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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: 34958

FusionGeneSummary for SMPD1_SMPD1

check button Fusion gene summary
Fusion gene informationFusion gene name: SMPD1_SMPD1
Fusion gene ID: 34958
HgeneTgene
Gene symbol

SMPD1

SMPD1

Gene ID

6609

6609

Gene namesphingomyelin phosphodiesterase 1sphingomyelin phosphodiesterase 1
SynonymsASM|ASMASE|NPDASM|ASMASE|NPD
Cytomap

11p15.4

11p15.4

Type of geneprotein-codingprotein-coding
Descriptionsphingomyelin phosphodiesteraseacid sphingomyelinasesphingomyelin phosphodiesterase 1, acid lysosomalsphingomyelin phosphodiesteraseacid sphingomyelinasesphingomyelin phosphodiesterase 1, acid lysosomal
Modification date2018052320180523
UniProtAcc

P17405

P17405

Ensembl transtripts involved in fusion geneENST00000356761, ENST00000299397, 
ENST00000342245, ENST00000533196, 
ENST00000527275, 		ENST00000356761, 
ENST00000299397, ENST00000342245, 
ENST00000533196, ENST00000527275, 
Fusion gene scores* DoF score2 X 2 X 1=44 X 4 X 2=32
# samples 25
** MAII scorelog2(2/4*10)=2.32192809488736log2(5/32*10)=0.643856189774725
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SMPD1 [Title/Abstract] AND SMPD1 [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

TgeneSMPD1

GO:0006685

sphingomyelin catabolic process

18815062

TgeneSMPD1

GO:0046513

ceramide biosynthetic process

18815062


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
ChiTaRS3.1BF853689SMPD1chr11

6414495

-SMPD1chr11

6415198

+
* 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-3CDSENST00000356761ENST00000356761SMPD1chr11

6414495

-SMPD1chr11

6415198

+
intron-3CDSENST00000356761ENST00000299397SMPD1chr11

6414495

-SMPD1chr11

6415198

+
intron-3CDSENST00000356761ENST00000342245SMPD1chr11

6414495

-SMPD1chr11

6415198

+
intron-intronENST00000356761ENST00000533196SMPD1chr11

6414495

-SMPD1chr11

6415198

+
intron-intronENST00000356761ENST00000527275SMPD1chr11

6414495

-SMPD1chr11

6415198

+
intron-3CDSENST00000299397ENST00000356761SMPD1chr11

6414495

-SMPD1chr11

6415198

+
intron-3CDSENST00000299397ENST00000299397SMPD1chr11

6414495

-SMPD1chr11

6415198

+
intron-3CDSENST00000299397ENST00000342245SMPD1chr11

6414495

-SMPD1chr11

6415198

+
intron-intronENST00000299397ENST00000533196SMPD1chr11

6414495

-SMPD1chr11

6415198

+
intron-intronENST00000299397ENST00000527275SMPD1chr11

6414495

-SMPD1chr11

6415198

+
Frame-shiftENST00000342245ENST00000356761SMPD1chr11

6414495

-SMPD1chr11

6415198

+
Frame-shiftENST00000342245ENST00000299397SMPD1chr11

6414495

-SMPD1chr11

6415198

+
Frame-shiftENST00000342245ENST00000342245SMPD1chr11

6414495

-SMPD1chr11

6415198

+
5CDS-intronENST00000342245ENST00000533196SMPD1chr11

6414495

-SMPD1chr11

6415198

+
5CDS-intronENST00000342245ENST00000527275SMPD1chr11

6414495

-SMPD1chr11

6415198

+
intron-3CDSENST00000533196ENST00000356761SMPD1chr11

6414495

-SMPD1chr11

6415198

+
intron-3CDSENST00000533196ENST00000299397SMPD1chr11

6414495

-SMPD1chr11

6415198

+
intron-3CDSENST00000533196ENST00000342245SMPD1chr11

6414495

-SMPD1chr11

6415198

+
intron-intronENST00000533196ENST00000533196SMPD1chr11

6414495

-SMPD1chr11

6415198

+
intron-intronENST00000533196ENST00000527275SMPD1chr11

6414495

-SMPD1chr11

6415198

+
Frame-shiftENST00000527275ENST00000356761SMPD1chr11

6414495

-SMPD1chr11

6415198

+
Frame-shiftENST00000527275ENST00000299397SMPD1chr11

6414495

-SMPD1chr11

6415198

+
Frame-shiftENST00000527275ENST00000342245SMPD1chr11

6414495

-SMPD1chr11

6415198

+
5CDS-intronENST00000527275ENST00000533196SMPD1chr11

6414495

-SMPD1chr11

6415198

+
5CDS-intronENST00000527275ENST00000527275SMPD1chr11

6414495

-SMPD1chr11

6415198

+

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FusionProtFeatures for SMPD1_SMPD1


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

P17405

SMPD1

P17405

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}. 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


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FusionGeneSequence for SMPD1_SMPD1


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 SMPD1_SMPD1


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 SMPD1_SMPD1


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
TgeneSMPD1P17405DB00381AmlodipineSphingomyelin phosphodiesterasesmall moleculeapproved
TgeneSMPD1P17405DB01151DesipramineSphingomyelin phosphodiesterasesmall moleculeapproved|investigational
TgeneSMPD1P17405DB00477ChlorpromazineSphingomyelin phosphodiesterasesmall moleculeapproved|investigational|vet_approved

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RelatedDiseases for SMPD1_SMPD1


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
TgeneSMPD1C0268243Niemann-Pick Disease, Type B25CTD_human;ORPHANET;UNIPROT
TgeneSMPD1C0268242Niemann-Pick Disease, Type A20CTD_human;ORPHANET;UNIPROT
TgeneSMPD1C0027626Neoplasm Invasiveness1CTD_human
TgeneSMPD1C0028064Niemann-Pick Diseases1CTD_human