AutismKB 2.0

Evidence Details for ARNT2


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Basic Information Top
Gene Symbol:ARNT2 ( KIAA0307,bHLHe1 )
Gene Full Name: aryl-hydrocarbon receptor nuclear translocator 2
Band: 15q25.1
Quick LinksEntrez ID:9915; OMIM: 606036; Uniprot ID:ARNT2_HUMAN; ENSEMBL ID: ENSG00000172379; HGNC ID: 16876
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ARNT2|9915|nucleotide
ATGGCAACCCCGGCGGCGGTCAACCCTCCGGAAATGGCTTCAGACATACCTGGATCTGTGACGTTGCCCGTTGCCCCCATGGCGGCCACCGGACAGGTGAGGATG
GCGGGGGCCATGCCTGCCCGTGGAGGAAAGCGGCGTTCCGGAATGGACTTCGATGATGAAGATGGTGAAGGCCCCAGTAAATTTTCAAGAGAGAATCATAGTGAA
ATCGAAAGGCGCAGACGGAACAAGATGACTCAGTACATCACGGAGCTCTCCGACATGGTCCCCACATGCAGCGCACTGGCTCGGAAGCCAGACAAGCTCACCATC
CTCCGCATGGCCGTCTCGCACATGAAGTCCATGAGGGGTACAGGGAACAAGTCCACCGATGGCGCGTACAAGCCTTCCTTCCTCACAGAGCAGGAACTGAAGCAT
CTCATCCTTGAAGCAGCTGATGGATTTCTGTTTGTGGTGGCTGCTGAGACAGGGCGAGTGATTTATGTGTCTGACTCCGTCACCCCTGTTCTGAACCAGCCCCAG
TCAGAGTGGTTTGGGAGCACACTGTATGAACAGGTGCATCCTGATGACGTGGAGAAGCTGAGAGAGCAACTGTGCACCTCAGAAAACTCAATGACAGGCCGGATC
TTGGACCTGAAGACTGGGACGGTCAAGAAAGAAGGGCAGCAGTCATCCATGAGGATGTGCATGGGCTCGCGGCGGTCTTTCATCTGCAGGATGAGGTGTGGAAAT
GCTCCTTTGGACCACCTTCCTCTAAACAGAATAACCACCATGAGGAAAAGGTTCAGGAATGGCCTTGGCCCTGTGAAAGAAGGAGAAGCCCAATATGCTGTGGTC
CACTGTACAGGATACATCAAGGCCTGGCCACCAGCAGGAATGACCATACCTGAAGAAGACGCTGATGTGGGACAAGGCAGTAAATATTGCCTCGTGGCAATTGGG
AGACTCCAGGTGACCAGCTCTCCTGTATGCATGGACATGAATGGGATGTCGGTGCCCACAGAGTTCTTATCCCGGCATAACTCCGATGGAATCATCACATTTGTG
GATCCAAGATGTATCAGTGTGATTGGCTACCAACCCCAGGATCTTCTGGGAAAGGACATTTTGGAATTCTGCCACCCTGAGGATCAAAGCCATCTGCGTGAGAGC
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>ARNT2|9915|protein
MATPAAVNPPEMASDIPGSVTLPVAPMAATGQVRMAGAMPARGGKRRSGMDFDDEDGEGPSKFSRENHSEIERRRRNKMTQYITELSDMVPTCSALARKPDKLTI
LRMAVSHMKSMRGTGNKSTDGAYKPSFLTEQELKHLILEAADGFLFVVAAETGRVIYVSDSVTPVLNQPQSEWFGSTLYEQVHPDDVEKLREQLCTSENSMTGRI
LDLKTGTVKKEGQQSSMRMCMGSRRSFICRMRCGNAPLDHLPLNRITTMRKRFRNGLGPVKEGEAQYAVVHCTGYIKAWPPAGMTIPEEDADVGQGSKYCLVAIG
RLQVTSSPVCMDMNGMSVPTEFLSRHNSDGIITFVDPRCISVIGYQPQDLLGKDILEFCHPEDQSHLRESFQQVVKLKGQVLSVMYRFRTKNREWMLIRTSSFTF
QNPYSDEIEYIICTNTNVKQLQQQQAELEVHQRDGLSSYDLSQVPVPNLPAGVHEAGKSVEKADAIFSQERDPRFAEMFAGISASEKKMMSSASAAGTQQIYSQG
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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) 0 (0) 1 (2) 0 (0) 0 (2) 0 (0) 1 (1) 0 (0) 12 (7)
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
Bonati, 2005 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top