AutismKB 2.0

Evidence Details for NDOR1


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Basic Information Top
Gene Symbol:NDOR1 ( MGC138148,NR1,bA350O14.9 )
Gene Full Name: NADPH dependent diflavin oxidoreductase 1
Band: 9q34.3
Quick LinksEntrez ID:27158; OMIM: 606073; Uniprot ID:NDOR1_HUMAN; ENSEMBL ID: ENSG00000188566; HGNC ID: 29838
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NDOR1|27158|nucleotide
ATGCCGAGCCCGCAGCTTCTGGTGCTCTTCGGCAGCCAGACAGGCACGGCTCAGGATGTGTCGGAGAGACTGGGTCGCGAGGCCCGGCGCCGGCGGCTTGGCTGC
CGGGTGCAGGCCCTGGACTCCTACCCGGTGGTGAATCTGATTAACGAGCCCCTGGTGATATTTGTTTGTGCAACTACAGGCCAAGGAGACCCCCCTGACAACATG
AAGAACTTCTGGAGGTTTATATTCCGGAAGAACCTGCCCTCCACTGCCCTCTGTCAGATGGACTTTGCCGTCCTGGGCCTCGGGGACTCCTCATACGCCAAGTTC
AACTTCGTGGCCAAGAAGCTGCACCGACGGCTACTGCAGCTTGGGGGCAGCGCCCTCCTGCCCGTGTGCCTGGGCGATGACCAGCATGAGCTGGGGCCCGACGCT
GCTGTGGACCCCTGGCTGCGAGACTTGTGGGACAGGGTTCTGGGGCTGTACCCGCCGCCTCCGGGCCTCACTGAGATCCCTCCCGGAGTCCCCCTGCCCTCCAAG
TTCACCCTGCTGTTCCTCCAAGAGGCACCCAGCACGGGCTCTGAGGGGCAGCGGGTAGCTCACCCCGGCTCTCAGGAGCCCCCGTCAGAGTCGAAGCCCTTCCTA
GCACCCATGATCTCCAACCAGAGAGTCACCGGCCCCTCCCACTTCCAGGACGTTCGGCTGATTGAGTTTGACATCTTGGGCTCTGGCATCAGCTTTGCTGCTGGT
GATGTGGTGCTGATTCAGCCCTCCAACTCGGCTGCCCATGTCCAGCGGTTCTGCCAGGTGCTGGGCCTGGACCCTGACCAGCTCTTCATGCTGCAGCCGCGGGAG
CCAGATGTCTCCTCCCCCACGAGGCTGCCCCAGCCCTGCTCCATGCGGCACCTCGTGTCCCACTACCTGGACATCGCCAGCGTGCCTCGCCGCTCCTTCTTCGAA
CTCCTGGCCTGTCTATCCCTCCATGAGCTGGAGCGGGAGAAGCTGCTGGAGTTCAGTTCTGCCCAAGGCCAGGAGGAGCTCTTTGAATACTGCAACCGGCCCCGC
AGGACCATCCTGGAGGTGCTCTGTGACTTCCCGCACACAGCTGCCGCCATCCCTCCCGACTACCTGTTGGACCTCATCCCCGTTATCCGGCCGAGGGCCTTCTCC
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>NDOR1|27158|protein
MPSPQLLVLFGSQTGTAQDVSERLGREARRRRLGCRVQALDSYPVVNLINEPLVIFVCATTGQGDPPDNMKNFWRFIFRKNLPSTALCQMDFAVLGLGDSSYAKF
NFVAKKLHRRLLQLGGSALLPVCLGDDQHELGPDAAVDPWLRDLWDRVLGLYPPPPGLTEIPPGVPLPSKFTLLFLQEAPSTGSEGQRVAHPGSQEPPSESKPFL
APMISNQRVTGPSHFQDVRLIEFDILGSGISFAAGDVVLIQPSNSAAHVQRFCQVLGLDPDQLFMLQPREPDVSSPTRLPQPCSMRHLVSHYLDIASVPRRSFFE
LLACLSLHELEREKLLEFSSAQGQEELFEYCNRPRRTILEVLCDFPHTAAAIPPDYLLDLIPVIRPRAFSIASSLLTHPSRLQILVAVVQFQTRLKEPRRGLCSS
WLASLDPGQGPVRVPLWVRPGSLAFPETPDTPVIMVGPGTGVAPFRAAIQERVAQGQTGNFLFFGCRWRDQDFYWEAEWQELEKRDCLTLIPAFSREQPPALFSA
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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 (2) 1 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (6)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top