ExonSkipDB Logo

Home

Download

Statistics

Landscape

Help

Contact
Center for Computational Systems Medicine
leaf

Gene summary

leaf

Gene structures and expression levels

leaf

Exon skipping events with PSIs in TCGA

leaf

Exon skipping events with PSIs in GTEx

leaf

Open reading frame (ORF) annotation in the exon skipping event

leaf

Exon skipping events in the canonical protein sequence

leaf

SNVs in the skipped exons with depth of coverage

leaf

Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

leaf

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

leaf

Related drugs with this gene

leaf

Related diseases with this gene

Gene summary for OPA1

check button Gene summary
Gene informationGene symbol

OPA1

Gene ID

4976

Gene nameOPA1, mitochondrial dynamin like GTPase
SynonymsBERHS|MGM1|MTDPS14|NPG|NTG|largeG
Cytomap

3q29

Type of geneprotein-coding
Descriptiondynamin-like 120 kDa protein, mitochondrialdynamin-like guanosine triphosphatasemitochondrial dynamin-like GTPaseoptic atrophy 1 (autosomal dominant)optic atrophy protein 1
Modification date20180523
UniProtAcc

O60313

ContextPubMed: OPA1 [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
OPA1

GO:0007007

inner mitochondrial membrane organization

12509422

OPA1

GO:0008053

mitochondrial fusion

17545159

OPA1

GO:0043066

negative regulation of apoptotic process

12509422

OPA1

GO:0046039

GTP metabolic process

20185555

OPA1

GO:0051259

protein complex oligomerization

20185555

OPA1

GO:0090398

cellular senescence

17545159

OPA1

GO:0097749

membrane tubulation

20185555


Top

Exon skipping events across known transcript of Ensembl for OPA1 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

Top

Gene isoform structures and expression levels for OPA1

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


Top

Exon skipping events with PSIs in TCGA for OPA1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3805943193311140:193311198:193321288:193321346:193332511:193332830193321288:193321346ENSG00000198836.4ENST00000419435.1
exon_skip_3805963193311140:193311198:193332511:193332830:193333462:193333559193332511:193332830ENSG00000198836.4ENST00000392436.2,ENST00000392437.1,ENST00000392438.3,ENST00000361150.2,ENST00000361715.2,ENST00000361510.2,ENST00000361828.2
exon_skip_3805983193321288:193321346:193332511:193332830:193333462:193333559193332511:193332830ENSG00000198836.4ENST00000419435.1
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENSG00000198836.4ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENSG00000198836.4ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3
exon_skip_3806023193333462:193333559:193335572:193335626:193336657:193336709193335572:193335626ENSG00000198836.4ENST00000361715.2
exon_skip_3806033193334966:193335074:193335572:193335626:193336657:193336709193335572:193335626ENSG00000198836.4ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2
exon_skip_3806053193336657:193336725:193343880:193343991:193349400:193349454193343880:193343991ENSG00000198836.4ENST00000361150.2,ENST00000361715.2,ENST00000361908.3,ENST00000361510.2
exon_skip_3806083193336657:193336725:193349400:193349454:193353206:193353311193349400:193349454ENSG00000198836.4ENST00000434811.1,ENST00000497189.1,ENST00000392438.3,ENST00000361828.2
exon_skip_3806133193343880:193343991:193349400:193349454:193353206:193353311193349400:193349454ENSG00000198836.4ENST00000495476.1,ENST00000361150.2,ENST00000361715.2,ENST00000361908.3,ENST00000361510.2
exon_skip_3806173193349400:193349454:193353206:193353311:193354983:193355001193353206:193353311ENSG00000198836.4ENST00000434811.1,ENST00000495476.1,ENST00000497189.1,ENST00000392438.3,ENST00000361150.2,ENST00000361715.2,ENST00000361908.3,ENST00000361510.2,ENST00000361828.2
exon_skip_3806193193360553:193360634:193360763:193360838:193361161:193361233193360763:193360838ENSG00000198836.4ENST00000475899.1,ENST00000392438.3,ENST00000361150.2,ENST00000361715.2,ENST00000361908.3,ENST00000361510.2,ENST00000361828.2
exon_skip_3806203193361161:193361233:193361316:193361416:193361763:193361894193361316:193361416ENSG00000198836.4ENST00000475899.1,ENST00000392438.3,ENST00000361150.2,ENST00000361715.2,ENST00000361908.3,ENST00000361510.2,ENST00000361828.2
exon_skip_3806213193361763:193361894:193363341:193363414:193363516:193363589193363341:193363414ENSG00000198836.4ENST00000392438.3,ENST00000361150.2,ENST00000361715.2,ENST00000361908.3,ENST00000361510.2,ENST00000361828.2
exon_skip_3806223193364853:193364969:193365858:193365923:193366583:193366660193365858:193365923ENSG00000198836.4ENST00000392438.3,ENST00000361150.2,ENST00000361715.2,ENST00000361908.3,ENST00000361510.2,ENST00000361828.2
exon_skip_3806233193384084:193384178:193384958:193385069:193409851:193409921193384958:193385069ENSG00000198836.4ENST00000392438.3,ENST00000361150.2,ENST00000361715.2,ENST00000361908.3,ENST00000361510.2,ENST00000361828.2
exon_skip_3806253193384964:193385069:193385159:193385244:193386103:193386720193385159:193385244ENSG00000198836.4ENST00000445863.1

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

Top

Exon skipping events with PSIs in GTEx for OPA1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3805943193311140:193311198:193321288:193321346:193332511:193332830193321288:193321346ENSG00000198836.4ENST00000419435.1
exon_skip_3805963193311140:193311198:193332511:193332830:193333462:193333559193332511:193332830ENSG00000198836.4ENST00000392438.3,ENST00000361510.2,ENST00000361715.2,ENST00000361828.2,ENST00000361150.2,ENST00000392437.1,ENST00000392436.2
exon_skip_3805983193321288:193321346:193332511:193332830:193333462:193333559193332511:193332830ENSG00000198836.4ENST00000419435.1
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENSG00000198836.4ENST00000361510.2,ENST00000361828.2,ENST00000392436.2,ENST00000434811.1
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENSG00000198836.4ENST00000361908.3,ENST00000392438.3,ENST00000419435.1,ENST00000487986.1
exon_skip_3806023193333462:193333559:193335572:193335626:193336657:193336709193335572:193335626ENSG00000198836.4ENST00000361715.2
exon_skip_3806033193334966:193335074:193335572:193335626:193336657:193336709193335572:193335626ENSG00000198836.4ENST00000361510.2,ENST00000361828.2,ENST00000392436.2,ENST00000434811.1
exon_skip_3806053193336657:193336725:193343880:193343991:193349400:193349454193343880:193343991ENSG00000198836.4ENST00000361908.3,ENST00000361510.2,ENST00000361715.2,ENST00000361150.2
exon_skip_3806083193336657:193336725:193349400:193349454:193353206:193353311193349400:193349454ENSG00000198836.4ENST00000392438.3,ENST00000361828.2,ENST00000434811.1,ENST00000497189.1
exon_skip_3806133193343880:193343991:193349400:193349454:193353206:193353311193349400:193349454ENSG00000198836.4ENST00000361908.3,ENST00000361510.2,ENST00000361715.2,ENST00000361150.2,ENST00000495476.1
exon_skip_3806173193349400:193349454:193353206:193353311:193354983:193355001193353206:193353311ENSG00000198836.4ENST00000361908.3,ENST00000392438.3,ENST00000361510.2,ENST00000361715.2,ENST00000361828.2,ENST00000361150.2,ENST00000434811.1,ENST00000497189.1,ENST00000495476.1
exon_skip_3806193193360553:193360634:193360763:193360838:193361161:193361233193360763:193360838ENSG00000198836.4ENST00000361908.3,ENST00000392438.3,ENST00000361510.2,ENST00000361715.2,ENST00000361828.2,ENST00000361150.2,ENST00000475899.1
exon_skip_3806203193361161:193361233:193361316:193361416:193361763:193361894193361316:193361416ENSG00000198836.4ENST00000361908.3,ENST00000392438.3,ENST00000361510.2,ENST00000361715.2,ENST00000361828.2,ENST00000361150.2,ENST00000475899.1
exon_skip_3806213193361763:193361894:193363341:193363414:193363516:193363589193363341:193363414ENSG00000198836.4ENST00000361908.3,ENST00000392438.3,ENST00000361510.2,ENST00000361715.2,ENST00000361828.2,ENST00000361150.2
exon_skip_3806223193364853:193364969:193365858:193365923:193366583:193366660193365858:193365923ENSG00000198836.4ENST00000361908.3,ENST00000392438.3,ENST00000361510.2,ENST00000361715.2,ENST00000361828.2,ENST00000361150.2
exon_skip_3806233193384084:193384178:193384958:193385069:193409851:193409921193384958:193385069ENSG00000198836.4ENST00000361908.3,ENST00000392438.3,ENST00000361510.2,ENST00000361715.2,ENST00000361828.2,ENST00000361150.2
exon_skip_3806253193384964:193385069:193385159:193385244:193386103:193386720193385159:193385244ENSG00000198836.4ENST00000445863.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

Top

Open reading frame (ORF) annotation in the exon skipping event for OPA1

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
ENST00000361828193332511193332830Frame-shift
ENST00000392438193332511193332830Frame-shift
ENST00000361828193361316193361416Frame-shift
ENST00000392438193361316193361416Frame-shift
ENST00000361828193363341193363414Frame-shift
ENST00000392438193363341193363414Frame-shift
ENST00000361828193365858193365923Frame-shift
ENST00000392438193365858193365923Frame-shift
ENST00000361828193334966193335074In-frame
ENST00000392438193334966193335074In-frame
ENST00000361828193335572193335626In-frame
ENST00000361828193349400193349454In-frame
ENST00000392438193349400193349454In-frame
ENST00000361828193353206193353311In-frame
ENST00000392438193353206193353311In-frame
ENST00000361828193360763193360838In-frame
ENST00000392438193360763193360838In-frame
ENST00000361828193384958193385069In-frame
ENST00000392438193384958193385069In-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
ENST00000361828193332511193332830Frame-shift
ENST00000392438193332511193332830Frame-shift
ENST00000361828193361316193361416Frame-shift
ENST00000392438193361316193361416Frame-shift
ENST00000361828193363341193363414Frame-shift
ENST00000392438193363341193363414Frame-shift
ENST00000361828193365858193365923Frame-shift
ENST00000392438193365858193365923Frame-shift
ENST00000361828193334966193335074In-frame
ENST00000392438193334966193335074In-frame
ENST00000361828193335572193335626In-frame
ENST00000361828193349400193349454In-frame
ENST00000392438193349400193349454In-frame
ENST00000361828193353206193353311In-frame
ENST00000392438193353206193353311In-frame
ENST00000361828193360763193360838In-frame
ENST00000392438193360763193360838In-frame
ENST00000361828193384958193385069In-frame
ENST00000392438193384958193385069In-frame

Top

Infer the effects of exon skipping event on protein functional features for OPA1

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
ENST000003618286398960193334966193335074683790149185
ENST000003924386357960193334966193335074683790149185
ENST000003618286398960193335572193335626791844185203
ENST000003924386357960193349400193349454859912208226
ENST000003618286398960193349400193349454913966226244
ENST0000039243863579601933532061933533119131017226261
ENST0000036182863989601933532061933533119671071244279
ENST00000392438635796019336076319336083813001374355380
ENST00000361828639896019336076319336083813541428373398
ENST00000392438635796019338495819338506929423052902939
ENST00000361828639896019338495819338506929963106920957

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
ENST000003618286398960193334966193335074683790149185
ENST000003924386357960193334966193335074683790149185
ENST000003618286398960193335572193335626791844185203
ENST000003924386357960193349400193349454859912208226
ENST000003618286398960193349400193349454913966226244
ENST0000039243863579601933532061933533119131017226261
ENST0000036182863989601933532061933533119671071244279
ENST00000392438635796019336076319336083813001374355380
ENST00000361828639896019336076319336083813541428373398
ENST00000392438635796019338495819338506929423052902939
ENST00000361828639896019338495819338506929963106920957

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
O60313149185150185Alternative sequenceID=VSP_059072;Note=In isoform 3 and isoform 7. Missing
O60313149185150185Alternative sequenceID=VSP_059072;Note=In isoform 3 and isoform 7. Missing
O6031314918588960ChainID=PRO_0000007397;Note=Dynamin-like 120 kDa protein%2C mitochondrial
O6031314918588960ChainID=PRO_0000007397;Note=Dynamin-like 120 kDa protein%2C mitochondrial
O60313149185158158Natural variantID=VAR_022924;Note=S->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11440988,ECO:0000269|PubMed:11440989,ECO:0000269|PubMed:12036970,ECO:0000269|PubMed:15489334,ECO:0000269|
O60313149185158158Natural variantID=VAR_022924;Note=S->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11440988,ECO:0000269|PubMed:11440989,ECO:0000269|PubMed:12036970,ECO:0000269|PubMed:15489334,ECO:0000269|
O60313149185167167Natural variantID=VAR_022925;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12036970;Dbxref=PMID:12036970
O60313149185167167Natural variantID=VAR_022925;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12036970;Dbxref=PMID:12036970
O60313149185114960Topological domainNote=Mitochondrial intermembrane;Ontology_term=ECO:0000250;evidence=ECO:0000250
O60313149185114960Topological domainNote=Mitochondrial intermembrane;Ontology_term=ECO:0000250;evidence=ECO:0000250
O60313185203150185Alternative sequenceID=VSP_059072;Note=In isoform 3 and isoform 7. Missing
O60313185203186186Alternative sequenceID=VSP_059073;Note=In isoform 4 and isoform 5. G->GHKLVSEVIGASDLLLLLG
O6031318520388960ChainID=PRO_0000007397;Note=Dynamin-like 120 kDa protein%2C mitochondrial
O60313185203195960ChainID=PRO_0000253479;Note=Dynamin-like 120 kDa protein%2C form S1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q2TA68
O60313185203192192Natural variantID=VAR_022926;Note=A->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11440988,ECO:0000269|PubMed:12036970,ECO:0000269|PubMed:16617242;Dbxref=dbSNP:rs34307082,PMID:11440988,PMID:12036970,PMID:16617242
O60313185203194195SiteNote=Cleavage at site S1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q2TA68
O60313185203114960Topological domainNote=Mitochondrial intermembrane;Ontology_term=ECO:0000250;evidence=ECO:0000250
O60313208226209209Alternative sequenceID=VSP_021035;Note=In isoform 2. V->GLLGELILLQQQIQEHEEEARRAAGQYSTSYAQQKRKV;Ontology_term=ECO:0000305;evidence=ECO:0000305
O6031320822688960ChainID=PRO_0000007397;Note=Dynamin-like 120 kDa protein%2C mitochondrial
O60313208226195960ChainID=PRO_0000253479;Note=Dynamin-like 120 kDa protein%2C form S1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q2TA68
O60313208226210254Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
O60313208226114960Topological domainNote=Mitochondrial intermembrane;Ontology_term=ECO:0000250;evidence=ECO:0000250
O6031322624488960ChainID=PRO_0000007397;Note=Dynamin-like 120 kDa protein%2C mitochondrial
O6031322626188960ChainID=PRO_0000007397;Note=Dynamin-like 120 kDa protein%2C mitochondrial
O60313226244195960ChainID=PRO_0000253479;Note=Dynamin-like 120 kDa protein%2C form S1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q2TA68
O60313226261195960ChainID=PRO_0000253479;Note=Dynamin-like 120 kDa protein%2C form S1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q2TA68
O60313226244210254Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
O60313226261210254Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
O60313226244228228Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861
O60313226261228228Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861
O60313226244114960Topological domainNote=Mitochondrial intermembrane;Ontology_term=ECO:0000250;evidence=ECO:0000250
O60313226261114960Topological domainNote=Mitochondrial intermembrane;Ontology_term=ECO:0000250;evidence=ECO:0000250
O6031324427988960ChainID=PRO_0000007397;Note=Dynamin-like 120 kDa protein%2C mitochondrial
O60313244279195960ChainID=PRO_0000253479;Note=Dynamin-like 120 kDa protein%2C form S1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q2TA68
O60313244279210254Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
O60313244279270270Natural variantID=VAR_060829;Note=In OPA1. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11440988;Dbxref=PMID:11440988
O60313244279272272Natural variantID=VAR_060830;Note=In OPA1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14961560;Dbxref=PMID:14961560
O60313244279273273Natural variantID=VAR_060831;Note=In OPA1. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11440988;Dbxref=PMID:11440988
O60313244279114960Topological domainNote=Mitochondrial intermembrane;Ontology_term=ECO:0000250;evidence=ECO:0000250
O6031335538088960ChainID=PRO_0000007397;Note=Dynamin-like 120 kDa protein%2C mitochondrial
O60313355380195960ChainID=PRO_0000253479;Note=Dynamin-like 120 kDa protein%2C form S1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q2TA68
O60313355380285561DomainNote=Dynamin-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055
O60313355380357357Natural variantID=VAR_060836;Note=In DOA+ and OPA1. A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18158317,ECO:0000269|PubMed:19319978;Dbxref=dbSNP:rs190223702,PMID:18158317,PMID:19319978
O60313355380377377Natural variantID=VAR_072126;Note=In OPA1. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23401657;Dbxref=dbSNP:rs780922750,PMID:23401657
O60313355380114960Topological domainNote=Mitochondrial intermembrane;Ontology_term=ECO:0000250;evidence=ECO:0000250
O6031337339888960ChainID=PRO_0000007397;Note=Dynamin-like 120 kDa protein%2C mitochondrial
O60313373398195960ChainID=PRO_0000253479;Note=Dynamin-like 120 kDa protein%2C form S1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q2TA68
O60313373398285561DomainNote=Dynamin-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055
O60313373398377377Natural variantID=VAR_072126;Note=In OPA1. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23401657;Dbxref=dbSNP:rs780922750,PMID:23401657
O60313373398382382Natural variantID=VAR_060837;Note=In OPA1 and BEHRS. I->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19319978,ECO:0000269|PubMed:21636302,ECO:0000269|PubMed:25146916;Dbxref=dbSNP:rs143319805,PMID:19319978,PMID:21636302,PMID:25146916
O60313373398384384Natural variantID=VAR_060838;Note=In OPA1. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11440989;Dbxref=PMID:11440989
O60313373398396396Natural variantID=VAR_060839;Note=In OPA1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19319978;Dbxref=PMID:19319978
O60313373398396396Natural variantID=VAR_022927;Note=In OPA1. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12036970;Dbxref=dbSNP:rs727504060,PMID:12036970
O60313373398398402Nucleotide bindingNote=GTP;Ontology_term=ECO:0000255;evidence=ECO:0000255
O60313373398398401RegionNote=G3 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055
O60313373398114960Topological domainNote=Mitochondrial intermembrane;Ontology_term=ECO:0000250;evidence=ECO:0000250
O6031390293988960ChainID=PRO_0000007397;Note=Dynamin-like 120 kDa protein%2C mitochondrial
O60313902939195960ChainID=PRO_0000253479;Note=Dynamin-like 120 kDa protein%2C form S1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q2TA68
O60313902939895960Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
O60313902939907907Natural variantID=VAR_060867;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11440989;Dbxref=dbSNP:rs863224138,PMID:11440989
O60313902939910910Natural variantID=VAR_072132;Note=In DOA+%3B impairs protein folding%3B loss of function in promoting mitochondrial fusion. V->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18158317,ECO:0000269|PubMed:20185555;Dbxref=dbSNP:rs387906901,PMID:18158317
O60313902939910910Natural variantID=VAR_072133;Note=In OPA1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22857269;Dbxref=PMID:22857269
O60313902939932932Natural variantID=VAR_060868;Note=In OPA1. R->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19319978,ECO:0000269|PubMed:19325939;Dbxref=dbSNP:rs145710079,PMID:19319978,PMID:19325939
O60313902939939939Natural variantID=VAR_028370;Note=In OPA1%3B impairs protein folding%3B loss of function in promoting mitochondrial fusion. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11810270,ECO:0000269|PubMed:20185555;Dbxref=PMID:11810270,PMID:20185555
O60313902939114960Topological domainNote=Mitochondrial intermembrane;Ontology_term=ECO:0000250;evidence=ECO:0000250
O6031392095788960ChainID=PRO_0000007397;Note=Dynamin-like 120 kDa protein%2C mitochondrial
O60313920957195960ChainID=PRO_0000253479;Note=Dynamin-like 120 kDa protein%2C form S1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q2TA68
O60313920957895960Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
O60313920957932932Natural variantID=VAR_060868;Note=In OPA1. R->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19319978,ECO:0000269|PubMed:19325939;Dbxref=dbSNP:rs145710079,PMID:19319978,PMID:19325939
O60313920957939939Natural variantID=VAR_028370;Note=In OPA1%3B impairs protein folding%3B loss of function in promoting mitochondrial fusion. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11810270,ECO:0000269|PubMed:20185555;Dbxref=PMID:11810270,PMID:20185555
O60313920957949949Natural variantID=VAR_060869;Note=In OPA1. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19319978,ECO:0000269|PubMed:19969356;Dbxref=PMID:19319978,PMID:19969356
O60313920957114960Topological domainNote=Mitochondrial intermembrane;Ontology_term=ECO:0000250;evidence=ECO:0000250


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
O60313149185150185Alternative sequenceID=VSP_059072;Note=In isoform 3 and isoform 7. Missing
O60313149185150185Alternative sequenceID=VSP_059072;Note=In isoform 3 and isoform 7. Missing
O6031314918588960ChainID=PRO_0000007397;Note=Dynamin-like 120 kDa protein%2C mitochondrial
O6031314918588960ChainID=PRO_0000007397;Note=Dynamin-like 120 kDa protein%2C mitochondrial
O60313149185158158Natural variantID=VAR_022924;Note=S->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11440988,ECO:0000269|PubMed:11440989,ECO:0000269|PubMed:12036970,ECO:0000269|PubMed:15489334,ECO:0000269|
O60313149185158158Natural variantID=VAR_022924;Note=S->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11440988,ECO:0000269|PubMed:11440989,ECO:0000269|PubMed:12036970,ECO:0000269|PubMed:15489334,ECO:0000269|
O60313149185167167Natural variantID=VAR_022925;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12036970;Dbxref=PMID:12036970
O60313149185167167Natural variantID=VAR_022925;Note=P->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12036970;Dbxref=PMID:12036970
O60313149185114960Topological domainNote=Mitochondrial intermembrane;Ontology_term=ECO:0000250;evidence=ECO:0000250
O60313149185114960Topological domainNote=Mitochondrial intermembrane;Ontology_term=ECO:0000250;evidence=ECO:0000250
O60313185203150185Alternative sequenceID=VSP_059072;Note=In isoform 3 and isoform 7. Missing
O60313185203186186Alternative sequenceID=VSP_059073;Note=In isoform 4 and isoform 5. G->GHKLVSEVIGASDLLLLLG
O6031318520388960ChainID=PRO_0000007397;Note=Dynamin-like 120 kDa protein%2C mitochondrial
O60313185203195960ChainID=PRO_0000253479;Note=Dynamin-like 120 kDa protein%2C form S1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q2TA68
O60313185203192192Natural variantID=VAR_022926;Note=A->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11440988,ECO:0000269|PubMed:12036970,ECO:0000269|PubMed:16617242;Dbxref=dbSNP:rs34307082,PMID:11440988,PMID:12036970,PMID:16617242
O60313185203194195SiteNote=Cleavage at site S1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q2TA68
O60313185203114960Topological domainNote=Mitochondrial intermembrane;Ontology_term=ECO:0000250;evidence=ECO:0000250
O60313208226209209Alternative sequenceID=VSP_021035;Note=In isoform 2. V->GLLGELILLQQQIQEHEEEARRAAGQYSTSYAQQKRKV;Ontology_term=ECO:0000305;evidence=ECO:0000305
O6031320822688960ChainID=PRO_0000007397;Note=Dynamin-like 120 kDa protein%2C mitochondrial
O60313208226195960ChainID=PRO_0000253479;Note=Dynamin-like 120 kDa protein%2C form S1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q2TA68
O60313208226210254Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
O60313208226114960Topological domainNote=Mitochondrial intermembrane;Ontology_term=ECO:0000250;evidence=ECO:0000250
O6031322624488960ChainID=PRO_0000007397;Note=Dynamin-like 120 kDa protein%2C mitochondrial
O6031322626188960ChainID=PRO_0000007397;Note=Dynamin-like 120 kDa protein%2C mitochondrial
O60313226244195960ChainID=PRO_0000253479;Note=Dynamin-like 120 kDa protein%2C form S1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q2TA68
O60313226261195960ChainID=PRO_0000253479;Note=Dynamin-like 120 kDa protein%2C form S1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q2TA68
O60313226244210254Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
O60313226261210254Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
O60313226244228228Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861
O60313226261228228Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861
O60313226244114960Topological domainNote=Mitochondrial intermembrane;Ontology_term=ECO:0000250;evidence=ECO:0000250
O60313226261114960Topological domainNote=Mitochondrial intermembrane;Ontology_term=ECO:0000250;evidence=ECO:0000250
O6031324427988960ChainID=PRO_0000007397;Note=Dynamin-like 120 kDa protein%2C mitochondrial
O60313244279195960ChainID=PRO_0000253479;Note=Dynamin-like 120 kDa protein%2C form S1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q2TA68
O60313244279210254Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
O60313244279270270Natural variantID=VAR_060829;Note=In OPA1. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11440988;Dbxref=PMID:11440988
O60313244279272272Natural variantID=VAR_060830;Note=In OPA1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14961560;Dbxref=PMID:14961560
O60313244279273273Natural variantID=VAR_060831;Note=In OPA1. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11440988;Dbxref=PMID:11440988
O60313244279114960Topological domainNote=Mitochondrial intermembrane;Ontology_term=ECO:0000250;evidence=ECO:0000250
O6031335538088960ChainID=PRO_0000007397;Note=Dynamin-like 120 kDa protein%2C mitochondrial
