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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 DNAH5 |
 Gene summary |
| Gene information | Gene symbol | DNAH5 | Gene ID | 1767 |
| Gene name | dynein axonemal heavy chain 5 | |
| Synonyms | CILD3|DNAHC5|HL1|KTGNR|PCD | |
| Cytomap | 5p15.2 | |
| Type of gene | protein-coding | |
| Description | dynein heavy chain 5, axonemalaxonemal beta dynein heavy chain 5ciliary dynein heavy chain 5dynein, axonemal, heavy polypeptide 5 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8TE73 | |
| Context | PubMed: DNAH5 [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 DNAH5 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 DNAH5 |
| 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 DNAH5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_441112 | 5 | 13708231:13708444:13714513:13714729:13716595:13716799 | 13714513:13714729 | ENSG00000039139.9 | ENST00000265104.4 |
| exon_skip_441117 | 5 | 13714513:13714729:13716595:13716799:13717423:13717629 | 13716595:13716799 | ENSG00000039139.9 | ENST00000265104.4 |
| exon_skip_441118 | 5 | 13716595:13716799:13717423:13717629:13718990:13719210 | 13717423:13717629 | ENSG00000039139.9 | ENST00000265104.4 |
| exon_skip_441119 | 5 | 13727615:13727765:13729547:13729669:13735239:13735430 | 13729547:13729669 | ENSG00000039139.9 | ENST00000265104.4 |
| exon_skip_441120 | 5 | 13735239:13735430:13735926:13736041:13737360:13737604 | 13735926:13736041 | ENSG00000039139.9 | ENST00000265104.4 |
| exon_skip_441122 | 5 | 13735926:13736041:13737360:13737604:13751186:13751369 | 13737360:13737604 | ENSG00000039139.9 | ENST00000265104.4 |
| exon_skip_441124 | 5 | 13737360:13737604:13751186:13751369:13752242:13752398 | 13751186:13751369 | ENSG00000039139.9 | ENST00000265104.4 |
| exon_skip_441126 | 5 | 13766084:13766288:13769068:13769245:13769609:13769724 | 13769068:13769245 | ENSG00000039139.9 | ENST00000265104.4 |
| exon_skip_441128 | 5 | 13777315:13777464:13780937:13781068:13786287:13786460 | 13780937:13781068 | ENSG00000039139.9 | ENST00000265104.4 |
| exon_skip_441130 | 5 | 13811755:13811932:13814713:13814955:13817656:13817803 | 13814713:13814955 | ENSG00000039139.9 | ENST00000265104.4 |
| exon_skip_441132 | 5 | 13829618:13829813:13830134:13830322:13830705:13830884 | 13830134:13830322 | ENSG00000039139.9 | ENST00000265104.4 |
| exon_skip_441133 | 5 | 13830134:13830322:13830705:13830884:13839464:13839637 | 13830705:13830884 | ENSG00000039139.9 | ENST00000265104.4 |
| exon_skip_441134 | 5 | 13841800:13842013:13844945:13845102:13850760:13850924 | 13844945:13845102 | ENSG00000039139.9 | ENST00000265104.4 |
| exon_skip_441136 | 5 | 13886072:13886238:13891084:13891230:13894758:13894930 | 13891084:13891230 | ENSG00000039139.9 | ENST00000265104.4 |
| exon_skip_441137 | 5 | 13913851:13914067:13914628:13914751:13916456:13916564 | 13914628:13914751 | ENSG00000039139.9 | ENST00000265104.4,ENST00000508040.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DNAH5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_441112 | 5 | 13708231:13708444:13714513:13714729:13716595:13716799 | 13714513:13714729 | ENSG00000039139.9 | ENST00000265104.4 |
| exon_skip_441117 | 5 | 13714513:13714729:13716595:13716799:13717423:13717629 | 13716595:13716799 | ENSG00000039139.9 | ENST00000265104.4 |
| exon_skip_441118 | 5 | 13716595:13716799:13717423:13717629:13718990:13719210 | 13717423:13717629 | ENSG00000039139.9 | ENST00000265104.4 |
| exon_skip_441119 | 5 | 13727615:13727765:13729547:13729669:13735239:13735430 | 13729547:13729669 | ENSG00000039139.9 | ENST00000265104.4 |
| exon_skip_441122 | 5 | 13735926:13736041:13737360:13737604:13751186:13751369 | 13737360:13737604 | ENSG00000039139.9 | ENST00000265104.4 |
| exon_skip_441124 | 5 | 13737360:13737604:13751186:13751369:13752242:13752398 | 13751186:13751369 | ENSG00000039139.9 | ENST00000265104.4 |
| exon_skip_441126 | 5 | 13766084:13766288:13769068:13769245:13769609:13769724 | 13769068:13769245 | ENSG00000039139.9 | ENST00000265104.4 |
| exon_skip_441128 | 5 | 13777315:13777464:13780937:13781068:13786287:13786460 | 13780937:13781068 | ENSG00000039139.9 | ENST00000265104.4 |
| exon_skip_441130 | 5 | 13811755:13811932:13814713:13814955:13817656:13817803 | 13814713:13814955 | ENSG00000039139.9 | ENST00000265104.4 |
| exon_skip_441132 | 5 | 13829618:13829813:13830134:13830322:13830705:13830884 | 13830134:13830322 | ENSG00000039139.9 | ENST00000265104.4 |
| exon_skip_441133 | 5 | 13830134:13830322:13830705:13830884:13839464:13839637 | 13830705:13830884 | ENSG00000039139.9 | ENST00000265104.4 |
| exon_skip_441134 | 5 | 13841800:13842013:13844945:13845102:13850760:13850924 | 13844945:13845102 | ENSG00000039139.9 | ENST00000265104.4 |
| exon_skip_441136 | 5 | 13886072:13886238:13891084:13891230:13894758:13894930 | 13891084:13891230 | ENSG00000039139.9 | ENST00000265104.4 |
| exon_skip_441137 | 5 | 13913851:13914067:13914628:13914751:13916456:13916564 | 13914628:13914751 | ENSG00000039139.9 | ENST00000265104.4,ENST00000508040.1 |
| 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 DNAH5 |
| 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 |
| ENST00000265104 | 13717423 | 13717629 | Frame-shift |
| ENST00000265104 | 13729547 | 13729669 | Frame-shift |
| ENST00000265104 | 13735926 | 13736041 | Frame-shift |
| ENST00000265104 | 13737360 | 13737604 | Frame-shift |
| ENST00000265104 | 13780937 | 13781068 | Frame-shift |
| ENST00000265104 | 13814713 | 13814955 | Frame-shift |
| ENST00000265104 | 13830134 | 13830322 | Frame-shift |
| ENST00000265104 | 13830705 | 13830884 | Frame-shift |
| ENST00000265104 | 13844945 | 13845102 | Frame-shift |
| ENST00000265104 | 13891084 | 13891230 | Frame-shift |
| ENST00000265104 | 13714513 | 13714729 | In-frame |
| ENST00000265104 | 13716595 | 13716799 | In-frame |
| ENST00000265104 | 13751186 | 13751369 | In-frame |
| ENST00000265104 | 13769068 | 13769245 | In-frame |
| ENST00000265104 | 13914628 | 13914751 | 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 |
| ENST00000265104 | 13717423 | 13717629 | Frame-shift |
| ENST00000265104 | 13729547 | 13729669 | Frame-shift |
| ENST00000265104 | 13737360 | 13737604 | Frame-shift |
| ENST00000265104 | 13780937 | 13781068 | Frame-shift |
| ENST00000265104 | 13814713 | 13814955 | Frame-shift |
| ENST00000265104 | 13830134 | 13830322 | Frame-shift |
| ENST00000265104 | 13830705 | 13830884 | Frame-shift |
| ENST00000265104 | 13844945 | 13845102 | Frame-shift |
| ENST00000265104 | 13891084 | 13891230 | Frame-shift |
| ENST00000265104 | 13714513 | 13714729 | In-frame |
