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Fusion gene ID: 30291 |
FusionGeneSummary for RALGPS1_TYRP1 |
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Fusion gene information | Fusion gene name: RALGPS1_TYRP1 | Fusion gene ID: 30291 | Hgene | Tgene | Gene symbol | RALGPS1 | TYRP1 | Gene ID | 9649 | 7306 |
Gene name | Ral GEF with PH domain and SH3 binding motif 1 | tyrosinase related protein 1 | |
Synonyms | RALGEF2|RALGPS1A | CAS2|CATB|GP75|OCA3|TRP|TRP1|TYRP|b-PROTEIN | |
Cytomap | 9q33.3 | 9p23 | |
Type of gene | protein-coding | protein-coding | |
Description | ras-specific guanine nucleotide-releasing factor RalGPS1Ral guanine nucleotide exchange factor RalGPS1ARalGEF 2ral GEF with PH domain and SH3-binding motif 1ral guanine nucleotide exchange factor 2ralA exchange factor RalGPS1 | 5,6-dihydroxyindole-2-carboxylic acid oxidaseDHICA oxidasecatalase Bglycoprotein 75melanoma antigen gp75 | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q5JS13 | P17643 | |
Ensembl transtripts involved in fusion gene | ENST00000424082, ENST00000259351, ENST00000394022, ENST00000373436, ENST00000373434, ENST00000394011, ENST00000480993, | ENST00000381137, ENST00000388918, ENST00000381136, ENST00000473504, | |
Fusion gene scores | * DoF score | 6 X 5 X 5=150 | 5 X 1 X 3=15 |
# samples | 7 | 5 | |
** MAII score | log2(7/150*10)=-1.09953567355091 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/15*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: RALGPS1 [Title/Abstract] AND TYRP1 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | RALGPS1 | GO:0032485 | regulation of Ral protein signal transduction | 10747847 |
![]() (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 | BRCA | TCGA-A2-A0D0-01A | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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-5UTR | ENST00000424082 | ENST00000381137 | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
5CDS-5UTR | ENST00000424082 | ENST00000388918 | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
5CDS-intron | ENST00000424082 | ENST00000381136 | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
5CDS-intron | ENST00000424082 | ENST00000473504 | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
5CDS-5UTR | ENST00000259351 | ENST00000381137 | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
5CDS-5UTR | ENST00000259351 | ENST00000388918 | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
5CDS-intron | ENST00000259351 | ENST00000381136 | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
5CDS-intron | ENST00000259351 | ENST00000473504 | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
5CDS-5UTR | ENST00000394022 | ENST00000381137 | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
5CDS-5UTR | ENST00000394022 | ENST00000388918 | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
5CDS-intron | ENST00000394022 | ENST00000381136 | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
5CDS-intron | ENST00000394022 | ENST00000473504 | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
5CDS-5UTR | ENST00000373436 | ENST00000381137 | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
5CDS-5UTR | ENST00000373436 | ENST00000388918 | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
5CDS-intron | ENST00000373436 | ENST00000381136 | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
5CDS-intron | ENST00000373436 | ENST00000473504 | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
5CDS-5UTR | ENST00000373434 | ENST00000381137 | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
5CDS-5UTR | ENST00000373434 | ENST00000388918 | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
5CDS-intron | ENST00000373434 | ENST00000381136 | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
5CDS-intron | ENST00000373434 | ENST00000473504 | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
5CDS-5UTR | ENST00000394011 | ENST00000381137 | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
5CDS-5UTR | ENST00000394011 | ENST00000388918 | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
5CDS-intron | ENST00000394011 | ENST00000381136 | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
5CDS-intron | ENST00000394011 | ENST00000473504 | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
3UTR-5UTR | ENST00000480993 | ENST00000381137 | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
3UTR-5UTR | ENST00000480993 | ENST00000388918 | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
3UTR-intron | ENST00000480993 | ENST00000381136 | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
3UTR-intron | ENST00000480993 | ENST00000473504 | RALGPS1 | chr9 | 129728230 | + | TYRP1 | chr9 | 12693912 | + |
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FusionProtFeatures for RALGPS1_TYRP1 |
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Hgene | Tgene |
RALGPS1 | TYRP1 |
Catalyzes the oxidation of 5,6-dihydroxyindole-2-carboxylic acid (DHICA) into indole-5,6-quinone-2-carboxylic acidin the presence of bound Cu(2+) ions (PubMed:28661582). Mayregulate or influence the type of melanin synthesized(PubMed:22556244, PubMed:16704458). Also to a lower extent,capable of hydroxylating tyrosine and producing melanin (Bysimilarity). {ECO:0000250|UniProtKB:P07147,ECO:0000269|PubMed:28661582, ECO:0000305|PubMed:16704458,ECO:0000305|PubMed:22556244, ECO:0000305|PubMed:23504663}. |
![]() * 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 RALGPS1_TYRP1 |
![]() (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 RALGPS1_TYRP1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
RALGPS1 | RALA, GRB2, NCK1, APP, C2orf88 | TYRP1 | GIPC1, RAB11A, TF, RAB5A, HSPA4, RC3H1, ZNF431 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for RALGPS1_TYRP1 |
![]() (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 RALGPS1_TYRP1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | RALGPS1 | C0005695 | Bladder Neoplasm | 1 | CTD_human |
Tgene | TYRP1 | C0342683 | ALBINISM, OCULOCUTANEOUS, TYPE III | 2 | ORPHANET;UNIPROT |
Tgene | TYRP1 | C0001418 | Adenocarcinoma | 1 | CTD_human |
Tgene | TYRP1 | C0024121 | Lung Neoplasms | 1 | CTD_human |
Tgene | TYRP1 | C0025202 | melanoma | 1 | CTD_human |