Evidence Details 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; HGNC ID: 7029
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>MET|4233|nucleotide
ATGAAGGCCCCCGCTGTGCTTGCACCTGGCATCCTCGTGCTCCTGTTTACCTTGGTGCAGAGGAGCAATGGGGAGTGTAAAGAGGCACTAGCAAAGTCCGAGATG
AATGTGAATATGAAGTATCAGCTTCCCAACTTCACCGCGGAAACACCCATCCAGAATGTCATTCTACATGAGCATCACATTTTCCTTGGTGCCACTAACTACATT
TATGTTTTAAATGAGGAAGACCTTCAGAAGGTTGCTGAGTACAAGACTGGGCCTGTGCTGGAACACCCAGATTGTTTCCCATGTCAGGACTGCAGCAGCAAAGCC
AATTTATCAGGAGGTGTTTGGAAAGATAACATCAACATGGCTCTAGTTGTCGACACCTACTATGATGATCAACTCATTAGCTGTGGCAGCGTCAACAGAGGGACC
TGCCAGCGACATGTCTTTCCCCACAATCATACTGCTGACATACAGTCGGAGGTTCACTGCATATTCTCCCCACAGATAGAAGAGCCCAGCCAGTGTCCTGACTGT
GTGGTGAGCGCCCTGGGAGCCAAAGTCCTTTCATCTGTAAAGGACCGGTTCATCAACTTCTTTGTAGGCAATACCATAAATTCTTCTTATTTCCCAGATCATCCA
TTGCATTCGATATCAGTGAGAAGGCTAAAGGAAACGAAAGATGGTTTTATGTTTTTGACGGACCAGTCCTACATTGATGTTTTACCTGAGTTCAGAGATTCTTAC
CCCATTAAGTATGTCCATGCCTTTGAAAGCAACAATTTTATTTACTTCTTGACGGTCCAAAGGGAAACTCTAGATGCTCAGACTTTTCACACAAGAATAATCAGG
TTCTGTTCCATAAACTCTGGATTGCATTCCTACATGGAAATGCCTCTGGAGTGTATTCTCACAGAAAAGAGAAAAAAGAGATCCACAAAGAAGGAAGTGTTTAAT
ATACTTCAGGCTGCGTATGTCAGCAAGCCTGGGGCCCAGCTTGCTAGACAAATAGGAGCCAGCCTGAATGATGACATTCTTTTCGGGGTGTTCGCACAAAGCAAG
CCAGATTCTGCCGAACCAATGGATCGATCTGCCATGTGTGCATTCCCTATCAAATATGTCAACGACTTCTTCAACAAGATCGTCAACAAAAACAATGTGAGATGT
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>MET|4233|protein
MKAPAVLAPGILVLLFTLVQRSNGECKEALAKSEMNVNMKYQLPNFTAETPIQNVILHEHHIFLGATNYIYVLNEEDLQKVAEYKTGPVLEHPDCFPCQDCSSKA
NLSGGVWKDNINMALVVDTYYDDQLISCGSVNRGTCQRHVFPHNHTADIQSEVHCIFSPQIEEPSQCPDCVVSALGAKVLSSVKDRFINFFVGNTINSSYFPDHP
LHSISVRRLKETKDGFMFLTDQSYIDVLPEFRDSYPIKYVHAFESNNFIYFLTVQRETLDAQTFHTRIIRFCSINSGLHSYMEMPLECILTEKRKKRSTKKEVFN
ILQAAYVSKPGAQLARQIGASLNDDILFGVFAQSKPDSAEPMDRSAMCAFPIKYVNDFFNKIVNKNNVRCLQHFYGPNHEHCFNRTLLRNSSGCEARRDEYRTEF
TTALQRVDLFMGQFSEVLLTSISTFIKGDLTIANLGTSEGRFMQVVVSRSGPSTPHVNFLLDSHPVSPEVIVEHTLNQNGYTLVITGKKITKIPLNGLGCRHFQS
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Evidence summary 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	CNV	Linkage	Association	Expression	NGS de novo	NGS Mosaic	NGS Other	Low-Scale Gene Studies	Total
Score (No. of Studies)	No	1 (1)	0 (2)	0 (0)	3 (13)	1 (1)	1 (2)	0 (0)	0 (0)	2 (2)	41 (21)

Syndromic Autism Gene Top

Genome-Wide Association Studies (By Ethnic Group) Top

Family Based Association Studies: 0

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

Case Control Based Association Studies: 1

Reference	Stage	Platform	ASD Cases						Normal Controls		Result
Reference	Stage	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
MIXED/OTHERS
Bralten J, 2017_1	-	Human 370CNV Duo Beadchip;Human OmniExpress Beadchip	5066 (54.03%)	-	-	-	- from 18 to 93years	-	5066 (-)	- -

CNV Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family				Individual
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
Marshall, 2008	-	SNP microarray			ASD	427	238	189	-	427	500	927
Sanders, 2011	Simons Simplex Collection	SNP microarray	-	-	ASD	1127	1127	-	-	-	-	-

Linkage Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family	Individual
Total	Simplex	Multiplex	Control	Affected	Control	Total
No Matched Linkage Regions !

Low Scale Association Studies (by Ethnic Group) Top

Family Based Association Studies: 8

Reference	Source	Platform	#Families	Affecteds						Result
Reference	Source	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Campbell, 2006_1	Italy, AGRE	TaqMan SNP Genotyping Assays	743	1231 (-)			ASD	- -	- -
Campbell, 2009_1	AGRE, Italy, USA	TaqMan SNP Genotyping Assays	848	- (-)			ASD	- -	- -
Campbell, 2009_1	AGRE	PCR, sequencing	214	- (-)			ASD	- -	- -
Sosha, 2009_2	Italy	the Sequenom MALDI-TOF iPLEX platform,RFLP assay	82	- (-)			ASD	- -	- -
Campbell, 2009_1	AGRE, USA	Standard TaqMan SNP genotyping assays	629	1228 (-)			ASD	- -	- -
Sosha, 2009_1	IMGSAC	the Sequenom MALDI-TOF iPLEX platform,RFLP assay	335	- (23.26%)			ASD	- -	- -
ASIAN
Thanseem, 2010_1	Japan	TaqMan genotyping platform, ABI 7900HT sequence detection system	126	126 (15.08%)			ASD	10.49±4.75 -	82.06±26.6 -
Zhou, 2011_2	China	ABI PRISM SnaPshot Multiplex Kit	361	361 (14.13%)			ASD, PDD-NOS	4.67±2.19 -	- -

Case Control Based Association Studies: 5

Reference	Source	Platfrom	ASD Cases					Normal Controls		Result
Reference	Source	Platfrom	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
CAUCASIAN
Campbell, 2009_1	AGRE, USA	-			ASD	- -	-	312 (-)	- -
Campbell, 2009_1	AGRE	-			ASD	- -	-	189 (-)	- -
Jackson, 2009_2	Italy	-			PDD	- -	-	126 (56.35%)	- -
ASIAN
Zhou, 2011_1	China	ABI PRISM SnaPshot Multiplex Kit			"ASD, PDD"	- -	-	594 (17.68%)	17.37±5.62 -
MIXED/OTHERS
Jackson, 2009_1	USA	-			AD	- (5-21)	-	369 (27.10%)	- -

Large Scale Expression Studies Top

Microarray Studies: 1

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

NGS de novo Mutation Studies Top

Reference	Case Number	Family Number	de novo Number	Title
De Rubeis S, 2014	2270	-	1702	Synaptic, transcriptional and chromatin genes disrupted in autism
Takata A, 2018	262	262	322	Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Di

NGS Mosaic SNV Studies Top

Reference	Case Number	Family Number	Mosaic Number	Title
No matched NGS Mosaic SNVs!

NGS Other Studies Top

Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Family			Affected	Validation Method
Reference	Source	Platform	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Affected	Validation Method
No matched NGS Other Studies!

Low Scale Gene Studies Top

Reference	Organism	Tissue	ADI-R	ADOS	Diagnosis	Evidence Level	Result
No Evidence.

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.

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

AutismKB 2.0

Evidence Details for MET

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics