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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 DNAH9 |
 Gene summary |
| Gene information | Gene symbol | DNAH9 | Gene ID | 1770 |
| Gene name | dynein axonemal heavy chain 9 | |
| Synonyms | DNAH17L|DNEL1|DYH9|Dnahc9|HL-20|HL20 | |
| Cytomap | 17p12 | |
| Type of gene | protein-coding | |
| Description | dynein heavy chain 9, axonemalDNAH9 variant proteinaxonemal beta dynein heavy chain 9ciliary dynein heavy chain 9dynein, axonemal, heavy polypeptide 9 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9NYC9 | |
| Context | PubMed: DNAH9 [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 DNAH9 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 DNAH9 |
| 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 DNAH9 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_149176 | 17 | 11532733:11532901:11535903:11536020:11539950:11540101 | 11535903:11536020 | ENSG00000007174.13 | ENST00000262442.4,ENST00000454412.2 |
| exon_skip_149177 | 17 | 11543586:11543701:11547947:11548016:11550388:11550515 | 11547947:11548016 | ENSG00000007174.13 | ENST00000262442.4,ENST00000454412.2 |
| exon_skip_149179 | 17 | 11584039:11584206:11592882:11593753:11597184:11597315 | 11592882:11593753 | ENSG00000007174.13 | ENST00000262442.4,ENST00000454412.2 |
| exon_skip_149180 | 17 | 11772450:11772570:11774914:11775103:11778265:11778501 | 11774914:11775103 | ENSG00000007174.13 | ENST00000262442.4,ENST00000454412.2 |
| exon_skip_149181 | 17 | 11786902:11787067:11790141:11790282:11795093:11795264 | 11790141:11790282 | ENSG00000007174.13 | ENST00000608377.1,ENST00000396001.2,ENST00000262442.4,ENST00000454412.2 |
| exon_skip_149182 | 17 | 11827130:11827258:11833182:11833410:11835330:11835522 | 11833182:11833410 | ENSG00000007174.13 | ENST00000608377.1,ENST00000396001.2,ENST00000262442.4 |
| exon_skip_149183 | 17 | 11833182:11833410:11835330:11835522:11837196:11837388 | 11835330:11835522 | ENSG00000007174.13 | ENST00000608377.1,ENST00000396001.2,ENST00000262442.4 |
| exon_skip_149184 | 17 | 11837196:11837388:11840668:11840839:11845619:11845802 | 11840668:11840839 | ENSG00000007174.13 | ENST00000608377.1,ENST00000396001.2,ENST00000262442.4,ENST00000454412.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DNAH9 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_149176 | 17 | 11532733:11532901:11535903:11536020:11539950:11540101 | 11535903:11536020 | ENSG00000007174.13 | ENST00000262442.4,ENST00000454412.2 |
| exon_skip_149177 | 17 | 11543586:11543701:11547947:11548016:11550388:11550515 | 11547947:11548016 | ENSG00000007174.13 | ENST00000262442.4,ENST00000454412.2 |
| exon_skip_149179 | 17 | 11584039:11584206:11592882:11593753:11597184:11597315 | 11592882:11593753 | ENSG00000007174.13 | ENST00000262442.4,ENST00000454412.2 |
| exon_skip_149180 | 17 | 11772450:11772570:11774914:11775103:11778265:11778501 | 11774914:11775103 | ENSG00000007174.13 | ENST00000262442.4,ENST00000454412.2 |
| exon_skip_149181 | 17 | 11786902:11787067:11790141:11790282:11795093:11795264 | 11790141:11790282 | ENSG00000007174.13 | ENST00000262442.4,ENST00000454412.2,ENST00000608377.1,ENST00000396001.2 |
