AutismKB 2.0

Evidence Details for ADPRHL1


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Basic Information Top
Gene Symbol:ADPRHL1 ( ARH2 )
Gene Full Name: ADP-ribosylhydrolase like 1
Band: 13q34
Quick LinksEntrez ID:113622; OMIM: 610620; Uniprot ID:ARHL1_HUMAN; ENSEMBL ID: ENSG00000153531; HGNC ID: 21303
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ADPRHL1|113622|nucleotide
ATGGAGAAATTTAAGGCTGCGATGTTGCTGGGGAGCGTCGGCGATGCTCTTGGCTACAGAAATGTCTGCAAGGAGAACAGCACTGTAGGCATGAAGATCCAGGAG
GAGCTGCAACGTTCCGGGGGCCTGGACCACCTCGTACTCTCGCCAGGAGAATGGCCCGTGAGTGACAACACCATCATGCACATCGCAACCGCCGAGGCCCTCACC
ACAGACTACTGGTGCCTGGATGATCTGTACCGGGAGATGGTGAGATGCTATGTGGAAATCGTTGAGAAGCTTCCAGAACGCCGGCCAGACCCAGCTACCATTGAA
GGCTGTGCTCAGCTAAAGCCCAATAACTACCTTCTCGCCTGGCACACACCGTTCAATGAAAAAGGCTCAGGGTTTGGAGCGGCCACCAAGGCCATGTGCATCGGC
CTGCGGTACTGGAAGCCTGAGCGGCTGGAGACCCTCATCGAGGTCAGCGTGGAGTGCGGCCGGATGACCCACAACCATCCCACAGGCTTCCTGGGCTCCCTGTGC
ACGGCCCTGTTTGTGTCGTTCGCCGCACAAGGAAAGCCCCTGGTCCAGTGGGGGAGAGACATGCTGCGGGCGGTGCCTCTGGCAGAAGAGTACTGCAGGAAGACC
ATCCGGCACACGGCAGAATACCAGGAGCACTGGTTTTACTTTGAAGCTAAATGGCAATTTTATTTGGAGGAGAGGAAAATCAGTAAAGACTCAGAAAATAAAGCC
ATCTTCCCCGACAATTATGATGCAGAAGAGAGGGAAAAGACCTACAGGAAGTGGAGCTCGGAAGGTCGAGGGGGAAGACGAGGCCACGATGCCCCCATGATAGCC
TATGACGCCCTCCTTGCAGCAGGAAACAGCTGGACTGAGCTGTGTCACCGGGCCATGTTTCATGGAGGGGAGAGCGCGGCCACGGGCACCATTGCAGGCTGCCTG
TTCGGGTTGCTGTACGGCCTGGACCTCGTTCCCAAAGGCTTGTACCAGGACCTGGAGGACAAGGAGAAGCTGGAGGACCTGGGCGCGGCTCTCTACCGCCTGTCC
ACAGAGGAGAAGTAA
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>ADPRHL1|113622|protein
MEKFKAAMLLGSVGDALGYRNVCKENSTVGMKIQEELQRSGGLDHLVLSPGEWPVSDNTIMHIATAEALTTDYWCLDDLYREMVRCYVEIVEKLPERRPDPATIE
GCAQLKPNNYLLAWHTPFNEKGSGFGAATKAMCIGLRYWKPERLETLIEVSVECGRMTHNHPTGFLGSLCTALFVSFAAQGKPLVQWGRDMLRAVPLAEEYCRKT
IRHTAEYQEHWFYFEAKWQFYLEERKISKDSENKAIFPDNYDAEEREKTYRKWSSEGRGGRRGHDAPMIAYDALLAAGNSWTELCHRAMFHGGESAATGTIAGCL
FGLLYGLDLVPKGLYQDLEDKEKLEDLGAALYRLSTEEK

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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) 2 (2) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top