AutismKB 2.0

Evidence Details for APOBEC3H


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Basic Information Top
Gene Symbol:APOBEC3H ( ARP10 )
Gene Full Name: apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H
Band: 22q13.1
Quick LinksEntrez ID:164668; OMIM: 610976; Uniprot ID:ABC3H_HUMAN; ENSEMBL ID: ENSG00000100298; HGNC ID: 24100
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>APOBEC3H|164668|nucleotide
ATGGCTCTGTTAACAGCCGAAACATTCCGCTTACAGTTTAACAACAAGCGCCGCCTCAGAAGGCCTTACTACCCGAGGAAGGCCCTCTTGTGTTACCAGCTGACG
CCGCAGAATGGCTCCACGCCCACGAGAGGCTACTTTGAAAACAAGAAAAAGTGCCATGCAGAAATTTGCTTTATTAACGAGATCAAGTCCATGGGACTGGACGAA
ACGCAGTGCTACCAAGTCACCTGTTACCTCACGTGGAGCCCCTGCTCCTCCTGTGCCTGGGAGCTGGTTGACTTCATCAAGGCTCACGACCATCTGAACCTGGGC
ATCTTCGCCTCCCGCCTGTACTACCACTGGTGCAAGCCCCAGCAGAAGGGGCTGCGGCTTCTGTGTGGATCCCAGGTCCCGGTGGAGGTCATGGGCTTCCCAAAG
TTTGCTGACTGCTGGGAAAACTTTGTGGACCACGAGAAACCGCTTTCCTTCAACCCCTATAAGATGTTAGAGGAGCTAGATAAAAACAGTCGAGCCATAAAGCGA
CGGCTTGAGAGGATAAAGTCCTGA





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>APOBEC3H|164668|protein
MALLTAETFRLQFNNKRRLRRPYYPRKALLCYQLTPQNGSTPTRGYFENKKKCHAEICFINEIKSMGLDETQCYQVTCYLTWSPCSSCAWELVDFIKAHDHLNLG
IFASRLYYHWCKPQQKGLRLLCGSQVPVEVMGFPKFADCWENFVDHEKPLSFNPYKMLEELDKNSRAIKRRLERIKS



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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 (3) 0 (0) 0 (0) 0 (0) 0 (0) 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
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top