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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: 35784

FusionGeneSummary for SPPL3_CD99L2

check button Fusion gene summary
Fusion gene informationFusion gene name: SPPL3_CD99L2
Fusion gene ID: 35784
HgeneTgene
Gene symbol

SPPL3

CD99L2

Gene ID

121665

83692

Gene namesignal peptide peptidase like 3CD99 molecule like 2
SynonymsIMP2|MDHV1887|PRO4332|PSH1|PSL4CD99B|MIC2L1
Cytomap

12q24.31

Xq28

Type of geneprotein-codingprotein-coding
Descriptionsignal peptide peptidase-like 3SPP-like 3intramembrane protease 2presenilin homologous protein 1presenilin-like protein 4CD99 antigen-like protein 2MIC2 like 1MIC2-like protein 1
Modification date2018052320180519
UniProtAcc

Q8TCT6

Q8TCZ2

Ensembl transtripts involved in fusion geneENST00000353487, ENST00000346693, 
ENST00000370377, ENST00000355149, 
ENST00000437787, ENST00000466436, 
ENST00000320893, 
Fusion gene scores* DoF score12 X 4 X 7=3362 X 2 X 2=8
# samples 112
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneSPPL3

GO:0033619

membrane protein proteolysis

2313285


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
TCGALDBRCATCGA-BH-A0AV-01ASPPL3chr12

121341648

-CD99L2chrX

149999766

-
* 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
5CDS-5UTRENST00000353487ENST00000346693SPPL3chr12

121341648

-CD99L2chrX

149999766

-
5CDS-5UTRENST00000353487ENST00000370377SPPL3chr12

121341648

-CD99L2chrX

149999766

-
5CDS-5UTRENST00000353487ENST00000355149SPPL3chr12

121341648

-CD99L2chrX

149999766

-
5CDS-5UTRENST00000353487ENST00000437787SPPL3chr12

121341648

-CD99L2chrX

149999766

-
5CDS-5UTRENST00000353487ENST00000466436SPPL3chr12

121341648

-CD99L2chrX

149999766

-
5CDS-5UTRENST00000353487ENST00000320893SPPL3chr12

121341648

-CD99L2chrX

149999766

-

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FusionProtFeatures for SPPL3_CD99L2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SPPL3

Q8TCT6

CD99L2

Q8TCZ2

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}.

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 SPPL3_CD99L2


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 SPPL3_CD99L2


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
SPPL3ELAVL1, CHRND, YIPF3, SLC2A12, SPPL2B, SLC6A15, GPR114, P2RX2, HTR3A, SLC15A1, TPRA1, PDCD1, SLC39A8, SLC22A16, SLC1A5, C3AR1, SLC18A1CD99L2UBQLN1, TMEM216, ATM, MKNK2, KIF2A, LLGL2, VPS26A, FAN1, POLK, KIF21A, DNAJC11, CDCA5, KLC3, ARX, CEP170P1, CAPN1


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 SPPL3_CD99L2


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 SPPL3_CD99L2


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