Evidence Details for MBD5

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Basic Information Top

Gene Symbol:	MBD5 ( FLJ11113,FLJ30517,KIAA1461,MRD1 )
Gene Full Name:	methyl-CpG binding domain protein 5
Band:	2q23.2
Quick Links	Entrez ID:55777; OMIM: 611472; Uniprot ID:MBD5_HUMAN; ENSEMBL ID: ENSG00000204406; HGNC ID: 20444
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>MBD5|55777|nucleotide
ATGAATGGAGGCAAAGAGTGTGACGGAGGGGACAAGGAAGGAGGTCTTCCAGCTATACAAGTTCCTGTGGGTTGGCAGCGTCGTGTGGATCAAAATGGAGTGCTT
TATGTCAGTCCCAGTGGGTCTTTGTTATCTTGCTTGGAGCAGGTTAAAACATACCTGCTTACTGATGGAACATGCAAGTGTGGCTTGGAATGTCCTCTTATTCTT
CCCAAGGTATTTAATTTTGATCCTGGAGCTGCTGTGAAACAGAGAACCGCAGAAGATGTTAAGGCAGATGAAGATGTCACAAAGCTATGCATACATAAAAGAAAA
ATTATTGCAGTGGCCACACTTCATAAAAGCATGGAAGCCCCACATCCTTCTCTGGTGCTCACCAGTCCCGGAGGAGGAACAAATGCAACTCCAGTAGTACCTTCT
CGGGCAGCAACTCCAAGATCAGTAAGAAATAAGTCTCATGAAGGAATTACAAATTCTGTAATGCCTGAATGTAAGAATCCTTTCAAGTTAATGATTGGATCATCA
AATGCCATGGGAAGGCTATATGTACAAGAACTGCCTGGAAGCCAACAACAAGAACTCCACCCTGTCTACCCCCGACAGAGATTGGGCAGCAGTGAACATGGACAG
AAATCTCCATTCCGTGGCAGCCATGGAGGCCTGCCCAGCCCAGCGTCATCAGGTTCCCAGATATATGGAGATGGTTCAATCTCTCCAAGGACTGACCCACTTGGA
AGTCCTGATGTTTTCACAAGAAGTAATCCTGGTTTTCATGGAGCTCCCAATTCTAGTCCTATTCACCTGAATAGGACTCCTCTTTCTCCACCTTCAGTAATGCTA
CATGGTTCTCCTGTACAGTCATCCTGTGCAATGGCTGGAAGGACTAATATACCTCTTTCCCCAACCTTGACTACAAAGAGTCCAGTAATGAAAAAACCAATGTGT
AATTTTTCAACTAATATGGAAATACCACGAGCAATGTTCCACCACAAACCACCCCAAGGCCCACCTCCCCCTCCTCCACCTTCTTGTGCTCTTCAGAAAAAGCCA
TTAACATCTGAGAAAGATCCACTTGGCATTCTTGACCCTATTCCTAGTAAACCAGTGAATCAGAACCCTGTTATCATTAATCCAACCAGTTTCCATTCAAATGTC
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>MBD5|55777|protein
MNGGKECDGGDKEGGLPAIQVPVGWQRRVDQNGVLYVSPSGSLLSCLEQVKTYLLTDGTCKCGLECPLILPKVFNFDPGAAVKQRTAEDVKADEDVTKLCIHKRK
IIAVATLHKSMEAPHPSLVLTSPGGGTNATPVVPSRAATPRSVRNKSHEGITNSVMPECKNPFKLMIGSSNAMGRLYVQELPGSQQQELHPVYPRQRLGSSEHGQ
KSPFRGSHGGLPSPASSGSQIYGDGSISPRTDPLGSPDVFTRSNPGFHGAPNSSPIHLNRTPLSPPSVMLHGSPVQSSCAMAGRTNIPLSPTLTTKSPVMKKPMC
NFSTNMEIPRAMFHHKPPQGPPPPPPPSCALQKKPLTSEKDPLGILDPIPSKPVNQNPVIINPTSFHSNVHSQVPMMNVSMPPAVVPLPSNLPLPTVKPGHMNHG
SHVQRVQHSASTSLSPSPVTSPVHMMGTGIGRIEASPQRSRSSSTSSDHGNFMMPPVGPQATSSGIKVPPRSPRSTIGSPRPSMPSSPSTKSDGHHQYKDIPNPL
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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)	Yes	0 (1)	1 (4)	0 (0)	0 (0)	0 (0)	1 (4)	0 (1)	1 (2)	0 (0)	20 (12)

Syndromic Autism Gene Top

Abbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.

Inheritance	AD
OMIM	Mental retardation (156200)
Description	MBD5 is the only gene deleted in all subjects with the 2q23.1 microdeletion syndrome
Reference(s)	18812405; 19809484;
Level	Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder.

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
Pinto, 2010	-	SNP microarray, qPCR			ASD	-	-	-	-	996	1287	2283
Yuen RK, 2016	-	WGS			ASD	200	-	-	-	200	-	-
Woodbury-Smith M, 2017	-	Microarray			ASD	-	-	-	-	1	-	-
C Yuen RK, 2017	-	WGS			ASD	-	-	-	-	1745	-	-

Linkage Studies Top

AutismKB 2.0

Evidence Details for MBD5