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Fusion gene ID: 33712 |
FusionGeneSummary for SHANK2_ELP4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SHANK2_ELP4 | Fusion gene ID: 33712 | Hgene | Tgene | Gene symbol | SHANK2 | ELP4 | Gene ID | 22941 | 26610 |
| Gene name | SH3 and multiple ankyrin repeat domains 2 | elongator acetyltransferase complex subunit 4 | |
| Synonyms | AUTS17|CORTBP1|CTTNBP1|ProSAP1|SHANK|SPANK-3 | AN|AN2|C11orf19|PAX6NEB|PAXNEB|dJ68P15A.1|hELP4 | |
| Cytomap | 11q13.3-q13.4 | 11p13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | SH3 and multiple ankyrin repeat domains protein 2GKAP/SAPAP interacting proteincortactin SH3 domain-binding proteincortactin-binding protein 1proline-rich synapse associated protein 1 | elongator complex protein 4PAX6 neighbor gene proteinelongation protein 4 homolog | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9UPX8 | Q96EB1 | |
| Ensembl transtripts involved in fusion gene | ENST00000449833, ENST00000409161, ENST00000423696, ENST00000338508, ENST00000409530, ENST00000449116, ENST00000357171, ENST00000468619, | ENST00000350638, ENST00000379163, ENST00000395934, | |
| Fusion gene scores | * DoF score | 30 X 12 X 9=3240 | 5 X 4 X 5=100 |
| # samples | 28 | 5 | |
| ** MAII score | log2(28/3240*10)=-3.53249508082702 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SHANK2 [Title/Abstract] AND ELP4 [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 | ELP4 | GO:0006357 | regulation of transcription by RNA polymerase II | 11818576 |
| Tgene | ELP4 | GO:0043966 | histone H3 acetylation | 11714725 |
| Tgene | ELP4 | GO:0043967 | histone H4 acetylation | 11714725 |
| 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 | BRCA | TCGA-E2-A106-01A | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| * 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 |
| In-frame | ENST00000449833 | ENST00000350638 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| Frame-shift | ENST00000449833 | ENST00000379163 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| Frame-shift | ENST00000449833 | ENST00000395934 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| In-frame | ENST00000409161 | ENST00000350638 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| Frame-shift | ENST00000409161 | ENST00000379163 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| Frame-shift | ENST00000409161 | ENST00000395934 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| In-frame | ENST00000423696 | ENST00000350638 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| Frame-shift | ENST00000423696 | ENST00000379163 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| Frame-shift | ENST00000423696 | ENST00000395934 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| In-frame | ENST00000338508 | ENST00000350638 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| Frame-shift | ENST00000338508 | ENST00000379163 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| Frame-shift | ENST00000338508 | ENST00000395934 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| In-frame | ENST00000409530 | ENST00000350638 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| Frame-shift | ENST00000409530 | ENST00000379163 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| Frame-shift | ENST00000409530 | ENST00000395934 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| In-frame | ENST00000449116 | ENST00000350638 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| Frame-shift | ENST00000449116 | ENST00000379163 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| Frame-shift | ENST00000449116 | ENST00000395934 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| In-frame | ENST00000357171 | ENST00000350638 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| Frame-shift | ENST00000357171 | ENST00000379163 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| Frame-shift | ENST00000357171 | ENST00000395934 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| intron-3CDS | ENST00000468619 | ENST00000350638 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| intron-3CDS | ENST00000468619 | ENST00000379163 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| intron-3CDS | ENST00000468619 | ENST00000395934 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
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FusionProtFeatures for SHANK2_ELP4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SHANK2 | ELP4 |