AutismKB

Evidence Detail for NPHP1


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Basic Information Top
Gene Symbol:NPHP1 ( FLJ97602,JBTS4,NPH1,SLSN1 )
Gene Full Name: nephronophthisis 1 (juvenile)
Band: 2q13
Quick LinksEntrez ID:4867; OMIM: 607100; Uniprot ID:NPHP1_HUMAN; ENSEMBL ID: ENSG00000144061
Sequences Top
>NPHP1|4867|nucleotide
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>NPHP1|4867|protein
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Evidence Statistic 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 Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) Yes 0 (0) 0 (0) 1 (3) 0 (0) 0 (0) 0 (0) 2 (0)
Syndromic Autism Gene Top
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
InheritanceAR
OMIMJoubert syndrome 4 (609583)
DescriptionJoubert syndrome 4 and nephronophthisis (see AHI1 below, 6q23.3)
Reference(s)17409309;
LevelLevel 1: The gene has only been reported in single cases with ASD/autistic features. Additional evidences are needed.
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0001005 2 2q13 loss 1 - paternal Pinto, 2010
AutCNV0001192 2 2q13 gain 1 - paternal Pinto, 2010
AutCNV0001608 2 2q13 gain 1 - paternal Pinto, 2010
AutCNV0001609 2 2q13 gain 1 - paternal Pinto, 2010
AutCNV0001610 2 2q13 gain 1 - maternal Pinto, 2010
AutCNV0001611 2 2q13 gain 1 - paternal Pinto, 2010
AutCNV0001612 2 2q13 loss 1 - maternal Pinto, 2010
AutCNV0001613 2 2q13 loss 1 - paternal Pinto, 2010
AutCNV0002242 2 2q13 loss 1 - maternal Pinto, 2010
AutCNV0002243 2 2q13 loss 1 - na Pinto, 2010
AutCNV0002394 2 2q13 gain 1 - maternal Pinto, 2010
AutCNV0002395 2 2q13 loss 1 - maternal Pinto, 2010
AutCNV0002396 2 2q13 loss 1 - maternal Pinto, 2010
AutCNV0003801 2 2q13 loss 1 - Denovo CNVs; Levy, 2011
AutCNV0004209 2 2q13 loss 1 - CNVs Only Present In Patients; Sanders, 2011
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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