FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 5475

FusionGeneSummary for CAPNS1_CHD1

check button Fusion gene summary
Fusion gene informationFusion gene name: CAPNS1_CHD1
Fusion gene ID: 5475
HgeneTgene
Gene symbol

CAPNS1

CHD1

Gene ID

826

1105

Gene namecalpain small subunit 1chromodomain helicase DNA binding protein 1
SynonymsCALPAIN4|CANP|CANPS|CAPN4|CDPS|CSS1PILBOS
Cytomap

19q13.12

5q15-q21.1

Type of geneprotein-codingprotein-coding
Descriptioncalpain small subunit 1CANP small subunitcalcium-activated neutral proteinase small subunitcalcium-dependent protease small subunit 1calcium-dependent protease, small subunitcalpain 4, small subunit (30K)calpain regulatory subunitcalpain, small polchromodomain-helicase-DNA-binding protein 1ATP-dependent helicase CHD1CHD-1
Modification date2018052220180522
UniProtAcc

P04632

O14646

Ensembl transtripts involved in fusion geneENST00000246533, ENST00000589146, 
ENST00000587718, ENST00000590874, 
ENST00000588815, ENST00000588780, 
ENST00000284049, ENST00000511067, 
Fusion gene scores* DoF score13 X 12 X 5=7808 X 1 X 6=48
# samples 148
** MAII scorelog2(14/780*10)=-2.47804729680464
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/48*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CAPNS1 [Title/Abstract] AND CHD1 [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
TCGARVLUADTCGA-55-6978-01ACAPNS1chr19

36641254

+CHD1chr5

98219587

-
* 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
5CDS-intronENST00000246533ENST00000284049CAPNS1chr19

36641254

+CHD1chr5

98219587

-
5CDS-intronENST00000246533ENST00000511067CAPNS1chr19

36641254

+CHD1chr5

98219587

-
intron-intronENST00000589146ENST00000284049CAPNS1chr19

36641254

+CHD1chr5

98219587

-
intron-intronENST00000589146ENST00000511067CAPNS1chr19

36641254

+CHD1chr5

98219587

-
5CDS-intronENST00000587718ENST00000284049CAPNS1chr19

36641254

+CHD1chr5

98219587

-
5CDS-intronENST00000587718ENST00000511067CAPNS1chr19

36641254

+CHD1chr5

98219587

-
intron-intronENST00000590874ENST00000284049CAPNS1chr19

36641254

+CHD1chr5

98219587

-
intron-intronENST00000590874ENST00000511067CAPNS1chr19

36641254

+CHD1chr5

98219587

-
5CDS-intronENST00000588815ENST00000284049CAPNS1chr19

36641254

+CHD1chr5

98219587

-
5CDS-intronENST00000588815ENST00000511067CAPNS1chr19

36641254

+CHD1chr5

98219587

-
intron-intronENST00000588780ENST00000284049CAPNS1chr19

36641254

+CHD1chr5

98219587

-
intron-intronENST00000588780ENST00000511067CAPNS1chr19

36641254

+CHD1chr5

98219587

-

Top

FusionProtFeatures for CAPNS1_CHD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CAPNS1

P04632

CHD1

O14646

Regulatory subunit of the calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis ofsubstrates involved in cytoskeletal remodeling and signaltransduction. ATP-dependent chromatin-remodeling factor whichfunctions as substrate recognition component of the transcriptionregulatory histone acetylation (HAT) complex SAGA. Regulatespolymerase II transcription. Also required for efficienttranscription by RNA polymerase I, and more specifically thepolymerase I transcription termination step. Regulates negativelyDNA replication. Not only involved in transcription-relatedchromatin-remodeling, but also required to maintain a specificchromatin configuration across the genome. Is also associated withhistone deacetylase (HDAC) activity (By similarity). Required forthe bridging of SNF2, the FACT complex, the PAF complex as well asthe U2 snRNP complex to H3K4me3. Functions to modulate theefficiency of pre-mRNA splicing in part through physical bridgingof spliceosomal components to H3K4me3 (PubMed:18042460,PubMed:28866611). Required for maintaining open chromatin andpluripotency in embryonic stem cells (By similarity).{ECO:0000250|UniProtKB:P40201, ECO:0000269|PubMed:18042460,ECO:0000269|PubMed:28866611}.

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


Top

FusionGeneSequence for CAPNS1_CHD1


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).

Top

FusionGenePPI for CAPNS1_CHD1


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
CAPNS1ARR3, ATP5J2, DRG1, RAB1A, TERF1, GET4, GNB2, CDK4, CAPN2, IL2RG, RUVBL1, MEPCE, POU5F1, CSPG4, FN1, VCAM1, ITGA4, ADRB2, TRAF5, STAT3, PPARGC1A, ALDH7A1, APEX1, ASNS, EIF5, FERMT2, GAPDH, GNAI3, STK26, MYO1E, OGFOD1, PTMA, TBCB, DCPS, ISOC1, MAT2A, MAT2B, PAFAH1B1, PAK2, PDIA4, PPP1CA, PROSC, YWHAE, YWHAG, YWHAH, YWHAQ, YWHAZ, CDC20, NEDD1, TUBGCP2, TUBGCP3, HUWE1, AGTRAP, USP1, KNG1, FNTB, TNF, CAPNS2, CAPN1, DUSP19, C8orf37CHD1ARRB1, HDAC1, BCLAF1, SRSF3, NCOR1, SAFB, SSRP1, CEBPA, HMGA1, HIST1H3A, MLLT1, PAF1, ELAVL1, SIRT7, ISG15, SPP1, FBXW11, HIST3H3, CUL7, OBSL1, NTRK1, CTR9, RTF1, HNRNPU, NPM1, RPL10, TMPO, BTRC, INO80B, RNF157


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


Top

RelatedDrugs for CAPNS1_CHD1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCHD1O14646DB00445EpirubicinChromodomain-helicase-DNA-binding protein 1small moleculeapproved

Top

RelatedDiseases for CAPNS1_CHD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCAPNS1C0033578Prostatic Neoplasms1CTD_human