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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 HMCN1

check button Gene summary
Gene informationGene symbol

HMCN1

Gene ID

83872

Gene namehemicentin 1
SynonymsARMD1|FBLN6|FIBL-6|FIBL6
Cytomap

1q25.3-q31.1

Type of geneprotein-coding
Descriptionhemicentin-1LOC100507250/HMCN1 fusionfibulin-6
Modification date20180523
UniProtAcc

Q96RW7

ContextPubMed: HMCN1 [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 HMCN1 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 HMCN1

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 HMCN1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_148601185958619:185958779:185959406:185959575:185962313:185962441185959406:185959575ENSG00000143341.7ENST00000485744.1,ENST00000271588.4,ENST00000367492.2
exon_skip_148621185976259:185976414:185984290:185984569:185985089:185985371185984290:185984569ENSG00000143341.7ENST00000271588.4,ENST00000367492.2
exon_skip_148631186043872:186044023:186045559:186045754:186047238:186047352186045559:186045754ENSG00000143341.7ENST00000271588.4,ENST00000367492.2
exon_skip_148651186056574:186056777:186057063:186057145:186057276:186057408186057063:186057145ENSG00000143341.7ENST00000271588.4,ENST00000367492.2
exon_skip_148661186062617:186062801:186063407:186063505:186064374:186064653186063407:186063505ENSG00000143341.7ENST00000271588.4,ENST00000367492.2
exon_skip_148681186086125:186086247:186086590:186086755:186088322:186088430186086590:186086755ENSG00000143341.7ENST00000271588.4,ENST00000367492.2
exon_skip_148691186092082:186092352:186094735:186094926:186097209:186097423186094735:186094926ENSG00000143341.7ENST00000271588.4,ENST00000367492.2
exon_skip_148721186094735:186094926:186097209:186097423:186099097:186099232186097209:186097423ENSG00000143341.7ENST00000271588.4,ENST00000367492.2
exon_skip_148731186099638:186099829:186101459:186101541:186105799:186106069186101459:186101541ENSG00000143341.7ENST00000271588.4,ENST00000367492.2
exon_skip_148741186101459:186101541:186105799:186106069:186106629:186106800186105799:186106069ENSG00000143341.7ENST00000271588.4,ENST00000367492.2
exon_skip_148751186122957:186123119:186134242:186134305:186135315:186135435186134242:186134305ENSG00000143341.7ENST00000271588.4,ENST00000367492.2
exon_skip_148781186134245:186134305:186135315:186135435:186135939:186136074186135315:186135435ENSG00000143341.7ENST00000271588.4,ENST00000367492.2
exon_skip_148801186135315:186135435:186135939:186136074:186140468:186140582186135939:186136074ENSG00000143341.7ENST00000271588.4,ENST00000367492.2
exon_skip_148811186141137:186141263:186143645:186143774:186151299:186151419186143645:186143774ENSG00000143341.7ENST00000367492.2,ENST00000414277.1
exon_skip_148851186143645:186143774:186147547:186147898:186151299:186151419186147547:186147898ENSG00000143341.7ENST00000271588.4
exon_skip_148881186151299:186151419:186157014:186157141:186158643:186158797186157014:186157141ENSG00000143341.7ENST00000271588.4,ENST00000367492.2,ENST00000414277.1

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

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Exon skipping events with PSIs in GTEx for HMCN1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_148601185958619:185958779:185959406:185959575:185962313:185962441185959406:185959575ENSG00000143341.7ENST00000271588.4,ENST00000367492.2,ENST00000485744.1
exon_skip_148621185976259:185976414:185984290:185984569:185985089:185985371185984290:185984569ENSG00000143341.7ENST00000271588.4,ENST00000367492.2
exon_skip_148631186043872:186044023:186045559:186045754:186047238:186047352186045559:186045754ENSG00000143341.7ENST00000271588.4,ENST00000367492.2
exon_skip_148651186056574:186056777:186057063:186057145:186057276:186057408186057063:186057145ENSG00000143341.7ENST00000271588.4,ENST00000367492.2
exon_skip_148661186062617:186062801:186063407:186063505:186064374:186064653186063407:186063505ENSG00000143341.7ENST00000271588.4,ENST00000367492.2
exon_skip_148681186086125:186086247:186086590:186086755:186088322:186088430186086590:186086755ENSG00000143341.7ENST00000271588.4,ENST00000367492.2
exon_skip_148691186092082:186092352:186094735:186094926:186097209:186097423186094735:186094926ENSG00000143341.7ENST00000271588.4,ENST00000367492.2
exon_skip_148721186094735:186094926:186097209:186097423:186099097:186099232186097209:186097423ENSG00000143341.7ENST00000271588.4,ENST00000367492.2
exon_skip_148731186099638:186099829:186101459:186101541:186105799:186106069186101459:186101541ENSG00000143341.7ENST00000271588.4,ENST00000367492.2
exon_skip_148741186101459:186101541:186105799:186106069:186106629:186106800186105799:186106069ENSG00000143341.7ENST00000271588.4,ENST00000367492.2
exon_skip_148751186122957:186123119:186134242:186134305:186135315:186135435186134242:186134305ENSG00000143341.7ENST00000271588.4,ENST00000367492.2
exon_skip_148781186134245:186134305:186135315:186135435:186135939:186136074186135315:186135435ENSG00000143341.7ENST00000271588.4,ENST00000367492.2
exon_skip_148801186135315:186135435:186135939:186136074:186140468:186140582186135939:186136074ENSG00000143341.7ENST00000271588.4,ENST00000367492.2
exon_skip_148811186141137:186141263:186143645:186143774:186151299:186151419186143645:186143774ENSG00000143341.7ENST00000367492.2,ENST00000414277.1
exon_skip_148851186143645:186143774:186147547:186147898:186151299:186151419186147547:186147898ENSG00000143341.7ENST00000271588.4
exon_skip_148881186151299:186151419:186157014:186157141:186158643:186158797186157014:186157141ENSG00000143341.7ENST00000271588.4,ENST00000367492.2,ENST00000414277.1

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 HMCN1

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
ENST00000271588185959406185959575Frame-shift
ENST00000271588186057063186057145Frame-shift
ENST00000271588186063407186063505Frame-shift
ENST00000271588186094735186094926Frame-shift
ENST00000271588186097209186097423Frame-shift
ENST00000271588186101459186101541Frame-shift
ENST00000271588186157014186157141Frame-shift
ENST00000271588185984290185984569In-frame
ENST00000271588186045559186045754In-frame
ENST00000271588186086590186086755In-frame
ENST00000271588186105799186106069In-frame
ENST00000271588186134242186134305In-frame
ENST00000271588186135315186135435In-frame
ENST00000271588186135939186136074In-frame
ENST00000271588186147547186147898In-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
ENST00000271588185959406185959575Frame-shift
ENST00000271588186057063186057145Frame-shift
ENST00000271588186063407186063505Frame-shift
ENST00000271588186094735186094926Frame-shift
ENST00000271588186097209186097423Frame-shift
ENST00000271588186101459186101541Frame-shift
ENST00000271588186157014186157141Frame-shift
ENST00000271588185984290185984569In-frame
ENST00000271588186045559186045754In-frame
ENST00000271588186086590186086755In-frame
ENST00000271588186105799186106069In-frame
ENST00000271588186134242186134305In-frame
ENST00000271588186135315186135435In-frame
ENST00000271588186135939186136074In-frame
ENST00000271588186147547186147898In-frame

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Infer the effects of exon skipping event on protein functional features for HMCN1

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
ENST000002715881822556351859842901859845694860513815431636
ENST000002715881822556351860455591860457548520871427632828
ENST00000271588182255635186086590186086755119131207738943949
ENST00000271588182255635186105799186106069135421381144374527
ENST00000271588182255635186134242186134305154861554850855106
ENST00000271588182255635186135315186135435155491566851065146
ENST00000271588182255635186135939186136074156691580351465191
ENST00000271588182255635186147547186147898161731652353145431

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
ENST000002715881822556351859842901859845694860513815431636
ENST000002715881822556351860455591860457548520871427632828
ENST00000271588182255635186086590186086755119131207738943949
ENST00000271588182255635186105799186106069135421381144374527
ENST00000271588182255635186134242186134305154861554850855106
ENST00000271588182255635186135315186135435155491566851065146
ENST00000271588182255635186135939186136074156691580351465191
ENST00000271588182255635186147547186147898161731652353145431

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
Q96RW71543163611725635Alternative sequenceID=VSP_016873;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q96RW715431636225635ChainID=PRO_0000045391;Note=Hemicentin-1
Q96RW71543163615691618Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q96RW71543163615461634DomainNote=Ig-like C2-type 13
Q96RW71543163615521552GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96RW71543163616241624Natural variantID=VAR_024811;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14570714;Dbxref=PMID:14570714
Q96RW71543163615701570Sequence conflictNote=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96RW72763282811725635Alternative sequenceID=VSP_016873;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q96RW727632828225635ChainID=PRO_0000045391;Note=Hemicentin-1
Q96RW72763282827992848Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q96RW72763282826662763DomainNote=Ig-like C2-type 25
Q96RW72763282827662864DomainNote=Ig-like C2-type 26
Q96RW73894394911725635Alternative sequenceID=VSP_016873;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q96RW738943949225635ChainID=PRO_0000045391;Note=Hemicentin-1
Q96RW73894394939183967Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q96RW73894394938973983DomainNote=Ig-like C2-type 38
Q96RW74437452711725635Alternative sequenceID=VSP_016873;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q96RW744374527225635ChainID=PRO_0000045391;Note=Hemicentin-1
Q96RW74437452744614509Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q96RW74437452744404527DomainNote=Ig-like C2-type 44
Q96RW74437452744914491GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96RW74437452744374437Natural variantID=VAR_049877;Note=Q->R;Dbxref=dbSNP:rs10911825
Q96RW75085510611725635Alternative sequenceID=VSP_016873;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q96RW750855106225635ChainID=PRO_0000045391;Note=Hemicentin-1
Q96RW75085510648715093DomainNote=Nidogen G2 beta-barrel;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00348
Q96RW75085510650875087Natural variantID=VAR_024817;Note=D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14570714;Dbxref=dbSNP:rs41317507,PMID:14570714
Q96RW75106514611725635Alternative sequenceID=VSP_016873;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q96RW751065146225635ChainID=PRO_0000045391;Note=Hemicentin-1
Q96RW75106514651115121Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q96RW75106514651175130Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q96RW75106514651325145Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q96RW75106514651075146DomainNote=EGF-like 1%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q96RW75146519111725635Alternative sequenceID=VSP_016873;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q96RW751465191225635ChainID=PRO_0000045391;Note=Hemicentin-1
Q96RW75146519151075146DomainNote=EGF-like 1%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q96RW75146519151475191DomainNote=EGF-like 2%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q96RW75314543111725635Alternative sequenceID=VSP_016873;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q96RW75314543153155431Alternative sequenceID=VSP_016874;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96RW753145431225635ChainID=PRO_0000045391;Note=Hemicentin-1
Q96RW75314543153195330Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q96RW75314543153265339Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q96RW75314543153415354Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q96RW75314543153155355DomainNote=EGF-like 6%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q96RW75314543153455345Natural variantID=VAR_024818;Note=In ARMD1. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14570714;Dbxref=dbSNP:rs121434382,PMID:14570714
Q96RW75314543153175317Sequence conflictNote=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305


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
Q96RW71543163611725635Alternative sequenceID=VSP_016873;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q96RW715431636225635ChainID=PRO_0000045391;Note=Hemicentin-1
Q96RW71543163615691618Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q96RW71543163615461634DomainNote=Ig-like C2-type 13
Q96RW71543163615521552GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96RW71543163616241624Natural variantID=VAR_024811;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14570714;Dbxref=PMID:14570714
Q96RW71543163615701570Sequence conflictNote=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96RW72763282811725635Alternative sequenceID=VSP_016873;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q96RW727632828225635ChainID=PRO_0000045391;Note=Hemicentin-1
Q96RW72763282827992848Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q96RW72763282826662763DomainNote=Ig-like C2-type 25
Q96RW72763282827662864DomainNote=Ig-like C2-type 26
Q96RW73894394911725635Alternative sequenceID=VSP_016873;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q96RW738943949225635ChainID=PRO_0000045391;Note=Hemicentin-1
Q96RW73894394939183967Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q96RW73894394938973983DomainNote=Ig-like C2-type 38
Q96RW74437452711725635Alternative sequenceID=VSP_016873;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q96RW744374527225635ChainID=PRO_0000045391;Note=Hemicentin-1
Q96RW74437452744614509Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q96RW74437452744404527DomainNote=Ig-like C2-type 44
Q96RW74437452744914491GlycosylationNote=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96RW74437452744374437Natural variantID=VAR_049877;Note=Q->R;Dbxref=dbSNP:rs10911825
Q96RW75085510611725635Alternative sequenceID=VSP_016873;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q96RW750855106225635ChainID=PRO_0000045391;Note=Hemicentin-1
Q96RW75085510648715093DomainNote=Nidogen G2 beta-barrel;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00348
Q96RW75085510650875087Natural variantID=VAR_024817;Note=D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14570714;Dbxref=dbSNP:rs41317507,PMID:14570714
Q96RW75106514611725635Alternative sequenceID=VSP_016873;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q96RW751065146225635ChainID=PRO_0000045391;Note=Hemicentin-1
Q96RW75106514651115121Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q96RW75106514651175130Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q96RW75106514651325145Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q96RW75106514651075146DomainNote=EGF-like 1%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q96RW75146519111725635Alternative sequenceID=VSP_016873;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q96RW751465191225635ChainID=PRO_0000045391;Note=Hemicentin-1
Q96RW75146519151075146DomainNote=EGF-like 1%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q96RW75146519151475191DomainNote=EGF-like 2%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q96RW75314543111725635Alternative sequenceID=VSP_016873;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q96RW75314543153155431Alternative sequenceID=VSP_016874;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96RW753145431225635ChainID=PRO_0000045391;Note=Hemicentin-1
Q96RW75314543153195330Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q96RW75314543153265339Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q96RW75314543153415354Disulfide bondOntology_term=ECO:0000250;evidence=ECO:0000250
Q96RW75314543153155355DomainNote=EGF-like 6%3B calcium-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076
Q96RW75314543153455345Natural variantID=VAR_024818;Note=In ARMD1. Q->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14570714;Dbxref=dbSNP:rs121434382,PMID:14570714
Q96RW75314543153175317Sequence conflictNote=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305


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SNVs in the skipped exons for HMCN1

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-DD-A1EG-01exon_skip_14863
186045560186045754186045649186045649Frame_Shift_DelC-p.P2794fs
LIHCTCGA-DD-A39Y-01exon_skip_14866
186063408186063505186063469186063469Frame_Shift_DelG-p.G3420fs
LIHCTCGA-G3-A3CJ-01exon_skip_14868
186086591186086755186086642186086642Frame_Shift_DelC-p.A3912fs
LIHCTCGA-DD-A3A0-01exon_skip_14868
186086591186086755186086701186086701Frame_Shift_DelA-p.K3932fs
LIHCTCGA-G3-A3CJ-01exon_skip_14868
186086591186086755186086701186086701Frame_Shift_DelA-p.K3932fs
STADTCGA-BR-8081-01exon_skip_14868
186086591186086755186086701186086701Frame_Shift_DelA-p.T3931fs
STADTCGA-BR-4361-01exon_skip_14869
186094736186094926186094843186094843Frame_Shift_DelA-p.K4203fs
STADTCGA-BR-4361-01exon_skip_14869
186094736186094926186094843186094843Frame_Shift_DelA-p.W4202X
UCECTCGA-AX-A063-01exon_skip_14872
186097210186097423186097264186097265Frame_Shift_DelAC-p.T4251fs
LIHCTCGA-G3-A3CJ-01exon_skip_14875
186134243186134305186134295186134295Frame_Shift_DelT-p.P5103fs
LIHCTCGA-G3-A3CJ-01exon_skip_14878
186135316186135435186135371186135371Frame_Shift_DelG-p.M5125fs
LIHCTCGA-DD-AAEG-01exon_skip_14880
186135940186136074186136049186136049Frame_Shift_DelA-p.R5183fs
LIHCTCGA-DD-A39Y-01exon_skip_14885
186147548186147898186147602186147602Frame_Shift_DelC-p.T5333fs
LIHCTCGA-DD-A39Y-01exon_skip_14888
186157015186157141186157053186157053Frame_Shift_DelC-p.P5485fs
ESCATCGA-L5-A4OJ-01exon_skip_14869
186094736186094926186094842186094843Frame_Shift_Ins-Ap.*K4202fs
ESCATCGA-L5-A4OJ-01exon_skip_14869
186094736186094926186094842186094843Frame_Shift_Ins-Ap.D4204fs
ESCATCGA-L5-A4OJ-01exon_skip_14869
186094736186094926186094842186094843Frame_Shift_Ins-Ap.W4202fs
LUSCTCGA-18-3406-01exon_skip_14860
185959407185959575185959424185959424Nonsense_MutationGTp.G1076*
UCECTCGA-BS-A0UF-01exon_skip_14862
185984291185984569185984479185984479Nonsense_MutationCTp.R1607*
LUADTCGA-50-6597-01exon_skip_14865
186057064186057145186057109186057109Nonsense_MutationGTp.G3137*
ESCATCGA-V5-AASX-01exon_skip_14872
186097210186097423186097328186097328Nonsense_MutationCAp.S4270*
ESCATCGA-V5-AASX-01exon_skip_14872
186097210186097423186097328186097328Nonsense_MutationCAp.S4270X
READTCGA-AG-A002-01exon_skip_14872
186097210186097423186097328186097328Nonsense_MutationCAp.S4270X
STADTCGA-RD-A8N5-01exon_skip_14872
186097210186097423186097351186097351Nonsense_MutationCTp.R4278*
STADTCGA-BR-4368-01186105800186106069186106003186106003Nonsense_MutationGTp.E4506*
STADTCGA-BR-4368-01186105800186106069186106003186106003Nonsense_MutationGTp.E4506X
HNSCTCGA-CQ-6224-01186105800186106069186106021186106021Nonsense_MutationCTp.R4512*
SKCMTCGA-RP-A694-06186105800186106069186106021186106021Nonsense_MutationCTp.R4512*
SKCMTCGA-RP-A694-06186105800186106069186106021186106021Nonsense_MutationCTp.R4512X
LIHCTCGA-WQ-A9G7-01exon_skip_14878
186135316186135435186135392186135392Nonsense_MutationCAp.C5132X
STADTCGA-HU-A4H8-01exon_skip_14885
186147548186147898186147634186147634Nonsense_MutationGTp.G5344*
KIRPTCGA-BQ-5876-01exon_skip_14862
185984291185984569185984290185984290Splice_SiteGA.
KIRPTCGA-BQ-5876-01exon_skip_14862
185984291185984569185984290185984290Splice_SiteGAp.I1544_splice
STADTCGA-VQ-A8P2-01exon_skip_14872
186097210186097423186097424186097424Splice_SiteGA.
UCECTCGA-D1-A103-01exon_skip_14875
186134243186134305186134306186134306Splice_SiteGAe98+1
UCECTCGA-AP-A056-01exon_skip_14881
186143646186143774186143645186143645Splice_SiteGTe103-1
STADTCGA-FP-7998-01exon_skip_14888
186157015186157141186157143186157143Splice_SiteTCp.G5514_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
JMSU1_URINARY_TRACT186094736186094926186094843186094843Frame_Shift_DelA-p.K4204fs
RKO_LARGE_INTESTINE186134243186134305186134295186134295Frame_Shift_DelT-p.P5103fs
GP2D_LARGE_INTESTINE185959407185959575185959470185959470Missense_MutationTCp.V1091A
NCIH1963_LUNG185959407185959575185959512185959512Missense_MutationGAp.S1105N
AN3CA_ENDOMETRIUM185959407185959575185959556185959556Missense_MutationAGp.I1120V
PLCPRF5_LIVER185984291185984569185984467185984467Missense_MutationCAp.L1603I
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE185984291185984569185984510185984510Missense_MutationCTp.T1617M
CALU1_LUNG186045560186045754186045677186045677Missense_MutationCTp.A2803V
HGC27_STOMACH186045560186045754186045682186045682Missense_MutationCTp.P2805S
SW684_SOFT_TISSUE186045560186045754186045718186045718Missense_MutationCTp.P2817S
JHH2_LIVER186057064186057145186057112186057112Missense_MutationCGp.R3138G
SNU175_LARGE_INTESTINE186057064186057145186057113186057113Missense_MutationGAp.R3138Q
L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE186057064186057145186057140186057140Missense_MutationTAp.V3147E
EN_ENDOMETRIUM186086591186086755186086675186086675Missense_MutationTCp.V3923A
KMS34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE186086591186086755186086734186086734Missense_MutationGCp.G3943R
NCIH1092_LUNG186094736186094926186094745186094745Missense_MutationGCp.R4170T
SNU1040_LARGE_INTESTINE186094736186094926186094805186094805Missense_MutationGAp.C4190Y
HCC2998_LARGE_INTESTINE186094736186094926186094850186094850Missense_MutationAGp.D4205G
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE186094736186094926186094897186094897Missense_MutationTCp.Y4221H
MZ7MEL_SKIN186097210186097423186097232186097232Missense_MutationCTp.T4238I
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE186097210186097423186097276186097276Missense_MutationAGp.S4253G
MHHES1_BONE186097210186097423186097304186097304Missense_MutationTCp.F4262S
NCIH2227_LUNG186101460186101541186101514186101514Missense_MutationGCp.E4429Q
CCK81_LARGE_INTESTINE186101460186101541186101518186101518Missense_MutationGAp.R4430H
HA7RCC_KIDNEY186101460186101541186101523186101523Missense_MutationACp.M4432L
GDM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE186105800186106069186105823186105823Missense_MutationCAp.P4446T
NCIH510_LUNG186105800186106069186105893186105893Missense_MutationCAp.P4469Q
HEC151_ENDOMETRIUM186105800186106069186105911186105911Missense_MutationGAp.R4475H
TC71_BONE186105800186106069186106030186106030Missense_MutationACp.M4515L
NCIH526_LUNG186134243186134305186134270186134270Missense_MutationGAp.G5095E
SNU175_LARGE_INTESTINE186134243186134305186134287186134287Missense_MutationGAp.V5101I
ONS76_CENTRAL_NERVOUS_SYSTEM186134243186134305186134296186134296Missense_MutationTAp.F5104I
NCIH2286_LUNG186135316186135435186135356186135356Missense_MutationCAp.S5120R
SNU81_LARGE_INTESTINE186135316186135435186135424186135424Missense_MutationGTp.R5143I
