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

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: 1

Reference	Source	Platform	#Families	Affecteds						Result
Reference	Source	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
MIXED/OTHERS
Ramos PS, 2012_1	USA	Illumina Hap 550 platform	1510	- (-)			ASD	- -	- -

Case Control Based Association Studies: 0

Reference	Source	Platfrom	ASD Cases					Normal Controls		Result
Reference	Source	Platfrom	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
No Evidence.

Large Scale Expression Studies Top

Reference	Source	Tissue	#Subjects (% Women)	ADI-R	ADOS	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
No Evidence.

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
Iossifov I, 2014	2508	-	1194	The contribution of de novo coding mutations to autism spectrum disorder.
Yuen RK, 2016	200	-	301	Genome-wide characteristics of de novo mutations in autism.

NGS Mosaic SNV Studies Top

Reference	Case Number	Family Number	Mosaic Number	Title
Dou Y, 2017	-	2361	230	Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and
Lim ET, 2017	-	5947	376	Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

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
Cukier HN, 2014	-	Illumina HiSeq 2000			ASD	40	-	-	100	HumanExome BeadChip or Sanger sequencing

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 JARID2

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics