AutismKB 2.0

Evidence Details for MADCAM1


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Basic Information Top
Gene Symbol:MADCAM1 ( MACAM1 )
Gene Full Name: mucosal vascular addressin cell adhesion molecule 1
Band: 19p13.3
Quick LinksEntrez ID:8174; OMIM: 102670; Uniprot ID:MADCA_HUMAN; ENSEMBL ID: ENSG00000099866; HGNC ID: 6765
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MADCAM1|8174|nucleotide
ATGGATTTCGGACTGGCCCTCCTGCTGGCGGGGCTTCTGGGGCTCCTCCTCGGCCAGTCCCTCCAGGTGAAGCCCCTGCAGGTGGAGCCCCCGGAGCCGGTGGTG
GCCGTGGCCTTGGGCGCCTCGCGCCAGCTCACCTGCCGCCTGGCCTGCGCGGACCGCGGGGCCTCGGTGCAGTGGCGGGGCCTGGACACCAGCCTGGGCGCGGTG
CAGTCGGACACGGGCCGCAGCGTCCTCACCGTGCGCAACGCCTCGCTGTCGGCGGCCGGGACCCGCGTGTGCGTGGGCTCCTGCGGGGGCCGCACCTTCCAGCAC
ACCGTGCAGCTCCTTGTGTACGCCTTCCCGGACCAGCTGACCGTCTCCCCAGCAGCCCTGGTGCCTGGTGACCCGGAGGTGGCCTGTACGGCCCACAAAGTCACG
CCCGTGGACCCCAACGCGCTCTCCTTCTCCCTGCTCGTCGGGGGCCAGGAACTGGAGGGGGCGCAAGCCCTGGGCCCGGAGGTGCAGGAGGAGGAGGAGGAGCCC
CAGGGGGACGAGGACGTGCTGTTCAGGGTGACAGAGCGCTGGCGGCTGCCGCCCCTGGGGACCCCTGTCCCGCCCGCCCTCTACTGCCAGGCCACGATGAGGCTG
CCTGGCTTGGAGCTCAGCCACCGCCAGGCCATCCCCGTCCTGCACAGCCCGACCTCCCCGGAGCCTCCCGACACCACCTCCCCGGAGTCTCCCGACACCACCTCC
CCGGAGTCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCCGGAGCCTCCCGACAAGACCTCCCCGGAGCCCGCCCCCCAGCAGGGCTCCACACAC
ACCCCCAGGAGCCCAGGCTCCACCAGGACTCGCCGCCCTGAGATCTCCCAGGCTGGGCCCACGCAGGGAGAAGTGATCCCAACAGGCTCGTCCAAACCTGCGGGT
GACCAGCTGCCCGCGGCTCTGTGGACCAGCAGTGCGGTGCTGGGACTGCTGCTCCTGGCCTTGCCCACCTATCACCTCTGGAAACGCTGCCGGCACCTGGCTGAG
GACGACACCCACCCACCAGCTTCTCTGAGGCTTCTGCCCCAGGTGTCGGCCTGGGCTGGGTTAAGGGGGACCGGCCAGGTCGGGATCAGCCCCTCCTGA
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>MADCAM1|8174|protein
MDFGLALLLAGLLGLLLGQSLQVKPLQVEPPEPVVAVALGASRQLTCRLACADRGASVQWRGLDTSLGAVQSDTGRSVLTVRNASLSAAGTRVCVGSCGGRTFQH
TVQLLVYAFPDQLTVSPAALVPGDPEVACTAHKVTPVDPNALSFSLLVGGQELEGAQALGPEVQEEEEEPQGDEDVLFRVTERWRLPPLGTPVPPALYCQATMRL
PGLELSHRQAIPVLHSPTSPEPPDTTSPESPDTTSPESPDTTSQEPPDTTSPEPPDKTSPEPAPQQGSTHTPRSPGSTRTRRPEISQAGPTQGEVIPTGSSKPAG
DQLPAALWTSSAVLGLLLLALPTYHLWKRCRHLAEDDTHPPASLRLLPQVSAWAGLRGTGQVGISPS

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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) 1 (2) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (4)
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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top