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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for DNAI1 |
 Gene summary |
| Gene information | Gene symbol | DNAI1 | Gene ID | 27019 |
| Gene name | dynein axonemal intermediate chain 1 | |
| Synonyms | CILD1|DIC1|ICS1|PCD | |
| Cytomap | 9p13.3 | |
| Type of gene | protein-coding | |
| Description | dynein intermediate chain 1, axonemaldynein, axonemal, intermediate polypeptide 1immotile cilia syndrome 1testis tissue sperm-binding protein Li 87P | |
| Modification date | 20180523 | |
| UniProtAcc | Q9UI46 | |
| Context | PubMed: DNAI1 [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 DNAI1 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 DNAI1 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for DNAI1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_495563 | 9 | 34458886:34459051:34483445:34483478:34485139:34485238 | 34483445:34483478 | ENSG00000122735.11 | ENST00000242317.4,ENST00000545019.1 |
| exon_skip_495572 | 9 | 34489320:34489447:34490009:34490122:34490366:34490486 | 34490009:34490122 | ENSG00000122735.11 | ENST00000437363.1,ENST00000488369.1,ENST00000242317.4 |
| exon_skip_495574 | 9 | 34491492:34491552:34493191:34493326:34497112:34497197 | 34493191:34493326 | ENSG00000122735.11 | ENST00000437363.1,ENST00000242317.4 |
| exon_skip_495575 | 9 | 34501135:34501179:34506624:34506872:34512106:34512196 | 34506624:34506872 | ENSG00000122735.11 | ENST00000242317.4 |
| exon_skip_495582 | 9 | 34506624:34506872:34512106:34512196:34512334:34512422 | 34512106:34512196 | ENSG00000122735.11 | ENST00000242317.4,ENST00000470169.1 |
| exon_skip_495588 | 9 | 34512334:34512422:34513109:34513189:34514391:34514540 | 34513109:34513189 | ENSG00000122735.11 | ENST00000242317.4 |
| exon_skip_495589 | 9 | 34513141:34513189:34514391:34514540:34514637:34514737 | 34514391:34514540 | ENSG00000122735.11 | ENST00000442556.1,ENST00000242317.4 |
| exon_skip_495594 | 9 | 34514637:34514737:34517282:34517465:34520655:34520982 | 34517282:34517465 | ENSG00000122735.11 | ENST00000242317.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DNAI1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_495563 | 9 | 34458886:34459051:34483445:34483478:34485139:34485238 | 34483445:34483478 | ENSG00000122735.11 | ENST00000242317.4,ENST00000545019.1 |
| exon_skip_495564 | 9 | 34485434:34485515:34487943:34488016:34489171:34489199 | 34487943:34488016 | ENSG00000122735.11 | ENST00000488369.1 |
| exon_skip_495572 | 9 | 34489320:34489447:34490009:34490122:34490366:34490486 | 34490009:34490122 | ENSG00000122735.11 | ENST00000437363.1,ENST00000242317.4,ENST00000488369.1 |
| exon_skip_495574 | 9 | 34491492:34491552:34493191:34493326:34497112:34497197 | 34493191:34493326 | ENSG00000122735.11 | ENST00000437363.1,ENST00000242317.4 |
| exon_skip_495575 | 9 | 34501135:34501179:34506624:34506872:34512106:34512196 | 34506624:34506872 | ENSG00000122735.11 | ENST00000242317.4 |
| exon_skip_495582 | 9 | 34506624:34506872:34512106:34512196:34512334:34512422 | 34512106:34512196 | ENSG00000122735.11 | ENST00000242317.4,ENST00000470169.1 |
| exon_skip_495588 | 9 | 34512334:34512422:34513109:34513189:34514391:34514540 | 34513109:34513189 | ENSG00000122735.11 | ENST00000242317.4 |
| exon_skip_495589 | 9 | 34513141:34513189:34514391:34514540:34514637:34514737 | 34514391:34514540 | ENSG00000122735.11 | ENST00000242317.4,ENST00000442556.1 |
| exon_skip_495594 | 9 | 34514637:34514737:34517282:34517465:34520655:34520982 | 34517282:34517465 | ENSG00000122735.11 | ENST00000242317.4 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for DNAI1 |
| 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 |
| ENST00000242317 | 34490009 | 34490122 | Frame-shift |
| ENST00000242317 | 34506624 | 34506872 | Frame-shift |
| ENST00000242317 | 34513109 | 34513189 | Frame-shift |
| ENST00000242317 | 34514391 | 34514540 | Frame-shift |
| ENST00000242317 | 34483445 | 34483478 | In-frame |
| ENST00000242317 | 34493191 | 34493326 | In-frame |
| ENST00000242317 | 34512106 | 34512196 | In-frame |
| ENST00000242317 | 34517282 | 34517465 | 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 |
| ENST00000242317 | 34490009 | 34490122 | Frame-shift |
| ENST00000242317 | 34506624 | 34506872 | Frame-shift |
| ENST00000242317 | 34513109 | 34513189 | Frame-shift |
| ENST00000242317 | 34514391 | 34514540 | Frame-shift |
| ENST00000242317 | 34483445 | 34483478 | In-frame |
| ENST00000242317 | 34493191 | 34493326 | In-frame |
| ENST00000242317 | 34512106 | 34512196 | In-frame |
| ENST00000242317 | 34517282 | 34517465 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DNAI1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| 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 |
| ENST00000242317 | 2516 | 699 | 34483445 | 34483478 | 220 | 252 | 16 | 27 |
| ENST00000242317 | 2516 | 699 | 34493191 | 34493326 | 853 | 987 | 227 | 272 |
| ENST00000242317 | 2516 | 699 | 34512106 | 34512196 | 1483 | 1572 | 437 | 467 |
| ENST00000242317 | 2516 | 699 | 34517282 | 34517465 | 1990 | 2172 | 606 | 667 |
| 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 |
| ENST00000242317 | 2516 | 699 | 34483445 | 34483478 | 220 | 252 | 16 | 27 |
| ENST00000242317 | 2516 | 699 | 34493191 | 34493326 | 853 | 987 | 227 | 272 |
| ENST00000242317 | 2516 | 699 | 34512106 | 34512196 | 1483 | 1572 | 437 | 467 |
| ENST00000242317 | 2516 | 699 | 34517282 | 34517465 | 1990 | 2172 | 606 | 667 |
| 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 |
| Q9UI46 | 16 | 27 | 1 | 699 | Chain | ID=PRO_0000114658;Note=Dynein intermediate chain 1%2C axonemal |
| Q9UI46 | 227 | 272 | 169 | 699 | Alternative sequence | ID=VSP_056964;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9UI46 | 227 | 272 | 1 | 699 | Chain | ID=PRO_0000114658;Note=Dynein intermediate chain 1%2C axonemal |
| Q9UI46 | 437 | 467 | 169 | 699 | Alternative sequence | ID=VSP_056964;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9UI46 | 437 | 467 | 1 | 699 | Chain | ID=PRO_0000114658;Note=Dynein intermediate chain 1%2C axonemal |
| Q9UI46 | 437 | 467 | 422 | 465 | Repeat | Note=WD 3 |
| Q9UI46 | 606 | 667 | 169 | 699 | Alternative sequence | ID=VSP_056964;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9UI46 | 606 | 667 | 1 | 699 | Chain | ID=PRO_0000114658;Note=Dynein intermediate chain 1%2C axonemal |
| Q9UI46 | 606 | 667 | 574 | 612 | Repeat | Note=WD 6 |
| Q9UI46 | 606 | 667 | 618 | 658 | Repeat | Note=WD 7 |
| 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 |
| Q9UI46 | 16 | 27 | 1 | 699 | Chain | ID=PRO_0000114658;Note=Dynein intermediate chain 1%2C axonemal |
| Q9UI46 | 227 | 272 | 169 | 699 | Alternative sequence | ID=VSP_056964;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9UI46 | 227 | 272 | 1 | 699 | Chain | ID=PRO_0000114658;Note=Dynein intermediate chain 1%2C axonemal |
| Q9UI46 | 437 | 467 | 169 | 699 | Alternative sequence | ID=VSP_056964;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9UI46 | 437 | 467 | 1 | 699 | Chain | ID=PRO_0000114658;Note=Dynein intermediate chain 1%2C axonemal |
| Q9UI46 | 437 | 467 | 422 | 465 | Repeat | Note=WD 3 |
| Q9UI46 | 606 | 667 | 169 | 699 | Alternative sequence | ID=VSP_056964;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9UI46 | 606 | 667 | 1 | 699 | Chain | ID=PRO_0000114658;Note=Dynein intermediate chain 1%2C axonemal |
| Q9UI46 | 606 | 667 | 574 | 612 | Repeat | Note=WD 6 |
| Q9UI46 | 606 | 667 | 618 | 658 | Repeat | Note=WD 7 |
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SNVs in the skipped exons for DNAI1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - 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-DD-A39Y-01 | exon_skip_495572 | 34490010 | 34490122 | 34490093 | 34490093 | Frame_Shift_Del | G | - | p.G158fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_495574 | 34493192 | 34493326 | 34493235 | 34493235 | Frame_Shift_Del | A | - | p.E242fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_495574 | 34493192 | 34493326 | 34493276 | 34493276 | Frame_Shift_Del | A | - | p.K257fs |
| LGG | TCGA-DU-A6S3-01 | exon_skip_495589 | 34514392 | 34514540 | 34514457 | 34514458 | Frame_Shift_Del | TG | - | p.TV545fs |
| BRCA | TCGA-D8-A1JP-01 | exon_skip_495589 | 34514392 | 34514540 | 34514447 | 34514447 | Nonsense_Mutation | C | G | p.S542* |
| BRCA | TCGA-E9-A22E-01 | exon_skip_495589 | 34514392 | 34514540 | 34514510 | 34514510 | Nonsense_Mutation | G | A | p.W563* |
| - 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 |
| NCIH1651_LUNG | 34490010 | 34490122 | 34490093 | 34490093 | Frame_Shift_Del | G | - | p.G158fs |
| LN464_CENTRAL_NERVOUS_SYSTEM | 34490010 | 34490122 | 34490022 | 34490022 | Missense_Mutation | C | A | p.S134Y |
| KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 34490010 | 34490122 | 34490057 | 34490057 | Missense_Mutation | G | A | p.E146K |
| MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 34490010 | 34490122 | 34490097 | 34490097 | Missense_Mutation | G | A | p.S159N |
| SNUC2A_LARGE_INTESTINE | 34493192 | 34493326 | 34493227 | 34493227 | Missense_Mutation | G | T | p.E239D |
| MC1010_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 34493192 | 34493326 | 34493313 | 34493313 | Missense_Mutation | C | T | p.S268F |
| SF539_CENTRAL_NERVOUS_SYSTEM | 34506625 | 34506872 | 34506646 | 34506646 | Missense_Mutation | G | A | p.R362Q |
| SISO_CERVIX | 34506625 | 34506872 | 34506657 | 34506657 | Missense_Mutation | C | A | p.L366M |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 34506625 | 34506872 | 34506657 | 34506657 | Missense_Mutation | C | A | p.L366M |
| SNUC5_LARGE_INTESTINE | 34506625 | 34506872 | 34506715 | 34506715 | Missense_Mutation | G | A | p.G385D |
| MKN7_STOMACH | 34506625 | 34506872 | 34506717 | 34506717 | Missense_Mutation | G | A | p.V386I |
| CW2_LARGE_INTESTINE | 34506625 | 34506872 | 34506811 | 34506811 | Missense_Mutation | A | G | p.H417R |
| SNU1040_LARGE_INTESTINE | 34506625 | 34506872 | 34506869 | 34506869 | Missense_Mutation | G | T | p.W436C |
| HT115_LARGE_INTESTINE | 34512107 | 34512196 | 34512125 | 34512125 | Missense_Mutation | G | T | p.D444Y |
| D502MG_CENTRAL_NERVOUS_SYSTEM | 34512107 | 34512196 | 34512167 | 34512167 | Missense_Mutation | G | A | p.G458S |
| TE4_OESOPHAGUS | 34512107 | 34512196 | 34512191 | 34512191 | Missense_Mutation | G | T | p.V466L |
| HCC15_LUNG | 34517283 | 34517465 | 34517366 | 34517366 | Missense_Mutation | C | A | p.H634Q |
| HCC15_LUNG | 34517283 | 34517465 | 34517367 | 34517367 | Missense_Mutation | G | A | p.V635M |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 34517283 | 34517465 | 34517367 | 34517367 | Missense_Mutation | G | A | p.V635M |
| SNU245_BILIARY_TRACT | 34517283 | 34517465 | 34517394 | 34517394 | Missense_Mutation | A | G | p.I644V |
| SNU81_LARGE_INTESTINE | 34517283 | 34517465 | 34517429 | 34517429 | Missense_Mutation | C | A | p.S655R |
| SW954_VULVA | 34506625 | 34506872 | 34506773 | 34506773 | Nonsense_Mutation | T | G | p.Y404* |
| SNU407_LARGE_INTESTINE | 34493192 | 34493326 | 34493325 | 34493325 | Splice_Site | A | C | p.Q272P |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DNAI1 |
| 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 DNAI1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DNAI1 |
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RelatedDrugs for DNAI1 |
| 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 DNAI1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| DNAI1 | C0022521 | Kartagener Syndrome | 2 | CTD_human;ORPHANET;UNIPROT |
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