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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 ARHGEF19

check button Gene summary
Gene informationGene symbol

ARHGEF19

Gene ID

128272

Gene nameRho guanine nucleotide exchange factor 19
SynonymsWGEF
Cytomap

1p36.13

Type of geneprotein-coding
Descriptionrho guanine nucleotide exchange factor 19Rho guanine nucleotide exchange factor (GEF) 19ephexin-2ephexin2weakly similar to Rho GEF
Modification date20180517
UniProtAcc

Q8IW93

ContextPubMed: ARHGEF19 [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 ARHGEF19 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 ARHGEF19

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 ARHGEF19

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_22027116524598:16525239:16525644:16525749:16528276:1652835316525644:16525749ENSG00000142632.12ENST00000478117.1,ENST00000270747.3
exon_skip_22037116528276:16528356:16528910:16529035:16531253:1653141416528910:16529035ENSG00000142632.12ENST00000478117.1
exon_skip_22038116528276:16528356:16528910:16529069:16531253:1653141416528910:16529069ENSG00000142632.12ENST00000270747.3
exon_skip_22041116528910:16529069:16531253:16531414:16531581:1653167116531253:16531414ENSG00000142632.12ENST00000270747.3
exon_skip_22042116531394:16531414:16531581:16531671:16531845:1653192016531581:16531671ENSG00000142632.12ENST00000449495.1,ENST00000478210.1,ENST00000478117.1,ENST00000270747.3
exon_skip_22050116531845:16531920:16532032:16532162:16532425:1653257816532032:16532162ENSG00000142632.12ENST00000449495.1,ENST00000478117.1,ENST00000270747.3
exon_skip_22054116531845:16531920:16532425:16532578:16532674:1653283516532425:16532578ENSG00000142632.12ENST00000478210.1
exon_skip_22059116534438:16534720:16535137:16535578:16538996:1653910416535137:16535578ENSG00000142632.12ENST00000270747.3

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

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Exon skipping events with PSIs in GTEx for ARHGEF19

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_22027116524598:16525239:16525644:16525749:16528276:1652835316525644:16525749ENSG00000142632.12ENST00000478117.1,ENST00000270747.3
exon_skip_22037116528276:16528356:16528910:16529035:16531253:1653141416528910:16529035ENSG00000142632.12ENST00000478117.1
exon_skip_22038116528276:16528356:16528910:16529069:16531253:1653141416528910:16529069ENSG00000142632.12ENST00000270747.3
exon_skip_22042116531394:16531414:16531581:16531671:16531845:1653192016531581:16531671ENSG00000142632.12ENST00000478117.1,ENST00000270747.3,ENST00000449495.1,ENST00000478210.1
exon_skip_22050116531845:16531920:16532032:16532162:16532425:1653257816532032:16532162ENSG00000142632.12ENST00000478117.1,ENST00000270747.3,ENST00000449495.1
exon_skip_22059116534438:16534720:16535137:16535578:16538996:1653910416535137:16535578ENSG00000142632.12ENST00000270747.3

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 ARHGEF19

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
ENST0000027074716535137165355783UTR-3CDS
ENST000002707471653125316531414Frame-shift
ENST000002707471653203216532162Frame-shift
ENST000002707471652564416525749In-frame
ENST000002707471652891016529069In-frame
ENST000002707471653158116531671In-frame

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
ENST0000027074716535137165355783UTR-3CDS
ENST000002707471653203216532162Frame-shift
ENST000002707471652564416525749In-frame
ENST000002707471652891016529069In-frame
ENST000002707471653158116531671In-frame

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Infer the effects of exon skipping event on protein functional features for ARHGEF19

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
ENST000002707473046802165315811653167117941883552582
ENST000002707473046802165289101652906920452203636688
ENST000002707473046802165256441652574922842388715750

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
ENST000002707473046802165315811653167117941883552582
ENST000002707473046802165289101652906920452203636688
ENST000002707473046802165256441652574922842388715750

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
Q8IW93552582484783Alternative sequenceID=VSP_024827;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8IW935525821802ChainID=PRO_0000285131;Note=Rho guanine nucleotide exchange factor 19
Q8IW93552582376560DomainNote=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062
Q8IW93636688484783Alternative sequenceID=VSP_024827;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8IW936366881802ChainID=PRO_0000285131;Note=Rho guanine nucleotide exchange factor 19
Q8IW93636688592704DomainNote=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145
Q8IW93715750484783Alternative sequenceID=VSP_024827;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8IW937157501802ChainID=PRO_0000285131;Note=Rho guanine nucleotide exchange factor 19
Q8IW93715750715776DomainNote=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192


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
Q8IW93552582484783Alternative sequenceID=VSP_024827;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8IW935525821802ChainID=PRO_0000285131;Note=Rho guanine nucleotide exchange factor 19
Q8IW93552582376560DomainNote=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00062
Q8IW93636688484783Alternative sequenceID=VSP_024827;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8IW936366881802ChainID=PRO_0000285131;Note=Rho guanine nucleotide exchange factor 19
Q8IW93636688592704DomainNote=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145
Q8IW93715750484783Alternative sequenceID=VSP_024827;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8IW937157501802ChainID=PRO_0000285131;Note=Rho guanine nucleotide exchange factor 19
Q8IW93715750715776DomainNote=SH3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00192


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SNVs in the skipped exons for ARHGEF19

