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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: 33587

FusionGeneSummary for SGPP2_ABCA12

check button Fusion gene summary
Fusion gene informationFusion gene name: SGPP2_ABCA12
Fusion gene ID: 33587
HgeneTgene
Gene symbol

SGPP2

ABCA12

Gene ID

130367

26154

Gene namesphingosine-1-phosphate phosphatase 2ATP binding cassette subfamily A member 12
SynonymsSPP2|SPPase2ARCI4A|ARCI4B|ICR2B|LI2
Cytomap

2q36.1

2q35

Type of geneprotein-codingprotein-coding
Descriptionsphingosine-1-phosphate phosphatase 2sphingosine 1-phosphate phosphohydrolase 2sphingosine-1-phosphatase 2sphingosine-1-phosphate phosphotase 2ATP-binding cassette sub-family A member 12ATP-binding cassette transporter 12ATP-binding cassette, sub-family A (ABC1), member 12
Modification date2018032920180523
UniProtAcc

Q8IWX5

Q86UK0

Ensembl transtripts involved in fusion geneENST00000321276, ENST00000272895, 
ENST00000389661, ENST00000412081, 
Fusion gene scores* DoF score4 X 3 X 4=482 X 2 X 2=8
# samples 42
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: SGPP2 [Title/Abstract] AND ABCA12 [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
HgeneSGPP2

GO:0006670

sphingosine metabolic process

12411432

TgeneABCA12

GO:0006869

lipid transport

16007253

TgeneABCA12

GO:0010875

positive regulation of cholesterol efflux

23931754

TgeneABCA12

GO:0072659

protein localization to plasma membrane

23931754


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
TCGARVESCATCGA-VR-A8EU-01ASGPP2chr2

223289540

+ABCA12chr2

215882856

-
* 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
Frame-shiftENST00000321276ENST00000272895SGPP2chr2

223289540

+ABCA12chr2

215882856

-
Frame-shiftENST00000321276ENST00000389661SGPP2chr2

223289540

+ABCA12chr2

215882856

-
5CDS-intronENST00000321276ENST00000412081SGPP2chr2

223289540

+ABCA12chr2

215882856

-

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FusionProtFeatures for SGPP2_ABCA12


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SGPP2

Q8IWX5

ABCA12

Q86UK0

Has specific phosphohydrolase activity towards sphingoidbase 1-phosphates. Has high phosphohydrolase activity againstdihydrosphingosine-1-phosphate and sphingosine-1-phosphate (S1P)in vitro. May play a role in attenuating intracellular sphingosine1-phosphate (S1P) signaling. May play a role in pro-inflammatorysignaling. {ECO:0000269|PubMed:12411432,ECO:0000269|PubMed:17113265}. Probable transporter involved in lipid homeostasis.

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 SGPP2_ABCA12


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 SGPP2_ABCA12


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
SGPP2ABCA12


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 SGPP2_ABCA12


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 SGPP2_ABCA12


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneABCA12C1832550Lamellar ichthyosis, type 25CTD_human;UNIPROT
TgeneABCA12C0598226Harlequin type ichthyosis3CTD_human;ORPHANET;UNIPROT
TgeneABCA12C0009404Colorectal Neoplasms1CTD_human
TgeneABCA12C0079154Congenital Nonbullous Ichthyosiform Erythroderma1CTD_human;ORPHANET