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Center for Computational Systems Medicine
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FusionGeneSummary

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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

-

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FusionProtFeatures for COL12A1_TMC5


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

Q99715

TMC5

Q6UXY8