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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: 7841

FusionGeneSummary for COL12A1_COL12A1

check button Fusion gene summary
Fusion gene informationFusion gene name: COL12A1_COL12A1
Fusion gene ID: 7841
HgeneTgene
Gene symbol

COL12A1

COL12A1

Gene ID

1303

1303

Gene namecollagen type XII alpha 1 chaincollagen type XII alpha 1 chain
SynonymsBA209D8.1|BTHLM2|COL12A1L|DJ234P15.1|EDSMYP|UCMD2BA209D8.1|BTHLM2|COL12A1L|DJ234P15.1|EDSMYP|UCMD2
Cytomap

6q13-q14.1

6q13-q14.1

Type of geneprotein-codingprotein-coding
Descriptioncollagen alpha-1(XII) chaincollagen type XII proteoglycancollagen, type XII, alpha 1collagen alpha-1(XII) chaincollagen type XII proteoglycancollagen, type XII, alpha 1
Modification date2018052320180523
UniProtAcc

Q99715

Q99715

Ensembl transtripts involved in fusion geneENST00000322507, ENST00000345356, 
ENST00000416123, ENST00000483888, 
ENST00000511023, 
ENST00000322507, 
ENST00000345356, ENST00000416123, 
ENST00000483888, ENST00000511023, 
Fusion gene scores* DoF score4 X 6 X 2=487 X 9 X 2=126
# samples 69
** MAII scorelog2(6/48*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(9/126*10)=-0.485426827170242
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: COL12A1 [Title/Abstract] AND COL12A1 [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
ChiTaRS3.1BF154542COL12A1chr6

75795888

+COL12A1chr6

75795958

-
ChiTaRS3.1AL359627COL12A1chr6

75794622

+COL12A1chr6

75794572

-
ChiTaRS3.1AA541569COL12A1chr6

75794078

-COL12A1chr6

75794202

+
* 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-3UTRENST00000322507ENST00000322507COL12A1chr6

