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Fusion gene ID: 30005 |
FusionGeneSummary for RAB3GAP2_CNIH4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RAB3GAP2_CNIH4 | Fusion gene ID: 30005 | Hgene | Tgene | Gene symbol | RAB3GAP2 | CNIH4 | Gene ID | 25782 | 29097 |
| Gene name | RAB3 GTPase activating non-catalytic protein subunit 2 | cornichon family AMPA receptor auxiliary protein 4 | |
| Synonyms | RAB3-GAP150|RAB3GAP150|SPG69|WARBM2|p150 | CNIH-4|CNIH2|HSPC163 | |
| Cytomap | 1q41 | 1q42.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | rab3 GTPase-activating protein non-catalytic subunitRAB3 GTPase activating protein subunit 2 (non-catalytic)RGAP-isorab3 GTPase-activating protein 150 kDa subunitrab3-GAP p150rab3-GAP regulatory subunit | protein cornichon homolog 4cornichon homolog 4 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9H2M9 | Q9P003 | |
| Ensembl transtripts involved in fusion gene | ENST00000358951, ENST00000462353, | ENST00000465271, ENST00000366858, ENST00000366857, ENST00000468318, ENST00000366856, | |
| Fusion gene scores | * DoF score | 6 X 7 X 5=210 | 4 X 3 X 4=48 |
| # samples | 7 | 4 | |
| ** MAII score | log2(7/210*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RAB3GAP2 [Title/Abstract] AND CNIH4 [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 |
| 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-A2-A1FW-01A | RAB3GAP2 | chr1 | 220383730 | - | CNIH4 | chr1 | 224563497 | + |
| * 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 |
| In-frame | ENST00000358951 | ENST00000465271 | RAB3GAP2 | chr1 | 220383730 | - | CNIH4 | chr1 | 224563497 | + |
| 5CDS-intron | ENST00000358951 | ENST00000366858 | RAB3GAP2 | chr1 | 220383730 | - | CNIH4 | chr1 | 224563497 | + |
| 5CDS-intron | ENST00000358951 | ENST00000366857 | RAB3GAP2 | chr1 | 220383730 | - | CNIH4 | chr1 | 224563497 | + |
| 5CDS-3UTR | ENST00000358951 | ENST00000468318 | RAB3GAP2 | chr1 | 220383730 | - | CNIH4 | chr1 | 224563497 | + |
| 5CDS-intron | ENST00000358951 | ENST00000366856 | RAB3GAP2 | chr1 | 220383730 | - | CNIH4 | chr1 | 224563497 | + |
| intron-3CDS | ENST00000462353 | ENST00000465271 | RAB3GAP2 | chr1 | 220383730 | - | CNIH4 | chr1 | 224563497 | + |
| intron-intron | ENST00000462353 | ENST00000366858 | RAB3GAP2 | chr1 | 220383730 | - | CNIH4 | chr1 | 224563497 | + |
| intron-intron | ENST00000462353 | ENST00000366857 | RAB3GAP2 | chr1 | 220383730 | - | CNIH4 | chr1 | 224563497 | + |
| intron-3UTR | ENST00000462353 | ENST00000468318 | RAB3GAP2 | chr1 | 220383730 | - | CNIH4 | chr1 | 224563497 | + |
| intron-intron | ENST00000462353 | ENST00000366856 | RAB3GAP2 | chr1 | 220383730 | - | CNIH4 | chr1 | 224563497 | + |
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FusionProtFeatures for RAB3GAP2_CNIH4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RAB3GAP2 | CNIH4 |
| Regulatory subunit of a GTPase activating protein thathas specificity for Rab3 subfamily (RAB3A, RAB3B, RAB3C andRAB3D). Rab3 proteins are involved in regulated exocytosis ofneurotransmitters and hormones. Rab3 GTPase-activating complexspecifically converts active Rab3-GTP to the inactive form Rab3-GDP. Required for normal eye and brain development. Mayparticipate in neurodevelopmental processes such as proliferation,migration and differentiation before synapse formation, and non-synaptic vesicular release of neurotransmitters.{ECO:0000269|PubMed:9733780}. | Involved in G protein-coupled receptors (GPCRs)trafficking from the endoplasmic reticulum to the cell surface; itpromotes the exit of GPCRs from the early secretory pathway,likely through interaction with the COPII machinery(PubMed:24405750). {ECO:0000269|PubMed:24405750}. |
| 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 |
| Tgene | >CNIH4 | chr1:220383730 | chr1:224563497 | ENST00000366857 | + | 2 | 4 | 118_138 | 83 | 93 | Transmembrane | Helical |
| - 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 |
| Tgene | CNIH4 | chr1:220383730 | chr1:224563497 | ENST00000366857 | + | 2 | 4 | 57_77 | 83 | 93 | Transmembrane | Helical |
| Tgene | CNIH4 | chr1:220383730 | chr1:224563497 | ENST00000366857 | + | 2 | 4 | 5_25 | 83 | 93 | Transmembrane | Helical |
| Tgene | CNIH4 | chr1:220383730 | chr1:224563497 | ENST00000465271 | + | 3 | 5 | 118_138 | 130 | 140 | Transmembrane | Helical |
| Tgene | CNIH4 | chr1:220383730 | chr1:224563497 | ENST00000465271 | + | 3 | 5 | 57_77 | 130 | 140 | Transmembrane | Helical |
| Tgene | CNIH4 | chr1:220383730 | chr1:224563497 | ENST00000465271 | + | 3 | 5 | 5_25 | 130 | 140 | Transmembrane | Helical |
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FusionGeneSequence for RAB3GAP2_CNIH4 |
| 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. |
| >In-frame_RAB3GAP2_ENST00000358951_chr1_220383730_-_CNIH4_ENST00000465271_chr1_224563497_+_213aa MACSIVQFCYFQDLQAARDFLFPHLREEILSGALRRDPSKSTDWEDDGWGAWEENEPQEPEEEGNTCKTQKTSWLQDCVLSLSPTNDLMV IAREQKAVFLVPKWKYSDKGKEEMQFAVGWSGSLNVEEGECVTSALCIPLASQKRSSTGRPDWTCIVVGFTSGYVRFYTENGVLLLAQLL |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_RAB3GAP2_ENST00000358951_chr1_220383730_-_CNIH4_ENST00000465271_chr1_224563497_+_640nt ATGGCCTGCTCCATTGTCCAGTTCTGCTACTTCCAGGACCTCCAGGCCGCCCGGGACTTCCTCTTTCCTCACCTGCGGGAGGAGATCCTC AGCGGCGCCTTGCGGAGGGACCCCAGTAAATCAACAGACTGGGAAGATGATGGTTGGGGAGCATGGGAAGAAAATGAACCACAAGAACCT GAAGAAGAAGGAAATACTTGCAAAACACAAAAAACTTCCTGGCTCCAAGATTGTGTTTTATCCTTATCTCCAACCAATGATCTTATGGTG ATAGCTCGAGAGCAAAAAGCTGTATTTCTAGTGCCAAAATGGAAATATAGTGATAAAGGAAAGGAAGAAATGCAATTTGCTGTTGGCTGG AGTGGTTCCTTAAATGTCGAAGAAGGGGAATGTGTAACCAGTGCTCTATGTATCCCACTAGCAAGCCAAAAGAGGAGTTCCACTGGGCGT CCTGACTGGACCTGCATTGTGGTGGGTTTTACTTCAGGTTATGTACGCTTCTACACTGAGAATGGTGTGCTCTTGCTTGCACAGCTTTTG AATGAGGACCCAGTACTTCAACTTAAATGCAGAACCTATGAAATACCACGACATCCCGGCGTGACTGAGCAGTATGATCTTAGCTTTGAT |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_RAB3GAP2_ENST00000358951_chr1_220383730_-_CNIH4_ENST00000465271_chr1_224563497_+_4387nt GGTTTCTCCGCCTTCTGCTTGGCTAGAGCTATTGGGGCTCGGTGGCGGCCGCAGTGGGGTGGAGGGGGCAGGGCGTGGTGAGGTAAGGTG AGTGCCGTAGTGGGGTTCCCTGGAGCCATGGCCTGCTCCATTGTCCAGTTCTGCTACTTCCAGGACCTCCAGGCCGCCCGGGACTTCCTC TTTCCTCACCTGCGGGAGGAGATCCTCAGCGGCGCCTTGCGGAGGGACCCCAGTAAATCAACAGACTGGGAAGATGATGGTTGGGGAGCA TGGGAAGAAAATGAACCACAAGAACCTGAAGAAGAAGGAAATACTTGCAAAACACAAAAAACTTCCTGGCTCCAAGATTGTGTTTTATCC TTATCTCCAACCAATGATCTTATGGTGATAGCTCGAGAGCAAAAAGCTGTATTTCTAGTGCCAAAATGGAAATATAGTGATAAAGGAAAG GAAGAAATGCAATTTGCTGTTGGCTGGAGTGGTTCCTTAAATGTCGAAGAAGGGGAATGTGTAACCAGTGCTCTATGTATCCCACTAGCA AGCCAAAAGAGGAGTTCCACTGGGCGTCCTGACTGGACCTGCATTGTGGTGGGTTTTACTTCAGGTTATGTACGCTTCTACACTGAGAAT GGTGTGCTCTTGCTTGCACAGCTTTTGAATGAGGACCCAGTACTTCAACTTAAATGCAGAACCTATGAAATACCACGACATCCCGGCGTG ACTGAGCAGTATGATCTTAGCTTTGATAAATGACTGAAGCTGGAGAAGCCGTGGTTGAAGTCAGCCTACACTACAGTGCACAGTTGAGGA GCCAGAGACTTCTTAAATCATCCTTAGAACCGTGACCATAGCAGTATATATTTTCCTCTTGGAACAAAAAACTATTTTTGCTGTATTTTT ACCATATAAAGTATTTAAAAAACATGAATTGAGTTTCTGTAGATTTCTAGTTCTCAACTTTAGCCTGAACGCCAACACTTGAAGGTGTTT TTCATCCTCTGTATGTTGAAGGTGGTTATTTGTATGTAGGAACAGGACTGCCATCCCAGCTTTGCATGCCAAAGAAATAAAGAACACACT TTAAAGGGCAAACTGAAGAGATGAGCGAGCAAAGGTGCCCTTCAGGTCTACTGAAAAGTTAGAGTACAAAACAACACTGTTGATCTGGAC AAAAGAAGAAAAATTACCCTTTTTGCTTGTGTTGTGACAACTTCATTTAATATGGTTTAAAGATTTATGAGACTGTCAGCTAAAAGTCTT TTCACAAGAATGTCAACAGAGAATGGCATCTCAAAATATATATATTTCTTTGCACAATTTGTGAAACCTTATAAGCCATTTTCCCCAGGT ACAATGTAGTTCCTGCTGATAGAAAGGAAATATTTTGTCAAGAGCTTTCATTTAAAAGCTACTACCTCCACAATCACCCCCAAACCCAGA AAATCCCCACTGGCTCTTGCCAGTCTGGTTTTCGTATTGCAGTTATTCCAATTGTATTTGATCTCCCTGATAACGTATTTTCATGGGTTT GGGTAGAAGATGCTAATCAGATTAGAAGCAGGAATAGTTATTTGCTGTCTGTGAAATTGAGCCTTTTGGTGCGCCACGTGGTGCCAGATC AACACTTCTATCCCTCTGCACTGACCACGTTGTGAACTGGGAGACCAAATGCAAGCCATTTCATGGACATAGCAATATACAACCAAACTC TGTTCCTTGGAGTTATATTGTAAACTCTTGCAGGTGGGAGAGCAGTTCACCTCCTTAGCTCTGTTTGCCAGCTCTTACAGGGTAAAATAA ACCTGGCAATTTATCCTCAGTCCTAGTTTGTGGTTTAATGTTGCTATCTTAAGCACTGGCATTTGGGCAAAACATGACTGTGTTCTGTGG GAGAATCCAAAGGCATTATTCACTCTAGTTGAGATAGAATTGGGTGGCTAAACAGGGTGTGTGGTACCCAAAAGATTAAATGTTACATGT CCTTTTAGTCCTTGACCAGGTCTAGCCTTGGCAGAAGCAAGGGAGCCACTAAGCCAAACTCCCTGTGCAGACAGACCATGTTTCAAGGCT GGAAGTAGTGCCCTGGCAACACACAAAAGGAACGGTGAAATGGTAGGCAAAGTGAACTTGGCTCTGCTGGCCTCTTTGGGGTCACAGAAA TTGCTCCTTGTGGTAATCTTATATTTCTGTCAGGCACAGGGCCAAGAAGCTGTGTAACAGACATTACTTTGCTTGCATCTCTTTTTCATA CCTTTTCCCTCTGAGGCAGCTTTTGCTTAGAAAACAGTCCCTTCACTCTGCCTTTCCTCCTAACTTCCTGTGCCTCTTCATGTTCTGCTC AAGCTTTTTAAAGCAACGAAGCTGTTGGAGAACTTAAATCCTTGCAACTGAGAGATAAGCTACTTAAAGGCGGTAGAGATCTTTTTTTTT TTTTTTTTGAGATGGGGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCTTTCTGGGTTCA AGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACGGCTAGCTACTCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTT CACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAACGATCTGCCTGCCTTGGTCTCCCAAAGTGCTGGGATTATAGGTGTGAGC CACTGCGCCTGGCCATGTAGATGACTTTTGACCAAAATGTTTCACCTTCTCATTCAGATATTCTTAGTAACCAAAACAGTGACTCATGCA GTTGAGAGAGCCTTTGGGCTGTCAGTTTACAGTACATCAGGCTTGCTGAGGCTAAGCAAATCAGAAAGGTGCCATGTTTATAACAGAGGT CAAAGCTCCTTACTTCTGAAACATTAGCTGTGGTTAAAAACAAAAACTCTTCCTTCTTGTATTGCTTGTCTATCAAAGCCAGGAAAGTGG GGGATCACTGTAGTTAAATTTTTTTTTTTTTTAATTAGAGACAGAGTCTTGCCCTGTCGCCCAAGCTGGAGTGCACTGGCGCAATCGTGG TACACTGCAGCCTTGAACTCCTGGACTCAAGCAGTCCTCCTGCCTCAGCTTCCCAAGTAGTTGGGAGTAGGTGCACACCACCATGCCCAG CGAATTTTTTGTAGAGACAGAGGTCTTGCTATGTTGCCTAGGCTGGTATCAAAATTACTGGCCTCAAGCGATTCTCCTGCCTCGGCCTCC CAGATGTTGGGATTACTGGTGTGAGCCACCACGCCCAGCTCAAAAACAATTTTTTTAGGGGCACTTCTACAAATCATGAAAGGGGGATAA AAGCACTGACTTTAAAAAGCCATGTTTAAGATGCTATAAATGTTCTCCCCTTTTCATTGATTGGAGAGTTGTAGAGGACCTTAGAGATCA TTTTGTCTAACTCCCTCATCCCAAAGATAAACTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAGGCCTA GAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCT GAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATC TGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTG GGAACATCTGAATGCTGAGGCCTAGAGATCGTTCAGGGTGTTGTAACTGGGAACATCTGAATGCTGAGGCTTAGTCCAGTGTTCTCTCTC CCTTACCACTCCTCTTCCCCTTCCCTCTATAATGGCAGTACCCAGGGCCCGGTCCATAGACTACTATCGAGTGCTCCTATGTGCATCTTA GTACGTATCATTTTCCCTTGCCTTTTTCCTTCTATCCTTTCAGTGGTAGCAACTGCCCTTGCTAATCACCGTAACCTCGGCTGAGAAAGA AGAGGAAGCGAAATCCAAGATGCAGCTCAGTTCATCAAAGCCTAGCAGGTCCCCTCAGCTGCCTTTTCATGCCTGCCACAGACTACAGTA GGACAAAACCTGACCTGGTCTTTGAAGTTAAGAGCTAAGAAAGCTTCCTATAGTAGTATCTCCCATGGCACTTACCACATTCTATCTGGT ATTACAGTTATTTGTATGCAATTAATCACTCTTAGATTGTATGTTCCTGGAGGGCAGAATATGCCCATTCATATTTGTATCTTCTTCCTT |
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FusionGenePPI for RAB3GAP2_CNIH4 |
| 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 |
| RAB3GAP2 | PTP4A3, MAP1LC3A, SHC1, LMAN1, RBM26, NUP43, UTP20, PAXIP1, VCP, EXOSC6, GABPA, GNE, NUDCD3, RAB3GAP1, RBM12, SMARCAD1, TSEN34, VAPB, VAPA, SIRT2, NTRK1, TRIM25, TES | CNIH4 | TOR1A, ABCE1, UNK, TCTN2, TCTN3, GLP1R, PTPRN, PTPRO |
| - 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 RAB3GAP2_CNIH4 |
| 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 RAB3GAP2_CNIH4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RAB3GAP2 | C0796037 | Martsolf syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | CNIH4 | C0036341 | Schizophrenia | 1 | PSYGENET |
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