| ENST00000265104 | 13716595 | 13716799 | In-frame |
| ENST00000265104 | 13751186 | 13751369 | In-frame |
| ENST00000265104 | 13769068 | 13769245 | In-frame |
| ENST00000265104 | 13914628 | 13914751 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DNAH5 |
| 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 |
| ENST00000265104 | 15650 | 4624 | 13914628 | 13914751 | 1303 | 1425 | 399 | 440 |
| ENST00000265104 | 15650 | 4624 | 13769068 | 13769245 | 9826 | 10002 | 3240 | 3299 |
| ENST00000265104 | 15650 | 4624 | 13751186 | 13751369 | 11134 | 11316 | 3676 | 3737 |
| ENST00000265104 | 15650 | 4624 | 13716595 | 13716799 | 12811 | 13014 | 4235 | 4303 |
| ENST00000265104 | 15650 | 4624 | 13714513 | 13714729 | 13015 | 13230 | 4303 | 4375 |
| 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 |
| ENST00000265104 | 15650 | 4624 | 13914628 | 13914751 | 1303 | 1425 | 399 | 440 |
| ENST00000265104 | 15650 | 4624 | 13769068 | 13769245 | 9826 | 10002 | 3240 | 3299 |
| ENST00000265104 | 15650 | 4624 | 13751186 | 13751369 | 11134 | 11316 | 3676 | 3737 |
| ENST00000265104 | 15650 | 4624 | 13716595 | 13716799 | 12811 | 13014 | 4235 | 4303 |
| ENST00000265104 | 15650 | 4624 | 13714513 | 13714729 | 13015 | 13230 | 4303 | 4375 |
| 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 |
| Q8TE73 | 399 | 440 | 1 | 4624 | Chain | ID=PRO_0000114630;Note=Dynein heavy chain 5%2C axonemal |
| Q8TE73 | 399 | 440 | 1 | 1941 | Region | Note=Stem;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q8TE73 | 3240 | 3299 | 1 | 4624 | Chain | ID=PRO_0000114630;Note=Dynein heavy chain 5%2C axonemal |
| Q8TE73 | 3240 | 3299 | 3195 | 3302 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TE73 | 3240 | 3299 | 3185 | 3482 | Region | Note=Stalk;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q8TE73 | 3676 | 3737 | 1 | 4624 | Chain | ID=PRO_0000114630;Note=Dynein heavy chain 5%2C axonemal |
| Q8TE73 | 3676 | 3737 | 3732 | 3817 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TE73 | 3676 | 3737 | 3567 | 3797 | Region | Note=AAA 5;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q8TE73 | 4235 | 4303 | 1 | 4624 | Chain | ID=PRO_0000114630;Note=Dynein heavy chain 5%2C axonemal |
| Q8TE73 | 4303 | 4375 | 1 | 4624 | Chain | ID=PRO_0000114630;Note=Dynein heavy chain 5%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 |
| Q8TE73 | 399 | 440 | 1 | 4624 | Chain | ID=PRO_0000114630;Note=Dynein heavy chain 5%2C axonemal |
| Q8TE73 | 399 | 440 | 1 | 1941 | Region | Note=Stem;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q8TE73 | 3240 | 3299 | 1 | 4624 | Chain | ID=PRO_0000114630;Note=Dynein heavy chain 5%2C axonemal |
| Q8TE73 | 3240 | 3299 | 3195 | 3302 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TE73 | 3240 | 3299 | 3185 | 3482 | Region | Note=Stalk;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q8TE73 | 3676 | 3737 | 1 | 4624 | Chain | ID=PRO_0000114630;Note=Dynein heavy chain 5%2C axonemal |
| Q8TE73 | 3676 | 3737 | 3732 | 3817 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8TE73 | 3676 | 3737 | 3567 | 3797 | Region | Note=AAA 5;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q8TE73 | 4235 | 4303 | 1 | 4624 | Chain | ID=PRO_0000114630;Note=Dynein heavy chain 5%2C axonemal |
