FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 36683

FusionGeneSummary for STXBP5_FAM126A

check button Fusion gene summary
Fusion gene informationFusion gene name: STXBP5_FAM126A
Fusion gene ID: 36683
HgeneTgene
Gene symbol

STXBP5

FAM126A

Gene ID

134957

84668

Gene namesyntaxin binding protein 5family with sequence similarity 126 member A
SynonymsLGL3|LLGL3|Nbla04300DRCTNNB1A|HCC|HLD5|HYCC1
Cytomap

6q24.3

7p15.3

Type of geneprotein-codingprotein-coding
Descriptionsyntaxin-binding protein 5lethal(2) giant larvae protein homolog 3putative protein product of Nbla04300tomosyntomosyn-1hyccindown regulated by Ctnnb1, adown-regulated by CTNNB1 protein A
Modification date2018052320180519
UniProtAcc

Q5T5C0

Q9BYI3

Ensembl transtripts involved in fusion geneENST00000546097, ENST00000367481, 
ENST00000367480, ENST00000321680, 
ENST00000179882, 
ENST00000432176, 
ENST00000409923, ENST00000498833, 
ENST00000409763, 
Fusion gene scores* DoF score5 X 5 X 3=753 X 3 X 2=18
# samples 64
** MAII scorelog2(6/75*10)=-0.321928094887362
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: STXBP5 [Title/Abstract] AND FAM126A [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
TgeneFAM126A

GO:0046854

phosphatidylinositol phosphorylation

26571211

TgeneFAM126A

GO:0072659

protein localization to plasma membrane

26571211


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
ChiTaRS3.1AA282281STXBP5chr6

147643693

-FAM126Achr7

22985784

-
ChiTaRS3.1AA290947STXBP5chr6

147643693

-FAM126Achr7

22985784

-
* 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
intron-3CDSENST00000546097ENST00000432176STXBP5chr6

147643693

-FAM126Achr7

22985784

-
intron-3UTRENST00000546097ENST00000409923STXBP5chr6

147643693

-FAM126Achr7

22985784

-
intron-5UTRENST00000546097ENST00000498833STXBP5chr6

147643693

-FAM126Achr7

22985784

-
intron-intronENST00000546097ENST00000409763STXBP5chr6

147643693

-FAM126Achr7

22985784

-
intron-3CDSENST00000367481ENST00000432176STXBP5chr6

147643693

-FAM126Achr7

22985784

-
intron-3UTRENST00000367481ENST00000409923STXBP5chr6

147643693

-FAM126Achr7

22985784

-
intron-5UTRENST00000367481ENST00000498833STXBP5chr6

147643693

-FAM126Achr7

22985784

-
intron-intronENST00000367481ENST00000409763STXBP5chr6

147643693

-FAM126Achr7

22985784

-
intron-3CDSENST00000367480ENST00000432176STXBP5chr6

147643693

-FAM126Achr7

22985784

-
intron-3UTRENST00000367480ENST00000409923STXBP5chr6

147643693

-FAM126Achr7

22985784

-
intron-5UTRENST00000367480ENST00000498833STXBP5chr6

147643693

-FAM126Achr7

22985784

-
intron-intronENST00000367480ENST00000409763STXBP5chr6

147643693

-FAM126Achr7

22985784

-
intron-3CDSENST00000321680ENST00000432176STXBP5chr6

147643693

-FAM126Achr7

22985784

-
intron-3UTRENST00000321680ENST00000409923STXBP5chr6

147643693

-FAM126Achr7

22985784

-
intron-5UTRENST00000321680ENST00000498833STXBP5chr6

147643693

-FAM126Achr7

22985784

-
intron-intronENST00000321680ENST00000409763STXBP5chr6

147643693

-FAM126Achr7

22985784

-
intron-3CDSENST00000179882ENST00000432176STXBP5chr6

147643693

-FAM126Achr7

22985784

-
intron-3UTRENST00000179882ENST00000409923STXBP5chr6

147643693

-FAM126Achr7

22985784

-
intron-5UTRENST00000179882ENST00000498833STXBP5chr6

147643693

-FAM126Achr7

22985784

-
intron-intronENST00000179882ENST00000409763STXBP5chr6

147643693

-FAM126Achr7

22985784

-

Top

FusionProtFeatures for STXBP5_FAM126A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
STXBP5

Q5T5C0

FAM126A

Q9BYI3

Plays a regulatory role in calcium-dependent exocytosisand neurotransmitter release. Inhibits membrane fusion betweentransport vesicles and the plasma membrane. May modulate theassembly of trans-SNARE complexes between transport vesicles andthe plasma membrane. Inhibits translocation of GLUT4 fromintracellular vesicles to the plasma membrane. Competes withSTXBP1 for STX1 binding (By similarity). {ECO:0000250}.

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


Top

FusionGeneSequence for STXBP5_FAM126A


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).

Top

FusionGenePPI for STXBP5_FAM126A


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


Top

RelatedDrugs for STXBP5_FAM126A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for STXBP5_FAM126A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneFAM126AC1864663HYPOMYELINATION AND CONGENITAL CATARACT2CTD_human;ORPHANET;UNIPROT
TgeneFAM126AC0236969Substance-Related Disorders1CTD_human
TgeneFAM126AC3714756Intellectual Disability1CTD_human