AutismKB 2.0

Evidence Details for NPTXR


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Basic Information Top
Gene Symbol:NPTXR ( NPR )
Gene Full Name: neuronal pentraxin receptor
Band: 22q13.1
Quick LinksEntrez ID:23467; OMIM: 609474; Uniprot ID:NPTXR_HUMAN; ENSEMBL ID: ENSG00000221890; HGNC ID: 7954
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NPTXR|23467|nucleotide
CTGAAGTTCCTGGCCGTGCTGCTGGCCGCGGGCATGCTGGCGTTCCTCGGTGCCGTCATCTGCATCATCGCCAGCGTGCCCCTGGCGGCCAGCCCGGCGCGGGCG
CTGCCCGGCGGCGCCGACAATGCTTCGGTCGCCTCGGGCGCCGCCGCGTCCCCGGGCCCGCAGCGGAGCCTGAGCGCGCTGCACGGCGCGGGCGGTTCAGCCGGG
CCCCCCGCGCTGCCCGGGGCACCCGCGGCCAGCGCGCACCCGCTGCCGCCCGGGCCCCTGTTCAGCCGCTTCCTGTGCACGCCGCTGGCTGCTGCCTGCCCGTCG
GGGGCCCAGCAGGGGGACGCGGCGGGCGCTGCGCCGGGCGAGCGCGAAGAGCTGCTGCTGCTGCAGAGCACGGCCGAGCAGCTGCGCCAGACGGCGCTGCAGCAG
GAGGCGCGCATCCGCGCCGACCAGGACACCATCCGTGAGCTCACCGGCAAGCTGGGCCGCTGCGAGAGCGGCCTGCCGCGCGGCCTCCAGGGCGCCGGGCCCCGC
CGCGACACCATGGCCGACGGGCCCTGGGACTCGCCTGCGCTCATTCTGGAGCTGGAGGACGCCGTGCGCGCCCTGCGGGACCGCATCGACCGCCTGGAGCAGGAG
CTTCCAGCCCGTGTGAACCTCTCAGCTGCCCCAGCCCCAGTCTCTGCTGTGCCCACCGGCCTACACTCCAAGATGGACCAGCTGGAGGGGCAGCTGCTGGCCCAG
GTGCTGGCACTGGAGAAGGAGCGTGTGGCCCTCAGCCACAGCAGCCGCCGGCAGAGGCAGGAAGTGGAAAAGGAGTTGGACGTCCTGCAGGGTCGTGTGGCTGAG
CTGGAGCACGGGTCCTCAGCCTACAGTCCTCCAGATGCCTTCAAGATCAGCATCCCCATCCGTAACAACTACATGTACGCCCGCGTGCGGAAGGCTCTGCCCGAG
CTCTACGCATTCACCGCCTGCATGTGGCTGCGGTCCAGGTCCAGCGGCACCGGCCAGGGCACCCCCTTCTCCTACTCAGTGCCCGGGCAGGCCAACGAGATTGTA
CTGCTAGAGGCGGGCCATGAGCCCATGGAGCTGCTGATCAACGACAAGGTGGCCCAGCTGCCCCTGAGCCTGAAGGACAATGGCTGGCACCACATCTGCATCGCC
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>NPTXR|23467|protein
MKFLAVLLAAGMLAFLGAVICIIASVPLAASPARALPGGADNASVASGAAASPGPQRSLSALHGAGGSAGPPALPGAPAASAHPLPPGPLFSRFLCTPLAAACPS
GAQQGDAAGAAPGEREELLLLQSTAEQLRQTALQQEARIRADQDTIRELTGKLGRCESGLPRGLQGAGPRRDTMADGPWDSPALILELEDAVRALRDRIDRLEQE
LPARVNLSAAPAPVSAVPTGLHSKMDQLEGQLLAQVLALEKERVALSHSSRRQRQEVEKELDVLQGRVAELEHGSSAYSPPDAFKISIPIRNNYMYARVRKALPE
LYAFTACMWLRSRSSGTGQGTPFSYSVPGQANEIVLLEAGHEPMELLINDKVAQLPLSLKDNGWHHICIAWTTRDGLWSAYQDGELQGSGENLAAWHPIKPHGIL
ILGQEQDTLGGRFDATQAFVGDIAQFNLWDHALTPAQVLGIANCTAPLLGNVLPWEDKLVEAFGGATKAAFDVCKGRAKA
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
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
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Michaelson JJ, 2012 - 10 565 Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018