![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 36683 |
FusionGeneSummary for STXBP5_FAM126A |
![]() |
Fusion gene information | Fusion gene name: STXBP5_FAM126A | Fusion gene ID: 36683 | Hgene | Tgene | Gene symbol | STXBP5 | FAM126A | Gene ID | 134957 | 84668 |
Gene name | syntaxin binding protein 5 | family with sequence similarity 126 member A | |
Synonyms | LGL3|LLGL3|Nbla04300 | DRCTNNB1A|HCC|HLD5|HYCC1 | |
Cytomap | 6q24.3 | 7p15.3 | |
Type of gene | protein-coding | protein-coding | |
Description | syntaxin-binding protein 5lethal(2) giant larvae protein homolog 3putative protein product of Nbla04300tomosyntomosyn-1 | hyccindown regulated by Ctnnb1, adown-regulated by CTNNB1 protein A | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q5T5C0 | Q9BYI3 | |
Ensembl transtripts involved in fusion gene | ENST00000546097, ENST00000367481, ENST00000367480, ENST00000321680, ENST00000179882, | ENST00000432176, ENST00000409923, ENST00000498833, ENST00000409763, | |
Fusion gene scores | * DoF score | 5 X 5 X 3=75 | 3 X 3 X 2=18 |
# samples | 6 | 4 | |
** MAII score | log2(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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | FAM126A | GO:0046854 | phosphatidylinositol phosphorylation | 26571211 |
Tgene | FAM126A | GO:0072659 | protein localization to plasma membrane | 26571211 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | AA282281 | STXBP5 | chr6 | 147643693 | - | FAM126A | chr7 | 22985784 | - | ||
ChiTaRS3.1 | AA290947 | STXBP5 | chr6 | 147643693 | - | FAM126A | chr7 | 22985784 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-3CDS | ENST00000546097 | ENST00000432176 | STXBP5 | chr6 | 147643693 | - | FAM126A | chr7 | 22985784 | - |
intron-3UTR | ENST00000546097 | ENST00000409923 | STXBP5 | chr6 | 147643693 | - | FAM126A | chr7 | 22985784 | - |
intron-5UTR | ENST00000546097 | ENST00000498833 | STXBP5 | chr6 | 147643693 | - | FAM126A | chr7 | 22985784 | - |
intron-intron | ENST00000546097 | ENST00000409763 | STXBP5 | chr6 | 147643693 | - | FAM126A | chr7 | 22985784 | - |
intron-3CDS | ENST00000367481 | ENST00000432176 | STXBP5 | chr6 | 147643693 | - | FAM126A | chr7 | 22985784 | - |
intron-3UTR | ENST00000367481 | ENST00000409923 | STXBP5 | chr6 | 147643693 | - | FAM126A | chr7 | 22985784 | - |
intron-5UTR | ENST00000367481 | ENST00000498833 | STXBP5 | chr6 | 147643693 | - | FAM126A | chr7 | 22985784 | - |
intron-intron | ENST00000367481 | ENST00000409763 | STXBP5 | chr6 | 147643693 | - | FAM126A | chr7 | 22985784 | - |
intron-3CDS | ENST00000367480 | ENST00000432176 | STXBP5 | chr6 | 147643693 | - | FAM126A | chr7 | 22985784 | - |
intron-3UTR | ENST00000367480 | ENST00000409923 | STXBP5 | chr6 | 147643693 | - | FAM126A | chr7 | 22985784 | - |
intron-5UTR | ENST00000367480 | ENST00000498833 | STXBP5 | chr6 | 147643693 | - | FAM126A | chr7 | 22985784 | - |
intron-intron | ENST00000367480 | ENST00000409763 | STXBP5 | chr6 | 147643693 | - | FAM126A | chr7 | 22985784 | - |
intron-3CDS | ENST00000321680 | ENST00000432176 | STXBP5 | chr6 | 147643693 | - | FAM126A | chr7 | 22985784 | - |
intron-3UTR | ENST00000321680 | ENST00000409923 | STXBP5 | chr6 | 147643693 | - | FAM126A | chr7 | 22985784 | - |
intron-5UTR | ENST00000321680 | ENST00000498833 | STXBP5 | chr6 | 147643693 | - | FAM126A | chr7 | 22985784 | - |
intron-intron | ENST00000321680 | ENST00000409763 | STXBP5 | chr6 | 147643693 | - | FAM126A | chr7 | 22985784 | - |
intron-3CDS | ENST00000179882 | ENST00000432176 | STXBP5 | chr6 | 147643693 | - | FAM126A | chr7 | 22985784 | - |
intron-3UTR | ENST00000179882 | ENST00000409923 | STXBP5 | chr6 | 147643693 | - | FAM126A | chr7 | 22985784 | - |
intron-5UTR | ENST00000179882 | ENST00000498833 | STXBP5 | chr6 | 147643693 | - | FAM126A | chr7 | 22985784 | - |
intron-intron | ENST00000179882 | ENST00000409763 | STXBP5 | chr6 | 147643693 | - | FAM126A | chr7 | 22985784 | - |
Top |
FusionProtFeatures for STXBP5_FAM126A |
![]() |
Hgene | Tgene |
STXBP5 | FAM126A |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Top |
FusionGeneSequence for STXBP5_FAM126A |
![]() (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 |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for STXBP5_FAM126A |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for STXBP5_FAM126A |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | FAM126A | C1864663 | HYPOMYELINATION AND CONGENITAL CATARACT | 2 | CTD_human;ORPHANET;UNIPROT |
Tgene | FAM126A | C0236969 | Substance-Related Disorders | 1 | CTD_human |
Tgene | FAM126A | C3714756 | Intellectual Disability | 1 | CTD_human |