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Fusion gene ID: 30146 |
FusionGeneSummary for RACGAP1_CERS5 |
Fusion gene summary |
Fusion gene information | Fusion gene name: RACGAP1_CERS5 | Fusion gene ID: 30146 | Hgene | Tgene | Gene symbol | RACGAP1 | CERS5 | Gene ID | 29127 | 253782 |
Gene name | Rac GTPase activating protein 1 | ceramide synthase 6 | |
Synonyms | CYK4|HsCYK-4|ID-GAP|MgcRacGAP | CERS5|LASS6 | |
Cytomap | 12q13.12 | 2q24.3 | |
Type of gene | protein-coding | protein-coding | |
Description | rac GTPase-activating protein 1male germ cell RacGapprotein CYK4 homolog | ceramide synthase 6LAG1 homolog, ceramide synthase 6longevity assurance homolog 6 | |
Modification date | 20180522 | 20180523 | |
UniProtAcc | Q9H0H5 | Q8N5B7 | |
Ensembl transtripts involved in fusion gene | ENST00000548961, ENST00000427314, ENST00000312377, ENST00000434422, ENST00000454520, ENST00000551016, ENST00000547905, ENST00000547061, | ENST00000317551, ENST00000422340, ENST00000547852, | |
Fusion gene scores | * DoF score | 4 X 3 X 3=36 | 4 X 4 X 3=48 |
# samples | 4 | 5 | |
** MAII score | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/48*10)=0.0588936890535686 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: RACGAP1 [Title/Abstract] AND CERS5 [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 | RACGAP1 | GO:0000281 | mitotic cytokinesis | 11085985|19468302 |
Hgene | RACGAP1 | GO:0008272 | sulfate transport | 11278976 |
Hgene | RACGAP1 | GO:0032467 | positive regulation of cytokinesis | 16103226 |
Hgene | RACGAP1 | GO:0051256 | mitotic spindle midzone assembly | 16103226 |
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 | HNSC | TCGA-BB-7862-01A | RACGAP1 | chr12 | 50419181 | - | CERS5 | chr12 | 50537840 | - |
* 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 | ENST00000548961 | ENST00000317551 | RACGAP1 | chr12 | 50419181 | - | CERS5 | chr12 | 50537840 | - |
intron-3CDS | ENST00000548961 | ENST00000422340 | RACGAP1 | chr12 | 50419181 | - | CERS5 | chr12 | 50537840 | - |
intron-intron | ENST00000548961 | ENST00000547852 | RACGAP1 | chr12 | 50419181 | - | CERS5 | chr12 | 50537840 | - |
5UTR-3CDS | ENST00000427314 | ENST00000317551 | RACGAP1 | chr12 | 50419181 | - | CERS5 | chr12 | 50537840 | - |
5UTR-3CDS | ENST00000427314 | ENST00000422340 | RACGAP1 | chr12 | 50419181 | - | CERS5 | chr12 | 50537840 | - |
5UTR-intron | ENST00000427314 | ENST00000547852 | RACGAP1 | chr12 | 50419181 | - | CERS5 | chr12 | 50537840 | - |
5UTR-3CDS | ENST00000312377 | ENST00000317551 | RACGAP1 | chr12 | 50419181 | - | CERS5 | chr12 | 50537840 | - |
5UTR-3CDS | ENST00000312377 | ENST00000422340 | RACGAP1 | chr12 | 50419181 | - | CERS5 | chr12 | 50537840 | - |
5UTR-intron | ENST00000312377 | ENST00000547852 | RACGAP1 | chr12 | 50419181 | - | CERS5 | chr12 | 50537840 | - |
5UTR-3CDS | ENST00000434422 | ENST00000317551 | RACGAP1 | chr12 | 50419181 | - | CERS5 | chr12 | 50537840 | - |
5UTR-3CDS | ENST00000434422 | ENST00000422340 | RACGAP1 | chr12 | 50419181 | - | CERS5 | chr12 | 50537840 | - |
5UTR-intron | ENST00000434422 | ENST00000547852 | RACGAP1 | chr12 | 50419181 | - | CERS5 | chr12 | 50537840 | - |
intron-3CDS | ENST00000454520 | ENST00000317551 | RACGAP1 | chr12 | 50419181 | - | CERS5 | chr12 | 50537840 | - |
intron-3CDS | ENST00000454520 | ENST00000422340 | RACGAP1 | chr12 | 50419181 | - | CERS5 | chr12 | 50537840 | - |
intron-intron | ENST00000454520 | ENST00000547852 | RACGAP1 | chr12 | 50419181 | - | CERS5 | chr12 | 50537840 | - |
intron-3CDS | ENST00000551016 | ENST00000317551 | RACGAP1 | chr12 | 50419181 | - | CERS5 | chr12 | 50537840 | - |
