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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 DNAH1 |
 Gene summary |
| Gene information | Gene symbol | DNAH1 | Gene ID | 25981 |
| Gene name | dynein axonemal heavy chain 1 | |
| Synonyms | CILD37|DNAHC1|HDHC7|HL-11|HL11|HSRF-1|SPGF18|XLHSRF-1 | |
| Cytomap | 3p21.1 | |
| Type of gene | protein-coding | |
| Description | dynein heavy chain 1, axonemalaxonemal beta dynein heavy chain 1ciliary dynein heavy chain 1dynein, axonemal, heavy polypeptide 1heat shock regulated protein 1testicular tissue protein Li 60 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9P2D7 | |
| Context | PubMed: DNAH1 [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 |
| DNAH1 | GO:0036159 | inner dynein arm assembly | 24360805 |
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Exon skipping events across known transcript of Ensembl for DNAH1 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 DNAH1 |
| 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 DNAH1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_374955 | 3 | 52356424:52356791:52357823:52357896:52360155:52360330 | 52357823:52357896 | ENSG00000114841.13 | ENST00000486752.1,ENST00000420323.2,ENST00000497875.1 |
| exon_skip_374956 | 3 | 52360155:52360330:52360750:52360907:52361897:52362030 | 52360750:52360907 | ENSG00000114841.13 | ENST00000486752.1,ENST00000420323.2,ENST00000497875.1 |
| exon_skip_374957 | 3 | 52379510:52379722:52380487:52380786:52381839:52381990 | 52380487:52380786 | ENSG00000114841.13 | ENST00000486752.1,ENST00000420323.2,ENST00000497875.1 |
| exon_skip_374959 | 3 | 52395234:52395368:52395676:52395782:52396403:52396492 | 52395676:52395782 | ENSG00000114841.13 | ENST00000486752.1,ENST00000420323.2 |
| exon_skip_374960 | 3 | 52398848:52399035:52400472:52400564:52400748:52400903 | 52400472:52400564 | ENSG00000114841.13 | ENST00000486752.1,ENST00000420323.2 |
| exon_skip_374962 | 3 | 52409255:52409429:52409970:52410009:52412617:52412796 | 52409970:52410009 | ENSG00000114841.13 | ENST00000486752.1,ENST00000420323.2 |
| exon_skip_374963 | 3 | 52409970:52410009:52412617:52412796:52413920:52414151 | 52412617:52412796 | ENSG00000114841.13 | ENST00000486752.1,ENST00000420323.2 |
| exon_skip_374964 | 3 | 52413920:52414151:52415655:52415852:52416335:52416471 | 52415655:52415852 | ENSG00000114841.13 | ENST00000486752.1,ENST00000420323.2 |
| exon_skip_374967 | 3 | 52422898:52422953:52423476:52423602:52424950:52425070 | 52423476:52423602 | ENSG00000114841.13 | ENST00000490713.1,ENST00000486752.1,ENST00000420323.2,ENST00000488988.1 |
| exon_skip_374968 | 3 | 52425194:52425344:52425458:52425619:52426479:52426572 | 52425458:52425619 | ENSG00000114841.13 | ENST00000490713.1,ENST00000480649.1,ENST00000486752.1,ENST00000420323.2,ENST00000488988.1 |
| exon_skip_374970 | 3 | 52431722:52431893:52432047:52432178:52432865:52433152 | 52432047:52432178 | ENSG00000114841.13 | ENST00000486752.1,ENST00000420323.2,ENST00000488988.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DNAH1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_374955 | 3 | 52356424:52356791:52357823:52357896:52360155:52360330 | 52357823:52357896 | ENSG00000114841.13 | ENST00000486752.1,ENST00000420323.2,ENST00000497875.1 |
| exon_skip_374956 | 3 | 52360155:52360330:52360750:52360907:52361897:52362030 | 52360750:52360907 | ENSG00000114841.13 | ENST00000486752.1,ENST00000420323.2,ENST00000497875.1 |
| exon_skip_374959 | 3 | 52395234:52395368:52395676:52395782:52396403:52396492 | 52395676:52395782 | ENSG00000114841.13 | ENST00000486752.1,ENST00000420323.2 |
| exon_skip_374960 | 3 | 52398848:52399035:52400472:52400564:52400748:52400903 | 52400472:52400564 | ENSG00000114841.13 | ENST00000486752.1,ENST00000420323.2 |
| exon_skip_374962 | 3 | 52409255:52409429:52409970:52410009:52412617:52412796 | 52409970:52410009 | ENSG00000114841.13 | ENST00000486752.1,ENST00000420323.2 |
| exon_skip_374963 | 3 | 52409970:52410009:52412617:52412796:52413920:52414151 | 52412617:52412796 | ENSG00000114841.13 | ENST00000486752.1,ENST00000420323.2 |
| exon_skip_374964 | 3 | 52413920:52414151:52415655:52415852:52416335:52416471 | 52415655:52415852 | ENSG00000114841.13 | ENST00000486752.1,ENST00000420323.2 |
| exon_skip_374967 | 3 | 52422898:52422953:52423476:52423602:52424950:52425070 | 52423476:52423602 | ENSG00000114841.13 | ENST00000486752.1,ENST00000420323.2,ENST00000488988.1,ENST00000490713.1 |
| exon_skip_374968 | 3 | 52425194:52425344:52425458:52425619:52426479:52426572 | 52425458:52425619 | ENSG00000114841.13 | ENST00000486752.1,ENST00000420323.2,ENST00000488988.1,ENST00000490713.1,ENST00000480649.1 |
| exon_skip_374970 | 3 | 52431722:52431893:52432047:52432178:52432865:52433152 | 52432047:52432178 | ENSG00000114841.13 | ENST00000486752.1,ENST00000420323.2,ENST00000488988.1 |
| 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 DNAH1 |
| 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 |
| ENST00000420323 | 52357823 | 52357896 | Frame-shift |
| ENST00000420323 | 52360750 | 52360907 | Frame-shift |
| ENST00000420323 | 52380487 | 52380786 | Frame-shift |
| ENST00000420323 | 52395676 | 52395782 | Frame-shift |
| ENST00000420323 | 52400472 | 52400564 | Frame-shift |
| ENST00000420323 | 52412617 | 52412796 | Frame-shift |
| ENST00000420323 | 52415655 | 52415852 | Frame-shift |
| ENST00000420323 | 52425458 | 52425619 | Frame-shift |
| ENST00000420323 | 52432047 | 52432178 | Frame-shift |
| ENST00000420323 | 52409970 | 52410009 | In-frame |
| ENST00000420323 | 52423476 | 52423602 | 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 |
| ENST00000420323 | 52357823 | 52357896 | Frame-shift |
| ENST00000420323 | 52360750 | 52360907 | Frame-shift |
| ENST00000420323 | 52395676 | 52395782 | Frame-shift |
| ENST00000420323 | 52400472 | 52400564 | Frame-shift |
| ENST00000420323 | 52412617 | 52412796 | Frame-shift |
| ENST00000420323 | 52415655 | 52415852 | Frame-shift |
| ENST00000420323 | 52425458 | 52425619 | Frame-shift |
| ENST00000420323 | 52432047 | 52432178 | Frame-shift |
| ENST00000420323 | 52409970 | 52410009 | In-frame |
| ENST00000420323 | 52423476 | 52423602 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DNAH1 |
| 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 |
| ENST00000420323 | 13121 | 4265 | 52409970 | 52410009 | 7421 | 7459 | 2386 | 2399 |
| ENST00000420323 | 13121 | 4265 | 52423476 | 52423602 | 9757 | 9882 | 3165 | 3207 |
| 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 |
| ENST00000420323 | 13121 | 4265 | 52409970 | 52410009 | 7421 | 7459 | 2386 | 2399 |
| ENST00000420323 | 13121 | 4265 | 52423476 | 52423602 | 9757 | 9882 | 3165 | 3207 |
| 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 DNAH1 |
| - 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. |
DNAH1_LIHC_exon_skip_374970_psi_boxplot.png |
| - 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 |
| LUAD | TCGA-55-6968-01 | exon_skip_374955 | 52357824 | 52357896 | 52357838 | 52357838 | Frame_Shift_Del | C | - | p.G116fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_374956 | 52360751 | 52360907 | 52360850 | 52360850 | Frame_Shift_Del | C | - | p.H227fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_374956 | 52360751 | 52360907 | 52360850 | 52360850 | Frame_Shift_Del | C | - | p.H227fs |
