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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 DNAI2 |
Gene summary |
Gene information | Gene symbol | DNAI2 | Gene ID | 64446 |
Gene name | dynein axonemal intermediate chain 2 | |
Synonyms | CILD9|DIC2 | |
Cytomap | 17q25.1 | |
Type of gene | protein-coding | |
Description | dynein intermediate chain 2, axonemaldynein, axonemal, intermediate polypeptide 2 | |
Modification date | 20180523 | |
UniProtAcc | Q9GZS0 | |
Context | PubMed: DNAI2 [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 DNAI2 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 DNAI2 |
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 DNAI2 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_155752 | 17 | 72281178:72281340:72283115:72283237:72285732:72285875 | 72283115:72283237 | ENSG00000171595.9 | ENST00000579490.1,ENST00000311014.6,ENST00000582036.1,ENST00000446837.2 |
exon_skip_155753 | 17 | 72285732:72285875:72287158:72287272:72295856:72295996 | 72287158:72287272 | ENSG00000171595.9 | ENST00000579490.1,ENST00000307504.5,ENST00000311014.6,ENST00000579055.1,ENST00000582036.1,ENST00000446837.2 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DNAI2 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_155752 | 17 | 72281178:72281340:72283115:72283237:72285732:72285875 | 72283115:72283237 | ENSG00000171595.9 | ENST00000582036.1,ENST00000311014.6,ENST00000579490.1,ENST00000446837.2 |
exon_skip_155753 | 17 | 72285732:72285875:72287158:72287272:72295856:72295996 | 72287158:72287272 | ENSG00000171595.9 | ENST00000582036.1,ENST00000579055.1,ENST00000307504.5,ENST00000311014.6,ENST00000579490.1,ENST00000446837.2 |
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 DNAI2 |
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 |
ENST00000311014 | 72283115 | 72283237 | Frame-shift |
ENST00000446837 | 72283115 | 72283237 | Frame-shift |
ENST00000311014 | 72287158 | 72287272 | In-frame |
ENST00000446837 | 72287158 | 72287272 | In-frame |
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 |
ENST00000311014 | 72283115 | 72283237 | Frame-shift |
ENST00000446837 | 72283115 | 72283237 | Frame-shift |
ENST00000311014 | 72287158 | 72287272 | In-frame |
ENST00000446837 | 72287158 | 72287272 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DNAI2 |
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 |
ENST00000311014 | 2253 | 605 | 72287158 | 72287272 | 678 | 791 | 203 | 241 |
ENST00000446837 | 2491 | 605 | 72287158 | 72287272 | 917 | 1030 | 203 | 241 |
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 |
ENST00000311014 | 2253 | 605 | 72287158 | 72287272 | 678 | 791 | 203 | 241 |
ENST00000446837 | 2491 | 605 | 72287158 | 72287272 | 917 | 1030 | 203 | 241 |
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 |
Q9GZS0 | 203 | 241 | 1 | 605 | Chain | ID=PRO_0000114659;Note=Dynein intermediate chain 2%2C axonemal |
Q9GZS0 | 203 | 241 | 1 | 605 | Chain | ID=PRO_0000114659;Note=Dynein intermediate chain 2%2C axonemal |
Q9GZS0 | 203 | 241 | 150 | 203 | Repeat | Note=WD 1 |
Q9GZS0 | 203 | 241 | 150 | 203 | Repeat | Note=WD 1 |
Q9GZS0 | 203 | 241 | 208 | 246 | Repeat | Note=WD 2 |
Q9GZS0 | 203 | 241 | 208 | 246 | Repeat | Note=WD 2 |
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 |
Q9GZS0 | 203 | 241 | 1 | 605 | Chain | ID=PRO_0000114659;Note=Dynein intermediate chain 2%2C axonemal |
Q9GZS0 | 203 | 241 | 1 | 605 | Chain | ID=PRO_0000114659;Note=Dynein intermediate chain 2%2C axonemal |
Q9GZS0 | 203 | 241 | 150 | 203 | Repeat | Note=WD 1 |
Q9GZS0 | 203 | 241 | 150 | 203 | Repeat | Note=WD 1 |
Q9GZS0 | 203 | 241 | 208 | 246 | Repeat | Note=WD 2 |
Q9GZS0 | 203 | 241 | 208 | 246 | Repeat | Note=WD 2 |
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SNVs in the skipped exons for DNAI2 |
- 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 |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_155753 | 72287159 | 72287272 | 72287223 | 72287223 | Frame_Shift_Del | C | - | p.N282fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_155753 | 72287159 | 72287272 | 72287247 | 72287247 | Frame_Shift_Del | G | - | p.L290fs |
BRCA | TCGA-AR-A0U4-01 | exon_skip_155753 | 72287159 | 72287272 | 72287263 | 72287263 | Nonsense_Mutation | G | T | p.G239* |
- 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 |
KYSE50_OESOPHAGUS | 72287159 | 72287272 | 72287264 | 72287264 | Missense_Mutation | G | C | p.G239A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DNAI2 |
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 DNAI2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DNAI2 |
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RelatedDrugs for DNAI2 |
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 |
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RelatedDiseases for DNAI2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |