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Fusion gene ID: 36683 |
FusionGeneSummary for STXBP5_FAM126A |
 Fusion gene summary |
| 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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| 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 |
| 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 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 |
| 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. |
| 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 | - |
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FusionProtFeatures for STXBP5_FAM126A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| STXBP5 | FAM126A |