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 Links	Entrez ID:83943; OMIM: 605977; Uniprot ID:IMP2L_HUMAN; ENSEMBL ID: ENSG00000184903

Sequences Top

nucleotide Sequence
Protein Sequence

>IMMP2L|83943|nucleotide
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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

Reference	Population	#SNPs/ #VNTRs	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

Reference	Population	#SNPs/ #VNTRs	ASD Cases	Normal Controls	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
No Evidence.

Genome-Wide Association Studies(By Ethnic Group) Top

Family Based Association Studies: 2

Reference	Stage	#SNPs/ #VNTRs	#Families	Affecteds						Result
Reference	Stage	#SNPs/ #VNTRs	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
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
Reference	Stage	#SNPs/ #VNTRs	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
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
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	blood			ASD	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

Reference	Population	Tissue	#Subjects (% Women)	ADI-R	ADOS	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
No Evidence.

Reference	Population	Tissue	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Normal Controls(% Women)
No Evidence.

CNV Studies Top

CNV Name	Chr	Band	Gain/Loss	Number of CNVs		Evidence Type	Reference
CNV Name	Chr	Band	Gain/Loss	Case	Control	Evidence Type	Reference
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	-	paternal	Pinto, 2010
AutCNV0001074	7	7q31.1	loss	1	-	paternal	Pinto, 2010
AutCNV0001075	7	7q31.1	loss	1	-	paternal	Pinto, 2010
AutCNV0001259	7	7q31.1	loss	1	-	maternal	Pinto, 2010
AutCNV0001260	7	7q31.1	loss	1	-	maternal	Pinto, 2010
AutCNV0001261	7	7q31.1	loss	1	-	maternal	Pinto, 2010
AutCNV0001866	7	7q31.1	loss	1	-	paternal	Pinto, 2010
AutCNV0001867	7	7q31.1	loss	1	-	maternal	Pinto, 2010
AutCNV0001868	7	7q31.1	loss	1	-	paternal	Pinto, 2010
AutCNV0001869	7	7q31.1	loss	1	-	paternal	Pinto, 2010
AutCNV0002662	7	7q31.1	loss	1	-	maternal	Pinto, 2010
AutCNV0002663	7	7q31.1	loss	1	-	maternal	Pinto, 2010
AutCNV0002664	7	7q31.1	loss	1	-	maternal	Pinto, 2010
AutCNV0002665	7	7q31.1	gain	1	-	maternal	Pinto, 2010
AutCNV0002666	7	7q31.1	loss	1	-	maternal	Pinto, 2010
AutCNV0002667	7	7q31.1	loss	1	-	maternal	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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