VAL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE186135940186136074186135946186135946Missense_MutationACp.D5149A
647V_URINARY_TRACT186135940186136074186136032186136032Missense_MutationGAp.G5178R
NCIH1648_LUNG186135940186136074186136041186136041Missense_MutationTCp.F5181L
KARPAS384_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE186143646186143774186143699186143699Missense_MutationGAp.E5290K
CAL148_BREAST186143646186143774186143699186143699Missense_MutationGAp.E5290K
PANC0403_PANCREAS186143646186143774186143735186143735Missense_MutationAGp.R5302G
AGS_STOMACH186143646186143774186143735186143735Missense_MutationAGp.R5302G
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE186143646186143774186143765186143765Missense_MutationCTp.P5312S
SNU1040_LARGE_INTESTINE186143646186143774186143769186143769Missense_MutationGAp.C5313Y
PK1_PANCREAS186147548186147898186147558186147558Missense_MutationATp.E5318D
LS411N_LARGE_INTESTINE186147548186147898186147587186147587Missense_MutationAGp.H5328R
EFM19_BREAST186147548186147898186147635186147635Missense_MutationGAp.G5344E
HS606T_FIBROBLAST186147548186147898186147652186147652Missense_MutationGAp.D5350N
NCIH647_LUNG186147548186147898186147718186147718Missense_MutationCTp.L5372F
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE186147548186147898186147724186147724Missense_MutationCTp.R5374W
RPMI2650_UPPER_AERODIGESTIVE_TRACT186147548186147898186147734186147734Missense_MutationCTp.P5377L
SNU61_LARGE_INTESTINE186147548186147898186147746186147746Missense_MutationAGp.N5381S
GP2D_LARGE_INTESTINE186147548186147898186147796186147796Missense_MutationTAp.Y5398N
GP5D_LARGE_INTESTINE186147548186147898186147796186147796Missense_MutationTAp.Y5398N
NCIH929_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE186147548186147898186147841186147841Missense_MutationAGp.R5413G
YD38_UPPER_AERODIGESTIVE_TRACT186147548186147898186147878186147878Missense_MutationCAp.A5425E
NCIH716_LARGE_INTESTINE186147548186147898186147878186147878Missense_MutationCAp.A5425E
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE186147548186147898186147888186147888Missense_MutationCGp.D5428E
SW48_LARGE_INTESTINE186157015186157141186157020186157020Missense_MutationGAp.D5474N
NCIH1155_LUNG185984291185984569185984461185984461Nonsense_MutationCTp.Q1601*
AU565_BREAST186105800186106069186105820186105820Nonsense_MutationGTp.E4445*
LN18_CENTRAL_NERVOUS_SYSTEM186105800186106069186105991186105991Nonsense_MutationGTp.E4502*
NUGC3_STOMACH185959407185959575185959407185959407Splice_SiteTAp.V1070E
JHUEM2_ENDOMETRIUM186135316186135435186135435186135435Splice_SiteGTp.D5147Y
SNUC2A_LARGE_INTESTINE186135316186135435186135435186135435Splice_SiteGTp.D5147Y
SNUC2B_LARGE_INTESTINE186135316186135435186135435186135435Splice_SiteGTp.D5147Y
NB1_AUTONOMIC_GANGLIA186157015186157141186157140186157140Splice_SiteGTp.G5514W

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HMCN1

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HMCN1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HMCN1


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RelatedDrugs for HMCN1

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 HMCN1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
HMCN1C1864205Macular Degeneration, Age-Related, 11CTD_human;UNIPROT