AutismKB 2.0

Evidence Details for BST1


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Basic Information Top
Gene Symbol:BST1 ( CD157 )
Gene Full Name: bone marrow stromal cell antigen 1
Band: 4p15.32
Quick LinksEntrez ID:683; OMIM: 600387; Uniprot ID:BST1_HUMAN; ENSEMBL ID: ENSG00000109743; HGNC ID: 1118
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>BST1|683|nucleotide
ATGGCGGCCCAGGGGTGCGCGGCATCGCGGCTGCTCCAGCTGCTGCTGCAGCTTCTGCTTCTACTGTTGCTGCTGGCGGCGGGCGGGGCGCGCGCGCGGTGGCGC
GGGGAGGGCACCAGCGCACACTTGCGGGACATCTTCCTGGGCCGCTGCGCCGAGTACCGCGCACTGCTGAGTCCCGAGCAGCGGAACAAGAACTGCACAGCCATC
TGGGAAGCCTTTAAAGTGGCGCTGGACAAGGATCCCTGCTCCGTGCTGCCCTCAGACTATGACCTTTTTATTAACTTGTCCAGGCACTCTATTCCCAGAGATAAG
TCCCTGTTCTGGGAAAATAGCCACCTCCTTGTTAACAGCTTTGCAGACAACACCCGTCGTTTTATGCCCCTGAGCGATGTTCTGTATGGCAGGGTTGCAGATTTC
TTGAGCTGGTGTCGACAGAAAAATGACTCTGGACTCGATTACCAATCCTGCCCTACATCAGAAGACTGTGAAAATAATCCTGTGGATTCCTTTTGGAAAAGGGCA
TCCATCCAGTATTCCAAGGATAGTTCTGGGGTGATCCACGTCATGCTGAATGGTTCAGAGCCAACAGGAGCCTATCCCATCAAAGGTTTTTTTGCAGATTATGAA
ATTCCAAACCTCCAGAAGGAAAAAATTACACGAATCGAGATCTGGGTTATGCATGAAATTGGGGGACCCAATGTGGAATCCTGCGGGGAAGGCAGCATGAAAGTC
CTGGAAAAGAGGCTGAAGGACATGGGGTTCCAGTACAGCTGTATTAATGATTACCGACCAGTGAAGCTCTTACAGTGCGTGGACCACAGCACCCATCCTGACTGT
GCCTTAAAGTCGGCAGCAGCCGCTACTCAAAGAAAAGCCCCAAGTCTTTATACAGAACAAAGGGCGGGTCTTATCATTCCCCTCTTTCTGGTGCTGGCTTCCAGG
ACTCAACTGTAA

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>BST1|683|protein
MAAQGCAASRLLQLLLQLLLLLLLLAAGGARARWRGEGTSAHLRDIFLGRCAEYRALLSPEQRNKNCTAIWEAFKVALDKDPCSVLPSDYDLFINLSRHSIPRDK
SLFWENSHLLVNSFADNTRRFMPLSDVLYGRVADFLSWCRQKNDSGLDYQSCPTSEDCENNPVDSFWKRASIQYSKDSSGVIHVMLNGSEPTGAYPIKGFFADYE
IPNLQKEKITRIEIWVMHEIGGPNVESCGEGSMKVLEKRLKDMGFQYSCINDYRPVKLLQCVDHSTHPDCALKSAAAATQRKAPSLYTEQRAGLIIPLFLVLASR
TQL

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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) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 5 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top