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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: 36627

FusionGeneSummary for STX12_TMEM222

check button Fusion gene summary
Fusion gene informationFusion gene name: STX12_TMEM222
Fusion gene ID: 36627
HgeneTgene
Gene symbol

STX12

TMEM222

Gene ID

23673

84065

Gene namesyntaxin 12transmembrane protein 222
SynonymsSTX13|STX14C1orf160
Cytomap

1p35.3

1p36.11

Type of geneprotein-codingprotein-coding
Descriptionsyntaxin-12transmembrane protein 222
Modification date2018052320180519
UniProtAcc

Q86Y82

Q9H0R3

Ensembl transtripts involved in fusion geneENST00000373943, ENST00000468761, 
ENST00000374076, ENST00000608611, 
Fusion gene scores* DoF score4 X 5 X 4=805 X 2 X 5=50
# samples 55
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/50*10)=0
Context

PubMed: STX12 [Title/Abstract] AND TMEM222 [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
TCGARVLUSCTCGA-66-2758-01ASTX12chr1

28116142

+TMEM222chr1

27657211

+
* 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
In-frameENST00000373943ENST00000374076STX12chr1

28116142

+TMEM222chr1

27657211

+
In-frameENST00000373943ENST00000608611STX12chr1

28116142

+TMEM222chr1

27657211

+
3UTR-3CDSENST00000468761ENST00000374076STX12chr1

28116142

+TMEM222chr1

27657211

+
3UTR-3CDSENST00000468761ENST00000608611STX12chr1

28116142

+TMEM222chr1

27657211

+

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FusionProtFeatures for STX12_TMEM222


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

Q86Y82

TMEM222

Q9H0R3

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
TgeneTMEM222chr1:28116142chr1:27657211ENST00000374076+06186_18664209Topological domainExtracellular
TgeneTMEM222chr1:28116142chr1:27657211ENST00000374076+06208_20864209Topological domainCytoplasmic
TgeneTMEM222chr1:28116142chr1:27657211ENST00000374076+0677_16464209Topological domainCytoplasmic
TgeneTMEM222chr1:28116142chr1:27657211ENST00000374076+06165_18564209TransmembraneHelical
TgeneTMEM222chr1:28116142chr1:27657211ENST00000374076+06187_20764209TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSTX12chr1:28116142chr1:27657211ENST00000373943+2933_13162277Coiled coilOntology_term=ECO:0000255
HgeneSTX12chr1:28116142chr1:27657211ENST00000373943+29178_24062277Domaint-SNARE coiled-coil homology
HgeneSTX12chr1:28116142chr1:27657211ENST00000373943+29270_27662277Topological domainVesicular
HgeneSTX12chr1:28116142chr1:27657211ENST00000373943+292_24862277Topological domainCytoplasmic
HgeneSTX12chr1:28116142chr1:27657211ENST00000373943+29249_26962277TransmembraneHelical%3B Anchor for type IV membrane protein
TgeneTMEM222chr1:28116142chr1:27657211ENST00000374076+061_5564209Topological domainExtracellular
TgeneTMEM222chr1:28116142chr1:27657211ENST00000374076+0656_7664209TransmembraneHelical


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FusionGeneSequence for STX12_TMEM222


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.
>In-frame_STX12_ENST00000373943_chr1_28116142_+_TMEM222_ENST00000374076_chr1_27657211_+_207aa
MSYGPLDMYRNPGPSGPQLRDFSSIIQTCSGNIQRISQATAQIKNLMSQLGTKQDSSKLQENLWFFPIIGHMGICTSTGVIRDFAGPYFV
SEDNMAFGKPAKYWKLDPAQVTASGPNAWDTAVHDASEEYKHRMHNLCCDNCHSHVALALNLMRYNNSTNWNMVTLCFFCLLYGKYVSVG

>In-frame_STX12_ENST00000373943_chr1_28116142_+_TMEM222_ENST00000608611_chr1_27657211_+_207aa
MSYGPLDMYRNPGPSGPQLRDFSSIIQTCSGNIQRISQATAQIKNLMSQLGTKQDSSKLQENLWFFPIIGHMGICTSTGVIRDFAGPYFV
SEDNMAFGKPAKYWKLDPAQVTASGPNAWDTAVHDASEEYKHRMHNLCCDNCHSHVALALNLMRYNNSTNWNMVTLCFFCLLYGKYVSVG


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_STX12_ENST00000373943_chr1_28116142_+_TMEM222_ENST00000374076_chr1_27657211_+_621nt
ATGTCATACGGTCCCTTAGACATGTACCGGAACCCGGGGCCCTCGGGGCCCCAGCTCCGGGACTTCAGCAGCATCATCCAGACGTGCAGC
GGCAACATCCAGCGGATCAGCCAAGCCACTGCTCAGATAAAGAATTTGATGAGCCAGCTAGGAACTAAGCAGGACTCAAGCAAGCTACAG
GAAAATCTGTGGTTTTTCCCCATCATCGGCCACATGGGCATCTGCACATCCACAGGAGTCATTCGGGACTTCGCGGGCCCCTACTTTGTC
TCAGAGGACAACATGGCCTTTGGAAAGCCTGCCAAGTACTGGAAGTTGGACCCTGCTCAGGTCTATGCTAGCGGGCCCAACGCATGGGAC
ACGGCTGTGCACGACGCCTCTGAGGAGTACAAGCACCGCATGCACAATCTCTGCTGTGACAACTGCCACTCGCACGTGGCATTGGCCCTG
AATCTGATGCGCTACAACAACAGCACCAACTGGAATATGGTGACGCTCTGCTTCTTCTGCCTGCTCTACGGGAAGTACGTCAGCGTTGGG

>In-frame_STX12_ENST00000373943_chr1_28116142_+_TMEM222_ENST00000608611_chr1_27657211_+_621nt
ATGTCATACGGTCCCTTAGACATGTACCGGAACCCGGGGCCCTCGGGGCCCCAGCTCCGGGACTTCAGCAGCATCATCCAGACGTGCAGC
GGCAACATCCAGCGGATCAGCCAAGCCACTGCTCAGATAAAGAATTTGATGAGCCAGCTAGGAACTAAGCAGGACTCAAGCAAGCTACAG
GAAAATCTGTGGTTTTTCCCCATCATCGGCCACATGGGCATCTGCACATCCACAGGAGTCATTCGGGACTTCGCGGGCCCCTACTTTGTC
TCAGAGGACAACATGGCCTTTGGAAAGCCTGCCAAGTACTGGAAGTTGGACCCTGCTCAGGTCTATGCTAGCGGGCCCAACGCATGGGAC
ACGGCTGTGCACGACGCCTCTGAGGAGTACAAGCACCGCATGCACAATCTCTGCTGTGACAACTGCCACTCGCACGTGGCATTGGCCCTG
AATCTGATGCGCTACAACAACAGCACCAACTGGAATATGGTGACGCTCTGCTTCTTCTGCCTGCTCTACGGGAAGTACGTCAGCGTTGGG


* Fusion transcript sequences (Full-length transcript).
>In-frame_STX12_ENST00000373943_chr1_28116142_+_TMEM222_ENST00000374076_chr1_27657211_+_1680nt
GCACGCAGCCTTAGCTCCTTCCCCGCCCTTGCTCTTCCCAGTTTCTCCGTCAGCCTGCGGGTCCCGGCTGGCGGCTGCTTCCGGTAGGAG
AGCGGTGTAGAGCGAGCAGGTCTCAGCTCCTCGTCATGTCATACGGTCCCTTAGACATGTACCGGAACCCGGGGCCCTCGGGGCCCCAGC
TCCGGGACTTCAGCAGCATCATCCAGACGTGCAGCGGCAACATCCAGCGGATCAGCCAAGCCACTGCTCAGATAAAGAATTTGATGAGCC
AGCTAGGAACTAAGCAGGACTCAAGCAAGCTACAGGAAAATCTGTGGTTTTTCCCCATCATCGGCCACATGGGCATCTGCACATCCACAG
GAGTCATTCGGGACTTCGCGGGCCCCTACTTTGTCTCAGAGGACAACATGGCCTTTGGAAAGCCTGCCAAGTACTGGAAGTTGGACCCTG
CTCAGGTCTATGCTAGCGGGCCCAACGCATGGGACACGGCTGTGCACGACGCCTCTGAGGAGTACAAGCACCGCATGCACAATCTCTGCT
GTGACAACTGCCACTCGCACGTGGCATTGGCCCTGAATCTGATGCGCTACAACAACAGCACCAACTGGAATATGGTGACGCTCTGCTTCT
TCTGCCTGCTCTACGGGAAGTACGTCAGCGTTGGGGCCTTCGTGAAGACCTGGCTGCCCTTCATCCTTCTCCTGGGCATCATCCTCACCG
TCAGCCTGGTCTTTAACCTCCGGTGATGGCTGCTCGGTGGCCCCACACCCACCAGGGTCCCGAGGAAACAGCCGCCATCCCTTTTGGTTC
CAGATTTTTTTCTCCTCACCCCAAAAGGCAGGGTTGGGCCTGCTGTTGTGGACCGGGGGTCGGGGCTGGCAGGATGGAAGGACTGAGGAC
CAGCATGAAGTGGGGGTTTGTTGTCTCCCTGCCTCTCAGAAGCACCCTGTCCCCTCCTCCCCAGGCCTGTGACTCCGGCCCTGGAAGCCC
CTTTGTTCTTCTGTTGAAAGGCTTTGGCTTCCCGCTGTAGAGCTGCTCCCGCCACCACCTGCTGGGGTCCTGCCTCAGCCCAGTGCCCAG
TATGGGGAGAGGAGGACATTTGGGCTCACCTGTCAAGGTGGCCCTGGGACCAGAGCTGGTCCCAGCATGGGGTGCACCGGGTACACTTAA
CGTGTCTCTATAAGCCAAGTTGCTTCAGGACCTTCACCACTGGCCTCTAGAATGGTCCAGAGGGGCTGGCTGGGTCCCTTTGTCAGACTC
CTGCCGGCAGCTGCCCTGGGGGACATGTGTGCCCATCTGGCATCCTCCAGCCCGTGCAGTCCGCTCTTCACTGTTCCACGGCCTCCCAGT
GCCTCCCAGCATTGGACCCATCTCCCCCTGCAGTTTGAGGCCAGAGAGGTGAGTGGACCTGACAAGTGCCAGAGTAACCGTGTAGACAGA
GCAGTGTAGACAGCACTCAGCCCCAGCCCCAGGTGTGGACCTCATGCTGGTGATGGCTCCCCTGGGTGGCCTGCCAGCACAGCCAGTGCC
ATCAGGGAGCTGAAGGGGCTGTCCCCCACCTAACTCCAGCTCCCCCTTCACGTTGTCACCAAGGCCCTGTGCCGCCCGCCTCGCCCCCCT

>In-frame_STX12_ENST00000373943_chr1_28116142_+_TMEM222_ENST00000608611_chr1_27657211_+_1680nt
GCACGCAGCCTTAGCTCCTTCCCCGCCCTTGCTCTTCCCAGTTTCTCCGTCAGCCTGCGGGTCCCGGCTGGCGGCTGCTTCCGGTAGGAG
AGCGGTGTAGAGCGAGCAGGTCTCAGCTCCTCGTCATGTCATACGGTCCCTTAGACATGTACCGGAACCCGGGGCCCTCGGGGCCCCAGC
TCCGGGACTTCAGCAGCATCATCCAGACGTGCAGCGGCAACATCCAGCGGATCAGCCAAGCCACTGCTCAGATAAAGAATTTGATGAGCC
AGCTAGGAACTAAGCAGGACTCAAGCAAGCTACAGGAAAATCTGTGGTTTTTCCCCATCATCGGCCACATGGGCATCTGCACATCCACAG
GAGTCATTCGGGACTTCGCGGGCCCCTACTTTGTCTCAGAGGACAACATGGCCTTTGGAAAGCCTGCCAAGTACTGGAAGTTGGACCCTG
CTCAGGTCTATGCTAGCGGGCCCAACGCATGGGACACGGCTGTGCACGACGCCTCTGAGGAGTACAAGCACCGCATGCACAATCTCTGCT
GTGACAACTGCCACTCGCACGTGGCATTGGCCCTGAATCTGATGCGCTACAACAACAGCACCAACTGGAATATGGTGACGCTCTGCTTCT
TCTGCCTGCTCTACGGGAAGTACGTCAGCGTTGGGGCCTTCGTGAAGACCTGGCTGCCCTTCATCCTTCTCCTGGGCATCATCCTCACCG
TCAGCCTGGTCTTTAACCTCCGGTGATGGCTGCTCGGTGGCCCCACACCCACCAGGGTCCCGAGGAAACAGCCGCCATCCCTTTTGGTTC
CAGATTTTTTTCTCCTCACCCCAAAAGGCAGGGTTGGGCCTGCTGTTGTGGACCGGGGGTCGGGGCTGGCAGGATGGAAGGACTGAGGAC
CAGCATGAAGTGGGGGTTTGTTGTCTCCCTGCCTCTCAGAAGCACCCTGTCCCCTCCTCCCCAGGCCTGTGACTCCGGCCCTGGAAGCCC
CTTTGTTCTTCTGTTGAAAGGCTTTGGCTTCCCGCTGTAGAGCTGCTCCCGCCACCACCTGCTGGGGTCCTGCCTCAGCCCAGTGCCCAG
TATGGGGAGAGGAGGACATTTGGGCTCACCTGTCAAGGTGGCCCTGGGACCAGAGCTGGTCCCAGCATGGGGTGCACCGGGTACACTTAA
CGTGTCTCTATAAGCCAAGTTGCTTCAGGACCTTCACCACTGGCCTCTAGAATGGTCCAGAGGGGCTGGCTGGGTCCCTTTGTCAGACTC
CTGCCGGCAGCTGCCCTGGGGGACATGTGTGCCCATCTGGCATCCTCCAGCCCGTGCAGTCCGCTCTTCACTGTTCCACGGCCTCCCAGT
GCCTCCCAGCATTGGACCCATCTCCCCCTGCAGTTTGAGGCCAGAGAGGTGAGTGGACCTGACAAGTGCCAGAGTAACCGTGTAGACAGA
GCAGTGTAGACAGCACTCAGCCCCAGCCCCAGGTGTGGACCTCATGCTGGTGATGGCTCCCCTGGGTGGCCTGCCAGCACAGCCAGTGCC
ATCAGGGAGCTGAAGGGGCTGTCCCCCACCTAACTCCAGCTCCCCCTTCACGTTGTCACCAAGGCCCTGTGCCGCCCGCCTCGCCCCCCT


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FusionGenePPI for STX12_TMEM222


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, LMNATMEM222ABHD16A, PRSS23, MOV10, NXF1, GNAI3, TCTN2, CREB3, UPK1A, TMEM206, RTN4, LMNA


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_TMEM222


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_TMEM222


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