+COL5A3chr19

10116907

-
3UTR-3CDSENST00000494547ENST00000264828TAF8chr6

42044977

+COL5A3chr19

10116907

-
Frame-shiftENST00000456846ENST00000264828TAF8chr6

42044977

+COL5A3chr19

10116907

-
3UTR-3CDSENST00000372982ENST00000264828TAF8chr6

42044977

+COL5A3chr19

10116907

-
intron-3CDSENST00000472818ENST00000264828TAF8chr6

42044977

+COL5A3chr19

10116907

-
Frame-shiftENST00000372977ENST00000264828TAF8chr6

42044977

+COL5A3chr19

10116907

-
intron-3CDSENST00000482926ENST00000264828TAF8chr6

42044977

+COL5A3chr19

10116907

-
Frame-shiftENST00000465926ENST00000264828TAF8chr6

42044977

+COL5A3chr19

10116907

-
intron-3CDSENST00000482432ENST00000264828TAF8chr6

42044977

+COL5A3chr19

10116907

-

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FusionProtFeatures for TAF8_COL5A3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TAF8

Q7Z7C8

COL5A3

P25940

Transcription factor TFIID is one of the general factorsrequired for accurate and regulated initiation by RNA polymeraseII. Mediates both basal and activator-dependent transcription.Plays a role in the differentiation of preadipocyte fibroblasts toadipocytes, however, does not seem to play a role indifferentiation of myoblasts. Required for the integration ofTAF10 in the TAF complex. May be important for survival of cellsof the inner cell mass which constitute the pluripotent cellpopulation of the early embryo (By similarity). {ECO:0000250,ECO:0000269|PubMed:14580349}. Type V collagen is a member of group I collagen(fibrillar forming collagen). It is a minor connective tissuecomponent of nearly ubiquitous distribution. Type V collagen bindsto DNA, heparan sulfate, thrombospondin, heparin, and insulin.

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 TAF8_COL5A3


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 TAF8_COL5A3


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
TAF8TAF4, TBP, TAF10, TAF6, TAF13, TAF5, SUPT7L, TAF8, TAF11, TAF1, TAF2, TAF7, TAF9, KPNA2, KPNB1, HIST3H3, MED26, MEF2A, GNB2, ZDHHC17, TAF4B, TAF9B, TAF12, TTC29, PLK2, KIAA1107, KIF7, TAF3, TAF7L, DSCC1, TRIM25COL5A3


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 TAF8_COL5A3


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 TAF8_COL5A3


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