AutismKB 2.0

Evidence Details for GNPDA1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:GNPDA1 ( GNP1,GNPDA,GNPI,GPI,HLN,KIAA0060 )
Gene Full Name: glucosamine-6-phosphate deaminase 1
Band: 5q31.3
Quick LinksEntrez ID:10007; OMIM: 601798; Uniprot ID:GNPI1_HUMAN; ENSEMBL ID: ENSG00000113552; HGNC ID: 4417
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GNPDA1|10007|nucleotide
ATGAAGCTCATCATCCTGGAGCACTATTCTCAGGCGAGCGAGTGGGCGGCTAAATACATCAGGAACCGCATCATCCAGTTTAACCCAGGGCCAGAGAAGTACTTC
ACCCTGGGGCTCCCCACTGGGAGTACCCCACTTGGCTGCTACAAGAAGCTGATTGAATACTATAAGAATGGGGACCTGTCCTTTAAATATGTGAAGACCTTCAAC
ATGGATGAGTACGTGGGCCTTCCTCGAGACCACCCGGAGAGTTACCACTCCTTCATGTGGAACAACTTCTTCAAGCACATTGACATCCACCCAGAAAACACCCAC
ATTCTGGATGGGAATGCAGTCGACCTACAGGCAGAATGTGATGCCTTTGAAGAGAAGATCAAGGCTGCAGGTGGGATCGAGCTATTTGTTGGAGGCATCGGCCCT
GATGGACACATTGCCTTCAACGAGCCAGGCTCCAGTCTGGTGTCCAGGACCCGTGTGAAGACGCTGGCCATGGATACCATCCTGGCCAATGCTAGGTTCTTCGAT
GGAGAACTCACCAAGGTGCCCACCATGGCCTTGACGGTGGGGGTGGGCACTGTCATGGATGCTAGAGAGGTGATGATCCTTATCACAGGTGCTCACAAGGCATTT
GCTCTGTACAAGGCCATCGAGGAGGGAGTGAACCACATGTGGACCGTGTCTGCCTTCCAGCAGCATCCCCGCACCGTGTTTGTGTGTGACGAGGATGCCACCTTG
GAGCTGAAAGTGAAGACTGTCAAGTATTTCAAAGGTTTAATGCTTGTTCATAACAAGTTGGTGGACCCCTTGTACAGTATCAAAGAGAAAGAAACTGAGAAAAGC
CAATCTTCGAAGAAACCATACAGCGATTAG


Show »

>GNPDA1|10007|protein
MKLIILEHYSQASEWAAKYIRNRIIQFNPGPEKYFTLGLPTGSTPLGCYKKLIEYYKNGDLSFKYVKTFNMDEYVGLPRDHPESYHSFMWNNFFKHIDIHPENTH
ILDGNAVDLQAECDAFEEKIKAAGGIELFVGGIGPDGHIAFNEPGSSLVSRTRVKTLAMDTILANARFFDGELTKVPTMALTVGVGTVMDAREVMILITGAHKAF
ALYKAIEEGVNHMWTVSAFQQHPRTVFVCDEDATLELKVKTVKYFKGLMLVHNKLVDPLYSIKEKETEKSQSSKKPYSD


Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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
Krumm N, 2015 2377 1373 77 Excess of rare, inherited truncating mutations in autism
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.

Simple Query:


  (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