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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: 26963

FusionGeneSummary for PHF6_STX12

check button Fusion gene summary
Fusion gene informationFusion gene name: PHF6_STX12
Fusion gene ID: 26963
HgeneTgene
Gene symbol

PHF6

STX12

Gene ID

84295

23673

Gene namePHD finger protein 6syntaxin 12
SynonymsBFLS|BORJ|CENP-31STX13|STX14
Cytomap

Xq26.2

1p35.3

Type of geneprotein-codingprotein-coding
DescriptionPHD finger protein 6PHD-like zinc finger proteincentromere protein 31syntaxin-12
Modification date2018051920180523
UniProtAcc

Q8IWS0

Q86Y82

Ensembl transtripts involved in fusion geneENST00000370803, ENST00000332070, 
ENST00000394292, ENST00000370799, 
ENST00000416404, ENST00000370800, 
ENST00000373943, ENST00000468761, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 3 X 1=9
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PHF6 [Title/Abstract] AND STX12 [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
HgenePHF6

GO:0000122

negative regulation of transcription by RNA polymerase II

24554700

TgeneSTX12

GO:0033344

cholesterol efflux

15469992

TgeneSTX12

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
ChiTaRS3.1AK025497PHF6chrX

133562282

+STX12chr1

28149488

+
* 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
3UTR-3UTRENST00000370803ENST00000373943PHF6chrX

133562282

+STX12chr1

28149488

+
3UTR-intronENST00000370803ENST00000468761PHF6chrX

133562282

+STX12chr1

28149488

+
3UTR-3UTRENST00000332070ENST00000373943PHF6chrX

133562282

+STX12chr1

28149488

+
3UTR-intronENST00000332070ENST00000468761PHF6chrX

133562282

+STX12chr1

28149488

+
3UTR-3UTRENST00000394292ENST00000373943PHF6chrX

133562282

+STX12chr1

28149488

+
3UTR-intronENST00000394292ENST00000468761PHF6chrX

133562282

+STX12chr1

28149488

+
intron-3UTRENST00000370799ENST00000373943PHF6chrX

133562282

+STX12chr1

28149488

+
intron-intronENST00000370799ENST00000468761PHF6chrX

133562282

+STX12chr1

28149488

+
intron-3UTRENST00000416404ENST00000373943PHF6chrX

133562282

+STX12chr1

28149488

+
intron-intronENST00000416404ENST00000468761PHF6chrX

133562282

+STX12chr1

28149488

+
intron-3UTRENST00000370800ENST00000373943PHF6chrX

133562282

+STX12chr1

28149488

+
intron-intronENST00000370800ENST00000468761PHF6chrX

133562282

+STX12chr1

28149488

+

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FusionProtFeatures for PHF6_STX12


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PHF6

Q8IWS0

STX12

Q86Y82

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 PHF6_STX12


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 PHF6_STX12


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


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 PHF6_STX12


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 PHF6_STX12


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePHF6C0265339Borjeson-Forssman-Lehmann syndrome3CTD_human;ORPHANET;UNIPROT
HgenePHF6C1961099Precursor T-Cell Lymphoblastic Leukemia-Lymphoma1CTD_human