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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for NEIL2 |
Gene summary |
Gene information | Gene symbol | NEIL2 | Gene ID | 252969 |
Gene name | nei like DNA glycosylase 2 | |
Synonyms | NEH2|NEI2 | |
Cytomap | 8p23.1 | |
Type of gene | protein-coding | |
Description | endonuclease 8-like 2DNA glycosylase/AP lyase Neil2DNA-(apurinic or apyrimidinic site) lyase Neil2nei endonuclease VIII-like 2nei homolog 2nei-like protein 2 | |
Modification date | 20180523 | |
UniProtAcc | Q969S2 | |
Context | PubMed: NEIL2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
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Exon skipping events across known transcript of Ensembl for NEIL2 from UCSC genome browser |
Skipped 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. |
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Gene isoform structures and expression levels for NEIL2 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for NEIL2 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_481150 | 8 | 11627218:11627300:11627682:11627844:11628954:11629094 | 11627682:11627844 | ENSG00000154328.11 | ENST00000528323.1,ENST00000455213.2 |
exon_skip_481156 | 8 | 11627218:11627300:11628954:11629094:11640711:11640908 | 11628954:11629094 | ENSG00000154328.11 | ENST00000528113.1 |
exon_skip_481163 | 8 | 11627218:11627300:11637106:11637459:11640711:11640908 | 11637106:11637459 | ENSG00000154328.11 | ENST00000403422.3 |
exon_skip_481164 | 8 | 11627682:11627844:11628954:11629094:11637106:11637232 | 11628954:11629094 | ENSG00000154328.11 | ENST00000284503.6,ENST00000455213.2 |
exon_skip_481174 | 8 | 11629019:11629094:11637106:11637459:11640711:11640908 | 11637106:11637459 | ENSG00000154328.11 | ENST00000436750.3,ENST00000284503.6,ENST00000455213.2 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NEIL2 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_481150 | 8 | 11627218:11627300:11627682:11627844:11628954:11629094 | 11627682:11627844 | ENSG00000154328.11 | ENST00000455213.2,ENST00000528323.1 |
exon_skip_481156 | 8 | 11627218:11627300:11628954:11629094:11640711:11640908 | 11628954:11629094 | ENSG00000154328.11 | ENST00000528113.1 |
exon_skip_481163 | 8 | 11627218:11627300:11637106:11637459:11640711:11640908 | 11637106:11637459 | ENSG00000154328.11 | ENST00000403422.3 |
exon_skip_481164 | 8 | 11627682:11627844:11628954:11629094:11637106:11637232 | 11628954:11629094 | ENSG00000154328.11 | ENST00000455213.2,ENST00000284503.6 |
exon_skip_481167 | 8 | 11627682:11627844:11628954:11629099:11640711:11640908 | 11628954:11629099 | ENSG00000154328.11 | ENST00000528323.1 |
exon_skip_481174 | 8 | 11629019:11629094:11637106:11637459:11640711:11640908 | 11637106:11637459 | ENSG00000154328.11 | ENST00000436750.3,ENST00000455213.2,ENST00000284503.6 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for NEIL2 |
Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000284503 | 11628954 | 11629094 | 5CDS-5UTR |
ENST00000455213 | 11628954 | 11629094 | 5CDS-5UTR |
ENST00000455213 | 11627682 | 11627844 | 5UTR-5UTR |
ENST00000284503 | 11637106 | 11637459 | Frame-shift |
ENST00000436750 | 11637106 | 11637459 | Frame-shift |
ENST00000455213 | 11637106 | 11637459 | Frame-shift |
Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000284503 | 11628954 | 11629094 | 5CDS-5UTR |
ENST00000455213 | 11628954 | 11629094 | 5CDS-5UTR |
ENST00000455213 | 11627682 | 11627844 | 5UTR-5UTR |
ENST00000284503 | 11637106 | 11637459 | Frame-shift |
ENST00000436750 | 11637106 | 11637459 | Frame-shift |
ENST00000455213 | 11637106 | 11637459 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for NEIL2 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
Loci of skipped exons in TCGA 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 GTEx 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 |
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 feature | Description of feature |
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 feature | Description of feature |
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SNVs in the skipped exons for NEIL2 |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
- Non-synonymous mutations located in the skipped exons in TCGA. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
KIRP | TCGA-GL-8500-01 | exon_skip_481163 exon_skip_481174 | 11637107 | 11637459 | 11637150 | 11637150 | Frame_Shift_Del | A | - | p.E61fs |
LIHC | TCGA-DD-A3A1-01 | exon_skip_481163 exon_skip_481174 | 11637107 | 11637459 | 11637236 | 11637236 | Frame_Shift_Del | G | - | p.G90fs |
LUSC | TCGA-66-2754-01 | exon_skip_481163 exon_skip_481174 | 11637107 | 11637459 | 11637323 | 11637323 | Nonsense_Mutation | G | T | p.E119* |
- Depth of coverage in the three exons composing exon skipping event |
Depth of coverage in three exons | Mutation description |
- 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 |
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 11628955 | 11629094 | 11629015 | 11629015 | Missense_Mutation | A | G | p.Q20R |
JHUEM7_ENDOMETRIUM | 11637107 | 11637459 | 11637122 | 11637122 | Missense_Mutation | T | G | p.L52V |
KYSE50_OESOPHAGUS | 11637107 | 11637459 | 11637242 | 11637242 | Missense_Mutation | C | T | p.P92S |
KYSE180_OESOPHAGUS | 11637107 | 11637459 | 11637279 | 11637279 | Missense_Mutation | C | G | p.S104C |
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 11637107 | 11637459 | 11637332 | 11637332 | Missense_Mutation | G | A | p.A122T |
HEC1A_ENDOMETRIUM | 11637107 | 11637459 | 11637339 | 11637339 | Missense_Mutation | C | T | p.A124V |
HEC1_ENDOMETRIUM | 11637107 | 11637459 | 11637339 | 11637339 | Missense_Mutation | C | T | p.A124V |
HEC1B_ENDOMETRIUM | 11637107 | 11637459 | 11637339 | 11637339 | Missense_Mutation | C | T | p.A124V |
HEC251_ENDOMETRIUM | 11637107 | 11637459 | 11637406 | 11637406 | Missense_Mutation | C | A | p.F146L |
MEWO_SKIN | 11637107 | 11637459 | 11637414 | 11637414 | Missense_Mutation | C | T | p.A149V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NEIL2 |
sQTL information located at the skipped exons. |
Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NEIL2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NEIL2 |
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RelatedDrugs for NEIL2 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Q969S2 | DB01592 | Iron | Endonuclease 8-like 2 | small molecule | approved | |
Q969S2 | DB14488 | Ferrous gluconate | Endonuclease 8-like 2 | small molecule | approved | |
Q969S2 | DB14489 | Ferrous succinate | Endonuclease 8-like 2 | small molecule | approved | |
Q969S2 | DB14490 | Ferrous ascorbate | Endonuclease 8-like 2 | small molecule | approved | |
Q969S2 | DB14491 | Ferrous fumarate | Endonuclease 8-like 2 | small molecule | approved | |
Q969S2 | DB14501 | Ferrous glycine sulfate | Endonuclease 8-like 2 | small molecule | approved |
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RelatedDiseases for NEIL2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |