Evidence Details for MAGI1

View Evidences	View Variants	View Annotations

Basic Information Top

Gene Symbol:	MAGI1 ( AIP3,BAIAP1,BAP1,MAGI-1,TNRC19,WWP3 )
Gene Full Name:	membrane associated guanylate kinase, WW and PDZ domain containing 1
Band:	3p14.1
Quick Links	Entrez ID:9223; OMIM: 602625; Uniprot ID:MAGI1_HUMAN; ENSEMBL ID: ENSG00000151276; HGNC ID: 946
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>MAGI1|9223|nucleotide
ATGTCCAAAGTGATCCAGAAGAAGAACCACTGGACTAGCAGGGTTCACGAATGCACCGTGAAGCGGGGACCCCAGGGCGAGCTGGGGGTGACGGTGCTGGGAGGC
GCGGAGCACGGGGAGTTTCCGTACGTCGGAGCGGTGGCGGCGGTCGAGGCAGCGGGGCTTCCCGGCGGCGGCGAGGGCCCGAGGCTGGGCGAAGGGGAGCTGCTT
CTGGAGGTGCAGGGGGTCCGGGTGTCCGGCTTGCCCCGCTATGACGTGCTGGGGGTCATCGACAGCTGCAAGGAGGCCGTCACCTTCAAGGCCGTCAGACAAGGA
GGAAGGCTGAACAAGGACCTGCGACATTTTCTCAATCAGCGATTCCAGAAGGGGTCTCCTGATCATGAGCTCCAGCAGACCATAAGGGATAACCTTTACCGCCAT
GCTGTGCCTTGCACAACCCGATCTCCCAGAGAAGGAGAAGTGCCTGGCGTGGACTATAACTTTCTGACTGTGAAGGAGTTCTTGGACCTCGAGCAGAGTGGGACT
CTTCTGGAAGTCGGCACCTATGAAGGAAACTATTATGGGACACCCAAGCCTCCTAGCCAGCCAGTCAGTGGGAAAGTGATCACGACGGATGCCTTGCACAGCCTT
CAGTCTGGCTCTAAGCAGTCGACCCCGAAGCGAACCAAGTCCTACAATGATATGCAAAATGCTGGCATAGTCCACGCGGAGAATGAGGAGGAGGATGACGTTCCT
GAAATGAACAGCAGCTTTACAGCCGATTCTGGTGAACAAGAGGAGCACACTCTCCAAGAAACAGCATTACCACCTGTGAATAGTAGCATCATCGCTGCTCCCATC
ACGGACCCTTCTCAGAAGTTCCCTCAATACCTACCTCTTTCTGCAGAGGATAATTTAGGTCCTCTACCTGAAAACTGGGAGATGGCCTATACTGAAAATGGAGAA
GTCTATTTTATAGACCATAACACGAAAACAACATCTTGGTTAGACCCTCGGTGCCTAAACAAGCAGCAGAAGCCACTGGAAGAGTGTGAAGATGATGAAGGGGTA
CACACCGAGGAGCTGGACAGTGAACTAGAACTGCCTGCTGGTTGGGAAAAGATTGAAGACCCTGTCTATGGTATCTACTATGTAGACCACATCAACAGGAAGACA
Show »

>MAGI1|9223|protein
MSKVIQKKNHWTSRVHECTVKRGPQGELGVTVLGGAEHGEFPYVGAVAAVEAAGLPGGGEGPRLGEGELLLEVQGVRVSGLPRYDVLGVIDSCKEAVTFKAVRQG
GRLNKDLRHFLNQRFQKGSPDHELQQTIRDNLYRHAVPCTTRSPREGEVPGVDYNFLTVKEFLDLEQSGTLLEVGTYEGNYYGTPKPPSQPVSGKVITTDALHSL
QSGSKQSTPKRTKSYNDMQNAGIVHAENEEEDDVPEMNSSFTADSGEQEEHTLQETALPPVNSSIIAAPITDPSQKFPQYLPLSAEDNLGPLPENWEMAYTENGE
VYFIDHNTKTTSWLDPRCLNKQQKPLEECEDDEGVHTEELDSELELPAGWEKIEDPVYGIYYVDHINRKTQYENPVLEAKRKKQLEQQQQQQQQQQQQQQQQQQQ
QTEEWTEDHSALVPPVIPNHPPSNPEPAREVPLQGKPFFTRNPSELKGKFIHTKLRKSSRGFGFTVVGGDEPDEFLQIKSLVLDGPAALDGKMETGDVIVSVNDT
Show »

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 (1)	0 (2)	0 (0)	0 (0)	1 (1)	0 (0)	0 (0)	0 (0)	0 (0)	1 (4)

Syndromic Autism Gene Top

Genome-Wide Association Studies (By Ethnic Group) Top

Family Based Association Studies: 1

Reference	Stage	Platform	#Families	Affecteds						Result
Reference	Stage	Platform	#Families	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)	Result
CAUCASIAN
Hussman, 2011_1	Discovery	Illumina Infinium Human 1 M beadship	597	- (-)			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
Marshall, 2008	-	SNP microarray			ASD	427	238	189	-	427	500	927
Sanders, 2011	Simons Simplex Collection	SNP microarray	-	-	ASD	1127	1127	-	-	-	-	-

Linkage Studies Top

AutismKB 2.0

Evidence Details for MAGI1