AutismKB

Evidence Detail for PRODH


View Evidences View Annotations
Basic Information Top
Gene Symbol:PRODH ( FLJ33744,HSPOX2,MGC148078,MGC148079,PIG6,POX,PRODH1,PRODH2,SCZD4,TP53I6 )
Gene Full Name: proline dehydrogenase (oxidase) 1
Band: 22q11.21
Quick LinksEntrez ID:5625; OMIM: 606810; Uniprot ID:PROD_HUMAN; ENSEMBL ID: ENSG00000100033
Sequences Top
>PRODH|5625|nucleotide
Show »

>PRODH|5625|protein
Show »

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) No 0 (0) 0 (0) 2 (9) 1 (1) 0 (0) 1 (1) 12 (2)
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
Nord, 2011_1 human lymphoblasts--ASD RNA expression
  • Subjects: 41 (35 females, 6 males)
  • Normal Controls: 367
  • Methods: qRT-PCR
  • Evidence Details: decreased in probands compared with controls.
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000157 22 22q11.21 loss 1 - Denovo CNVs; Marshall, 2008
AutCNV0000158 22 22q11.21 gain 1 - Denovo CNVs; Marshall, 2008
AutCNV0000188 22 22q11.2 loss 1 - Other; Marshall, 2008
AutCNV0000189 22 22q11.2 gain 2 - Overlapping/Recurrent CNVs; Other; Denovo CNVs; Marshall, 2008
AutCNV0000269 22 22q11 loss 1 - CNVs Only Present In Patients; Roubertie, 2001
AutCNV0000270 22 22q11 loss 1 - CNVs Only Present In Patients; Niklasson, 2002
AutCNV0000392 22 22q11.2 gain 1 - CNVs Only Present In Patients; Ramelli, 2008
AutCNV0000722 22 22q11.21 gain 1 - Overlapping/Recurrent CNVs; Bremer, 2011
AutCNV0000759 22 22q11.21 gain 1 - paternal Pinto, 2010
AutCNV0000760 22 22q11.21 gain 1 - paternal Pinto, 2010
AutCNV0000826 22 22q11.21 gain 1 - DeNovo Pinto, 2010
AutCNV0001368 22 22q11.21 gain 1 - paternal Pinto, 2010
AutCNV0002213 22 22q11.21 gain 1 - paternal Pinto, 2010
AutCNV0003864 22 22q11.21 loss 1 - Denovo CNVs; Levy, 2011
AutCNV0004388 22 22q11.21 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004389 22 22q11.21 gain 1 - Overlapping/Recurrent CNVs; DeNovo Sanders, 2011
AutCNV0004390 22 22q11.21 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004391 22 22q11.21 gain 1 - Overlapping/Recurrent CNVs; paternal Sanders, 2011
AutCNV0004392 22 22q11.21-q11.22 gain 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004501 22 22q11.21 loss - - CNVs Only Present In Patients; Nord, 2011
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000028 22q11.21 22 D22S264 1.3 - - Bailey, 1998

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.

Quick Search:


  (e.g. NLGN4X)

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
  • Click to Download Data

Registered with NIF