AutismKB 2.0

Evidence Details for MAGEC1


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Basic Information Top
Gene Symbol:MAGEC1 ( CT7,CT7.1,MGC39366 )
Gene Full Name: melanoma antigen family C, 1
Band: Xq27.2
Quick LinksEntrez ID:9947; OMIM: 300223; Uniprot ID:MAGC1_HUMAN; ENSEMBL ID: ENSG00000155495; HGNC ID: 6812
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MAGEC1|9947|nucleotide
ATGGGGGACAAGGATATGCCTACTGCTGGGATGCCGAGTCTTCTCCAGAGTTCCTCTGAGAGTCCTCAGAGTTGTCCTGAGGGGGAGGACTCCCAGTCTCCTCTC
CAGATTCCCCAGAGTTCTCCTGAGAGCGACGACACCCTGTATCCTCTCCAGAGTCCTCAGAGTCGTTCTGAGGGGGAGGACTCCTCGGATCCTCTCCAGAGACCT
CCTGAGGGGAAGGACTCCCAGTCTCCTCTCCAGATTCCCCAGAGTTCTCCTGAGGGCGACGACACCCAGTCTCCTCTCCAGAATTCTCAGAGTTCTCCTGAGGGG
AAGGACTCCCTGTCTCCTCTAGAGATTTCTCAGAGCCCTCCTGAGGGTGAGGATGTCCAGTCTCCTCTGCAGAATCCTGCGAGTTCCTTCTTCTCCTCTGCTTTA
TTGAGTATTTTCCAGAGTTCCCCTGAGAGTACTCAAAGTCCTTTTGAGGGTTTTCCCCAGTCTGTTCTCCAGATTCCTGTGAGCGCCGCCTCCTCCTCCACTTTA
GTGAGTATTTTCCAGAGTTCCCCTGAGAGTACTCAAAGTCCTTTTGAGGGTTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTA
TTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTA
CTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTA
GTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCACTTTA
TTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCACAGTACTTTTGAGGGTTTTCCCCAGTCTCTTCTCCAGATTCCTATGACCTCCTCCTTCTCCTCTACTTTA
TTGAGTATTTTCCAGAGTTCTCCTGAGAGTGCTCAAAGTACTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGGGAGCCCCTCCTTCTCCTCCACTTTA
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>MAGEC1|9947|protein
MGDKDMPTAGMPSLLQSSSESPQSCPEGEDSQSPLQIPQSSPESDDTLYPLQSPQSRSEGEDSSDPLQRPPEGKDSQSPLQIPQSSPEGDDTQSPLQNSQSSPEG
KDSLSPLEISQSPPEGEDVQSPLQNPASSFFSSALLSIFQSSPESTQSPFEGFPQSVLQIPVSAASSSTLVSIFQSSPESTQSPFEGFPQSPLQIPVSRSFSSTL
LSIFQSSPERTQSTFEGFAQSPLQIPVSPSSSSTLLSLFQSFSERTQSTFEGFAQSSLQIPVSPSFSSTLVSLFQSSPERTQSTFEGFPQSPLQIPVSSSSSSTL
LSLFQSSPERTHSTFEGFPQSLLQIPMTSSFSSTLLSIFQSSPESAQSTFEGFPQSPLQIPGSPSFSSTLLSLFQSSPERTHSTFEGFPQSPLQIPMTSSFSSTL
LSILQSSPESAQSAFEGFPQSPLQIPVSSSFSYTLLSLFQSSPERTHSTFEGFPQSPLQIPVSSSSSSSTLLSLFQSSPECTQSTFEGFPQSPLQIPQSPPEGEN
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top