Evidence Detail for MMEL1

View Evidences	View Annotations

Basic Information Top

Gene Symbol:	MMEL1 ( MGC119454,MGC119455,MGC119456,MMEL2,NEP2,NEPII,NL1,NL2,SEP )
Gene Full Name:	membrane metallo-endopeptidase-like 1
Band:	1p36
Quick Links	Entrez ID:79258; OMIM: ; Uniprot ID:MMEL1_HUMAN; ENSEMBL ID: ENSG00000142606

Sequences Top

nucleotide Sequence
Protein Sequence

>MMEL1|79258|nucleotide
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)	1 (5)	0 (0)	0 (0)	1 (1)	9 (1)

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

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

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

Other Low Scale Gene Studies Top

Reference	Orangnism	Tissue	ADI-R	ADOS	Diagnosis	Evidence Level	Result
Blundell, 2010_1	mouse	-	-	-	-	animal model
Subjects: - Normal Controls: - Methods: western blot, bebehavioral analyses Evidence Details: NL1 deletion results in a decrease in neurexin levels, NL1 KO mice exhibit minimal deficits in social behavior and increased repetitive grooming behavior

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
AutCNV0000126	1	1p36	loss	1	-	Denovo CNVs;	Jacquemont, 2006
AutCNV0000332	1	1p36	loss	3	-	CNVs Not Present In Control; Denovo CNVs;	Bucan, 2009
AutCNV0000441	1	1p36.32-36.33	Loss	2	-	Overlapping/Recurrent CNVs;	Gregory, 2009
AutCNV0000442	1	1p36.32-36.33	Gain	1	-	Overlapping/Recurrent CNVs;	Gregory, 2009
AutCNV0000443	1	1p36.32-36.33	Loss	2	-	Overlapping/Recurrent CNVs;	Gregory, 2009
AutCNV0001459	1	1p36.32-36.33	gain	1	-	p	Pinto, 2010
AutCNV0003119	1	1p36.32-36.33	loss	1	-	CNVs Only Present In Patients;	Gai, 2011

Linkage Studies Top

Linkage Name	Band	Chr	Marker	LOD	NPL	P_Value	Reference
No Matched Linkage Regions !

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:

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