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
PCPGTCGA-WB-A81Q-01exon_skip_22054
16532426165325781653256816532568Frame_Shift_DelC-p.D437fs
COADTCGA-G4-6588-01exon_skip_22059
16535138165355781653527116535271Frame_Shift_DelC-p.M94fs
LIHCTCGA-DD-A1EG-01exon_skip_22059
16535138165355781653527116535271Frame_Shift_DelC-p.G93fs
LIHCTCGA-DD-A3A0-01exon_skip_22059
16535138165355781653527116535271Frame_Shift_DelC-p.G93fs
LIHCTCGA-DD-A39Y-01exon_skip_22059
16535138165355781653533516535335Frame_Shift_DelG-p.P72fs
LIHCTCGA-DD-A3A0-01exon_skip_22059
16535138165355781653539516535395Frame_Shift_DelG-p.P52fs
LIHCTCGA-DD-A3A0-01exon_skip_22059
16535138165355781653539816535398Frame_Shift_DelA-p.F51fs
KIRPTCGA-2Z-A9J2-01exon_skip_22037
16528911165290351652900616529007Frame_Shift_Ins-CTCAGGTCCCGCACCTGCAGCTCAGCCATp.S657_L658delinsRWLSCRCGTX
KIRPTCGA-2Z-A9J2-01exon_skip_22038
16528911165290691652900616529007Frame_Shift_Ins-CTCAGGTCCCGCACCTGCAGCTCAGCCATp.S657_L658delinsRWLSCRCGTX
UCECTCGA-BS-A0U5-01exon_skip_22059
16535138165355781653518016535181Frame_Shift_Ins-CTGTGTGTGTp.P123fs
UCECTCGA-BS-A0U5-01exon_skip_22059
16535138165355781653518016535181Frame_Shift_Ins-CTGTGTGTGTp.Q123fs

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
SNU1_STOMACH16528911165290351652898516528985Frame_Shift_DelG-p.P664fs
SNU1_STOMACH16528911165290691652898516528985Frame_Shift_DelG-p.P664fs
SNUC2A_LARGE_INTESTINE16531254165314141653133216531332Frame_Shift_DelG-p.P610fs
SNUC2B_LARGE_INTESTINE16531254165314141653133216531332Frame_Shift_DelG-p.P610fs
DV90_LUNG16532033165321621653207816532081Frame_Shift_DelAAGG-p.FL511fs
OCIM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE16532033165321621653215016532150Frame_Shift_DelG-p.P488fs
LN428_CENTRAL_NERVOUS_SYSTEM16535138165355781653527116535271Frame_Shift_DelC-p.G93fs
SNUC2A_LARGE_INTESTINE16535138165355781653527116535271Frame_Shift_DelC-p.G93fs
SNUC5_LARGE_INTESTINE16535138165355781653527116535271Frame_Shift_DelC-p.G93fs
SNUC2B_LARGE_INTESTINE16535138165355781653527116535271Frame_Shift_DelC-p.G93fs
RDES_BONE16528911165290351652892016528920Missense_MutationGAp.A686V
RDES_BONE16528911165290691652892016528920Missense_MutationGAp.A686V
SCABER_URINARY_TRACT16528911165290351652892316528923Missense_MutationCTp.R685Q
SCABER_URINARY_TRACT16528911165290691652892316528923Missense_MutationCTp.R685Q
KM12_LARGE_INTESTINE16528911165290351652893916528939Missense_MutationGAp.H680Y
KM12_LARGE_INTESTINE16528911165290691652893916528939Missense_MutationGAp.H680Y
JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE16528911165290351652898116528981Missense_MutationGTp.H666N
JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE16528911165290691652898116528981Missense_MutationGTp.H666N
SW48_LARGE_INTESTINE16528911165290691652904716529047Missense_MutationCTp.V644I
OVMANA_OVARY16531254165314141653126016531260Missense_MutationCTp.R634Q
HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE16531254165314141653138516531385Missense_MutationCAp.W592C
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE16532033165321621653211016532110Missense_MutationCTp.V502M
PANC0203_PANCREAS16532426165325781653251716532517Missense_MutationCTp.V454M
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE16532426165325781653251716532517Missense_MutationCTp.V454M
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE16532426165325781653252616532526Missense_MutationCTp.V451M
BICR18_UPPER_AERODIGESTIVE_TRACT16535138165355781653515216535152Missense_MutationTCp.E133G
HCC1569_BREAST16535138165355781653520116535201Missense_MutationAGp.W117R
HSC2_UPPER_AERODIGESTIVE_TRACT16535138165355781653526716535267Missense_MutationGAp.R95W
PCI15A_UPPER_AERODIGESTIVE_TRACT16535138165355781653526716535267Missense_MutationGAp.R95W
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE16535138165355781653536216535362Missense_MutationCTp.S63N
SNU175_LARGE_INTESTINE16535138165355781653542616535426Missense_MutationGCp.P42A
SNUC5_LARGE_INTESTINE16535138165355781653549116535491Missense_MutationGAp.A20V
SH4_SKIN16535138165355781653549816535498Missense_MutationCTp.G18S
HCC2218_BREAST16535138165355781653531616535316Nonsense_MutationCTp.W78*
HCC2218_MATCHED_NORMAL_TISSUE16535138165355781653531616535316Nonsense_MutationCTp.W78*
NCIBL209_MATCHED_NORMAL_TISSUE16535138165355781653531616535316Nonsense_MutationCTp.W78*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARHGEF19

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 ARHGEF19


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARHGEF19


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RelatedDrugs for ARHGEF19

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 ARHGEF19

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