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Fusion gene ID: 30374 |
FusionGeneSummary for RAP1A_MAML1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RAP1A_MAML1 | Fusion gene ID: 30374 | Hgene | Tgene | Gene symbol | RAP1A | MAML1 | Gene ID | 5906 | 9794 |
| Gene name | RAP1A, member of RAS oncogene family | mastermind like transcriptional coactivator 1 | |
| Synonyms | C21KG|G-22K|KREV-1|KREV1|RAP1|SMGP21 | Mam-1|Mam1 | |
| Cytomap | 1p13.2 | 5q35.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ras-related protein Rap-1AGTP-binding protein smg p21ARas-related protein Krev-1 | mastermind-like protein 1mastermind homologmastermind-like 1 | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | P62834 | Q92585 | |
| Ensembl transtripts involved in fusion gene | ENST00000356415, ENST00000436150, ENST00000369709, ENST00000545460, ENST00000494982, | ENST00000292599, ENST00000503050, | |
| Fusion gene scores | * DoF score | 9 X 10 X 5=450 | 3 X 3 X 3=27 |
| # samples | 11 | 3 | |
| ** MAII score | log2(11/450*10)=-2.03242147769238 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: RAP1A [Title/Abstract] AND MAML1 [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 | RAP1A | GO:0015031 | protein transport | 17916086 |
| Hgene | RAP1A | GO:0071320 | cellular response to cAMP | 21840392 |
| Tgene | MAML1 | GO:0006468 | protein phosphorylation | 16510869 |
| Tgene | MAML1 | GO:0007219 | Notch signaling pathway | 11101851 |
| Tgene | MAML1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11101851|16510869 |
| 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 | SARC | TCGA-FX-A2QS-01A | RAP1A | chr1 | 112170185 | + | MAML1 | chr5 | 179198148 | + |
| * 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-3CDS | ENST00000356415 | ENST00000292599 | RAP1A | chr1 | 112170185 | + | MAML1 | chr5 | 179198148 | + |
| intron-3UTR | ENST00000356415 | ENST00000503050 | RAP1A | chr1 | 112170185 | + | MAML1 | chr5 | 179198148 | + |
| 5UTR-3CDS | ENST00000436150 | ENST00000292599 | RAP1A | chr1 | 112170185 | + | MAML1 | chr5 | 179198148 | + |
| 5UTR-3UTR | ENST00000436150 | ENST00000503050 | RAP1A | chr1 | 112170185 | + | MAML1 | chr5 | 179198148 | + |
| intron-3CDS | ENST00000369709 | ENST00000292599 | RAP1A | chr1 | 112170185 | + | MAML1 | chr5 | 179198148 | + |
| intron-3UTR | ENST00000369709 | ENST00000503050 | RAP1A | chr1 | 112170185 | + | MAML1 | chr5 | 179198148 | + |
| intron-3CDS | ENST00000545460 | ENST00000292599 | RAP1A | chr1 | 112170185 | + | MAML1 | chr5 | 179198148 | + |
| intron-3UTR | ENST00000545460 | ENST00000503050 | RAP1A | chr1 | 112170185 | + | MAML1 | chr5 | 179198148 | + |
| 3UTR-3CDS | ENST00000494982 | ENST00000292599 | RAP1A | chr1 | 112170185 | + | MAML1 | chr5 | 179198148 | + |
| 3UTR-3UTR | ENST00000494982 | ENST00000503050 | RAP1A | chr1 | 112170185 | + | MAML1 | chr5 | 179198148 | + |
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FusionProtFeatures for RAP1A_MAML1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RAP1A | MAML1 |
| Induces morphological reversion of a cell linetransformed by a Ras oncogene. Counteracts the mitogenic functionof Ras, at least partly because it can interact with Ras GAPs andRAF in a competitive manner. Together with ITGB1BP1, regulatesKRIT1 localization to microtubules and membranes. Plays a role innerve growth factor (NGF)-induced neurite outgrowth. Plays a rolein the regulation of embryonic blood vessel formation. Involved inthe establishment of basal endothelial barrier function. May beinvolved in the regulation of the vascular endothelial growthfactor receptor KDR expression at endothelial cell-cell junctions.{ECO:0000269|PubMed:17916086, ECO:0000269|PubMed:21840392}. | Acts as a transcriptional coactivator for NOTCHproteins. Has been shown to amplify NOTCH-induced transcription ofHES1. Enhances phosphorylation and proteolytic turnover of theNOTCH intracellular domain in the nucleus through interaction withCDK8. Binds to CREBBP/CBP which promotes nucleosome acetylation atNOTCH enhancers and activates transcription. Inducesphosphorylation and localization of CREBBP to nuclear foci. Playsa role in hematopoietic development by regulating NOTCH-mediatedlymphoid cell fate decisions. {ECO:0000269|PubMed:11101851,ECO:0000269|PubMed:11390662, ECO:0000269|PubMed:12050117,ECO:0000269|PubMed:15546612, ECO:0000269|PubMed:17317671}. |
| 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 RAP1A_MAML1 |
| 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 RAP1A_MAML1 |
| 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 |
| RAP1A | PDE6D, RAP1GDS1, KRIT1, RGL4, TSC2, GABARAPL2, ARHGEF1, RUNDC3A, MLLT4, RALGDS, RAPGEF3, RAPGEF4, RAPGEF5, MTOR, RAP1GAP, RHEB, RAF1, RGS14, BRAF, NTRK1, RAPGEF2, RAPGEF6, PPP2R1A, ELAVL1, RADIL, GNB1, CDC42, ILF3, DNAJC8, PON2, FEN1, HNRNPM, GNG12, CDK11B, RAB1A, DGKI, SIRT1, MTNR1A, GANAB, UNK, ARHGDIA, ECHS1, RAB5A, RAB5B, RAB5C, RAB7A, RAB8A, RAB8B, UQCRC2, BIN1, BMX, SMARCA2, TNFRSF10C, TCEB3, FADD, FAF1, FAS, HDAC1, HSPA4, IQGAP1, LIMA1, RASGRP4, DUSP19, DUSP22, DUSP9, KIFAP3, MRPL34, EXOC6, CPLX2, MGST3, TBRG4, DLST, SOD1, TRIM25, RAPGEF1 | MAML1 | EP300, CREBBP, NOTCH1, NOTCH2, NOTCH4, NOTCH3, MAML2, MAML3, PIAS1, HDAC9, RBPJ, PHF8, SMARCA4, PBRM1, CDK8, EWSR1, XPO1, HUWE1, RND3, ZMIZ1, RMND5A |
| - 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 RAP1A_MAML1 |
| 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 RAP1A_MAML1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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