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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 EPB41L2

check button Gene summary
Gene informationGene symbol

EPB41L2

Gene ID

2037

Gene nameerythrocyte membrane protein band 4.1 like 2
Synonyms4.1-G|4.1G
Cytomap

6q23.1-q23.2

Type of geneprotein-coding
Descriptionband 4.1-like protein 2erythrocyte membrane protein band 4.1 like-protein 2generally expressed protein 4.1
Modification date20180523
UniProtAcc

O43491

ContextPubMed: EPB41L2 [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 EPB41L2 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 EPB41L2

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 EPB41L2

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4622496131161515:131161738:131179270:131179383:131184777:131184858131179270:131179383ENSG00000079819.12ENST00000530481.1,ENST00000528282.1,ENST00000445890.2,ENST00000524581.1,ENST00000525271.1,ENST00000531410.1,ENST00000452150.2,ENST00000530757.1,ENST00000392427.3,ENST00000337057.3,ENST00000368126.2
exon_skip_4622506131160491:131161738:131179275:131179383:131184777:131184858131179275:131179383ENSG00000079819.12ENST00000368128.2
exon_skip_4622526131184777:131184858:131186675:131186774:131188598:131188721131186675:131186774ENSG00000079819.12ENST00000368128.2,ENST00000530481.1,ENST00000528282.1,ENST00000529208.1,ENST00000445890.2,ENST00000524581.1,ENST00000527017.2,ENST00000527411.1,ENST00000337057.3
exon_skip_4622546131184777:131184858:131186675:131186774:131206235:131206408131186675:131186774ENSG00000079819.12ENST00000525193.1
exon_skip_4622586131186675:131186774:131188598:131188721:131190702:131191266131188598:131188721ENSG00000079819.12ENST00000368128.2,ENST00000529208.1,ENST00000524581.1,ENST00000527411.1,ENST00000337057.3
exon_skip_4622596131186675:131186774:131188598:131188721:131190951:131191266131188598:131188721ENSG00000079819.12ENST00000530481.1
exon_skip_4622616131186675:131186774:131188598:131188721:131206235:131206408131188598:131188721ENSG00000079819.12ENST00000528282.1,ENST00000445890.2
exon_skip_4622676131186675:131186774:131190951:131191266:131206235:131206408131190951:131191266ENSG00000079819.12ENST00000527659.1
exon_skip_4622766131188598:131188721:131190702:131191266:131199243:131199354131190702:131191266ENSG00000079819.12ENST00000368128.2,ENST00000524581.1,ENST00000337057.3
exon_skip_4622776131188598:131188721:131190702:131191266:131206235:131206408131190702:131191266ENSG00000079819.12ENST00000529208.1,ENST00000527411.1
exon_skip_4622836131188598:131188721:131190951:131191266:131206235:131206408131190951:131191266ENSG00000079819.12ENST00000530481.1
exon_skip_4622876131188598:131188721:131191467:131191521:131199243:131199354131191467:131191521ENSG00000079819.12ENST00000530757.1
exon_skip_4622936131191216:131191266:131191467:131191521:131193510:131193678131191467:131191521ENSG00000079819.12ENST00000533912.1,ENST00000525198.1
exon_skip_4622946131191216:131191266:131191467:131191521:131197813:131197915131191467:131191521ENSG00000079819.12ENST00000456097.2
exon_skip_4623046131191216:131191266:131199243:131199390:131201283:131201346131199243:131199390ENSG00000079819.12ENST00000527423.1,ENST00000368128.2,ENST00000337057.3
exon_skip_4623106131191467:131191521:131193510:131193678:131199243:131199354131193510:131193678ENSG00000079819.12ENST00000527017.2,ENST00000533912.1,ENST00000525198.1
exon_skip_4623126131191467:131191521:131197813:131197915:131199243:131199354131197813:131197915ENSG00000079819.12ENST00000456097.2
exon_skip_4623256131199243:131199390:131201283:131201346:131201593:131201629131201283:131201346ENSG00000079819.12ENST00000527423.1,ENST00000530757.1
exon_skip_4623266131199243:131199390:131201283:131201346:131206235:131206408131201283:131201346ENSG00000079819.12ENST00000368128.2,ENST00000337057.3,ENST00000456097.2
exon_skip_4623316131229960:131230003:131247744:131247849:131276244:131276457131247744:131247849ENSG00000079819.12ENST00000368128.2,ENST00000530481.1,ENST00000525193.1,ENST00000528282.1,ENST00000529208.1,ENST00000445890.2,ENST00000525271.1,ENST00000392427.3,ENST00000527411.1,ENST00000527659.1,ENST00000337057.3
exon_skip_4623326131247744:131247849:131276244:131276457:131277133:131277625131276244:131276457ENSG00000079819.12ENST00000368128.2,ENST00000530481.1,ENST00000525193.1,ENST00000528282.1,ENST00000529208.1,ENST00000445890.2,ENST00000525271.1,ENST00000392427.3,ENST00000527411.1,ENST00000527659.1,ENST00000337057.3
exon_skip_4623386131277271:131277639:131336420:131336473:131336958:131336982131336420:131336473ENSG00000079819.12ENST00000526983.1

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

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Exon skipping events with PSIs in GTEx for EPB41L2

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4622496131161515:131161738:131179270:131179383:131184777:131184858131179270:131179383ENSG00000079819.12ENST00000452150.2,ENST00000531410.1,ENST00000528282.1,ENST00000530481.1,ENST00000445890.2,ENST00000337057.3,ENST00000530757.1,ENST00000392427.3,ENST00000524581.1,ENST00000525271.1,ENST00000368126.2
exon_skip_4622506131160491:131161738:131179275:131179383:131184777:131184858131179275:131179383ENSG00000079819.12ENST00000368128.2
exon_skip_4622526131184777:131184858:131186675:131186774:131188598:131188721131186675:131186774ENSG00000079819.12ENST00000528282.1,ENST00000530481.1,ENST00000445890.2,ENST00000337057.3,ENST00000368128.2,ENST00000527411.1,ENST00000524581.1,ENST00000529208.1,ENST00000527017.2
exon_skip_4622546131184777:131184858:131186675:131186774:131206235:131206408131186675:131186774ENSG00000079819.12ENST00000525193.1
exon_skip_4622586131186675:131186774:131188598:131188721:131190702:131191266131188598:131188721ENSG00000079819.12ENST00000337057.3,ENST00000368128.2,ENST00000527411.1,ENST00000524581.1,ENST00000529208.1
exon_skip_4622596131186675:131186774:131188598:131188721:131190951:131191266131188598:131188721ENSG00000079819.12ENST00000530481.1
exon_skip_4622616131186675:131186774:131188598:131188721:131206235:131206408131188598:131188721ENSG00000079819.12ENST00000528282.1,ENST00000445890.2
exon_skip_4622676131186675:131186774:131190951:131191266:131206235:131206408131190951:131191266ENSG00000079819.12ENST00000527659.1
exon_skip_4622766131188598:131188721:131190702:131191266:131199243:131199354131190702:131191266ENSG00000079819.12ENST00000337057.3,ENST00000368128.2,ENST00000524581.1
exon_skip_4622776131188598:131188721:131190702:131191266:131206235:131206408131190702:131191266ENSG00000079819.12ENST00000527411.1,ENST00000529208.1
exon_skip_4622836131188598:131188721:131190951:131191266:131206235:131206408131190951:131191266ENSG00000079819.12ENST00000530481.1
exon_skip_4622876131188598:131188721:131191467:131191521:131199243:131199354131191467:131191521ENSG00000079819.12ENST00000530757.1
exon_skip_4622936131191216:131191266:131191467:131191521:131193510:131193678131191467:131191521ENSG00000079819.12ENST00000533912.1,ENST00000525198.1
exon_skip_4622946131191216:131191266:131191467:131191521:131197813:131197915131191467:131191521ENSG00000079819.12ENST00000456097.2
exon_skip_4623046131191216:131191266:131199243:131199390:131201283:131201346131199243:131199390ENSG00000079819.12ENST00000337057.3,ENST00000368128.2,ENST00000527423.1
exon_skip_4623106131191467:131191521:131193510:131193678:131199243:131199354131193510:131193678ENSG00000079819.12ENST00000527017.2,ENST00000533912.1,ENST00000525198.1
exon_skip_4623126131191467:131191521:131197813:131197915:131199243:131199354131197813:131197915ENSG00000079819.12ENST00000456097.2
exon_skip_4623256131199243:131199390:131201283:131201346:131201593:131201629131201283:131201346ENSG00000079819.12ENST00000530757.1,ENST00000527423.1
exon_skip_4623266131199243:131199390:131201283:131201346:131206235:131206408131201283:131201346ENSG00000079819.12ENST00000337057.3,ENST00000368128.2,ENST00000456097.2
exon_skip_4623316131229960:131230003:131247744:131247849:131276244:131276457131247744:131247849ENSG00000079819.12ENST00000528282.1,ENST00000530481.1,ENST00000445890.2,ENST00000337057.3,ENST00000392427.3,ENST00000368128.2,ENST00000527411.1,ENST00000525271.1,ENST00000525193.1,ENST00000527659.1,ENST00000529208.1
exon_skip_4623326131247744:131247849:131276244:131276457:131277133:131277625131276244:131276457ENSG00000079819.12ENST00000528282.1,ENST00000530481.1,ENST00000445890.2,ENST00000337057.3,ENST00000392427.3,ENST00000368128.2,ENST00000527411.1,ENST00000525271.1,ENST00000525193.1,ENST00000527659.1,ENST00000529208.1
exon_skip_4623386131277271:131277639:131336420:131336473:131336958:131336982131336420:131336473ENSG00000079819.12ENST00000526983.1

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 EPB41L2

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
ENST000003370571311792701311793835CDS-5UTR
ENST00000368128131179275131179383In-frame
ENST00000337057131186675131186774In-frame
ENST00000368128131186675131186774In-frame
ENST00000337057131188598131188721In-frame
ENST00000368128131188598131188721In-frame
ENST00000337057131190702131191266In-frame
ENST00000368128131190702131191266In-frame
ENST00000337057131199243131199390In-frame
ENST00000368128131199243131199390In-frame
ENST00000337057131201283131201346In-frame
ENST00000368128131201283131201346In-frame
ENST00000337057131247744131247849In-frame
ENST00000368128131247744131247849In-frame
ENST00000337057131276244131276457In-frame
ENST00000368128131276244131276457In-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
ENST000003370571311792701311793835CDS-5UTR
ENST00000368128131179275131179383In-frame
ENST00000337057131186675131186774In-frame
ENST00000368128131186675131186774In-frame
ENST00000337057131188598131188721In-frame
ENST00000368128131188598131188721In-frame
ENST00000337057131190702131191266In-frame
ENST00000368128131190702131191266In-frame
ENST00000337057131199243131199390In-frame
ENST00000368128131199243131199390In-frame
ENST00000337057131201283131201346In-frame
ENST00000368128131201283131201346In-frame
ENST00000337057131247744131247849In-frame
ENST00000368128131247744131247849In-frame
ENST00000337057131276244131276457In-frame
ENST00000368128131276244131276457In-frame

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Infer the effects of exon skipping event on protein functional features for EPB41L2

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
ENST0000033705744741005131276244131276457675887164235
ENST0000036812844731005131276244131276457684896164235
ENST0000033705744741005131247744131247849888992235270
ENST00000368128447310051312477441312478498971001235270
ENST000003370574474100513120128313120134620162078611632
ENST000003681284473100513120128313120134620252087611632
ENST000003370574474100513119924313119939020792225632681
ENST000003681284473100513119924313119939020882234632681
ENST000003370574474100513119070213119126622262789681869
ENST000003681284473100513119070213119126622352798681869
ENST000003370574474100513118859813118872127902912869910
ENST000003681284473100513118859813118872127992921869910
ENST000003370574474100513118667513118677429133011910943
ENST000003681284473100513118667513118677429223020910943
ENST0000036812844731005131179275131179383310232099701006

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
ENST0000033705744741005131276244131276457675887164235
ENST0000036812844731005131276244131276457684896164235
ENST0000033705744741005131247744131247849888992235270
ENST00000368128447310051312477441312478498971001235270
ENST000003370574474100513120128313120134620162078611632
ENST000003681284473100513120128313120134620252087611632
ENST000003370574474100513119924313119939020792225632681
ENST000003681284473100513119924313119939020882234632681
ENST000003370574474100513119070213119126622262789681869
ENST000003681284473100513119070213119126622352798681869
ENST000003370574474100513118859813118872127902912869910
ENST000003681284473100513118859813118872127992921869910
ENST000003370574474100513118667513118677429133011910943
ENST000003681284473100513118667513118677429223020910943
ENST0000036812844731005131179275131179383310232099701006

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
O4349116423521005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O4349116423521005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491164235218499DomainNote=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084
O43491164235218499DomainNote=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084
O43491164235170170Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
O43491164235170170Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
O43491164235208208Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O70318
O43491164235208208Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O70318
O4349123527021005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O4349123527021005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491235270218499DomainNote=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084
O43491235270218499DomainNote=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084
O43491611632612943Alternative sequenceID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O43491611632612943Alternative sequenceID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O43491611632612869Alternative sequenceID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
O43491611632612869Alternative sequenceID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
O43491611632612681Alternative sequenceID=VSP_047181;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491611632612681Alternative sequenceID=VSP_047181;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O4349161163221005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O4349161163221005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491611632614614Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:18669648,PMID:23186163
O43491611632614614Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:18669648,PMID:23186163
O43491611632623623Modified residueNote=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O70318
O43491611632623623Modified residueNote=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O70318
O43491611632627627Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O70318
O43491611632627627Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O70318
O43491611632611676RegionNote=Spectrin--actin-binding
O43491611632611676RegionNote=Spectrin--actin-binding
O43491632681612943Alternative sequenceID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O43491632681612943Alternative sequenceID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O43491632681612869Alternative sequenceID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
O43491632681612869Alternative sequenceID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
O43491632681612681Alternative sequenceID=VSP_047181;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491632681612681Alternative sequenceID=VSP_047181;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O4349163268121005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O4349163268121005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491632681647647Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
O43491632681647647Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
O43491632681611676RegionNote=Spectrin--actin-binding
O43491632681611676RegionNote=Spectrin--actin-binding
O43491681869612943Alternative sequenceID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O43491681869612943Alternative sequenceID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O43491681869612869Alternative sequenceID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
O43491681869612869Alternative sequenceID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
O43491681869612681Alternative sequenceID=VSP_047181;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491681869612681Alternative sequenceID=VSP_047181;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491681869787869Alternative sequenceID=VSP_047182;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491681869787869Alternative sequenceID=VSP_047182;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O4349168186921005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O4349168186921005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491681869715715Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163,PMID
O43491681869715715Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163,PMID
O43491681869718718Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
O43491681869718718Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
O43491681869763763Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O70318
O43491681869763763Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O70318
O43491681869828828Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
O43491681869828828Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
O434916818698551005RegionNote=C-terminal (CTD)
O434916818698551005RegionNote=C-terminal (CTD)
O43491869910612943Alternative sequenceID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O43491869910612943Alternative sequenceID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O43491869910612869Alternative sequenceID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
O43491869910612869Alternative sequenceID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
O43491869910787869Alternative sequenceID=VSP_047182;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491869910787869Alternative sequenceID=VSP_047182;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O4349186991021005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O4349186991021005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O434918699108551005RegionNote=C-terminal (CTD)
O434918699108551005RegionNote=C-terminal (CTD)
O43491910943612943Alternative sequenceID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O43491910943612943Alternative sequenceID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O4349191094321005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O4349191094321005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O434919109438551005RegionNote=C-terminal (CTD)
O434919109438551005RegionNote=C-terminal (CTD)
O43491970100621005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O4349197010068551005RegionNote=C-terminal (CTD)


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
O4349116423521005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O4349116423521005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491164235218499DomainNote=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084
O43491164235218499DomainNote=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084
O43491164235170170Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
O43491164235170170Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
O43491164235208208Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O70318
O43491164235208208Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O70318
O4349123527021005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O4349123527021005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491235270218499DomainNote=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084
O43491235270218499DomainNote=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084
O43491611632612943Alternative sequenceID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O43491611632612943Alternative sequenceID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O43491611632612869Alternative sequenceID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
O43491611632612869Alternative sequenceID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
O43491611632612681Alternative sequenceID=VSP_047181;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491611632612681Alternative sequenceID=VSP_047181;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O4349161163221005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O4349161163221005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491611632614614Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:18669648,PMID:23186163
O43491611632614614Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:18669648,PMID:23186163
O43491611632623623Modified residueNote=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O70318
O43491611632623623Modified residueNote=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O70318
O43491611632627627Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O70318
O43491611632627627Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O70318
O43491611632611676RegionNote=Spectrin--actin-binding
O43491611632611676RegionNote=Spectrin--actin-binding
O43491632681612943Alternative sequenceID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O43491632681612943Alternative sequenceID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O43491632681612869Alternative sequenceID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
O43491632681612869Alternative sequenceID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
O43491632681612681Alternative sequenceID=VSP_047181;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491632681612681Alternative sequenceID=VSP_047181;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O4349163268121005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O4349163268121005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491632681647647Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
O43491632681647647Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
O43491632681611676RegionNote=Spectrin--actin-binding
O43491632681611676RegionNote=Spectrin--actin-binding
O43491681869612943Alternative sequenceID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O43491681869612943Alternative sequenceID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O43491681869612869Alternative sequenceID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
O43491681869612869Alternative sequenceID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
O43491681869612681Alternative sequenceID=VSP_047181;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491681869612681Alternative sequenceID=VSP_047181;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491681869787869Alternative sequenceID=VSP_047182;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491681869787869Alternative sequenceID=VSP_047182;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O4349168186921005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O4349168186921005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O43491681869715715Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163,PMID
O43491681869715715Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163,PMID
O43491681869718718Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
O43491681869718718Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:20068231,PMID:23186163
O43491681869763763Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O70318
O43491681869763763Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O70318
O43491681869828828Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
O43491681869828828Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
O434916818698551005RegionNote=C-terminal (CTD)
O434916818698551005RegionNote=C-terminal (CTD)
O43491869910612943Alternative sequenceID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O43491869910612943Alternative sequenceID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O43491869910612869Alternative sequenceID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
O43491869910612869Alternative sequenceID=VSP_045090;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
O43491869910787869Alternative sequenceID=VSP_047182;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O43491869910787869Alternative sequenceID=VSP_047182;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
O4349186991021005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O4349186991021005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O434918699108551005RegionNote=C-terminal (CTD)
O434918699108551005RegionNote=C-terminal (CTD)
O43491910943612943Alternative sequenceID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O43491910943612943Alternative sequenceID=VSP_042910;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O4349191094321005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O4349191094321005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O434919109438551005RegionNote=C-terminal (CTD)
O434919109438551005RegionNote=C-terminal (CTD)
O43491970100621005ChainID=PRO_0000219397;Note=Band 4.1-like protein 2
O4349197010068551005RegionNote=C-terminal (CTD)


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SNVs in the skipped exons for EPB41L2

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_462259
exon_skip_462258
exon_skip_462261
131188599131188721131188622131188622Frame_Shift_DelT-p.T903fs
LIHCTCGA-DD-A1EG-01exon_skip_462259
exon_skip_462258
exon_skip_462261
131188599131188721131188706131188706Frame_Shift_DelT-p.T875fs
LIHCTCGA-G3-A3CJ-01exon_skip_462304
131199244131199390131199285131199285Frame_Shift_DelC-p.E668fs
LIHCTCGA-DD-A3A0-01exon_skip_462332
131276245131276457131276376131276376Frame_Shift_DelT-p.R192fs
HNSCTCGA-F7-A50I-01exon_skip_462276
exon_skip_462277
131190703131191266131190864131190864Nonsense_MutationCAp.E816*
SARCTCGA-DX-A48K-01exon_skip_462304
131199244131199390131199287131199287Nonsense_MutationCTp.W667*
STADTCGA-BR-4256-01exon_skip_462331
131247745131247849131247750131247750Nonsense_MutationGAp.Q269X
LUADTCGA-38-4631-01exon_skip_462331
131247745131247849131247753131247753Nonsense_MutationCAp.E268*
LUSCTCGA-60-2708-01exon_skip_462332
131276245131276457131276358131276358Nonsense_MutationGAp.Q198*
PAADTCGA-IB-7651-01exon_skip_462332
131276245131276457131276458131276458Splice_SiteCT.

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
MERO14_LUNG131179276131179383131179351131179352Frame_Shift_DelCT-p.E981fs
MERO14_LUNG131179271131179383131179351131179352Frame_Shift_DelCT-p.E981fs
HEC6_ENDOMETRIUM131186676131186774131186762131186762Frame_Shift_DelC-p.A915fs
BICR18_UPPER_AERODIGESTIVE_TRACT131190703131191266131190766131190767Frame_Shift_DelTT-p.K848fs
BICR18_UPPER_AERODIGESTIVE_TRACT131199244131199390131199316131199317Frame_Shift_DelTT-p.E657fs
BICR18_UPPER_AERODIGESTIVE_TRACT131190703131191266131190772131190773Frame_Shift_Ins-GCp.P846fs
BICR18_UPPER_AERODIGESTIVE_TRACT131199244131199390131199318131199319Frame_Shift_Ins-GTp.E657fs
BICR18_UPPER_AERODIGESTIVE_TRACT131190952131191266131191055131191057In_Frame_DelTCT-p.E751del
BICR18_UPPER_AERODIGESTIVE_TRACT131190703131191266131191055131191057In_Frame_DelTCT-p.E751del
UMUC1_URINARY_TRACT131190952131191266131191072131191073In_Frame_Ins-CTGp.746_746S>SS
UMUC1_URINARY_TRACT131190703131191266131191072131191073In_Frame_Ins-CTGp.746_746S>SS
SKUT1_SOFT_TISSUE131190952131191266131191072131191073In_Frame_Ins-CTGp.746_746S>SS
SKUT1_SOFT_TISSUE131190703131191266131191072131191073In_Frame_Ins-CTGp.746_746S>SS
WM1552C_SKIN131179276131179383131179291131179291Missense_MutationCAp.E1001D
WM1552C_SKIN131179271131179383131179291131179291Missense_MutationCAp.E1001D
NCIH2087_LUNG131186676131186774131186692131186692Missense_MutationGTp.T938N
BICR18_UPPER_AERODIGESTIVE_TRACT131186676131186774131186707131186707Missense_MutationAGp.V933A
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE131186676131186774131186707131186707Missense_MutationAGp.V933A
BICR18_UPPER_AERODIGESTIVE_TRACT131186676131186774131186743131186744Missense_MutationGTACp.T921V
SCABER_URINARY_TRACT131186676131186774131186743131186743Missense_MutationGAp.T921M
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE131186676131186774131186743131186744Missense_MutationGTACp.T921V
BICR18_UPPER_AERODIGESTIVE_TRACT131186676131186774131186743131186743Missense_MutationGAp.T921M
BICR18_UPPER_AERODIGESTIVE_TRACT131186676131186774131186744131186744Missense_MutationTCp.T921A
COLO824_BREAST131188599131188721131188657131188657Missense_MutationGTp.T891N
UMUC5_URINARY_TRACT131188599131188721131188703131188703Missense_MutationCGp.E876Q
JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE131190703131191266131190756131190756Missense_MutationCTp.E852K
KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE131190703131191266131190758131190758Missense_MutationCTp.G851E
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE131190703131191266131190804131190804Missense_MutationGCp.Q836E
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE131190703131191266131190813131190813Missense_MutationCTp.A833T
EWS502_BONE131190952131191266131191011131191011Missense_MutationTCp.I767V
EWS502_BONE131190703131191266131191011131191011Missense_MutationTCp.I767V
LOVO_LARGE_INTESTINE131190952131191266131191053131191053Missense_MutationCTp.V753M
LOVO_LARGE_INTESTINE131190703131191266131191053131191053Missense_MutationCTp.V753M
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE131190952131191266131191117131191117Missense_MutationTGp.Q731H
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE131190703131191266131191117131191117Missense_MutationTGp.Q731H
BICR18_UPPER_AERODIGESTIVE_TRACT131190952131191266131191117131191117Missense_MutationTGp.Q731H
BICR18_UPPER_AERODIGESTIVE_TRACT131190703131191266131191117131191117Missense_MutationTGp.Q731H
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE131190952131191266131191122131191122Missense_MutationTCp.T730A
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE131190703131191266131191122131191122Missense_MutationTCp.T730A
BICR18_UPPER_AERODIGESTIVE_TRACT131190952131191266131191122131191122Missense_MutationTCp.T730A
BICR18_UPPER_AERODIGESTIVE_TRACT131190703131191266131191122131191122Missense_MutationTCp.T730A
BICR18_UPPER_AERODIGESTIVE_TRACT131190952131191266131191201131191201Missense_MutationTGp.R703S
BICR18_UPPER_AERODIGESTIVE_TRACT131190703131191266131191201131191201Missense_MutationTGp.R703S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE131190952131191266131191201131191201Missense_MutationTGp.R703S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE131190703131191266131191201131191201Missense_MutationTGp.R703S
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE131190952131191266131191201131191201Missense_MutationTGp.R703S
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE131190703131191266131191201131191201Missense_MutationTGp.R703S
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE131190952131191266131191206131191206Missense_MutationCTp.E702K
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE131190703131191266131191206131191206Missense_MutationCTp.E702K
BICR18_UPPER_AERODIGESTIVE_TRACT131190952131191266131191245131191245Missense_MutationTCp.I689V
BICR18_UPPER_AERODIGESTIVE_TRACT131190703131191266131191245131191245Missense_MutationTCp.I689V
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE131190952131191266131191245131191245Missense_MutationTCp.I689V
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE131190703131191266131191245131191245Missense_MutationTCp.I689V
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE131190952131191266131191245131191245Missense_MutationTCp.I689V
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE131190703131191266131191245131191245Missense_MutationTCp.I689V
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE131190952131191266131191245131191245Missense_MutationTCp.I689V
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE131190703131191266131191245131191245Missense_MutationTCp.I689V
SNUC2A_LARGE_INTESTINE131190952131191266131191259131191259Missense_MutationTGp.H684P
SNUC2A_LARGE_INTESTINE131190703131191266131191259131191259Missense_MutationTGp.H684P
KMH2_THYROID131199244131199390131199275131199275Missense_MutationCTp.R671H
MEWO_SKIN131199244131199390131199319131199319Missense_MutationCTp.M656I
HS746T_STOMACH131199244131199390131199347131199347Missense_MutationCAp.S647I
HEC108_ENDOMETRIUM131199244131199390131199365131199365Missense_MutationAGp.I641T
BICR18_UPPER_AERODIGESTIVE_TRACT131199244131199390131199368131199368Missense_MutationTGp.D640A
BICR18_UPPER_AERODIGESTIVE_TRACT131199244131199390131199388131199388Missense_MutationTGp.E633D
TE4_OESOPHAGUS131201284131201346131201324131201324Missense_MutationCAp.G619V
HEC108_ENDOMETRIUM131201284131201346131201326131201326Missense_MutationTGp.E618D
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE131201284131201346131201326131201326Missense_MutationTGp.E618D
BICR18_UPPER_AERODIGESTIVE_TRACT131201284131201346131201326131201326Missense_MutationTGp.E618D
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE131201284131201346131201340131201340Missense_MutationATp.S614T
FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE131276245131276457131276354131276354Missense_MutationGTp.T199N
KARPAS422_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE131276245131276457131276387131276387Missense_MutationCTp.G188E
MDST8_LARGE_INTESTINE131276245131276457131276432131276432Missense_MutationCTp.R173K
2313287_STOMACH131188599131188721131188720131188720Splice_SiteGAp.P870L

