AutismKB 2.0

Evidence Details for NPAS2


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Basic Information Top
Gene Symbol:NPAS2 ( FLJ23138,MGC71151,MOP4,PASD4,bHLHe9 )
Gene Full Name: neuronal PAS domain protein 2
Band: 2q11.2
Quick LinksEntrez ID:4862; OMIM: 603347; Uniprot ID:NPAS2_HUMAN; ENSEMBL ID: ENSG00000170485; HGNC ID: 7895
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NPAS2|4862|nucleotide
ATGGATGAAGATGAGAAAGACAGAGCCAAGAGAGCTTCTCGAAACAAGTCTGAGAAGAAGCGTCGGGACCAGTTCAATGTTCTCATCAAAGAGCTCAGTTCCATG
CTCCCTGGCAACACGCGGAAAATGGACAAAACCACCGTGTTGGAAAAGGTCATCGGATTTTTGCAGAAACACAATGAAGTCTCAGCGCAAACGGAAATCTGTGAC
ATTCAGCAAGACTGGAAGCCTTCATTCCTCAGTAATGAAGAATTCACCCAGCTGATGTTGGAGGCATTAGATGGCTTCATTATCGCAGTGACAACAGACGGCAGC
ATCATCTATGTCTCTGACAGTATCACGCCTCTCCTTGGGCATTTACCGTCGGATGTCATGGATCAGAATTTGTTAAATTTCCTCCCAGAACAAGAACATTCAGAA
GTTTATAAAATCCTTTCTTCCCATATGCTTGTGACGGATTCCCCCTCCCCAGAATACTTAAAATCTGACAGCGATTTAGAGTTTTATTGCCATCTTCTCAGAGGC
AGCTTGAACCCAAAGGAATTTCCAACTTATGAATACATAAAATTTGTAGGAAATTTTCGCTCTTACAACAATGTGCCTAGCCCCTCCTGTAATGGTTTTGACAAC
ACCCTTTCAAGACCTTGCCGGGTGCCACTAGGAAAGGAGGTTTGCTTCATTGCCACCGTTCGTCTGGCAACACCACAATTCTTAAAGGAAATGTGCATAGTTGAC
GAACCTTTAGAGGAATTCACTTCAAGGCATAGCTTGGAATGGAAATTTTTATTTCTGGATCACAGAGCACCTCCAATCATAGGATACCTGCCTTTTGAAGTGCTG
GGAACCTCAGGCTATGACTACTACCACATTGATGACCTGGAGCTCCTGGCCAGGTGTCACCAGCACCTGATGCAGTTTGGCAAAGGGAAGTCGTGTTGCTACCGG
TTTCTGACCAAAGGTCAGCAGTGGATCTGGCTGCAGACTCACTACTACATCACCTACCATCAGTGGAACTCCAAGCCCGAGTTCATCGTGTGCACACACTCGGTG
GTCAGTTACGCAGATGTCCGGGTGGAAAGGAGGCAGGAGCTGGCTCTGGAAGACCCGCCATCCGAGGCCCTCCACTCCTCAGCACTAAAGGACAAGGGCTCAAGC
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>NPAS2|4862|protein
MDEDEKDRAKRASRNKSEKKRRDQFNVLIKELSSMLPGNTRKMDKTTVLEKVIGFLQKHNEVSAQTEICDIQQDWKPSFLSNEEFTQLMLEALDGFIIAVTTDGS
IIYVSDSITPLLGHLPSDVMDQNLLNFLPEQEHSEVYKILSSHMLVTDSPSPEYLKSDSDLEFYCHLLRGSLNPKEFPTYEYIKFVGNFRSYNNVPSPSCNGFDN
TLSRPCRVPLGKEVCFIATVRLATPQFLKEMCIVDEPLEEFTSRHSLEWKFLFLDHRAPPIIGYLPFEVLGTSGYDYYHIDDLELLARCHQHLMQFGKGKSCCYR
FLTKGQQWIWLQTHYYITYHQWNSKPEFIVCTHSVVSYADVRVERRQELALEDPPSEALHSSALKDKGSSLEPRQHFNTLDVGASGLNTSHSPSASSRSSHKSSH
TAMSEPTSTPTKLMAEASTPALPRSATLPQELPVPGLSQAATMPAPLPSPSSCDLTQQLLPQTVLQSTPAPMAQFSAQFSMFQTIKDQLEQRTRILQANIRWQQE
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top