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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: 5406

FusionGeneSummary for CAMTA1_THAP3

check button Fusion gene summary
Fusion gene informationFusion gene name: CAMTA1_THAP3
Fusion gene ID: 5406
HgeneTgene
Gene symbol

CAMTA1

THAP3

Gene ID

23261

90326

Gene namecalmodulin binding transcription activator 1THAP domain containing 3
SynonymsCANPMR-
Cytomap

1p36.31-p36.23

1p36.31

Type of geneprotein-codingprotein-coding
Descriptioncalmodulin-binding transcription activator 1THAP domain-containing protein 3THAP domain containing, apoptosis associated protein 3
Modification date2018052320180522
UniProtAcc

Q9Y6Y1

Q8WTV1

Ensembl transtripts involved in fusion geneENST00000303635, ENST00000439411, 
ENST00000476163, ENST00000557126, 
ENST00000473578, ENST00000467404, 
ENST00000476864, 		ENST00000054650, 
ENST00000484676, ENST00000307896, 
ENST00000377627, 
Fusion gene scores* DoF score7 X 6 X 3=1261 X 1 X 1=1
# samples 71
** MAII scorelog2(7/126*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: CAMTA1 [Title/Abstract] AND THAP3 [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
TCGARVBRCATCGA-D8-A1JK-01ACAMTA1chr1

6845635

+THAP3chr1

6688559

+
* 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-shiftENST00000303635ENST00000054650CAMTA1chr1

6845635

+THAP3chr1

6688559

+
5CDS-3UTRENST00000303635ENST00000484676CAMTA1chr1

6845635

+THAP3chr1

6688559

+
5CDS-3UTRENST00000303635ENST00000307896CAMTA1chr1

6845635

+THAP3chr1

6688559

+
5CDS-3UTRENST00000303635ENST00000377627CAMTA1chr1

6845635

+THAP3chr1

6688559

+
Frame-shiftENST00000439411ENST00000054650CAMTA1chr1

6845635

+THAP3chr1

6688559

+
5CDS-3UTRENST00000439411ENST00000484676CAMTA1chr1

6845635

+THAP3chr1

6688559

+
5CDS-3UTRENST00000439411ENST00000307896CAMTA1chr1

6845635

+THAP3chr1

6688559

+
5CDS-3UTRENST00000439411ENST00000377627CAMTA1chr1

6845635

+THAP3chr1

6688559

+
3UTR-3CDSENST00000476163ENST00000054650CAMTA1chr1

6845635

+THAP3chr1

6688559

+
3UTR-3UTRENST00000476163ENST00000484676CAMTA1chr1

6845635

+THAP3chr1

6688559

+
3UTR-3UTRENST00000476163ENST00000307896CAMTA1chr1

6845635

+THAP3chr1

6688559

+
3UTR-3UTRENST00000476163ENST00000377627CAMTA1chr1

6845635

+THAP3chr1

6688559

+
Frame-shiftENST00000557126ENST00000054650CAMTA1chr1

6845635

+THAP3chr1

6688559

+
5CDS-3UTRENST00000557126ENST00000484676CAMTA1chr1

6845635

+THAP3chr1

6688559

+
5CDS-3UTRENST00000557126ENST00000307896CAMTA1chr1

6845635

+THAP3chr1

6688559

+
5CDS-3UTRENST00000557126ENST00000377627CAMTA1chr1

6845635

+THAP3chr1

6688559

+
Frame-shiftENST00000473578ENST00000054650CAMTA1chr1

6845635

+THAP3chr1

6688559

+
5CDS-3UTRENST00000473578ENST00000484676CAMTA1chr1

6845635

+THAP3chr1

6688559

+
5CDS-3UTRENST00000473578ENST00000307896CAMTA1chr1

6845635

+THAP3chr1

6688559

+
5CDS-3UTRENST00000473578ENST00000377627CAMTA1chr1

6845635

+THAP3chr1

6688559

+
Frame-shiftENST00000467404ENST00000054650CAMTA1chr1

6845635

+THAP3chr1

6688559

+
5CDS-3UTRENST00000467404ENST00000484676CAMTA1chr1

6845635

+THAP3chr1

6688559

+
5CDS-3UTRENST00000467404ENST00000307896CAMTA1chr1

6845635

+THAP3chr1

6688559

+
5CDS-3UTRENST00000467404ENST00000377627CAMTA1chr1

6845635

+THAP3chr1

6688559

+
intron-3CDSENST00000476864ENST00000054650CAMTA1chr1

6845635

+THAP3chr1

6688559

+
intron-3UTRENST00000476864ENST00000484676CAMTA1chr1

6845635

+THAP3chr1

6688559

+
intron-3UTRENST00000476864ENST00000307896CAMTA1chr1

6845635

+THAP3chr1

6688559

+
intron-3UTRENST00000476864ENST00000377627CAMTA1chr1

6845635

+THAP3chr1

6688559

+

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FusionProtFeatures for CAMTA1_THAP3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CAMTA1

Q9Y6Y1

THAP3

Q8WTV1

Transcriptional activator. May act as a tumorsuppressor. {ECO:0000269|PubMed:11925432,ECO:0000269|PubMed:15709179}. Component of a THAP1/THAP3-HCFC1-OGT complex that isrequired for the regulation of the transcriptional activity ofRRM1. {ECO:0000269|PubMed:20200153}.

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 CAMTA1_THAP3


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 CAMTA1_THAP3


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
CAMTA1ALB, TRIM25THAP3HCFC1, OGT, APP, LTBR, SPTBN1, 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 CAMTA1_THAP3


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 CAMTA1_THAP3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTHAP3C0032460Polycystic Ovary Syndrome1CTD_human