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Fusion gene ID: 29987 |
FusionGeneSummary for RAB38_CA10 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RAB38_CA10 | Fusion gene ID: 29987 | Hgene | Tgene | Gene symbol | RAB38 | CA10 | Gene ID | 23682 | 56934 |
| Gene name | RAB38, member RAS oncogene family | carbonic anhydrase 10 | |
| Synonyms | NY-MEL-1|rrGTPbp | CA-RPX|CARPX|HUCEP-15 | |
| Cytomap | 11q14.2 | 17q21.33-q22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ras-related protein Rab-38Rab-related GTP-binding proteinmelanoma antigen NY-MEL-1 | carbonic anhydrase-related protein 10CA-RP XCARP Xcarbonic anhydrase Xcarbonic anhydrase-related protein Xcerebral protein-15 | |
| Modification date | 20180523 | 20180522 | |
| UniProtAcc | P57729 | Q9NS85 | |
| Ensembl transtripts involved in fusion gene | ENST00000243662, | ENST00000570565, ENST00000442502, ENST00000340813, ENST00000451037, ENST00000285273, ENST00000571918, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 18 X 7 X 8=1008 |
| # samples | 1 | 18 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(18/1008*10)=-2.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RAB38 [Title/Abstract] AND CA10 [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 |
| Hgene | RAB38 | GO:1903232 | melanosome assembly | 23084991 |
| 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 | BRCA | TCGA-C8-A12Q-01A | RAB38 | chr11 | 87908351 | - | CA10 | chr17 | 50149753 | - |
| * 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 |
| 5CDS-5UTR | ENST00000243662 | ENST00000570565 | RAB38 | chr11 | 87908351 | - | CA10 | chr17 | 50149753 | - |
| 5CDS-5UTR | ENST00000243662 | ENST00000442502 | RAB38 | chr11 | 87908351 | - | CA10 | chr17 | 50149753 | - |
| 5CDS-5UTR | ENST00000243662 | ENST00000340813 | RAB38 | chr11 | 87908351 | - | CA10 | chr17 | 50149753 | - |
| 5CDS-5UTR | ENST00000243662 | ENST00000451037 | RAB38 | chr11 | 87908351 | - | CA10 | chr17 | 50149753 | - |
| 5CDS-5UTR | ENST00000243662 | ENST00000285273 | RAB38 | chr11 | 87908351 | - | CA10 | chr17 | 50149753 | - |
| 5CDS-intron | ENST00000243662 | ENST00000571918 | RAB38 | chr11 | 87908351 | - | CA10 | chr17 | 50149753 | - |
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FusionProtFeatures for RAB38_CA10 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RAB38 | CA10 |
| May be involved in melanosomal transport and docking.Involved in the proper sorting of TYRP1. Involved in peripheralmelanosomal distribution of TYRP1 in melanocytes; the function,which probably is implicating vesicle-trafficking, includescooperation with ANKRD27 and VAMP7 (By similarity). Plays a rolein the maturation of phagosomes that engulf pathogens, such asS.aureus and M.tuberculosis (PubMed:21255211). Plays an importantrole in the control of melanin production and melanosomebiogenesis (PubMed:23084991). In concert with RAB32, regulates theproper trafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2to melanosomes in melanocytes (By similarity).{ECO:0000250|UniProtKB:Q8QZZ8, ECO:0000269|PubMed:21255211,ECO:0000269|PubMed:23084991}. | Does not have a catalytic activity. |
| 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 RAB38_CA10 |
| 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 RAB38_CA10 |
| 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 |
| RAB38 | APP, RAB32 | CA10 | PARL, MTHFD1, WDHD1, TSC22D1, IMPACT, ASS1, CALCOCO1, TOR1AIP1, PHYHIP, COL6A2, ABT1, INO80, ACTR10, MTERF4, G6PD, LYRM7, NRBP1, NSUN4, PSMG1, KCTD15, PIAS4, PSMG2, PSMG3, PSMG4, DCTN3, PPRC1 |
| - 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 RAB38_CA10 |
| 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 |
| Tgene | CA10 | Q9NS85 | DB00909 | Zonisamide | Carbonic anhydrase-related protein 10 | small molecule | approved|investigational |
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RelatedDiseases for RAB38_CA10 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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