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Fusion gene ID: 33587 |
FusionGeneSummary for SGPP2_ABCA12 |
Fusion gene summary |
Fusion gene information | Fusion gene name: SGPP2_ABCA12 | Fusion gene ID: 33587 | Hgene | Tgene | Gene symbol | SGPP2 | ABCA12 | Gene ID | 130367 | 26154 |
Gene name | sphingosine-1-phosphate phosphatase 2 | ATP binding cassette subfamily A member 12 | |
Synonyms | SPP2|SPPase2 | ARCI4A|ARCI4B|ICR2B|LI2 | |
Cytomap | 2q36.1 | 2q35 | |
Type of gene | protein-coding | protein-coding | |
Description | sphingosine-1-phosphate phosphatase 2sphingosine 1-phosphate phosphohydrolase 2sphingosine-1-phosphatase 2sphingosine-1-phosphate phosphotase 2 | ATP-binding cassette sub-family A member 12ATP-binding cassette transporter 12ATP-binding cassette, sub-family A (ABC1), member 12 | |
Modification date | 20180329 | 20180523 | |
UniProtAcc | Q8IWX5 | Q86UK0 | |
Ensembl transtripts involved in fusion gene | ENST00000321276, | ENST00000272895, ENST00000389661, ENST00000412081, | |
Fusion gene scores | * DoF score | 4 X 3 X 4=48 | 2 X 2 X 2=8 |
# samples | 4 | 2 | |
** MAII score | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | SGPP2 | GO:0006670 | sphingosine metabolic process | 12411432 |
Tgene | ABCA12 | GO:0006869 | lipid transport | 16007253 |
Tgene | ABCA12 | GO:0010875 | positive regulation of cholesterol efflux | 23931754 |
Tgene | ABCA12 | GO:0072659 | protein localization to plasma membrane | 23931754 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | ESCA | TCGA-VR-A8EU-01A | SGPP2 | chr2 | 223289540 | + | ABCA12 | chr2 | 215882856 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000321276 | ENST00000272895 | SGPP2 | chr2 | 223289540 | + | ABCA12 | chr2 | 215882856 | - |
Frame-shift | ENST00000321276 | ENST00000389661 | SGPP2 | chr2 | 223289540 | + | ABCA12 | chr2 | 215882856 | - |
5CDS-intron | ENST00000321276 | ENST00000412081 | SGPP2 | chr2 | 223289540 | + | ABCA12 | chr2 | 215882856 | - |
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FusionProtFeatures for SGPP2_ABCA12 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
SGPP2 | ABCA12 |
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. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for SGPP2_ABCA12 |
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 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
SGPP2 | ABCA12 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SGPP2_ABCA12 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SGPP2_ABCA12 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | ABCA12 | C1832550 | Lamellar ichthyosis, type 2 | 5 | CTD_human;UNIPROT |
Tgene | ABCA12 | C0598226 | Harlequin type ichthyosis | 3 | CTD_human;ORPHANET;UNIPROT |
Tgene | ABCA12 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
Tgene | ABCA12 | C0079154 | Congenital Nonbullous Ichthyosiform Erythroderma | 1 | CTD_human;ORPHANET |