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: 34959

FusionGeneSummary for SMPD1_TRPC4

check button Fusion gene summary
Fusion gene informationFusion gene name: SMPD1_TRPC4
Fusion gene ID: 34959
HgeneTgene
Gene symbol

SMPD1

TRPC4

Gene ID

6609

7223

Gene namesphingomyelin phosphodiesterase 1transient receptor potential cation channel subfamily C member 4
SynonymsASM|ASMASE|NPDHTRP-4|HTRP4|TRP4
Cytomap

11p15.4

13q13.3

Type of geneprotein-codingprotein-coding
Descriptionsphingomyelin phosphodiesteraseacid sphingomyelinasesphingomyelin phosphodiesterase 1, acid lysosomalshort transient receptor potential channel 4trp-related protein 4
Modification date2018052320180523
UniProtAcc

P17405

Q9UBN4

Ensembl transtripts involved in fusion geneENST00000356761, ENST00000299397, 
ENST00000342245, ENST00000533196, 
ENST00000527275, 		ENST00000379705, 
ENST00000379681, ENST00000338947, 
ENST00000379679, ENST00000426868, 
ENST00000379673, ENST00000355779, 
ENST00000358477, ENST00000447043, 
ENST00000494529, 
Fusion gene scores* DoF score2 X 2 X 1=43 X 3 X 2=18
# samples 26
** MAII scorelog2(2/4*10)=2.32192809488736log2(6/18*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SMPD1 [Title/Abstract] AND TRPC4 [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
HgeneSMPD1

GO:0006685

sphingomyelin catabolic process

18815062

HgeneSMPD1

GO:0046513

ceramide biosynthetic process

18815062

TgeneTRPC4

GO:0070509

calcium ion import

19996314


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
ChiTaRS3.1BP375800SMPD1chr11

6412128

+TRPC4chr13

38443784

-
* 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-5UTRENST00000356761ENST00000379705SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000356761ENST00000379681SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000356761ENST00000338947SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-intronENST00000356761ENST00000379679SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000356761ENST00000426868SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000356761ENST00000379673SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000356761ENST00000355779SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000356761ENST00000358477SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000356761ENST00000447043SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-intronENST00000356761ENST00000494529SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000299397ENST00000379705SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000299397ENST00000379681SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000299397ENST00000338947SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-intronENST00000299397ENST00000379679SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000299397ENST00000426868SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000299397ENST00000379673SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000299397ENST00000355779SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000299397ENST00000358477SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000299397ENST00000447043SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-intronENST00000299397ENST00000494529SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000342245ENST00000379705SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000342245ENST00000379681SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000342245ENST00000338947SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-intronENST00000342245ENST00000379679SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000342245ENST00000426868SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000342245ENST00000379673SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000342245ENST00000355779SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000342245ENST00000358477SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000342245ENST00000447043SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-intronENST00000342245ENST00000494529SMPD1chr11

6412128

+TRPC4chr13

38443784

-
intron-5UTRENST00000533196ENST00000379705SMPD1chr11

6412128

+TRPC4chr13

38443784

-
intron-5UTRENST00000533196ENST00000379681SMPD1chr11

6412128

+TRPC4chr13

38443784

-
intron-5UTRENST00000533196ENST00000338947SMPD1chr11

6412128

+TRPC4chr13

38443784

-
intron-intronENST00000533196ENST00000379679SMPD1chr11

6412128

+TRPC4chr13

38443784

-
intron-5UTRENST00000533196ENST00000426868SMPD1chr11

6412128

+TRPC4chr13

38443784

-
intron-5UTRENST00000533196ENST00000379673SMPD1chr11

6412128

+TRPC4chr13

38443784

-
intron-5UTRENST00000533196ENST00000355779SMPD1chr11

6412128

+TRPC4chr13

38443784

-
intron-5UTRENST00000533196ENST00000358477SMPD1chr11

6412128

+TRPC4chr13

38443784

-
intron-5UTRENST00000533196ENST00000447043SMPD1chr11

6412128

+TRPC4chr13

38443784

-
intron-intronENST00000533196ENST00000494529SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000527275ENST00000379705SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000527275ENST00000379681SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000527275ENST00000338947SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-intronENST00000527275ENST00000379679SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000527275ENST00000426868SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000527275ENST00000379673SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000527275ENST00000355779SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000527275ENST00000358477SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-5UTRENST00000527275ENST00000447043SMPD1chr11

6412128

+TRPC4chr13

38443784

-
5CDS-intronENST00000527275ENST00000494529SMPD1chr11

6412128

+TRPC4chr13

38443784

-

Top

FusionProtFeatures for SMPD1_TRPC4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SMPD1

P17405

TRPC4

Q9UBN4

Converts sphingomyelin to ceramide (PubMed:1840600,PubMed:18815062, PubMed:27659707, PubMed:25920558). Also hasphospholipase C activities toward 1,2-diacylglycerolphosphocholineand 1,2-diacylglycerolphosphoglycerol.{ECO:0000269|PubMed:1840600, ECO:0000269|PubMed:18815062,ECO:0000269|PubMed:25920558, ECO:0000269|PubMed:27659707,ECO:0000305}. Isoform 2 lacks residues that bind the cofactor Zn(2+)and has no enzyme activity. {ECO:0000269|PubMed:1840600,ECO:0000305}. Isoform 3 lacks residues that bind the cofactor Zn(2+)and has no enzyme activity. {ECO:0000269|PubMed:1840600,ECO:0000305}.

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 SMPD1_TRPC4


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 SMPD1_TRPC4


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


Top

RelatedDrugs for SMPD1_TRPC4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneSMPD1P17405DB00381AmlodipineSphingomyelin phosphodiesterasesmall moleculeapproved
HgeneSMPD1P17405DB01151DesipramineSphingomyelin phosphodiesterasesmall moleculeapproved|investigational
HgeneSMPD1P17405DB00477ChlorpromazineSphingomyelin phosphodiesterasesmall moleculeapproved|investigational|vet_approved

Top

RelatedDiseases for SMPD1_TRPC4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSMPD1C0268243Niemann-Pick Disease, Type B25CTD_human;ORPHANET;UNIPROT
HgeneSMPD1C0268242Niemann-Pick Disease, Type A20CTD_human;ORPHANET;UNIPROT
HgeneSMPD1C0027626Neoplasm Invasiveness1CTD_human
HgeneSMPD1C0028064Niemann-Pick Diseases1CTD_human