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 Links	Entrez ID:4233; OMIM: 164860; Uniprot ID:MET_HUMAN; ENSEMBL ID: ENSG00000105976

Sequences Top

nucleotide Sequence
Protein Sequence

>MET|4233|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	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

Reference	Population	#SNPs/ #VNTRs	#Families	Affecteds						Result
Reference	Population	#SNPs/ #VNTRs	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Campbell, 2006_1	Italy, AGRE	9 (detail)	743	1231 (-)			ASD	- -	- -
Campbell, 2009_1	AGRE	1 (detail)	214	- (-)			ASD	- -	- -
Sosha, 2009_2	Italy	2 (detail)	82	- (-)			ASD	- -	- -
Campbell, 2009_1	AGRE, USA	1 (detail)	629	1228 (-)			ASD	- -	- -
Sosha, 2009_1	IMGSAC	35 (detail)	335	- (23.26%)			ASD	- -	- -
Campbell, 2009_1	AGRE, Italy, USA	1 (detail)	848	- (-)			ASD	- -	- -
ASIAN
Thanseem, 2010_1	Japan	15 (detail)	126	126 (15.08%)			ASD	10.49±4.75 -	82.06±26.6 -
Zhou, 2011_2	China	2 (detail)	361	361 (14.13%)			ASD, PDD-NOS	4.67±2.19 -	- -

Case Control Based Association Studies: 5

Reference	Population	#SNPs/ #VNTRs	ASD Cases						Normal Controls		Result
Reference	Population	#SNPs/ #VNTRs	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
CAUCASIAN
Jackson, 2009_2	Italy	1 (detail)	51 (-)			PDD	- -	-	126 (56.35%)	- -
Campbell, 2009_1	AGRE	1 (detail)	115 (-)			ASD	- -	-	189 (-)	- -
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

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
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
CNV Name	Chr	Band	Gain/Loss	Case	Control	Evidence Type	Reference
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

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

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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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