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Fusion gene ID: 28858 |
FusionGeneSummary for PRPF31_CACNG7 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PRPF31_CACNG7 | Fusion gene ID: 28858 | Hgene | Tgene | Gene symbol | PRPF31 | CACNG7 | Gene ID | 26121 | 59284 |
| Gene name | pre-mRNA processing factor 31 | calcium voltage-gated channel auxiliary subunit gamma 7 | |
| Synonyms | NY-BR-99|PRP31|RP11|SNRNP61 | - | |
| Cytomap | 19q13.42 | 19q13.42 | |
| Type of gene | protein-coding | protein-coding | |
| Description | U4/U6 small nuclear ribonucleoprotein Prp31PRP31 pre-mRNA processing factor 31 homologU4/U6 snRNP 61 kDa proteinhPrp31protein 61Kserologically defined breast cancer antigen NY-BR-99 | voltage-dependent calcium channel gamma-7 subunitTARP gamma-7calcium channel, voltage-dependent, gamma subunit 7neuronal voltage-gated calcium channel gamma-7 subunittransmembrane AMPAR regulatory protein gamma-7 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q8WWY3 | P62955 | |
| Ensembl transtripts involved in fusion gene | ENST00000321030, ENST00000419967, ENST00000391755, ENST00000498612, | ENST00000468076, ENST00000391767, ENST00000222212, ENST00000391766, | |
| Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 1 X 1 X 1=1 |
| # samples | 3 | 1 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: PRPF31 [Title/Abstract] AND CACNG7 [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 | PRPF31 | GO:0000244 | spliceosomal tri-snRNP complex assembly | 11867543 |
| Hgene | PRPF31 | GO:0000398 | mRNA splicing, via spliceosome | 11867543|28781166 |
| Tgene | CACNG7 | GO:2000311 | regulation of AMPA receptor activity | 21172611 |
| 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 | OV | TCGA-13-A5FT-01A | PRPF31 | chr19 | 54622013 | + | CACNG7 | chr19 | 54445290 | + |
| * 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-intron | ENST00000321030 | ENST00000468076 | PRPF31 | chr19 | 54622013 | + | CACNG7 | chr19 | 54445290 | + |
| 5CDS-intron | ENST00000321030 | ENST00000391767 | PRPF31 | chr19 | 54622013 | + | CACNG7 | chr19 | 54445290 | + |
| 5CDS-intron | ENST00000321030 | ENST00000222212 | PRPF31 | chr19 | 54622013 | + | CACNG7 | chr19 | 54445290 | + |
| 5CDS-intron | ENST00000321030 | ENST00000391766 | PRPF31 | chr19 | 54622013 | + | CACNG7 | chr19 | 54445290 | + |
| 5CDS-intron | ENST00000419967 | ENST00000468076 | PRPF31 | chr19 | 54622013 | + | CACNG7 | chr19 | 54445290 | + |
| 5CDS-intron | ENST00000419967 | ENST00000391767 | PRPF31 | chr19 | 54622013 | + | CACNG7 | chr19 | 54445290 | + |
| 5CDS-intron | ENST00000419967 | ENST00000222212 | PRPF31 | chr19 | 54622013 | + | CACNG7 | chr19 | 54445290 | + |
| 5CDS-intron | ENST00000419967 | ENST00000391766 | PRPF31 | chr19 | 54622013 | + | CACNG7 | chr19 | 54445290 | + |
| 5CDS-intron | ENST00000391755 | ENST00000468076 | PRPF31 | chr19 | 54622013 | + | CACNG7 | chr19 | 54445290 | + |
| 5CDS-intron | ENST00000391755 | ENST00000391767 | PRPF31 | chr19 | 54622013 | + | CACNG7 | chr19 | 54445290 | + |
| 5CDS-intron | ENST00000391755 | ENST00000222212 | PRPF31 | chr19 | 54622013 | + | CACNG7 | chr19 | 54445290 | + |
| 5CDS-intron | ENST00000391755 | ENST00000391766 | PRPF31 | chr19 | 54622013 | + | CACNG7 | chr19 | 54445290 | + |
| 3UTR-intron | ENST00000498612 | ENST00000468076 | PRPF31 | chr19 | 54622013 | + | CACNG7 | chr19 | 54445290 | + |
| 3UTR-intron | ENST00000498612 | ENST00000391767 | PRPF31 | chr19 | 54622013 | + | CACNG7 | chr19 | 54445290 | + |
| 3UTR-intron | ENST00000498612 | ENST00000222212 | PRPF31 | chr19 | 54622013 | + | CACNG7 | chr19 | 54445290 | + |
| 3UTR-intron | ENST00000498612 | ENST00000391766 | PRPF31 | chr19 | 54622013 | + | CACNG7 | chr19 | 54445290 | + |
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FusionProtFeatures for PRPF31_CACNG7 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PRPF31 | CACNG7 |
| Involved in pre-mRNA splicing as component of thespliceosome (PubMed:11867543, PubMed:28781166). Required for theassembly of the U4/U5/U6 tri-snRNP complex, one of the buildingblocks of the spliceosome (PubMed:11867543).{ECO:0000269|PubMed:11867543, ECO:0000269|PubMed:28781166}. | Regulates the activity of L-type calcium channels thatcontain CACNA1C as pore-forming subunit (PubMed:21127204).Regulates the trafficking and gating properties of AMPA-selectiveglutamate receptors (AMPARs). Promotes their targeting to the cellmembrane and synapses and modulates their gating properties byslowing their rates of activation, deactivation anddesensitization and by mediating their resensitization. Displayssubunit-specific AMPA receptor regulation. Shows specificity onlyfor GRIA1 and GRIA2 (PubMed:21172611).{ECO:0000269|PubMed:21127204, ECO:0000269|PubMed:21172611}. |
| 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 PRPF31_CACNG7 |
| 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 PRPF31_CACNG7 |
| 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 |
| PRPF31 | FANCA, USP15, USP39, USP4, PRPF4, SART3, MEPCE, TAF10, RPAP2, CTNNBL1, KPNA2, KPNA1, CHAF1A, AGO3, CUL3, COPS5, RNU4ATAC, RNU6ATAC, NHP2L1, PPIH, PRPF3, PRPF31, PRPF6, SART1, SF3B1, SF3B3, XAB2, SF3A1, SF3A3, SNRPA1, SNRPB2, SF3A2, PHF5A, PRKAR1A, TFDP1, UPF2, STRN3, SMURF1, RBM25, RBM4, HNRNPH2, GNB2L1, UBL4A, PRPF4B, WWOX, VCP, AES, PHC2, GOLGA2, HNRNPK, KRT15, RBMY1A1, TRIM27, SIAH1, TADA2A, TP53BP2, MKRN3, STX11, PSTPIP1, PNMA1, PDE4DIP, JAKMIP2, TMCC2, CALCOCO2, KHDRBS3, PNMA2, MID2, MTUS2, LDOC1, TFIP11, CDCA7L, ZNF250, CCDC136, CEP70, TSGA10, ZNF587, C1QTNF1, SSX2IP, KRT40, PRICKLE1, MIPOL1, RBMY1F, KCTD6, KHDRBS2, CCDC57, KRTAP10-9, KRTAP10-1, KRTAP10-8, KRTAP10-3, NOTCH2NL, LURAP1, OBSL1, SNRNP40, BZW1, HNRNPA1, NTRK1, CD2BP2, DDX23, EFTUD2, FBL, SNRPD1, SNRPD2, PRPF8, SNRNP200, KRAS, XPO1, HIST1H3E, AHSA1, RNPS1, RPL10, CTR9, WIZ, FOXB1, GAN, RC3H1, ZNF746, DIEXF, ZNF622, TUT1, FBRS, MTHFR, SNRPF, SNRPG, SNRPN, LSM6, LSM5, SUFU, WBP4, SNRPE, ARIH1, SNRPB, RPS19, OLA1, OSBPL1A, SNRPD3, SSB, TTC21B, COPS8, IFT46, UBE2N, RANBP9, FANCC, CYLD, TRIM25, RNU4-1, ZNHIT3, NUFIP1, RUVBL1, SMN1 | CACNG7 |
| - 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 PRPF31_CACNG7 |
| 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 PRPF31_CACNG7 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PRPF31 | C1838601 | Retinitis Pigmentosa 11 | 1 | CTD_human;UNIPROT |
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