AutismKB 2.0

Evidence Details for ANTXR2


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Basic Information Top
Gene Symbol:ANTXR2 ( CMG-2,CMG2,FLJ31074,ISH,JHF,MGC111533,MGC45856 )
Gene Full Name: anthrax toxin receptor 2
Band: 4q21.21
Quick LinksEntrez ID:118429; OMIM: 608041; Uniprot ID:ANTR2_HUMAN; ENSEMBL ID: ENSG00000163297; HGNC ID: 21732
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ANTXR2|118429|nucleotide
ATGGTGGCGGAGCGGTCCCCGGCCCGCAGCCCCGGGAGCTGGCTGTTCCCCGGGCTGTGGCTGTTGGTGCTCAGCGGTCCCGGGGGGCTGCTGCGCGCCCAGGAG
CAGCCCTCCTGCAGAAGAGCCTTTGATCTCTACTTCGTCCTGGACAAGTCTGGGAGTGTGGCAAATAACTGGATTGAAATTTATAATTTCGTACAGCAACTTGCG
GAGAGATTTGTGAGCCCTGAAATGAGATTATCTTTCATTGTGTTTTCTTCTCAAGCAACTATTATTTTGCCATTAACTGGAGACAGAGGCAAAATCAGTAAAGGC
TTGGAGGATTTAAAACGTGTTAGTCCAGTAGGAGAGACATATATCCATGAAGGACTAAAGCTAGCGAATGAACAAATTCAGAAAGCAGGAGGCTTGAAAACCTCC
AGTATCATAATTGCTCTGACAGATGGCAAGTTGGACGGTCTGGTGCCATCATATGCAGAGAAAGAGGCAAAGATATCCAGGTCACTTGGGGCTAGTGTTTATTGT
GTTGGTGTCCTTGATTTTGAACAAGCACAGCTTGAAAGAATTGCTGATTCCAAGGAGCAAGTTTTCCCTGTCAAAGGTGGATTTCAGGCTCTTAAAGGAATAATT
AATTCTATACTAGCTCAGTCATGTACTGAAATCCTAGAATTGCAGCCCTCAAGTGTCTGTGTGGGGGAGGAATTTCAGATTGTCTTAAGTGGAAGAGGATTCATG
CTGGGCAGTCGGAATGGCAGTGTTCTCTGCACTTACACTGTAAATGAAACATATACAACGAGTGTAAAACCAGTAAGTGTACAGCTTAATTCTATGCTTTGTCCT
GCACCTATCCTGAATAAAGCTGGAGAAACTCTTGATGTTTCAGTGAGCTTTAATGGAGGAAAATCTGTCATTTCAGGATCATTAATTGTCACAGCCACAGAATGT
TCTAACGGGATCGCAGCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTTTGGCCCCTTTGCTGCAAAGTGGTTATTAAG
GATCCTCCACCACCACCCGCCCCTGCACCAAAAGAGGAGGAAGAAGAACCTTTGCCTACTAAAAAGTGGCCAACTGTGGATGCTTCCTATTATGGTGGTCGAGGG
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>ANTXR2|118429|protein
MVAERSPARSPGSWLFPGLWLLVLSGPGGLLRAQEQPSCRRAFDLYFVLDKSGSVANNWIEIYNFVQQLAERFVSPEMRLSFIVFSSQATIILPLTGDRGKISKG
LEDLKRVSPVGETYIHEGLKLANEQIQKAGGLKTSSIIIALTDGKLDGLVPSYAEKEAKISRSLGASVYCVGVLDFEQAQLERIADSKEQVFPVKGGFQALKGII
NSILAQSCTEILELQPSSVCVGEEFQIVLSGRGFMLGSRNGSVLCTYTVNETYTTSVKPVSVQLNSMLCPAPILNKAGETLDVSVSFNGGKSVISGSLIVTATEC
SNGIAAIIVILVLLLLLGIGLMWWFWPLCCKVVIKDPPPPPAPAPKEEEEEPLPTKKWPTVDASYYGGRGVGGIKRMEVRWGDKGSTEEGARLEKAKNAVVKIPE
ETEEPIRPRPPRPKPTHQPPQTKWYTPIKGRLDALWALLRRQYDRVSLMRPQEGDEVCIWECIEKELTA
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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 (3) 0 (0) 0 (0) 0 (0) 0 (0) 3 (3) 0 (0) 0 (0) 3 (6)
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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Nord, 2011 US aCGH--ASD - - - - 41 367 408
Linkage Studies Top