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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 DDB1

check button Gene summary
Gene informationGene symbol

DDB1

Gene ID

1642

Gene namedamage specific DNA binding protein 1
SynonymsDDBA|UV-DDB1|XAP1|XPCE|XPE|XPE-BF
Cytomap

11q12.2

Type of geneprotein-coding
DescriptionDNA damage-binding protein 1DDB p127 subunitDNA damage-binding protein aHBV X-associated protein 1UV-DDB 1UV-damaged DNA-binding factorUV-damaged DNA-binding protein 1XAP-1XPE-binding factordamage-specific DNA binding protein 1, 127kDaxeroderma
Modification date20180523
UniProtAcc

Q16531

ContextPubMed: DDB1 [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
DDB1

GO:0006511

ubiquitin-dependent protein catabolic process

11673459

DDB1

GO:0035518

histone H2A monoubiquitination

22334663

DDB1

GO:0051702

interaction with symbiont

23137809

DDB1

GO:0070914

UV-damage excision repair

22334663


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Exon skipping events across known transcript of Ensembl for DDB1 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 DDB1

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 DDB1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_714921161069728:61069831:61070053:61070223:61070517:6107062761070053:61070223ENSG00000167986.9ENST00000540166.1,ENST00000538470.1,ENST00000450997.2,ENST00000301764.7
exon_skip_714931161070517:61070627:61071336:61071507:61076454:6107654961071336:61071507ENSG00000167986.9ENST00000540166.1,ENST00000539332.1,ENST00000450997.2,ENST00000301764.7
exon_skip_714941161071336:61071507:61076454:61076549:61077267:6107743261076454:61076549ENSG00000167986.9ENST00000540166.1,ENST00000539332.1,ENST00000450997.2,ENST00000301764.7
exon_skip_714971161076454:61076549:61077267:61077432:61077766:6107789061077267:61077432ENSG00000167986.9ENST00000540166.1,ENST00000539332.1,ENST00000450997.2,ENST00000301764.7
exon_skip_714991161077280:61077432:61077766:61077890:61079255:6107936761077766:61077890ENSG00000167986.9ENST00000540166.1,ENST00000301764.7
exon_skip_715021161079255:61079367:61079460:61079556:61080970:6108117861079460:61079556ENSG00000167986.9ENST00000535147.1,ENST00000540166.1,ENST00000301764.7
exon_skip_715031161081009:61081178:61081333:61081441:61081518:6108167461081333:61081441ENSG00000167986.9ENST00000535147.1,ENST00000540166.1,ENST00000537877.1,ENST00000301764.7
exon_skip_715061161081519:61081682:61081779:61081958:61083756:6108386561081779:61081958ENSG00000167986.9ENST00000540166.1,ENST00000537877.1,ENST00000540784.1,ENST00000535967.1,ENST00000539739.1,ENST00000301764.7
exon_skip_715071161081924:61081958:61082803:61082995:61083756:6108386561082803:61082995ENSG00000167986.9ENST00000545930.1
exon_skip_715081161081924:61081958:61083756:61083865:61083963:6108403961083756:61083865ENSG00000167986.9ENST00000540166.1,ENST00000537877.1,ENST00000540784.1,ENST00000535967.1,ENST00000539739.1,ENST00000301764.7
exon_skip_715111161089066:61089169:61089767:61089884:61090482:6109056661089767:61089884ENSG00000167986.9ENST00000540166.1,ENST00000545930.1,ENST00000539712.1,ENST00000540784.1,ENST00000539739.1,ENST00000301764.7,ENST00000535174.1
exon_skip_715121161089788:61089884:61090482:61090566:61091450:6109160961090482:61090566ENSG00000167986.9ENST00000540166.1,ENST00000545930.1,ENST00000539712.1,ENST00000540784.1,ENST00000301764.7,ENST00000541513.1,ENST00000535174.1
exon_skip_715131161091555:61091609:61091709:61091859:61093082:6109317461091709:61091859ENSG00000167986.9ENST00000545930.1
exon_skip_715161161091555:61091609:61093082:61093180:61094250:6109436561093082:61093180ENSG00000167986.9ENST00000537120.1,ENST00000540166.1,ENST00000539712.1,ENST00000301764.7,ENST00000535174.1,ENST00000543162.1
exon_skip_715211161093082:61093180:61094250:61094365:61096834:6109705661094250:61094365ENSG00000167986.9ENST00000537120.1,ENST00000540166.1,ENST00000301764.7
exon_skip_715221161093082:61093180:61094250:61094365:61099014:6109916361094250:61094365ENSG00000167986.9ENST00000543162.1
exon_skip_715231161094250:61094365:61096834:61097056:61097429:6109754661096834:61097056ENSG00000167986.9ENST00000537120.1,ENST00000540166.1,ENST00000539426.1,ENST00000301764.7
exon_skip_715291161094250:61094365:61099014:61099163:61100379:6110048061099014:61099163ENSG00000167986.9ENST00000543162.1
exon_skip_715351161097429:61097546:61099014:61099163:61100379:6110048061099014:61099163ENSG00000167986.9ENST00000537120.1,ENST00000540166.1,ENST00000542337.1,ENST00000543627.1

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

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Exon skipping events with PSIs in GTEx for DDB1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_714921161069728:61069831:61070053:61070223:61070517:6107062761070053:61070223ENSG00000167986.9ENST00000301764.7,ENST00000450997.2,ENST00000540166.1,ENST00000538470.1
exon_skip_714931161070517:61070627:61071336:61071507:61076454:6107654961071336:61071507ENSG00000167986.9ENST00000301764.7,ENST00000450997.2,ENST00000540166.1,ENST00000539332.1
exon_skip_714941161071336:61071507:61076454:61076549:61077267:6107743261076454:61076549ENSG00000167986.9ENST00000301764.7,ENST00000450997.2,ENST00000540166.1,ENST00000539332.1
exon_skip_714971161076454:61076549:61077267:61077432:61077766:6107789061077267:61077432ENSG00000167986.9ENST00000301764.7,ENST00000450997.2,ENST00000540166.1,ENST00000539332.1
exon_skip_714991161077280:61077432:61077766:61077890:61079255:6107936761077766:61077890ENSG00000167986.9ENST00000301764.7,ENST00000540166.1
exon_skip_715021161079255:61079367:61079460:61079556:61080970:6108117861079460:61079556ENSG00000167986.9ENST00000301764.7,ENST00000540166.1,ENST00000535147.1
exon_skip_715031161081009:61081178:61081333:61081441:61081518:6108167461081333:61081441ENSG00000167986.9ENST00000301764.7,ENST00000540166.1,ENST00000535147.1,ENST00000537877.1
exon_skip_715061161081519:61081682:61081779:61081958:61083756:6108386561081779:61081958ENSG00000167986.9ENST00000301764.7,ENST00000540166.1,ENST00000537877.1,ENST00000535967.1,ENST00000539739.1,ENST00000540784.1
exon_skip_715071161081924:61081958:61082803:61082995:61083756:6108386561082803:61082995ENSG00000167986.9ENST00000545930.1
exon_skip_715081161081924:61081958:61083756:61083865:61083963:6108403961083756:61083865ENSG00000167986.9ENST00000301764.7,ENST00000540166.1,ENST00000537877.1,ENST00000535967.1,ENST00000539739.1,ENST00000540784.1
exon_skip_715111161089066:61089169:61089767:61089884:61090482:6109056661089767:61089884ENSG00000167986.9ENST00000301764.7,ENST00000540166.1,ENST00000539739.1,ENST00000540784.1,ENST00000545930.1,ENST00000535174.1,ENST00000539712.1
exon_skip_715121161089788:61089884:61090482:61090566:61091450:6109160961090482:61090566ENSG00000167986.9ENST00000301764.7,ENST00000540166.1,ENST00000540784.1,ENST00000545930.1,ENST00000535174.1,ENST00000539712.1,ENST00000541513.1
exon_skip_715131161091555:61091609:61091709:61091859:61093082:6109317461091709:61091859ENSG00000167986.9ENST00000545930.1
exon_skip_715161161091555:61091609:61093082:61093180:61094250:6109436561093082:61093180ENSG00000167986.9ENST00000301764.7,ENST00000540166.1,ENST00000535174.1,ENST00000539712.1,ENST00000537120.1,ENST00000543162.1
exon_skip_715211161093082:61093180:61094250:61094365:61096834:6109705661094250:61094365ENSG00000167986.9ENST00000301764.7,ENST00000540166.1,ENST00000537120.1
exon_skip_715221161093082:61093180:61094250:61094365:61099014:6109916361094250:61094365ENSG00000167986.9ENST00000543162.1
exon_skip_715231161094250:61094365:61096834:61097056:61097429:6109754661096834:61097056ENSG00000167986.9ENST00000301764.7,ENST00000540166.1,ENST00000537120.1,ENST00000539426.1
exon_skip_715291161094250:61094365:61099014:61099163:61100379:6110048061099014:61099163ENSG00000167986.9ENST00000543162.1
exon_skip_715351161097429:61097546:61099014:61099163:61100379:6110048061099014:61099163ENSG00000167986.9ENST00000540166.1,ENST00000537120.1,ENST00000542337.1,ENST00000543627.1

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 DDB1

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
ENST000003017646107005361070223Frame-shift
ENST000003017646107645461076549Frame-shift
ENST000003017646107776661077890Frame-shift
ENST000003017646108177961081958Frame-shift
ENST000003017646108375661083865Frame-shift
ENST000003017646109308261093180Frame-shift
ENST000003017646109425061094365Frame-shift
ENST000003017646107133661071507In-frame
ENST000003017646107726761077432In-frame
ENST000003017646107946061079556In-frame
ENST000003017646108133361081441In-frame
ENST000003017646108976761089884In-frame
ENST000003017646109048261090566In-frame
ENST000003017646109683461097056In-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
ENST000003017646107005361070223Frame-shift
ENST000003017646107645461076549Frame-shift
ENST000003017646107776661077890Frame-shift
ENST000003017646108177961081958Frame-shift
ENST000003017646108375661083865Frame-shift
ENST000003017646109308261093180Frame-shift
ENST000003017646109425061094365Frame-shift
ENST000003017646107133661071507In-frame
ENST000003017646107726761077432In-frame
ENST000003017646107946061079556In-frame
ENST000003017646108133361081441In-frame
ENST000003017646108976761089884In-frame
ENST000003017646109048261090566In-frame
ENST000003017646109683461097056In-frame

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Infer the effects of exon skipping event on protein functional features for DDB1

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
ENST00000301764452311406109683461097056726947109183
ENST0000030176445231140610904826109056613201403307335
ENST0000030176445231140610897676108988414041520335374
ENST0000030176445231140610813336108144121522259584620
ENST0000030176445231140610794606107955624682563690721
ENST0000030176445231140610772676107743228002964800855
ENST0000030176445231140610713366107150730603230887944

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
ENST00000301764452311406109683461097056726947109183
ENST0000030176445231140610904826109056613201403307335
ENST0000030176445231140610897676108988414041520335374
ENST0000030176445231140610813336108144121522259584620
ENST0000030176445231140610794606107955624682563690721
ENST0000030176445231140610772676107743228002964800855
ENST0000030176445231140610713366107150730603230887944

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
Q1653110918371759Alternative sequenceID=VSP_055540;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q16531109183121124Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531109183128134Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531109183139144Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531109183146148Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI4
Q16531109183155158Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531109183164169Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531109183177184Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q1653110918321140ChainID=PRO_0000079840;Note=DNA damage-binding protein 1
Q165311091832768RegionNote=Interaction with CDT1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15448697;Dbxref=PMID:15448697
Q1653110918313356RegionNote=WD repeat beta-propeller A
Q1653130733571759Alternative sequenceID=VSP_055540;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q16531307335296307Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531307335312316Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531307335321325Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531307335327329Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531307335331336Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q1653130733521140ChainID=PRO_0000079840;Note=DNA damage-binding protein 1
Q16531307335316319MutagenesisNote=Impairs interaction with DDA1. YLDN->ALAA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16949367;Dbxref=PMID:16949367
Q165313073352768RegionNote=Interaction with CDT1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15448697;Dbxref=PMID:15448697
Q1653130733513356RegionNote=WD repeat beta-propeller A
Q16531307335318320TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CI2
Q1653133537471759Alternative sequenceID=VSP_055540;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q16531335374331336Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531335374347353Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531335374358365Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531335374369371Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531335374374379Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q1653133537421140ChainID=PRO_0000079840;Note=DNA damage-binding protein 1
Q16531335374342344HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3I7K
Q165313353742768RegionNote=Interaction with CDT1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15448697;Dbxref=PMID:15448697
Q1653133537413356RegionNote=WD repeat beta-propeller A
Q1653158462071759Alternative sequenceID=VSP_055540;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q16531584620583585Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3I7K
Q16531584620588596Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531584620599606Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531584620609616Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q1653158462021140ChainID=PRO_0000079840;Note=DNA damage-binding protein 1
Q165315846202768RegionNote=Interaction with CDT1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15448697;Dbxref=PMID:15448697
Q16531584620392708RegionNote=WD repeat beta-propeller B%3B Interaction with CUL4A
Q16531584620618620TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q1653169072171759Alternative sequenceID=VSP_055540;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q16531690721690694Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531690721696698Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4E5Z
Q16531690721699704Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531690721707716Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531690721718727Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q1653169072121140ChainID=PRO_0000079840;Note=DNA damage-binding protein 1
Q165316907212768RegionNote=Interaction with CDT1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15448697;Dbxref=PMID:15448697
Q16531690721392708RegionNote=WD repeat beta-propeller B%3B Interaction with CUL4A
Q165316907217091043RegionNote=WD repeat beta-propeller C
Q16531800855801806Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531800855811819Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531800855823826Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI4
Q16531800855828835Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531800855840842Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3I7N
Q16531800855846854Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q1653180085521140ChainID=PRO_0000079840;Note=DNA damage-binding protein 1
Q16531800855840842MutagenesisNote=Impairs interaction with AMBRA1%2C DTL%2C DET1%2C DCAF1%2C DCAF5%2C DCAF11 and DCAF8. EAE->AAA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16949367;Dbxref=PMID:16949367
Q165318008557091043RegionNote=WD repeat beta-propeller C
Q165318008557711140RegionNote=Interaction with CDT1 and CUL4A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15448697;Dbxref=PMID:15448697
Q16531887944887893Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531887944895897Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3I7H
Q16531887944899905Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531887944911917Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531887944920928Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531887944930936Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531887944941947Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q1653188794421140ChainID=PRO_0000079840;Note=DNA damage-binding protein 1
Q16531887944910913MutagenesisNote=Impairs interaction with AMBRA1%2C DTL and DCAF5. MALY->AAAA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16949367;Dbxref=PMID:16949367
Q165318879447091043RegionNote=WD repeat beta-propeller C
Q165318879447711140RegionNote=Interaction with CDT1 and CUL4A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15448697;Dbxref=PMID:15448697
Q16531887944898899Sequence conflictNote=EL->DV;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q16531887944898899Sequence conflictNote=EL->DV;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q16531887944937940TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3


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
Q1653110918371759Alternative sequenceID=VSP_055540;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q16531109183121124Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531109183128134Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531109183139144Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531109183146148Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI4
Q16531109183155158Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531109183164169Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531109183177184Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q1653110918321140ChainID=PRO_0000079840;Note=DNA damage-binding protein 1
Q165311091832768RegionNote=Interaction with CDT1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15448697;Dbxref=PMID:15448697
Q1653110918313356RegionNote=WD repeat beta-propeller A
Q1653130733571759Alternative sequenceID=VSP_055540;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q16531307335296307Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531307335312316Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531307335321325Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531307335327329Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531307335331336Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q1653130733521140ChainID=PRO_0000079840;Note=DNA damage-binding protein 1
Q16531307335316319MutagenesisNote=Impairs interaction with DDA1. YLDN->ALAA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16949367;Dbxref=PMID:16949367
Q165313073352768RegionNote=Interaction with CDT1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15448697;Dbxref=PMID:15448697
Q1653130733513356RegionNote=WD repeat beta-propeller A
Q16531307335318320TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4CI2
Q1653133537471759Alternative sequenceID=VSP_055540;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q16531335374331336Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531335374347353Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531335374358365Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531335374369371Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531335374374379Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q1653133537421140ChainID=PRO_0000079840;Note=DNA damage-binding protein 1
Q16531335374342344HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3I7K
Q165313353742768RegionNote=Interaction with CDT1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15448697;Dbxref=PMID:15448697
Q1653133537413356RegionNote=WD repeat beta-propeller A
Q1653158462071759Alternative sequenceID=VSP_055540;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q16531584620583585Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3I7K
Q16531584620588596Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531584620599606Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531584620609616Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q1653158462021140ChainID=PRO_0000079840;Note=DNA damage-binding protein 1
Q165315846202768RegionNote=Interaction with CDT1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15448697;Dbxref=PMID:15448697
Q16531584620392708RegionNote=WD repeat beta-propeller B%3B Interaction with CUL4A
Q16531584620618620TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q1653169072171759Alternative sequenceID=VSP_055540;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q16531690721690694Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531690721696698Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4E5Z
Q16531690721699704Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531690721707716Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531690721718727Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q1653169072121140ChainID=PRO_0000079840;Note=DNA damage-binding protein 1
Q165316907212768RegionNote=Interaction with CDT1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15448697;Dbxref=PMID:15448697
Q16531690721392708RegionNote=WD repeat beta-propeller B%3B Interaction with CUL4A
Q165316907217091043RegionNote=WD repeat beta-propeller C
Q16531800855801806Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531800855811819Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531800855823826Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI4
Q16531800855828835Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531800855840842Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3I7N
Q16531800855846854Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q1653180085521140ChainID=PRO_0000079840;Note=DNA damage-binding protein 1
Q16531800855840842MutagenesisNote=Impairs interaction with AMBRA1%2C DTL%2C DET1%2C DCAF1%2C DCAF5%2C DCAF11 and DCAF8. EAE->AAA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16949367;Dbxref=PMID:16949367
Q165318008557091043RegionNote=WD repeat beta-propeller C
Q165318008557711140RegionNote=Interaction with CDT1 and CUL4A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15448697;Dbxref=PMID:15448697
Q16531887944887893Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531887944895897Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3I7H
Q16531887944899905Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531887944911917Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531887944920928Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531887944930936Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q16531887944941947Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3
Q1653188794421140ChainID=PRO_0000079840;Note=DNA damage-binding protein 1
Q16531887944910913MutagenesisNote=Impairs interaction with AMBRA1%2C DTL and DCAF5. MALY->AAAA;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16949367;Dbxref=PMID:16949367
Q165318879447091043RegionNote=WD repeat beta-propeller C
Q165318879447711140RegionNote=Interaction with CDT1 and CUL4A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15448697;Dbxref=PMID:15448697
Q16531887944898899Sequence conflictNote=EL->DV;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q16531887944898899Sequence conflictNote=EL->DV;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q16531887944937940TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EI3


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SNVs in the skipped exons for DDB1

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.
DDB1_CESC_exon_skip_71523_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
STADTCGA-BR-8372-01exon_skip_71492
61070054610702236107009761070097Frame_Shift_DelG-p.T1024fs
LIHCTCGA-DD-A1EG-01exon_skip_71494
61076455610765496107648061076480Frame_Shift_DelT-p.K879fs
LIHCTCGA-G3-A3CJ-01exon_skip_71494
61076455610765496107648861076488Frame_Shift_DelA-p.F876fs
LIHCTCGA-DD-A39Y-01exon_skip_71494
61076455610765496107652561076525Frame_Shift_DelT-p.K864fs
LIHCTCGA-G3-A3CJ-01exon_skip_71494
61076455610765496107652561076525Frame_Shift_DelT-p.K864fs
SKCMTCGA-EE-A3JI-06exon_skip_71494
61076455610765496107653361076534Frame_Shift_DelCA-p.V861fs
LIHCTCGA-G3-A3CJ-01exon_skip_71497
61077268610774326107732861077328Frame_Shift_DelC-p.V836fs
LUADTCGA-91-6836-01exon_skip_71503
61081334610814416108143161081431Frame_Shift_DelA-p.P588fs
COADTCGA-A6-5661-01exon_skip_71516
61093083610931806109316061093160Frame_Shift_DelC-p.A229fs
LIHCTCGA-DD-A39Y-01exon_skip_71516
61093083610931806109316061093160Frame_Shift_DelC-p.A229fs
LIHCTCGA-DD-A3A1-01exon_skip_71522
exon_skip_71521
61094251610943656109434161094341Frame_Shift_DelT-p.T192fs
LIHCTCGA-G3-A3CJ-01exon_skip_71535
exon_skip_71529
61099015610991636109906661099066Frame_Shift_DelT-p.K53fs
LIHCTCGA-DD-A1EG-01exon_skip_71535
exon_skip_71529
61099015610991636109911861099118Frame_Shift_DelT-p.N36fs
COADTCGA-A6-5665-01exon_skip_71516
61093083610931806109315961093160Frame_Shift_Ins-Cp.A229fs
KIRCTCGA-A3-3316-01exon_skip_71516
61093083610931806109315961093160Frame_Shift_Ins-Cp.H229fs
KIRCTCGA-A3-3320-01exon_skip_71516
61093083610931806109315961093160Frame_Shift_Ins-Cp.H229fs
KIRCTCGA-A3-3346-01exon_skip_71516
61093083610931806109315961093160Frame_Shift_Ins-Cp.H229fs
KIRCTCGA-A3-3363-01exon_skip_71516
61093083610931806109315961093160Frame_Shift_Ins-Cp.H229fs
KIRCTCGA-A3-3365-01exon_skip_71516
61093083610931806109315961093160Frame_Shift_Ins-Cp.H229fs
KIRCTCGA-A3-3372-01exon_skip_71516
61093083610931806109315961093160Frame_Shift_Ins-Cp.H229fs
KIRCTCGA-AK-3427-01exon_skip_71516
61093083610931806109315961093160Frame_Shift_Ins-Cp.H229fs
KIRCTCGA-AS-3777-01exon_skip_71516
61093083610931806109315961093160Frame_Shift_Ins-Cp.H229fs
LUADTCGA-44-2665-01exon_skip_71516
61093083610931806109315961093160Frame_Shift_Ins-Cp.H229fs
LUADTCGA-64-1678-01exon_skip_71516
61093083610931806109315961093160Frame_Shift_Ins-Cp.A229fs
LUADTCGA-64-1678-01exon_skip_71516
61093083610931806109315961093160Frame_Shift_Ins-Cp.H229fs
UCECTCGA-B5-A0K2-01exon_skip_71516
61093083610931806109315961093160Frame_Shift_Ins-Cp.A229fs
UCECTCGA-B5-A0K7-01exon_skip_71516
61093083610931806109315961093160Frame_Shift_Ins-Cp.A229fs
UCECTCGA-BG-A0M3-01exon_skip_71516
61093083610931806109315961093160Frame_Shift_Ins-Cp.A229fs
UCECTCGA-BG-A0M9-01exon_skip_71516
61093083610931806109315961093160Frame_Shift_Ins-Cp.A229fs
BLCATCGA-4Z-AA7Q-01exon_skip_71506
61081780610819586108179961081799Nonsense_MutationGAp.Q524*
STADTCGA-CD-A4MG-01exon_skip_71511
61089768610898846108982161089821Nonsense_MutationCAp.G357*
STADTCGA-CD-A4MG-01exon_skip_71511
61089768610898846108982161089821Nonsense_MutationCAp.G357X
UCECTCGA-B5-A0JY-01exon_skip_71522
exon_skip_71521
61094251610943656109432061094320Nonsense_MutationCAp.E199*
STADTCGA-BR-4370-01exon_skip_71522
exon_skip_71521
61094251610943656109432361094323Nonsense_MutationGAp.R198*
STADTCGA-BR-4370-01exon_skip_71522
exon_skip_71521
61094251610943656109432361094323Nonsense_MutationGAp.R198X
CESCTCGA-IR-A3LK-01exon_skip_71523
61096835610970566109683761096837Nonsense_MutationGAp.Q183*
STADTCGA-CD-8534-01exon_skip_71494
61076455610765496107645461076454Splice_SiteCT.
STADTCGA-CD-8534-01exon_skip_71494
61076455610765496107645461076454Splice_SiteCTp.T887_splice
STADTCGA-D7-A6EY-01exon_skip_71522
exon_skip_71521
61094251610943656109436761094368Splice_Site-G.
UCECTCGA-BG-A0M3-01exon_skip_71522
exon_skip_71521
61094251610943656109436761094368Splice_Site-Gp.D184_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
DDB1_61094250_61094365_61096834_61097056_61097429_61097546_TCGA-IR-A3LK-01Sample: TCGA-IR-A3LK-01
Cancer type: CESC
ESID: exon_skip_71523
Skipped exon start: 61096835
Skipped exon end: 61097056
Mutation start: 61096837
Mutation end: 61096837
Mutation type: Nonsense_Mutation
Reference seq: G
Mutation seq: A
AAchange: p.Q183*
exon_skip_129969_CESC_TCGA-IR-A3LK-01.png
boxplot
exon_skip_131474_CESC_TCGA-IR-A3LK-01.png
boxplot
exon_skip_435729_CESC_TCGA-IR-A3LK-01.png
boxplot
exon_skip_457524_CESC_TCGA-IR-A3LK-01.png
boxplot
exon_skip_63491_CESC_TCGA-IR-A3LK-01.png
boxplot
exon_skip_71523_CESC_TCGA-IR-A3LK-01.png
boxplot
exon_skip_7830_CESC_TCGA-IR-A3LK-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
PFEIFFER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE61083757610838656108379961083802Frame_Shift_DelCTGC-p.QQ455fs
JHH4_LIVER61070054610702236107009561070095Missense_MutationGTp.T1024K
KYSE510_OESOPHAGUS61070054610702236107010461070104Missense_MutationGTp.S1021Y
KP3_PANCREAS61070054610702236107016861070168Missense_MutationGCp.L1000V
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE61071337610715076107146761071467Missense_MutationGAp.T901I
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE61071337610715076107147061071470Missense_MutationCTp.R900H
SNU1040_LARGE_INTESTINE61071337610715076107147061071470Missense_MutationCTp.R900H
NCIH661_LUNG61071337610715076107150361071503Missense_MutationCTp.R889Q
639V_URINARY_TRACT61076455610765496107647261076472Missense_MutationCTp.A882T
CCK81_LARGE_INTESTINE61076455610765496107648461076484Missense_MutationCTp.G878R
AM38_CENTRAL_NERVOUS_SYSTEM61077268610774326107733161077331Missense_MutationTCp.M835V
SNU719_STOMACH61077268610774326107737661077376Missense_MutationTGp.K820Q
OCILY3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE61077268610774326107741961077419Missense_MutationGTp.H805Q
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE61077767610778906107780961077809Missense_MutationCTp.E787K
HCC2450_LUNG61077767610778906107781861077818Missense_MutationCTp.E784K
JHUEM7_ENDOMETRIUM61079461610795566107951361079513Missense_MutationCTp.D705N
HEC59_ENDOMETRIUM61079461610795566107955161079551Missense_MutationGAp.A692V
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE61081334610814416108138161081381Missense_MutationGCp.A605G
DU145_PROSTATE61081780610819586108184061081840Missense_MutationAGp.V510A
NCIBL2122_MATCHED_NORMAL_TISSUE61081780610819586108187161081871Missense_MutationCGp.V500L
HEC59_ENDOMETRIUM61081780610819586108190661081906Missense_MutationCTp.S488N
NCIH513_PLEURA61083757610838656108378661083786Missense_MutationCAp.G461C
MONOMAC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE61089768610898846108980061089800Missense_MutationCTp.V364M
MONOMAC6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE61089768610898846108980061089800Missense_MutationCTp.V364M
HCC2998_LARGE_INTESTINE61089768610898846108987861089878Missense_MutationCTp.V338I
SNU1040_LARGE_INTESTINE61089768610898846108987861089878Missense_MutationCTp.V338I
SKUT1_SOFT_TISSUE61090483610905666109050961090509Missense_MutationGAp.R327C
BE2M17_AUTONOMIC_GANGLIA61090483610905666109051861090518Missense_MutationCAp.V324F
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE61094251610943656109425461094254Missense_MutationCTp.A221T
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE61094251610943656109431361094313Missense_MutationTCp.E201G
OVMANA_OVARY61094251610943656109432261094322Missense_MutationCTp.R198Q
SNU1040_LARGE_INTESTINE61094251610943656109434761094347Missense_MutationCTp.V190I
SNUC2A_LARGE_INTESTINE61096835610970566109685861096858Missense_MutationGAp.P176S
SNUC2B_LARGE_INTESTINE61096835610970566109685861096858Missense_MutationGAp.P176S
NCIH630_LARGE_INTESTINE61096835610970566109687661096876Missense_MutationGTp.L170I
SNU1_STOMACH61096835610970566109691261096912Missense_MutationGAp.R158C
SNU1040_LARGE_INTESTINE61096835610970566109698461096984Missense_MutationGAp.R134C
TGBC11TKB_STOMACH61096835610970566109704461097044Missense_MutationGAp.R114C
HEC108_ENDOMETRIUM61099015610991636109904061099040Missense_MutationGAp.A62V
HEC6_ENDOMETRIUM61099015610991636109908661099086Missense_MutationCTp.E47K
LNCAPCLONEFGC_PROSTATE61094251610943656109432361094323Nonsense_MutationGAp.R198*
UMUC16_URINARY_TRACT61070054610702236107022261070222Splice_SiteCTp.A982T
CW2_LARGE_INTESTINE61099015610991636109916261099162Splice_SiteTAp.G21G

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DDB1

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 DDB1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DDB1


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RelatedDrugs for DDB1

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 DDB1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
DDB1C0038356Stomach Neoplasms1CTD_human