AutismKB 2.0

Evidence Details for NDUFA6


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Basic Information Top
Gene Symbol:NDUFA6 ( B14,CI-B14,LYRM6,NADHB14 )
Gene Full Name: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa
Band: 22q13.2
Quick LinksEntrez ID:4700; OMIM: 602138; Uniprot ID:NDUA6_HUMAN; ENSEMBL ID: ENSG00000184983; HGNC ID: 7690
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NDUFA6|4700|nucleotide
ATGGGAAAAGACATTCGCCCGCGGTCCGCACGCGCTGCTTGCAAAGGGGTGGGGTTGTGGAGTGGATGCTTTGGCAAGATGGCGGGGAGCGGCGTCCGCCAAGCT
ACTTCTACCGCCAGCACCTTCGTGAAGCCCATTTTCAGTCGGGACATGAACGAGGCCAAGCGGAGGGTGCGCGAGCTCTACCGCGCCTGGTATCGGGAGGTGCCG
AACACTGTGCACCAATTCCAGCTGGACATCACTGTGAAAATGGGACGGGATAAAGTCCGAGAAATGTTTATGAAGAATGCCCATGTCACAGACCCCAGGGTGGTT
GATCTTCTGGTCATTAAGGGAAAGATCGAACTGGAAGAAACAATTAAAGTATGGAAGCAGCGGACACATGTTATGCGGTTCTTCCATGAAACAGAAGCGCCAAGG
CCAAAGGATTTCCTATCCAAGTTCTATGTTGGCCACGATCCATGA






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>NDUFA6|4700|protein
MGKDIRPRSARAACKGVGLWSGCFGKMAGSGVRQATSTASTFVKPIFSRDMNEAKRRVRELYRAWYREVPNTVHQFQLDITVKMGRDKVREMFMKNAHVTDPRVV
DLLVIKGKIELEETIKVWKQRTHVMRFFHETEAPRPKDFLSKFYVGHDP



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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) 1 (3) 0 (0) 0 (0) 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
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top