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Fusion gene ID: 29967 |
FusionGeneSummary for RAB30_CPT1A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RAB30_CPT1A | Fusion gene ID: 29967 | Hgene | Tgene | Gene symbol | RAB30 | CPT1A | Gene ID | 27314 | 1374 |
| Gene name | RAB30, member RAS oncogene family | carnitine palmitoyltransferase 1A | |
| Synonyms | - | CPT1|CPT1-L|L-CPT1 | |
| Cytomap | 11q14.1 | 11q13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ras-related protein Rab-30 | carnitine O-palmitoyltransferase 1, liver isoformCPT ICPTI-Lcarnitine O-palmitoyltransferase I, liver isoformcarnitine palmitoyltransferase 1A (liver)carnitine palmitoyltransferase I, liver | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q15771 | P50416 | |
| Ensembl transtripts involved in fusion gene | ENST00000533486, ENST00000534141, ENST00000260056, ENST00000527633, ENST00000525117, ENST00000532548, | ENST00000540367, ENST00000376618, ENST00000265641, ENST00000539743, ENST00000537756, ENST00000538994, | |
| Fusion gene scores | * DoF score | 5 X 2 X 5=50 | 6 X 3 X 5=90 |
| # samples | 5 | 6 | |
| ** MAII score | log2(5/50*10)=0 | log2(6/90*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RAB30 [Title/Abstract] AND CPT1A [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 | CPT1A | GO:0001676 | long-chain fatty acid metabolic process | 11350182 |
| Tgene | CPT1A | GO:0009437 | carnitine metabolic process | 11350182 |
| 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 | LGG | TCGA-DU-A7T6-01A | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| * 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 | ENST00000533486 | ENST00000540367 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| 5CDS-5UTR | ENST00000533486 | ENST00000376618 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| 5CDS-5UTR | ENST00000533486 | ENST00000265641 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| 5CDS-5UTR | ENST00000533486 | ENST00000539743 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| 5CDS-intron | ENST00000533486 | ENST00000537756 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| 5CDS-intron | ENST00000533486 | ENST00000538994 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| 5CDS-5UTR | ENST00000534141 | ENST00000540367 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| 5CDS-5UTR | ENST00000534141 | ENST00000376618 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| 5CDS-5UTR | ENST00000534141 | ENST00000265641 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| 5CDS-5UTR | ENST00000534141 | ENST00000539743 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| 5CDS-intron | ENST00000534141 | ENST00000537756 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| 5CDS-intron | ENST00000534141 | ENST00000538994 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| 5CDS-5UTR | ENST00000260056 | ENST00000540367 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| 5CDS-5UTR | ENST00000260056 | ENST00000376618 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| 5CDS-5UTR | ENST00000260056 | ENST00000265641 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| 5CDS-5UTR | ENST00000260056 | ENST00000539743 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| 5CDS-intron | ENST00000260056 | ENST00000537756 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| 5CDS-intron | ENST00000260056 | ENST00000538994 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| 5CDS-5UTR | ENST00000527633 | ENST00000540367 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| 5CDS-5UTR | ENST00000527633 | ENST00000376618 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| 5CDS-5UTR | ENST00000527633 | ENST00000265641 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| 5CDS-5UTR | ENST00000527633 | ENST00000539743 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| 5CDS-intron | ENST00000527633 | ENST00000537756 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| 5CDS-intron | ENST00000527633 | ENST00000538994 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| intron-5UTR | ENST00000525117 | ENST00000540367 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| intron-5UTR | ENST00000525117 | ENST00000376618 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| intron-5UTR | ENST00000525117 | ENST00000265641 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| intron-5UTR | ENST00000525117 | ENST00000539743 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| intron-intron | ENST00000525117 | ENST00000537756 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| intron-intron | ENST00000525117 | ENST00000538994 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| intron-5UTR | ENST00000532548 | ENST00000540367 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| intron-5UTR | ENST00000532548 | ENST00000376618 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| intron-5UTR | ENST00000532548 | ENST00000265641 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| intron-5UTR | ENST00000532548 | ENST00000539743 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| intron-intron | ENST00000532548 | ENST00000537756 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
| intron-intron | ENST00000532548 | ENST00000538994 | RAB30 | chr11 | 82698629 | - | CPT1A | chr11 | 68582955 | - |
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FusionProtFeatures for RAB30_CPT1A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RAB30 | CPT1A |
| The small GTPases Rab are key regulators ofintracellular membrane trafficking, from the formation oftransport vesicles to their fusion with membranes. Rabs cyclebetween an inactive GDP-bound form and an active GTP-bound formthat is able to recruit to membranes different set of downstreameffectors directly responsible for vesicle formation, movement,tethering and fusion (By similarity). Required for maintaining thestructural integrity of the Golgi apparatus, possibly by mediatinginteractions with cytoplasmic scaffolding proteins. {ECO:0000250,ECO:0000269|PubMed:22188167}. | Catalyzes the transfer of the acyl group of long-chainfatty acid-CoA conjugates onto carnitine, an essential step forthe mitochondrial uptake of long-chain fatty acids and theirsubsequent beta-oxidation in the mitochondrion. Plays an importantrole in triglyceride metabolism. |
| 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 RAB30_CPT1A |
| 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 RAB30_CPT1A |
| 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 |
| RAB30 | EIF5A2, CDC73, HTT, CHML, F8A1, CHM, USP4, D2HGDH, RANGRF, UHRF1BP1, PHLDB3, TRAPPC10, TRAPPC9, VPS13C, VASP, CUX1, ACOX1, TRAPPC4, DPH1, DTNA, UBB, XPNPEP1, LLGL2, RABGGTA, COG4 | CPT1A | CLN3, PCK1, EIF3C, CPS1, LPP, TOMM40, ATP6V1C1, RHOA, NDUFA2, ERLIN1, NDUFV1, NDUFS1, PCBP1, SNRNP200, PARK2, LYN, HDAC11, CLIC1, NPDC1, CYBA, NR4A1, HSPA5, KBTBD7, FBXO6, LGR4, ENO1, MOV10, NXF1, RNF2, NTRK1, HERC2, TUBG1, RAB7A, HDAC6, HUWE1, COQ9, NDUFA4, TBC1D9, GABRG2, UBC, PDHA1, SDHA, TRIM25 |
| - 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 RAB30_CPT1A |
| 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 | CPT1A | P50416 | DB01016 | Glyburide | Carnitine O-palmitoyltransferase 1, liver isoform | small molecule | approved |
| Tgene | CPT1A | P50416 | DB00583 | L-Carnitine | Carnitine O-palmitoyltransferase 1, liver isoform | small molecule | approved|investigational |
| Tgene | CPT1A | P50416 | DB01074 | Perhexiline | Carnitine O-palmitoyltransferase 1, liver isoform | small molecule | approved|investigational |
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RelatedDiseases for RAB30_CPT1A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RAB30 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | CPT1A | C1829703 | Carnitine palmitoyl transferase 1A deficiency | 6 | CTD_human;ORPHANET;UNIPROT |
| Tgene | CPT1A | C0011849 | Diabetes Mellitus | 1 | CTD_human |
| Tgene | CPT1A | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
| Tgene | CPT1A | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| Tgene | CPT1A | C0022661 | Kidney Failure, Chronic | 1 | CTD_human |
| Tgene | CPT1A | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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