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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: 5449

FusionGeneSummary for CAPN1_CAPN1

check button Fusion gene summary
Fusion gene informationFusion gene name: CAPN1_CAPN1
Fusion gene ID: 5449
HgeneTgene
Gene symbol

CAPN1

CAPN1

Gene ID

823

823

Gene namecalpain 1calpain 1
SynonymsCANP|CANP1|CANPL1|SPG76|muCANP|muCLCANP|CANP1|CANPL1|SPG76|muCANP|muCL
Cytomap

11q13.1

11q13.1

Type of geneprotein-codingprotein-coding
Descriptioncalpain-1 catalytic subunitCANP 1calcium-activated neutral proteinase 1calpain 1, (mu/I) large subunitcalpain mu-typecalpain, large polypeptide L1calpain-1 large subunitcell proliferation-inducing gene 30 proteincell proliferation-inducing proteincalpain-1 catalytic subunitCANP 1calcium-activated neutral proteinase 1calpain 1, (mu/I) large subunitcalpain mu-typecalpain, large polypeptide L1calpain-1 large subunitcell proliferation-inducing gene 30 proteincell proliferation-inducing protein
Modification date2018052320180523
UniProtAcc

P07384

P07384

Ensembl transtripts involved in fusion geneENST00000533820, ENST00000533129, 
ENST00000524773, ENST00000279247, 
ENST00000527469, ENST00000527323, 
ENST00000533820, ENST00000533129, 
ENST00000524773, ENST00000279247, 
ENST00000527469, ENST00000527323, 
Fusion gene scores* DoF score7 X 7 X 6=2947 X 5 X 4=140
# samples 78
** MAII scorelog2(7/294*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/140*10)=-0.807354922057604
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CAPN1 [Title/Abstract] AND CAPN1 [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
HgeneCAPN1

GO:0006508

proteolysis

2400579|2407243|16411745|21531719

HgeneCAPN1

GO:0050790

regulation of catalytic activity

8954105|9271093

HgeneCAPN1

GO:0097264

self proteolysis

8769305|8954105

TgeneCAPN1

GO:0006508

proteolysis

2400579|2407243|16411745|21531719

TgeneCAPN1

GO:0050790

regulation of catalytic activity

8954105|9271093

TgeneCAPN1

GO:0097264

self proteolysis

8769305|8954105


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
ChiTaRS3.1BI023940CAPN1chr11

64950987

+CAPN1chr11

64953508

-
* 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
In-frameENST00000533820ENST00000533820CAPN1chr11

64950987

+CAPN1chr11

64953508

-
In-frameENST00000533820ENST00000533129CAPN1chr11

64950987

+CAPN1chr11

64953508

-
In-frameENST00000533820ENST00000524773CAPN1chr11

64950987

+CAPN1chr11

64953508

-
In-frameENST00000533820ENST00000279247CAPN1chr11

64950987

+CAPN1chr11

64953508

-
5CDS-intronENST00000533820ENST00000527469CAPN1chr11

64950987

+CAPN1chr11

64953508

-
5CDS-intronENST00000533820ENST00000527323CAPN1chr11

64950987

+CAPN1chr11

64953508

-
In-frameENST00000533129ENST00000533820CAPN1chr11

64950987

+CAPN1chr11

64953508

-
In-frameENST00000533129ENST00000533129CAPN1chr11

64950987

+CAPN1chr11

64953508

-
In-frameENST00000533129ENST00000524773CAPN1chr11

64950987

+CAPN1chr11

64953508

-
In-frameENST00000533129ENST00000279247CAPN1chr11

64950987

+CAPN1chr11

64953508

-
5CDS-intronENST00000533129ENST00000527469CAPN1chr11

64950987

+CAPN1chr11

64953508

-
5CDS-intronENST00000533129ENST00000527323CAPN1chr11

64950987

+CAPN1chr11

64953508

-
In-frameENST00000524773ENST00000533820CAPN1chr11

64950987

+CAPN1chr11

64953508

-
In-frameENST00000524773ENST00000533129CAPN1chr11

64950987

+CAPN1chr11

64953508

-
In-frameENST00000524773ENST00000524773CAPN1chr11

64950987

+CAPN1chr11

64953508

-
In-frameENST00000524773ENST00000279247CAPN1chr11

64950987

+CAPN1chr11

64953508

-
5CDS-intronENST00000524773ENST00000527469CAPN1chr11

64950987

+CAPN1chr11

64953508

-
5CDS-intronENST00000524773ENST00000527323CAPN1chr11

64950987

+CAPN1chr11

64953508

-
In-frameENST00000279247ENST00000533820CAPN1chr11

64950987

+CAPN1chr11

64953508

-
In-frameENST00000279247ENST00000533129CAPN1chr11

64950987

+CAPN1chr11

64953508

-
In-frameENST00000279247ENST00000524773CAPN1chr11

64950987

+CAPN1chr11

64953508

-
In-frameENST00000279247ENST00000279247CAPN1chr11

64950987

+CAPN1chr11

64953508

-
5CDS-intronENST00000279247ENST00000527469CAPN1chr11

64950987

+CAPN1chr11

64953508

-
5CDS-intronENST00000279247ENST00000527323CAPN1chr11

64950987

+CAPN1chr11

64953508

-
3UTR-3CDSENST00000527469ENST00000533820CAPN1chr11

64950987

+CAPN1chr11

64953508

-
3UTR-3CDSENST00000527469ENST00000533129CAPN1chr11

64950987

+CAPN1chr11

64953508

-
3UTR-3CDSENST00000527469ENST00000524773CAPN1chr11

64950987

+CAPN1chr11

64953508

-
3UTR-3CDSENST00000527469ENST00000279247CAPN1chr11

64950987

+CAPN1chr11

64953508

-
3UTR-intronENST00000527469ENST00000527469CAPN1chr11

64950987

+CAPN1chr11

64953508

-
3UTR-intronENST00000527469ENST00000527323CAPN1chr11

64950987

+CAPN1chr11

64953508

-
In-frameENST00000527323ENST00000533820CAPN1chr11

64950987

+CAPN1chr11

64953508

-
In-frameENST00000527323ENST00000533129CAPN1chr11

64950987

+CAPN1chr11

64953508

-
In-frameENST00000527323ENST00000524773CAPN1chr11

64950987

+CAPN1chr11

64953508

-
In-frameENST00000527323ENST00000279247CAPN1chr11

64950987

+CAPN1chr11

64953508

-
5CDS-intronENST00000527323ENST00000527469CAPN1chr11

64950987

+CAPN1chr11

64953508

-
5CDS-intronENST00000527323ENST00000527323CAPN1chr11

64950987

+CAPN1chr11

64953508

-

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FusionProtFeatures for CAPN1_CAPN1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CAPN1

P07384

CAPN1

P07384

Calcium-regulated non-lysosomal thiol-protease whichcatalyzes limited proteolysis of substrates involved incytoskeletal remodeling and signal transduction.{ECO:0000269|PubMed:21531719, ECO:0000269|PubMed:2400579}. Calcium-regulated non-lysosomal thiol-protease whichcatalyzes limited proteolysis of substrates involved incytoskeletal remodeling and signal transduction.{ECO:0000269|PubMed:21531719, ECO:0000269|PubMed:2400579}.

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 CAPN1_CAPN1


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 CAPN1_CAPN1


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 CAPN1_CAPN1


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 CAPN1_CAPN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCAPN1C0025202melanoma1CTD_human
HgeneCAPN1C0029134Optic Neuritis1CTD_human
TgeneCAPN1C0025202melanoma1CTD_human
TgeneCAPN1C0029134Optic Neuritis1CTD_human