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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 ACOX3

check button Gene summary
Gene informationGene symbol

ACOX3

Gene ID

8310

Gene nameacyl-CoA oxidase 3, pristanoyl
Synonyms-
Cytomap

4p16.1

Type of geneprotein-coding
Descriptionperoxisomal acyl-coenzyme A oxidase 3BRCACoxacyl-Coenzyme A oxidase 3, pristanoylbranched-chain acyl-CoA oxidasepristanoyl-CoA oxidase
Modification date20180523
UniProtAcc

O15254

ContextPubMed: ACOX3 [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 ACOX3 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 ACOX3

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 ACOX3

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_42838648368687:8368807:8372634:8372721:8375287:83753558372634:8372721ENSG00000087008.11ENST00000512411.1,ENST00000503233.1,ENST00000356406.5,ENST00000515797.1
exon_skip_42838748368687:8368807:8372634:8372721:8376704:83768798372634:8372721ENSG00000087008.11ENST00000413009.2
exon_skip_42839148372634:8372721:8375287:8375355:8376704:83768798375287:8375355ENSG00000087008.11ENST00000503233.1,ENST00000356406.5
exon_skip_42839248372634:8372721:8376704:8376879:8383218:83833348376704:8376879ENSG00000087008.11ENST00000413009.2
exon_skip_42840148383280:8383334:8390899:8391013:8391338:83914618390899:8391013ENSG00000087008.11ENST00000503233.1,ENST00000508302.1,ENST00000413009.2,ENST00000356406.5,ENST00000510365.1
exon_skip_42840448391338:8391461:8394059:8394180:8396346:83964698394059:8394180ENSG00000087008.11ENST00000503233.1,ENST00000508302.1,ENST00000413009.2,ENST00000356406.5,ENST00000510365.1
exon_skip_42840548398663:8398846:8401282:8401379:8407681:84077708401282:8401379ENSG00000087008.11ENST00000503233.1,ENST00000413009.2,ENST00000356406.5,ENST00000510365.1
exon_skip_42840648401282:8401379:8407681:8407770:8411938:84120828407681:8407770ENSG00000087008.11ENST00000503233.1,ENST00000413009.2,ENST00000356406.5,ENST00000510365.1
exon_skip_42841048407681:8407770:8411938:8412082:8416018:84161088411938:8412082ENSG00000087008.11ENST00000503233.1,ENST00000413009.2,ENST00000356406.5,ENST00000510365.1
exon_skip_42841348412008:8412082:8416018:8416108:8416580:84166558416018:8416108ENSG00000087008.11ENST00000503233.1,ENST00000413009.2,ENST00000356406.5,ENST00000510365.1,ENST00000514423.1
exon_skip_42841448416580:8416655:8417492:8417726:8418104:84182628417492:8417726ENSG00000087008.11ENST00000503233.1,ENST00000413009.2,ENST00000356406.5
exon_skip_42841648417492:8417726:8418104:8418262:8430077:84301888418104:8418262ENSG00000087008.11ENST00000503233.1
exon_skip_42841748417492:8417726:8418104:8418262:8442374:84424388418104:8418262ENSG00000087008.11ENST00000413009.2

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

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Exon skipping events with PSIs in GTEx for ACOX3

