FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 7844

FusionGeneSummary for COL12A1_TMC5

check button Fusion gene summary
Fusion gene informationFusion gene name: COL12A1_TMC5
Fusion gene ID: 7844
HgeneTgene
Gene symbol

COL12A1

TMC5

Gene ID

1303

79838

Gene namecollagen type XII alpha 1 chaintransmembrane channel like 5
SynonymsBA209D8.1|BTHLM2|COL12A1L|DJ234P15.1|EDSMYP|UCMD2-
Cytomap

6q13-q14.1

16p12.3

Type of geneprotein-codingprotein-coding
Descriptioncollagen alpha-1(XII) chaincollagen type XII proteoglycancollagen, type XII, alpha 1transmembrane channel-like protein 5
Modification date2018052320180523
UniProtAcc

Q99715

Q6UXY8

Ensembl transtripts involved in fusion geneENST00000322507, ENST00000345356, 
ENST00000416123, ENST00000483888, 
ENST00000511023, 		ENST00000563675, 
ENST00000541464, ENST00000381414, 
ENST00000396229, ENST00000542583, 
ENST00000219821, ENST00000561503, 
ENST00000564959, 
Fusion gene scores* DoF score4 X 6 X 2=486 X 8 X 3=144
# samples 67
** MAII scorelog2(6/48*10)=0.321928094887362
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: COL12A1 [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
ChiTaRS3.1BM987506COL12A1chr6

75796003

+TMC5chr16

19462412

-
* 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-intronENST00000322507ENST00000563675COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000322507ENST00000541464COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000322507ENST00000381414COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000322507ENST00000396229COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000322507ENST00000542583COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000322507ENST00000219821COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000322507ENST00000561503COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000322507ENST00000564959COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000345356ENST00000563675COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000345356ENST00000541464COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000345356ENST00000381414COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000345356ENST00000396229COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000345356ENST00000542583COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000345356ENST00000219821COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000345356ENST00000561503COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000345356ENST00000564959COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000416123ENST00000563675COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000416123ENST00000541464COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000416123ENST00000381414COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000416123ENST00000396229COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000416123ENST00000542583COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000416123ENST00000219821COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000416123ENST00000561503COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000416123ENST00000564959COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000483888ENST00000563675COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000483888ENST00000541464COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000483888ENST00000381414COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000483888ENST00000396229COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000483888ENST00000542583COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000483888ENST00000219821COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000483888ENST00000561503COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000483888ENST00000564959COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000511023ENST00000563675COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000511023ENST00000541464COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000511023ENST00000381414COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000511023ENST00000396229COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000511023ENST00000542583COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000511023ENST00000219821COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000511023ENST00000561503COL12A1chr6

75796003

+TMC5chr16

19462412

-
intron-intronENST00000511023ENST00000564959COL12A1chr6

75796003

+TMC5chr16

19462412

-

Top

FusionProtFeatures for COL12A1_TMC5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
COL12A1

Q99715

TMC5

Q6UXY8

Type XII collagen interacts with type I collagen-containing fibrils, the COL1 domain could be associated with thesurface of the fibrils, and the COL2 and NC3 domains may belocalized in the perifibrillar matrix. {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


Top

FusionGeneSequence for COL12A1_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).

Top

FusionGenePPI for COL12A1_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


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


Top

RelatedDrugs for COL12A1_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

Top

RelatedDiseases for COL12A1_TMC5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL12A1C4225313BETHLEM MYOPATHY 22UNIPROT
HgeneCOL12A1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCOL12A1C0345967Malignant mesothelioma1CTD_human