75795888

+COL12A1chr6

75795958

-
intron-intronENST00000322507ENST00000345356COL12A1chr6

75795888

+COL12A1chr6

75795958

-
intron-intronENST00000322507ENST00000416123COL12A1chr6

75795888

+COL12A1chr6

75795958

-
intron-intronENST00000322507ENST00000483888COL12A1chr6

75795888

+COL12A1chr6

75795958

-
intron-intronENST00000322507ENST00000511023COL12A1chr6

75795888

+COL12A1chr6

75795958

-
intron-3UTRENST00000345356ENST00000322507COL12A1chr6

75795888

+COL12A1chr6

75795958

-
intron-intronENST00000345356ENST00000345356COL12A1chr6

75795888

+COL12A1chr6

75795958

-
intron-intronENST00000345356ENST00000416123COL12A1chr6

75795888

+COL12A1chr6

75795958

-
intron-intronENST00000345356ENST00000483888COL12A1chr6

75795888

+COL12A1chr6

75795958

-
intron-intronENST00000345356ENST00000511023COL12A1chr6

75795888

+COL12A1chr6

75795958

-
intron-3UTRENST00000416123ENST00000322507COL12A1chr6

75795888

+COL12A1chr6

75795958

-
intron-intronENST00000416123ENST00000345356COL12A1chr6

75795888

+COL12A1chr6

75795958

-
intron-intronENST00000416123ENST00000416123COL12A1chr6

75795888

+COL12A1chr6

75795958

-
intron-intronENST00000416123ENST00000483888COL12A1chr6

75795888

+COL12A1chr6

75795958

-
intron-intronENST00000416123ENST00000511023COL12A1chr6

75795888

+COL12A1chr6

75795958

-
intron-3UTRENST00000483888ENST00000322507COL12A1chr6

75795888

+COL12A1chr6

75795958

-
intron-intronENST00000483888ENST00000345356COL12A1chr6

75795888

+COL12A1chr6

75795958

-
intron-intronENST00000483888ENST00000416123COL12A1chr6

75795888

+COL12A1chr6

75795958

-
intron-intronENST00000483888ENST00000483888COL12A1chr6

75795888

+COL12A1chr6

75795958

-
intron-intronENST00000483888ENST00000511023COL12A1chr6

75795888

+COL12A1chr6

75795958

-
intron-3UTRENST00000511023ENST00000322507COL12A1chr6

75795888

+COL12A1chr6

75795958

-
intron-intronENST00000511023ENST00000345356COL12A1chr6

75795888

+COL12A1chr6

75795958

-
intron-intronENST00000511023ENST00000416123COL12A1chr6

75795888

+COL12A1chr6

75795958

-
intron-intronENST00000511023ENST00000483888COL12A1chr6

75795888

+COL12A1chr6

75795958

-
intron-intronENST00000511023ENST00000511023COL12A1chr6

75795888

+COL12A1chr6

75795958

-
intron-3UTRENST00000322507ENST00000322507COL12A1chr6

75794622

+COL12A1chr6

75794572

-
intron-intronENST00000322507ENST00000345356COL12A1chr6

75794622

+COL12A1chr6

75794572

-
intron-intronENST00000322507ENST00000416123COL12A1chr6

75794622

+COL12A1chr6

75794572

-
intron-intronENST00000322507ENST00000483888COL12A1chr6

75794622

+COL12A1chr6

75794572

-
intron-intronENST00000322507ENST00000511023COL12A1chr6

75794622

+COL12A1chr6

75794572

-
intron-3UTRENST00000345356ENST00000322507COL12A1chr6

75794622

+COL12A1chr6

75794572

-
intron-intronENST00000345356ENST00000345356COL12A1chr6

75794622

+COL12A1chr6

75794572

-
intron-intronENST00000345356ENST00000416123COL12A1chr6

75794622

+COL12A1chr6

75794572

-
intron-intronENST00000345356ENST00000483888COL12A1chr6

75794622

+COL12A1chr6

75794572

-
intron-intronENST00000345356ENST00000511023COL12A1chr6

75794622

+COL12A1chr6

75794572

-
intron-3UTRENST00000416123ENST00000322507COL12A1chr6

75794622

+COL12A1chr6

75794572

-
intron-intronENST00000416123ENST00000345356COL12A1chr6

75794622

+COL12A1chr6

75794572

-
intron-intronENST00000416123ENST00000416123COL12A1chr6

75794622

+COL12A1chr6

75794572

-
intron-intronENST00000416123ENST00000483888COL12A1chr6

75794622

+COL12A1chr6

75794572

-
intron-intronENST00000416123ENST00000511023COL12A1chr6

75794622

+COL12A1chr6

75794572

-
intron-3UTRENST00000483888ENST00000322507COL12A1chr6

75794622

+COL12A1chr6

75794572

-
intron-intronENST00000483888ENST00000345356COL12A1chr6

75794622

+COL12A1chr6

75794572

-
intron-intronENST00000483888ENST00000416123COL12A1chr6

75794622

+COL12A1chr6

75794572

-
intron-intronENST00000483888ENST00000483888COL12A1chr6

75794622

+COL12A1chr6

75794572

-
intron-intronENST00000483888ENST00000511023COL12A1chr6

75794622

+COL12A1chr6

75794572

-
intron-3UTRENST00000511023ENST00000322507COL12A1chr6

75794622

+COL12A1chr6

75794572

-
intron-intronENST00000511023ENST00000345356COL12A1chr6

75794622

+COL12A1chr6

75794572

-
intron-intronENST00000511023ENST00000416123COL12A1chr6

75794622

+COL12A1chr6

75794572

-
intron-intronENST00000511023ENST00000483888COL12A1chr6

75794622

+COL12A1chr6

75794572

-
intron-intronENST00000511023ENST00000511023COL12A1chr6

75794622

+COL12A1chr6

75794572

-
intron-3UTRENST00000322507ENST00000322507COL12A1chr6

75794078

-COL12A1chr6

75794202

+
intron-intronENST00000322507ENST00000345356COL12A1chr6

75794078

-COL12A1chr6

75794202

+
intron-intronENST00000322507ENST00000416123COL12A1chr6

75794078

-COL12A1chr6

75794202

+
intron-intronENST00000322507ENST00000483888COL12A1chr6

75794078

-COL12A1chr6

75794202

+
intron-intronENST00000322507ENST00000511023COL12A1chr6

75794078

-COL12A1chr6

75794202

+
intron-3UTRENST00000345356ENST00000322507COL12A1chr6

75794078

-COL12A1chr6

75794202

+
intron-intronENST00000345356ENST00000345356COL12A1chr6

75794078

-COL12A1chr6

75794202

+
intron-intronENST00000345356ENST00000416123COL12A1chr6

75794078

-COL12A1chr6

75794202

+
intron-intronENST00000345356ENST00000483888COL12A1chr6

75794078

-COL12A1chr6

75794202

+
intron-intronENST00000345356ENST00000511023COL12A1chr6

75794078

-COL12A1chr6

75794202

+
intron-3UTRENST00000416123ENST00000322507COL12A1chr6

75794078

-COL12A1chr6

75794202

+
intron-intronENST00000416123ENST00000345356COL12A1chr6

75794078

-COL12A1chr6

75794202

+
intron-intronENST00000416123ENST00000416123COL12A1chr6

75794078

-COL12A1chr6

75794202

+
intron-intronENST00000416123ENST00000483888COL12A1chr6

75794078

-COL12A1chr6

75794202

+
intron-intronENST00000416123ENST00000511023COL12A1chr6

75794078

-COL12A1chr6

75794202

+
intron-3UTRENST00000483888ENST00000322507COL12A1chr6

75794078

-COL12A1chr6

75794202

+
intron-intronENST00000483888ENST00000345356COL12A1chr6

75794078

-COL12A1chr6

75794202

+
intron-intronENST00000483888ENST00000416123COL12A1chr6

75794078

-COL12A1chr6

75794202

+
intron-intronENST00000483888ENST00000483888COL12A1chr6

75794078

-COL12A1chr6

75794202

+
intron-intronENST00000483888ENST00000511023COL12A1chr6

75794078

-COL12A1chr6

75794202

+
intron-3UTRENST00000511023ENST00000322507COL12A1chr6

75794078

-COL12A1chr6

75794202

+
intron-intronENST00000511023ENST00000345356COL12A1chr6

75794078

-COL12A1chr6

75794202

+
intron-intronENST00000511023ENST00000416123COL12A1chr6

75794078

-COL12A1chr6

75794202

+
intron-intronENST00000511023ENST00000483888COL12A1chr6

75794078

-COL12A1chr6

75794202

+
intron-intronENST00000511023ENST00000511023COL12A1chr6

75794078

-COL12A1chr6

75794202

+

Top

FusionProtFeatures for COL12A1_COL12A1


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

Q99715

COL12A1

Q99715

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}. 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}.

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 COL12A1_COL12A1


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 COL12A1_COL12A1


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 COL12A1_COL12A1


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 COL12A1_COL12A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL12A1C4225313BETHLEM MYOPATHY 22UNIPROT
HgeneCOL12A1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCOL12A1C0345967Malignant mesothelioma1CTD_human
TgeneCOL12A1C4225313BETHLEM MYOPATHY 22UNIPROT
TgeneCOL12A1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneCOL12A1C0345967Malignant mesothelioma1CTD_human