O60313355380195960ChainID=PRO_0000253479;Note=Dynamin-like 120 kDa protein%2C form S1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q2TA68
O60313355380285561DomainNote=Dynamin-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055
O60313355380357357Natural variantID=VAR_060836;Note=In DOA+ and OPA1. A->T;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18158317,ECO:0000269|PubMed:19319978;Dbxref=dbSNP:rs190223702,PMID:18158317,PMID:19319978
O60313355380377377Natural variantID=VAR_072126;Note=In OPA1. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23401657;Dbxref=dbSNP:rs780922750,PMID:23401657
O60313355380114960Topological domainNote=Mitochondrial intermembrane;Ontology_term=ECO:0000250;evidence=ECO:0000250
O6031337339888960ChainID=PRO_0000007397;Note=Dynamin-like 120 kDa protein%2C mitochondrial
O60313373398195960ChainID=PRO_0000253479;Note=Dynamin-like 120 kDa protein%2C form S1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q2TA68
O60313373398285561DomainNote=Dynamin-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055
O60313373398377377Natural variantID=VAR_072126;Note=In OPA1. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23401657;Dbxref=dbSNP:rs780922750,PMID:23401657
O60313373398382382Natural variantID=VAR_060837;Note=In OPA1 and BEHRS. I->M;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19319978,ECO:0000269|PubMed:21636302,ECO:0000269|PubMed:25146916;Dbxref=dbSNP:rs143319805,PMID:19319978,PMID:21636302,PMID:25146916
O60313373398384384Natural variantID=VAR_060838;Note=In OPA1. L->F;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11440989;Dbxref=PMID:11440989
O60313373398396396Natural variantID=VAR_060839;Note=In OPA1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19319978;Dbxref=PMID:19319978
O60313373398396396Natural variantID=VAR_022927;Note=In OPA1. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12036970;Dbxref=dbSNP:rs727504060,PMID:12036970
O60313373398398402Nucleotide bindingNote=GTP;Ontology_term=ECO:0000255;evidence=ECO:0000255
O60313373398398401RegionNote=G3 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055
O60313373398114960Topological domainNote=Mitochondrial intermembrane;Ontology_term=ECO:0000250;evidence=ECO:0000250
O6031390293988960ChainID=PRO_0000007397;Note=Dynamin-like 120 kDa protein%2C mitochondrial
O60313902939195960ChainID=PRO_0000253479;Note=Dynamin-like 120 kDa protein%2C form S1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q2TA68
O60313902939895960Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
O60313902939907907Natural variantID=VAR_060867;Note=E->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11440989;Dbxref=dbSNP:rs863224138,PMID:11440989
O60313902939910910Natural variantID=VAR_072132;Note=In DOA+%3B impairs protein folding%3B loss of function in promoting mitochondrial fusion. V->D;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18158317,ECO:0000269|PubMed:20185555;Dbxref=dbSNP:rs387906901,PMID:18158317
O60313902939910910Natural variantID=VAR_072133;Note=In OPA1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22857269;Dbxref=PMID:22857269
O60313902939932932Natural variantID=VAR_060868;Note=In OPA1. R->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19319978,ECO:0000269|PubMed:19325939;Dbxref=dbSNP:rs145710079,PMID:19319978,PMID:19325939
O60313902939939939Natural variantID=VAR_028370;Note=In OPA1%3B impairs protein folding%3B loss of function in promoting mitochondrial fusion. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11810270,ECO:0000269|PubMed:20185555;Dbxref=PMID:11810270,PMID:20185555
O60313902939114960Topological domainNote=Mitochondrial intermembrane;Ontology_term=ECO:0000250;evidence=ECO:0000250
O6031392095788960ChainID=PRO_0000007397;Note=Dynamin-like 120 kDa protein%2C mitochondrial
O60313920957195960ChainID=PRO_0000253479;Note=Dynamin-like 120 kDa protein%2C form S1;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q2TA68
O60313920957895960Coiled coilOntology_term=ECO:0000255;evidence=ECO:0000255
O60313920957932932Natural variantID=VAR_060868;Note=In OPA1. R->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19319978,ECO:0000269|PubMed:19325939;Dbxref=dbSNP:rs145710079,PMID:19319978,PMID:19325939
O60313920957939939Natural variantID=VAR_028370;Note=In OPA1%3B impairs protein folding%3B loss of function in promoting mitochondrial fusion. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11810270,ECO:0000269|PubMed:20185555;Dbxref=PMID:11810270,PMID:20185555
O60313920957949949Natural variantID=VAR_060869;Note=In OPA1. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:19319978,ECO:0000269|PubMed:19969356;Dbxref=PMID:19319978,PMID:19969356
O60313920957114960Topological domainNote=Mitochondrial intermembrane;Ontology_term=ECO:0000250;evidence=ECO:0000250


Top

SNVs in the skipped exons for OPA1

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_380596
exon_skip_380598
193332512193332830193332740193332740Frame_Shift_DelT-p.N87fs
LIHCTCGA-DD-A39Y-01exon_skip_380596
exon_skip_380598
193332512193332830193332773193332773Frame_Shift_DelA-p.L98fs
LIHCTCGA-DD-A3A0-01exon_skip_380617
193353207193353311193353238193353238Frame_Shift_DelA-p.E292fs
LIHCTCGA-DD-A39Y-01exon_skip_380619
193360764193360838193360803193360803Frame_Shift_DelA-p.K424fs
LIHCTCGA-BC-A3KG-01exon_skip_380622
193365859193365923193365886193365886Frame_Shift_DelG-p.W633fs
BLCATCGA-DK-A6B1-01exon_skip_380596
exon_skip_380598
193332512193332830193332657193332657Nonsense_MutationCTp.Q60*
CESCTCGA-UC-A7PF-01exon_skip_380596
exon_skip_380598
193332512193332830193332657193332657Nonsense_MutationCTp.Q60*
LUSCTCGA-85-6561-01exon_skip_380613
exon_skip_380608
193349401193349454193349413193349413Nonsense_MutationGTp.E268*
LIHCTCGA-DD-AACL-01exon_skip_380617
193353207193353311193353249193353249Nonsense_MutationATp.K296X
BLCATCGA-FD-A5BR-01exon_skip_380617
193353207193353311193353261193353261Nonsense_MutationATp.K300*
LUSCTCGA-18-3416-01exon_skip_380613
exon_skip_380608
193349401193349454193349400193349400Splice_SiteGTp.V264_splice

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
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE193334967193335074193335062193335062Frame_Shift_DelT-p.F183fs
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE193360764193360838193360803193360803Frame_Shift_DelA-p.K369fs
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE193384959193385069193384972193384973Frame_Shift_Ins-Ap.K908fs
HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE193332512193332830193332550193332550Missense_MutationTCp.I24T
HEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE193332512193332830193332550193332550Missense_MutationTCp.I24T
CAL33_UPPER_AERODIGESTIVE_TRACT193332512193332830193332551193332551Missense_MutationAGp.I24M
EVSAT_BREAST193332512193332830193332579193332579Missense_MutationCTp.H34Y
MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE193332512193332830193332691193332691Missense_MutationGAp.R71H
SNU81_LARGE_INTESTINE193332512193332830193332780193332780Missense_MutationCTp.R101C
NCIBL2087_MATCHED_NORMAL_TISSUE193334967193335074193335024193335024Missense_MutationTCp.F169S
NCIH2087_LUNG193334967193335074193335024193335024Missense_MutationTCp.F169S
HT115_LARGE_INTESTINE193334967193335074193335027193335027Missense_MutationAGp.D170G
JHUEM7_ENDOMETRIUM193353207193353311193353264193353264Missense_MutationTGp.L246V
HEC108_ENDOMETRIUM193353207193353311193353280193353280Missense_MutationAGp.D251G
NCIH2405_LUNG193363342193363414193363354193363354Missense_MutationATp.I486F
CAKI2_KIDNEY193363342193363414193363388193363388Missense_MutationGCp.G497A
HEC1A_ENDOMETRIUM193363342193363414193363397193363397Missense_MutationCTp.A500V
SNUC4_LARGE_INTESTINE193365859193365923193365909193365909Missense_MutationCTp.R586W
HEC1A_ENDOMETRIUM193365859193365923193365909193365909Missense_MutationCTp.R586W
FUOV1_OVARY193332512193332830193332630193332630Nonsense_MutationCTp.Q51*
SNU81_LARGE_INTESTINE193360764193360838193360794193360794Nonsense_MutationCTp.R366*
SNU175_LARGE_INTESTINE193384959193385069193384964193384964Nonsense_MutationCTp.R905*
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE193361317193361416193361416193361416Splice_SiteGTp.D438Y
RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE193365859193365923193365922193365922Splice_SiteGTp.R590L

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for OPA1

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3GBMrs7624750chr3:193334991G/A2.52e-08
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3COADrs7624750chr3:193334991G/A5.99e-16
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3BLCArs7624750chr3:193334991G/A2.23e-13
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3ESCArs7624750chr3:193334991G/A1.66e-19
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3ESCArs7624750chr3:193334991G/A7.61e-04
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3HNSCrs7624750chr3:193334991G/A1.87e-39
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3BRCArs7624750chr3:193334991G/A3.19e-61
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3BRCArs7624750chr3:193334991G/A4.20e-12
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3BRCArs7624750chr3:193334991G/A1.14e-07
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3KICHrs7624750chr3:193334991G/A1.90e-05
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3KIRPrs7624750chr3:193334991G/A2.36e-10
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3LGGrs7624750chr3:193334991G/A3.22e-44
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3LGGrs7624750chr3:193334991G/A1.49e-06
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3KIRCrs7624750chr3:193334991G/A1.96e-21
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3KIRCrs7624750chr3:193334991G/A2.58e-04
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3LUADrs7624750chr3:193334991G/A6.84e-15
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3LUADrs7624750chr3:193334991G/A1.51e-05
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3LUSCrs7624750chr3:193334991G/A4.82e-41
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3LUSCrs7624750chr3:193334991G/A1.15e-05
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3LUSCrs7624750chr3:193334991G/A4.93e-05
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3LUSCrs7624750chr3:193334991G/A6.68e-04
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3OVrs7624750chr3:193334991G/A1.96e-15
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3READrs7624750chr3:193334991G/A2.80e-07
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3PCPGrs7624750chr3:193334991G/A3.88e-08
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3PAADrs7624750chr3:193334991G/A7.35e-08
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3PRADrs7624750chr3:193334991G/A1.21e-17
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3SARCrs7624750chr3:193334991G/A1.48e-07
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3SKCMrs7624750chr3:193334991G/A2.27e-04
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3STADrs7624750chr3:193334991G/A1.74e-31
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3THCArs7624750chr3:193334991G/A1.63e-17
exon_skip_3806003193333462:193333559:193334966:193335074:193336657:193336709193334966:193335074ENST00000419435.1,ENST00000392438.3,ENST00000487986.1,ENST00000361908.3THCArs7624750chr3:193334991G/A3.60e-05
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2GBMrs7624750chr3:193334991G/A2.52e-08
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2COADrs7624750chr3:193334991G/A5.99e-16
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2BLCArs7624750chr3:193334991G/A2.23e-13
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2ESCArs7624750chr3:193334991G/A1.66e-19
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2ESCArs7624750chr3:193334991G/A7.61e-04
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2HNSCrs7624750chr3:193334991G/A1.87e-39
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2BRCArs7624750chr3:193334991G/A3.19e-61
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2BRCArs7624750chr3:193334991G/A4.20e-12
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2BRCArs7624750chr3:193334991G/A1.14e-07
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2KICHrs7624750chr3:193334991G/A1.90e-05
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2KIRPrs7624750chr3:193334991G/A2.36e-10
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2LGGrs7624750chr3:193334991G/A3.22e-44
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2LGGrs7624750chr3:193334991G/A1.49e-06
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2KIRCrs7624750chr3:193334991G/A1.96e-21
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2KIRCrs7624750chr3:193334991G/A2.58e-04
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2LUADrs7624750chr3:193334991G/A6.84e-15
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2LUADrs7624750chr3:193334991G/A1.51e-05
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2LUSCrs7624750chr3:193334991G/A4.82e-41
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2LUSCrs7624750chr3:193334991G/A1.15e-05
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2LUSCrs7624750chr3:193334991G/A4.93e-05
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2LUSCrs7624750chr3:193334991G/A6.68e-04
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2OVrs7624750chr3:193334991G/A1.96e-15
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2READrs7624750chr3:193334991G/A2.80e-07
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2PCPGrs7624750chr3:193334991G/A3.88e-08
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2PAADrs7624750chr3:193334991G/A7.35e-08
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2PRADrs7624750chr3:193334991G/A1.21e-17
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2SARCrs7624750chr3:193334991G/A1.48e-07
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2SKCMrs7624750chr3:193334991G/A2.27e-04
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2STADrs7624750chr3:193334991G/A1.74e-31
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2THCArs7624750chr3:193334991G/A1.63e-17
exon_skip_3805993193333462:193333559:193334966:193335074:193335572:193335626193334966:193335074ENST00000392436.2,ENST00000434811.1,ENST00000361510.2,ENST00000361828.2THCArs7624750chr3:193334991G/A3.60e-05

Top

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for OPA1


Top

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for OPA1


Top

RelatedDrugs for OPA1

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for OPA1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
OPA1C0338508Optic Atrophy, Autosomal Dominant21CTD_human;ORPHANET;UNIPROT
OPA1C3276549OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY10UNIPROT
OPA1C0036341Schizophrenia2PSYGENET
OPA1C0029408Degenerative polyarthritis1CTD_human
OPA1C0221061Behr syndrome1ORPHANET;UNIPROT
OPA1C4225163MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE)1UNIPROT