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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for ERCC2 |
 Gene summary |
| Gene information | Gene symbol | ERCC2 | Gene ID | 2068 |
| Gene name | ERCC excision repair 2, TFIIH core complex helicase subunit | |
| Synonyms | COFS2|EM9|TFIIH|TTD|TTD1|XPD | |
| Cytomap | 19q13.32 | |
| Type of gene | protein-coding | |
| Description | general transcription and DNA repair factor IIH helicase subunit XPDBTF2 p80CXPDDNA excision repair protein ERCC-2DNA repair protein complementing XP-D cellsTFIIH 80 kDa subunitTFIIH basal transcription factor complex 80 kDa subunitTFIIH basal tran | |
| Modification date | 20200315 | |
| UniProtAcc | A0A1B1PFW1, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| ERCC2 | GO:0006283 | transcription-coupled nucleotide-excision repair | 8663148 |
| ERCC2 | GO:0006366 | transcription by RNA polymerase II | 9852112 |
| ERCC2 | GO:0045893 | positive regulation of transcription, DNA-templated | 8692842 |
| ERCC2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 8692841 |
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Gene structures and expression levels for ERCC2 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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. |
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ENSG00000104884
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ERCC2 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_133859 | chr19 | 45354730:45354851:45355665:45355728:45357270:45357371 | 45355665:45355728 |
| exon_skip_134218 | chr19 | 45364236:45364331:45364838:45364954:45365042:45365158 | 45364838:45364954 |
| exon_skip_160548 | chr19 | 45355665:45355728:45357270:45357371:45357474:45357543 | 45357270:45357371 |
| exon_skip_166173 | chr19 | 45365042:45365158:45368630:45368743:45368930:45368992 | 45368630:45368743 |
| exon_skip_168387 | chr19 | 45368930:45368992:45369070:45369147:45370133:45370232 | 45369070:45369147 |
| exon_skip_191259 | chr19 | 45369070:45369147:45370133:45370232:45370536:45370555 | 45370133:45370232 |
| exon_skip_194163 | chr19 | 45364838:45364954:45365042:45365158:45368630:45368743 | 45365042:45365158 |
| exon_skip_211022 | chr19 | 45364236:45364331:45364424:45364547:45368630:45368743 | 45364424:45364547 |
| exon_skip_230312 | chr19 | 45354740:45354851:45355665:45355728:45357270:45357371 | 45355665:45355728 |
| exon_skip_242003 | chr19 | 45357474:45357543:45357630:45357699:45361524:45361642 | 45357630:45357699 |
| exon_skip_31161 | chr19 | 45364091:45364119:45364235:45364331:45368630:45368743 | 45364235:45364331 |
| exon_skip_54112 | chr19 | 45369071:45369147:45370133:45370232:45370536:45370555 | 45370133:45370232 |
| exon_skip_60925 | chr19 | 45361524:45361642:45363743:45363911:45363986:45364057 | 45363743:45363911 |
| exon_skip_99177 | chr19 | 45364236:45364331:45364424:45364547:45364838:45364954 | 45364424:45364547 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for ERCC2 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000391945 | 45355665 | 45355728 | Frame-shift |
| ENST00000391945 | 45357630 | 45357699 | Frame-shift |
| ENST00000391945 | 45363743 | 45363911 | Frame-shift |
| ENST00000391945 | 45364424 | 45364547 | Frame-shift |
| ENST00000391945 | 45365042 | 45365158 | In-frame |
| ENST00000391945 | 45368630 | 45368743 | In-frame |
| ENST00000391945 | 45369070 | 45369147 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000391945 | 45355665 | 45355728 | Frame-shift |
| ENST00000391945 | 45357630 | 45357699 | Frame-shift |
| ENST00000391945 | 45364424 | 45364547 | Frame-shift |
| ENST00000391945 | 45369070 | 45369147 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000391945 | 45355665 | 45355728 | Frame-shift |
| ENST00000391945 | 45357630 | 45357699 | Frame-shift |
| ENST00000391945 | 45363743 | 45363911 | Frame-shift |
| ENST00000391945 | 45364424 | 45364547 | Frame-shift |
| ENST00000391945 | 45357270 | 45357371 | In-frame |
| ENST00000391945 | 45368630 | 45368743 | In-frame |
| ENST00000391945 | 45369070 | 45369147 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ERCC2 |
p-ENSG00000104884_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000391945 | 4139 | 760 | 45369070 | 45369147 | 153 | 229 | 35 | 60 |
| ENST00000391945 | 4139 | 760 | 45368630 | 45368743 | 294 | 406 | 82 | 119 |
| ENST00000391945 | 4139 | 760 | 45365042 | 45365158 | 408 | 523 | 120 | 158 |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000391945 | 4139 | 760 | 45369070 | 45369147 | 153 | 229 | 35 | 60 |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000391945 | 4139 | 760 | 45369070 | 45369147 | 153 | 229 | 35 | 60 |
| ENST00000391945 | 4139 | 760 | 45368630 | 45368743 | 294 | 406 | 82 | 119 |
| ENST00000391945 | 4139 | 760 | 45357270 | 45357371 | 1425 | 1525 | 459 | 492 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P18074 | 35 | 60 | 1 | 760 | Chain | ID=PRO_0000101980;Note=General transcription and DNA repair factor IIH helicase subunit XPD |
| P18074 | 35 | 60 | 7 | 283 | Domain | Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00541 |
| P18074 | 35 | 60 | 48 | 48 | Mutagenesis | Note=Decreased transcriptional activity of the reconstituted TFIIH complex. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10024882;Dbxref=PMID:10024882 |
| P18074 | 35 | 60 | 47 | 47 | Natural variant | ID=VAR_008187;Note=In XP-D. G->R |
| P18074 | 35 | 60 | 42 | 49 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00541 |
| P18074 | 82 | 119 | 1 | 760 | Chain | ID=PRO_0000101980;Note=General transcription and DNA repair factor IIH helicase subunit XPD |
| P18074 | 82 | 119 | 7 | 283 | Domain | Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00541 |
| P18074 | 82 | 119 | 116 | 116 | Metal binding | Note=Iron-sulfur (4Fe-4S);Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P18074 | 82 | 119 | 112 | 112 | Natural variant | ID=VAR_003622;Note=In TTD1 and XP-D. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11709541,ECO:0000269|PubMed:7920640,ECO:0000269|PubMed:9758621;Dbxref=dbSNP:rs121913020,PMID:11709541,PMID:7920640,PMID:9758621 |
| P18074 | 120 | 158 | 1 | 760 | Chain | ID=PRO_0000101980;Note=General transcription and DNA repair factor IIH helicase subunit XPD |
| P18074 | 120 | 158 | 7 | 283 | Domain | Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00541 |
| P18074 | 120 | 158 | 134 | 134 | Metal binding | Note=Iron-sulfur (4Fe-4S);Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P18074 | 120 | 158 | 155 | 155 | Metal binding | Note=Iron-sulfur (4Fe-4S);Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P18074 | 35 | 60 | 1 | 760 | Chain | ID=PRO_0000101980;Note=General transcription and DNA repair factor IIH helicase subunit XPD |
| P18074 | 35 | 60 | 7 | 283 | Domain | Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00541 |
| P18074 | 35 | 60 | 48 | 48 | Mutagenesis | Note=Decreased transcriptional activity of the reconstituted TFIIH complex. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10024882;Dbxref=PMID:10024882 |
| P18074 | 35 | 60 | 47 | 47 | Natural variant | ID=VAR_008187;Note=In XP-D. G->R |
| P18074 | 35 | 60 | 42 | 49 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00541 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P18074 | 35 | 60 | 1 | 760 | Chain | ID=PRO_0000101980;Note=General transcription and DNA repair factor IIH helicase subunit XPD |
| P18074 | 35 | 60 | 7 | 283 | Domain | Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00541 |
| P18074 | 35 | 60 | 48 | 48 | Mutagenesis | Note=Decreased transcriptional activity of the reconstituted TFIIH complex. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10024882;Dbxref=PMID:10024882 |
| P18074 | 35 | 60 | 47 | 47 | Natural variant | ID=VAR_008187;Note=In XP-D. G->R |
| P18074 | 35 | 60 | 42 | 49 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00541 |
| P18074 | 82 | 119 | 1 | 760 | Chain | ID=PRO_0000101980;Note=General transcription and DNA repair factor IIH helicase subunit XPD |
| P18074 | 82 | 119 | 7 | 283 | Domain | Note=Helicase ATP-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00541 |
| P18074 | 82 | 119 | 116 | 116 | Metal binding | Note=Iron-sulfur (4Fe-4S);Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P18074 | 82 | 119 | 112 | 112 | Natural variant | ID=VAR_003622;Note=In TTD1 and XP-D. R->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11709541,ECO:0000269|PubMed:7920640,ECO:0000269|PubMed:9758621;Dbxref=dbSNP:rs121913020,PMID:11709541,PMID:7920640,PMID:9758621 |
| P18074 | 459 | 492 | 430 | 760 | Alternative sequence | ID=VSP_043134;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.4 |
| P18074 | 459 | 492 | 1 | 760 | Chain | ID=PRO_0000101980;Note=General transcription and DNA repair factor IIH helicase subunit XPD |
| P18074 | 459 | 492 | 461 | 461 | Natural variant | ID=VAR_003623;Note=In XP-D and TTD1. L->V;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:7849702,ECO:0000269|PubMed:9195225,ECO:0000269|PubMed:9758621;Dbxref=dbSNP:rs121913016,PMID:7849702,PMID:9195225,PMID:9758621 |
| P18074 | 459 | 492 | 482 | 482 | Natural variant | ID=VAR_008190;Note=In TTD1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9758621;Dbxref=PMID:9758621 |
| P18074 | 459 | 492 | 485 | 485 | Natural variant | ID=VAR_017283;Note=In XP-D%3B the corresponding mutation in fission yeast causes complete loss of activity. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11709541;Dbxref=dbSNP:rs121913025,PMID:11709541 |
| P18074 | 459 | 492 | 487 | 487 | Natural variant | ID=VAR_017284;Note=In TTD1. R->G |
| P18074 | 459 | 492 | 488 | 493 | Natural variant | ID=VAR_003624;Note=In TTD1%3B mild. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:7920640;Dbxref=PMID:7920640 |
| P18074 | 459 | 492 | 438 | 637 | Region | Note=Mediates interaction with MMS19 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ERCC2 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for ERCC2 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for ERCC2 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ERCC2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for ERCC2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ERCC2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ERCC2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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