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Fusion gene ID: 30452 |
FusionGeneSummary for RAPGEF6_SUSD4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RAPGEF6_SUSD4 | Fusion gene ID: 30452 | Hgene | Tgene | Gene symbol | RAPGEF6 | SUSD4 | Gene ID | 51735 | 55061 |
| Gene name | Rap guanine nucleotide exchange factor 6 | sushi domain containing 4 | |
| Synonyms | KIA001LB|PDZ-GEF2|PDZGEF2|RA-GEF-2|RAGEF2 | PRO222 | |
| Cytomap | 5q31.1 | 1q41 | |
| Type of gene | protein-coding | protein-coding | |
| Description | rap guanine nucleotide exchange factor 6PDZ domain containing guanine nucleotide exchange factor (GEF) 2PDZ domain-containing guanine nucleotide exchange factor 2PDZ domain-containing guanine nucleotide exchange factor IRap guanine nucleotide exchange | sushi domain-containing protein 4YHGM196testicular secretory protein Li 55 | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q8TEU7 | Q5VX71 | |
| Ensembl transtripts involved in fusion gene | ENST00000509018, ENST00000307984, ENST00000507093, ENST00000296859, ENST00000512052, ENST00000308008, ENST00000510071, ENST00000503398, | ENST00000343846, ENST00000366878, ENST00000484758, ENST00000494793, ENST00000478605, ENST00000454695, ENST00000344029, ENST00000366877, | |
| Fusion gene scores | * DoF score | 5 X 5 X 3=75 | 8 X 4 X 6=192 |
| # samples | 5 | 6 | |
| ** MAII score | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/192*10)=-1.67807190511264 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RAPGEF6 [Title/Abstract] AND SUSD4 [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 | SUSD4 | GO:0030449 | regulation of complement activation | 23482636 |
| 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 | LUAD | TCGA-78-7161-01A | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| * 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 | ENST00000509018 | ENST00000343846 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000509018 | ENST00000366878 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000509018 | ENST00000484758 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000509018 | ENST00000494793 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000509018 | ENST00000478605 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000509018 | ENST00000454695 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000509018 | ENST00000344029 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000509018 | ENST00000366877 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000307984 | ENST00000343846 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000307984 | ENST00000366878 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000307984 | ENST00000484758 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000307984 | ENST00000494793 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000307984 | ENST00000478605 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000307984 | ENST00000454695 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000307984 | ENST00000344029 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000307984 | ENST00000366877 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000507093 | ENST00000343846 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000507093 | ENST00000366878 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000507093 | ENST00000484758 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000507093 | ENST00000494793 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000507093 | ENST00000478605 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000507093 | ENST00000454695 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000507093 | ENST00000344029 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000507093 | ENST00000366877 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000296859 | ENST00000343846 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000296859 | ENST00000366878 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000296859 | ENST00000484758 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000296859 | ENST00000494793 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000296859 | ENST00000478605 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000296859 | ENST00000454695 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000296859 | ENST00000344029 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000296859 | ENST00000366877 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| intron-intron | ENST00000512052 | ENST00000343846 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| intron-intron | ENST00000512052 | ENST00000366878 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| intron-intron | ENST00000512052 | ENST00000484758 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| intron-intron | ENST00000512052 | ENST00000494793 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| intron-intron | ENST00000512052 | ENST00000478605 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| intron-intron | ENST00000512052 | ENST00000454695 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| intron-intron | ENST00000512052 | ENST00000344029 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| intron-intron | ENST00000512052 | ENST00000366877 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000308008 | ENST00000343846 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000308008 | ENST00000366878 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000308008 | ENST00000484758 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000308008 | ENST00000494793 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000308008 | ENST00000478605 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000308008 | ENST00000454695 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000308008 | ENST00000344029 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000308008 | ENST00000366877 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000510071 | ENST00000343846 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000510071 | ENST00000366878 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000510071 | ENST00000484758 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000510071 | ENST00000494793 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000510071 | ENST00000478605 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000510071 | ENST00000454695 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000510071 | ENST00000344029 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5CDS-intron | ENST00000510071 | ENST00000366877 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5UTR-intron | ENST00000503398 | ENST00000343846 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5UTR-intron | ENST00000503398 | ENST00000366878 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5UTR-intron | ENST00000503398 | ENST00000484758 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5UTR-intron | ENST00000503398 | ENST00000494793 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5UTR-intron | ENST00000503398 | ENST00000478605 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5UTR-intron | ENST00000503398 | ENST00000454695 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5UTR-intron | ENST00000503398 | ENST00000344029 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
| 5UTR-intron | ENST00000503398 | ENST00000366877 | RAPGEF6 | chr5 | 130928076 | - | SUSD4 | chr1 | 223408442 | - |
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FusionProtFeatures for RAPGEF6_SUSD4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RAPGEF6 | SUSD4 |
| Guanine nucleotide exchange factor (GEF) for Rap1A,Rap2A and M-Ras GTPases. Does not interact with cAMP.{ECO:0000269|PubMed:11524421, ECO:0000269|PubMed:12581858}. | Acts as complement inhibitor by disrupting the formationof the classical C3 convertase. Isoform 3 inhibits the classicalcomplement pathway, while membrane-bound isoform 1 inhibitsdeposition of C3b via both the classical and alternativecomplement pathways. {ECO:0000269|PubMed:23482636}. |
| 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 RAPGEF6_SUSD4 |
| 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 RAPGEF6_SUSD4 |
| 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 |
| RAPGEF6 | RAP1A, RAP2A, MRAS, YWHAB, NEDD4, ENO1, SHMT2, MOV10, NXF1, YAP1, CEP120, DYNLT1, XPO1, SSSCA1, SERPINB2, APBA3, AURKA, GRN, TRIM25, WWC1 | SUSD4 | CNTNAP3, NNT, ATP12A, FAT1, LRP5, FRAS1, ITGAV, HSD17B8, NID2, ENTPD6, ARSK, LAMA5, GFPT2, KDELC2, TXNDC11, ITGA8, DHPS, NAGLU, CCDC85C, PLXNA2, PLXNA1, ITGA7, KIAA1467, CTSF, ADAMTS2, NLGN2, CACNA2D1, PAM, FUT11, IL17RA, POGLUT1, TOR3A, CERCAM, ARSB, MOXD1, PCOLCE2, MAN2A2, WDR34, HAPLN3, TCTN1, TXNDC16, ECE1, TUBB3, TUBA4A, ARSA |
| - 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 RAPGEF6_SUSD4 |
| 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 RAPGEF6_SUSD4 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RAPGEF6 | C0036341 | Schizophrenia | 2 | PSYGENET |
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