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Fusion gene ID: 1856 |
FusionGeneSummary for ANKRD42_PICALM |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ANKRD42_PICALM | Fusion gene ID: 1856 | Hgene | Tgene | Gene symbol | ANKRD42 | PICALM | Gene ID | 338699 | 8301 |
| Gene name | ankyrin repeat domain 42 | phosphatidylinositol binding clathrin assembly protein | |
| Synonyms | PPP1R79|SARP | CALM|CLTH|LAP | |
| Cytomap | 11q14.1 | 11q14.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ankyrin repeat domain-containing protein 42protein phosphatase 1, regulatory subunit 79several ankyrin repeat protein | phosphatidylinositol-binding clathrin assembly proteinclathrin assembly lymphoid myeloid leukemia protein | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q8N9B4 | Q13492 | |
| Ensembl transtripts involved in fusion gene | ENST00000528190, ENST00000393389, ENST00000528722, ENST00000260047, ENST00000526731, ENST00000531895, ENST00000393392, ENST00000533342, | ENST00000532317, ENST00000526033, ENST00000393346, ENST00000528398, ENST00000356360, ENST00000528411, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 7 X 12 X 4=336 |
| # samples | 2 | 14 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(14/336*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ANKRD42 [Title/Abstract] AND PICALM [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 | PICALM | GO:0006898 | receptor-mediated endocytosis | 10436022 |
| Tgene | PICALM | GO:0032880 | regulation of protein localization | 10436022 |
| Tgene | PICALM | GO:0045893 | positive regulation of transcription, DNA-templated | 11425879 |
| Tgene | PICALM | GO:0048261 | negative regulation of receptor-mediated endocytosis | 10436022 |
| 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 | LD | HNSC | TCGA-CV-7422-01A | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| * 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 | ENST00000528190 | ENST00000532317 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| intron-3CDS | ENST00000528190 | ENST00000526033 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| intron-3CDS | ENST00000528190 | ENST00000393346 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| intron-3CDS | ENST00000528190 | ENST00000528398 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| intron-3CDS | ENST00000528190 | ENST00000356360 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| intron-intron | ENST00000528190 | ENST00000528411 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| In-frame | ENST00000393389 | ENST00000532317 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| Frame-shift | ENST00000393389 | ENST00000526033 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| Frame-shift | ENST00000393389 | ENST00000393346 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| Frame-shift | ENST00000393389 | ENST00000528398 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| In-frame | ENST00000393389 | ENST00000356360 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| 5CDS-intron | ENST00000393389 | ENST00000528411 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| 5UTR-3CDS | ENST00000528722 | ENST00000532317 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| 5UTR-3CDS | ENST00000528722 | ENST00000526033 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| 5UTR-3CDS | ENST00000528722 | ENST00000393346 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| 5UTR-3CDS | ENST00000528722 | ENST00000528398 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| 5UTR-3CDS | ENST00000528722 | ENST00000356360 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| 5UTR-intron | ENST00000528722 | ENST00000528411 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| In-frame | ENST00000260047 | ENST00000532317 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| Frame-shift | ENST00000260047 | ENST00000526033 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| Frame-shift | ENST00000260047 | ENST00000393346 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| Frame-shift | ENST00000260047 | ENST00000528398 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| In-frame | ENST00000260047 | ENST00000356360 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| 5CDS-intron | ENST00000260047 | ENST00000528411 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| In-frame | ENST00000526731 | ENST00000532317 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| Frame-shift | ENST00000526731 | ENST00000526033 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| Frame-shift | ENST00000526731 | ENST00000393346 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| Frame-shift | ENST00000526731 | ENST00000528398 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| In-frame | ENST00000526731 | ENST00000356360 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| 5CDS-intron | ENST00000526731 | ENST00000528411 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| In-frame | ENST00000531895 | ENST00000532317 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| Frame-shift | ENST00000531895 | ENST00000526033 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| Frame-shift | ENST00000531895 | ENST00000393346 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| Frame-shift | ENST00000531895 | ENST00000528398 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| In-frame | ENST00000531895 | ENST00000356360 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| 5CDS-intron | ENST00000531895 | ENST00000528411 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| intron-3CDS | ENST00000393392 | ENST00000532317 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| intron-3CDS | ENST00000393392 | ENST00000526033 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| intron-3CDS | ENST00000393392 | ENST00000393346 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| intron-3CDS | ENST00000393392 | ENST00000528398 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| intron-3CDS | ENST00000393392 | ENST00000356360 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| intron-intron | ENST00000393392 | ENST00000528411 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| In-frame | ENST00000533342 | ENST00000532317 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| Frame-shift | ENST00000533342 | ENST00000526033 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| Frame-shift | ENST00000533342 | ENST00000393346 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| Frame-shift | ENST00000533342 | ENST00000528398 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| In-frame | ENST00000533342 | ENST00000356360 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
| 5CDS-intron | ENST00000533342 | ENST00000528411 | ANKRD42 | chr11 | 82909684 | + | PICALM | chr11 | 85670103 | - |
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FusionProtFeatures for ANKRD42_PICALM |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ANKRD42 | PICALM |