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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: 37411

FusionGeneSummary for TBC1D5_SETD5

check button Fusion gene summary
Fusion gene informationFusion gene name: TBC1D5_SETD5
Fusion gene ID: 37411
HgeneTgene
Gene symbol

TBC1D5

SETD5

Gene ID

9779

55209

Gene nameTBC1 domain family member 5SET domain containing 5
Synonyms--
Cytomap

3p24.3

3p25.3

Type of geneprotein-codingprotein-coding
DescriptionTBC1 domain family member 5SET domain-containing protein 5
Modification date2018052320180519
UniProtAcc

Q92609

Q9C0A6

Ensembl transtripts involved in fusion geneENST00000414318, ENST00000253692, 
ENST00000429383, ENST00000446818, 
ENST00000429924, 
ENST00000402198, 
ENST00000402466, ENST00000406341, 
ENST00000407969, ENST00000302463, 
ENST00000488236, 
Fusion gene scores* DoF score6 X 4 X 5=1206 X 8 X 4=192
# samples 68
** MAII scorelog2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/192*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TBC1D5 [Title/Abstract] AND SETD5 [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
HgeneTBC1D5

GO:0006914

autophagy

22354992

HgeneTBC1D5

GO:0042594

response to starvation

22354992


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-L9-A8F4-01ATBC1D5chr3

17469942

-SETD5chr3

9477412

+
* 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-3CDSENST00000414318ENST00000402198TBC1D5chr3

17469942

-SETD5chr3

9477412

+
intron-3CDSENST00000414318ENST00000402466TBC1D5chr3

17469942

-SETD5chr3

9477412

+
intron-3CDSENST00000414318ENST00000406341TBC1D5chr3

17469942

-SETD5chr3

9477412

+
intron-3CDSENST00000414318ENST00000407969TBC1D5chr3

17469942

-SETD5chr3

9477412

+
intron-3CDSENST00000414318ENST00000302463TBC1D5chr3

17469942

-SETD5chr3

9477412

+
intron-intronENST00000414318ENST00000488236TBC1D5chr3

17469942

-SETD5chr3

9477412

+
Frame-shiftENST00000253692ENST00000402198TBC1D5chr3

17469942

-SETD5chr3

9477412

+
Frame-shiftENST00000253692ENST00000402466TBC1D5chr3

17469942

-SETD5chr3

9477412

+
Frame-shiftENST00000253692ENST00000406341TBC1D5chr3

17469942

-SETD5chr3

9477412

+
Frame-shiftENST00000253692ENST00000407969TBC1D5chr3

17469942

-SETD5chr3

9477412

+
Frame-shiftENST00000253692ENST00000302463TBC1D5chr3

17469942

-SETD5chr3

9477412

+
5CDS-intronENST00000253692ENST00000488236TBC1D5chr3

17469942

-SETD5chr3

9477412

+
Frame-shiftENST00000429383ENST00000402198TBC1D5chr3

17469942

-SETD5chr3

9477412

+
Frame-shiftENST00000429383ENST00000402466TBC1D5chr3

17469942

-SETD5chr3

9477412

+
Frame-shiftENST00000429383ENST00000406341TBC1D5chr3

17469942

-SETD5chr3

9477412

+
Frame-shiftENST00000429383ENST00000407969TBC1D5chr3

17469942

-SETD5chr3

9477412

+
Frame-shiftENST00000429383ENST00000302463TBC1D5chr3

17469942

-SETD5chr3

9477412

+
5CDS-intronENST00000429383ENST00000488236TBC1D5chr3

17469942

-SETD5chr3

9477412

+
Frame-shiftENST00000446818ENST00000402198TBC1D5chr3

17469942

-SETD5chr3

9477412

+
Frame-shiftENST00000446818ENST00000402466TBC1D5chr3

17469942

-SETD5chr3

9477412

+
Frame-shiftENST00000446818ENST00000406341TBC1D5chr3

17469942

-SETD5chr3

9477412

+
Frame-shiftENST00000446818ENST00000407969TBC1D5chr3

17469942

-SETD5chr3

9477412

+
Frame-shiftENST00000446818ENST00000302463TBC1D5chr3

17469942

-SETD5chr3

9477412

+
5CDS-intronENST00000446818ENST00000488236TBC1D5chr3

17469942

-SETD5chr3

9477412

+
intron-3CDSENST00000429924ENST00000402198TBC1D5chr3

17469942

-SETD5chr3

9477412

+
intron-3CDSENST00000429924ENST00000402466TBC1D5chr3

17469942

-SETD5chr3

9477412

+
intron-3CDSENST00000429924ENST00000406341TBC1D5chr3

17469942

-SETD5chr3

9477412

+
intron-3CDSENST00000429924ENST00000407969TBC1D5chr3

17469942

-SETD5chr3

9477412

+
intron-3CDSENST00000429924ENST00000302463TBC1D5chr3

17469942

-SETD5chr3

9477412

+
intron-intronENST00000429924ENST00000488236TBC1D5chr3

17469942

-SETD5chr3

9477412

+

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FusionProtFeatures for TBC1D5_SETD5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TBC1D5

Q92609

SETD5

Q9C0A6

May act as a GTPase-activating protein (GAP) for Rabfamily protein(s). May act as a GAP for RAB7A. Can displace RAB7Aand retromer CSC subcomplex from the endosomal membrane to thecytosol; at least retromer displacement seems to require itscatalytic activity (PubMed:19531583, PubMed:20923837). Requiredfor retrograde transport of cargo proteins from endosomes to thetrans-Golgi network (TGN); the function seems to require itscatalytic activity. Involved in regulation of autophagy(PubMed:22354992). May act as a molecular switch between endosomaland autophagosomal transport and is involved in reprogrammingvesicle trafficking upon autophagy induction. Involved in thetrafficking of ATG9A upon activation of autophagy. May regulatethe recruitment of ATG9A-AP2-containing vesicles to autophagicmembranes (PubMed:24603492). {ECO:0000269|PubMed:19531583,ECO:0000269|PubMed:20923837, ECO:0000269|PubMed:22354992,ECO:0000269|PubMed:24603492, ECO:0000305|PubMed:19531583,ECO:0000305|PubMed:22354992, ECO:0000305|PubMed:24603492}. Probable transcriptional regulator that acts via theformation of large multiprotein complexes that modify and/orremodel the chromatin. Acts as a regulator of histone acetylationduring gene transcription. {ECO:0000250|UniProtKB:Q5XJV7}.

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 TBC1D5_SETD5


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 TBC1D5_SETD5


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
TBC1D5GABARAPL2, AP2M1, VPS29, MAP1LC3A, GABARAPL1, MAP1LC3B, VPS35, VPS26A, VPS26B, FAM21A, ATXN1, YWHAB, EIF1AD, NTRK1, TMEM17, XPO1, PTPRR, UBCSETD5DPPA2, CCDC85B, TRAF2, LDOC1, MTUS2, CEP70, KRT40, NXF1, SKAP1, PRMT2, NAGK, PRR20E, SPAG16, RMND5B


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 TBC1D5_SETD5


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 TBC1D5_SETD5


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