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Fusion gene ID: 40008 |
FusionGeneSummary for TTC7B_RUNX1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TTC7B_RUNX1 | Fusion gene ID: 40008 | Hgene | Tgene | Gene symbol | TTC7B | RUNX1 | Gene ID | 145567 | 861 |
| Gene name | tetratricopeptide repeat domain 7B | runt related transcription factor 1 | |
| Synonyms | TTC7L1|c14_5685 | AML1|AML1-EVI-1|AMLCR1|CBF2alpha|CBFA2|EVI-1|PEBP2aB|PEBP2alpha | |
| Cytomap | 14q32.11 | 21q22.12 | |
| Type of gene | protein-coding | protein-coding | |
| Description | tetratricopeptide repeat protein 7BTPR repeat protein 7-like-1TPR repeat protein 7Btetratricopeptide repeat domain 7 like 1tetratricopeptide repeat protein 7-like-1 | runt-related transcription factor 1AML1-EVI-1 fusion proteinPEA2-alpha BPEBP2-alpha BSL3-3 enhancer factor 1 alpha B subunitSL3/AKV core-binding factor alpha B subunitacute myeloid leukemia 1 proteincore-binding factor, runt domain, alpha subunit 2 | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q86TV6 | Q01196 | |
| Ensembl transtripts involved in fusion gene | ENST00000357056, ENST00000328459, ENST00000554654, | ENST00000344691, ENST00000325074, ENST00000437180, ENST00000300305, ENST00000399240, ENST00000486278, ENST00000494829, ENST00000358356, | |
| Fusion gene scores | * DoF score | 9 X 9 X 7=567 | 17 X 29 X 7=3451 |
| # samples | 10 | 33 | |
| ** MAII score | log2(10/567*10)=-2.5033487351675 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(33/3451*10)=-3.3864765441897 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TTC7B [Title/Abstract] AND RUNX1 [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 |
| Hgene | TTC7B | GO:0046854 | phosphatidylinositol phosphorylation | 23229899|26571211 |
| Hgene | TTC7B | GO:0072659 | protein localization to plasma membrane | 23229899|26571211 |
| Tgene | RUNX1 | GO:0030097 | hemopoiesis | 21873977 |
| Tgene | RUNX1 | GO:0045893 | positive regulation of transcription, DNA-templated | 10207087|14970218 |
| Tgene | RUNX1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 9199349|10207087|14970218|21873977 |
| 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 |
| TCGA | RV | LUSC | TCGA-77-8154-01A | TTC7B | chr14 | 91110392 | - | RUNX1 | chr21 | 36265260 | - |
| * 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 |
| 5CDS-intron | ENST00000357056 | ENST00000344691 | TTC7B | chr14 | 91110392 | - | RUNX1 | chr21 | 36265260 | - |
| 5CDS-intron | ENST00000357056 | ENST00000325074 | TTC7B | chr14 | 91110392 | - | RUNX1 | chr21 | 36265260 | - |
| 5CDS-intron | ENST00000357056 | ENST00000437180 | TTC7B | chr14 | 91110392 | - | RUNX1 | chr21 | 36265260 | - |
| 5CDS-intron | ENST00000357056 | ENST00000300305 | TTC7B | chr14 | 91110392 | - | RUNX1 | chr21 | 36265260 | - |
| 5CDS-intron | ENST00000357056 | ENST00000399240 | TTC7B | chr14 | 91110392 | - | RUNX1 | chr21 | 36265260 | - |
| 5CDS-5UTR | ENST00000357056 | ENST00000486278 | TTC7B | chr14 | 91110392 | - | RUNX1 | chr21 | 36265260 | - |
| 5CDS-intron | ENST00000357056 | ENST00000494829 | TTC7B | chr14 | 91110392 | - | RUNX1 | chr21 | 36265260 | - |
| 5CDS-intron | ENST00000357056 | ENST00000358356 | TTC7B | chr14 | 91110392 | - | RUNX1 | chr21 | 36265260 | - |
| 5CDS-intron | ENST00000328459 | ENST00000344691 | TTC7B | chr14 | 91110392 | - | RUNX1 | chr21 | 36265260 | - |
| 5CDS-intron | ENST00000328459 | ENST00000325074 | TTC7B | chr14 | 91110392 | - | RUNX1 | chr21 | 36265260 | - |
| 5CDS-intron | ENST00000328459 | ENST00000437180 | TTC7B | chr14 | 91110392 | - | RUNX1 | chr21 | 36265260 | - |
| 5CDS-intron | ENST00000328459 | ENST00000300305 | TTC7B | chr14 | 91110392 | - | RUNX1 | chr21 | 36265260 | - |
| 5CDS-intron | ENST00000328459 | ENST00000399240 | TTC7B | chr14 | 91110392 | - | RUNX1 | chr21 | 36265260 | - |
| 5CDS-5UTR | ENST00000328459 | ENST00000486278 | TTC7B | chr14 | 91110392 | - | RUNX1 | chr21 | 36265260 | - |
| 5CDS-intron | ENST00000328459 | ENST00000494829 | TTC7B | chr14 | 91110392 | - | RUNX1 | chr21 | 36265260 | - |
| 5CDS-intron | ENST00000328459 | ENST00000358356 | TTC7B | chr14 | 91110392 | - | RUNX1 | chr21 | 36265260 | - |
| 5UTR-intron | ENST00000554654 | ENST00000344691 | TTC7B | chr14 | 91110392 | - | RUNX1 | chr21 | 36265260 | - |
| 5UTR-intron | ENST00000554654 | ENST00000325074 | TTC7B | chr14 | 91110392 | - | RUNX1 | chr21 | 36265260 | - |
| 5UTR-intron | ENST00000554654 | ENST00000437180 | TTC7B | chr14 | 91110392 | - | RUNX1 | chr21 | 36265260 | - |
| 5UTR-intron | ENST00000554654 | ENST00000300305 | TTC7B | chr14 | 91110392 | - | RUNX1 | chr21 | 36265260 | - |
| 5UTR-intron | ENST00000554654 | ENST00000399240 | TTC7B | chr14 | 91110392 | - | RUNX1 | chr21 | 36265260 | - |
| 5UTR-5UTR | ENST00000554654 | ENST00000486278 | TTC7B | chr14 | 91110392 | - | RUNX1 | chr21 | 36265260 | - |
| 5UTR-intron | ENST00000554654 | ENST00000494829 | TTC7B | chr14 | 91110392 | - | RUNX1 | chr21 | 36265260 | - |
| 5UTR-intron | ENST00000554654 | ENST00000358356 | TTC7B | chr14 | 91110392 | - | RUNX1 | chr21 | 36265260 | - |
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FusionProtFeatures for TTC7B_RUNX1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TTC7B | RUNX1 |