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Fusion gene ID: 1871 |
FusionGeneSummary for ANKRD52_HIGD2A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ANKRD52_HIGD2A | Fusion gene ID: 1871 | Hgene | Tgene | Gene symbol | ANKRD52 | HIGD2A | Gene ID | 283373 | 192286 |
| Gene name | ankyrin repeat domain 52 | HIG1 hypoxia inducible domain family member 2A | |
| Synonyms | ANKRD33 | RCF1b | |
| Cytomap | 12q13.3 | 5q35.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit CCVWG5837PP6-ARS-Cankyrin repeat domain 33ankyrin repeat domain-containing protein 52protein phosphatase 6 ankyrin repeat subunit Cserine/threonine-protein phosphatase 6 regula | HIG1 domain family member 2A, mitochondrialHIG1 domain family, member 2ARCF1 homolog B | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q8NB46 | Q9BW72 | |
| Ensembl transtripts involved in fusion gene | ENST00000548241, ENST00000267116, | ENST00000274787, | |
| Fusion gene scores | * DoF score | 9 X 8 X 4=288 | 1 X 1 X 1=1 |
| # samples | 8 | 1 | |
| ** MAII score | log2(8/288*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: ANKRD52 [Title/Abstract] AND HIGD2A [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 | HIGD2A | GO:0043066 | negative regulation of apoptotic process | 21856340 |
| 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 | BC024309 | ANKRD52 | chr12 | 56635415 | - | HIGD2A | chr5 | 175816714 | + |
| * 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-3UTR | ENST00000548241 | ENST00000274787 | ANKRD52 | chr12 | 56635415 | - | HIGD2A | chr5 | 175816714 | + |
| intron-3UTR | ENST00000267116 | ENST00000274787 | ANKRD52 | chr12 | 56635415 | - | HIGD2A | chr5 | 175816714 | + |
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FusionProtFeatures for ANKRD52_HIGD2A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ANKRD52 | HIGD2A |
| Putative regulatory subunit of protein phosphatase 6(PP6) that may be involved in the recognition of phosphoproteinsubstrates. | Proposed subunit of cytochrome c oxidase (COX, complexIV), which is the terminal component of the mitochondrialrespiratory chain that catalyzes the reduction of oxygen to water.May be involved in cytochrome c oxidase activity. May play a rolein the assembly of respiratory supercomplexes.{ECO:0000269|PubMed:22342701}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * 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 |
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FusionGeneSequence for ANKRD52_HIGD2A |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for ANKRD52_HIGD2A |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ANKRD52_HIGD2A |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ANKRD52_HIGD2A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | HIGD2A | C0023903 | Liver neoplasms | 1 | CTD_human |
| Tgene | HIGD2A | C0032927 | Precancerous Conditions | 1 | CTD_human |
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