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Fusion gene ID: 3471 |
FusionGeneSummary for ATP6V1D_CBS |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ATP6V1D_CBS | Fusion gene ID: 3471 | Hgene | Tgene | Gene symbol | ATP6V1D | CBS | Gene ID | 51382 | 875 |
| Gene name | ATPase H+ transporting V1 subunit D | cystathionine-beta-synthase | |
| Synonyms | ATP6M|VATD|VMA8 | HIP4 | |
| Cytomap | 14q23.3 | 21q22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | V-type proton ATPase subunit DATPase, H+ transporting lysosomal, member MATPase, H+ transporting, lysosomal (vacuolar proton pump)ATPase, H+ transporting, lysosomal 34kDa, V1 subunit DH(+)-transporting two-sector ATPase, subunit MV-ATPase 28 kDa acce | cystathionine beta-synthasebeta-thionasemethylcysteine synthaseserine sulfhydrase | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9Y5K8 | P35520 | |
| Ensembl transtripts involved in fusion gene | ENST00000553974, ENST00000555474, ENST00000216442, ENST00000555431, ENST00000554236, | ENST00000398158, ENST00000398165, ENST00000359624, ENST00000352178, ENST00000398168, ENST00000544202, ENST00000470912, | |
| Fusion gene scores | * DoF score | 4 X 4 X 3=48 | 13 X 4 X 8=416 |
| # samples | 4 | 11 | |
| ** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(11/416*10)=-1.91908000461643 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ATP6V1D [Title/Abstract] AND CBS [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 | CBS | GO:0006563 | L-serine metabolic process | 19010420 |
| Tgene | CBS | GO:0006565 | L-serine catabolic process | 18776696 |
| Tgene | CBS | GO:0019344 | cysteine biosynthetic process | 24416422 |
| Tgene | CBS | GO:0019448 | L-cysteine catabolic process | 15520012 |
| Tgene | CBS | GO:0043418 | homocysteine catabolic process | 18776696|24416422 |
| Tgene | CBS | GO:0050667 | homocysteine metabolic process | 19010420|20031578|23981774 |
| Tgene | CBS | GO:0070814 | hydrogen sulfide biosynthetic process | 15520012|24416422 |
| 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 | PRAD | TCGA-G9-6371-01A | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| * 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-intron | ENST00000553974 | ENST00000398158 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| intron-intron | ENST00000553974 | ENST00000398165 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| intron-intron | ENST00000553974 | ENST00000359624 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| intron-intron | ENST00000553974 | ENST00000352178 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| intron-intron | ENST00000553974 | ENST00000398168 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| intron-intron | ENST00000553974 | ENST00000544202 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| intron-intron | ENST00000553974 | ENST00000470912 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| 5CDS-intron | ENST00000555474 | ENST00000398158 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| 5CDS-intron | ENST00000555474 | ENST00000398165 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| 5CDS-intron | ENST00000555474 | ENST00000359624 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| 5CDS-intron | ENST00000555474 | ENST00000352178 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| 5CDS-intron | ENST00000555474 | ENST00000398168 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| 5CDS-intron | ENST00000555474 | ENST00000544202 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| 5CDS-intron | ENST00000555474 | ENST00000470912 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| 5CDS-intron | ENST00000216442 | ENST00000398158 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| 5CDS-intron | ENST00000216442 | ENST00000398165 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| 5CDS-intron | ENST00000216442 | ENST00000359624 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| 5CDS-intron | ENST00000216442 | ENST00000352178 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| 5CDS-intron | ENST00000216442 | ENST00000398168 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| 5CDS-intron | ENST00000216442 | ENST00000544202 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| 5CDS-intron | ENST00000216442 | ENST00000470912 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| intron-intron | ENST00000555431 | ENST00000398158 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| intron-intron | ENST00000555431 | ENST00000398165 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| intron-intron | ENST00000555431 | ENST00000359624 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| intron-intron | ENST00000555431 | ENST00000352178 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| intron-intron | ENST00000555431 | ENST00000398168 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| intron-intron | ENST00000555431 | ENST00000544202 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| intron-intron | ENST00000555431 | ENST00000470912 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| intron-intron | ENST00000554236 | ENST00000398158 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| intron-intron | ENST00000554236 | ENST00000398165 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| intron-intron | ENST00000554236 | ENST00000359624 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| intron-intron | ENST00000554236 | ENST00000352178 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| intron-intron | ENST00000554236 | ENST00000398168 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| intron-intron | ENST00000554236 | ENST00000544202 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
| intron-intron | ENST00000554236 | ENST00000470912 | ATP6V1D | chr14 | 67804788 | - | CBS | chr21 | 44476011 | - |
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FusionProtFeatures for ATP6V1D_CBS |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ATP6V1D | CBS |
| Subunit of the peripheral V1 complex of vacuolar ATPase.Vacuolar ATPase is responsible for acidifying a variety ofintracellular compartments in eukaryotic cells, thus providingmost of the energy required for transport processes in thevacuolar system (By similarity). May play a role in ciliumbiogenesis through regulation of the transport and thelocalization of proteins to the cilium. {ECO:0000250,ECO:0000269|PubMed:21844891}. | Hydro-lyase catalyzing the first step of thetranssulfuration pathway, where the hydroxyl group of L-serine isdisplaced by L-homocysteine in a beta-replacement reaction to formL-cystathionine, the precursor of L-cysteine. This catabolic routeallows the elimination of L-methionine and the toxic metabolite L-homocysteine (PubMed:23981774, PubMed:20506325, PubMed:23974653).Also involved in the production of hydrogen sulfide, agasotransmitter with signaling and cytoprotective effects onneurons (By similarity). {ECO:0000250|UniProtKB:P32232,ECO:0000269|PubMed:20506325, ECO:0000269|PubMed:23974653,ECO:0000269|PubMed:23981774}. |
| 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 ATP6V1D_CBS |
| 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 ATP6V1D_CBS |
| 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 |
| ATP6V1D | TOMM34, ATP6V1B1, ATP6V1E1, ATP6V1H, ATP6V1F, ATP6V1B2, TCIRG1, ATP6V0A1, ATP6V0A2, XPNPEP1, PTRH2, RPS15, MRPL40, SNX8, DDX28, MPV17, RPS18, ABCB7, GOLGA2, VPS52, C9orf16, ATP6AP2, ATP6V1C2, AIMP2, ATP6V0D1, ATP6V1A, ATP6V1G1, CIAPIN1, COMMD4, MAPK1, RANBP1, COMMD8, CUL2, MCMBP, SEC31A, CLTC, MYH7, PPP2CA, PSMC1, USP7, GOLT1B, COG6, FXYD1, TLDC2, TNFRSF8, DEFA5, UBA5, MARCKSL1, NDUFA13, SPINK2 | CBS | VTA1, FXR2, HID1, CBS, HGS, UBC, PRKAR1A, CDK2, COL4A3BP, GPSM1, DAXX, UGP2, C14orf142, DBNL, DERA, NPLOC4, NUCB1, PKM, PLIN3, ERO1L, GOPC, GPN1, HSF1, IPO4, IREB2, LRSAM1, PARP6, PDLIM5, RAD23B, SRP14, UBA2, UBA5, PIAS1, PIAS3, UBE2I, RANBP9, CBX4, EHHADH, PIN1, PRKAG1, PSMA1, UBASH3A, ZDHHC17, AP1B1, CARS, ABAT, ASNS, EEF1A1, ENOPH1, OAT, RSU1, RTFDC1, SKIV2L, VBP1, CTH, HSPE1, IARS, NMD3, QARS, SEC24B, SEC31A, UBE3B, NTRK1, NF2, OTUB1, PTPRR, NEK7, PA2G4, TRAP1, UBE2N |
| - 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 ATP6V1D_CBS |
| 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 | CBS | P35520 | DB00114 | Pyridoxal Phosphate | Cystathionine beta-synthase {ECO:0000305} | small molecule | approved|investigational|nutraceutical |
| Tgene | CBS | P35520 | DB00118 | Ademetionine | Cystathionine beta-synthase {ECO:0000305} | small molecule | approved|investigational|nutraceutical |
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RelatedDiseases for ATP6V1D_CBS |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ATP6V1D | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | ATP6V1D | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
| Tgene | CBS | C0751202 | Cystathionine beta-Synthase Deficiency Disease | 29 | ORPHANET;UNIPROT |
| Tgene | CBS | C0598608 | Hyperhomocysteinemia | 3 | CTD_human |
| Tgene | CBS | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Tgene | CBS | C0007222 | Cardiovascular Diseases | 1 | CTD_human |
| Tgene | CBS | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| Tgene | CBS | C0020538 | Hypertensive disease | 1 | CTD_human;HPO |
| Tgene | CBS | C0024305 | Lymphoma, Non-Hodgkin | 1 | CTD_human |
| Tgene | CBS | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | CBS | C0162429 | Malnutrition | 1 | CTD_human |
| Tgene | CBS | C0338715 | Drug-induced depressive state | 1 | PSYGENET |
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