Evidence Details for JARID2

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Basic Information Top

Gene Symbol:	JARID2 ( JMJ )
Gene Full Name:	jumonji, AT rich interactive domain 2
Band:	6p22.3
Quick Links	Entrez ID:3720; OMIM: 601594; Uniprot ID:JARD2_HUMAN; ENSEMBL ID: ENSG00000008083; HGNC ID: 6196
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>JARID2|3720|nucleotide
ATGAGCAAGGAAAGACCCAAGAGGAATATCATTCAGAAGAAATACGATGACAGTGATGGGATTCCGTGGTCAGAAGAACGGGTGGTACGTAAAGTCCTTTATTTG
TCTCTGAAGGAGTTCAAGAATTCCCAGAAGAGGCAGCATGCGGAAGGCATTGCTGGGAGCCTGAAAACTGTGAATGGGCTCCTTGGTAATGACCAGTCTAAGGGA
TTAGGACCAGCATCAGAACAGTCAGAGAATGAAAAGGACGATGCATCCCAAGTGTCCTCCACTAGCAACGATGTTAGTTCTTCAGATTTTGAAGAAGGGCCGTCG
AGGAAAAGGCCCAGGCTGCAAGCACAAAGGAAGTTTGCTCAGTCTCAGCCGAATAGTCCCAGCACAACTCCAGTAAAGATAGTGGAGCCATTGCTACCCCCTCCA
GCTACTCAGATATCAGACCTCTCTAAAAGGAAGCCTAAGACAGAAGATTTTCTTACCTTTCTCTGCCTTCGAGGTTCTCCTGCGCTGCCCAACAGCATGGTGTAT
TTTGGAAGCTCTCAGGATGAGGAGGAAGTCGAGGAGGAAGATGATGAGACAGAAGACGTCAAAACAGCCACCAACAATGCTTCATCTTCATGCCAGTCGACCCCC
AGGAAAGGAAAAACCCACAAACATGTTCACAACGGGCATGTTTTCAATGGTTCCAGCAGGTCAACACGGGAGAAGGAACCTGTTCAAAAACACAAAAGCAAAGAG
GCCACTCCCGCAAAGGAGAAGCACAGCGATCACCGGGCTGACAGCCGCCGGGAGCAGGCTTCAGCTAACCACCCCGCAGCGGCCCCCTCCACGGGTTCCTCGGCC
AAGGGGCTTGCTGCCACCCATCACCACCCCCCTCTGCATCGGTCGGCTCAGGACTTACGGAAACAGGTTTCTAAGGTAAACGGAGTCACTCGAATGTCATCTCTG
GGTGCAGGTGTAACCAGTGCCAAAAAGATGCGCGAGGTCAGACCTTCACCATCCAAAACTGTGAAGTACACTGCCACGGTGACGAAGGGGGCTGTCACATACACC
AAAGCCAAGAGAGAACTGGTCAAGGACACCAAACCCAATCACCACAAGCCCAGTTCCGCTGTCAACCACACAATCTCAGGGAAAACTGAAAGTAGCAATGCAAAA
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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	2 (4)	0 (1)	0 (0)	1 (1)	0 (0)	0 (3)	0 (2)	0 (1)	0 (0)	10 (12)

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
Weiss, 2009_2	Replication	Affymetrix 5.0/500K arrays, Taqman assays	2073	- (-)			ASD	- -	- -
Hussman, 2011_1	Discovery	Illumina Infinium Human 1 M beadship	597	- (-)			ASD	- -	- -
MIXED/OTHERS
Weiss, 2009_1	Discovery	Affymetrix 5.0 and 500K arrays	1038	- (-)			ASD	- -	- -
Liu X, 2016_1	discovery	Affymetrix Genome-Wide Human SNP array 6.0 chips	-	156 (-)			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
Szatmari, 2007	Europe, North America	SNP microarray			ASD	1491	-	-	-	-	-	0

Linkage Studies Top

AutismKB 2.0

Evidence Details for JARID2