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_42838648368687:8368807:8372634:8372721:8375287:83753558372634:8372721ENSG00000087008.11ENST00000356406.5,ENST00000512411.1,ENST00000515797.1,ENST00000503233.1
exon_skip_42838748368687:8368807:8372634:8372721:8376704:83768798372634:8372721ENSG00000087008.11ENST00000413009.2
exon_skip_42839148372634:8372721:8375287:8375355:8376704:83768798375287:8375355ENSG00000087008.11ENST00000356406.5,ENST00000503233.1
exon_skip_42839248372634:8372721:8376704:8376879:8383218:83833348376704:8376879ENSG00000087008.11ENST00000413009.2
exon_skip_42840148383280:8383334:8390899:8391013:8391338:83914618390899:8391013ENSG00000087008.11ENST00000356406.5,ENST00000413009.2,ENST00000503233.1,ENST00000510365.1,ENST00000508302.1
exon_skip_42840448391338:8391461:8394059:8394180:8396346:83964698394059:8394180ENSG00000087008.11ENST00000356406.5,ENST00000413009.2,ENST00000503233.1,ENST00000510365.1,ENST00000508302.1
exon_skip_42840548398663:8398846:8401282:8401379:8407681:84077708401282:8401379ENSG00000087008.11ENST00000356406.5,ENST00000413009.2,ENST00000503233.1,ENST00000510365.1
exon_skip_42840648401282:8401379:8407681:8407770:8411938:84120828407681:8407770ENSG00000087008.11ENST00000356406.5,ENST00000413009.2,ENST00000503233.1,ENST00000510365.1
exon_skip_42841048407681:8407770:8411938:8412082:8416018:84161088411938:8412082ENSG00000087008.11ENST00000356406.5,ENST00000413009.2,ENST00000503233.1,ENST00000510365.1
exon_skip_42841348412008:8412082:8416018:8416108:8416580:84166558416018:8416108ENSG00000087008.11ENST00000356406.5,ENST00000413009.2,ENST00000503233.1,ENST00000510365.1,ENST00000514423.1
exon_skip_42841448416580:8416655:8417492:8417726:8418104:84182628417492:8417726ENSG00000087008.11ENST00000356406.5,ENST00000413009.2,ENST00000503233.1
exon_skip_42841648417492:8417726:8418104:8418262:8430077:84301888418104:8418262ENSG00000087008.11ENST00000503233.1
exon_skip_42841748417492:8417726:8418104:8418262:8442374:84424388418104:8418262ENSG00000087008.11ENST00000413009.2

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 ACOX3

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
ENST00000503233841810484182623UTR-3CDS
ENST0000035640683752878375355Frame-shift
ENST0000050323383752878375355Frame-shift
ENST0000035640683940598394180Frame-shift
ENST0000050323383940598394180Frame-shift
ENST0000035640684012828401379Frame-shift
ENST0000050323384012828401379Frame-shift
ENST0000035640684076818407770Frame-shift
ENST0000050323384076818407770Frame-shift
ENST0000035640683726348372721In-frame
ENST0000050323383726348372721In-frame
ENST0000035640683908998391013In-frame
ENST0000050323383908998391013In-frame
ENST0000035640684119388412082In-frame
ENST0000050323384119388412082In-frame
ENST0000035640684160188416108In-frame
ENST0000050323384160188416108In-frame
ENST0000035640684174928417726In-frame
ENST0000050323384174928417726In-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
ENST00000503233841810484182623UTR-3CDS
ENST0000035640683752878375355Frame-shift
ENST0000050323383752878375355Frame-shift
ENST0000035640683940598394180Frame-shift
ENST0000050323383940598394180Frame-shift
ENST0000035640684012828401379Frame-shift
ENST0000050323384012828401379Frame-shift
ENST0000035640684076818407770Frame-shift
ENST0000050323384076818407770Frame-shift
ENST0000035640683726348372721In-frame
ENST0000050323383726348372721In-frame
ENST0000035640683908998391013In-frame
ENST0000050323383908998391013In-frame
ENST0000035640684119388412082In-frame
ENST0000050323384119388412082In-frame
ENST0000035640684160188416108In-frame
ENST0000050323384160188416108In-frame
ENST0000035640684174928417726In-frame
ENST0000050323384174928417726In-frame

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Infer the effects of exon skipping event on protein functional features for ACOX3

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
ENST0000035640628777008417492841772622345648126
ENST0000050323322707008417492841772629552848126
ENST00000356406287770084160188416108532621151181
ENST00000503233227070084160188416108604693151181
ENST00000356406287770084119388412082622765181229
ENST00000503233227070084119388412082694837181229
ENST0000035640628777008390899839101315021615474512
ENST0000050323322707008390899839101315741687474512
ENST0000035640628777008372634837272119752061632661
ENST0000050323322707008372634837272120472133632661

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
ENST0000035640628777008417492841772622345648126
ENST0000050323322707008417492841772629552848126
ENST00000356406287770084160188416108532621151181
ENST00000503233227070084160188416108604693151181
ENST00000356406287770084119388412082622765181229
ENST00000503233227070084119388412082694837181229
ENST0000035640628777008390899839101315021615474512
ENST0000050323322707008390899839101315741687474512
ENST0000035640628777008372634837272119752061632661
ENST0000050323322707008372634837272120472133632661

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
O15254481262700ChainID=PRO_0000204685;Note=Peroxisomal acyl-coenzyme A oxidase 3
O15254481262700ChainID=PRO_0000204685;Note=Peroxisomal acyl-coenzyme A oxidase 3
O15254481269595Sequence conflictNote=D->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
O15254481269595Sequence conflictNote=D->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
O152541511812700ChainID=PRO_0000204685;Note=Peroxisomal acyl-coenzyme A oxidase 3
O152541511812700ChainID=PRO_0000204685;Note=Peroxisomal acyl-coenzyme A oxidase 3
O152541812292700ChainID=PRO_0000204685;Note=Peroxisomal acyl-coenzyme A oxidase 3
O152541812292700ChainID=PRO_0000204685;Note=Peroxisomal acyl-coenzyme A oxidase 3
O152544745122700ChainID=PRO_0000204685;Note=Peroxisomal acyl-coenzyme A oxidase 3
O152544745122700ChainID=PRO_0000204685;Note=Peroxisomal acyl-coenzyme A oxidase 3
O15254474512497497Natural variantID=VAR_030803;Note=D->N;Dbxref=dbSNP:rs13434465
O15254474512497497Natural variantID=VAR_030803;Note=D->N;Dbxref=dbSNP:rs13434465
O15254632661625700Alternative sequenceID=VSP_023356;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O15254632661625700Alternative sequenceID=VSP_023356;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O152546326612700ChainID=PRO_0000204685;Note=Peroxisomal acyl-coenzyme A oxidase 3
O152546326612700ChainID=PRO_0000204685;Note=Peroxisomal acyl-coenzyme A oxidase 3


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
O15254481262700ChainID=PRO_0000204685;Note=Peroxisomal acyl-coenzyme A oxidase 3
O15254481262700ChainID=PRO_0000204685;Note=Peroxisomal acyl-coenzyme A oxidase 3
O15254481269595Sequence conflictNote=D->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
O15254481269595Sequence conflictNote=D->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
O152541511812700ChainID=PRO_0000204685;Note=Peroxisomal acyl-coenzyme A oxidase 3
O152541511812700ChainID=PRO_0000204685;Note=Peroxisomal acyl-coenzyme A oxidase 3
O152541812292700ChainID=PRO_0000204685;Note=Peroxisomal acyl-coenzyme A oxidase 3
O152541812292700ChainID=PRO_0000204685;Note=Peroxisomal acyl-coenzyme A oxidase 3
O152544745122700ChainID=PRO_0000204685;Note=Peroxisomal acyl-coenzyme A oxidase 3
O152544745122700ChainID=PRO_0000204685;Note=Peroxisomal acyl-coenzyme A oxidase 3
O15254474512497497Natural variantID=VAR_030803;Note=D->N;Dbxref=dbSNP:rs13434465
O15254474512497497Natural variantID=VAR_030803;Note=D->N;Dbxref=dbSNP:rs13434465
O15254632661625700Alternative sequenceID=VSP_023356;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O15254632661625700Alternative sequenceID=VSP_023356;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O152546326612700ChainID=PRO_0000204685;Note=Peroxisomal acyl-coenzyme A oxidase 3
O152546326612700ChainID=PRO_0000204685;Note=Peroxisomal acyl-coenzyme A oxidase 3


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SNVs in the skipped exons for ACOX3

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
HNSCTCGA-CR-5250-01exon_skip_428392
8376705837687983768588376858Frame_Shift_DelC-p.A559fs
LIHCTCGA-DD-A1EG-018390900839101383909228390922Frame_Shift_DelA-p.V505fs
LIHCTCGA-G3-A3CJ-018390900839101383909378390937Frame_Shift_DelA-p.F500fs
LIHCTCGA-G3-A3CJ-018390900839101383909518390951Frame_Shift_DelG-p.L496fs
LIHCTCGA-DD-A1EG-01exon_skip_428405
8401283840137984013778401377Frame_Shift_DelA-p.F260fs
STADTCGA-BR-8382-01exon_skip_428406
8407682840777084077088407708Frame_Shift_DelT-p.L251fs
LIHCTCGA-DD-A3A0-01exon_skip_428410
8411939841208284120378412037Frame_Shift_DelC-p.V197fs
LIHCTCGA-BC-A3KG-01exon_skip_428410
8411939841208284120638412063Frame_Shift_DelG-p.P188fs
LUADTCGA-55-7570-01exon_skip_428414
8417493841772684177008417700Frame_Shift_DelA-p.N57fs
STADTCGA-BR-8078-01exon_skip_428410
8411939841208284120628412063Frame_Shift_Ins-Gp.P188fs
STADTCGA-BR-8078-01exon_skip_428410
8411939841208284120638412064Frame_Shift_Ins-Gp.P188fs
UCECTCGA-B5-A0JY-01exon_skip_428414
8417493841772684176308417630Nonsense_MutationGAp.R81*

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
RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE8372635837272183726488372648Missense_MutationCTp.R657K
PC3_PROSTATE8372635837272183726918372691Missense_MutationCTp.V643M
PC3JPC3_LUNG8372635837272183726918372691Missense_MutationCTp.V643M
SNUC2A_LARGE_INTESTINE8376705837687983767388376738Missense_MutationATp.S599T
BICR56_UPPER_AERODIGESTIVE_TRACT8376705837687983767648376764Missense_MutationCTp.R590Q
MDAMB435S_SKIN8376705837687983768228376822Missense_MutationAGp.F571L
HEC1A_ENDOMETRIUM8390900839101383909028390902Missense_MutationGAp.A512V
LB1047RCC_KIDNEY8394060839418083940788394078Missense_MutationCTp.G428R
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM8394060839418083940868394086Missense_MutationGAp.A425V
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE8394060839418083941568394156Missense_MutationCTp.A402T
HT1197_URINARY_TRACT8394060839418083941568394156Missense_MutationCTp.A402T
KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE8401283840137984013058401305Missense_MutationCTp.G284D
NCIH2141_LUNG8401283840137984013278401327Missense_MutationTAp.M277L
CP67MEL_SKIN8401283840137984013488401348Missense_MutationGAp.R270C
NCIH1573_LUNG8407682840777084076998407699Missense_MutationCGp.Q253H
SNUC5_LARGE_INTESTINE8407682840777084077278407727Missense_MutationAGp.V244A
PACADD188_PANCREAS8411939841208284119988411998Missense_MutationACp.F210V
KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE8416019841610884160458416045Missense_MutationTCp.T173A
KMRC1_KIDNEY8416019841610884160458416045Missense_MutationTCp.T173A
NCIH1975_LUNG8416019841610884160848416084Missense_MutationCTp.E160K
COLO684_ENDOMETRIUM8417493841772684174988417498Missense_MutationTCp.S125G
HS445_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE8417493841772684175258417525Missense_MutationAGp.S116P
EN_ENDOMETRIUM8417493841772684175338417533Missense_MutationTCp.Y113C
HEC108_ENDOMETRIUM8417493841772684176508417650Missense_MutationTCp.Y74C
IALM_LUNG8417493841772684176698417669Missense_MutationCAp.D68Y
RERFLCKJ_LUNG8417493841772684176838417683Missense_MutationCAp.R63L
SW1573_LUNG8418105841826284181078418107Missense_MutationTGp.K48Q
LCLC97TM1_LUNG8418105841826284181288418128Missense_MutationCTp.G41R
SNU1040_LARGE_INTESTINE8418105841826284181428418142Missense_MutationGAp.A36V

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ACOX3

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 ACOX3


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ACOX3


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RelatedDrugs for ACOX3

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 ACOX3

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