AutismKB 2.0

Evidence Details for NPAT


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Basic Information Top
Gene Symbol:NPAT ( E14,p220 )
Gene Full Name: nuclear protein, ataxia-telangiectasia locus
Band: 11q22.3
Quick LinksEntrez ID:4863; OMIM: 601448; Uniprot ID:NPAT_HUMAN; ENSEMBL ID: ENSG00000149308; HGNC ID: 7896
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NPAT|4863|nucleotide
ATGTTGTTACCCTCGGACGTAGCCCGGCTTGTATTGGGTTACTTACAGCAAGAAAACCTCATTTCTACCTGCCAGACTTTTATTTTGGAAAGTTCAGATTTAAAA
GAATATGCAGAACATTGTACAGATGAAGGGTTTATTCCAGCCTGCTTACTGTCCTTATTTGGAAAAAACTTGACAACAATTTTAAATGAGTATGTAGCTATGAAA
ACAAAAGAAACATCAAATAATGTCCCAGCAATAATGTCATCTCTATGGAAGAAATTGGACCATACACTTTCTCAGATCAGGAGCATGCAAAGTTCCCCAAGGTTT
GCTGGCAGTCAGAGAGCCCGAACGAGAACTGGAATTGCAGAAATCAAACGGCAGAGAAAGCTTGCATCTCAAACAGCTCCAGCCAGTGCAGAGTTGCTCACTTTA
CCTTACCTTTCAGGACAGTTTACCACTCCTCCTTCCACAGGTACACAGGTTACTCGACCAAGTGGCCAAATTTCAGATCCATCGAGGTCATATTTTGTAGTGGTC
AACCACTCACAGTCACAAGATACTGTAACCACTGGAGAAGCTTTAAATGTCATTCCTGGTGCTCAGGAAAAGAAAGCACATGCCAGTTTAATGTCTCCCGGTAGA
CGCAAAAGTGAATCTCAGAGAAAAAGTACCACTTTGTCTGGCCCTCATTCAACAATACGGAATTTCCAAGATCCAAACGCTTTTGCAGTAGAAAAACAAATGGTT
ATTGAAAATGCACGAGAAAAAATACTAAGCAACAAATCTCTTCAAGAAAAGCTAGCAGAAAACATAAATAAATTTTTAACTAGTGATAACAATATTGCCCAAGTA
CCTAAGCAAACAGATAACAACCCTACGGAGCCAGAGACTTCAATTGATGAATTCCTAGGACTTCCGAGTGAAATTCACATGTCTGAAGAAGCTATACAGGACATA
TTGGAACAGACAGAATCAGACCCAGCATTTCAGGCACTCTTTGATCTCTTTGACTATGGCAAAACAAAGAATAATAAAAATATATCACAAAGTATTTCCAGTCAA
CCTATGGAATCCAATCCCAGTATAGTCTTAGCAGATGAAACTAATCTAGCAGTTAAAGGTTCTTTTGAAACAGAAGAATCTGATGGTCAGTCTGGTCAGCCCGCT
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>NPAT|4863|protein
MLLPSDVARLVLGYLQQENLISTCQTFILESSDLKEYAEHCTDEGFIPACLLSLFGKNLTTILNEYVAMKTKETSNNVPAIMSSLWKKLDHTLSQIRSMQSSPRF
AGSQRARTRTGIAEIKRQRKLASQTAPASAELLTLPYLSGQFTTPPSTGTQVTRPSGQISDPSRSYFVVVNHSQSQDTVTTGEALNVIPGAQEKKAHASLMSPGR
RKSESQRKSTTLSGPHSTIRNFQDPNAFAVEKQMVIENAREKILSNKSLQEKLAENINKFLTSDNNIAQVPKQTDNNPTEPETSIDEFLGLPSEIHMSEEAIQDI
LEQTESDPAFQALFDLFDYGKTKNNKNISQSISSQPMESNPSIVLADETNLAVKGSFETEESDGQSGQPAFCTSYQNDDPLNALKNSNNHDVLRQEDQENFSQIS
TSIQKKAFKTAVPTEQKCDIDITFESVPNLNDFNQRGNSNAECNPHCAELYTNQMSTETEMAIGIEKNSLSSNVPSESQLQPDQPDIPITSFVSLGCEANNENLI
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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 (0) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top