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EPB41L2

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_4622766131188598:131188721:131190702:131191266:131199243:131199354131190702:131191266ENST00000368128.2,ENST00000524581.1,ENST00000337057.3GBMrs17059736chr6:131190838C/T1.08e-04
exon_skip_4622766131188598:131188721:131190702:131191266:131199243:131199354131190702:131191266ENST00000368128.2,ENST00000524581.1,ENST00000337057.3GBMrs17059736chr6:131190838C/T3.70e-04
exon_skip_4622766131188598:131188721:131190702:131191266:131199243:131199354131190702:131191266ENST00000368128.2,ENST00000524581.1,ENST00000337057.3BRCArs17059736chr6:131190838C/T7.63e-06
exon_skip_4622766131188598:131188721:131190702:131191266:131199243:131199354131190702:131191266ENST00000368128.2,ENST00000524581.1,ENST00000337057.3LGGrs17059736chr6:131190838C/T1.94e-06
exon_skip_4622766131188598:131188721:131190702:131191266:131199243:131199354131190702:131191266ENST00000368128.2,ENST00000524581.1,ENST00000337057.3LGGrs17059736chr6:131190838C/T9.01e-05
exon_skip_4622766131188598:131188721:131190702:131191266:131199243:131199354131190702:131191266ENST00000368128.2,ENST00000524581.1,ENST00000337057.3LGGrs17059736chr6:131190838C/T6.37e-04
exon_skip_4622766131188598:131188721:131190702:131191266:131199243:131199354131190702:131191266ENST00000368128.2,ENST00000524581.1,ENST00000337057.3LUADrs17059736chr6:131190838C/T1.12e-03
exon_skip_4622766131188598:131188721:131190702:131191266:131199243:131199354131190702:131191266ENST00000368128.2,ENST00000524581.1,ENST00000337057.3OVrs17059736chr6:131190838C/T1.40e-03
exon_skip_4622776131188598:131188721:131190702:131191266:131206235:131206408131190702:131191266ENST00000529208.1,ENST00000527411.1GBMrs17059736chr6:131190838C/T1.08e-04
exon_skip_4622776131188598:131188721:131190702:131191266:131206235:131206408131190702:131191266ENST00000529208.1,ENST00000527411.1GBMrs17059736chr6:131190838C/T3.70e-04
exon_skip_4622776131188598:131188721:131190702:131191266:131206235:131206408131190702:131191266ENST00000529208.1,ENST00000527411.1BRCArs17059736chr6:131190838C/T7.63e-06
exon_skip_4622776131188598:131188721:131190702:131191266:131206235:131206408131190702:131191266ENST00000529208.1,ENST00000527411.1LGGrs17059736chr6:131190838C/T1.94e-06
exon_skip_4622776131188598:131188721:131190702:131191266:131206235:131206408131190702:131191266ENST00000529208.1,ENST00000527411.1LGGrs17059736chr6:131190838C/T9.01e-05
exon_skip_4622776131188598:131188721:131190702:131191266:131206235:131206408131190702:131191266ENST00000529208.1,ENST00000527411.1LGGrs17059736chr6:131190838C/T6.37e-04
exon_skip_4622776131188598:131188721:131190702:131191266:131206235:131206408131190702:131191266ENST00000529208.1,ENST00000527411.1LUADrs17059736chr6:131190838C/T1.12e-03
exon_skip_4622776131188598:131188721:131190702:131191266:131206235:131206408131190702:131191266ENST00000529208.1,ENST00000527411.1OVrs17059736chr6:131190838C/T1.40e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EPB41L2


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EPB41L2


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RelatedDrugs for EPB41L2

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 EPB41L2

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
EPB41L2C0023893Liver Cirrhosis, Experimental1CTD_human