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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 ARHGAP22

check button Gene summary
Gene informationGene symbol

ARHGAP22

Gene ID

58504

Gene nameRho GTPase activating protein 22
SynonymsRhoGAP2|RhoGap22
Cytomap

10q11.22-q11.23

Type of geneprotein-coding
Descriptionrho GTPase-activating protein 22rho-type GTPase-activating protein 22
Modification date20180524
UniProtAcc

Q7Z5H3

ContextPubMed: ARHGAP22 [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 ARHGAP22 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 ARHGAP22

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 ARHGAP22

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_491661049654600:49654662:49658303:49659183:49661346:4966146849658303:49659183ENSG00000128805.10ENST00000417247.2,ENST00000249601.4,ENST00000417912.2,ENST00000374172.1,ENST00000435790.2,ENST00000374170.1,ENST00000460425.1
exon_skip_491691049661399:49661468:49662130:49662204:49663044:4966317749662130:49662204ENSG00000128805.10ENST00000515523.1,ENST00000417247.2,ENST00000249601.4,ENST00000417912.2,ENST00000374172.1,ENST00000435790.2,ENST00000471013.1
exon_skip_491701049661399:49661468:49662130:49662204:49663096:4966317749662130:49662204ENSG00000128805.10ENST00000460425.1
exon_skip_491731049663096:49663177:49667726:49667934:49674618:4967473949667726:49667934ENSG00000128805.10ENST00000489984.1
exon_skip_491741049663096:49663177:49667726:49667934:49687630:4968780749667726:49667934ENSG00000128805.10ENST00000417912.2,ENST00000374172.1
exon_skip_491751049663096:49663177:49667726:49667934:49687678:4968780749667726:49667934ENSG00000128805.10ENST00000417247.2,ENST00000249601.4,ENST00000435790.2,ENST00000460425.1
exon_skip_491831049667726:49667934:49687630:49687807:49763507:4976359549687630:49687807ENSG00000128805.10ENST00000417912.2,ENST00000374172.1
exon_skip_491841049667726:49667934:49687678:49687807:49732097:4973228149687678:49687807ENSG00000128805.10ENST00000374170.1
exon_skip_491851049667726:49667934:49687678:49687807:49763507:4976359549687678:49687807ENSG00000128805.10ENST00000249601.4,ENST00000435790.2,ENST00000460425.1
exon_skip_491861049687678:49687807:49763507:49763595:49790997:4979109249763507:49763595ENSG00000128805.10ENST00000249601.4,ENST00000417912.2,ENST00000435790.2,ENST00000460425.1
exon_skip_491871049763507:49763595:49790997:49791197:49812807:4981299749790997:49791197ENSG00000128805.10ENST00000417912.2
exon_skip_491881049763507:49763595:49790997:49791197:49860278:4986036649790997:49791197ENSG00000128805.10ENST00000435790.2,ENST00000460425.1

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

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Exon skipping events with PSIs in GTEx for ARHGAP22

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_491661049654600:49654662:49658303:49659183:49661346:4966146849658303:49659183ENSG00000128805.10ENST00000249601.4,ENST00000374170.1,ENST00000374172.1,ENST00000417247.2,ENST00000435790.2,ENST00000417912.2,ENST00000460425.1
exon_skip_491691049661399:49661468:49662130:49662204:49663044:4966317749662130:49662204ENSG00000128805.10ENST00000249601.4,ENST00000374172.1,ENST00000417247.2,ENST00000435790.2,ENST00000417912.2,ENST00000515523.1,ENST00000471013.1
exon_skip_491701049661399:49661468:49662130:49662204:49663096:4966317749662130:49662204ENSG00000128805.10ENST00000460425.1
exon_skip_491731049663096:49663177:49667726:49667934:49674618:4967473949667726:49667934ENSG00000128805.10ENST00000489984.1
exon_skip_491741049663096:49663177:49667726:49667934:49687630:4968780749667726:49667934ENSG00000128805.10ENST00000374172.1,ENST00000417912.2
exon_skip_491751049663096:49663177:49667726:49667934:49687678:4968780749667726:49667934ENSG00000128805.10ENST00000249601.4,ENST00000417247.2,ENST00000435790.2,ENST00000460425.1
exon_skip_491831049667726:49667934:49687630:49687807:49763507:4976359549687630:49687807ENSG00000128805.10ENST00000374172.1,ENST00000417912.2
exon_skip_491841049667726:49667934:49687678:49687807:49732097:4973228149687678:49687807ENSG00000128805.10ENST00000374170.1
exon_skip_491851049667726:49667934:49687678:49687807:49763507:4976359549687678:49687807ENSG00000128805.10ENST00000249601.4,ENST00000435790.2,ENST00000460425.1
exon_skip_491861049687678:49687807:49763507:49763595:49790997:4979109249763507:49763595ENSG00000128805.10ENST00000249601.4,ENST00000435790.2,ENST00000417912.2,ENST00000460425.1
exon_skip_491871049763507:49763595:49790997:49791197:49812807:4981299749790997:49791197ENSG00000128805.10ENST00000417912.2
exon_skip_491881049763507:49763595:49790997:49791197:49860278:4986036649790997:49791197ENSG00000128805.10ENST00000435790.2,ENST00000460425.1

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 ARHGAP22

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
ENST000002496014965830349659183Frame-shift
ENST000002496014966213049662204Frame-shift
ENST000002496014966772649667934Frame-shift
ENST000002496014976350749763595Frame-shift
ENST000002496014968767849687807In-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
ENST000002496014965830349659183Frame-shift
ENST000002496014966213049662204Frame-shift
ENST000002496014966772649667934Frame-shift
ENST000002496014976350749763595Frame-shift
ENST000002496014968767849687807In-frame

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Infer the effects of exon skipping event on protein functional features for ARHGAP22

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
ENST0000024960127686984968767849687807620748107150

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
ENST0000024960127686984968767849687807620748107150

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
Q7Z5H31071501329Alternative sequenceID=VSP_023703;Note=In isoform 4. MLSPKIRQARRARSKSLVMGEQSRSPGRMPCPHRLGPVLKAGWLKKQRSIMKNWQQRWFVLRGDQLFYYKDKDEIKPQGFISLQGTQVTELPPGPEDPGKHLFEISPGGAGEREKVPANPEALLLMASSQRDMEDWVQAIRRVIWAPLGGGIFGQRLEETVHHERKYGPRLAPLLVEQCVDFIRERGLTEEGLFRMPGQANLVRDLQDSFDCGEKPLFDSTT
Q7Z5H31071501107Alternative sequenceID=VSP_023704;Note=In isoform 3. MLSPKIRQARRARSKSLVMGEQSRSPGRMPCPHRLGPVLKAGWLKKQRSIMKNWQQRWFVLRGDQLFYYKDKDEIKPQGFISLQGTQVTELPPGPEDPGKHLFEISP->MPFWPIRCLKRSRRMPR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7Z5H3107150150150Alternative sequenceID=VSP_023705;Note=In isoform 2. G->GGTARRSHAHPLEPLPP;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z5H31071501698ChainID=PRO_0000280469;Note=Rho GTPase-activating protein 22
Q7Z5H310715037145DomainNote=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145


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
Q7Z5H31071501329Alternative sequenceID=VSP_023703;Note=In isoform 4. MLSPKIRQARRARSKSLVMGEQSRSPGRMPCPHRLGPVLKAGWLKKQRSIMKNWQQRWFVLRGDQLFYYKDKDEIKPQGFISLQGTQVTELPPGPEDPGKHLFEISPGGAGEREKVPANPEALLLMASSQRDMEDWVQAIRRVIWAPLGGGIFGQRLEETVHHERKYGPRLAPLLVEQCVDFIRERGLTEEGLFRMPGQANLVRDLQDSFDCGEKPLFDSTT
Q7Z5H31071501107Alternative sequenceID=VSP_023704;Note=In isoform 3. MLSPKIRQARRARSKSLVMGEQSRSPGRMPCPHRLGPVLKAGWLKKQRSIMKNWQQRWFVLRGDQLFYYKDKDEIKPQGFISLQGTQVTELPPGPEDPGKHLFEISP->MPFWPIRCLKRSRRMPR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q7Z5H3107150150150Alternative sequenceID=VSP_023705;Note=In isoform 2. G->GGTARRSHAHPLEPLPP;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q7Z5H31071501698ChainID=PRO_0000280469;Note=Rho GTPase-activating protein 22
Q7Z5H310715037145DomainNote=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145


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SNVs in the skipped exons for ARHGAP22

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.
ARHGAP22_LGG_exon_skip_49166_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LGGTCGA-DU-6542-01exon_skip_49166
49658304496591834965851449658514Frame_Shift_DelG-p.P553fs
UCECTCGA-D1-A177-01exon_skip_49166
49658304496591834965883849658838Frame_Shift_DelC-p.G461fs
LIHCTCGA-DD-A3A0-01exon_skip_49166
49658304496591834965887549658875Frame_Shift_DelG-p.R433fs
LIHCTCGA-G3-A3CJ-01exon_skip_49166
49658304496591834965888649658886Frame_Shift_DelT-p.K429fs
LIHCTCGA-DD-A1EG-01exon_skip_49166
49658304496591834965917549659175Frame_Shift_DelG-p.L333fs
LIHCTCGA-DD-A39Y-01exon_skip_49166
49658304496591834965917549659175Frame_Shift_DelG-p.L333fs
LIHCTCGA-G3-A3CJ-01exon_skip_49169
exon_skip_49170
49662131496622044966215849662158Frame_Shift_DelT-p.N280fs
LIHCTCGA-DD-A3A0-01exon_skip_49175
exon_skip_49174
exon_skip_49173
49667727496679344966777349667773Frame_Shift_DelC-p.D205fs
LUADTCGA-86-8281-01exon_skip_49184
exon_skip_49183
exon_skip_49185
49687631496878074968767049687670Frame_Shift_DelG-p.R30fs
BLCATCGA-BT-A42B-01exon_skip_49166
49658304496591834965832149658321Nonsense_MutationGCp.Y617*
THYMTCGA-3G-AB0O-01exon_skip_49184
exon_skip_49183
exon_skip_49185
49687631496878074968766349687663Nonsense_MutationGTp.S156X
THYMTCGA-XU-A933-01exon_skip_49187
exon_skip_49188
49790998497911974979110349791103Nonsense_MutationCTp.W49X

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
ARHGAP22_49654600_49654662_49658303_49659183_49661346_49661468_TCGA-DU-6542-01Sample: TCGA-DU-6542-01
Cancer type: LGG
ESID: exon_skip_49166
Skipped exon start: 49658304
Skipped exon end: 49659183
Mutation start: 49658514
Mutation end: 49658514
Mutation type: Frame_Shift_Del
Reference seq: G
Mutation seq: -
AAchange: p.P553fs
exon_skip_49166_LGG_TCGA-DU-6542-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
C33A_CERVIX49667727496679344966787849667878Frame_Shift_DelG-p.R170fs
SN12C_KIDNEY49667727496679344966792449667924Frame_Shift_DelC-p.G154fs
RKO_LARGE_INTESTINE49667727496679344966776349667764Frame_Shift_Ins-Cp.D208fs
NCIH322_LUNG49658304496591834965836149658361Missense_MutationGAp.T604I
KATOIII_STOMACH49658304496591834965839449658394Missense_MutationGAp.A593V
NCIH661_LUNG49658304496591834965853249658532Missense_MutationCAp.W547L
SNU175_LARGE_INTESTINE49658304496591834965857249658572Missense_MutationCTp.A534T
HCT15_LARGE_INTESTINE49658304496591834965857549658575Missense_MutationGAp.R533C
ESS1_ENDOMETRIUM49658304496591834965864449658644Missense_MutationTAp.M510L
A2058_SKIN49658304496591834965874249658742Missense_MutationCTp.G477E
NCIH1435_LUNG49658304496591834965877349658773Missense_MutationATp.S467T
GP2D_LARGE_INTESTINE49658304496591834965888349658883Missense_MutationGAp.S430F
GP5D_LARGE_INTESTINE49658304496591834965888349658883Missense_MutationGAp.S430F
HCT15_LARGE_INTESTINE49658304496591834965891949658919Missense_MutationGTp.P418H
NCIH727_LUNG49658304496591834965893249658932Missense_MutationTGp.S414R
HEY_OVARY49658304496591834965895549658955Missense_MutationCAp.R406I
HEYA8_OVARY49658304496591834965895549658955Missense_MutationCAp.R406I
TTC466_BONE49658304496591834965902249659022Missense_MutationCGp.G384R
SARC9371_BONE49658304496591834965910549659105Missense_MutationCTp.G356E
LCLC97TM1_LUNG49662131496622044966216549662165Missense_MutationGCp.Q278E
LS180_LARGE_INTESTINE49662131496622044966217649662176Missense_MutationCTp.S274N
PCI30_UPPER_AERODIGESTIVE_TRACT49667727496679344966775549667755Missense_MutationCTp.D211N
NCIN87_STOMACH49667727496679344966779649667796Missense_MutationGAp.P197L
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49667727496679344966785549667855Missense_MutationCAp.E177D
K2_SKIN49667727496679344966789149667892Missense_MutationCCTTp.R165Q
COLO794_SKIN49667727496679344966790249667902Missense_MutationGAp.H162Y
COLO800_SKIN49667727496679344966790249667902Missense_MutationGAp.H162Y
NCIH1793_LUNG49667727496679344966791949667919Missense_MutationCAp.R156L
SW1271_LUNG49687679496878074968769549687695Missense_MutationCGp.W145C
SW1271_LUNG49687631496878074968769549687695Missense_MutationCGp.W145C
SNU1040_LARGE_INTESTINE49687679496878074968770849687708Missense_MutationCTp.R141H
SNU1040_LARGE_INTESTINE49687631496878074968770849687708Missense_MutationCTp.R141H
CORL23_LUNG49763508497635954976354149763541Missense_MutationCTp.D97N
JIMT1_BREAST49763508497635954976355349763553Missense_MutationGAp.P93S
HCC2998_LARGE_INTESTINE49763508497635954976359149763591Missense_MutationACp.F80C
RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49790998497911974979102249791022Missense_MutationCAp.K70N
SW480_LARGE_INTESTINE49790998497911974979104449791044Missense_MutationCTp.G63E
SMZ1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49790998497911974979106249791062Missense_MutationCTp.R57H
NCIH1694_LUNG49790998497911974979106449791064Missense_MutationCAp.Q56H
NCIH1623_LUNG49790998497911974979110849791108Missense_MutationCAp.G42C
RKO_LARGE_INTESTINE49790998497911974979113149791131Missense_MutationCTp.R34K
NUGC3_STOMACH49790998497911974979116249791162Missense_MutationGAp.R24W
SNU1_STOMACH49790998497911974979116249791162Missense_MutationGAp.R24W
SNU719_STOMACH49790998497911974979119549791195Missense_MutationGAp.R13C
CW2_LARGE_INTESTINE49662131496622044966218349662183Nonsense_MutationGAp.Q272*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARHGAP22

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 ARHGAP22


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARHGAP22


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RelatedDrugs for ARHGAP22

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 ARHGAP22

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