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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 30146

FusionGeneSummary for RACGAP1_CERS5

check button Fusion gene summary
Fusion gene informationFusion gene name: RACGAP1_CERS5
Fusion gene ID: 30146
HgeneTgene
Gene symbol

RACGAP1

CERS5

Gene ID

29127

253782

Gene nameRac GTPase activating protein 1ceramide synthase 6
SynonymsCYK4|HsCYK-4|ID-GAP|MgcRacGAPCERS5|LASS6
Cytomap

12q13.12

2q24.3

Type of geneprotein-codingprotein-coding
Descriptionrac GTPase-activating protein 1male germ cell RacGapprotein CYK4 homologceramide synthase 6LAG1 homolog, ceramide synthase 6longevity assurance homolog 6
Modification date2018052220180523
UniProtAcc

Q9H0H5

Q8N5B7

Ensembl transtripts involved in fusion geneENST00000548961, ENST00000427314, 
ENST00000312377, ENST00000434422, 
ENST00000454520, ENST00000551016, 
ENST00000547905, ENST00000547061, 
ENST00000317551, ENST00000422340, 
ENST00000547852, 
Fusion gene scores* DoF score4 X 3 X 3=364 X 4 X 3=48
# samples 45
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneRACGAP1

GO:0000281

mitotic cytokinesis

11085985|19468302

HgeneRACGAP1

GO:0008272

sulfate transport

11278976

HgeneRACGAP1

GO:0032467

positive regulation of cytokinesis

16103226

HgeneRACGAP1

GO:0051256

mitotic spindle midzone assembly

16103226


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVHNSCTCGA-BB-7862-01ARACGAP1chr12

50419181

-CERS5chr12

50537840

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000548961ENST00000317551RACGAP1chr12

50419181

-CERS5chr12

50537840

-
intron-3CDSENST00000548961ENST00000422340RACGAP1chr12

50419181

-CERS5chr12

50537840

-
intron-intronENST00000548961ENST00000547852RACGAP1chr12

50419181

-CERS5chr12

50537840

-
5UTR-3CDSENST00000427314ENST00000317551RACGAP1chr12

50419181

-CERS5chr12

50537840

-
5UTR-3CDSENST00000427314ENST00000422340RACGAP1chr12

50419181

-CERS5chr12

50537840

-
5UTR-intronENST00000427314ENST00000547852RACGAP1chr12

50419181

-CERS5chr12

50537840

-
5UTR-3CDSENST00000312377ENST00000317551RACGAP1chr12

50419181

-CERS5chr12

50537840

-
5UTR-3CDSENST00000312377ENST00000422340RACGAP1chr12

50419181

-CERS5chr12

50537840

-
5UTR-intronENST00000312377ENST00000547852RACGAP1chr12

50419181

-CERS5chr12

50537840

-
5UTR-3CDSENST00000434422ENST00000317551RACGAP1chr12

50419181

-CERS5chr12

50537840

-
5UTR-3CDSENST00000434422ENST00000422340RACGAP1chr12

50419181

-CERS5chr12

50537840

-
5UTR-intronENST00000434422ENST00000547852RACGAP1chr12

50419181

-CERS5chr12

50537840

-
intron-3CDSENST00000454520ENST00000317551RACGAP1chr12

50419181

-CERS5chr12

50537840

-
intron-3CDSENST00000454520ENST00000422340RACGAP1chr12

50419181

-CERS5chr12

50537840

-
intron-intronENST00000454520ENST00000547852RACGAP1chr12

50419181

-CERS5chr12

50537840

-
intron-3CDSENST00000551016ENST00000317551RACGAP1chr12

50419181

-CERS5chr12

50537840

-
intron-3CDSENST00000551016ENST00000422340RACGAP1chr12

50419181

-CERS5chr12

50537840

-
intron-intronENST00000551016ENST00000547852RACGAP1chr12

50419181

-CERS5chr12

50537840

-
5UTR-3CDSENST00000547905ENST00000317551RACGAP1chr12

50419181

-CERS5chr12

50537840

-
5UTR-3CDSENST00000547905ENST00000422340RACGAP1chr12

50419181

-CERS5chr12

50537840

-
5UTR-intronENST00000547905ENST00000547852RACGAP1chr12

50419181

-CERS5chr12

50537840

-
intron-3CDSENST00000547061ENST00000317551RACGAP1chr12

50419181

-CERS5chr12

50537840

-
intron-3CDSENST00000547061ENST00000422340RACGAP1chr12

50419181

-CERS5chr12

50537840

-
intron-intronENST00000547061ENST00000547852RACGAP1chr12

50419181

-CERS5chr12

50537840

-

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FusionProtFeatures for RACGAP1_CERS5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RACGAP1

Q9H0H5

CERS5

Q8N5B7

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for RACGAP1_CERS5


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
RACGAP1YWHAB, 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, G3BP1CERS5P2RY12, LPAR1, VIPR2, HTR2C, IPPK, CD83, FPR2, C3AR1


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for RACGAP1_CERS5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for RACGAP1_CERS5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRACGAP1C0032460Polycystic Ovary Syndrome1CTD_human