Evidence Details for DNAH14
Basic Information Top
| Gene Symbol: | DNAH14 ( C1orf67,DKFZp781B1548,Dnahc14,HL-18,HL18,MGC149665,MGC149666,MGC27277,MGC51214 ) |
|---|---|
| Gene Full Name: | dynein, axonemal, heavy chain 14 |
| Band: | 1q42.12 |
| Quick Links | Entrez ID:127602; OMIM: 603341; Uniprot ID:DYH14_HUMAN; ENSEMBL ID: ENSG00000185842; HGNC ID: 2945 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>DNAH14|127602|nucleotide
ATGGAGACGTTTATACCCATTGATTTGACAACTGAAAATCAAGAGATGGACAAGGAGGAAACCAAGACAAAACCAAGACTTTTAAGATATGAAGAGAAAAAATAT
GAAGATGTGAAACCATTAGAGACTCAACCAGCTGAAATAGCAGAAAAGGAAACATTGGAATATAAAACAGTTAGAACATTCTCTGAATCTTTGAAGTCAGAGAAA
ACAGAAGATTACCTTAGAGAAAGTATAATTCAACAACATATGGTTTCTCCAGAGCCAGCTTCCCTTAAGGAGAAAGGGAAGTCAAGGAGAAAAAAGGATCAAACT
CATGCTTGTCCAAATGTTAGGAAAGCCAGGCCTGTGTCCTATGATAGAACAGAACCAAAAGATGATGATGTGATAAGAAATATTATTAGGCTACGAGAAAAGCTT
GGTTGGCAAACTATATTACCGCAGCACAGTTTGAAATACGGAAGCTCCAAAATTGCAATTCAGAAGATTACTTTAAAGAAACCTTTGGAAGATGATGGAGAATTT
GTTTATTGCCTTCCTCGGAAAAGTCCTAAATCCCTTTACAATCCATATGATCTTCAGGTAGTATCGGCTCATACTGCTAAACATTGCAAAGAATTTTGGGTTATT
ACTGCTTCATTTATCTCAAAGGTTATTAATATAGTTGGTAGTGTAAAGGAAGTAGAACTCATACCTACTTTGGAATGGCTATCAGAAAGAAGACATTACTATTTA
TTACGGCAATTCAAGATATTTTCTGATTTCCGAATGAATAAAGCATTTGTTACCTGGAAATTGAATGTTAAAAGAATTAAGACAGAGAAGAGCAGGTCATTTTTG
TACCACCATCTTTTTTTGGCTGATGACTTGTTTCAAACCTGTTTGGTTTATATAAGAGGACTTTGTGAAGATGCAATTAATCTCAAAAATTATAATGACCATGAA
AATAATCTATCTGCCATATGCCTTGTAAAGCTGGATAGTTCTCGAACATATTCTCTAGATGAATTTTGTGAAGAGCAGTTACAGCAAGCTACCCAGGCATTGAAA
CAACTTGAGGACATCAGGAATAAAGCAATTTCAGAGATGAAAAGTACTTTTCTAAAGGTTGCAGAAAAGAATGAAATCAAAGAGTATTTTGAGTCAAAACTCTCT
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ATGGAGACGTTTATACCCATTGATTTGACAACTGAAAATCAAGAGATGGACAAGGAGGAAACCAAGACAAAACCAAGACTTTTAAGATATGAAGAGAAAAAATAT
GAAGATGTGAAACCATTAGAGACTCAACCAGCTGAAATAGCAGAAAAGGAAACATTGGAATATAAAACAGTTAGAACATTCTCTGAATCTTTGAAGTCAGAGAAA
ACAGAAGATTACCTTAGAGAAAGTATAATTCAACAACATATGGTTTCTCCAGAGCCAGCTTCCCTTAAGGAGAAAGGGAAGTCAAGGAGAAAAAAGGATCAAACT
CATGCTTGTCCAAATGTTAGGAAAGCCAGGCCTGTGTCCTATGATAGAACAGAACCAAAAGATGATGATGTGATAAGAAATATTATTAGGCTACGAGAAAAGCTT
GGTTGGCAAACTATATTACCGCAGCACAGTTTGAAATACGGAAGCTCCAAAATTGCAATTCAGAAGATTACTTTAAAGAAACCTTTGGAAGATGATGGAGAATTT
GTTTATTGCCTTCCTCGGAAAAGTCCTAAATCCCTTTACAATCCATATGATCTTCAGGTAGTATCGGCTCATACTGCTAAACATTGCAAAGAATTTTGGGTTATT
ACTGCTTCATTTATCTCAAAGGTTATTAATATAGTTGGTAGTGTAAAGGAAGTAGAACTCATACCTACTTTGGAATGGCTATCAGAAAGAAGACATTACTATTTA
TTACGGCAATTCAAGATATTTTCTGATTTCCGAATGAATAAAGCATTTGTTACCTGGAAATTGAATGTTAAAAGAATTAAGACAGAGAAGAGCAGGTCATTTTTG
TACCACCATCTTTTTTTGGCTGATGACTTGTTTCAAACCTGTTTGGTTTATATAAGAGGACTTTGTGAAGATGCAATTAATCTCAAAAATTATAATGACCATGAA
AATAATCTATCTGCCATATGCCTTGTAAAGCTGGATAGTTCTCGAACATATTCTCTAGATGAATTTTGTGAAGAGCAGTTACAGCAAGCTACCCAGGCATTGAAA
CAACTTGAGGACATCAGGAATAAAGCAATTTCAGAGATGAAAAGTACTTTTCTAAAGGTTGCAGAAAAGAATGAAATCAAAGAGTATTTTGAGTCAAAACTCTCT
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>DNAH14|127602|protein
METFIPIDLTTENQEMDKEETKTKPRLLRYEEKKYEDVKPLETQPAEIAEKETLEYKTVRTFSESLKSEKTEDYLRESIIQQHMVSPEPASLKEKGKSRRKKDQT
HACPNVRKARPVSYDRTEPKDDDVIRNIIRLREKLGWQTILPQHSLKYGSSKIAIQKITLKKPLEDDGEFVYCLPRKSPKSLYNPYDLQVVSAHTAKHCKEFWVI
TASFISKVINIVGSVKEVELIPTLEWLSERRHYYLLRQFKIFSDFRMNKAFVTWKLNVKRIKTEKSRSFLYHHLFLADDLFQTCLVYIRGLCEDAINLKNYNDHE
NNLSAICLVKLDSSRTYSLDEFCEEQLQQATQALKQLEDIRNKAISEMKSTFLKVAEKNEIKEYFESKLSEDDTTHFKLPKYRRLLETFFKFVMLVDYIFQELIR
QLMNTAVTLLLELFNGSAGMPFSVEKKNENLIR
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METFIPIDLTTENQEMDKEETKTKPRLLRYEEKKYEDVKPLETQPAEIAEKETLEYKTVRTFSESLKSEKTEDYLRESIIQQHMVSPEPASLKEKGKSRRKKDQT
HACPNVRKARPVSYDRTEPKDDDVIRNIIRLREKLGWQTILPQHSLKYGSSKIAIQKITLKKPLEDDGEFVYCLPRKSPKSLYNPYDLQVVSAHTAKHCKEFWVI
TASFISKVINIVGSVKEVELIPTLEWLSERRHYYLLRQFKIFSDFRMNKAFVTWKLNVKRIKTEKSRSFLYHHLFLADDLFQTCLVYIRGLCEDAINLKNYNDHE
NNLSAICLVKLDSSRTYSLDEFCEEQLQQATQALKQLEDIRNKAISEMKSTFLKVAEKNEIKEYFESKLSEDDTTHFKLPKYRRLLETFFKFVMLVDYIFQELIR
QLMNTAVTLLLELFNGSAGMPFSVEKKNENLIR
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (0) | 0 (1) | 1 (1) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Buxbaum, 2004 | USA | microsatellite-based genomic screen | |  | autism | 115 | - | 115 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 1
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Maussion, 2008_1 | AGRE | SNPlex oligoligation assays | 116 | - (-) | | | AD | - - |
- - | |
Case Control Based Association Studies: 0
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | |||||||||||
Large Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.