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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: 37416

FusionGeneSummary for TBC1D8_CAMTA1

check button Fusion gene summary
Fusion gene informationFusion gene name: TBC1D8_CAMTA1
Fusion gene ID: 37416
HgeneTgene
Gene symbol

TBC1D8

CAMTA1

Gene ID

11138

23261

Gene nameTBC1 domain family member 8calmodulin binding transcription activator 1
SynonymsAD3|GRAMD8|HBLP1|TBC1D8A|VRPCANPMR
Cytomap

2q11.2

1p36.31-p36.23

Type of geneprotein-codingprotein-coding
DescriptionTBC1 domain family member 8BUB2-like protein 1TBC1 domain family, member 8 (with GRAM domain)TBC1 domain family, member 8Avascular Rab-GAP/TBC-containing proteincalmodulin-binding transcription activator 1
Modification date2018052320180523
UniProtAcc

O95759

Q9Y6Y1

Ensembl transtripts involved in fusion geneENST00000376840, ENST00000409318, 
ENST00000462819, 		ENST00000303635, 
ENST00000439411, ENST00000476163, 
ENST00000557126, ENST00000473578, 
ENST00000467404, ENST00000476864, 
Fusion gene scores* DoF score5 X 5 X 4=10015 X 13 X 5=975
# samples 616
** MAII scorelog2(6/100*10)=-0.736965594166206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/975*10)=-2.60733031374961
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TBC1D8 [Title/Abstract] AND CAMTA1 [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
ChiTaRS3.1H96278TBC1D8chr2

101654066

-CAMTA1chr1

6880239

+
* 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-3CDSENST00000376840ENST00000303635TBC1D8chr2

101654066

-CAMTA1chr1

6880239

+
intron-3CDSENST00000376840ENST00000439411TBC1D8chr2

101654066

-CAMTA1chr1

6880239

+
intron-intronENST00000376840ENST00000476163TBC1D8chr2

101654066

-CAMTA1chr1

6880239

+
intron-intronENST00000376840ENST00000557126TBC1D8chr2

101654066

-CAMTA1chr1

6880239

+
intron-intronENST00000376840ENST00000473578TBC1D8chr2

101654066

-CAMTA1chr1

6880239

+
intron-intronENST00000376840ENST00000467404TBC1D8chr2

101654066

-CAMTA1chr1

6880239

+
intron-intronENST00000376840ENST00000476864TBC1D8chr2

101654066

-CAMTA1chr1

6880239

+
intron-3CDSENST00000409318ENST00000303635TBC1D8chr2

101654066

-CAMTA1chr1

6880239

+
intron-3CDSENST00000409318ENST00000439411TBC1D8chr2

101654066

-CAMTA1chr1

6880239

+
intron-intronENST00000409318ENST00000476163TBC1D8chr2

101654066

-CAMTA1chr1

6880239

+
intron-intronENST00000409318ENST00000557126TBC1D8chr2

101654066

-CAMTA1chr1

6880239

+
intron-intronENST00000409318ENST00000473578TBC1D8chr2

101654066

-CAMTA1chr1

6880239

+
intron-intronENST00000409318ENST00000467404TBC1D8chr2

101654066

-CAMTA1chr1

6880239

+
intron-intronENST00000409318ENST00000476864TBC1D8chr2

101654066

-CAMTA1chr1

6880239

+
intron-3CDSENST00000462819ENST00000303635TBC1D8chr2

101654066

-CAMTA1chr1

6880239

+
intron-3CDSENST00000462819ENST00000439411TBC1D8chr2

101654066

-CAMTA1chr1

6880239

+
intron-intronENST00000462819ENST00000476163TBC1D8chr2

101654066

-CAMTA1chr1

6880239

+
intron-intronENST00000462819ENST00000557126TBC1D8chr2

101654066

-CAMTA1chr1

6880239

+
intron-intronENST00000462819ENST00000473578TBC1D8chr2

101654066

-CAMTA1chr1

6880239

+
intron-intronENST00000462819ENST00000467404TBC1D8chr2

101654066

-CAMTA1chr1

6880239

+
intron-intronENST00000462819ENST00000476864TBC1D8chr2

101654066

-CAMTA1chr1

6880239

+

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FusionProtFeatures for TBC1D8_CAMTA1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TBC1D8

O95759

CAMTA1

Q9Y6Y1

May act as a GTPase-activating protein for Rab familyprotein(s). Transcriptional activator. May act as a tumorsuppressor. {ECO:0000269|PubMed:11925432,ECO:0000269|PubMed:15709179}.

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 TBC1D8_CAMTA1


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 TBC1D8_CAMTA1


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


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 TBC1D8_CAMTA1


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 TBC1D8_CAMTA1


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