AutismKB 2.0

Evidence Details for APOH


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Basic Information Top
Gene Symbol:APOH ( B2G1,BG )
Gene Full Name: apolipoprotein H (beta-2-glycoprotein I)
Band: 17q24.2
Quick LinksEntrez ID:350; OMIM: 138700; Uniprot ID:APOH_HUMAN; ENSEMBL ID: ENSG00000091583; HGNC ID: 616
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>APOH|350|nucleotide
ATGATTTCTCCAGTGCTCATCTTGTTCTCGAGTTTTCTCTGCCATGTTGCTATTGCAGGACGGACCTGTCCCAAGCCAGATGATTTACCATTTTCCACAGTGGTC
CCGTTAAAAACATTCTATGAGCCAGGAGAAGAGATTACGTATTCCTGCAAGCCGGGCTATGTGTCCCGAGGAGGGATGAGAAAGTTTATCTGCCCTCTCACAGGA
CTGTGGCCCATCAACACTCTGAAATGTACACCCAGAGTATGTCCTTTTGCTGGAATCTTAGAAAATGGAGCCGTACGCTATACGACTTTTGAATATCCCAACACG
ATCAGTTTTTCTTGTAACACTGGGTTTTATCTGAATGGCGCTGATTCTGCCAAGTGCACTGAGGAAGGAAAATGGAGCCCGGAGCTTCCTGTCTGTGCTCCCATC
ATCTGCCCTCCACCATCCATACCTACGTTTGCAACACTTCGTGTTTATAAGCCATCAGCTGGAAACAATTCCCTCTATCGGGACACAGCAGTTTTTGAATGTTTG
CCACAACATGCGATGTTTGGAAATGATACAATTACCTGCACGACACATGGAAATTGGACTAAATTACCAGAATGCAGGGAAGTAAAATGCCCATTCCCATCAAGA
CCAGACAATGGATTTGTGAACTATCCTGCAAAACCAACACTTTATTACAAGGATAAAGCCACATTTGGCTGCCATGATGGATATTCTCTGGATGGCCCGGAAGAA
ATAGAATGTACCAAACTGGGAAACTGGTCTGCCATGCCAAGTTGTAAAGCATCTTGTAAAGTACCTGTGAAAAAAGCCACTGTGGTGTACCAAGGAGAGAGAGTA
AAGATTCAGGAAAAATTTAAGAATGGAATGCTACATGGTGATAAAGTTTCTTTCTTCTGCAAAAATAAGGAAAAGAAGTGTAGCTATACAGAGGATGCTCAGTGT
ATAGATGGCACTATCGAAGTCCCCAAATGCTTCAAGGAACACAGTTCTCTGGCTTTTTGGAAAACTGATGCATCCGATGTAAAGCCATGCTAA

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>APOH|350|protein
MISPVLILFSSFLCHVAIAGRTCPKPDDLPFSTVVPLKTFYEPGEEITYSCKPGYVSRGGMRKFICPLTGLWPINTLKCTPRVCPFAGILENGAVRYTTFEYPNT
ISFSCNTGFYLNGADSAKCTEEGKWSPELPVCAPIICPPPSIPTFATLRVYKPSAGNNSLYRDTAVFECLPQHAMFGNDTITCTTHGNWTKLPECREVKCPFPSR
PDNGFVNYPAKPTLYYKDKATFGCHDGYSLDGPEEIECTKLGNWSAMPSCKASCKVPVKKATVVYQGERVKIQEKFKNGMLHGDKVSFFCKNKEKKCSYTEDAQC
IDGTIEVPKCFKEHSSLAFWKTDASDVKPC

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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) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (2)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top