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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 AKR1C4

check button Gene summary
Gene informationGene symbol

AKR1C4

Gene ID

1109

Gene namealdo-keto reductase family 1 member C4
Synonyms3-alpha-HSD|C11|CDR|CHDR|DD-4|DD4|HAKRA
Cytomap

10p15.1

Type of geneprotein-coding
Descriptionaldo-keto reductase family 1 member C43-alpha-HSD1chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4dihydrodiol dehydrogenase isozyme DD4type I 3-alpha-hydroxysteroid dehydrogenase
Modification date20180523
UniProtAcc

P17516

ContextPubMed: AKR1C4 [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
AKR1C4

GO:0071395

cellular response to jasmonic acid stimulus

19487289


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Exon skipping events across known transcript of Ensembl for AKR1C4 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 AKR1C4

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 AKR1C4

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_39293105246366:5246456:5247719:5247797:5248237:52483605247719:5247797ENSG00000198610.6ENST00000380448.1,ENST00000263126.1
exon_skip_39295105248237:5248360:5254578:5254688:5254956:52551225254578:5254688ENSG00000198610.6ENST00000380448.1,ENST00000263126.1

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

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Exon skipping events with PSIs in GTEx for AKR1C4

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_39293105246366:5246456:5247719:5247797:5248237:52483605247719:5247797ENSG00000198610.6ENST00000380448.1,ENST00000263126.1
exon_skip_39295105248237:5248360:5254578:5254688:5254956:52551225254578:5254688ENSG00000198610.6ENST00000380448.1,ENST00000263126.1

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 AKR1C4

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
ENST0000026312652545785254688Frame-shift
ENST0000038044852545785254688Frame-shift
ENST0000026312652477195247797In-frame
ENST0000038044852477195247797In-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
ENST0000026312652545785254688Frame-shift
ENST0000038044852545785254688Frame-shift
ENST0000026312652477195247797In-frame
ENST0000038044852477195247797In-frame

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Infer the effects of exon skipping event on protein functional features for AKR1C4

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
ENST00000263126121132352477195247797403480123149
ENST00000380448143132352477195247797623700123149

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
ENST00000263126121132352477195247797403480123149
ENST00000380448143132352477195247797623700123149

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
P17516123149124126Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2FVL
P17516123149124126Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2FVL
P175161231491323ChainID=PRO_0000124640;Note=Aldo-keto reductase family 1 member C4
P175161231491323ChainID=PRO_0000124640;Note=Aldo-keto reductase family 1 member C4
P17516123149144156HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2FVL
P17516123149144156HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2FVL
P17516123149135135Natural variantID=VAR_028240;Note=G->E;Dbxref=dbSNP:rs11253043
P17516123149135135Natural variantID=VAR_028240;Note=G->E;Dbxref=dbSNP:rs11253043
P17516123149145145Natural variantID=VAR_013290;Note=S->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10634139;Dbxref=dbSNP:rs3829125,PMID:10634139
P17516123149145145Natural variantID=VAR_013290;Note=S->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10634139;Dbxref=dbSNP:rs3829125,PMID:10634139


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
P17516123149124126Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2FVL
P17516123149124126Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2FVL
P175161231491323ChainID=PRO_0000124640;Note=Aldo-keto reductase family 1 member C4
P175161231491323ChainID=PRO_0000124640;Note=Aldo-keto reductase family 1 member C4
P17516123149144156HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2FVL
P17516123149144156HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2FVL
P17516123149135135Natural variantID=VAR_028240;Note=G->E;Dbxref=dbSNP:rs11253043
P17516123149135135Natural variantID=VAR_028240;Note=G->E;Dbxref=dbSNP:rs11253043
P17516123149145145Natural variantID=VAR_013290;Note=S->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10634139;Dbxref=dbSNP:rs3829125,PMID:10634139
P17516123149145145Natural variantID=VAR_013290;Note=S->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10634139;Dbxref=dbSNP:rs3829125,PMID:10634139


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SNVs in the skipped exons for AKR1C4

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_39293
5247720524779752477555247755Frame_Shift_DelA-p.G135fs
LUADTCGA-86-8056-01exon_skip_39293
5247720524779752477265247726Nonsense_MutationGTp.E126*
KICHTCGA-KL-8335-01exon_skip_39295
5254579525468852546755254675Nonsense_MutationCTp.R223*
KICHTCGA-KL-8335-01exon_skip_39295
5254579525468852546755254675Nonsense_MutationCTp.R223X

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
HEC108_ENDOMETRIUM5247720524779752477745247774Missense_MutationGAp.V142M
NH6_AUTONOMIC_GANGLIA5254579525468852545975254597Missense_MutationCTp.L197F
SBC1_LUNG5254579525468852545975254597Missense_MutationCTp.L197F
BC3C_URINARY_TRACT5254579525468852545975254597Missense_MutationCTp.L197F
CAKI2_KIDNEY5254579525468852545975254597Missense_MutationCTp.L197F
NCIH1385_LUNG5254579525468852545975254597Missense_MutationCTp.L197F
NCIH2172_LUNG5254579525468852545975254597Missense_MutationCTp.L197F
SNU308_BILIARY_TRACT5254579525468852545975254597Missense_MutationCTp.L197F
BC3C_URINARY_TRACT5254579525468852546085254608Missense_MutationCAp.S200R
MEWO_SKIN5247720524779752477935247793Nonsense_MutationGAp.W148*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AKR1C4

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 AKR1C4


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AKR1C4


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RelatedDrugs for AKR1C4

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 AKR1C4

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
AKR1C4C0005586Bipolar Disorder2CTD_human;PSYGENET
AKR1C4C0001973Alcoholic Intoxication, Chronic1PSYGENET
AKR1C4C1456784Paranoia1CTD_human