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Fusion gene ID: 5469 |
FusionGeneSummary for CAPN6_COL6A2 |
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Fusion gene information | Fusion gene name: CAPN6_COL6A2 | Fusion gene ID: 5469 | Hgene | Tgene | Gene symbol | CAPN6 | COL6A2 | Gene ID | 827 | 1292 |
Gene name | calpain 6 | collagen type VI alpha 2 chain | |
Synonyms | CANPX|CAPNX|CalpM|DJ914P14.1 | BTHLM1|PP3610|UCMD1 | |
Cytomap | Xq23 | 21q22.3 | |
Type of gene | protein-coding | protein-coding | |
Description | calpain-6calpain-like protease X-linkedcalpamodulin | collagen alpha-2(VI) chaincollagen VI, alpha-2 polypeptidecollagen, type VI, alpha 2human mRNA for collagen VI alpha-2 C-terminal globular domain | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q9Y6Q1 | P12110 | |
Ensembl transtripts involved in fusion gene | ENST00000324068, ENST00000541758, | ENST00000300527, ENST00000310645, ENST00000357838, ENST00000409416, ENST00000397763, ENST00000460886, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 8 X 7 X 3=168 |
# samples | 2 | 8 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | CN351992 | CAPN6 | chrX | 110507020 | - | COL6A2 | chr21 | 47531447 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-3CDS | ENST00000324068 | ENST00000300527 | CAPN6 | chrX | 110507020 | - | COL6A2 | chr21 | 47531447 | + |
intron-3CDS | ENST00000324068 | ENST00000310645 | CAPN6 | chrX | 110507020 | - | COL6A2 | chr21 | 47531447 | + |
intron-3CDS | ENST00000324068 | ENST00000357838 | CAPN6 | chrX | 110507020 | - | COL6A2 | chr21 | 47531447 | + |
intron-3CDS | ENST00000324068 | ENST00000409416 | CAPN6 | chrX | 110507020 | - | COL6A2 | chr21 | 47531447 | + |
intron-3CDS | ENST00000324068 | ENST00000397763 | CAPN6 | chrX | 110507020 | - | COL6A2 | chr21 | 47531447 | + |
intron-intron | ENST00000324068 | ENST00000460886 | CAPN6 | chrX | 110507020 | - | COL6A2 | chr21 | 47531447 | + |
intron-3CDS | ENST00000541758 | ENST00000300527 | CAPN6 | chrX | 110507020 | - | COL6A2 | chr21 | 47531447 | + |
intron-3CDS | ENST00000541758 | ENST00000310645 | CAPN6 | chrX | 110507020 | - | COL6A2 | chr21 | 47531447 | + |
intron-3CDS | ENST00000541758 | ENST00000357838 | CAPN6 | chrX | 110507020 | - | COL6A2 | chr21 | 47531447 | + |
intron-3CDS | ENST00000541758 | ENST00000409416 | CAPN6 | chrX | 110507020 | - | COL6A2 | chr21 | 47531447 | + |
intron-3CDS | ENST00000541758 | ENST00000397763 | CAPN6 | chrX | 110507020 | - | COL6A2 | chr21 | 47531447 | + |
intron-intron | ENST00000541758 | ENST00000460886 | CAPN6 | chrX | 110507020 | - | COL6A2 | chr21 | 47531447 | + |
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FusionProtFeatures for CAPN6_COL6A2 |
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Hgene | Tgene |
CAPN6 | COL6A2 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for CAPN6_COL6A2 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CAPN6_COL6A2 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for CAPN6_COL6A2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | COL6A2 | C1834674 | Bethlem myopathy | 4 | CTD_human;ORPHANET;UNIPROT |
Tgene | COL6A2 | C0410179 | Scleroatonic muscular dystrophy | 2 | CTD_human;ORPHANET;UNIPROT |
Tgene | COL6A2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | COL6A2 | C0029408 | Degenerative polyarthritis | 1 | CTD_human |