AutismKB 2.0

Evidence Details for NIPSNAP1


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Basic Information Top
Gene Symbol:NIPSNAP1 ( - )
Gene Full Name: nipsnap homolog 1 (C. elegans)
Band: 22q12.2
Quick LinksEntrez ID:8508; OMIM: 603249; Uniprot ID:NIPS1_HUMAN; ENSEMBL ID: ENSG00000184117; HGNC ID: 7827
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NIPSNAP1|8508|nucleotide
ATGGCTCCGCGGCTGTGCAGCATCTCTGTGACGGCGCGTTTCTATTCCAAGGACAATGAAGGCAGCTGGTTCCGCTCCCTCTTTGTTCACAAAGTGGATCCCCGG
AAGGATGCCCACTCCACCCTGCTGTCCAAGAAGGAAACCAGCAACCTCTATAAGATCCAGTTTCACAATGTAAAGCCTGAATACCTGGATGCCTACAACAGCCTC
ACGGAGGCTGTGCTGCCCAAGCTTCACCTGGATGAGGACTACCCATGCTCACTCGTGGGCAACTGGAACACGTGGTATGGGGAGCAGGACCAGGCAGTGCACCTG
TGGCGATTCTCAGGTGGCTACCCAGCCCTCATGGACTGCATGAACAAGCTCAAAAACAATAAGGAGTACCTGGAGTTCCGAAGGGAGCGGAGCCAGATGCTGCTG
TCCAGGAGAAACCAGCTGCTCCTCGAGTTCAGCTTCTGGAATGAGCCACAGCCCAGAATGGGTCCCAACATCTATGAGCTGAGGACATACAAGCTCAAGCCAGGA
ACCATGATCGAGTGGGGGAACAACTGGGCTCGGGCCATCAAGTACCGGCAGGAGAACCAGGAGGCAGTGGGCGGCTTCTTCTCACAGATAGGAGAGCTCTACGTG
GTGCACCATCTCTGGGCCTATAAAGACCTGCAGTCTCGGGAGGAGACTCGAAACGCTGCCTGGAGGAAGAGAGGCTGGGATGAAAATGTCTACTATACAGTCCCC
CTGGTGCGACACATGGAGTCTAGGATCATGATCCCCTTGAAGATCTCGCCTCTGCAGTGA



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>NIPSNAP1|8508|protein
MAPRLCSISVTARFYSKDNEGSWFRSLFVHKVDPRKDAHSTLLSKKETSNLYKIQFHNVKPEYLDAYNSLTEAVLPKLHLDEDYPCSLVGNWNTWYGEQDQAVHL
WRFSGGYPALMDCMNKLKNNKEYLEFRRERSQMLLSRRNQLLLEFSFWNEPQPRMGPNIYELRTYKLKPGTMIEWGNNWARAIKYRQENQEAVGGFFSQIGELYV
VHHLWAYKDLQSREETRNAAWRKRGWDENVYYTVPLVRHMESRIMIPLKISPLQ


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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top