Evidence Details for MAPK8IP3

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Basic Information Top

Gene Symbol:	MAPK8IP3 ( DKFZp762N1113,FLJ00027,JIP3,JSAP1,KIAA1066,SYD2,syd )
Gene Full Name:	mitogen-activated protein kinase 8 interacting protein 3
Band:	16p13.3
Quick Links	Entrez ID:23162; OMIM: 605431; Uniprot ID:JIP3_HUMAN; ENSEMBL ID: ENSG00000138834; HGNC ID: 6884
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>MAPK8IP3|23162|nucleotide
ATGATGGAGATCCAGATGGACGAGGGCGGCGGCGTGGTGGTGTACCAGGACGACTACTGCTCCGGCTCGGTGATGTCGGAGCGGGTGTCGGGCCTGGCGGGCTCC
ATCTACCGCGAGTTCGAGCGCCTCATCCACTGCTACGACGAGGAGGTGGTCAAGGAGCTCATGCCGCTGGTGGTGAACGTGCTGGAGAACCTAGACTCGGTGCTC
AGCGAGAACCAGGAGCACGAGGTGGAGCTGGAGCTGCTGCGCGAGGACAACGAGCAGCTGCTCACCCAGTACGAGCGTGAGAAGGCGCTGCGCAGGCAGGCGGAG
GAGAAATTCATTGAGTTTGAAGATGCTCTGGAACAAGAGAAGAAAGAGCTGCAAATCCAGGTGGAGCACTACGAGTTCCAGACGCGCCAGCTGGAGCTGAAGGCC
AAGAACTATGCCGATCAGATTTCCCGGTTGGAGGAGCGGGAGTCGGAGATGAAGAAGGAGTACAATGCCCTGCACCAGCGGCACACAGAGATGATACAGACCTAC
GTGGAGCACATTGAGAGGTCCAAGATGCAGCAGGTCGGAGGAAACAGCCAGACCGAGAGCAGCCTGCCGGGGCGGAGGAAGGAGCGCCCCACCTCCCTGAACGTG
TTCCCCCTGGCTGACGGCACGGTACGTGCACAGATCGGGGGCAAGCTCGTGCCTGCGGGGGACCACTGGCACCTGAGTGACCTCGGCCAGCTGCAGTCCAGCTCC
AGCTACCAGTGTCCACAGGATGAAATGTCCGAGTCAGGCCAGTCCTCGGCGGCCGCCACACCCAGCACCACAGGCACCAAGTCCAACACGCCCACATCCTCCGTG
CCCTCGGCCGCCGTCACACCCCTCAACGAGAGCCTGCAGCCCCTGGGGGACTATGGCGTGGGCTCCAAGAACAGCAAGCGTGCCCGGGAGAAGCGCGACAGCCGC
AACATGGAAGTACAGGTCACCCAGGAGATGCGCAACGTCAGTATAGGCATGGGCAGCAGTGACGAGTGGTCTGATGTTCAAGACATTATTGACTCCACGCCAGAG
CTGGACATGTGTCCAGAGACCCGCCTGGACCGCACAGGAAGCAGCCCAACCCAGGGCATCGTGAACAAAGCTTTCGGCATCAACACCGACTCCCTGTACCATGAG
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Evidence summary Top

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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)	0 (2)	1 (2)	0 (0)	0 (0)	1 (1)	0 (1)	0 (0)	0 (0)	12 (6)

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
Sanders, 2011	Simons Simplex Collection	SNP microarray	-	-	ASD	1127	1127	-	-	-	-	-

Linkage 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
Buxbaum, 2004	USA	microsatellite-based genomic screen			autism	115	-	115	-	-	-	-
Lauritsen, 2006	Faroe Islands	microsatellite-based genomic screen			autism	-	-	-	-	12	44	56

Low Scale Association Studies (by Ethnic Group) Top

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

Reference	Source	Platfrom	ASD Cases	Normal Controls	Result
ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
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
Iossifov I, 2014	2508	-	1194	The contribution of de novo coding mutations to autism spectrum disorder.

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.

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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 MAPK8IP3

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics