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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 OBSCN

check button Gene summary
Gene informationGene symbol

OBSCN

Gene ID

84033

Gene nameobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
SynonymsARHGEF30|UNC89
Cytomap

1q42.13

Type of geneprotein-coding
Descriptionobscurinobscurin, myosin light chain kinaseobscurin-MLCK
Modification date20180519
UniProtAcc

Q5VST9

ContextPubMed: OBSCN [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 OBSCN 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 OBSCN

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 OBSCN

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_190561228401141:228401411:228401874:228402135:228402490:228402799228401874:228402135ENSG00000154358.15ENST00000366709.4,ENST00000570156.2,ENST00000284548.11,ENST00000366707.4,ENST00000422127.1
exon_skip_190611228403389:228403530:228404121:228404403:228404713:228404989228404121:228404403ENSG00000154358.15ENST00000366709.4,ENST00000570156.2,ENST00000284548.11,ENST00000366707.4,ENST00000422127.1,ENST00000493977.1
exon_skip_190631228404713:228404989:228407024:228407300:228412159:228412435228407024:228407300ENSG00000154358.15ENST00000570156.2
exon_skip_190651228404713:228404989:228412159:228412435:228430883:228431159228412159:228412435ENSG00000154358.15ENST00000366709.4,ENST00000284548.11,ENST00000366707.4,ENST00000422127.1
exon_skip_190661228407024:228407300:228412159:228412435:228430883:228431159228412159:228412435ENSG00000154358.15ENST00000570156.2
exon_skip_190681228433113:228433389:228434228:228434504:228437665:228437941228434228:228434504ENSG00000154358.15ENST00000366709.4,ENST00000570156.2,ENST00000284548.11,ENST00000366707.4,ENST00000422127.1
exon_skip_190691228437665:228437941:228444351:228444627:228451816:228452092228444351:228444627ENSG00000154358.15ENST00000366709.4,ENST00000284548.11,ENST00000366707.4,ENST00000422127.1
exon_skip_190701228444351:228444627:228447201:228447477:228451816:228452092228447201:228447477ENSG00000154358.15ENST00000570156.2,ENST00000359599.6
exon_skip_190711228444351:228444627:228451816:228452092:228456230:228456342228451816:228452092ENSG00000154358.15ENST00000366709.4,ENST00000284548.11,ENST00000366707.4,ENST00000422127.1
exon_skip_190761228451816:228452092:228456230:228456506:228459625:228459922228456230:228456506ENSG00000154358.15ENST00000570156.2,ENST00000359599.6
exon_skip_190801228464878:228465014:228465205:228465367:228465454:228465559228465205:228465367ENSG00000154358.15ENST00000570156.2,ENST00000366706.2
exon_skip_190811228466875:228467145:228467521:228467788:228467879:228468146228467521:228467788ENSG00000154358.15ENST00000366709.4,ENST00000570156.2,ENST00000284548.11,ENST00000366706.2,ENST00000366707.4,ENST00000359599.6,ENST00000422127.1
exon_skip_190831228471203:228471470:228473778:228474051:228474473:228474740228473778:228474051ENSG00000154358.15ENST00000366709.4,ENST00000570156.2,ENST00000284548.11,ENST00000483539.1,ENST00000366707.4,ENST00000359599.6,ENST00000422127.1
exon_skip_190841228475761:228476025:228476325:228476589:228479598:228479862228476325:228476589ENSG00000154358.15ENST00000366709.4,ENST00000570156.2,ENST00000284548.11,ENST00000483539.1,ENST00000366707.4,ENST00000359599.6,ENST00000422127.1
exon_skip_190871228476325:228476589:228479598:228479862:228480223:228480487228479598:228479862ENSG00000154358.15ENST00000366709.4,ENST00000570156.2,ENST00000284548.11,ENST00000483539.1,ENST00000366707.4,ENST00000359599.6,ENST00000422127.1