intron-3CDS | ENST00000551016 | ENST00000422340 | RACGAP1 | chr12 | 50419181 | - | CERS5 | chr12 | 50537840 | - |
intron-intron | ENST00000551016 | ENST00000547852 | RACGAP1 | chr12 | 50419181 | - | CERS5 | chr12 | 50537840 | - |
5UTR-3CDS | ENST00000547905 | ENST00000317551 | RACGAP1 | chr12 | 50419181 | - | CERS5 | chr12 | 50537840 | - |
5UTR-3CDS | ENST00000547905 | ENST00000422340 | RACGAP1 | chr12 | 50419181 | - | CERS5 | chr12 | 50537840 | - |
5UTR-intron | ENST00000547905 | ENST00000547852 | RACGAP1 | chr12 | 50419181 | - | CERS5 | chr12 | 50537840 | - |
intron-3CDS | ENST00000547061 | ENST00000317551 | RACGAP1 | chr12 | 50419181 | - | CERS5 | chr12 | 50537840 | - |
intron-3CDS | ENST00000547061 | ENST00000422340 | RACGAP1 | chr12 | 50419181 | - | CERS5 | chr12 | 50537840 | - |
intron-intron | ENST00000547061 | ENST00000547852 | RACGAP1 | chr12 | 50419181 | - | CERS5 | chr12 | 50537840 | - |
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FusionProtFeatures for RACGAP1_CERS5 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
RACGAP1 | CERS5 |
Component of the centralspindlin complex that serves asa microtubule-dependent and Rho-mediated signaling required forthe myosin contractile ring formation during the cell cyclecytokinesis. Required for proper attachment of the midbody to thecell membrane during cytokinesis. Plays key roles in controllingcell growth and differentiation of hematopoietic cells throughmechanisms other than regulating Rac GTPase activity. Alsoinvolved in the regulation of growth-related processes inadipocytes and myoblasts. May be involved in regulatingspermatogenesis and in the RACGAP1 pathway in neuronalproliferation. Shows strong GAP (GTPase activation) activitytowards CDC42 and RAC1 and less towards RHOA. Essential for theearly stages of embryogenesis. May play a role in regulatingcortical activity through RHOA during cytokinesis. May participatein the regulation of sulfate transport in male germ cells.{ECO:0000269|PubMed:10979956, ECO:0000269|PubMed:11085985,ECO:0000269|PubMed:11278976, ECO:0000269|PubMed:11782313,ECO:0000269|PubMed:14729465, ECO:0000269|PubMed:15642749,ECO:0000269|PubMed:16103226, ECO:0000269|PubMed:16129829,ECO:0000269|PubMed:16236794, ECO:0000269|PubMed:19468300,ECO:0000269|PubMed:19468302, ECO:0000269|PubMed:23235882,ECO:0000269|PubMed:9497316}. | Dihydroceramide synthase. Catalyzes the acylation ofsphingosine to form dihydroceramide, with high selectivity towardpalmitoyl-CoA as acyl donor compared to stearoyl-CoA. Inhibited byfumonisin B1 (By similarity). {ECO:0000250}. |
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 RACGAP1_CERS5 |
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 RACGAP1_CERS5 |
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 |
RACGAP1 | YWHAB, YWHAG, SFN, AURKB, RND2, GRB2, PRSS23, SLC26A8, VAV1, SH3KBP1, CUL1, IKBKG, PPP2R4, CDK1, ECT2, KIF23, MPG, TANK, MPRIP, TXNDC11, FZR1, MORF4L1, CUL7, PSMD1, LIG3, RFC1, ROCK2, SMNDC1, VRK1, IFI16, HIST1H2BG, RPGRIP1L, AKT2, ENTPD6, DLG3, HMGA1, HSD17B4, IPP, PCNT, TRIM27, PKP4, BCL7B, MED21, RAPGEF2, C2CD5, BAZ2A, ERC1, DAPK2, CD2AP, TCTN3, ANKRD11, CAPZA2, PPP1CB, SYNCRIP, SAMHD1, LDHD, MRPL35, RSRC1, STX18, RASIP1, SYBU, RABL6, MICAL3, TRAPPC11, SHCBP1, ACTL8, ARID5B, CHD6, STON2, PHLDB2, EOGT, WDR5, RCC2, SNW1, CDC5L, KLHL8, TNFRSF8, CSTF1, CHEK1, FAM98A, FOXA1, G3BP1 | CERS5 | P2RY12, LPAR1, VIPR2, HTR2C, IPPK, CD83, FPR2, C3AR1 |
- 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 RACGAP1_CERS5 |
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 RACGAP1_CERS5 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | RACGAP1 | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |