AutismKB 2.0

Evidence Details for NFAT5


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Basic Information Top
Gene Symbol:NFAT5 ( KIAA0827,NF-AT5,NFATL1,NFATZ,OREBP,TONEBP )
Gene Full Name: nuclear factor of activated T-cells 5, tonicity-responsive
Band: 16q22.1
Quick LinksEntrez ID:10725; OMIM: 604708; Uniprot ID:NFAT5_HUMAN; ENSEMBL ID: ENSG00000102908; HGNC ID: 7774
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NFAT5|10725|nucleotide
ATGCCCTCGGACTTCATCTCATTGCTCAGCGCGGACCTAGACCTGGAATCGCCCAAGTCCCTCTACTCGCGAGATTCTCTGAAGTTACACCCATCACAGAATTTT
CATAGAGCTGGACTATTGGAAGAATCTGTCTATGATCTTCTCCCAAAGGAGTTACAGTTACCTCCATCTAGAGAAACATCTGTAGCATCAATGAGTCAGACAAGC
GGTGGTGAGGCAGGCTCGCCTCCTCCAGCTGTTGTTGCTGCTGATGCTTCTTCAGCTCCCTCCTCTTCCTCCATGGGCGGTGCTTGCAGCTCCTTTACCACCTCT
TCCAGCCCTACCATTTATTCTACCTCAGTCACCGACAGCAAGGCTATGCAAGTGGAGAGCTGCTCCTCAGCCGTGGGGGTAAGTAACAGAGGGGTAAGTGAAAAG
CAGTTAACCAGTAACACAGTTCAGCAGCATCCATCAACACCGAAGAGGCACACAGTCTTGTACATCTCACCACCACCTGAGGACTTGCTGGATAACAGTCGGATG
TCCTGCCAGGATGAGGGGTGTGGATTGGAATCTGAGCAGAGCTGCAGTATGTGGATGGAGGATTCCCCCTCCAACTTCAGTAACATGAGCACCAGTTCCTACAAT
GATAACACTGAGGTACCTCGTAAATCACGAAAACGAAATCCAAAGCAGAGGCCGGGGGTCAAACGACGAGATTGTGAAGAATCTAATATGGATATATTTGATGCC
GACAGTGCCAAAGCACCTCACTATGTGCTTTCTCAGCTTACCACGGACAACAAAGGCAACTCAAAAGCGGGAAATGGAACATTGGAAAACCAAAAAGGAACTGGA
GTAAAGAAGAGCCCTATGTTGTGTGGACAATATCCTGTTAAAAGTGAGGGAAAGGAGCTGAAGATAGTTGTACAACCTGAGACACAGCACCGAGCTCGGTACCTG
ACTGAGGGCAGCCGTGGCTCAGTGAAAGATAGAACACAGCAAGGCTTTCCTACAGTAAAGCTGGAAGGCCATAATGAACCTGTAGTGTTGCAAGTGTTTGTGGGC
AACGACTCTGGACGAGTGAAACCACATGGATTTTATCAGGCCTGCAGAGTAACTGGACGAAATACAACTCCTTGCAAAGAAGTGGACATTGAAGGCACTACTGTT
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>NFAT5|10725|protein
MPSDFISLLSADLDLESPKSLYSRDSLKLHPSQNFHRAGLLEESVYDLLPKELQLPPSRETSVASMSQTSGGEAGSPPPAVVAADASSAPSSSSMGGACSSFTTS
SSPTIYSTSVTDSKAMQVESCSSAVGVSNRGVSEKQLTSNTVQQHPSTPKRHTVLYISPPPEDLLDNSRMSCQDEGCGLESEQSCSMWMEDSPSNFSNMSTSSYN
DNTEVPRKSRKRNPKQRPGVKRRDCEESNMDIFDADSAKAPHYVLSQLTTDNKGNSKAGNGTLENQKGTGVKKSPMLCGQYPVKSEGKELKIVVQPETQHRARYL
TEGSRGSVKDRTQQGFPTVKLEGHNEPVVLQVFVGNDSGRVKPHGFYQACRVTGRNTTPCKEVDIEGTTVIEVGLDPSNNMTLAVDCVGILKLRNADVEARIGIA
GSKKKSTRARLVFRVNIMRKDGSTLTLQTPSSPILCTQPAGVPEILKKSLHSCSVKGEEEVFLIGKNFLKGTKVIFQENVSDENSWKSEAEIDMELFHQNHLIVK
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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (2)
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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Linkage Studies Top