| KIRC | TCGA-BP-4972-01 | exon_skip_374956 | 52360751 | 52360907 | 52360871 | 52360871 | Frame_Shift_Del | C | - | p.G234fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_374957 | 52380488 | 52380786 | 52380590 | 52380590 | Frame_Shift_Del | A | - | p.N587fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_374957 | 52380488 | 52380786 | 52380594 | 52380594 | Frame_Shift_Del | G | - | p.W588fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_374957 | 52380488 | 52380786 | 52380756 | 52380756 | Frame_Shift_Del | G | - | p.W642fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_374962 | 52409971 | 52410009 | 52409986 | 52409986 | Frame_Shift_Del | A | - | p.E2392fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_374963 | 52412618 | 52412796 | 52412620 | 52412620 | Frame_Shift_Del | G | - | p.G2401fs |
| PRAD | TCGA-J9-A52C-01 | exon_skip_374963 | 52412618 | 52412796 | 52412624 | 52412624 | Frame_Shift_Del | C | - | p.A2402fs |
| STAD | TCGA-BR-8368-01 | exon_skip_374963 | 52412618 | 52412796 | 52412624 | 52412624 | Frame_Shift_Del | C | - | p.A2402fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_374967 | 52423477 | 52423602 | 52423572 | 52423572 | Frame_Shift_Del | G | - | p.L3197fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_374968 | 52425459 | 52425619 | 52425494 | 52425494 | Frame_Shift_Del | G | - | p.L3309fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_374968 | 52425459 | 52425619 | 52425494 | 52425494 | Frame_Shift_Del | G | - | p.L3309fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_374970 | 52432048 | 52432178 | 52432067 | 52432067 | Frame_Shift_Del | A | - | p.Q3993fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_374970 | 52432048 | 52432178 | 52432125 | 52432125 | Frame_Shift_Del | C | - | p.Y4012fs |
| GBM | TCGA-12-0616-01 | exon_skip_374962 | 52409971 | 52410009 | 52409985 | 52409986 | Frame_Shift_Ins | - | A | p.E2392fs |
| UCEC | TCGA-D1-A16X-01 | exon_skip_374962 | 52409971 | 52410009 | 52409985 | 52409985 | Nonsense_Mutation | G | T | p.E2392* |
| OV | TCGA-23-1027-01 | exon_skip_374955 | 52357824 | 52357896 | 52357823 | 52357823 | Splice_Site | G | A | p.E112_splice |
| PAAD | TCGA-IB-7651-01 | exon_skip_374955 | 52357824 | 52357896 | 52357823 | 52357823 | Splice_Site | G | A | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-BC-A3KG-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_374970 | |
| Skipped exon start: 52432048 | |
| Skipped exon end: 52432178 | |
| Mutation start: 52432125 | |
| Mutation end: 52432125 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.Y4012fs | |
exon_skip_107008_LIHC_TCGA-BC-A3KG-01.png | |
exon_skip_107009_LIHC_TCGA-BC-A3KG-01.png | |
exon_skip_107010_LIHC_TCGA-BC-A3KG-01.png | |
exon_skip_10760_LIHC_TCGA-BC-A3KG-01.png | |
exon_skip_11532_LIHC_TCGA-BC-A3KG-01.png | |
exon_skip_123519_LIHC_TCGA-BC-A3KG-01.png | |
exon_skip_17069_LIHC_TCGA-BC-A3KG-01.png | |
exon_skip_300924_LIHC_TCGA-BC-A3KG-01.png | |
exon_skip_346623_LIHC_TCGA-BC-A3KG-01.png | |
exon_skip_374970_LIHC_TCGA-BC-A3KG-01.png | |
exon_skip_387350_LIHC_TCGA-BC-A3KG-01.png | |
exon_skip_423555_LIHC_TCGA-BC-A3KG-01.png | |
exon_skip_441299_LIHC_TCGA-BC-A3KG-01.png | |
exon_skip_441300_LIHC_TCGA-BC-A3KG-01.png | |
exon_skip_444819_LIHC_TCGA-BC-A3KG-01.png | |
exon_skip_450818_LIHC_TCGA-BC-A3KG-01.png | |
exon_skip_456987_LIHC_TCGA-BC-A3KG-01.png | |
exon_skip_459274_LIHC_TCGA-BC-A3KG-01.png | |
exon_skip_494352_LIHC_TCGA-BC-A3KG-01.png | |
exon_skip_64409_LIHC_TCGA-BC-A3KG-01.png | |
exon_skip_64412_LIHC_TCGA-BC-A3KG-01.png | |
exon_skip_69788_LIHC_TCGA-BC-A3KG-01.png | |
exon_skip_98384_LIHC_TCGA-BC-A3KG-01.png | |
| - 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 |
| CL34_LARGE_INTESTINE | 52412618 | 52412796 | 52412624 | 52412624 | Frame_Shift_Del | C | - | p.A2402fs |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52412618 | 52412796 | 52412624 | 52412624 | Frame_Shift_Del | C | - | p.A2402fs |
| HT115_LARGE_INTESTINE | 52357824 | 52357896 | 52357843 | 52357843 | Missense_Mutation | G | A | p.R118Q |
| MDAMB361_BREAST | 52360751 | 52360907 | 52360782 | 52360782 | Missense_Mutation | G | C | p.E205Q |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52360751 | 52360907 | 52360804 | 52360804 | Missense_Mutation | G | A | p.G212D |
| CHL1_SKIN | 52360751 | 52360907 | 52360839 | 52360839 | Missense_Mutation | G | A | p.D224N |
| NCIH650_LUNG | 52360751 | 52360907 | 52360870 | 52360870 | Missense_Mutation | G | T | p.G234V |
| EN_ENDOMETRIUM | 52380488 | 52380786 | 52380498 | 52380498 | Missense_Mutation | T | C | p.F556S |
| AN3CA_ENDOMETRIUM | 52380488 | 52380786 | 52380518 | 52380518 | Missense_Mutation | A | G | p.S563G |
| H4_CENTRAL_NERVOUS_SYSTEM | 52380488 | 52380786 | 52380539 | 52380539 | Missense_Mutation | C | T | p.R570C |
| PANC0403_PANCREAS | 52380488 | 52380786 | 52380631 | 52380631 | Missense_Mutation | G | C | p.M600I |
| KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52400473 | 52400564 | 52400482 | 52400482 | Missense_Mutation | C | A | p.T1843K |
| REC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52400473 | 52400564 | 52400486 | 52400486 | Missense_Mutation | G | C | p.K1844N |
| NCIH211_LUNG | 52400473 | 52400564 | 52400530 | 52400530 | Missense_Mutation | T | C | p.M1859T |
| BALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52412618 | 52412796 | 52412621 | 52412621 | Missense_Mutation | G | C | p.G2401A |
| LN18_CENTRAL_NERVOUS_SYSTEM | 52412618 | 52412796 | 52412729 | 52412729 | Missense_Mutation | C | A | p.T2437N |
| HEC59_ENDOMETRIUM | 52412618 | 52412796 | 52412741 | 52412741 | Missense_Mutation | G | T | p.R2441M |
| MFE319_ENDOMETRIUM | 52415656 | 52415852 | 52415731 | 52415731 | Missense_Mutation | A | G | p.M2562V |
| HEC59_ENDOMETRIUM | 52415656 | 52415852 | 52415762 | 52415762 | Missense_Mutation | G | A | p.S2572N |
| SNU1040_LARGE_INTESTINE | 52415656 | 52415852 | 52415816 | 52415816 | Missense_Mutation | G | A | p.S2590N |
| TE6_OESOPHAGUS | 52423477 | 52423602 | 52423549 | 52423549 | Missense_Mutation | G | A | p.E3190K |
| HEC151_ENDOMETRIUM | 52423477 | 52423602 | 52423568 | 52423568 | Missense_Mutation | C | T | p.T3196M |
| HS274T_BREAST | 52423477 | 52423602 | 52423592 | 52423592 | Missense_Mutation | G | A | p.R3204Q |
| HEC59_ENDOMETRIUM | 52425459 | 52425619 | 52425550 | 52425550 | Missense_Mutation | T | C | p.L3328P |
| CAL27_UPPER_AERODIGESTIVE_TRACT | 52425459 | 52425619 | 52425562 | 52425562 | Missense_Mutation | A | T | p.H3332L |
| NCIH69_LUNG | 52425459 | 52425619 | 52425573 | 52425573 | Missense_Mutation | G | A | p.E3336K |
| SW48_LARGE_INTESTINE | 52425459 | 52425619 | 52425594 | 52425594 | Missense_Mutation | C | A | p.L3343I |
| VMRCLCD_LUNG | 52432048 | 52432178 | 52432142 | 52432142 | Missense_Mutation | A | T | p.E4018V |
| HEC59_ENDOMETRIUM | 52432048 | 52432178 | 52432168 | 52432168 | Missense_Mutation | G | A | p.E4027K |
| PANC0203_PANCREAS | 52425459 | 52425619 | 52425460 | 52425460 | Splice_Site | C | T | p.T3298M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DNAH1 |
| 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 DNAH1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DNAH1 |
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RelatedDrugs for DNAH1 |
| 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 DNAH1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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