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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for RASA3

check button Gene summary
Gene informationGene symbol

RASA3

Gene ID

22821

Gene nameRAS p21 protein activator 3
SynonymsGAP1IP4BP|GAPIII
Cytomap

13q34

Type of geneprotein-coding
Descriptionras GTPase-activating protein 3GTPase activating protein IIIGTPase-activating protein 1 family, inositol 1,3,4,5-tetrakisphosphate-binding proteinIns(1,3,4,5)P4-binding proteinins P4-binding protein
Modification date20180519
UniProtAcc

Q14644

ContextPubMed: RASA3 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

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Exon skipping events across known transcript of Ensembl for RASA3 from UCSC genome browser

check buttonSkipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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Gene isoform structures and expression levels for RASA3

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for RASA3

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_10494913114748437:114748833:114751085:114751269:114757960:114758064114751085:114751269ENSG00000185989.9ENST00000389544.4,ENST00000334062.7
exon_skip_10495113114766301:114766408:114773008:114773082:114774862:114774940114773008:114773082ENSG00000185989.9ENST00000389544.4,ENST00000334062.7
exon_skip_10495213114783579:114783728:114784238:114784395:114786879:114786984114784238:114784395ENSG00000185989.9ENST00000542651.1,ENST00000389544.4,ENST00000334062.7
exon_skip_10495313114793322:114793403:114795286:114795363:114806475:114806570114795286:114795363ENSG00000185989.9ENST00000389544.4,ENST00000334062.7
exon_skip_10495513114795286:114795363:114806475:114806570:114817526:114817630114806475:114806570ENSG00000185989.9ENST00000389544.4,ENST00000334062.7
exon_skip_10495813114795286:114795363:114817526:114817630:114839194:114839312114817526:114817630ENSG00000185989.9ENST00000542651.1
exon_skip_10496113114806475:114806570:114817526:114817630:114839194:114839312114817526:114817630ENSG00000185989.9ENST00000389544.4,ENST00000334062.7
exon_skip_10496613114817526:114817630:114839194:114839312:114897909:114898027114839194:114839312ENSG00000185989.9ENST00000542651.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for RASA3

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_10494913114748437:114748833:114751085:114751269:114757960:114758064114751085:114751269ENSG00000185989.9ENST00000334062.7,ENST00000389544.4
exon_skip_10495113114766301:114766408:114773008:114773082:114774862:114774940114773008:114773082ENSG00000185989.9ENST00000334062.7,ENST00000389544.4
exon_skip_10495213114783579:114783728:114784238:114784395:114786879:114786984114784238:114784395ENSG00000185989.9ENST00000334062.7,ENST00000389544.4,ENST00000542651.1
exon_skip_10495313114793322:114793403:114795286:114795363:114806475:114806570114795286:114795363ENSG00000185989.9ENST00000334062.7,ENST00000389544.4
exon_skip_10495513114795286:114795363:114806475:114806570:114817526:114817630114806475:114806570ENSG00000185989.9ENST00000334062.7,ENST00000389544.4
exon_skip_10495813114795286:114795363:114817526:114817630:114839194:114839312114817526:114817630ENSG00000185989.9ENST00000542651.1
exon_skip_10496113114806475:114806570:114817526:114817630:114839194:114839312114817526:114817630ENSG00000185989.9ENST00000334062.7,ENST00000389544.4
exon_skip_10496613114817526:114817630:114839194:114839312:114897909:114898027114839194:114839312ENSG00000185989.9ENST00000542651.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for RASA3

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF

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Infer the effects of exon skipping event on protein functional features for RASA3

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Lost protein functional features of individual exon skipping events in TCGA.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature


check button Lost protein functional features of individual exon skipping events in GTEx.
UniProt acc.Start of exon skipping (AA)End of exon skipping (AA)Protein feature start (AA)Protein feature end (AA)Category of protein featureDescription of feature


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SNVs in the skipped exons for RASA3

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-G3-A3CJ-01exon_skip_104949
114751086114751269114751150114751150Frame_Shift_DelC-p.A789fs
STADTCGA-BR-4256-01exon_skip_104949
114751086114751269114751195114751195Frame_Shift_DelG-p.Q774fs
LIHCTCGA-G3-A3CJ-01exon_skip_104949
114751086114751269114751205114751205Frame_Shift_DelA-p.I770fs
LUADTCGA-55-1592-01exon_skip_104958
exon_skip_104961
114817527114817630114817623114817623Frame_Shift_DelA-p.Y61fs
LIHCTCGA-DD-A39Y-01exon_skip_104966
114839195114839312114839293114839293Frame_Shift_DelG-p.P25fs
HNSCTCGA-CV-7253-01exon_skip_104966
114839195114839312114839224114839225Frame_Shift_Ins-Ap.*48fs
HNSCTCGA-CV-7253-01exon_skip_104966
114839195114839312114839224114839225Frame_Shift_Ins-Ap.F48fs
LUADTCGA-95-7043-01exon_skip_104958
exon_skip_104961
114817527114817630114817632114817632Splice_SiteTAp.C58_splice
KIRCTCGA-G6-A8L6-01exon_skip_104966
114839195114839312114839194114839194Splice_SiteCT.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
NCIH345_LUNG114751086114751269114751117114751117Missense_MutationCGp.D800H
SNUC2A_LARGE_INTESTINE114751086114751269114751149114751149Missense_MutationGAp.A789V
SNUC2B_LARGE_INTESTINE114751086114751269114751149114751149Missense_MutationGAp.A789V
SISO_CERVIX114751086114751269114751162114751162Missense_MutationCTp.A785T
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE114751086114751269114751162114751162Missense_MutationCTp.A785T
SNU175_LARGE_INTESTINE114751086114751269114751198114751198Missense_MutationGAp.P773S
JEG3_PLACENTA114751086114751269114751202114751202Missense_MutationGTp.D771E
ACCS_URINARY_TRACT114773009114773082114773025114773025Missense_MutationTCp.I576V
KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE114773009114773082114773054114773054Missense_MutationCAp.R566I
MEWO_SKIN114773009114773082114773066114773066Missense_MutationGAp.S562L
SW684_SOFT_TISSUE114773009114773082114773066114773066Missense_MutationGAp.S562L
SNU1040_LARGE_INTESTINE114784239114784395114784249114784249Missense_MutationGAp.A311V
HEC59_ENDOMETRIUM114784239114784395114784276114784276Missense_MutationGTp.P302H
EN_ENDOMETRIUM114784239114784395114784282114784282Missense_MutationTCp.Y300C
SUPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE114784239114784395114784285114784285Missense_MutationTCp.Y299C
SNB75_CENTRAL_NERVOUS_SYSTEM114784239114784395114784303114784303Missense_MutationTGp.H293P
DU145_PROSTATE114784239114784395114784342114784342Missense_MutationATp.L280Q
TT_THYROID114784239114784395114784347114784347Missense_MutationGTp.D278E
JHUEM7_ENDOMETRIUM114784239114784395114784372114784372Missense_MutationTGp.N270T
SNUC4_LARGE_INTESTINE114806476114806570114806510114806510Missense_MutationTCp.Q113R
LS411N_LARGE_INTESTINE114817527114817630114817545114817545Missense_MutationGAp.R87W
SW684_SOFT_TISSUE114817527114817630114817545114817545Missense_MutationGAp.R87W
SW1271_LUNG114817527114817630114817580114817580Missense_MutationTAp.H75L
SNU81_LARGE_INTESTINE114817527114817630114817584114817584Missense_MutationGAp.R74C
A2058_SKIN114817527114817630114817595114817595Missense_MutationGAp.P70L
NCIH2126_LUNG114839195114839312114839282114839282Missense_MutationCAp.G29V
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE114839195114839312114839292114839292Missense_MutationAGp.S26P
LU134A_LUNG114806476114806570114806511114806512Nonsense_MutationGGATp.112_113FQ>L*
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE114795287114795363114795288114795288Splice_SiteGAp.R150C

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RASA3

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RASA3


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RASA3


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RelatedDrugs for RASA3

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for RASA3

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource