Evidence Details for CNTN4

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Basic Information Top

Gene Symbol:	CNTN4 ( AXCAM,BIG-2,CNTN4A,MGC33615 )
Gene Full Name:	contactin 4
Band:	3p26.3-p26.2
Quick Links	Entrez ID:152330; OMIM: 607280; Uniprot ID:CNTN4_HUMAN; ENSEMBL ID: ENSG00000144619; HGNC ID: 2174
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>CNTN4|152330|nucleotide
ATGAGGTTGCCATGGGAACTGCTGGTACTGCAATCATTCATTTTGTGCCTTGCAGATGATTCCACACTGCATGGCCCGATTTTTATTCAAGAACCAAGTCCTGTA
ATGTTCCCTTTGGATTCTGAGGAGAAAAAAGTGAAGCTCAATTGTGAAGTTAAAGGAAATCCAAAACCTCATATCAGGTGGAAGTTAAATGGAACAGATGTTGAC
ACTGGTATGGATTTCCGCTACAGTGTTGTTGAAGGGAGCTTGTTGATCAATAACCCCAATAAAACCCAAGATGCTGGAACGTACCAGTGCACAGCGACAAACTCG
TTTGGAACAATTGTTAGCAGAGAAGCAAAGCTTCAGTTTGCTTATCTTGACAACTTTAAAACAAGAACAAGAAGCACTGTGTCTGTCCGTCGAGGTCAAGGAATG
GTGCTACTGTGTGGCCCGCCACCCCATTCTGGAGAGCTGAGTTATGCCTGGATCTTCAATGAATACCCTTCCTATCAGGATAATCGCCGCTTTGTTTCTCAAGAG
ACTGGGAATCTGTATATTGCCAAAGTAGAAAAATCAGATGTTGGGAATTATACCTGTGTGGTTACCAATACCGTGACAAACCACAAGGTCCTGGGGCCACCTACA
CCACTAATATTGAGAAATGATGGAGTGATGGGTGAATATGAGCCCAAAATAGAAGTGCAGTTCCCAGAAACAGTTCCGACTGCAAAAGGAGCAACGGTGAAGCTG
GAATGCTTTGCTTTAGGAAATCCAGTACCAACTATTATCTGGCGAAGAGCTGATGGAAAGCCAATAGCAAGGAAAGCCAGAAGACACAAGTCAAATGGAATTCTT
GAGATCCCTAATTTTCAGCAGGAGGATGCTGGTTTATATGAATGTGTAGCTGAAAATTCCAGAGGGAAAAATGTAGCAAGGGGACAGCTAACTTTCTATGCTCAA
CCTAATTGGATTCAAAAAATAAATGATATTCACGTGGCCATGGAAGAAAATGTCTTTTGGGAATGTAAAGCAAATGGAAGGCCTAAGCCTACATACAAGTGGCTA
AAAAATGGCGAACCTCTGCTAACTCGGGATAGAATTCAAATTGAGCAAGGAACACTCAACATAACAATAGTGAACCTCTCAGATGCTGGCATGTATCAGTGTTTG
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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	1 (1)	1 (7)	0 (0)	1 (1)	0 (0)	0 (1)	0 (0)	0 (1)	1 (1)	18 (12)

Syndromic Autism Gene Top

Genome-Wide Association Studies (By Ethnic Group) Top

Family Based Association Studies: 0

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

Case Control Based Association Studies: 1

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
MIXED/OTHERS
Liu X, 2016_2	replication	TaqMan	1409 (-)			ASD	- -	-	184 (-)	- -

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
Christian, 2008	USA	aCGH			ASD	397	35	362	-	397	372	769
Roohi, 2009	-	aCGH			ASD	81	-	-	-	92	-	92
Pinto, 2010	-	SNP microarray, qPCR			ASD	-	-	-	-	996	1287	2283
Gai, 2011	AGRE	SNP microarray	-	-	autism	-	-	-	-	1224	3801	5025
Bremer, 2011	-	aCGH			ASD	-	-	-	-	223	-	223
Hu J, 2015	-	aCGH;FISH	-	-	ASD	-	-	-	-	3724	-	3724
C Yuen RK, 2017	-	WGS			ASD	-	-	-	-	1745	-	-

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: 0

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

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
MIXED/OTHERS
Poot M, 2014_1	Unknown	Illumina Infinium HumanHap300 Genotyping BeadChip SNP arrays			ASD	- -	-	117 (-)	- 20-49?

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

NGS Mosaic SNV Studies Top

Reference	Case Number	Family Number	Mosaic Number	Title
No matched NGS Mosaic SNVs!

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
Kalsner L, 2018	-	-			ASD	-	-	-	100	-

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 CNTN4

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics