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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: 35177

FusionGeneSummary for SNRNP40_SPOCD1

check button Fusion gene summary
Fusion gene informationFusion gene name: SNRNP40_SPOCD1
Fusion gene ID: 35177
HgeneTgene
Gene symbol

SNRNP40

SPOCD1

Gene ID

9410

90853

Gene namesmall nuclear ribonucleoprotein U5 subunit 40SPOC domain containing 1
Synonyms40K|HPRP8BP|PRP8BP|PRPF8BP|SPF38|WDR57PPP1R146
Cytomap

1p35.2

1p35.2

Type of geneprotein-codingprotein-coding
DescriptionU5 small nuclear ribonucleoprotein 40 kDa protein38 kDa-splicing factorPrp8-binding proteinU5 snRNP 40 kDa proteinU5 snRNP-specific 40 kDa protein (hPrp8-binding)U5-40KU5-40kD proteinWD repeat domain 57 (U5 snRNP specific)WD repeat-containing protSPOC domain-containing protein 1protein phosphatase 1, regulatory subunit 146
Modification date2018052320180519
UniProtAcc

Q96DI7

Q6ZMY3

Ensembl transtripts involved in fusion geneENST00000263694, ENST00000489853, 
ENST00000373720, ENST00000446633, 
ENST00000257100, ENST00000373648, 
ENST00000360482, ENST00000533231, 
Fusion gene scores* DoF score6 X 3 X 5=904 X 3 X 3=36
# samples 54
** MAII scorelog2(5/90*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SNRNP40 [Title/Abstract] AND SPOCD1 [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
TgeneSPOCD1

GO:0010923

negative regulation of phosphatase activity

19389623


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
TCGARVSTADTCGA-HU-A4GF-01ASNRNP40chr1

31754221

-SPOCD1chr1

32267306

-
* 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-5UTRENST00000263694ENST00000257100SNRNP40chr1

31754221

-SPOCD1chr1

32267306

-
5CDS-5UTRENST00000263694ENST00000373648SNRNP40chr1

31754221

-SPOCD1chr1

32267306

-
5CDS-5UTRENST00000263694ENST00000360482SNRNP40chr1

31754221

-SPOCD1chr1

32267306

-
5CDS-5UTRENST00000263694ENST00000533231SNRNP40chr1

31754221

-SPOCD1chr1

32267306

-
5UTR-5UTRENST00000489853ENST00000257100SNRNP40chr1

31754221

-SPOCD1chr1

32267306

-
5UTR-5UTRENST00000489853ENST00000373648SNRNP40chr1

31754221

-SPOCD1chr1

32267306

-
5UTR-5UTRENST00000489853ENST00000360482SNRNP40chr1

31754221

-SPOCD1chr1

32267306

-
5UTR-5UTRENST00000489853ENST00000533231SNRNP40chr1

31754221

-SPOCD1chr1

32267306

-
intron-5UTRENST00000373720ENST00000257100SNRNP40chr1

31754221

-SPOCD1chr1

32267306

-
intron-5UTRENST00000373720ENST00000373648SNRNP40chr1

31754221

-SPOCD1chr1

32267306

-
intron-5UTRENST00000373720ENST00000360482SNRNP40chr1

31754221

-SPOCD1chr1

32267306

-
intron-5UTRENST00000373720ENST00000533231SNRNP40chr1

31754221

-SPOCD1chr1

32267306

-
5CDS-5UTRENST00000446633ENST00000257100SNRNP40chr1

31754221

-SPOCD1chr1

32267306

-
5CDS-5UTRENST00000446633ENST00000373648SNRNP40chr1

31754221

-SPOCD1chr1

32267306

-
5CDS-5UTRENST00000446633ENST00000360482SNRNP40chr1

31754221

-SPOCD1chr1

32267306

-
5CDS-5UTRENST00000446633ENST00000533231SNRNP40chr1

31754221

-SPOCD1chr1

32267306

-

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FusionProtFeatures for SNRNP40_SPOCD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SNRNP40

Q96DI7

SPOCD1

Q6ZMY3

Component of the U5 small nuclear ribonucleoprotein(snRNP) complex. The U5 snRNP is part of the spliceosome, amultiprotein complex that catalyzes the removal of introns frompre-messenger RNAs. {ECO:0000269|PubMed:9774689}.

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 SNRNP40_SPOCD1


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 SNRNP40_SPOCD1


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
SNRNP40PRPF8, SNRNP200, EFTUD2, CD2BP2, PRPF6, SNRPB2, PFDN2, MAGEA6, SF3B1, DDR1, USP39, PRPF4, CUL4A, CUL4B, WDR5, SRRM1, PML, RARA, ELAVL1, DHX16, RNU4ATAC, RNU6ATAC, APP, SNRPE, RALY, TBL1X, MDC1, EIF4A3, MAGOH, PRPF4B, RPA3, RPA2, RPA1, MOV10, NXF1, CUL7, OBSL1, SUZ12, DDX23, TSSC4, RSRC1, PRPF3, TFIP11, PAXBP1, PRPF31, SART1, ECD, SNRPD2, CCDC12, DHX38, SNRNP27, ZNHIT2, TXNL4A, AQR, SNRPD1, ISY1, RBM42, CHD3, CRNKL1, POLR3C, SREK1, XPO1, YWHAZ, USP37, SNW1, CDC5L, SNRPF, PPIE, AAR2, LMNASPOCD1PPP1CC


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 SNRNP40_SPOCD1


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 SNRNP40_SPOCD1


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