AutismKB

Evidence Detail for MET


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Basic Information Top
Gene Symbol:MET ( AUTS9,HGFR,RCCP2,c-Met )
Gene Full Name: met proto-oncogene (hepatocyte growth factor receptor)
Band: 7q31
Quick LinksEntrez ID:4233; OMIM: 164860; Uniprot ID:MET_HUMAN; ENSEMBL ID: ENSG00000105976
Sequences Top
>MET|4233|nucleotide
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>MET|4233|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 0 (0) 1 (1) 1 (2) 0 (0) 3 (13) 3 (3) 33 (22)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 8
Case Control Based Association Studies: 5
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Campbell, 2009_1 AGRE 1 (detail) 115
(-)
ASD -
-
- 189
(-)
-
-
Jackson, 2009_2 Italy 1 (detail) 51
(-)
PDD -
-
- 126
(56.35%)
-
-
Campbell, 2009_1 AGRE, USA 1 (detail) 1228
(-)
ASD -
-
- 312
(-)
-
-
ASIAN
Zhou, 2011_1 China 2 (detail) 401
(13.97%)
"ASD, PDD" -
-
- 594
(17.68%)
17.37±5.62
-
MIXED/OTHERS
Jackson, 2009_1 USA 1 (detail) 174
(-)
AD -
(5-21)
- 369
(27.10%)
-
-
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Campbell, 2006_1 mouse neural cell lines N2A and SN56 and the HEK cell line--- RNA regulation
  • Subjects: -
  • Normal Controls: -
  • Methods: transcription assays
  • Evidence Details: C allele of rs1858830 results in a 2-fold descrease in MET promoter activity
Campbell, 2006_2 human Hela nuclear extracts--- RNA regulation: transcription factor
  • Subjects: -
  • Normal Controls: -
  • Methods: electrophoretic mobility shift and antibody suppershift assays
  • Evidence Details: C allele decreases the binding effects of specific transcription factor complexes
Campbell, 2007_1 human brain(postmortem cerebral cortex gray matter samples (BA 41/42, 52, or 22))--ASD protein expression
  • Subjects: 8
  • Normal Controls: 8
  • Methods: Western blotting
  • Evidence Details: MET protein levels were significantly decreased in ASD cases compared with control subjects.
Campbell, 2007_1 human brain(postmortem cerebral cortex gray matter samples (BA 41/42, 52, or 22))--ASD RNA expression
  • Subjects: 8
  • Normal Controls: 8
  • Methods: microarray and quantitative reverse transcriptase polymerase chain reaction
  • Evidence Details: This was accompanied in ASD brains by increased messenger RNA expression for proteins involved in regulating MET signaling activity.
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Population Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.962646 Down 54.9681
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1715175
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
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
Case Control
AutCNV0000142 7 7q31.1-31.31 loss 1 - Denovo CNVs; Marshall, 2008
AutCNV0000143 7 7q31.1-32.2 loss 1 - Denovo CNVs; Marshall, 2008
AutCNV0004266 7 7q31.1-q31.31 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004269 7 7q31.1-q32.1 loss 1 - CNVs Only Present In Patients; Sanders, 2011
Linkage Studies Top

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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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