AutismKB


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Evidence Detail for IMMP2L


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Basic Information Top
Gene Symbol:IMMP2L ( IMP2,IMP2-LIKE )
Gene Full Name: IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)
Band: 7q31
Quick LinksEntrez ID:83943; OMIM: 605977; Uniprot ID:IMP2L_HUMAN; ENSEMBL ID: ENSG00000184903
Sequences Top
>IMMP2L|83943|nucleotide
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>IMMP2L|83943|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) No 2 (4) 0 (0) 1 (6) 1 (1) 0 (0) 1 (2) 22 (7)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Family Based Association Studies: 2
Reference Stage #SNPs/ #VNTRs #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Maestrini, 2009_3 Replication 2 (detail) 390 390
(-)
ASD -
-
-
-
Maestrini, 2009_2 Discovery 1 (detail) 127 127
(-)
ASD -
-
-
-
Case Control Based Association Studies: 2
Reference Stage #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Maestrini, 2009_5 Discovery 6 (detail) 127
(20.47%)
ASD -
-
- 188
(21.28%)
-
-
Maestrini, 2009_6 Replication 2 (detail) 294
(19.73%)
ASD -
-
- 180
(20.00%)
-
-
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Petek, 2007_1 human ---AD genetics: mutation screen
  • Subjects: 95 multiplex families
  • Normal Controls: -
  • Methods: mutation screen
  • Evidence Details: no coding mutations were found in either GTS or AD patients.
Casey, 2011_1 human bloodASD Homozygous Haplotye mapping
  • Subjects: 2584 trios
  • Normal Controls: -
  • Methods: Illumina 1M/1Mduo Genechip
  • Evidence Details: Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.49).
Large Scale Expression Studies Top
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000142 7 7q31.1-31.31 loss 1 - Denovo CNVs; Marshall, 2008
AutCNV0000665 7 7q31.1 loss 1 - Overlapping/Recurrent CNVs; Pagnamenta, 2010
AutCNV0000666 7 7q31.1 loss 1 - Overlapping/Recurrent CNVs; Pagnamenta, 2010
AutCNV0000667 7 7q31.1 loss 1 - Overlapping/Recurrent CNVs; Pagnamenta, 2010
AutCNV0000668 7 7q31.1 loss 1 - Overlapping/Recurrent CNVs; Pagnamenta, 2010
AutCNV0000679 7 7q31.1 gain 1 - CNVs Only Present In Patients; Maestrini, 2009
AutCNV0000751 7 7q31.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0001074 7 7q31.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0001075 7 7q31.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0001259 7 7q31.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0001260 7 7q31.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0001261 7 7q31.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0001866 7 7q31.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0001867 7 7q31.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0001868 7 7q31.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0001869 7 7q31.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0002662 7 7q31.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0002663 7 7q31.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0002664 7 7q31.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0002665 7 7q31.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0002666 7 7q31.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0002667 7 7q31.1 loss 1 - CNVs Only Present In Patients; Pinto, 2010
AutCNV0003256 7 7q31.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003610 7 7q31.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0004266 7 7q31.1-q31.31 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004608 7 7q31.1 Loss 1 - CNVs Only Present In Patients; van Daalen, 2011
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000058 7q31.1 7 D7S523 1.02 - - Liu, 2001

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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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