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Fusion gene ID: 35784 |
FusionGeneSummary for SPPL3_CD99L2 |
Fusion gene summary |
Fusion gene information | Fusion gene name: SPPL3_CD99L2 | Fusion gene ID: 35784 | Hgene | Tgene | Gene symbol | SPPL3 | CD99L2 | Gene ID | 121665 | 83692 |
Gene name | signal peptide peptidase like 3 | CD99 molecule like 2 | |
Synonyms | IMP2|MDHV1887|PRO4332|PSH1|PSL4 | CD99B|MIC2L1 | |
Cytomap | 12q24.31 | Xq28 | |
Type of gene | protein-coding | protein-coding | |
Description | signal peptide peptidase-like 3SPP-like 3intramembrane protease 2presenilin homologous protein 1presenilin-like protein 4 | CD99 antigen-like protein 2MIC2 like 1MIC2-like protein 1 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q8TCT6 | Q8TCZ2 | |
Ensembl transtripts involved in fusion gene | ENST00000353487, | ENST00000346693, ENST00000370377, ENST00000355149, ENST00000437787, ENST00000466436, ENST00000320893, | |
Fusion gene scores | * DoF score | 12 X 4 X 7=336 | 2 X 2 X 2=8 |
# samples | 11 | 2 | |
** MAII score | log2(11/336*10)=-1.6109577092541 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: SPPL3 [Title/Abstract] AND CD99L2 [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 | SPPL3 | GO:0033619 | membrane protein proteolysis | 2313285 |
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 | LD | BRCA | TCGA-BH-A0AV-01A | SPPL3 | chr12 | 121341648 | - | CD99L2 | chrX | 149999766 | - |
* 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 |
5CDS-5UTR | ENST00000353487 | ENST00000346693 | SPPL3 | chr12 | 121341648 | - | CD99L2 | chrX | 149999766 | - |
5CDS-5UTR | ENST00000353487 | ENST00000370377 | SPPL3 | chr12 | 121341648 | - | CD99L2 | chrX | 149999766 | - |
5CDS-5UTR | ENST00000353487 | ENST00000355149 | SPPL3 | chr12 | 121341648 | - | CD99L2 | chrX | 149999766 | - |
5CDS-5UTR | ENST00000353487 | ENST00000437787 | SPPL3 | chr12 | 121341648 | - | CD99L2 | chrX | 149999766 | - |
5CDS-5UTR | ENST00000353487 | ENST00000466436 | SPPL3 | chr12 | 121341648 | - | CD99L2 | chrX | 149999766 | - |
5CDS-5UTR | ENST00000353487 | ENST00000320893 | SPPL3 | chr12 | 121341648 | - | CD99L2 | chrX | 149999766 | - |
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FusionProtFeatures for SPPL3_CD99L2 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
SPPL3 | CD99L2 |
Intramembrane-cleaving aspartic protease (I-CLiP) thatcleaves type II membrane protein substrates in or close to theirluminal transmembrane domain boundaries (PubMed:16873890,PubMed:25354954, PubMed:25827571). Acts like a sheddase bymediating the proteolytic release and secretion of active site-containing ectodomains of glycan-modifiying glycosidase andglycosyltransferase enzymes such as MGAT5, B4GAT1 and B4GALT1(PubMed:25354954, PubMed:25827571). Catalyzes the intramembranecleavage of the envelope glycoprotein gp130 and/or the leaderpeptide gp18LP of the simian foamy virus independent of priorectodomain shedding by furin or furin-like proprotein convertase(PC)-mediated cleavage proteolysis (PubMed:23132852). May alsohave the ability to serve as a shedding protease for subsequentintramembrane proteolysis by SPPL2A and SPPL2B of the envelopeglycoprotein gp130 (PubMed:23132852). Plays a role in theregulation of cellular glycosylation processes (PubMed:25354954).Required to link T-cell antigen receptor (TCR) and calcineurin-NFAT signaling cascades in lymphocytes by promoting theassociation of STIM1 and ORAI1 during store-operated calcium entry(SOCE) in a protease-independent manner (PubMed:25384971).{ECO:0000269|PubMed:16873890, ECO:0000269|PubMed:23132852,ECO:0000269|PubMed:25354954, ECO:0000269|PubMed:25384971,ECO:0000269|PubMed:25827571}. |
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 SPPL3_CD99L2 |
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 SPPL3_CD99L2 |
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 |
SPPL3 | ELAVL1, CHRND, YIPF3, SLC2A12, SPPL2B, SLC6A15, GPR114, P2RX2, HTR3A, SLC15A1, TPRA1, PDCD1, SLC39A8, SLC22A16, SLC1A5, C3AR1, SLC18A1 | CD99L2 | UBQLN1, TMEM216, ATM, MKNK2, KIF2A, LLGL2, VPS26A, FAN1, POLK, KIF21A, DNAJC11, CDCA5, KLC3, ARX, CEP170P1, CAPN1 |
- 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 SPPL3_CD99L2 |
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 SPPL3_CD99L2 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |