Evidence Details for MACROD2

View Evidences	View Variants	View Annotations

Basic Information Top

Gene Symbol:	MACROD2 ( C20orf133 )
Gene Full Name:	MACRO domain containing 2
Band:	20p12.1
Quick Links	Entrez ID:140733; OMIM: 611567; Uniprot ID:MACD2_HUMAN; ENSEMBL ID: ENSG00000172264; HGNC ID: 16126
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>MACROD2|140733|nucleotide
ATGAATGAGTTTTTCTCCGTAGACGATAATAATGAAGAAGAAGAGGATGTTGAAATGAAAGAAGATTCAGATGAGAACGGTCCAGAGGAGAAGCAAAGTGTGGAA
GAAATGGAAGAGCAGAGCCAAGATGCAGATGGTGTCAACACTGTCACTGTGCCCGGCCCTGCTTCAGAAGAGGCAGTTGAAGACTGTAAAGATGAAGATTTTGCA
AAGGATGAAAATATTACAAAAGGCGGTGAAGTGACAGATCATTCTGTGCGTGACCAAGATCATCCCGATGGACAAGAGAATGATTCAACGAAGAATGAAATAAAA
ATTGAAACAGAATCGCAGAGCTCATATATGGAAACAGAAGAACTTTCATCAAACCAAGAAGATGCCGTGATTGTGGAGCAACCAGAAGTGATTCCATTAACAGAG
GACCAAGAAGAAAAAGAAGGTGAAAAAGCTCCAGGCGAGGACACACCTAGGATGCCTGGGAAAAGTGAAGGCTCCAGTGACCTAGAAAATACTCCAGGTCCTGAT
GTTGAAATGAATAGTCAGGTTGACAAGGTAAATGACCCAACAGAGAGTCAACAAGAAGATCAACTAATAGCAGGGGCACAAGATGAAGCGAAGGAACAAAGAAAT
GGAACTAAATGA

Show »

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	3 (4)	0 (4)	0 (0)	2 (7)	0 (0)	0 (1)	0 (0)	0 (0)	0 (0)	16 (16)

Syndromic Autism Gene Top

Genome-Wide Association Studies (By Ethnic Group) Top

Family Based Association Studies: 4

Reference	Stage	Platform	#Families	Affecteds						Result
Reference	Stage	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Anney, 2010_2	Replication	Illumina Human 1M-single Infinium BeadChip	595	1086 (-)			ASD	- -	- -
Anney, 2010_1	Discovery	Illumina Human 1M-single Infinium BeadChip	1369	1385 (-)			ASD	- -	- -
Hussman, 2011_1	Discovery	Illumina Infinium Human 1 M beadship	597	- (-)			ASD	- -	- -
MIXED/OTHERS
Anney R, 2012_2	-	Illumina Infinium 1M-single SNP microarray; Illumina 1M-duo microarray	2705	- (-)			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
Gregory, 2009	USA	aCGH			ASD	-	-	-	-	119	54	173
Pinto, 2010	-	SNP microarray, qPCR			ASD	-	-	-	-	996	1287	2283
Sanders, 2011	Simons Simplex Collection	SNP microarray	-	-	ASD	1127	1127	-	-	-	-	-
Gai, 2011	AGRE	SNP microarray	-	-	autism	-	-	-	-	1224	3801	5025

Linkage Studies Top

AutismKB 2.0

Evidence Details for MACROD2