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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: 37623

FusionGeneSummary for TCIRG1_TMC5

check button Fusion gene summary
Fusion gene informationFusion gene name: TCIRG1_TMC5
Fusion gene ID: 37623
HgeneTgene
Gene symbol

TCIRG1

TMC5

Gene ID

10312

79838

Gene nameT cell immune regulator 1, ATPase H+ transporting V0 subunit a3transmembrane channel like 5
SynonymsATP6N1C|ATP6V0A3|Atp6i|OC-116kDa|OC116|OPTB1|Stv1|TIRC7|Vph1|a3-
Cytomap

11q13.2

16p12.3

Type of geneprotein-codingprotein-coding
DescriptionV-type proton ATPase 116 kDa subunit a isoform 3V-type proton ATPase 116 kDa subunit aATPase, H+ transporting, 116kDT-cell immune response cDNA 7T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein aT-cell, immune regulator 1, ATtransmembrane channel-like protein 5
Modification date2018052320180523
UniProtAcc

Q13488

Q6UXY8

Ensembl transtripts involved in fusion geneENST00000265686, ENST00000532635, 
ENST00000530802, 		ENST00000563675, 
ENST00000541464, ENST00000381414, 
ENST00000396229, ENST00000542583, 
ENST00000219821, ENST00000561503, 
ENST00000564959, 
Fusion gene scores* DoF score3 X 3 X 3=276 X 8 X 3=144
# samples 37
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(7/144*10)=-1.04064198449735
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TCIRG1 [Title/Abstract] AND TMC5 [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

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
TCGARVPRADTCGA-G9-6351-01ATCIRG1chr11

67818362

+TMC5chr16

19451282

+
* 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
5CDS-intronENST00000265686ENST00000563675TCIRG1chr11

67818362

+TMC5chr16

19451282

+
5CDS-5UTRENST00000265686ENST00000541464TCIRG1chr11

67818362

+TMC5chr16

19451282

+
5CDS-5UTRENST00000265686ENST00000381414TCIRG1chr11

67818362

+TMC5chr16

19451282

+
5CDS-5UTRENST00000265686ENST00000396229TCIRG1chr11

67818362

+TMC5chr16

19451282

+
5CDS-5UTRENST00000265686ENST00000542583TCIRG1chr11

67818362

+TMC5chr16

19451282

+
5CDS-intronENST00000265686ENST00000219821TCIRG1chr11

67818362

+TMC5chr16

19451282

+
5CDS-intronENST00000265686ENST00000561503TCIRG1chr11

67818362

+TMC5chr16

19451282

+
5CDS-intronENST00000265686ENST00000564959TCIRG1chr11

67818362

+TMC5chr16

19451282

+
5CDS-intronENST00000532635ENST00000563675TCIRG1chr11

67818362

+TMC5chr16

19451282

+
5CDS-5UTRENST00000532635ENST00000541464TCIRG1chr11

67818362

+TMC5chr16

19451282

+
5CDS-5UTRENST00000532635ENST00000381414TCIRG1chr11

67818362

+TMC5chr16

19451282

+
5CDS-5UTRENST00000532635ENST00000396229TCIRG1chr11

67818362

+TMC5chr16

19451282

+
5CDS-5UTRENST00000532635ENST00000542583TCIRG1chr11

67818362

+TMC5chr16

19451282

+
5CDS-intronENST00000532635ENST00000219821TCIRG1chr11

67818362

+TMC5chr16

19451282

+
5CDS-intronENST00000532635ENST00000561503TCIRG1chr11

67818362

+TMC5chr16

19451282

+
5CDS-intronENST00000532635ENST00000564959TCIRG1chr11

67818362

+TMC5chr16

19451282

+
intron-intronENST00000530802ENST00000563675TCIRG1chr11

67818362

+TMC5chr16

19451282

+
intron-5UTRENST00000530802ENST00000541464TCIRG1chr11

67818362

+TMC5chr16

19451282

+
intron-5UTRENST00000530802ENST00000381414TCIRG1chr11

67818362

+TMC5chr16

19451282

+
intron-5UTRENST00000530802ENST00000396229TCIRG1chr11

67818362

+TMC5chr16

19451282

+
intron-5UTRENST00000530802ENST00000542583TCIRG1chr11

67818362

+TMC5chr16

19451282

+
intron-intronENST00000530802ENST00000219821TCIRG1chr11

67818362

+TMC5chr16

19451282

+
intron-intronENST00000530802ENST00000561503TCIRG1chr11

67818362

+TMC5chr16

19451282

+
intron-intronENST00000530802ENST00000564959TCIRG1chr11

67818362

+TMC5chr16

19451282

+

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FusionProtFeatures for TCIRG1_TMC5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TCIRG1

Q13488

TMC5

Q6UXY8

Part of the proton channel of V-ATPases (By similarity).Seems to be directly involved in T-cell activation. {ECO:0000250}. Probable ion channel. {ECO:0000250}.

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 TCIRG1_TMC5


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 TCIRG1_TMC5


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
TCIRG1ATP6V1D, ATP6V1E1, ATP6V1B1, RPS18, SLC30A5, ERLEC1, EWSR1, RPS15, VAPA, ABCC2, DDX28, KCNK1, TERF1, ATP6AP2, SORT1, SYNCRIP, GOLT1B, BAG6, EGFR, ATP6V0D2, ATP6V0D1TMC5NUMBL, 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 TCIRG1_TMC5


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 TCIRG1_TMC5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTCIRG1C1850127Osteopetrosis, Autosomal Recessive 12CTD_human;UNIPROT