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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: 36628

FusionGeneSummary for STX12_USP48

check button Fusion gene summary
Fusion gene informationFusion gene name: STX12_USP48
Fusion gene ID: 36628
HgeneTgene
Gene symbol

STX12

USP48

Gene ID

23673

84196

Gene namesyntaxin 12ubiquitin specific peptidase 48
SynonymsSTX13|STX14RAP1GA1|USP31
Cytomap

1p35.3

1p36.12

Type of geneprotein-codingprotein-coding
Descriptionsyntaxin-12ubiquitin carboxyl-terminal hydrolase 48deubiquitinating enzyme 48ubiquitin specific protease 31ubiquitin thioesterase 48ubiquitin thiolesterase 48ubiquitin-specific-processing protease 48
Modification date2018052320180522
UniProtAcc

Q86Y82

Q86UV5

Ensembl transtripts involved in fusion geneENST00000373943, ENST00000468761, 
ENST00000400301, ENST00000308271, 
ENST00000374732, ENST00000529637, 
ENST00000479177, ENST00000421625, 
Fusion gene scores* DoF score4 X 5 X 4=807 X 8 X 6=336
# samples 58
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/336*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: STX12 [Title/Abstract] AND USP48 [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
HgeneSTX12

GO:0033344

cholesterol efflux

15469992

HgeneSTX12

GO:0050821

protein stabilization

15469992


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
TCGARVSKCMTCGA-EB-A5SH-06ASTX12chr1

28138779

+USP48chr1

22079612

-
* 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-shitENST00000373943ENST00000400301STX12chr1

28138779

+USP48chr1

22079612

-
Frame-shitENST00000373943ENST00000308271STX12chr1

28138779

+USP48chr1

22079612

-
5CDS-intronENST00000373943ENST00000374732STX12chr1

28138779

+USP48chr1

22079612

-
5CDS-intronENST00000373943ENST00000529637STX12chr1

28138779

+USP48chr1

22079612

-
5CDS-intronENST00000373943ENST00000479177STX12chr1

28138779

+USP48chr1

22079612

-
5CDS-intronENST00000373943ENST00000421625STX12chr1

28138779

+USP48chr1

22079612

-
intron-3CDSENST00000468761ENST00000400301STX12chr1

28138779

+USP48chr1

22079612

-
intron-3CDSENST00000468761ENST00000308271STX12chr1

28138779

+USP48chr1

22079612

-
intron-intronENST00000468761ENST00000374732STX12chr1

28138779

+USP48chr1

22079612

-
intron-intronENST00000468761ENST00000529637STX12chr1

28138779

+USP48chr1

22079612

-
intron-intronENST00000468761ENST00000479177STX12chr1

28138779

+USP48chr1

22079612

-
intron-intronENST00000468761ENST00000421625STX12chr1

28138779

+USP48chr1

22079612

-

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FusionProtFeatures for STX12_USP48


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
STX12

Q86Y82

USP48

Q86UV5

SNARE that acts to regulate protein transport betweenlate endosomes and the trans-Golgi network. The SNARE complexcontaining STX6, STX12, VAMP4 and VTI1A mediates vesicle fusion(in vitro) (By similarity). Through complex formation with GRIP1,GRIA2 and NSG1 controls the intracellular fate of AMPAR and theendosomal sorting of the GRIA2 subunit toward recycling andmembrane targeting (By similarity). {ECO:0000250,ECO:0000250|UniProtKB:G3V7P1}.

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 STX12_USP48


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 STX12_USP48


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
STX12NAPA, SNAP23, BLOC1S6, EEA1, SNAP25, SNAP29, NSF, ABCA1, ELAVL1, HGS, ATP6V1B1, GOSR1, NDUFS1, ATP4A, STX4, DTX2, MOV10, VTI1B, STX6, STX7, EIF2B5, RNF13, KIAA1467, YKT6, EIF2B1, BNIP1, EIF2B4, GOLGA2, BZW2, ZKSCAN1, VPS45, NAPB, USE1, STX18, SCFD2, NOP14, GORASP1, NAPG, STX5, STXBP5, NBAS, STX10, ITFG3, TXLNA, TBC1D15, SNAP47, MOSPD2, TBK1, NOC4L, VTI1A, OPTN, ADPGK, EIF2B3, TBC1D17, VAMP4, STX8, GOSR2, VAMP2, VAMP3, EIF2B2, VAMP8, PRMT9, FRMD5, VAMP7, ZNF219, ACP2, CCDC138, F3, TNFRSF10B, OPN4, BET1, EHD1, ANXA11, ATP5L, CISD1, RAB1A, RAB1B, RAP1B, RER1, TM9SF4, VDAC1, VDAC2, VDAC3, EWSR1, TMEM17, TMEM216, MYH9, TMEM258, TRDN, STXBP6, SLC7A1, SEC22B, COG6, LMNAUSP48USP21, EEF1B2P5, APP, UCHL3, ZC3HAV1, ZFR, UBA6, UACA, VPS35, UBC, PSAP, SEC24D, BRAT1, DRD3, SLC9A3, SIRT6, GPS1, CSNK2A1, DYNC1LI1, NCBP2, NUP188, NTRK1, HIST1H2BG, HIST1H3A, SNW1, NDUFAF7, NR1D2, RNF123, UBB, HIST1H2BJ, PXK, UBAC1, ZNF232


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 STX12_USP48


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 STX12_USP48


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneUSP48C0236733Amphetamine-Related Disorders1CTD_human