exon_skip_190981228479598:228479862:228480223:228480487:228481053:228481317228480223:228480487ENSG00000154358.15ENST00000366709.4,ENST00000570156.2,ENST00000284548.11,ENST00000483539.1,ENST00000366707.4,ENST00000359599.6,ENST00000422127.1
exon_skip_191031228481895:228482116:228482480:228482744:228486154:228486168228482480:228482744ENSG00000154358.15ENST00000570156.2,ENST00000483539.1,ENST00000366707.4,ENST00000359599.6
exon_skip_191111228486170:228486418:228486959:228487223:228487582:228487846228486959:228487223ENSG00000154358.15ENST00000570156.2,ENST00000483539.1,ENST00000366707.4,ENST00000359599.6
exon_skip_191261228486959:228487223:228487582:228487846:228491375:228491639228487582:228487846ENSG00000154358.15ENST00000570156.2,ENST00000483539.1,ENST00000366707.4,ENST00000359599.6
exon_skip_191301228487582:228487846:228491375:228491639:228492003:228492045228491375:228491639ENSG00000154358.15ENST00000570156.2,ENST00000483539.1,ENST00000366707.4,ENST00000359599.6
exon_skip_191391228491375:228491639:228492003:228492267:228492823:228493087228492003:228492267ENSG00000154358.15ENST00000570156.2
exon_skip_191431228492003:228492267:228492823:228493087:228494072:228494339228492823:228493087ENSG00000154358.15ENST00000570156.2
exon_skip_191441228492003:228492267:228492862:228493087:228494072:228494339228492862:228493087ENSG00000154358.15ENST00000366707.4
exon_skip_191451228494959:228495232:228495811:228496084:228496799:228496996228495811:228496084ENSG00000154358.15ENST00000366709.4,ENST00000570156.2,ENST00000284548.11,ENST00000366707.4,ENST00000422127.1
exon_skip_191481228496799:228496996:228497184:228497260:228503547:228503820228497184:228497260ENSG00000154358.15ENST00000366709.4,ENST00000570156.2,ENST00000284548.11,ENST00000366707.4,ENST00000422127.1
exon_skip_191491228521283:228521481:228522212:228522245:228522515:228522614228522212:228522245ENSG00000154358.15ENST00000366709.4,ENST00000570156.2,ENST00000284548.11,ENST00000366707.4,ENST00000422127.1
exon_skip_191501228523491:228523552:228523900:228523971:228524704:228524827228523900:228523971ENSG00000154358.15ENST00000366709.4,ENST00000570156.2,ENST00000284548.11,ENST00000441106.1,ENST00000366707.4,ENST00000422127.1
exon_skip_191521228525990:228526073:228526553:228526727:228527645:228527802228526553:228526727ENSG00000154358.15ENST00000366709.4,ENST00000570156.2,ENST00000284548.11,ENST00000366707.4,ENST00000422127.1
exon_skip_191531228537590:228537758:228538541:228538644:228539021:228539151228538541:228538644ENSG00000154358.15ENST00000366709.4,ENST00000570156.2,ENST00000284548.11,ENST00000441106.1,ENST00000366707.4,ENST00000422127.1
exon_skip_191541228539021:228539151:228540651:228540763:228543851:228543894228540651:228540763ENSG00000154358.15ENST00000366709.4,ENST00000284548.11
exon_skip_191561228540734:228540763:228543851:228543894:228547297:228548456228543851:228543894ENSG00000154358.15ENST00000366709.4,ENST00000284548.11
exon_skip_191601228540734:228540763:228543851:228544045:228547297:228548456228543851:228544045ENSG00000154358.15ENST00000474237.1
exon_skip_191651228552681:228552778:228553136:228553261:228553774:228553887228553136:228553261ENSG00000154358.15ENST00000570156.2,ENST00000441106.1,ENST00000366707.4,ENST00000422127.1
exon_skip_191661228555586:228555647:228556039:228556117:228556422:228556595228556039:228556117ENSG00000154358.15ENST00000570156.2,ENST00000441106.1,ENST00000366707.4,ENST00000422127.1
exon_skip_191671228563402:228563525:228563708:228563879:228564493:228564575228563708:228563879ENSG00000154358.15ENST00000570156.2,ENST00000441106.1,ENST00000366707.4,ENST00000422127.1

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

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Exon skipping events with PSIs in GTEx for OBSCN

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_190561228401141:228401411:228401874:228402135:228402490:228402799228401874:228402135ENSG00000154358.15ENST00000284548.11,ENST00000570156.2,ENST00000422127.1,ENST00000366707.4,ENST00000366709.4
exon_skip_190611228403389:228403530:228404121:228404403:228404713:228404989228404121:228404403ENSG00000154358.15ENST00000284548.11,ENST00000570156.2,ENST00000422127.1,ENST00000366707.4,ENST00000366709.4,ENST00000493977.1
exon_skip_190631228404713:228404989:228407024:228407300:228412159:228412435228407024:228407300ENSG00000154358.15ENST00000570156.2
exon_skip_190651228404713:228404989:228412159:228412435:228430883:228431159228412159:228412435ENSG00000154358.15ENST00000284548.11,ENST00000422127.1,ENST00000366707.4,ENST00000366709.4
exon_skip_190661228407024:228407300:228412159:228412435:228430883:228431159228412159:228412435ENSG00000154358.15ENST00000570156.2
exon_skip_190681228433113:228433389:228434228:228434504:228437665:228437941228434228:228434504ENSG00000154358.15ENST00000284548.11,ENST00000570156.2,ENST00000422127.1,ENST00000366707.4,ENST00000366709.4
exon_skip_190691228437665:228437941:228444351:228444627:228451816:228452092228444351:228444627ENSG00000154358.15ENST00000284548.11,ENST00000422127.1,ENST00000366707.4,ENST00000366709.4
exon_skip_190701228444351:228444627:228447201:228447477:228451816:228452092228447201:228447477ENSG00000154358.15ENST00000570156.2,ENST00000359599.6
exon_skip_190711228444351:228444627:228451816:228452092:228456230:228456342228451816:228452092ENSG00000154358.15ENST00000284548.11,ENST00000422127.1,ENST00000366707.4,ENST00000366709.4
exon_skip_190761228451816:228452092:228456230:228456506:228459625:228459922228456230:228456506ENSG00000154358.15ENST00000570156.2,ENST00000359599.6
exon_skip_190801228464878:228465014:228465205:228465367:228465454:228465559228465205:228465367ENSG00000154358.15ENST00000570156.2,ENST00000366706.2
exon_skip_190811228466875:228467145:228467521:228467788:228467879:228468146228467521:228467788ENSG00000154358.15ENST00000284548.11,ENST00000570156.2,ENST00000422127.1,ENST00000366707.4,ENST00000366709.4,ENST00000359599.6,ENST00000366706.2
exon_skip_190831228471203:228471470:228473778:228474051:228474473:228474740228473778:228474051ENSG00000154358.15ENST00000284548.11,ENST00000570156.2,ENST00000422127.1,ENST00000366707.4,ENST00000366709.4,ENST00000359599.6,ENST00000483539.1
exon_skip_190841228475761:228476025:228476325:228476589:228479598:228479862228476325:228476589ENSG00000154358.15ENST00000284548.11,ENST00000570156.2,ENST00000422127.1,ENST00000366707.4,ENST00000366709.4,ENST00000359599.6,ENST00000483539.1
exon_skip_190871228476325:228476589:228479598:228479862:228480223:228480487228479598:228479862ENSG00000154358.15ENST00000284548.11,ENST00000570156.2,ENST00000422127.1,ENST00000366707.4,ENST00000366709.4,ENST00000359599.6,ENST00000483539.1
exon_skip_190981228479598:228479862:228480223:228480487:228481053:228481317228480223:228480487ENSG00000154358.15ENST00000284548.11,ENST00000570156.2,ENST00000422127.1,ENST00000366707.4,ENST00000366709.4,ENST00000359599.6,ENST00000483539.1
exon_skip_191031228481895:228482116:228482480:228482744:228486154:228486168228482480:228482744ENSG00000154358.15ENST00000570156.2,ENST00000366707.4,ENST00000359599.6,ENST00000483539.1
exon_skip_191111228486170:228486418:228486959:228487223:228487582:228487846228486959:228487223ENSG00000154358.15ENST00000570156.2,ENST00000366707.4,ENST00000359599.6,ENST00000483539.1
exon_skip_191261228486959:228487223:228487582:228487846:228491375:228491639228487582:228487846ENSG00000154358.15ENST00000570156.2,ENST00000366707.4,ENST00000359599.6,ENST00000483539.1
exon_skip_191301228487582:228487846:228491375:228491639:228492003:228492045228491375:228491639ENSG00000154358.15ENST00000570156.2,ENST00000366707.4,ENST00000359599.6,ENST00000483539.1
exon_skip_191391228491375:228491639:228492003:228492267:228492823:228493087228492003:228492267ENSG00000154358.15ENST00000570156.2
exon_skip_191431228492003:228492267:228492823:228493087:228494072:228494339228492823:228493087ENSG00000154358.15ENST00000570156.2
exon_skip_191441228492003:228492267:228492862:228493087:228494072:228494339228492862:228493087ENSG00000154358.15ENST00000366707.4
exon_skip_191451228494959:228495232:228495811:228496084:228496799:228496996228495811:228496084ENSG00000154358.15ENST00000284548.11,ENST00000570156.2,ENST00000422127.1,ENST00000366707.4,ENST00000366709.4
exon_skip_191481228496799:228496996:228497184:228497260:228503547:228503820228497184:228497260ENSG00000154358.15ENST00000284548.11,ENST00000570156.2,ENST00000422127.1,ENST00000366707.4,ENST00000366709.4
exon_skip_191491228521283:228521481:228522212:228522245:228522515:228522614228522212:228522245ENSG00000154358.15ENST00000284548.11,ENST00000570156.2,ENST00000422127.1,ENST00000366707.4,ENST00000366709.4
exon_skip_191501228523491:228523552:228523900:228523971:228524704:228524827228523900:228523971ENSG00000154358.15ENST00000284548.11,ENST00000570156.2,ENST00000422127.1,ENST00000366707.4,ENST00000366709.4,ENST00000441106.1
exon_skip_191521228525990:228526073:228526553:228526727:228527645:228527802228526553:228526727ENSG00000154358.15ENST00000284548.11,ENST00000570156.2,ENST00000422127.1,ENST00000366707.4,ENST00000366709.4
exon_skip_191531228537590:228537758:228538541:228538644:228539021:228539151228538541:228538644ENSG00000154358.15ENST00000284548.11,ENST00000570156.2,ENST00000422127.1,ENST00000366707.4,ENST00000366709.4,ENST00000441106.1
exon_skip_191541228539021:228539151:228540651:228540763:228543851:228543894228540651:228540763ENSG00000154358.15ENST00000284548.11,ENST00000366709.4
exon_skip_191561228540734:228540763:228543851:228543894:228547297:228548456228543851:228543894ENSG00000154358.15ENST00000284548.11,ENST00000366709.4
exon_skip_191601228540734:228540763:228543851:228544045:228547297:228548456228543851:228544045ENSG00000154358.15ENST00000474237.1
exon_skip_191651228552681:228552778:228553136:228553261:228553774:228553887228553136:228553261ENSG00000154358.15ENST00000570156.2,ENST00000422127.1,ENST00000366707.4,ENST00000441106.1
exon_skip_191661228555586:228555647:228556039:228556117:228556422:228556595228556039:228556117ENSG00000154358.15ENST00000570156.2,ENST00000422127.1,ENST00000366707.4,ENST00000441106.1
exon_skip_191671228563402:228563525:228563708:228563879:228564493:228564575228563708:228563879ENSG00000154358.15ENST00000570156.2,ENST00000422127.1,ENST00000366707.4,ENST00000441106.1

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 OBSCN

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
ENST00000422127228497184228497260Frame-shift
ENST00000422127228523900228523971Frame-shift
ENST00000422127228538541228538644Frame-shift
ENST00000422127228553136228553261Frame-shift
ENST00000422127228401874228402135In-frame
ENST00000422127228404121228404403In-frame
ENST00000422127228412159228412435In-frame
ENST00000422127228434228228434504In-frame
ENST00000422127228444351228444627In-frame
ENST00000422127228451816228452092In-frame
ENST00000422127228467521228467788In-frame
ENST00000422127228473778228474051In-frame
ENST00000422127228476325228476589In-frame
ENST00000422127228479598228479862In-frame
ENST00000422127228480223228480487In-frame
ENST00000422127228495811228496084In-frame
ENST00000422127228522212228522245In-frame
ENST00000422127228526553228526727In-frame
ENST00000422127228556039228556117In-frame
ENST00000422127228563708228563879In-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
ENST00000422127228497184228497260Frame-shift
ENST00000422127228523900228523971Frame-shift
ENST00000422127228538541228538644Frame-shift
ENST00000422127228553136228553261Frame-shift
ENST00000422127228401874228402135In-frame
ENST00000422127228404121228404403In-frame
ENST00000422127228412159228412435In-frame
ENST00000422127228434228228434504In-frame
ENST00000422127228444351228444627In-frame
ENST00000422127228451816228452092In-frame
ENST00000422127228467521228467788In-frame
ENST00000422127228473778228474051In-frame
ENST00000422127228476325228476589In-frame
ENST00000422127228479598228479862In-frame
ENST00000422127228480223228480487In-frame
ENST00000422127228495811228496084In-frame
ENST00000422127228522212228522245In-frame
ENST00000422127228526553228526727In-frame
ENST00000422127228556039228556117In-frame
ENST00000422127228563708228563879In-frame

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

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
ENST0000042212724047796822840187422840213513031563419506
ENST0000042212724047796822840412122840440321402421698792
ENST0000042212724047796822841215922841243526982973884976
ENST0000042212724047796822841215922841243526982973884976
ENST0000042212724047796822841215922841243526982973884976
ENST0000042212724047796822841215922841243526982973884976
ENST0000042212724047796822841215922841243526982973884976
ENST0000042212724047796822841215922841243526982973884976
ENST0000042212724047796822841215922841243526982973884976
ENST000004221272404779682284342282284345043802407712521344
ENST000004221272404779682284342282284345043802407712521344
ENST000004221272404779682284342282284345043802407712521344
ENST000004221272404779682284342282284345043802407712521344
ENST000004221272404779682284342282284345043802407712521344
ENST000004221272404779682284342282284345043802407712521344
ENST000004221272404779682284342282284345043802407712521344
ENST000004221272404779682284443512284446274354462914361528
ENST000004221272404779682284443512284446274354462914361528
ENST000004221272404779682284443512284446274354462914361528
ENST000004221272404779682284443512284446274354462914361528
ENST000004221272404779682284443512284446274354462914361528
ENST000004221272404779682284443512284446274354462914361528
ENST000004221272404779682284518162284520924630490515281620
ENST000004221272404779682284518162284520924630490515281620
ENST000004221272404779682284518162284520924630490515281620
ENST000004221272404779682284518162284520924630490515281620
ENST000004221272404779682284518162284520924630490515281620
ENST000004221272404779682284518162284520924630490515281620
ENST000004221272404779682284518162284520924630490515281620
ENST000004221272404779682284518162284520924630490515281620
ENST000004221272404779682284675212284677887441770724652554
ENST000004221272404779682284737782284740519049932130013092
ENST00000422127240477968228476325228476589101201038333583446
ENST00000422127240477968228476325228476589101201038333583446
ENST00000422127240477968228476325228476589101201038333583446
ENST00000422127240477968228479598228479862103841064734463534
ENST00000422127240477968228479598228479862103841064734463534
ENST00000422127240477968228480223228480487106481091135343622
ENST00000422127240477968228480223228480487106481091135343622
ENST00000422127240477968228480223228480487106481091135343622
ENST00000422127240477968228495811228496084125111278341554246
ENST00000422127240477968228522212228522245160991613153515362
ENST00000422127240477968228526553228526727171291730256955752
ENST00000422127240477968228556039228556117197341981165636589
ENST00000422127240477968228563708228563879228312300175957652

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
ENST0000042212724047796822840187422840213513031563419506
ENST0000042212724047796822840412122840440321402421698792
ENST0000042212724047796822841215922841243526982973884976
ENST0000042212724047796822841215922841243526982973884976
ENST0000042212724047796822841215922841243526982973884976
ENST0000042212724047796822841215922841243526982973884976
ENST0000042212724047796822841215922841243526982973884976
ENST0000042212724047796822841215922841243526982973884976
ENST0000042212724047796822841215922841243526982973884976
ENST000004221272404779682284342282284345043802407712521344
ENST000004221272404779682284342282284345043802407712521344
ENST000004221272404779682284342282284345043802407712521344
ENST000004221272404779682284342282284345043802407712521344
ENST000004221272404779682284342282284345043802407712521344
ENST000004221272404779682284342282284345043802407712521344
ENST000004221272404779682284342282284345043802407712521344
ENST000004221272404779682284443512284446274354462914361528
ENST000004221272404779682284443512284446274354462914361528
ENST000004221272404779682284443512284446274354462914361528
ENST000004221272404779682284443512284446274354462914361528
ENST000004221272404779682284443512284446274354462914361528
ENST000004221272404779682284443512284446274354462914361528
ENST000004221272404779682284518162284520924630490515281620
ENST000004221272404779682284518162284520924630490515281620
ENST000004221272404779682284518162284520924630490515281620
ENST000004221272404779682284518162284520924630490515281620
ENST000004221272404779682284518162284520924630490515281620
ENST000004221272404779682284518162284520924630490515281620
ENST000004221272404779682284518162284520924630490515281620
ENST000004221272404779682284518162284520924630490515281620
ENST000004221272404779682284675212284677887441770724652554
ENST000004221272404779682284737782284740519049932130013092
ENST00000422127240477968228476325228476589101201038333583446
ENST00000422127240477968228476325228476589101201038333583446
ENST00000422127240477968228476325228476589101201038333583446
ENST00000422127240477968228479598228479862103841064734463534
ENST00000422127240477968228479598228479862103841064734463534
ENST00000422127240477968228480223228480487106481091135343622
ENST00000422127240477968228480223228480487106481091135343622
ENST00000422127240477968228480223228480487106481091135343622
ENST00000422127240477968228495811228496084125111278341554246
ENST00000422127240477968228522212228522245160991613153515362
ENST00000422127240477968228526553228526727171291730256955752
ENST00000422127240477968228556039228556117197341981165636589
ENST00000422127240477968228563708228563879228312300175957652

