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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: 34962

FusionGeneSummary for SMPD3_MEIOB

check button Fusion gene summary
Fusion gene informationFusion gene name: SMPD3_MEIOB
Fusion gene ID: 34962
HgeneTgene
Gene symbol

SMPD3

MEIOB

Gene ID

55512

254528

Gene namesphingomyelin phosphodiesterase 3meiosis specific with OB domains
SynonymsNSMASE2C16orf73|SPGF22|gs129
Cytomap

16q22.1

16p13.3

Type of geneprotein-codingprotein-coding
Descriptionsphingomyelin phosphodiesterase 3nSMase-2neutral sphingomyelinase 2neutral sphingomyelinase IImeiosis-specific with OB domain-containing protein
Modification date2018052220180523
UniProtAcc

Q9NY59

Q8N635

Ensembl transtripts involved in fusion geneENST00000219334, ENST00000568373, 
ENST00000563226, ENST00000566009, 
ENST00000412554, ENST00000452149, 
ENST00000470044, ENST00000325962, 
ENST00000397344, ENST00000563416, 
Fusion gene scores* DoF score3 X 3 X 3=273 X 2 X 2=12
# samples 33
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SMPD3 [Title/Abstract] AND MEIOB [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

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
TCGALDLUADTCGA-75-6214-01ASMPD3chr16

68482256

-MEIOBchr16

1912117

-
* 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
5UTR-3CDSENST00000219334ENST00000412554SMPD3chr16

68482256

-MEIOBchr16

1912117

-
5UTR-3CDSENST00000219334ENST00000452149SMPD3chr16

68482256

-MEIOBchr16

1912117

-
5UTR-5UTRENST00000219334ENST00000470044SMPD3chr16

68482256

-MEIOBchr16

1912117

-
5UTR-5UTRENST00000219334ENST00000325962SMPD3chr16

68482256

-MEIOBchr16

1912117

-
5UTR-5UTRENST00000219334ENST00000397344SMPD3chr16

68482256

-MEIOBchr16

1912117

-
5UTR-intronENST00000219334ENST00000563416SMPD3chr16

68482256

-MEIOBchr16

1912117

-
intron-3CDSENST00000568373ENST00000412554SMPD3chr16

68482256

-MEIOBchr16

1912117

-
intron-3CDSENST00000568373ENST00000452149SMPD3chr16

68482256

-MEIOBchr16

1912117

-
intron-5UTRENST00000568373ENST00000470044SMPD3chr16

68482256

-MEIOBchr16

1912117

-
intron-5UTRENST00000568373ENST00000325962SMPD3chr16

68482256

-MEIOBchr16

1912117

-
intron-5UTRENST00000568373ENST00000397344SMPD3chr16

68482256

-MEIOBchr16

1912117

-
intron-intronENST00000568373ENST00000563416SMPD3chr16

68482256

-MEIOBchr16

1912117

-
intron-3CDSENST00000563226ENST00000412554SMPD3chr16

68482256

-MEIOBchr16

1912117

-
intron-3CDSENST00000563226ENST00000452149SMPD3chr16

68482256

-MEIOBchr16

1912117

-
intron-5UTRENST00000563226ENST00000470044SMPD3chr16

68482256

-MEIOBchr16

1912117

-
intron-5UTRENST00000563226ENST00000325962SMPD3chr16

68482256

-MEIOBchr16

1912117

-
intron-5UTRENST00000563226ENST00000397344SMPD3chr16

68482256

-MEIOBchr16

1912117

-
intron-intronENST00000563226ENST00000563416SMPD3chr16

68482256

-MEIOBchr16

1912117

-
intron-3CDSENST00000566009ENST00000412554SMPD3chr16

68482256

-MEIOBchr16

1912117

-
intron-3CDSENST00000566009ENST00000452149SMPD3chr16

68482256

-MEIOBchr16

1912117

-
intron-5UTRENST00000566009ENST00000470044SMPD3chr16

68482256

-MEIOBchr16

1912117

-
intron-5UTRENST00000566009ENST00000325962SMPD3chr16

68482256

-MEIOBchr16

1912117

-
intron-5UTRENST00000566009ENST00000397344SMPD3chr16

68482256

-MEIOBchr16

1912117

-
intron-intronENST00000566009ENST00000563416SMPD3chr16

68482256

-MEIOBchr16

1912117

-

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FusionProtFeatures for SMPD3_MEIOB


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SMPD3

Q9NY59

MEIOB

Q8N635

Catalyzes the hydrolysis of sphingomyelin to formceramide and phosphocholine. Ceramide mediates numerous cellularfunctions, such as apoptosis and growth arrest, and is capable ofregulating these 2 cellular events independently. Also hydrolyzessphingosylphosphocholine. Regulates the cell cycle by acting as agrowth suppressor in confluent cells. Probably acts as a regulatorof postnatal development and participates in bone and dentinmineralization. {ECO:0000269|PubMed:10823942,ECO:0000269|PubMed:14741383, ECO:0000269|PubMed:15051724}. Single-stranded DNA-binding protein required forhomologous recombination in meiosis I. Required for double strandbreaks (DSBs) repair and crossover formation and promotion offaithful and complete synapsis. Not required for the initialloading of recombinases but required to maintain a proper numberof RAD51 and DMC1 foci after the zygotene stage. May act byensuring the stabilization of recombinases, which is required forsuccessful homology search and meiotic recombination. DisplaysSingle-stranded DNA 3'-5' exonuclease activity in vitro (Bysimilarity). {ECO:0000250}.

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 SMPD3_MEIOB


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 SMPD3_MEIOB


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
SMPD3CAV1, ENDOD1, STOM, TMEM135, PPP3R1, ATP6V0A1, SOAT1, PPP3CA, APOB, EED, GNB2L1MEIOBHECW2, GAPDHS, FAM107A


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 SMPD3_MEIOB


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 SMPD3_MEIOB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSMPD3C0023418leukemia1CTD_human
HgeneSMPD3C3463824MYELODYSPLASTIC SYNDROME1CTD_human