Evidence Details for ADPRHL1
Basic Information Top
Gene Symbol: | ADPRHL1 ( ARH2 ) |
---|---|
Gene Full Name: | ADP-ribosylhydrolase like 1 |
Band: | 13q34 |
Quick Links | Entrez 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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ATGGAGAAATTTAAGGCTGCGATGTTGCTGGGGAGCGTCGGCGATGCTCTTGGCTACAGAAATGTCTGCAAGGAGAACAGCACTGTAGGCATGAAGATCCAGGAG
GAGCTGCAACGTTCCGGGGGCCTGGACCACCTCGTACTCTCGCCAGGAGAATGGCCCGTGAGTGACAACACCATCATGCACATCGCAACCGCCGAGGCCCTCACC
ACAGACTACTGGTGCCTGGATGATCTGTACCGGGAGATGGTGAGATGCTATGTGGAAATCGTTGAGAAGCTTCCAGAACGCCGGCCAGACCCAGCTACCATTGAA
GGCTGTGCTCAGCTAAAGCCCAATAACTACCTTCTCGCCTGGCACACACCGTTCAATGAAAAAGGCTCAGGGTTTGGAGCGGCCACCAAGGCCATGTGCATCGGC
CTGCGGTACTGGAAGCCTGAGCGGCTGGAGACCCTCATCGAGGTCAGCGTGGAGTGCGGCCGGATGACCCACAACCATCCCACAGGCTTCCTGGGCTCCCTGTGC
ACGGCCCTGTTTGTGTCGTTCGCCGCACAAGGAAAGCCCCTGGTCCAGTGGGGGAGAGACATGCTGCGGGCGGTGCCTCTGGCAGAAGAGTACTGCAGGAAGACC
ATCCGGCACACGGCAGAATACCAGGAGCACTGGTTTTACTTTGAAGCTAAATGGCAATTTTATTTGGAGGAGAGGAAAATCAGTAAAGACTCAGAAAATAAAGCC
ATCTTCCCCGACAATTATGATGCAGAAGAGAGGGAAAAGACCTACAGGAAGTGGAGCTCGGAAGGTCGAGGGGGAAGACGAGGCCACGATGCCCCCATGATAGCC
TATGACGCCCTCCTTGCAGCAGGAAACAGCTGGACTGAGCTGTGTCACCGGGCCATGTTTCATGGAGGGGAGAGCGCGGCCACGGGCACCATTGCAGGCTGCCTG
TTCGGGTTGCTGTACGGCCTGGACCTCGTTCCCAAAGGCTTGTACCAGGACCTGGAGGACAAGGAGAAGCTGGAGGACCTGGGCGCGGCTCTCTACCGCCTGTCC
ACAGAGGAGAAGTAA
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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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 2
Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Voineagu, 2011_1 | Unknown | 16 frontal cortex(BA9) and 13 temporal cortex(BA41 | 16 (25.00%) | - | autism | 16 (6.25%) |
0.763948 | Down | - | |||
Voineagu, 2011_2 | Unknown | frontal, BA44/45 | 10 (0.00%) | - | autism | 6 (0.00%) |
0.738163 | Down | 0.0234804 |
Proteomics Studies:0
Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |
NGS de novo Mutation Studies Top
Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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