AutismKB 2.0

Evidence Details for DNAH14


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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 LinksEntrez 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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>DNAH14|127602|protein
METFIPIDLTTENQEMDKEETKTKPRLLRYEEKKYEDVKPLETQPAEIAEKETLEYKTVRTFSESLKSEKTEDYLRESIIQQHMVSPEPASLKEKGKSRRKKDQT
HACPNVRKARPVSYDRTEPKDDDVIRNIIRLREKLGWQTILPQHSLKYGSSKIAIQKITLKKPLEDDGEFVYCLPRKSPKSLYNPYDLQVVSAHTAKHCKEFWVI
TASFISKVINIVGSVKEVELIPTLEWLSERRHYYLLRQFKIFSDFRMNKAFVTWKLNVKRIKTEKSRSFLYHHLFLADDLFQTCLVYIRGLCEDAINLKNYNDHE
NNLSAICLVKLDSSRTYSLDEFCEEQLQQATQALKQLEDIRNKAISEMKSTFLKVAEKNEIKEYFESKLSEDDTTHFKLPKYRRLLETFFKFVMLVDYIFQELIR
QLMNTAVTLLLELFNGSAGMPFSVEKKNENLIR
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Evidence summary Top

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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 Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top