AutismKB

Evidence Detail for NPY1R


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Basic Information Top
Gene Symbol:NPY1R ( NPYR )
Gene Full Name: neuropeptide Y receptor Y1
Band: 4q31.3-q32
Quick LinksEntrez ID:4886; OMIM: 162641; Uniprot ID:NPY1R_HUMAN; ENSEMBL ID: ENSG00000164128
Sequences Top
>NPY1R|4886|nucleotide
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>NPY1R|4886|protein
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Evidence Statistic Top

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Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 1 (1) 9 (1)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Ramanathan, 2004_1 human blood--PDD case report
  • Subjects: 1(4 year male)
  • Normal Controls: -
  • Methods: cytogenetic studies
  • Evidence Details: The karyotype was 46, XY del 4 (q31.3-q33). Here we report the clinical phenotype of the child and the molecular characterization of the deletion using molecular cytogenetic techniques and analysis of polymorphic markers. These studies revealed a 19 megabase deletion spanning 4q32 to 4q34. Analysis of existing polymorphic markers and new markers developed in this study revealed that the deletion arose on a paternally derived chromosome. To date 33 genes of known or inferred function are deleted as a consequence of the deletion. Among these are the AMPA 2 gene that encodes the glutamate receptor GluR2 sub-unit, GLRA3 and GLRB genes that encode glycine receptor subunits and neuropeptide Y receptor genes NPY1R and NPY5R.
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000254 4 4q31.3-33 loss 1 - CNVs Only Present In Patients; Ramanathan, 2004
Linkage Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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