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Fusion gene ID: 30270 |
FusionGeneSummary for RALGAPA2_C20orf194 |
Fusion gene summary |
Fusion gene information | Fusion gene name: RALGAPA2_C20orf194 | Fusion gene ID: 30270 | Hgene | Tgene | Gene symbol | RALGAPA2 | C20orf194 | Gene ID | 57186 | 25943 |
Gene name | Ral GTPase activating protein catalytic alpha subunit 2 | chromosome 20 open reading frame 194 | |
Synonyms | AS250|C20orf74|bA287B20.1|dJ1049G11|dJ1049G11.4|p220 | - | |
Cytomap | 20p11.23 | 20p13 | |
Type of gene | protein-coding | protein-coding | |
Description | ral GTPase-activating protein subunit alpha-2250 kDa substrate of AktRal GTPase activating protein, alpha subunit 2 (catalytic)RapGAPalpha2akt substrate AS250ral GTPase-activating protein alpha subunit 2 | uncharacterized protein C20orf194 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q2PPJ7 | Q5TEA3 | |
Ensembl transtripts involved in fusion gene | ENST00000202677, ENST00000495793, | ENST00000252032, ENST00000453730, ENST00000498079, | |
Fusion gene scores | * DoF score | 7 X 5 X 6=210 | 4 X 4 X 4=64 |
# samples | 8 | 4 | |
** MAII score | log2(8/210*10)=-1.39231742277876 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: RALGAPA2 [Title/Abstract] AND C20orf194 [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 |
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 | BLCA | TCGA-XF-A8HG-01A | RALGAPA2 | chr20 | 20634174 | - | C20orf194 | chr20 | 3251208 | - |
* 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 |
Frame-shift | ENST00000202677 | ENST00000252032 | RALGAPA2 | chr20 | 20634174 | - | C20orf194 | chr20 | 3251208 | - |
5CDS-3UTR | ENST00000202677 | ENST00000453730 | RALGAPA2 | chr20 | 20634174 | - | C20orf194 | chr20 | 3251208 | - |
5CDS-intron | ENST00000202677 | ENST00000498079 | RALGAPA2 | chr20 | 20634174 | - | C20orf194 | chr20 | 3251208 | - |
intron-3CDS | ENST00000495793 | ENST00000252032 | RALGAPA2 | chr20 | 20634174 | - | C20orf194 | chr20 | 3251208 | - |
intron-3UTR | ENST00000495793 | ENST00000453730 | RALGAPA2 | chr20 | 20634174 | - | C20orf194 | chr20 | 3251208 | - |
intron-intron | ENST00000495793 | ENST00000498079 | RALGAPA2 | chr20 | 20634174 | - | C20orf194 | chr20 | 3251208 | - |
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FusionProtFeatures for RALGAPA2_C20orf194 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
RALGAPA2 | C20orf194 |
May act as an effector for ARL3. |
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 RALGAPA2_C20orf194 |
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 RALGAPA2_C20orf194 |
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 |
RALGAPA2 | GFOD1, SPRTN, NKIRAS2, DPH7, MTMR7 | C20orf194 | HSP90AA1, NXF1 |
- 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 RALGAPA2_C20orf194 |
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 RALGAPA2_C20orf194 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |