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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 ARIH2

check button Gene summary
Gene informationGene symbol

ARIH2

Gene ID

10425

Gene nameariadne RBR E3 ubiquitin protein ligase 2
SynonymsARI2|TRIAD1
Cytomap

3p21.31

Type of geneprotein-coding
DescriptionE3 ubiquitin-protein ligase ARIH2RING-type E3 ubiquitin transferase ARIH2all-trans retinoic acid inducible RING fingerariadne homolog 2protein ariadne-2 homolog
Modification date20180523
UniProtAcc

O95376

ContextPubMed: ARIH2 [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
ARIH2

GO:0000209

protein polyubiquitination

16118314|19340006

ARIH2

GO:0006511

ubiquitin-dependent protein catabolic process

16118314

ARIH2

GO:0016567

protein ubiquitination

24076655

ARIH2

GO:0048588

developmental cell growth

19340006

ARIH2

GO:0070534

protein K63-linked ubiquitination

19340006

ARIH2

GO:0070936

protein K48-linked ubiquitination

16118314|19340006

ARIH2

GO:0071425

hematopoietic stem cell proliferation

16118314|19340006


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Exon skipping events across known transcript of Ensembl for ARIH2 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 ARIH2

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 ARIH2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_373961348956327:48956431:48958912:48959009:48960180:4896024448958912:48959009ENSG00000177479.15ENST00000433170.1
exon_skip_373963348956327:48956431:48959781:48959901:48960180:4896024448959781:48959901ENSG00000177479.15ENST00000449729.1
exon_skip_373964348956327:48956431:48960180:48960244:48962150:4896227248960180:48960244ENSG00000177479.15ENST00000492077.1,ENST00000420814.1,ENST00000488963.1,ENST00000449376.1,ENST00000474936.2
exon_skip_373965348956327:48956431:48960180:48960244:48964894:4896515848960180:48960244ENSG00000177479.15ENST00000356401.4,ENST00000430423.1
exon_skip_373967348956327:48956431:48960180:48960244:48982568:4898261448960180:48960244ENSG00000177479.15ENST00000482427.1
exon_skip_373968348956327:48956431:48960180:48960244:48999044:4899907148960180:48960244ENSG00000177479.15ENST00000483333.1
exon_skip_373981348956327:48956431:48982568:48982614:48999044:4899907148982568:48982614ENSG00000177479.15ENST00000478224.1
exon_skip_373984348956327:48956431:48999044:48999112:49002351:4900241548999044:48999112ENSG00000177479.15ENST00000495761.1,ENST00000490095.1
exon_skip_373987348960197:48960244:48962150:48962272:48964894:4896515848962150:48962272ENSG00000177479.15ENST00000449376.1
exon_skip_373988348960197:48960244:48962150:48962272:48982568:4898261448962150:48962272ENSG00000177479.15ENST00000488963.1
exon_skip_373989348960197:48960244:48962150:48962272:48999044:4899907148962150:48962272ENSG00000177479.15ENST00000474936.2
exon_skip_373990348960197:48960244:48962150:48962404:48964894:4896515848962150:48962404ENSG00000177479.15ENST00000420814.1
exon_skip_373999348960197:48960244:48964894:48965246:48982568:4898261448964894:48965246ENSG00000177479.15ENST00000484999.1
exon_skip_374000348960197:48960244:48964894:48965246:48999044:4899907148964894:48965246ENSG00000177479.15ENST00000356401.4,ENST00000430423.1
exon_skip_374003348960180:48960244:48982414:48982614:48999044:4899907148982414:48982614ENSG00000177479.15ENST00000474618.1
exon_skip_374006348960197:48960244:48982568:48982614:48999044:4899907148982568:48982614ENSG00000177479.15ENST00000482427.1
exon_skip_374009348960197:48960244:48999044:48999112:49002351:4900241548999044:48999112ENSG00000177479.15ENST00000483333.1
exon_skip_374012348962150:48962272:48964894:48965246:48982568:4898261448964894:48965246ENSG00000177479.15ENST00000463204.1
exon_skip_374013348962150:48962272:48964894:48965246:48999044:4899907148964894:48965246ENSG00000177479.15ENST00000449376.1
exon_skip_374014348962150:48962272:48982568:48982614:48999044:4899907148982568:48982614ENSG00000177479.15ENST00000488963.1
exon_skip_374022348964894:48965246:48982568:48982614:48986498:4898652948982568:48982614ENSG00000177479.15ENST00000495507.1
exon_skip_374023348965211:48965246:48982568:48982614:48999044:4899907148982568:48982614ENSG00000177479.15ENST00000452385.1,ENST00000484999.1
exon_skip_374026348964894:48965246:48986498:48986529:48999044:4899907148986498:48986529ENSG00000177479.15ENST00000470296.1
exon_skip_374027348965211:48965246:48999044:48999112:49002351:4900241548999044:48999112ENSG00000177479.15ENST00000356401.4,ENST00000449376.1,ENST00000430423.1
exon_skip_374031348982568:48982614:48999044:48999112:49002351:4900241548999044:48999112ENSG00000177479.15ENST00000482427.1,ENST00000474618.1,ENST00000478224.1,ENST00000488963.1,ENST00000472640.1,ENST00000452385.1,ENST00000484999.1
exon_skip_374034348999044:48999112:49002351:49002415:49004557:4900458449002351:49002415ENSG00000177479.15ENST00000482427.1,ENST00000490095.1,ENST00000356401.4,ENST00000478224.1,ENST00000449376.1,ENST00000483333.1,ENST00000472640.1,ENST00000430423.1,ENST00000452385.1,ENST00000474936.2,ENST00000484999.1
exon_skip_374035349002351:49002415:49004557:49004708:49005966:4900601449004557:49004708ENSG00000177479.15ENST00000486316.1,ENST00000498314.1,ENST00000490095.1,ENST00000356401.4,ENST00000449376.1,ENST00000483333.1,ENST00000452385.1,ENST00000474936.2
exon_skip_374038349004638:49004708:49005493:49005610:49005966:4900601449005493:49005610ENSG00000177479.15ENST00000459976.2
exon_skip_374040349004638:49004708:49005966:49006088:49008027:4900807749005966:49006088ENSG00000177479.15ENST00000498314.1,ENST00000490095.1,ENST00000356401.4,ENST00000449376.1,ENST00000483333.1,ENST00000465217.1,ENST00000452385.1
exon_skip_374042349005966:49006088:49008027:49008137:49011131:4901124949008027:49008137ENSG00000177479.15ENST00000490095.1,ENST00000356401.4,ENST00000449376.1,ENST00000452385.1
exon_skip_374045349005966:49006088:49008027:49008274:49011131:4901124949008027:49008274ENSG00000177479.15ENST00000465217.1
exon_skip_374046349012249:49012300:49012390:49012412:49016914:4901704649012390:49012412ENSG00000177479.15ENST00000490095.1,ENST00000356401.4,ENST00000449376.1,ENST00000452385.1
exon_skip_374050349016914:49017066:49017785:49017929:49019092:4901916149017785:49017929ENSG00000177479.15ENST00000356401.4,ENST00000449376.1,ENST00000452385.1
exon_skip_374052349019092:49019161:49020328:49020412:49020631:4902085549020328:49020412ENSG00000177479.15ENST00000356401.4,ENST00000449376.1,ENST00000452385.1

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

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Exon skipping events with PSIs in GTEx for ARIH2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_373961348956327:48956431:48958912:48959009:48960180:4896024448958912:48959009ENSG00000177479.15ENST00000433170.1
exon_skip_373963348956327:48956431:48959781:48959901:48960180:4896024448959781:48959901ENSG00000177479.15ENST00000449729.1
exon_skip_373964348956327:48956431:48960180:48960244:48962150:4896227248960180:48960244ENSG00000177479.15ENST00000492077.1,ENST00000449376.1,ENST00000488963.1,ENST00000420814.1,ENST00000474936.2
exon_skip_373965348956327:48956431:48960180:48960244:48964894:4896515848960180:48960244ENSG00000177479.15ENST00000430423.1,ENST00000356401.4
exon_skip_373967348956327:48956431:48960180:48960244:48982568:4898261448960180:48960244ENSG00000177479.15ENST00000482427.1
exon_skip_373968348956327:48956431:48960180:48960244:48999044:4899907148960180:48960244ENSG00000177479.15ENST00000483333.1
exon_skip_373969348956327:48956431:48960180:48960244:49002351:4900241548960180:48960244ENSG00000177479.15ENST00000498314.1
exon_skip_373981348956327:48956431:48982568:48982614:48999044:4899907148982568:48982614ENSG00000177479.15ENST00000478224.1
exon_skip_373984348956327:48956431:48999044:48999112:49002351:4900241548999044:48999112ENSG00000177479.15ENST00000490095.1,ENST00000495761.1
exon_skip_373986348956327:48956431:49002351:49002415:49004557:4900458449002351:49002415ENSG00000177479.15ENST00000486316.1
exon_skip_373987348960197:48960244:48962150:48962272:48964894:4896515848962150:48962272ENSG00000177479.15ENST00000449376.1
exon_skip_373988348960197:48960244:48962150:48962272:48982568:4898261448962150:48962272ENSG00000177479.15ENST00000488963.1
exon_skip_373989348960197:48960244:48962150:48962272:48999044:4899907148962150:48962272ENSG00000177479.15ENST00000474936.2
exon_skip_373990348960197:48960244:48962150:48962404:48964894:4896515848962150:48962404ENSG00000177479.15ENST00000420814.1
exon_skip_373999348960197:48960244:48964894:48965246:48982568:4898261448964894:48965246ENSG00000177479.15ENST00000484999.1
exon_skip_374000348960197:48960244:48964894:48965246:48999044:4899907148964894:48965246ENSG00000177479.15ENST00000430423.1,ENST00000356401.4
exon_skip_374003348960180:48960244:48982414:48982614:48999044:4899907148982414:48982614ENSG00000177479.15ENST00000474618.1
exon_skip_374006348960197:48960244:48982568:48982614:48999044:4899907148982568:48982614ENSG00000177479.15ENST00000482427.1
exon_skip_374009348960197:48960244:48999044:48999112:49002351:4900241548999044:48999112ENSG00000177479.15ENST00000483333.1
exon_skip_374011348960197:48960244:49002351:49002415:49004557:4900458449002351:49002415ENSG00000177479.15ENST00000498314.1
exon_skip_374012348962150:48962272:48964894:48965246:48982568:4898261448964894:48965246ENSG00000177479.15ENST00000463204.1
exon_skip_374013348962150:48962272:48964894:48965246:48999044:4899907148964894:48965246ENSG00000177479.15ENST00000449376.1
exon_skip_374014348962150:48962272:48982568:48982614:48999044:4899907148982568:48982614ENSG00000177479.15ENST00000488963.1
exon_skip_374022348964894:48965246:48982568:48982614:48986498:4898652948982568:48982614ENSG00000177479.15ENST00000495507.1
exon_skip_374023348965211:48965246:48982568:48982614:48999044:4899907148982568:48982614ENSG00000177479.15ENST00000484999.1,ENST00000452385.1
exon_skip_374026348964894:48965246:48986498:48986529:48999044:4899907148986498:48986529ENSG00000177479.15ENST00000470296.1
exon_skip_374027348965211:48965246:48999044:48999112:49002351:4900241548999044:48999112ENSG00000177479.15ENST00000430423.1,ENST00000356401.4,ENST00000449376.1
exon_skip_374031348982568:48982614:48999044:48999112:49002351:4900241548999044:48999112ENSG00000177479.15ENST00000478224.1,ENST00000474618.1,ENST00000482427.1,ENST00000488963.1,ENST00000484999.1,ENST00000452385.1,ENST00000472640.1
exon_skip_374034348999044:48999112:49002351:49002415:49004557:4900458449002351:49002415ENSG00000177479.15ENST00000430423.1,ENST00000478224.1,ENST00000356401.4,ENST00000490095.1,ENST00000449376.1,ENST00000482427.1,ENST00000483333.1,ENST00000474936.2,ENST00000484999.1,ENST00000452385.1,ENST00000472640.1
exon_skip_374035349002351:49002415:49004557:49004708:49005966:4900601449004557:49004708ENSG00000177479.15ENST00000356401.4,ENST00000498314.1,ENST00000490095.1,ENST00000449376.1,ENST00000483333.1,ENST00000486316.1,ENST00000474936.2,ENST00000452385.1
exon_skip_374038349004638:49004708:49005493:49005610:49005966:4900601449005493:49005610ENSG00000177479.15ENST00000459976.2
exon_skip_374040349004638:49004708:49005966:49006088:49008027:4900807749005966:49006088ENSG00000177479.15ENST00000356401.4,ENST00000498314.1,ENST00000490095.1,ENST00000449376.1,ENST00000483333.1,ENST00000452385.1,ENST00000465217.1
exon_skip_374042349005966:49006088:49008027:49008137:49011131:4901124949008027:49008137ENSG00000177479.15ENST00000356401.4,ENST00000490095.1,ENST00000449376.1,ENST00000452385.1
exon_skip_374045349005966:49006088:49008027:49008274:49011131:4901124949008027:49008274ENSG00000177479.15ENST00000465217.1
exon_skip_374046349012249:49012300:49012390:49012412:49016914:4901704649012390:49012412ENSG00000177479.15ENST00000356401.4,ENST00000490095.1,ENST00000449376.1,ENST00000452385.1
exon_skip_374050349016914:49017066:49017785:49017929:49019092:4901916149017785:49017929ENSG00000177479.15ENST00000356401.4,ENST00000449376.1,ENST00000452385.1
exon_skip_374052349019092:49019161:49020328:49020412:49020631:4902085549020328:49020412ENSG00000177479.15ENST00000356401.4,ENST00000449376.1,ENST00000452385.1

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 ARIH2

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
ENST0000035640148964894489652465CDS-5UTR
ENST0000044937648964894489652465CDS-5UTR
ENST0000035640148960180489602445UTR-5UTR
ENST0000044937648960180489602445UTR-5UTR
ENST0000044937648962150489622725UTR-5UTR
ENST000003564014899904448999112Frame-shift
ENST000004493764899904448999112Frame-shift
ENST000003564014900235149002415Frame-shift
ENST000004493764900235149002415Frame-shift
ENST000003564014900455749004708Frame-shift
ENST000004493764900455749004708Frame-shift
ENST000003564014900596649006088Frame-shift
ENST000004493764900596649006088Frame-shift
ENST000003564014900802749008137Frame-shift
ENST000004493764900802749008137Frame-shift
ENST000003564014901239049012412Frame-shift
ENST000004493764901239049012412Frame-shift
ENST000003564014901778549017929In-frame
ENST000004493764901778549017929In-frame
ENST000003564014902032849020412In-frame
ENST000004493764902032849020412In-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
ENST0000035640148964894489652465CDS-5UTR
ENST0000044937648964894489652465CDS-5UTR
ENST0000035640148960180489602445UTR-5UTR
ENST0000044937648960180489602445UTR-5UTR
ENST0000044937648962150489622725UTR-5UTR
ENST000003564014899904448999112Frame-shift
ENST000004493764899904448999112Frame-shift
ENST000003564014900235149002415Frame-shift
ENST000004493764900235149002415Frame-shift
ENST000003564014900455749004708Frame-shift
ENST000004493764900455749004708Frame-shift
ENST000003564014900596649006088Frame-shift
ENST000004493764900596649006088Frame-shift
ENST000003564014900802749008137Frame-shift
ENST000004493764900802749008137Frame-shift
ENST000003564014901239049012412Frame-shift
ENST000004493764901239049012412Frame-shift
ENST000003564014901778549017929In-frame
ENST000004493764901778549017929In-frame
ENST000003564014902032849020412In-frame
ENST000004493764902032849020412In-frame

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Infer the effects of exon skipping event on protein functional features for ARIH2

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
ENST000003564014950493490177854901792914531596371419
ENST000004493762295493490177854901792915601703371419
ENST000003564014950493490203284902041216661749442470
ENST000004493762295493490203284902041217731856442470

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
ENST000003564014950493490177854901792914531596371419
ENST000004493762295493490177854901792915601703371419
ENST000003564014950493490203284902041216661749442470
ENST000004493762295493490203284902041217731856442470

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
O953763714191493ChainID=PRO_0000055755;Note=E3 ubiquitin-protein ligase ARIH2
O953763714191493ChainID=PRO_0000055755;Note=E3 ubiquitin-protein ligase ARIH2
O95376371419359493RegionNote=Ariadne domain;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9Y4X5
O95376371419359493RegionNote=Ariadne domain;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9Y4X5
O953764424701493ChainID=PRO_0000055755;Note=E3 ubiquitin-protein ligase ARIH2
O953764424701493ChainID=PRO_0000055755;Note=E3 ubiquitin-protein ligase ARIH2
O95376442470359493RegionNote=Ariadne domain;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9Y4X5
O95376442470359493RegionNote=Ariadne domain;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9Y4X5


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
O953763714191493ChainID=PRO_0000055755;Note=E3 ubiquitin-protein ligase ARIH2
O953763714191493ChainID=PRO_0000055755;Note=E3 ubiquitin-protein ligase ARIH2
O95376371419359493RegionNote=Ariadne domain;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9Y4X5
O95376371419359493RegionNote=Ariadne domain;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9Y4X5
O953764424701493ChainID=PRO_0000055755;Note=E3 ubiquitin-protein ligase ARIH2
O953764424701493ChainID=PRO_0000055755;Note=E3 ubiquitin-protein ligase ARIH2
O95376442470359493RegionNote=Ariadne domain;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9Y4X5
O95376442470359493RegionNote=Ariadne domain;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9Y4X5


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SNVs in the skipped exons for ARIH2

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.
ARIH2_LIHC_exon_skip_374035_psi_boxplot.png
boxplot
ARIH2_PRAD_exon_skip_374035_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
LIHCTCGA-DD-A3A1-01exon_skip_374000
exon_skip_374012
exon_skip_374013
exon_skip_373999
48964895489652464896513848965138Frame_Shift_DelG-p.Q49fs
STADTCGA-BR-8078-01exon_skip_374000
exon_skip_374012
exon_skip_374013
exon_skip_373999
48964895489652464896513848965138Frame_Shift_DelG-p.Q49fs
LIHCTCGA-DD-A1EG-01exon_skip_374035
49004558490047084900457349004573Frame_Shift_DelC-p.P136fs
LIHCTCGA-G3-A3CJ-01exon_skip_374035
49004558490047084900464849004648Frame_Shift_DelT-p.F160fs
BLCATCGA-GV-A3QK-01exon_skip_374040
49005967490060884900599849005998Frame_Shift_DelC-p.L190fs
LUADTCGA-69-7979-01exon_skip_374040
49005967490060884900606149006062Frame_Shift_DelGC-p.RR211fs
SKCMTCGA-EE-A2MI-06exon_skip_374042
49008028490081374900803149008031Frame_Shift_DelC-p.H222fs
SKCMTCGA-EE-A2MI-06exon_skip_374042
49008028490081374900803149008031Frame_Shift_DelC-p.S221fs
SKCMTCGA-EE-A2MI-06exon_skip_374045
49008028490082744900803149008031Frame_Shift_DelC-p.H222fs
SKCMTCGA-EE-A2MI-06exon_skip_374045
49008028490082744900803149008031Frame_Shift_DelC-p.S221fs
UCECTCGA-DI-A0WH-01exon_skip_374000
exon_skip_374012
exon_skip_374013
exon_skip_373999
48964895489652464896506148965062Frame_Shift_Ins-Ap.E24fs
UCECTCGA-DI-A0WH-01exon_skip_374000
exon_skip_374012
exon_skip_374013
exon_skip_373999
48964895489652464896506348965064Frame_Shift_Ins-AAp.E24fs
LUADTCGA-17-Z031-01exon_skip_374000
exon_skip_374012
exon_skip_374013
exon_skip_373999
48964895489652464896503448965034Nonsense_MutationGTp.E15*
CESCTCGA-C5-A1MQ-01exon_skip_374034
49002352490024154900235549002355Nonsense_MutationCGp.Y109*
PRADTCGA-HC-7820-01exon_skip_374035
49004558490047084900460949004609Nonsense_MutationCTp.R147*
BLCATCGA-UY-A9PE-01exon_skip_374040
49005967490060884900603849006038Nonsense_MutationGTp.E204*
STADTCGA-BR-8680-01exon_skip_374040
49005967490060884900604149006041Nonsense_MutationGTp.E205*
STADTCGA-BR-8680-01exon_skip_374040
49005967490060884900604149006041Nonsense_MutationGTp.E205X
BLCATCGA-MV-A51V-01exon_skip_374050
49017786490179294901785249017852Nonsense_MutationCTp.Q394*
STADTCGA-BR-4292-01exon_skip_374035
49004558490047084900471049004710Splice_SiteTC.
STADTCGA-BR-4292-01exon_skip_374035
49004558490047084900471049004710Splice_SiteTCp.G180_splice
KIRPTCGA-SX-A7SP-01exon_skip_374040
49005967490060884900596649005966Splice_SiteGT.
COADTCGA-G4-6302-01exon_skip_374050
49017786490179294901793049017930Splice_SiteGA.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
ARIH2_49005966_49006088_49008027_49008274_49011131_49011249_TCGA-EE-A2MI-06Sample: TCGA-EE-A2MI-06
Cancer type: SKCM
ESID: exon_skip_374042
Skipped exon start: 49008028
Skipped exon end: 49008137
Mutation start: 49008031
Mutation end: 49008031
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.S221fs
ARIH2_49005966_49006088_49008027_49008274_49011131_49011249_TCGA-EE-A2MI-06Sample: TCGA-EE-A2MI-06
Cancer type: SKCM
ESID: exon_skip_374045
Skipped exon start: 49008028
Skipped exon end: 49008274
Mutation start: 49008031
Mutation end: 49008031
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.S221fs
ARIH2_49005966_49006088_49008027_49008274_49011131_49011249_TCGA-EE-A2MI-06Sample: TCGA-EE-A2MI-06
Cancer type: SKCM
ESID: exon_skip_374042
Skipped exon start: 49008028
Skipped exon end: 49008137
Mutation start: 49008031
Mutation end: 49008031
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.H222fs
ARIH2_49005966_49006088_49008027_49008274_49011131_49011249_TCGA-EE-A2MI-06Sample: TCGA-EE-A2MI-06
Cancer type: SKCM
ESID: exon_skip_374045
Skipped exon start: 49008028
Skipped exon end: 49008274
Mutation start: 49008031
Mutation end: 49008031
Mutation type: Frame_Shift_Del
Reference seq: C
Mutation seq: -
AAchange: p.H222fs
exon_skip_374045_SKCM_TCGA-EE-A2MI-06.png
boxplot
ARIH2_49002351_49002415_49004557_49004708_49005966_49006014_TCGA-HC-7820-01Sample: TCGA-HC-7820-01
Cancer type: PRAD
ESID: exon_skip_374035
Skipped exon start: 49004558
Skipped exon end: 49004708
Mutation start: 49004609
Mutation end: 49004609
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: T
AAchange: p.R147*
exon_skip_374035_PRAD_TCGA-HC-7820-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
BICR18_UPPER_AERODIGESTIVE_TRACT48964895489652464896507148965071Frame_Shift_DelA-p.E29fs
BICR18_UPPER_AERODIGESTIVE_TRACT48964895489652464896507448965075Frame_Shift_DelAA-p.E29fs
F36P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE48964895489652464896505448965055In_Frame_Ins-GAGGAAp.22_22E>EEE
SNU410_PANCREAS48964895489652464896506348965064In_Frame_Ins-GAAp.25_25E>EE
AN3CA_ENDOMETRIUM48964895489652464896500448965004Missense_MutationATp.M5L
CESS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE48964895489652464896508148965081Missense_MutationCGp.D30E
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE48964895489652464896512248965122Missense_MutationGAp.S44N
HCC366_LUNG48964895489652464896519148965191Missense_MutationACp.K67T
HEMCSS_BONE48964895489652464896521448965214Missense_MutationGAp.E75K
HCT116_LARGE_INTESTINE49002352490024154900236349002363Missense_MutationAGp.N112S
BICR18_UPPER_AERODIGESTIVE_TRACT49004558490047084900456749004567Missense_MutationTGp.S133A
AN3CA_ENDOMETRIUM49004558490047084900458849004588Missense_MutationGAp.A140T
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49004558490047084900464849004648Missense_MutationTCp.F160L
NCIH1155_LUNG49004558490047084900466049004660Missense_MutationTGp.C164G
JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49005967490060884900603649006036Missense_MutationAGp.N203S
BICR18_UPPER_AERODIGESTIVE_TRACT49005967490060884900605249006052Missense_MutationGTp.E208D
DU145_PROSTATE49005967490060884900608349006083Missense_MutationGAp.V219M
BICR18_UPPER_AERODIGESTIVE_TRACT49008028490081374900803549008035Missense_MutationATp.Y223F
BICR18_UPPER_AERODIGESTIVE_TRACT49008028490082744900803549008035Missense_MutationATp.Y223F
K029AX_SKIN49008028490081374900806849008068Missense_MutationCTp.P234L
K029AX_SKIN49008028490082744900806849008068Missense_MutationCTp.P234L
MFE319_ENDOMETRIUM49008028490081374900807149008071Missense_MutationTCp.M235T
MFE319_ENDOMETRIUM49008028490082744900807149008071Missense_MutationTCp.M235T
MFE319_ENDOMETRIUM49008028490081374900808349008083Missense_MutationTCp.V239A
MFE319_ENDOMETRIUM49008028490082744900808349008083Missense_MutationTCp.V239A
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49008028490081374900810749008107Missense_MutationTCp.V247A
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49008028490082744900810749008107Missense_MutationTCp.V247A
HEC59_ENDOMETRIUM49008028490081374900812249008122Missense_MutationGAp.C252Y
HEC59_ENDOMETRIUM49008028490082744900812249008122Missense_MutationGAp.C252Y
BICR18_UPPER_AERODIGESTIVE_TRACT49008028490081374900812549008125Missense_MutationAGp.N253S
BICR18_UPPER_AERODIGESTIVE_TRACT49008028490082744900812549008125Missense_MutationAGp.N253S
FADU_UPPER_AERODIGESTIVE_TRACT49020329490204124902036549020365Missense_MutationGAp.E455K
EVSAT_BREAST49002352490024154900237149002371Nonsense_MutationCTp.Q115*
SNU1_STOMACH49004558490047084900466249004662Nonsense_MutationCAp.C164*
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49008028490081374900810349008103Nonsense_MutationCTp.R246*
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49008028490082744900810349008103Nonsense_MutationCTp.R246*
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE49017786490179294901790349017903Nonsense_MutationCTp.Q411*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARIH2

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 ARIH2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARIH2


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RelatedDrugs for ARIH2

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 ARIH2

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