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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 NTHL1 |
 Gene summary |
| Gene information | Gene symbol | NTHL1 | Gene ID | 4913 |
| Gene name | nth like DNA glycosylase 1 | |
| Synonyms | FAP3|NTH1|OCTS3|hNTH1 | |
| Cytomap | 16p13.3 | |
| Type of gene | protein-coding | |
| Description | endonuclease III-like protein 1DNA glycoslyase/AP lyaseDNA glycosylase/AP lyasebifunctional DNA N-glycoslyase/DNA-(apurinic or apyrimidinic site) lyasebifunctional DNA N-glycosylase/DNA-(apurinic or apyrimidinic site) lyasenth endonuclease III-like 1 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| NTHL1 | GO:0006285 | base-excision repair, AP site formation | 15358233 |
| NTHL1 | GO:0006296 | nucleotide-excision repair, DNA incision, 5'-to lesion | 8990169 |
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Gene structures and expression levels for NTHL1 |
| 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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ENSG00000065057
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | DOWN | ENST00000561862.5 | NTHL1-203:retained_intron:NTHL1 | 2.145815e+01 | -8.517341e-01 | 8.489207e-08 | 1.846503e-06 |
| CB | DOWN | ENST00000562951.5 | NTHL1-205:lncRNA:NTHL1 | 7.998961e+00 | -3.881228e+00 | 2.643633e-06 | 3.425598e-05 |
| TC | DOWN | ENST00000562951.5 | NTHL1-205:lncRNA:NTHL1 | 1.705215e+01 | -2.451665e+00 | 1.207503e-03 | 1.142597e-02 |
| 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 NTHL1 |
| 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_10270 | chr16 | 2044630:2044800:2046128:2046366:2047709:2047743 | 2046128:2046366 |
| exon_skip_149794 | chr16 | 2043567:2043726:2044630:2044800:2046128:2046363 | 2044630:2044800 |
| exon_skip_179099 | chr16 | 2043567:2043726:2046128:2046366:2047709:2047743 | 2046128:2046366 |
| exon_skip_232728 | chr16 | 2040133:2040238:2042002:2042146:2043567:2043726 | 2042002:2042146 |
| exon_skip_247951 | chr16 | 2044630:2044800:2046280:2046366:2047709:2047743 | 2046280:2046366 |
| exon_skip_95910 | chr16 | 2043567:2043726:2044630:2044800:2046128:2046190 | 2044630:2044800 |
| 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 NTHL1 |
| 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 |
| ENST00000219066 | 2044630 | 2044800 | 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 |
| 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 |
| ENST00000219066 | 2044630 | 2044800 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NTHL1 |
p-ENSG00000065057_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 |
| ENST00000219066 | 1084 | 312 | 2044630 | 2044800 | 398 | 567 | 126 | 182 |
| 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 |
| 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 |
| ENST00000219066 | 1084 | 312 | 2044630 | 2044800 | 398 | 567 | 126 | 182 |
| 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 |
| P78549 | 126 | 182 | 31 | 312 | Chain | ID=PRO_0000102227;Note=Endonuclease III-like protein 1 |
| P78549 | 126 | 182 | 176 | 176 | Natural variant | ID=VAR_016127;Note=I->T;Dbxref=dbSNP:rs1805378 |
| P78549 | 126 | 182 | 151 | 151 | Sequence conflict | Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P78549 | 126 | 182 | 160 | 160 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| 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 |
| P78549 | 126 | 182 | 31 | 312 | Chain | ID=PRO_0000102227;Note=Endonuclease III-like protein 1 |
| P78549 | 126 | 182 | 176 | 176 | Natural variant | ID=VAR_016127;Note=I->T;Dbxref=dbSNP:rs1805378 |
| P78549 | 126 | 182 | 151 | 151 | Sequence conflict | Note=M->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P78549 | 126 | 182 | 160 | 160 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in NTHL1 |
| 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 NTHL1 |
| - 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 NTHL1 |
| 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 NTHL1 |
| 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 NTHL1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for NTHL1 |
| 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 NTHL1 |
| 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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