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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: 42091

FusionGeneSummary for WSCD1_NLRP1

check button Fusion gene summary
Fusion gene informationFusion gene name: WSCD1_NLRP1
Fusion gene ID: 42091
HgeneTgene
Gene symbol

WSCD1

NLRP1

Gene ID

23302

22861

Gene nameWSC domain containing 1NLR family pyrin domain containing 1
Synonyms-AIADK|CARD7|CIDED|CLR17.1|DEFCAP|DEFCAP-L/S|MSPC|NAC|NALP1|PP1044|SLEV1|VAMAS1
Cytomap

17p13.2

17p13.2

Type of geneprotein-codingprotein-coding
DescriptionWSC domain-containing protein 1NACHT, LRR and PYD domains-containing protein 1NACHT, LRR and PYD containing protein 1NACHT, leucine rich repeat and PYD (pyrin domain) containing 1NACHT, leucine rich repeat and PYD containing 1caspase recruitment domain protein 7caspase recruitment
Modification date2018040320180523
UniProtAcc

Q658N2

Q9C000

Ensembl transtripts involved in fusion geneENST00000563763, ENST00000574946, 
ENST00000573634, ENST00000317744, 
ENST00000574232, ENST00000539421, 
ENST00000262467, ENST00000345221, 
ENST00000269280, ENST00000572272, 
ENST00000354411, ENST00000577119, 
ENST00000571307, 
Fusion gene scores* DoF score3 X 3 X 3=277 X 4 X 6=168
# samples 49
** MAII scorelog2(4/27*10)=0.567040592723894
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(9/168*10)=-0.900464326449086
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: WSCD1 [Title/Abstract] AND NLRP1 [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
TgeneNLRP1

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

15212762

TgeneNLRP1

GO:0051402

neuron apoptotic process

15212762


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
TCGARVKIRCTCGA-CJ-5684-01AWSCD1chr17

5998543

+NLRP1chr17

5405192

-
TCGARVKIRCTCGA-CW-5590-01AWSCD1chr17

5998543

+NLRP1chr17

5405192

-
* 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-3CDSENST00000563763ENST00000262467WSCD1chr17

5998543

+NLRP1chr17

5405192

-
intron-intronENST00000563763ENST00000345221WSCD1chr17

5998543

+NLRP1chr17

5405192

-
intron-intronENST00000563763ENST00000269280WSCD1chr17

5998543

+NLRP1chr17

5405192

-
intron-intronENST00000563763ENST00000572272WSCD1chr17

5998543

+NLRP1chr17

5405192

-
intron-intronENST00000563763ENST00000354411WSCD1chr17

5998543

+NLRP1chr17

5405192

-
intron-intronENST00000563763ENST00000577119WSCD1chr17

5998543

+NLRP1chr17

5405192

-
intron-intronENST00000563763ENST00000571307WSCD1chr17

5998543

+NLRP1chr17

5405192

-
Frame-shiftENST00000574946ENST00000262467WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000574946ENST00000345221WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000574946ENST00000269280WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000574946ENST00000572272WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000574946ENST00000354411WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000574946ENST00000577119WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000574946ENST00000571307WSCD1chr17

5998543

+NLRP1chr17

5405192

-
Frame-shiftENST00000573634ENST00000262467WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000573634ENST00000345221WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000573634ENST00000269280WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000573634ENST00000572272WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000573634ENST00000354411WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000573634ENST00000577119WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000573634ENST00000571307WSCD1chr17

5998543

+NLRP1chr17

5405192

-
Frame-shiftENST00000317744ENST00000262467WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000317744ENST00000345221WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000317744ENST00000269280WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000317744ENST00000572272WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000317744ENST00000354411WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000317744ENST00000577119WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000317744ENST00000571307WSCD1chr17

5998543

+NLRP1chr17

5405192

-
Frame-shiftENST00000574232ENST00000262467WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000574232ENST00000345221WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000574232ENST00000269280WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000574232ENST00000572272WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000574232ENST00000354411WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000574232ENST00000577119WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000574232ENST00000571307WSCD1chr17

5998543

+NLRP1chr17

5405192

-
Frame-shiftENST00000539421ENST00000262467WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000539421ENST00000345221WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000539421ENST00000269280WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000539421ENST00000572272WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000539421ENST00000354411WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000539421ENST00000577119WSCD1chr17

5998543

+NLRP1chr17

5405192

-
5CDS-intronENST00000539421ENST00000571307WSCD1chr17

5998543

+NLRP1chr17

5405192

-

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FusionProtFeatures for WSCD1_NLRP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
WSCD1

Q658N2

NLRP1

Q9C000


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 WSCD1_NLRP1


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 WSCD1_NLRP1


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
WSCD1NLRP1NLRC4, APAF1, CASP9, CASP2, APOA1, CUL3, TRIM68, CLTC, CSNK1E, EIF6, SMC2, WWP2, TRIM25


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 WSCD1_NLRP1


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 WSCD1_NLRP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneWSCD1C0023903Liver neoplasms1CTD_human
HgeneWSCD1C0032927Precancerous Conditions1CTD_human
TgeneNLRP1C1847835VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)2CTD_human;UNIPROT
TgeneNLRP1C3808876CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA1ORPHANET;UNIPROT