| exon_skip_149182 | 17 | 11827130:11827258:11833182:11833410:11835330:11835522 | 11833182:11833410 | ENSG00000007174.13 | ENST00000262442.4,ENST00000608377.1,ENST00000396001.2 |
| exon_skip_149183 | 17 | 11833182:11833410:11835330:11835522:11837196:11837388 | 11835330:11835522 | ENSG00000007174.13 | ENST00000262442.4,ENST00000608377.1,ENST00000396001.2 |
| 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 DNAH9 |
| 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 |
| ENST00000262442 | 11592882 | 11593753 | Frame-shift |
| ENST00000262442 | 11535903 | 11536020 | In-frame |
| ENST00000262442 | 11547947 | 11548016 | In-frame |
| ENST00000262442 | 11774914 | 11775103 | In-frame |
| ENST00000262442 | 11790141 | 11790282 | In-frame |
| ENST00000262442 | 11833182 | 11833410 | In-frame |
| ENST00000262442 | 11835330 | 11835522 | In-frame |
| ENST00000262442 | 11840668 | 11840839 | 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 |
| ENST00000262442 | 11592882 | 11593753 | Frame-shift |
| ENST00000262442 | 11535903 | 11536020 | In-frame |
| ENST00000262442 | 11547947 | 11548016 | In-frame |
| ENST00000262442 | 11774914 | 11775103 | In-frame |
| ENST00000262442 | 11790141 | 11790282 | In-frame |
| ENST00000262442 | 11833182 | 11833410 | In-frame |
| ENST00000262442 | 11835330 | 11835522 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DNAH9 |
| 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 |
| ENST00000262442 | 13767 | 4486 | 11535903 | 11536020 | 1587 | 1703 | 506 | 545 |
| ENST00000262442 | 13767 | 4486 | 11547947 | 11548016 | 1970 | 2038 | 634 | 656 |
| ENST00000262442 | 13767 | 4486 | 11774914 | 11775103 | 10122 | 10310 | 3351 | 3414 |
| ENST00000262442 | 13767 | 4486 | 11790141 | 11790282 | 11040 | 11180 | 3657 | 3704 |
| ENST00000262442 | 13767 | 4486 | 11833182 | 11833410 | 11946 | 12173 | 3959 | 4035 |
| ENST00000262442 | 13767 | 4486 | 11835330 | 11835522 | 12174 | 12365 | 4035 | 4099 |
| ENST00000262442 | 13767 | 4486 | 11840668 | 11840839 | 12558 | 12728 | 4163 | 4220 |
| 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 |
| ENST00000262442 | 13767 | 4486 | 11535903 | 11536020 | 1587 | 1703 | 506 | 545 |
| ENST00000262442 | 13767 | 4486 | 11547947 | 11548016 | 1970 | 2038 | 634 | 656 |
| ENST00000262442 | 13767 | 4486 | 11774914 | 11775103 | 10122 | 10310 | 3351 | 3414 |
| ENST00000262442 | 13767 | 4486 | 11790141 | 11790282 | 11040 | 11180 | 3657 | 3704 |
| ENST00000262442 | 13767 | 4486 | 11833182 | 11833410 | 11946 | 12173 | 3959 | 4035 |
| ENST00000262442 | 13767 | 4486 | 11835330 | 11835522 | 12174 | 12365 | 4035 | 4099 |
| 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 |
| Q9NYC9 | 506 | 545 | 1 | 3688 | Alternative sequence | ID=VSP_043443;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NYC9 | 506 | 545 | 1 | 4486 | Chain | ID=PRO_0000114632;Note=Dynein heavy chain 9%2C axonemal |
| Q9NYC9 | 506 | 545 | 504 | 529 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NYC9 | 506 | 545 | 1 | 1831 | Region | Note=Stem;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9NYC9 | 634 | 656 | 1 | 3688 | Alternative sequence | ID=VSP_043443;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NYC9 | 634 | 656 | 1 | 4486 | Chain | ID=PRO_0000114632;Note=Dynein heavy chain 9%2C axonemal |
| Q9NYC9 | 634 | 656 | 639 | 662 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NYC9 | 634 | 656 | 1 | 1831 | Region | Note=Stem;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9NYC9 | 3351 | 3414 | 1 | 3688 | Alternative sequence | ID=VSP_043443;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NYC9 | 3351 | 3414 | 1 | 4486 | Chain | ID=PRO_0000114632;Note=Dynein heavy chain 9%2C axonemal |
| Q9NYC9 | 3657 | 3704 | 1 | 3688 | Alternative sequence | ID=VSP_043443;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NYC9 | 3657 | 3704 | 1 | 4486 | Chain | ID=PRO_0000114632;Note=Dynein heavy chain 9%2C axonemal |
| Q9NYC9 | 3657 | 3704 | 3640 | 3675 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NYC9 | 3657 | 3704 | 3664 | 3664 | Natural variant | ID=VAR_036216;Note=In a breast cancer sample%3B somatic mutation. T->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=dbSNP:rs138874996,PMID:16959974 |
| Q9NYC9 | 3657 | 3704 | 3678 | 3678 | Sequence conflict | Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NYC9 | 3959 | 4035 | 3961 | 4036 | Alternative sequence | ID=VSP_035285;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9205841;Dbxref=PMID:9205841 |
| Q9NYC9 | 3959 | 4035 | 1 | 4486 | Chain | ID=PRO_0000114632;Note=Dynein heavy chain 9%2C axonemal |
| Q9NYC9 | 3959 | 4035 | 3866 | 4092 | Region | Note=AAA 6;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9NYC9 | 4035 | 4099 | 3961 | 4036 | Alternative sequence | ID=VSP_035285;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9205841;Dbxref=PMID:9205841 |
| Q9NYC9 | 4035 | 4099 | 1 | 4486 | Chain | ID=PRO_0000114632;Note=Dynein heavy chain 9%2C axonemal |
| Q9NYC9 | 4035 | 4099 | 4036 | 4036 | Natural variant | ID=VAR_046324;Note=D->N;Dbxref=dbSNP:rs17612861 |
| Q9NYC9 | 4035 | 4099 | 3866 | 4092 | Region | Note=AAA 6;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9NYC9 | 4163 | 4220 | 1 | 4486 | Chain | ID=PRO_0000114632;Note=Dynein heavy chain 9%2C axonemal |
| 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 |
| Q9NYC9 | 506 | 545 | 1 | 3688 | Alternative sequence | ID=VSP_043443;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NYC9 | 506 | 545 | 1 | 4486 | Chain | ID=PRO_0000114632;Note=Dynein heavy chain 9%2C axonemal |
| Q9NYC9 | 506 | 545 | 504 | 529 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NYC9 | 506 | 545 | 1 | 1831 | Region | Note=Stem;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9NYC9 | 634 | 656 | 1 | 3688 | Alternative sequence | ID=VSP_043443;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NYC9 | 634 | 656 | 1 | 4486 | Chain | ID=PRO_0000114632;Note=Dynein heavy chain 9%2C axonemal |
| Q9NYC9 | 634 | 656 | 639 | 662 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NYC9 | 634 | 656 | 1 | 1831 | Region | Note=Stem;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9NYC9 | 3351 | 3414 | 1 | 3688 | Alternative sequence | ID=VSP_043443;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NYC9 | 3351 | 3414 | 1 | 4486 | Chain | ID=PRO_0000114632;Note=Dynein heavy chain 9%2C axonemal |
| Q9NYC9 | 3657 | 3704 | 1 | 3688 | Alternative sequence | ID=VSP_043443;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NYC9 | 3657 | 3704 | 1 | 4486 | Chain | ID=PRO_0000114632;Note=Dynein heavy chain 9%2C axonemal |
| Q9NYC9 | 3657 | 3704 | 3640 | 3675 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NYC9 | 3657 | 3704 | 3664 | 3664 | Natural variant | ID=VAR_036216;Note=In a breast cancer sample%3B somatic mutation. T->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=dbSNP:rs138874996,PMID:16959974 |
| Q9NYC9 | 3657 | 3704 | 3678 | 3678 | Sequence conflict | Note=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NYC9 | 3959 | 4035 | 3961 | 4036 | Alternative sequence | ID=VSP_035285;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9205841;Dbxref=PMID:9205841 |
| Q9NYC9 | 3959 | 4035 | 1 | 4486 | Chain | ID=PRO_0000114632;Note=Dynein heavy chain 9%2C axonemal |
| Q9NYC9 | 3959 | 4035 | 3866 | 4092 | Region | Note=AAA 6;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9NYC9 | 4035 | 4099 | 3961 | 4036 | Alternative sequence | ID=VSP_035285;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9205841;Dbxref=PMID:9205841 |
| Q9NYC9 | 4035 | 4099 | 1 | 4486 | Chain | ID=PRO_0000114632;Note=Dynein heavy chain 9%2C axonemal |
| Q9NYC9 | 4035 | 4099 | 4036 | 4036 | Natural variant | ID=VAR_046324;Note=D->N;Dbxref=dbSNP:rs17612861 |
| Q9NYC9 | 4035 | 4099 | 3866 | 4092 | Region | Note=AAA 6;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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SNVs in the skipped exons for DNAH9 |
| - 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 |
| STAD | TCGA-CG-5726-01 | exon_skip_149180 | 11774915 | 11775103 | 11775064 | 11775064 | Frame_Shift_Del | C | - | p.L3401fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_149182 | 11833183 | 11833410 | 11833357 | 11833357 | Frame_Shift_Del | C | - | p.P4019fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_149182 | 11833183 | 11833410 | 11833357 | 11833357 | Frame_Shift_Del | C | - | p.P4019fs |
| CESC | TCGA-EA-A3HU-01 | exon_skip_149176 | 11535904 | 11536020 | 11535955 | 11535955 | Nonsense_Mutation | C | T | p.R524* |
| LUAD | TCGA-44-6145-01 | exon_skip_149179 | 11592883 | 11593753 | 11592948 | 11592949 | Nonsense_Mutation | CC | AA | p.S1270* |
| LUAD | TCGA-NJ-A55R-01 | exon_skip_149179 | 11592883 | 11593753 | 11593217 | 11593217 | Nonsense_Mutation | G | T | p.E1360* |
| KIRC | TCGA-CZ-4856-01 | exon_skip_149179 | 11592883 | 11593753 | 11593688 | 11593688 | Nonsense_Mutation | C | T | p.R1517* |
| KIRC | TCGA-CZ-4856-01 | exon_skip_149179 | 11592883 | 11593753 | 11593688 | 11593688 | Nonsense_Mutation | C | T | p.R1517X |
| HNSC | TCGA-CN-4723-01 | exon_skip_149183 | 11835331 | 11835522 | 11835355 | 11835355 | Nonsense_Mutation | G | T | p.E4044* |
| ACC | TCGA-OR-A5KW-01 | exon_skip_149184 | 11840669 | 11840839 | 11840813 | 11840813 | Nonsense_Mutation | G | T | p.G4212X |
| SKCM | TCGA-EE-A29E-06 | exon_skip_149176 | 11535904 | 11536020 | 11535903 | 11535903 | Splice_Site | G | A | . |
| - 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 |
| SN12C_KIDNEY | 11833183 | 11833410 | 11833254 | 11833254 | Frame_Shift_Del | C | - | p.H3983fs |
| HT3_CERVIX | 11835331 | 11835522 | 11835483 | 11835484 | Frame_Shift_Del | TG | - | p.V4087fs |
| NCO2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 11592883 | 11593753 | 11593523 | 11593525 | In_Frame_Del | CTG | - | p.L1462del |
| JHUEM7_ENDOMETRIUM | 11535904 | 11536020 | 11535936 | 11535936 | Missense_Mutation | G | T | p.Q517H |
| SNU81_LARGE_INTESTINE | 11547948 | 11548016 | 11547984 | 11547984 | Missense_Mutation | A | C | p.Q646H |
| SNU1040_LARGE_INTESTINE | 11592883 | 11593753 | 11592918 | 11592918 | Missense_Mutation | C | T | p.A1260V |
| NCIH460_LUNG | 11592883 | 11593753 | 11592968 | 11592968 | Missense_Mutation | G | A | p.E1277K |
| TGBC11TKB_STOMACH | 11592883 | 11593753 | 11592983 | 11592983 | Missense_Mutation | T | C | p.F1282L |
| MZ7MEL_SKIN | 11592883 | 11593753 | 11593107 | 11593107 | Missense_Mutation | C | T | p.P1323L |
| NCIH513_PLEURA | 11592883 | 11593753 | 11593118 | 11593118 | Missense_Mutation | A | G | p.I1327V |
| HT144_SKIN | 11592883 | 11593753 | 11593310 | 11593310 | Missense_Mutation | C | A | p.Q1391K |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 11592883 | 11593753 | 11593344 | 11593344 | Missense_Mutation | A | G | p.D1402G |
| HEC151_ENDOMETRIUM | 11592883 | 11593753 | 11593356 | 11593356 | Missense_Mutation | C | T | p.A1406V |
| KYSE410_OESOPHAGUS | 11592883 | 11593753 | 11593393 | 11593393 | Missense_Mutation | T | A | p.D1418E |
| CP67MEL_SKIN | 11592883 | 11593753 | 11593397 | 11593397 | Missense_Mutation | G | A | p.V1420I |
| NCIH2172_LUNG | 11592883 | 11593753 | 11593416 | 11593416 | Missense_Mutation | A | G | p.K1426R |
| NCIH1876_LUNG | 11592883 | 11593753 | 11593427 | 11593427 | Missense_Mutation | G | C | p.E1430Q |
| SNU119_OVARY | 11592883 | 11593753 | 11593471 | 11593471 | Missense_Mutation | G | T | p.W1444C |
| MFE319_ENDOMETRIUM | 11592883 | 11593753 | 11593523 | 11593523 | Missense_Mutation | C | A | p.L1462M |
| RL952_ENDOMETRIUM | 11592883 | 11593753 | 11593539 | 11593539 | Missense_Mutation | A | G | p.D1467G |
| HT29_LARGE_INTESTINE | 11592883 | 11593753 | 11593547 | 11593547 | Missense_Mutation | G | A | p.E1470K |
| NCIH748_LUNG | 11592883 | 11593753 | 11593622 | 11593622 | Missense_Mutation | G | C | p.V1495L |
| NO11_CENTRAL_NERVOUS_SYSTEM | 11592883 | 11593753 | 11593740 | 11593740 | Missense_Mutation | C | T | p.A1534V |
| SEKI_SKIN | 11774915 | 11775103 | 11774957 | 11774957 | Missense_Mutation | G | A | p.V3366M |
| HEC59_ENDOMETRIUM | 11774915 | 11775103 | 11774985 | 11774985 | Missense_Mutation | C | T | p.T3375M |
| HEC1A_ENDOMETRIUM | 11774915 | 11775103 | 11774985 | 11774985 | Missense_Mutation | C | T | p.T3375M |
| HEC1_ENDOMETRIUM | 11774915 | 11775103 | 11774985 | 11774985 | Missense_Mutation | C | T | p.T3375M |
| SNU1040_LARGE_INTESTINE | 11774915 | 11775103 | 11774985 | 11774985 | Missense_Mutation | C | T | p.T3375M |
| SN12C_KIDNEY | 11774915 | 11775103 | 11775040 | 11775040 | Missense_Mutation | C | A | p.F3393L |
| JHUEM7_ENDOMETRIUM | 11774915 | 11775103 | 11775051 | 11775051 | Missense_Mutation | A | G | p.Y3397C |
| NCIH1339_LUNG | 11774915 | 11775103 | 11775078 | 11775078 | Missense_Mutation | G | T | p.W3406L |
| KP2_PANCREAS | 11774915 | 11775103 | 11775093 | 11775093 | Missense_Mutation | G | T | p.S3411I |
| HT115_LARGE_INTESTINE | 11790142 | 11790282 | 11790165 | 11790165 | Missense_Mutation | A | C | p.E3665D |
| HEC1_ENDOMETRIUM | 11833183 | 11833410 | 11833186 | 11833186 | Missense_Mutation | A | G | p.I3961V |
| NCIH1573_LUNG | 11833183 | 11833410 | 11833207 | 11833207 | Missense_Mutation | C | A | p.L3968I |
| NCIH1568_LUNG | 11833183 | 11833410 | 11833235 | 11833236 | Missense_Mutation | AG | GC | p.E3977G |
| SKMEL24_SKIN | 11833183 | 11833410 | 11833292 | 11833292 | Missense_Mutation | C | T | p.P3996L |
| COGN278_AUTONOMIC_GANGLIA | 11833183 | 11833410 | 11833318 | 11833318 | Missense_Mutation | C | G | p.Q4005E |
| D247MG_CENTRAL_NERVOUS_SYSTEM | 11833183 | 11833410 | 11833319 | 11833319 | Missense_Mutation | A | G | p.Q4005R |
| HS606T_FIBROBLAST | 11833183 | 11833410 | 11833331 | 11833331 | Missense_Mutation | A | C | p.E4009A |
| LS180_LARGE_INTESTINE | 11833183 | 11833410 | 11833339 | 11833339 | Missense_Mutation | A | G | p.I4012V |
| NCIH23_LUNG | 11833183 | 11833410 | 11833393 | 11833393 | Missense_Mutation | C | A | p.L4030M |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 11833183 | 11833410 | 11833393 | 11833393 | Missense_Mutation | C | A | p.L4030M |
| LU65_LUNG | 11835331 | 11835522 | 11835350 | 11835350 | Missense_Mutation | C | T | p.S4042F |
| SNU81_LARGE_INTESTINE | 11835331 | 11835522 | 11835416 | 11835416 | Missense_Mutation | G | T | p.R4064I |
| SW626_OVARY | 11835331 | 11835522 | 11835419 | 11835419 | Missense_Mutation | G | A | p.R4065Q |
| SU8686_PANCREAS | 11835331 | 11835522 | 11835427 | 11835427 | Missense_Mutation | G | A | p.G4068R |
| HCT116_LARGE_INTESTINE | 11835331 | 11835522 | 11835454 | 11835454 | Missense_Mutation | C | T | p.P4077S |
| NCIH1355_LUNG | 11835331 | 11835522 | 11835462 | 11835462 | Missense_Mutation | C | A | p.N4079K |
| MM127_SKIN | 11840669 | 11840839 | 11840675 | 11840675 | Missense_Mutation | G | A | p.D4166N |
| NKL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 11840669 | 11840839 | 11840817 | 11840817 | Missense_Mutation | C | T | p.A4213V |
| DMS53_LUNG | 11592883 | 11593753 | 11592905 | 11592905 | Nonsense_Mutation | C | T | p.Q1256* |
| NCIH2172_LUNG | 11592883 | 11593753 | 11593262 | 11593262 | Nonsense_Mutation | G | T | p.E1375* |
| SARC9371_BONE | 11592883 | 11593753 | 11593296 | 11593296 | Nonsense_Mutation | G | A | p.W1386* |
| HO1N1_UPPER_AERODIGESTIVE_TRACT | 11592883 | 11593753 | 11593439 | 11593439 | Nonsense_Mutation | G | T | p.E1434* |
| LIM1215_LARGE_INTESTINE | 11592883 | 11593753 | 11593742 | 11593742 | Nonsense_Mutation | C | T | p.Q1535* |
| MEWO_SKIN | 11790142 | 11790282 | 11790145 | 11790145 | Nonsense_Mutation | C | T | p.Q3659* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DNAH9 |
| 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 DNAH9 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DNAH9 |
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RelatedDrugs for DNAH9 |
| 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 DNAH9 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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