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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: 5469

FusionGeneSummary for CAPN6_COL6A2

check button Fusion gene summary
Fusion gene informationFusion gene name: CAPN6_COL6A2
Fusion gene ID: 5469
HgeneTgene
Gene symbol

CAPN6

COL6A2

Gene ID

827

1292

Gene namecalpain 6collagen type VI alpha 2 chain
SynonymsCANPX|CAPNX|CalpM|DJ914P14.1BTHLM1|PP3610|UCMD1
Cytomap

Xq23

21q22.3

Type of geneprotein-codingprotein-coding
Descriptioncalpain-6calpain-like protease X-linkedcalpamodulincollagen alpha-2(VI) chaincollagen VI, alpha-2 polypeptidecollagen, type VI, alpha 2human mRNA for collagen VI alpha-2 C-terminal globular domain
Modification date2018052320180523
UniProtAcc

Q9Y6Q1

P12110

Ensembl transtripts involved in fusion geneENST00000324068, ENST00000541758, 
ENST00000300527, ENST00000310645, 
ENST00000357838, ENST00000409416, 
ENST00000397763, ENST00000460886, 
Fusion gene scores* DoF score2 X 2 X 2=88 X 7 X 3=168
# samples 28
** MAII scorelog2(2/8*10)=1.32192809488736log2(8/168*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CAPN6 [Title/Abstract] AND COL6A2 [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
ChiTaRS3.1CN351992CAPN6chrX

110507020

-COL6A2chr21

47531447

+
* 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-3CDSENST00000324068ENST00000300527CAPN6chrX

110507020

-COL6A2chr21

47531447

+
intron-3CDSENST00000324068ENST00000310645CAPN6chrX

110507020

-COL6A2chr21

47531447

+
intron-3CDSENST00000324068ENST00000357838CAPN6chrX

110507020

-COL6A2chr21

47531447

+
intron-3CDSENST00000324068ENST00000409416CAPN6chrX

110507020

-COL6A2chr21

47531447

+
intron-3CDSENST00000324068ENST00000397763CAPN6chrX

110507020

-COL6A2chr21

47531447

+
intron-intronENST00000324068ENST00000460886CAPN6chrX

110507020

-COL6A2chr21

47531447

+
intron-3CDSENST00000541758ENST00000300527CAPN6chrX

110507020

-COL6A2chr21

47531447

+
intron-3CDSENST00000541758ENST00000310645CAPN6chrX

110507020

-COL6A2chr21

47531447

+
intron-3CDSENST00000541758ENST00000357838CAPN6chrX

110507020

-COL6A2chr21

47531447

+
intron-3CDSENST00000541758ENST00000409416CAPN6chrX

110507020

-COL6A2chr21

47531447

+
intron-3CDSENST00000541758ENST00000397763CAPN6chrX

110507020

-COL6A2chr21

47531447

+
intron-intronENST00000541758ENST00000460886CAPN6chrX

110507020

-COL6A2chr21

47531447

+

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FusionProtFeatures for CAPN6_COL6A2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CAPN6

Q9Y6Q1

COL6A2

P12110

Microtubule-stabilizing protein that may be involved inthe regulation of microtubule dynamics and cytoskeletalorganization. May act as a regulator of RAC1 activity throughinteraction with ARHGEF2 to control lamellipodial formation andcell mobility. Does not seem to have protease activity as it haslost the active site residues (By similarity). {ECO:0000250,ECO:0000269|PubMed:17210638}.

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 CAPN6_COL6A2


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 CAPN6_COL6A2


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 CAPN6_COL6A2


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 CAPN6_COL6A2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCOL6A2C1834674Bethlem myopathy4CTD_human;ORPHANET;UNIPROT
TgeneCOL6A2C0410179Scleroatonic muscular dystrophy2CTD_human;ORPHANET;UNIPROT
TgeneCOL6A2C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneCOL6A2C0029408Degenerative polyarthritis1CTD_human