AutismKB 2.0

Evidence Details for NFX1


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Basic Information Top
Gene Symbol:NFX1 ( DKFZp779G2416,MGC20369,NFX2 )
Gene Full Name: nuclear transcription factor, X-box binding 1
Band: 9p12
Quick LinksEntrez ID:4799; OMIM: 603255; Uniprot ID:NFX1_HUMAN; ENSEMBL ID: ENSG00000086102; HGNC ID: 7803
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NFX1|4799|nucleotide
ATGGCGGAGGCGCCTCCTGTCTCAGGTACTTTTAAATTCAATACAGATGCTGCTGAATTCATTCCTCAGGAGAAAAAAAATTCTGGTCTAAATTGTGGGACTCAA
AGGAGACTAGACTCTAATAGGATTGGTAGAAGAAATTACAGTTCACCACCTCCCTGTCACCTTTCCAGGCAGGTCCCTTATGATGAAATCTCTGCTGTTCATCAG
CATAGTTATCATCCGTCAGGAAGCAAACCTAAGAGTCAGCAGACGTCTTTCCAGTCCTCTCCTTGTAATAAATCGCCCAAGAGCCATGGCCTTCAGAATCAACCT
TGGCAGAAATTGAGGAATGAGAAGCACCATATCAGAGTCAAGAAAGCACAGAGTCTTGCTGAGCAGACCTCAGATACAGCTGGATTAGAGAGCTCGACCAGATCA
GAGAGTGGGACAGACCTCAGAGAGCATAGTCCTTCTGAGAGTGAGAAGGAAGTTGTGGGTGCAGATCCCAGGGGAGCAAAACCCAAAAAAGCAACACAGTTTGTA
TACAGCTATGGTAGAGGACCAAAAGTCAAGGGGAAACTCAAATGTGAATGGAGTAACCGAACAACTCCAAAACCGGAGGATGCTGGACCCGAAAGTACCAAACCT
GTGGGGGTTTTCCACCCTGACTCTTCAGAGGCATCCTCTAGAAAAGGAGTATTGGATGGGTATGGAGCCAGACGAAATGAGCAGAGAAGATACCCACAGAAAAGG
CCTCCCTGGGAAGTGGAGGGGGCCAGGCCACGACCAGGCAGAAATCCACCAAAACAGGAGGGCCACCGACATACAAACGCAGGACACAGAAACAACATGGGCCCC
ATTCCAAAGGATGACCTCAATGAAAGACCAGCAAAATCTACCTGTGACAGTGAGAACTTGGCAGTCATCAACAAGTCTTCCAGGAGGGTTGACCAAGAGAAATGC
ACTGTACGGAGGCAGGATCCTCAAGTAGTATCTCCTTTCTCCCGAGGCAAACAGAACCATGTGCTAAAGAATGTGGAAACGCACACAGGTTCTCTAATTGAACAA
CTAACAACAGAAAAATACGAGTGCATGGTGTGCTGTGAATTGGTTCGTGTCACGGCCCCAGTGTGGAGTTGTCAGAGCTGTTACCATGTGTTTCATTTGAACTGC
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>NFX1|4799|protein
MAEAPPVSGTFKFNTDAAEFIPQEKKNSGLNCGTQRRLDSNRIGRRNYSSPPPCHLSRQVPYDEISAVHQHSYHPSGSKPKSQQTSFQSSPCNKSPKSHGLQNQP
WQKLRNEKHHIRVKKAQSLAEQTSDTAGLESSTRSESGTDLREHSPSESEKEVVGADPRGAKPKKATQFVYSYGRGPKVKGKLKCEWSNRTTPKPEDAGPESTKP
VGVFHPDSSEASSRKGVLDGYGARRNEQRRYPQKRPPWEVEGARPRPGRNPPKQEGHRHTNAGHRNNMGPIPKDDLNERPAKSTCDSENLAVINKSSRRVDQEKC
TVRRQDPQVVSPFSRGKQNHVLKNVETHTGSLIEQLTTEKYECMVCCELVRVTAPVWSCQSCYHVFHLNCIKKWARSPASQADGQSGWRCPACQNVSAHVPNTYT
CFCGKVKNPEWSRNEIPHSCGEVCRKKQPGQDCPHSCNLLCHPGPCPPCPAFMTKTCECGRTRHTVRCGQAVSVHCSNPCENILNCGQHQCAELCHGGQCQPCQI
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top