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


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


Top

SNVs in the skipped exons for OBSCN

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-A39Y-01exon_skip_19056
228401875228402135228401974228401974Frame_Shift_DelG-p.W453fs
LIHCTCGA-G3-A3CJ-01exon_skip_19056
228401875228402135228402002228402002Frame_Shift_DelG-p.A462fs
LIHCTCGA-DD-A39Y-01exon_skip_19063
228407025228407300228407174228407174Frame_Shift_DelA-p.K935fs
LIHCTCGA-DD-A39Y-01exon_skip_19068
228434229228434504228434467228434467Frame_Shift_DelT-p.A1424fs
LIHCTCGA-DD-A3A0-01exon_skip_19068
228434229228434504228434467228434467Frame_Shift_DelT-p.A1424fs
LIHCTCGA-G3-A3CJ-01exon_skip_19068
228434229228434504228434467228434467Frame_Shift_DelT-p.A1424fs
LIHCTCGA-DD-A3A0-01exon_skip_19070
228447202228447477228447441228447441Frame_Shift_DelG-p.G1702fs
COADTCGA-AD-6895-01exon_skip_19076
228456231228456506228456470228456470Frame_Shift_DelG-p.A1700fs
LIHCTCGA-BW-A5NO-01exon_skip_19076
228456231228456506228456502228456502Frame_Shift_DelG-p.V1895fs
LIHCTCGA-DD-A3A0-01exon_skip_19084
228476326228476589228476457228476457Frame_Shift_DelG-p.G3832fs
LIHCTCGA-DD-A3A0-01exon_skip_19084
228476326228476589228476532228476532Frame_Shift_DelG-p.G3857fs
LIHCTCGA-DD-A1EG-01exon_skip_19098
228480224228480487228480253228480253Frame_Shift_DelA-p.K3974fs
UCECTCGA-DI-A0WH-01exon_skip_19103
228482481228482744228482698228482699Frame_Shift_DelGT-p.S3871fs
LIHCTCGA-DD-A1EG-01exon_skip_19111
228486960228487223228487010228487010Frame_Shift_DelG-p.G4421fs
LIHCTCGA-G3-A3CJ-01exon_skip_19111
228486960228487223228487166228487166Frame_Shift_DelG-p.G4473fs
LIHCTCGA-DD-A1EG-01exon_skip_19130
228491376228491639228491426228491426Frame_Shift_DelG-p.G4597fs
STADTCGA-HF-7132-01exon_skip_19130
228491376228491639228491466228491466Frame_Shift_DelC-p.A4610fs
BRCATCGA-A8-A094-01exon_skip_19130
228491376228491639228491624228491625Frame_Shift_DelAC-p.L1354fs
PCPGTCGA-WB-A80N-01exon_skip_19152
228526554228526727228526563228526563Frame_Shift_DelC-p.I6655fs
LIHCTCGA-DD-A3A0-01exon_skip_19152
228526554228526727228526647228526647Frame_Shift_DelC-p.C6683fs
PCPGTCGA-WB-A80V-01exon_skip_19154
228540652228540763228540722228540722Frame_Shift_DelA-p.Q7164fs
KIRPTCGA-UZ-A9PU-01exon_skip_19061
228404122228404403228404296228404297Frame_Shift_Ins-Ap.S757fs
STADTCGA-BR-7197-01exon_skip_19068
228434229228434504228434288228434289Frame_Shift_Ins-Gp.A1272fs
STADTCGA-BR-8078-01exon_skip_19068
228434229228434504228434288228434289Frame_Shift_Ins-Gp.A1272fs
KIRPTCGA-DW-7963-01exon_skip_19069
228444352228444627228444409228444410Frame_Shift_Ins-Gp.A1456fs
LIHCTCGA-CC-A5UD-01exon_skip_19070
228447202228447477228447428228447429Frame_Shift_Ins-Ap.L1697fs
LIHCTCGA-BC-A112-01exon_skip_19145
228495812228496084228495914228495915Frame_Shift_Ins-Gp.A5147fs
STADTCGA-HU-A4G8-01exon_skip_19056
228401875228402135228402120228402120Nonsense_MutationCTp.Q502*
STADTCGA-HU-A4G8-01exon_skip_19056
228401875228402135228402120228402120Nonsense_MutationCTp.Q502X
UCECTCGA-AP-A059-01exon_skip_19068
228434229228434504228434423228434423Nonsense_MutationCTp.Q1318*
SKCMTCGA-EE-A2MJ-06exon_skip_19069
228444352228444627228444558228444558Nonsense_MutationCTp.Q1598*
TGCTTCGA-2G-AAG3-01exon_skip_19080
228465206228465367228465295228465295Nonsense_MutationGTp.E2657X
SKCMTCGA-BF-A3DM-01exon_skip_19084
228476326228476589228476428228476428Nonsense_MutationGAp.W3822*
SKCMTCGA-BF-A3DM-01exon_skip_19084
228476326228476589228476428228476428Nonsense_MutationGAp.W3822X
SKCMTCGA-BF-AAP4-01exon_skip_19098
228480224228480487228480331228480331Nonsense_MutationATp.K4000*
PRADTCGA-HC-7080-01exon_skip_19103
228482481228482744228482724228482724Nonsense_MutationCAp.S4309*
LIHCTCGA-FV-A3I1-01exon_skip_19126
228487583228487846228487681228487681Nonsense_MutationGTp.E4525*
SKCMTCGA-ER-A3PL-06exon_skip_19126
228487583228487846228487685228487685Nonsense_MutationGAp.W4526*
SKCMTCGA-ER-A3PL-06exon_skip_19126
228487583228487846228487685228487685Nonsense_MutationGAp.W4526X
BLCATCGA-2F-A9KT-01exon_skip_19130
228491376228491639228491619228491619Nonsense_MutationCAp.S4661*
ESCATCGA-LN-A9FP-01exon_skip_19145
228495812228496084228495817228495817Nonsense_MutationGTp.E4158*
ESCATCGA-LN-A9FP-01exon_skip_19145
228495812228496084228495817228495817Nonsense_MutationGTp.E5115*
LUADTCGA-55-7283-01exon_skip_19145
228495812228496084228495874228495874Nonsense_MutationGTp.E4177*
LUADTCGA-55-7283-01exon_skip_19145
228495812228496084228495874228495874Nonsense_MutationGTp.E5134*
LUADTCGA-44-2656-01exon_skip_19150
228523901228523971228523918228523918Nonsense_MutationCAp.S5495*
LUADTCGA-44-2656-01exon_skip_19150
228523901228523971228523918228523918Nonsense_MutationCAp.S6452*
THYMTCGA-5V-A9RR-01exon_skip_19153
228538542228538644228538592228538592Nonsense_MutationGTp.E7080X
UCECTCGA-BS-A0UF-01exon_skip_19153
228538542228538644228538592228538592Nonsense_MutationGTp.E6123*
BRCATCGA-BH-A1F8-01exon_skip_19153
228538542228538644228538601228538601Nonsense_MutationCTp.Q6126*
SARCTCGA-DX-A6YV-01exon_skip_19165
228553137228553261228553210228553210Nonsense_MutationGTp.E7295*
SKCMTCGA-Z2-AA3S-06exon_skip_19076
228456231228456506228456506228456507Splice_Site-GTp.S1897_splice
LUSCTCGA-60-2723-01exon_skip_19098
228480224228480487228480222228480222Splice_SiteATp.A3535_splice
LUADTCGA-78-7154-01exon_skip_19149
228522213228522245228522247228522247Splice_SiteTGp.D5363_splice
STADTCGA-BR-6452-01exon_skip_19150
228523901228523971228523973228523973Splice_SiteTC.
STADTCGA-BR-6452-01exon_skip_19150
228523901228523971228523973228523973Splice_SiteTCp.E5513_splice
THYMTCGA-XU-A930-01exon_skip_19153
228538542228538644228538541228538541Splice_SiteGT.

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
HEC108_ENDOMETRIUM228404122228404403228404182228404182Frame_Shift_DelG-p.R719fs
HEC108_ENDOMETRIUM228456231228456506228456350228456350Frame_Shift_DelA-p.K1661fs
BONNA12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE228467522228467788228467562228467563Frame_Shift_DelAG-p.G2480fs
GP2D_LARGE_INTESTINE228467522228467788228467648228467648Frame_Shift_DelT-p.L2508fs
GP5D_LARGE_INTESTINE228467522228467788228467648228467648Frame_Shift_DelT-p.L2508fs
SKLMS1_SOFT_TISSUE228473779228474051228473951228473951Frame_Shift_DelC-p.G3059fs
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE228479599228479862228479653228479653Frame_Shift_DelC-p.A3465fs
NCIH1930_LUNG228563709228563879228563867228563867Frame_Shift_DelC-p.P7649fs
SNUC1_LARGE_INTESTINE228404122228404403228404272228404273Frame_Shift_Ins-Cp.GP749fs
HEC59_ENDOMETRIUM228401875228402135228401913228401913Missense_MutationCTp.R433C
LIM1215_LARGE_INTESTINE228401875228402135228401925228401925Missense_MutationAGp.T437A
NB17_AUTONOMIC_GANGLIA228401875228402135228401938228401938Missense_MutationGCp.C441S
HEC59_ENDOMETRIUM228401875228402135228402009228402009Missense_MutationCAp.R465S
SHP77_LUNG228401875228402135228402010228402010Missense_MutationGAp.R465H
SNU449_LIVER228401875228402135228402024228402024Missense_MutationGTp.A470S
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE228401875228402135228402057228402057Missense_MutationCAp.Q481K
CHLA266_SOFT_TISSUE228404122228404403228404157228404157Missense_MutationGAp.A711T
ANGMCSS_CENTRAL_NERVOUS_SYSTEM228404122228404403228404212228404212Missense_MutationACp.E729A
KYSE70_OESOPHAGUS228404122228404403228404296228404296Missense_MutationCTp.S757L
KP4_PANCREAS228404122228404403228404355228404355Missense_MutationGAp.E777K
NCIH630_LARGE_INTESTINE228404122228404403228404382228404382Missense_MutationGAp.A786T
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE228412160228412435228412163228412163Missense_MutationCAp.P886H
5637_URINARY_TRACT228412160228412435228412171228412171Missense_MutationGTp.V889L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE228412160228412435228412277228412277Missense_MutationATp.Y924F
TE1_OESOPHAGUS228412160228412435228412316228412316Missense_MutationGTp.C937F
NCC010_KIDNEY228412160228412435228412318228412318Missense_MutationAGp.M938V
SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE228412160228412435228412322228412322Missense_MutationAGp.E939G
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE228412160228412435228412324228412324Missense_MutationGCp.A940P
HCT15_LARGE_INTESTINE228412160228412435228412343228412343Missense_MutationGTp.R946M
HRT18_LARGE_INTESTINE228412160228412435228412343228412343Missense_MutationGTp.R946M
BECKER_CENTRAL_NERVOUS_SYSTEM228412160228412435228412379228412379Missense_MutationGAp.G958E
KPNSI9S_AUTONOMIC_GANGLIA228412160228412435228412399228412399Missense_MutationGAp.G965R
TUHR4TKB_KIDNEY228412160228412435228412411228412411Missense_MutationCTp.L969F
NCIH1373_LUNG228434229228434504228434237228434237Missense_MutationGAp.A1256T
ESO51_OESOPHAGUS228434229228434504228434256228434256Missense_MutationATp.Q1262L
SR786_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE228434229228434504228434308228434308Missense_MutationCAp.S1279R
H2369_PLEURA228434229228434504228434310228434310Missense_MutationGAp.C1280Y
SNU1040_LARGE_INTESTINE228434229228434504228434340228434340Missense_MutationCTp.T1290M
HEC108_ENDOMETRIUM228434229228434504228434382228434382Missense_MutationTCp.V1304A
JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE228434229228434504228434441228434441Missense_MutationGAp.D1324N
NCIH2591_PLEURA228434229228434504228434460228434460Missense_MutationGAp.C1330Y
TCCSUP_URINARY_TRACT228444352228444627228444435228444435Missense_MutationGAp.E1465K
HCC2157_BREAST228444352228444627228444454228444454Missense_MutationCTp.T1471M
HCC2157_MATCHED_NORMAL_TISSUE228444352228444627228444454228444454Missense_MutationCTp.T1471M
SKNEP1_BONE228444352228444627228444499228444499Missense_MutationCTp.S1486L
YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE228444352228444627228444507228444507Missense_MutationCTp.R1489C
LNCAPCLONEFGC_PROSTATE228444352228444627228444567228444567Missense_MutationGAp.A1509T
NCIH2373_PLEURA228444352228444627228444567228444567Missense_MutationGAp.A1509T
BB65RCC_KIDNEY228444352228444627228444592228444592Missense_MutationGTp.G1517V
PL21_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE228444352228444627228444599228444599Missense_MutationGTp.Q1519H
SNU81_LARGE_INTESTINE228451817228452092228451850228451850Missense_MutationCTp.A1540V
LNCAPCLONEFGC_PROSTATE228451817228452092228451889228451889Missense_MutationCTp.T1553M
22RV1_PROSTATE228451817228452092228451928228451928Missense_MutationCTp.T1566M
HS742T_FIBROBLAST228451817228452092228451964228451964Missense_MutationCTp.S1578L
SW962_VULVA228451817228452092228451978228451978Missense_MutationGAp.E1583K
TE9_OESOPHAGUS228451817228452092228451986228451987Missense_MutationGGTTp.G1586C
TE9_OESOPHAGUS228451817228452092228451987228451987Missense_MutationGTp.G1586C
OVK18_OVARY228451817228452092228452021228452021Missense_MutationGAp.G1597D
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE228451817228452092228452048228452048Missense_MutationGAp.C1606Y
HARA_LUNG228451817228452092228452078228452078Missense_MutationAGp.H1616R
JHH2_LIVER228456231228456506228456234228456234Missense_MutationCTp.P1622L
KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE228456231228456506228456234228456234Missense_MutationCTp.P1622L
FEPD_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE228456231228456506228456326228456326Missense_MutationGAp.A1653T
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE228456231228456506228456341228456341Missense_MutationAGp.T1658A
JHH4_LIVER228456231228456506228456447228456447Missense_MutationCTp.A1693V
MEG01_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE228467522228467788228467555228467555Missense_MutationCGp.P2477R
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE228467522228467788228467587228467587Missense_MutationCAp.L2488M
HT115_LARGE_INTESTINE228467522228467788228467630228467630Missense_MutationAGp.Y2502C
OVK18_OVARY228467522228467788228467750228467750Missense_MutationCTp.A2542V
NCIH650_LUNG228473779228474051228473829228473829Missense_MutationGTp.G3019C
LNCAPCLONEFGC_PROSTATE228473779228474051228473851228473851Missense_MutationGAp.C3026Y
ES7_BONE228473779228474051228473901228473901Missense_MutationAGp.T3043A
NCIH2342_LUNG228473779228474051228473934228473934Missense_MutationGTp.D3054Y
SNU175_LARGE_INTESTINE228476326228476589228476385228476385Missense_MutationGAp.A3379T
WM2664_SKIN228476326228476589228476395228476395Missense_MutationGAp.R3382Q
WM115_SKIN228476326228476589228476395228476395Missense_MutationGAp.R3382Q
LS411N_LARGE_INTESTINE228476326228476589228476518228476518Missense_MutationCTp.A3423V
IMR5_AUTONOMIC_GANGLIA228476326228476589228476587228476587Missense_MutationAGp.K3446R
IMR32_AUTONOMIC_GANGLIA228476326228476589228476587228476587Missense_MutationAGp.K3446R
SNU175_LARGE_INTESTINE228479599228479862228479640228479640Missense_MutationGTp.A3461S
CAL72_BONE228479599228479862228479725228479725Missense_MutationGCp.R3489T
MM383_SKIN228479599228479862228479732228479733Missense_MutationGGAAp.D3492N
EN_ENDOMETRIUM228479599228479862228479748228479748Missense_MutationATp.R3497W
TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE228479599228479862228479815228479815Missense_MutationTCp.L3519S
EMCBAC1_LUNG228480224228480487228480265228480265Missense_MutationGTp.A3549S
P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE228480224228480487228480283228480283Missense_MutationGAp.A3555T
CP50MELB_SKIN228480224228480487228480316228480316Missense_MutationCTp.P3566S
DOTC24510_CERVIX228480224228480487228480358228480358Missense_MutationGCp.D3580H
ISTMEL1_SKIN228480224228480487228480406228480406Missense_MutationCTp.R3596C
HEC6_ENDOMETRIUM228482481228482744228482576228482576Missense_MutationGAp.V3831M
KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE228482481228482744228482612228482612Missense_MutationGAp.G3843R
UACC62_SKIN228482481228482744228482613228482613Missense_MutationGAp.G3843E
A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE228482481228482744228482646228482646Missense_MutationGTp.R3854I
HCC15_LUNG228482481228482744228482658228482658Missense_MutationATp.Q3858L
NCIH2286_LUNG228482481228482744228482708228482708Missense_MutationGTp.G3875W
HCC1937_BREAST228495812228496084228495872228495872Missense_MutationTCp.V4176A
HCC1937_MATCHED_NORMAL_TISSUE228495812228496084228495872228495872Missense_MutationTCp.V4176A
CORL311_LUNG228495812228496084228495897228495897Missense_MutationGCp.R4184S
NB10_AUTONOMIC_GANGLIA228495812228496084228495913228495913Missense_MutationGTp.V4190L
SNU324_PANCREAS228495812228496084228496024228496024Missense_MutationGAp.A4227T
LUDLU1_LUNG228497185228497260228497258228497258Missense_MutationCTp.T4337I
HT115_LARGE_INTESTINE228526554228526727228526641228526641Missense_MutationGTp.E5724D
NCIH226_LUNG228526554228526727228526642228526642Missense_MutationCTp.R5725C
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE228526554228526727228526666228526666Missense_MutationGAp.V5733M
HEC108_ENDOMETRIUM228526554228526727228526685228526685Missense_MutationTCp.V5739A
BHY_UPPER_AERODIGESTIVE_TRACT228538542228538644228538577228538577Missense_MutationCTp.P6118S
KYSE30_OESOPHAGUS228540652228540763228540713228540713Missense_MutationTCp.L6204P
RERFLCMS_LUNG228540652228540763228540713228540713Missense_MutationTCp.L6204P
KYSE270_OESOPHAGUS228540652228540763228540713228540713Missense_MutationTCp.L6204P
NKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE228540652228540763228540713228540713Missense_MutationTCp.L6204P
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE228540652228540763228540734228540734Missense_MutationAGp.H6211R
CP66MEL_SKIN228553137228553261228553144228553144Missense_MutationGAp.G6316S
SW1783_CENTRAL_NERVOUS_SYSTEM228553137228553261228553189228553189Missense_MutationGAp.V6331I
BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE228553137228553261228553208228553208Missense_MutationGAp.R6337K
SW13_ADRENAL_CORTEX228553137228553261228553232228553232Missense_MutationCTp.T6345I
LS1034_LARGE_INTESTINE228556040228556117228556105228556105Missense_MutationCGp.H6585Q
LS1034_MATCHED_NORMAL_TISSUE228556040228556117228556105228556105Missense_MutationCGp.H6585Q
VCAP_PROSTATE228563709228563879228563784228563784Missense_MutationCTp.T7621I
EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE228563709228563879228563790228563790Missense_MutationCTp.T7623I
CW2_LARGE_INTESTINE228563709228563879228563867228563867Missense_MutationCTp.P7649S
MERO48A_LUNG228404122228404403228404289228404289Nonsense_MutationCTp.Q755*
RMUGS_OVARY228404122228404403228404322228404322Nonsense_MutationCTp.R766*
SNU1033_LARGE_INTESTINE228412160228412435228412275228412275Nonsense_MutationGAp.W923*
CAL33_UPPER_AERODIGESTIVE_TRACT228482481228482744228482583228482583Nonsense_MutationGAp.W3833*
GP5D_LARGE_INTESTINE228451817228452092228451818228451818Splice_SiteGAp.E1529E

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

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_190981228479598:228479862:228480223:228480487:228481053:228481317228480223:228480487ENST00000366709.4,ENST00000570156.2,ENST00000284548.11,ENST00000483539.1,ENST00000366707.4,ENST00000359599.6,ENST00000422127.1COADrs1150908chr1:228480282A/G1.44e-03
exon_skip_190981228479598:228479862:228480223:228480487:228481053:228481317228480223:228480487ENST00000366709.4,ENST00000570156.2,ENST00000284548.11,ENST00000483539.1,ENST00000366707.4,ENST00000359599.6,ENST00000422127.1COADrs1150908chr1:228480282A/G1.44e-03
exon_skip_191451228494959:228495232:228495811:228496084:228496799:228496996228495811:228496084ENST00000366709.4,ENST00000570156.2,ENST00000284548.11,ENST00000366707.4,ENST00000422127.1BRCArs876180chr1:228496014G/A2.75e-03
exon_skip_191451228494959:228495232:228495811:228496084:228496799:228496996228495811:228496084ENST00000366709.4,ENST00000570156.2,ENST00000284548.11,ENST00000366707.4,ENST00000422127.1BRCArs876180chr1:228496014G/A5.17e-03

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


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


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RelatedDrugs for OBSCN

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 OBSCN

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