AutismKB 2.0

Evidence Details for OSBP2


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Basic Information Top
Gene Symbol:OSBP2 ( ORP-4,ORP4,OSBPL1,OSBPL4 )
Gene Full Name: oxysterol binding protein 2
Band: 22q12.2
Quick LinksEntrez ID:23762; OMIM: 606729; Uniprot ID:OSBP2_HUMAN; ENSEMBL ID: ENSG00000184792; HGNC ID: 8504
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>OSBP2|23762|nucleotide
ATGGGGAAAGCGGCGGCTCCGAGCCGAGGCGGCGGCTGTGGCGGCCGCTCCCGCGGGCTCTCGTCGCTGTTCACGGTTGTCCCCTGCCTGTCGTGCCACACGGCG
GCGCCGGGCATGAGCGCTTCCACGTCCGGCTCCGGGCCGGAGCCCAAGCCCCAGCCCCAGCCCGTGCCCGAACCGGAGCGGGGACCGCTGTCAGAACAGGTGTCG
GAGGCAGTTTCGGAGGCAGTGCCAAGATCGGAACCTGTGTCCGAGACGACGTCTGAGCCGGAGCCAGGGGCTGGGCAGCCATCGGAACTGCTGCAGGGGTCGCGG
CCGGGGTCAGAGTCAAGCTCAGGTGTAGGGGCTGGGCCCTTCACTAAGGCCGCATCGGAGCCGCTCTCCCGGGCGGTGGGGAGCGCGACCTTTCTCAGACCCGAG
TCAGGATCGCTGCCAGCGTTAAAGCCCCTGCCTCTTCTGCGACCAGGACAGGCGAAGACTCCTCTTGGGGTTCCAATGTCGGGGACTGGCACGACCTCCAGTGCC
CCACTGGCCTTACTGCCTCTGGACAGCTTCGAGGGCTGGCTTCTCAAGTGGACCAACTATCTGAAGGGCTACCAGCGCCGCTGGTTCGTGCTGGGCAATGGTTTG
CTCTCTTACTACAGAAATCAGGGTGAAATGGCCCACACGTGCCGTGGAACCATCAACCTGTCCACCGCGCACATTGACACGGAGGACTCTTGTGGTATCTTGCTG
ACCAGTGGGGCCAGGAGCTACCACCTCAAGGCCAGCTCAGAGGTGGACCGGCAGCAGTGGATCACCGCCCTGGAGCTGGCCAAGGCCAAGGCTGTCCGCGTGATG
AACACTCATTCAGATGACTCTGGGGACGACGACGAGGCTACCACCCCAGCCGACAAGAGCGAGCTGCACCACACCCTGAAGAATCTTTCCCTGAAGTTAGATGAC
CTCAGCACGTGCAATGACCTCATCGCCAAGCACGGCGCTGCACTCCAGCGCTCCCTGACAGAGCTGGACGGCCTCAAGATCCCATCTGAGAGTGGGGAGAAGCTG
AAGGTGGTGAATGAGCGGGCCACCCTCTTCCGCATCACATCCAATGCTATGATCAACGCCTGCAGGGACTTCTTGGAACTAGCAGAGATACACAGTCGGAAATGG
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>OSBP2|23762|protein
MGKAAAPSRGGGCGGRSRGLSSLFTVVPCLSCHTAAPGMSASTSGSGPEPKPQPQPVPEPERGPLSEQVSEAVSEAVPRSEPVSETTSEPEPGAGQPSELLQGSR
PGSESSSGVGAGPFTKAASEPLSRAVGSATFLRPESGSLPALKPLPLLRPGQAKTPLGVPMSGTGTTSSAPLALLPLDSFEGWLLKWTNYLKGYQRRWFVLGNGL
LSYYRNQGEMAHTCRGTINLSTAHIDTEDSCGILLTSGARSYHLKASSEVDRQQWITALELAKAKAVRVMNTHSDDSGDDDEATTPADKSELHHTLKNLSLKLDD
LSTCNDLIAKHGAALQRSLTELDGLKIPSESGEKLKVVNERATLFRITSNAMINACRDFLELAEIHSRKWQRALQYEQEQRVHLEETIEQLAKQHNSLERAFHSA
PGRPANPSKSFIEGSLLTPKGEDSEEDEDTEYFDAMEDSTSFITVITEAKEDSRKAEGSTGTSSVDWSSADNVLDGASLVPKGSSKVKRRVRIPNKPNYSLNLWS
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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 (0) 0 (0) 0 (0) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 1 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top