| Q8TE73 | 4303 | 4375 | 1 | 4624 | Chain | ID=PRO_0000114630;Note=Dynein heavy chain 5%2C axonemal |
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SNVs in the skipped exons for DNAH5 |
| - 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-F1-6874-01 | exon_skip_441112 | 13714514 | 13714729 | 13714533 | 13714533 | Frame_Shift_Del | G | - | p.P4369fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_441117 | 13716596 | 13716799 | 13716655 | 13716655 | Frame_Shift_Del | A | - | p.Y4284fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_441119 | 13729548 | 13729669 | 13729623 | 13729623 | Frame_Shift_Del | T | - | p.K3936fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_441119 | 13729548 | 13729669 | 13729623 | 13729623 | Frame_Shift_Del | T | - | p.K3936fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_441120 | 13735927 | 13736041 | 13736029 | 13736029 | Frame_Shift_Del | C | - | p.G3823fs |
| LUAD | TCGA-MN-A4N1-01 | exon_skip_441124 | 13751187 | 13751369 | 13751221 | 13751222 | Frame_Shift_Del | TG | - | p.Q3726fs |
| STAD | TCGA-R5-A804-01 | exon_skip_441126 | 13769069 | 13769245 | 13769135 | 13769135 | Frame_Shift_Del | T | - | p.A3278fs |
| STAD | TCGA-R5-A804-01 | exon_skip_441126 | 13769069 | 13769245 | 13769135 | 13769135 | Frame_Shift_Del | T | - | p.K3277fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_441130 | 13814714 | 13814955 | 13814754 | 13814754 | Frame_Shift_Del | A | - | p.F2397fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_441133 | 13830706 | 13830884 | 13830808 | 13830808 | Frame_Shift_Del | T | - | p.T1987fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_441133 | 13830706 | 13830884 | 13830813 | 13830813 | Frame_Shift_Del | C | - | p.G1985fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_441133 | 13830706 | 13830884 | 13830834 | 13830834 | Frame_Shift_Del | G | - | p.P1978fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_441133 | 13830706 | 13830884 | 13830834 | 13830834 | Frame_Shift_Del | G | - | p.P1978fs |
| COAD | TCGA-A6-6780-01 | exon_skip_441133 | 13830706 | 13830884 | 13830840 | 13830840 | Frame_Shift_Del | C | - | p.G1976fs |
| COAD | TCGA-A6-6781-01 | exon_skip_441133 | 13830706 | 13830884 | 13830840 | 13830840 | Frame_Shift_Del | C | - | p.G1976fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_441133 | 13830706 | 13830884 | 13830840 | 13830840 | Frame_Shift_Del | C | - | p.G1976fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_441136 | 13891085 | 13891230 | 13891129 | 13891129 | Frame_Shift_Del | G | - | p.Q845fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_441112 | 13714514 | 13714729 | 13714593 | 13714594 | Frame_Shift_Ins | - | C | p.*4349fs |
| LGG | TCGA-DU-6392-01 | exon_skip_441128 | 13780938 | 13781068 | 13781003 | 13781004 | Frame_Shift_Ins | - | T | p.T2962fs |
| STAD | TCGA-CG-4442-01 | exon_skip_441134 | 13844946 | 13845102 | 13845086 | 13845087 | Frame_Shift_Ins | - | T | p.K1710fs |
| STAD | TCGA-CG-4442-01 | exon_skip_441134 | 13844946 | 13845102 | 13845086 | 13845087 | Frame_Shift_Ins | - | T | p.R1711fs |
| STAD | TCGA-CG-4442-01 | exon_skip_441134 | 13844946 | 13845102 | 13845087 | 13845088 | Frame_Shift_Ins | - | T | p.K1710fs |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_441118 | 13717424 | 13717629 | 13717498 | 13717498 | Nonsense_Mutation | C | A | p.E4211* |
| SKCM | TCGA-BF-A5EO-01 | exon_skip_441118 | 13717424 | 13717629 | 13717512 | 13717512 | Nonsense_Mutation | C | T | p.W4206* |
| SKCM | TCGA-BF-A5EO-01 | exon_skip_441118 | 13717424 | 13717629 | 13717512 | 13717512 | Nonsense_Mutation | C | T | p.W4206X |
| SKCM | TCGA-EE-A2MD-06 | exon_skip_441118 | 13717424 | 13717629 | 13717512 | 13717512 | Nonsense_Mutation | C | T | p.W4206* |
| ESCA | TCGA-L5-A4OT-01 | exon_skip_441119 | 13729548 | 13729669 | 13729594 | 13729594 | Nonsense_Mutation | A | T | p.L3946* |
| ESCA | TCGA-L5-A4OT-01 | exon_skip_441119 | 13729548 | 13729669 | 13729594 | 13729594 | Nonsense_Mutation | A | T | p.L3946X |
| SKCM | TCGA-D3-A51R-06 | exon_skip_441119 | 13729548 | 13729669 | 13729620 | 13729620 | Nonsense_Mutation | C | T | p.W3937* |
| SKCM | TCGA-D3-A51R-06 | exon_skip_441119 | 13729548 | 13729669 | 13729620 | 13729620 | Nonsense_Mutation | C | T | p.W3937X |
| SKCM | TCGA-EE-A20C-06 | exon_skip_441119 | 13729548 | 13729669 | 13729620 | 13729620 | Nonsense_Mutation | C | T | p.W3937* |
| SKCM | TCGA-EE-A20C-06 | exon_skip_441119 | 13729548 | 13729669 | 13729620 | 13729620 | Nonsense_Mutation | C | T | p.W3937X |
| HNSC | TCGA-BA-4076-01 | exon_skip_441120 | 13735927 | 13736041 | 13735961 | 13735961 | Nonsense_Mutation | G | A | p.Q3846* |
| THYM | TCGA-ZB-A966-01 | exon_skip_441120 | 13735927 | 13736041 | 13735969 | 13735969 | Nonsense_Mutation | G | T | p.S3843X |
| SKCM | TCGA-ER-A19P-06 | exon_skip_441120 | 13735927 | 13736041 | 13736003 | 13736003 | Nonsense_Mutation | C | A | p.E3832* |
| BLCA | TCGA-C4-A0EZ-01 | exon_skip_441122 | 13737361 | 13737604 | 13737394 | 13737394 | Nonsense_Mutation | G | A | p.Q3808* |
| HNSC | TCGA-UF-A7JA-01 | exon_skip_441124 | 13751187 | 13751369 | 13751222 | 13751222 | Nonsense_Mutation | G | A | p.Q3726* |
| SKCM | TCGA-EE-A29S-06 | exon_skip_441124 | 13751187 | 13751369 | 13751222 | 13751222 | Nonsense_Mutation | G | A | p.Q3726* |
| SKCM | TCGA-EE-A29S-06 | exon_skip_441124 | 13751187 | 13751369 | 13751222 | 13751222 | Nonsense_Mutation | G | A | p.Q3726X |
| SKCM | TCGA-EE-A2MI-06 | exon_skip_441124 | 13751187 | 13751369 | 13751222 | 13751222 | Nonsense_Mutation | G | A | p.Q3726* |
| SKCM | TCGA-EE-A2MI-06 | exon_skip_441124 | 13751187 | 13751369 | 13751222 | 13751222 | Nonsense_Mutation | G | A | p.Q3726X |
| READ | TCGA-F5-6814-01 | exon_skip_441126 | 13769069 | 13769245 | 13769236 | 13769236 | Nonsense_Mutation | C | A | p.E3244X |
| SKCM | TCGA-EB-A41B-01 | exon_skip_441128 | 13780938 | 13781068 | 13781044 | 13781044 | Nonsense_Mutation | G | A | p.Q2949* |
| SKCM | TCGA-EB-A41B-01 | exon_skip_441128 | 13780938 | 13781068 | 13781044 | 13781044 | Nonsense_Mutation | G | A | p.Q2949X |
| KIRP | TCGA-GL-A59R-01 | exon_skip_441130 | 13814714 | 13814955 | 13814812 | 13814812 | Nonsense_Mutation | C | A | p.E2378* |
| LUAD | TCGA-35-5375-01 | exon_skip_441132 | 13830135 | 13830322 | 13830206 | 13830206 | Nonsense_Mutation | T | A | p.K2060* |
| UCEC | TCGA-BS-A0TJ-01 | exon_skip_441133 | 13830706 | 13830884 | 13830727 | 13830727 | Nonsense_Mutation | C | A | p.G2014* |
| LUSC | TCGA-39-5030-01 | exon_skip_441134 | 13844946 | 13845102 | 13845026 | 13845026 | Nonsense_Mutation | G | A | p.Q1731* |
| SKCM | TCGA-GN-A8LK-06 | exon_skip_441137 | 13914629 | 13914751 | 13914686 | 13914686 | Nonsense_Mutation | C | T | p.W421* |
| LUAD | TCGA-64-5774-01 | exon_skip_441118 | 13717424 | 13717629 | 13717423 | 13717424 | Splice_Site | CC | AA | p.K4235_splice |
| HNSC | TCGA-CV-7424-01 | exon_skip_441122 | 13737361 | 13737604 | 13737360 | 13737360 | Splice_Site | C | A | p.V3819_splice |
| STAD | TCGA-BR-8382-01 | exon_skip_441124 | 13751187 | 13751369 | 13751371 | 13751371 | Splice_Site | T | - | p.V3677_splice |
| STAD | TCGA-HU-A4H8-01 | exon_skip_441124 | 13751187 | 13751369 | 13751371 | 13751371 | Splice_Site | T | - | . |
| STAD | TCGA-HU-A4H8-01 | exon_skip_441124 | 13751187 | 13751369 | 13751371 | 13751371 | Splice_Site | T | - | p.V3677_splice |
| SKCM | TCGA-EE-A29M-06 | exon_skip_441128 | 13780938 | 13781068 | 13781069 | 13781069 | Splice_Site | C | T | . |
| LUAD | TCGA-91-6840-01 | exon_skip_441132 | 13830135 | 13830322 | 13830323 | 13830323 | Splice_Site | C | T | p.G2021_splice |
| SKCM | TCGA-DA-A3F5-06 | exon_skip_441133 | 13830706 | 13830884 | 13830871 | 13830886 | Splice_Site | GCGTGATGTAACATCT | - | p.R1961_splice |
| - 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 |
| NUGC3_STOMACH | 13914629 | 13914751 | 13914655 | 13914655 | Frame_Shift_Del | T | - | p.I432fs |
| UPCISCC152_UPPER_AERODIGESTIVE_TRACT | 13714514 | 13714729 | 13714567 | 13714567 | Missense_Mutation | G | A | p.R4358W |
| SCC90_UPPER_AERODIGESTIVE_TRACT | 13714514 | 13714729 | 13714567 | 13714567 | Missense_Mutation | G | A | p.R4358W |
| HCC2998_LARGE_INTESTINE | 13714514 | 13714729 | 13714695 | 13714695 | Missense_Mutation | C | T | p.G4315E |
| LB996RCC_KIDNEY | 13714514 | 13714729 | 13714708 | 13714708 | Missense_Mutation | G | T | p.P4311T |
| ACCMESO1_PLEURA | 13716596 | 13716799 | 13716648 | 13716648 | Missense_Mutation | C | T | p.G4286E |
| IALM_LUNG | 13716596 | 13716799 | 13716648 | 13716648 | Missense_Mutation | C | T | p.G4286E |
| KP4_PANCREAS | 13716596 | 13716799 | 13716648 | 13716648 | Missense_Mutation | C | T | p.G4286E |
| NO11_CENTRAL_NERVOUS_SYSTEM | 13716596 | 13716799 | 13716648 | 13716648 | Missense_Mutation | C | T | p.G4286E |
| SISO_CERVIX | 13716596 | 13716799 | 13716702 | 13716702 | Missense_Mutation | G | A | p.A4268V |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13716596 | 13716799 | 13716702 | 13716702 | Missense_Mutation | G | A | p.A4268V |
| MCCAR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13716596 | 13716799 | 13716742 | 13716742 | Missense_Mutation | C | A | p.V4255F |
| JHH2_LIVER | 13716596 | 13716799 | 13716760 | 13716760 | Missense_Mutation | T | C | p.I4249V |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13717424 | 13717629 | 13717431 | 13717431 | Missense_Mutation | A | G | p.V4233A |
| HT115_LARGE_INTESTINE | 13717424 | 13717629 | 13717483 | 13717483 | Missense_Mutation | C | T | p.D4216N |
| NCIH1651_LUNG | 13717424 | 13717629 | 13717485 | 13717485 | Missense_Mutation | G | A | p.A4215V |
| M14_SKIN | 13717424 | 13717629 | 13717504 | 13717504 | Missense_Mutation | G | A | p.P4209S |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13717424 | 13717629 | 13717507 | 13717507 | Missense_Mutation | T | G | p.I4208L |
| SKES1_BONE | 13717424 | 13717629 | 13717557 | 13717557 | Missense_Mutation | A | G | p.L4191P |
| A2058_SKIN | 13729548 | 13729669 | 13729583 | 13729583 | Missense_Mutation | T | A | p.S3950C |
| MEWO_SKIN | 13729548 | 13729669 | 13729647 | 13729647 | Missense_Mutation | T | G | p.K3928N |
| NY_BONE | 13729548 | 13729669 | 13729655 | 13729655 | Missense_Mutation | C | A | p.D3926Y |
| KYAE1_OESOPHAGUS | 13735927 | 13736041 | 13735931 | 13735931 | Missense_Mutation | C | A | p.A3856S |
| RERFGC1B_STOMACH | 13735927 | 13736041 | 13735963 | 13735963 | Missense_Mutation | C | T | p.R3845H |
| GCT_SOFT_TISSUE | 13735927 | 13736041 | 13735969 | 13735969 | Missense_Mutation | G | A | p.S3843L |
| HCC1833_LUNG | 13735927 | 13736041 | 13735991 | 13735991 | Missense_Mutation | C | A | p.V3836F |
| TOV21G_OVARY | 13735927 | 13736041 | 13736000 | 13736000 | Missense_Mutation | T | G | p.M3833L |
| SNUC5_LARGE_INTESTINE | 13735927 | 13736041 | 13736018 | 13736018 | Missense_Mutation | A | G | p.Y3827H |
| IGROV1_OVARY | 13735927 | 13736041 | 13736026 | 13736026 | Missense_Mutation | C | T | p.S3824N |
| 22RV1_PROSTATE | 13735927 | 13736041 | 13736029 | 13736029 | Missense_Mutation | C | T | p.G3823D |
| LS411N_LARGE_INTESTINE | 13737361 | 13737604 | 13737397 | 13737397 | Missense_Mutation | C | T | p.V3807I |
| SNU175_LARGE_INTESTINE | 13737361 | 13737604 | 13737409 | 13737409 | Missense_Mutation | C | T | p.A3803T |
| LCLC97TM1_LUNG | 13737361 | 13737604 | 13737411 | 13737411 | Missense_Mutation | G | T | p.S3802Y |
| Y79_AUTONOMIC_GANGLIA | 13737361 | 13737604 | 13737415 | 13737415 | Missense_Mutation | T | C | p.I3801V |
| SW684_SOFT_TISSUE | 13737361 | 13737604 | 13737481 | 13737481 | Missense_Mutation | C | T | p.E3779K |
| ECC12_STOMACH | 13737361 | 13737604 | 13737486 | 13737486 | Missense_Mutation | T | C | p.E3777G |
| HEC1B_ENDOMETRIUM | 13737361 | 13737604 | 13737500 | 13737500 | Missense_Mutation | C | A | p.Q3772H |
| RERFLCAD1_LUNG | 13737361 | 13737604 | 13737561 | 13737561 | Missense_Mutation | G | A | p.A3752V |
| ZR7530_BREAST | 13737361 | 13737604 | 13737583 | 13737583 | Missense_Mutation | G | C | p.H3745D |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13751187 | 13751369 | 13751195 | 13751195 | Missense_Mutation | C | T | p.E3735K |
| SNU1040_LARGE_INTESTINE | 13751187 | 13751369 | 13751197 | 13751197 | Missense_Mutation | G | A | p.T3734I |
| CAPAN1_PANCREAS | 13751187 | 13751369 | 13751226 | 13751226 | Missense_Mutation | T | A | p.E3724D |
| MM370_SKIN | 13751187 | 13751369 | 13751351 | 13751351 | Missense_Mutation | C | T | p.E3683K |
| FTC133_THYROID | 13769069 | 13769245 | 13769151 | 13769151 | Missense_Mutation | C | T | p.S3272N |
| GP5D_LARGE_INTESTINE | 13769069 | 13769245 | 13769163 | 13769163 | Missense_Mutation | G | T | p.A3268D |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13769069 | 13769245 | 13769218 | 13769218 | Missense_Mutation | G | T | p.Q3250K |
| TOV21G_OVARY | 13780938 | 13781068 | 13780941 | 13780941 | Missense_Mutation | G | A | p.T2983M |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 13780938 | 13781068 | 13781025 | 13781025 | Missense_Mutation | A | C | p.V2955G |
| LB647SCLC_LUNG | 13780938 | 13781068 | 13781028 | 13781028 | Missense_Mutation | A | G | p.L2954P |
| SNU182_LIVER | 13814714 | 13814955 | 13814726 | 13814726 | Missense_Mutation | A | T | p.S2406R |
| NCIH727_LUNG | 13814714 | 13814955 | 13814758 | 13814759 | Missense_Mutation | CC | GT | p.2395_2396MV>IL |
| LK2_LUNG | 13814714 | 13814955 | 13814760 | 13814760 | Missense_Mutation | A | C | p.M2395R |
| GP2D_LARGE_INTESTINE | 13830135 | 13830322 | 13830248 | 13830248 | Missense_Mutation | C | T | p.A2046T |
| RL952_ENDOMETRIUM | 13830135 | 13830322 | 13830277 | 13830277 | Missense_Mutation | C | T | p.R2036H |
| SNU1040_LARGE_INTESTINE | 13830706 | 13830884 | 13830717 | 13830717 | Missense_Mutation | C | T | p.R2017Q |
| LB647SCLC_LUNG | 13830706 | 13830884 | 13830729 | 13830729 | Missense_Mutation | C | A | p.R2013L |
| NB13_AUTONOMIC_GANGLIA | 13830706 | 13830884 | 13830774 | 13830774 | Missense_Mutation | C | T | p.G1998E |
| AN3CA_ENDOMETRIUM | 13830706 | 13830884 | 13830882 | 13830882 | Missense_Mutation | C | T | p.C1962Y |
| COLO679_SKIN | 13844946 | 13845102 | 13845017 | 13845018 | Missense_Mutation | CC | TT | p.D1734N |
| HCT15_LARGE_INTESTINE | 13844946 | 13845102 | 13845073 | 13845073 | Missense_Mutation | G | T | p.P1715H |
| MCC13_SKIN | 13844946 | 13845102 | 13845077 | 13845077 | Missense_Mutation | A | C | p.F1714V |
| AN3CA_ENDOMETRIUM | 13891085 | 13891230 | 13891101 | 13891101 | Missense_Mutation | A | G | p.F854S |
| SW756_CERVIX | 13891085 | 13891230 | 13891104 | 13891104 | Missense_Mutation | T | C | p.E853G |
| DAOY_CENTRAL_NERVOUS_SYSTEM | 13891085 | 13891230 | 13891146 | 13891146 | Missense_Mutation | G | A | p.P839L |
| CAL12T_LUNG | 13891085 | 13891230 | 13891182 | 13891182 | Missense_Mutation | C | T | p.R827H |
| CAL12T_LUNG | 13914629 | 13914751 | 13914730 | 13914730 | Missense_Mutation | C | A | p.A407S |
| HEC251_ENDOMETRIUM | 13716596 | 13716799 | 13716649 | 13716649 | Nonsense_Mutation | C | A | p.G4286* |
| DMS79_LUNG | 13737361 | 13737604 | 13737598 | 13737598 | Nonsense_Mutation | C | A | p.E3740* |
| HT29_LARGE_INTESTINE | 13751187 | 13751369 | 13751222 | 13751222 | Nonsense_Mutation | G | A | p.Q3726* |
| TE1_OESOPHAGUS | 13751187 | 13751369 | 13751351 | 13751351 | Nonsense_Mutation | C | A | p.E3683* |
| HEC251_ENDOMETRIUM | 13814714 | 13814955 | 13814764 | 13814764 | Nonsense_Mutation | C | A | p.G2394* |
| SNU81_LARGE_INTESTINE | 13814714 | 13814955 | 13814764 | 13814764 | Nonsense_Mutation | C | A | p.G2394* |
| HEC6_ENDOMETRIUM | 13830706 | 13830884 | 13830805 | 13830805 | Nonsense_Mutation | C | A | p.E1988* |
| HCC2998_LARGE_INTESTINE | 13830706 | 13830884 | 13830805 | 13830805 | Nonsense_Mutation | C | A | p.E1988* |
| EW7_BONE | 13844946 | 13845102 | 13844946 | 13844946 | Splice_Site | C | G | p.K1757N |
| NCIH250_LUNG | 13914629 | 13914751 | 13914629 | 13914629 | Splice_Site | C | A | p.Q440H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DNAH5 |
| 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 DNAH5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DNAH5 |
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RelatedDrugs for DNAH5 |
| 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 DNAH5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| DNAH5 | C1837618 | CILIARY DYSKINESIA, PRIMARY, 3 | 3 | CTD_human;UNIPROT |
| DNAH5 | C0004096 | Asthma | 1 | CTD_human |
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