Evidence Details for MTMR7

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Basic Information Top

Gene Symbol:	MTMR7 ( DKFZp781E194,MGC163449,MGC163451 )
Gene Full Name:	myotubularin related protein 7
Band:	8p22
Quick Links	Entrez ID:9108; OMIM: 603562; Uniprot ID:MTMR7_HUMAN; ENSEMBL ID: ENSG00000003987; HGNC ID: 7454
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>MTMR7|9108|nucleotide
ATGGAGCACATCCGTACGCCCAAGGTTGAAAATGTCCGCTTGGTAGATCGAGTGTCTCCTAAAAAAGCAGCTCTAGGTACTTTGTATTTGACGGCTACCCATGTC
ATATTCGTGGAAAATTCACCTGACCCAAGAAAAGAAACATGGATTCTTCACAGTCAGATTTCCACCATTGAGAAACAGGCAACAACCGCTACCGGATGCCCTCTG
CTGATTCGCTGCAAGAACTTTCAGATAATACAGCTCATCATACCTCAGGAAAGAGATTGCCACGACGTGTACATCTCCCTGATACGCCTTGCAAGGCCAGTGAAA
TATGAGGAGTTATACTGCTTTTCATTCAACCCCATGCTGGATAAAGAAGAAAGAGAGCAAGGCTGGGTGCTGATCGATCTTAGTGAAGAATACACGCGGATGGGC
CTCCCTAATCATTACTGGCAGCTCAGCGATGTGAATAGAGACTACAGAGTCTGTGACTCTTATCCTACTGAACTGTACGTTCCCAAATCGGCCACGGCACACATC
ATAGTGGGGAGTTCCAAATTCCGGAGTAGACGGCGATTTCCTGTCCTTTCTTACTATTATAAAGATAACCACGCCTCCATCTGCCGGAGCAGCCAGCCCCTGTCC
GGCTTCAGTGCCCGGTGCCTAGAGGACGAGCAGATGCTCCAGGCCATTAGGAAAGCCAATCCAGGAAGTGACTTCGTTTATGTCGTTGACACCCGGCCTAAACTT
AATGCAATGGCAAATCGTGCTGCAGGGAAAGGCTATGAGAATGAAGACAATTATTCCAATATCAAGTTTCAGTTTATCGGGATAGAGAACATCCATGTCATGAGG
AACAGTCTGCAGAAAATGCTGGAAGTGTGTGAACTTAAATCTCCCTCCATGAGTGATTTCCTGTGGGGTCTGGAGAACTCTGGCTGGTTAAGGCACATTAAAGCC
ATAATGGATGCAGGAATCTTCATTGCAAAGGCAGTGTCAGAGGAAGGGGCAAGTGTGCTTGTTCACTGTTCTGATGGCTGGGACAGGACCGCTCAGGTGTGCTCG
GTGGCAAGCCTGCTGCTGGACCCTCACTACCGGACTCTGAAGGGCTTCATGGTATTAATTGAAAAGGACTGGATTTCCTTTGGTCATAAGTTTAATCACCGATAT
GGCAATCTAGATGGTGACCCAAAAGAAATCTCTCCAGTTATTGACCAGTTCATTGAGTGTGTTTGGCAGTTAATGGAACAATTTCCCTGTGCCTTTGAGTTCAAT
GAGAGGTTTTTGATTCACATTCAACATCACATTTATTCCTGCCAGTTTGGAAACTTCCTATGTAACAGCCAAAAGGAGAGACGAGAACTCAAGATTCAAGAAAGA
ACATACTCATTATGGGCTCACCTGTGGAAGAATCGGGCCGACTACCTGAATCCTCTGTTTAGAGCTGATCACAGCCAGACTCAGGGAACCCTTCATCTCCCTACA
ACACCATGTAACTTCATGTACAAGTTTTGGAGTGGAATGTATAACCGCTTTGAAAAGGGGATGCAGCCCCGACAGTCAGTTACAGATTACCTAATGGCAGTGAAG
GAAGAAACTCAGCAGCTAGAGGAAGAACTAGAGGCCCTGGAAGAAAGGCTGGAAAAAATTCAAAAGGTCCAGTTAAATTGCACTAAGGTGAAGAGTAAGCAAAGT
GAGCCCAGCAAGCACTCAGGGTTTTCTACCTCAGACAACAGCATAGCCAACACTCCCCAGGATTACAGTGGGAATATGAAATCATTTCCATCCCGGAGCCCTTCA
CAAGGCGATGAAGATTCTGCTCTGATTCTAACCCAAGACAATCTGAAAAGTTCAGATCCAGATCTGTCAGCCAACAGTGACCAAGAGTCCGGGGTGGAGGATTTG
AGCTGTCGGTCTCCAAGTGGTGGTGAGCATGCACCGAGTGAAGATAGTGGCAAGGACCGGGATTCTGATGAAGCCGTGTTTCTCACTGCCTGA
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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	0 (1)	1 (3)	1 (1)	0 (0)	0 (0)	0 (0)	0 (0)	0 (0)	0 (0)	4 (5)

Syndromic Autism Gene Top

Genome-Wide Association Studies (By Ethnic Group) Top

Family Based Association Studies: 1

Reference	Stage	Platform	#Families	Affecteds						Result
Reference	Stage	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Hussman, 2011_1	Discovery	Illumina Infinium Human 1 M beadship	597	- (-)			ASD	- -	- -

Case Control Based Association Studies: 0

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
No Evidence.

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
Papanikolaou, 2006	-	FISH			autism	-	-	-	-	1	-	1
Ozgen, 2009	-	aCGH, SNP microarray			ASD	55	-	-	-	-	-	-
Berkel, 2010	Canada	SNP microarray			ASD	-	-	-	-	396	5023	5419

Linkage Studies Top

AutismKB 2.0

Evidence Details for MTMR7