AutismKB

Evidence Detail for MMEL1


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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 LinksEntrez ID:79258; OMIM: ; Uniprot ID:MMEL1_HUMAN; ENSEMBL ID: ENSG00000142606
Sequences Top
>MMEL1|79258|nucleotide
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>MMEL1|79258|protein
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Evidence Statistic Top

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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
Genome-Wide Association Studies(By Ethnic Group) Top
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
CNV Studies Top
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000126 1 1p36 loss 1 - Denovo CNVs; Jacquemont, 2006
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
AutCNV0004652 1 1p36.32 Gain 4 0 Overlapping/Recurrent CNVs; CNVs Not Present In Control; Bucan, 2009
Linkage Studies Top

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  (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
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