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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: 34966

FusionGeneSummary for SMPD4_MTCH1

check button Fusion gene summary
Fusion gene informationFusion gene name: SMPD4_MTCH1
Fusion gene ID: 34966
HgeneTgene
Gene symbol

SMPD4

MTCH1

Gene ID

55627

23787

Gene namesphingomyelin phosphodiesterase 4mitochondrial carrier 1
SynonymsNET13|NSMASE-3|NSMASE3|SKNYCGI-64|PIG60|PSAP|SLC25A49
Cytomap

2q21.1

6p21.2

Type of geneprotein-codingprotein-coding
Descriptionsphingomyelin phosphodiesterase 4neutral sphingomyelinase 3neutral sphingomyelinase IIIsphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)mitochondrial carrier homolog 1cell proliferation-inducing protein 60presenilin-associated proteinsolute carrier family 25, member 49
Modification date2018051920180523
UniProtAcc

Q9NXE4

Q9NZJ7

Ensembl transtripts involved in fusion geneENST00000351288, ENST00000453750, 
ENST00000409031, ENST00000431183, 
ENST00000443958, ENST00000339679, 
ENST00000452225, ENST00000426662, 
ENST00000473720, 
ENST00000373627, 
ENST00000373616, ENST00000471737, 
ENST00000538808, 
Fusion gene scores* DoF score2 X 2 X 1=47 X 8 X 1=56
# samples 38
** MAII scorelog2(3/4*10)=2.90689059560852log2(8/56*10)=0.514573172829758
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SMPD4 [Title/Abstract] AND MTCH1 [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
HgeneSMPD4

GO:0006685

sphingomyelin catabolic process

16517606

HgeneSMPD4

GO:0046475

glycerophospholipid catabolic process

16517606

HgeneSMPD4

GO:0046513

ceramide biosynthetic process

16517606

HgeneSMPD4

GO:0071356

cellular response to tumor necrosis factor

16517606


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
ChiTaRS3.1AK126162SMPD4chr2

130919680

-MTCH1chr6

36936476

-
* 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-3UTRENST00000351288ENST00000373627SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-3UTRENST00000351288ENST00000373616SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-intronENST00000351288ENST00000471737SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-intronENST00000351288ENST00000538808SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-3UTRENST00000453750ENST00000373627SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-3UTRENST00000453750ENST00000373616SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-intronENST00000453750ENST00000471737SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-intronENST00000453750ENST00000538808SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-3UTRENST00000409031ENST00000373627SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-3UTRENST00000409031ENST00000373616SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-intronENST00000409031ENST00000471737SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-intronENST00000409031ENST00000538808SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-3UTRENST00000431183ENST00000373627SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-3UTRENST00000431183ENST00000373616SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-intronENST00000431183ENST00000471737SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-intronENST00000431183ENST00000538808SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-3UTRENST00000443958ENST00000373627SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-3UTRENST00000443958ENST00000373616SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-intronENST00000443958ENST00000471737SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-intronENST00000443958ENST00000538808SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-3UTRENST00000339679ENST00000373627SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-3UTRENST00000339679ENST00000373616SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-intronENST00000339679ENST00000471737SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-intronENST00000339679ENST00000538808SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-3UTRENST00000452225ENST00000373627SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-3UTRENST00000452225ENST00000373616SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-intronENST00000452225ENST00000471737SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-intronENST00000452225ENST00000538808SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-3UTRENST00000426662ENST00000373627SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-3UTRENST00000426662ENST00000373616SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-intronENST00000426662ENST00000471737SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-intronENST00000426662ENST00000538808SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-3UTRENST00000473720ENST00000373627SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-3UTRENST00000473720ENST00000373616SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-intronENST00000473720ENST00000471737SMPD4chr2

130919680

-MTCH1chr6

36936476

-
intron-intronENST00000473720ENST00000538808SMPD4chr2

130919680

-MTCH1chr6

36936476

-

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FusionProtFeatures for SMPD4_MTCH1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SMPD4

Q9NXE4

MTCH1

Q9NZJ7


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 SMPD4_MTCH1


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 SMPD4_MTCH1


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 SMPD4_MTCH1


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 SMPD4_MTCH1


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