AutismKB 2.0

Evidence Details for NPTX2


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Basic Information Top
Gene Symbol:NPTX2 ( NARP,NP-II,NP2 )
Gene Full Name: neuronal pentraxin II
Band: 7q22.1
Quick LinksEntrez ID:4885; OMIM: 600750; Uniprot ID:NPTX2_HUMAN; ENSEMBL ID: ENSG00000106236; HGNC ID: 7953
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NPTX2|4885|nucleotide
ATGCTGGCGCTGCTGGCCGCCAGCGTGGCGCTCGCCGTGGCCGCTGGGGCCCAGGACAGCCCGGCGCCCGGTAGCCGCTTCGTGTGCACGGCACTGCCCCCAGAG
GCGGTGCACGCCGGCTGCCCGCTGCCCGCGATGCCCATGCAGGGCGGCGCGCAGAGTCCCGAGGAGGAGCTGAGGGCCGCGGTGCTGCAGCTGCGCGAGACCGTC
GTGCAGCAGAAGGAGACGCTGGGCGCGCAGCGCGAGGCCATCCGCGAGCTCACGGGCAAGCTAGCGCGCTGCGAGGGGCTGGCGGGCGGCAAGGCGCGCGGCGCG
GGGGCCACGGGCAAGGACACTATGGGCGACCTGCCGCGGGACCCCGGCCACGTCGTGGAGCAGCTCAGCCGCTCGCTGCAGACCCTCAAGGACCGCCTGGAGAGC
CTCGAGCACCAGCTCAGAGCAAACGTGTCCAATGCTGGGCTGCCCGGCGACTTCCGCGAGGTGCTCCAGCAGCGGCTGGGGGAGCTGGAGAGGCAGCTTCTGCGC
AAGGTGGCAGAGCTGGAGGACGAGAAGTCCCTGCTGCACAATGAGACCTCGGCTCACCGGCAGAAGACCGAGAGCACCCTGAACGCGCTGCTGCAGAGGGTCACC
GAGCTGGAGCGAGGCAATAGCGCCTTTAAGTCACCAGATGCGTTCAAGGTGTCCCTCCCACTCCGCACAAACTACCTATACGGCAAGATCAAGAAGACGCTGCCT
GAGCTGTACGCCTTCACCATCTGCCTGTGGCTGCGGTCCAGCGCCTCACCAGGCATTGGCACCCCCTTCTCCTATGCGGTGCCAGGGCAGGCCAACGAGATCGTG
CTGATCGAGTGGGGCAACAACCCCATCGAGCTGCTCATCAACGACAAGGTTGCGCAGCTGCCCCTGTTTGTCAGTGACGGCAAGTGGCACCACATCTGTGTCACC
TGGACGACACGGGATGGCATGTGGGAGGCATTCCAGGACGGAGAGAAGCTGGGCACTGGGGAGAACCTGGCCCCCTGGCACCCCATCAAGCCCGGGGGCGTGCTG
ATCCTTGGACAAGAGCAGGACACCGTGGGGGGTAGGTTTGATGCCACTCAGGCATTTGTCGGGGAGCTCAGCCAGTTCAACATATGGGACCGCGTCCTTCGCGCA
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>NPTX2|4885|protein
MLALLAASVALAVAAGAQDSPAPGSRFVCTALPPEAVHAGCPLPAMPMQGGAQSPEEELRAAVLQLRETVVQQKETLGAQREAIRELTGKLARCEGLAGGKARGA
GATGKDTMGDLPRDPGHVVEQLSRSLQTLKDRLESLEHQLRANVSNAGLPGDFREVLQQRLGELERQLLRKVAELEDEKSLLHNETSAHRQKTESTLNALLQRVT
ELERGNSAFKSPDAFKVSLPLRTNYLYGKIKKTLPELYAFTICLWLRSSASPGIGTPFSYAVPGQANEIVLIEWGNNPIELLINDKVAQLPLFVSDGKWHHICVT
WTTRDGMWEAFQDGEKLGTGENLAPWHPIKPGGVLILGQEQDTVGGRFDATQAFVGELSQFNIWDRVLRAQEIVNIANCSTNMPGNIIPWVDNNVDVFGGASKWP
VETCEERLLDL
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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) 1 (1) 0 (1) 0 (0) 0 (0) 0 (1) 0 (0) 1 (1) 12 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top