AutismKB 2.0

Evidence Details for BTN1A1


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Basic Information Top
Gene Symbol:BTN1A1 ( BT,BTN )
Gene Full Name: butyrophilin, subfamily 1, member A1
Band: 6p22.2
Quick LinksEntrez ID:696; OMIM: 601610; Uniprot ID:BT1A1_HUMAN; ENSEMBL ID: ENSG00000124557; HGNC ID: 1135
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BTN1A1|696|nucleotide
ATGGCAGTTTTCCCAAGCTCCGGTCTCCCCAGATGTCTGCTCACCCTCATTCTCCTCCAGCTGCCCAAACTGGATTCAGCTCCCTTTGACGTGATTGGACCCCCG
GAGCCCATCCTGGCCGTTGTGGGTGAGGACGCCGAGCTGCCCTGTCGCCTGTCTCCGAACGCGAGCGCCGAGCACTTGGAGCTACGCTGGTTCCGAAAGAAGGTT
TCGCCGGCCGTGCTGGTGCATAGGGACGGGCGCGAGCAGGAAGCCGAGCAGATGCCCGAGTACCGCGGGCGGGCGACGCTGGTCCAGGACGGCATCGCCAAGGGG
CGCGTGGCCTTGAGGATCCGTGGCGTCAGAGTCTCTGACGACGGGGAGTACACGTGCTTTTTCAGGGAGGATGGAAGCTACGAAGAAGCCCTGGTGCATCTGAAG
GTGGCTGCTCTGGGCTCTGACCCTCACATCAGTATGCAAGTTCAAGAGAATGGAGAAATCTGTCTGGAGTGCACCTCAGTGGGATGGTACCCAGAGCCCCAGGTG
CAGTGGAGAACTTCCAAGGGAGAGAAGTTTCCATCTACATCAGAGTCCAGGAATCCTGATGAAGAAGGTTTGTTCACTGTGGCTGCTTCAGTGATCATCAGAGAC
ACTTCTGCGAAAAATGTGTCCTGCTACATCCAGAATCTCCTTCTTGGCCAGGAGAAGAAAGTAGAAATATCCATACCAGCTTCCTCCCTCCCAAGGCTGACTCCC
TGGATAGTGGCTGTGGCTGTCATCCTGATGGTTCTAGGACTTCTCACCATTGGGTCCATATTTTTCACTTGGAGACTATACAACGAAAGACCCAGAGAGAGGAGG
AATGAATTCAGCTCTAAAGAGAGACTCCTGGAAGAACTCAAATGGAAAAAGGCTACCTTGCATGCAGTTGATGTGACTCTGGACCCAGACACAGCTCATCCCCAC
CTCTTTCTTTATGAGGATTCAAAATCTGTTCGACTGGAAGATTCACGTCAGAAACTGCCTGAGAAAACAGAGAGATTTGACTCCTGGCCCTGTGTGTTGGGCCGT
GAGACCTTCACCTCAGGAAGGCATTACTGGGAGGTGGAGGTGGGAGACAGGACTGACTGGGCAATCGGCGTGTGTAGGGAGAATGTGATGAAGAAAGGATTTGAC
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>BTN1A1|696|protein
MAVFPSSGLPRCLLTLILLQLPKLDSAPFDVIGPPEPILAVVGEDAELPCRLSPNASAEHLELRWFRKKVSPAVLVHRDGREQEAEQMPEYRGRATLVQDGIAKG
RVALRIRGVRVSDDGEYTCFFREDGSYEEALVHLKVAALGSDPHISMQVQENGEICLECTSVGWYPEPQVQWRTSKGEKFPSTSESRNPDEEGLFTVAASVIIRD
TSAKNVSCYIQNLLLGQEKKVEISIPASSLPRLTPWIVAVAVILMVLGLLTIGSIFFTWRLYNERPRERRNEFSSKERLLEELKWKKATLHAVDVTLDPDTAHPH
LFLYEDSKSVRLEDSRQKLPEKTERFDSWPCVLGRETFTSGRHYWEVEVGDRTDWAIGVCRENVMKKGFDPMTPENGFWAVELYGNGYWALTPLRTPLPLAGPPR
RVGIFLDYESGDISFYNMNDGSDIYTFSNVTFSGPLRPFFCLWSSGKKPLTICPIADGPERVTVIANAQDLSKEIPLSPMGEDSAPRDADTLHSKLIPTQPSQGA
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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top