Evidence Details for DISC1

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Basic Information Top

Gene Symbol:	DISC1 ( C1orf136,FLJ13381,FLJ21640,FLJ25311,FLJ41105,KIAA0457,SCZD9 )
Gene Full Name:	disrupted in schizophrenia 1
Band:	1q42.2
Quick Links	Entrez ID:27185; OMIM: 605210; Uniprot ID:DISC1_HUMAN; ENSEMBL ID: ENSG00000162946; HGNC ID: 2888
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>DISC1|27185|nucleotide
ATGCCAGGCGGGGGTCCTCAGGGCGCCCCAGCCGCCGCCGGCGGCGGCGGCGTGAGCCACCGCGCAGGCAGCCGGGATTGCTTACCACCTGCAGCGTGCTTTCGG
AGGCGGCGGCTGGCACGGAGGCCGGGCTACATGAGAAGCTCGACAGGGCCTGGGATCGGGTTCCTTTCCCCAGCAGTGGGCACACTGTTCCGGTTCCCAGGAGGG
GTGTCTGGCGAGGAGTCCCACCACTCGGAGTCCAGGGCCAGACAGTGTGGCCTTGACTCGAGAGGCCTCTTGGTCCGGAGCCCTGTTTCCAAGAGTGCAGCAGCC
CCTACTGTGACCTCTGTGAGAGGAACCTCGGCGCACTTTGGGATTCAGCTCAGAGGTGGCACCAGATTGCCTGACAGGCTTAGCTGGCCGTGTGGCCCTGGGAGT
GCTGGGTGGCAGCAAGAGTTTGCAGCCATGGATAGTTCTGAGACCCTGGACGCCAGCTGGGAGGCAGCCTGCAGCGATGGAGCAAGGCGTGTCCGGGCAGCAGGC
TCTCTGCCATCAGCAGAGTTGAGTAGCAACAGCTGCAGCCCTGGCTGTGGCCCTGAGGTCCCCCCAACCCCTCCTGGCTCTCACAGTGCCTTTACCTCAAGCTTT
AGCTTTATTCGGCTCTCGCTTGGCTCTGCCGGGGAACGTGGAGAAGCAGAAGGCTGCCCACCATCCAGAGAGGCTGAGTCCCATTGCCAGAGCCCCCAGGAGATG
GGAGCCAAAGCTGCCAGCTTGGACGGGCCTCACGAGGACCCGCGATGTCTCTCTCGGCCCTTCAGTCTCTTGGCTACACGGGTCTCTGCAGACTTGGCCCAGGCC
GCAAGGAACAGCTCCAGGCCAGAGCGTGACATGCATTCTTTACCAGACATGGACCCTGGCTCCTCCAGTTCTCTGGATCCCTCACTGGCTGGCTGTGGTGGTGAT
GGGAGCAGCGGCTCAGGGGATGCCCACTCTTGGGACACCCTGCTCAGGAAATGGGAGCCAGTGCTGCGGGACTGCCTGCTGAGAAACCGGAGGCAGATGGAGGTA
ATATCCTTAAGATTAAAACTTCAGAAACTTCAGGAAGATGCAGTTGAGAATGATGATTATGATAAAGCTGAGACGTTACAACAAAGATTAGAAGACCTGGAACAA
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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 (0)	1 (4)	0 (0)	2 (4)	0 (0)	0 (2)	1 (1)	0 (0)	1 (2)	17 (13)

Syndromic Autism Gene Top

Genome-Wide Association Studies(By Ethnic Group) Top

Reference	Stage	Platform	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

Reference	Stage	Platform	ASD Cases	Normal Controls	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
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
Gai, 2011	AGRE	SNP microarray	-	-	autism	-	-	-	-	1224	3801	5025
Kousoulidou L, 2013	Cyprus	aCGH			ASD	-	-	-	-	50	50	100
Kanduri C, 2016	Finnish	-			autism	83	-	-	-	257	288	545

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: 3

Reference	Source	Platform	#Families	Affecteds						Result
Reference	Source	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Kilpinen, 2008_1	Finland	MassARRAY Platform, ABI 3730 DNA sequencer, GeneMapper v.3.0, PEDCHECK v.1.1	97	138 (23.91%)			ASD	- -	- -
Kilpinen, 2008_2	Finland	MassARRAY Platform, ABI 3730 DNA sequencer, GeneMapper v.3.0, PEDCHECK v.1.1	29	143 (40.56%)			AS	- -	- -
ASIAN
Zheng, 2011_1	China	PCR-RFLP,direct DNA sequencing	367	367 (8.45%)			autism	7.5 (3-17)	- -

Case Control Based Association Studies: 1

Reference	Source	Platfrom	ASD Cases					Normal Controls		Result
Reference	Source	Platfrom	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)	Result
ASIAN
Lim, 2009_1	Korea	-			ASD	39.9±4.8(male), 14.1±3.2(female) -	-	305 (51.80%)	39.9±5.8(male), 33.5±6.2(female) -

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
Sanders SJ, 2012	-	238	172	De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
Turner TN, 2016	53	-	27	Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DN

NGS Mosaic SNV Studies Top

Reference	Case Number	Family Number	Mosaic Number	Title
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
No matched NGS Other Studies!

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 DISC1

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics