Evidence Details for ACY3
Basic Information Top
Gene Symbol: | ACY3 ( ACY-3,HCBP1,MGC9740 ) |
---|---|
Gene Full Name: | aspartoacylase (aminocyclase) 3 |
Band: | 11q13.2 |
Quick Links | Entrez ID:91703; OMIM: NA; Uniprot ID:ACY3_HUMAN; ENSEMBL ID: ENSG00000132744; HGNC ID: 24104 |
Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top
>ACY3|91703|nucleotide
ATGTGCTCACTGCCTGTGCCCCGGGAGCCCCTGCGTCGCGTGGCTGTGACTGGGGGCACGCATGGCAACGAGATGTCGGGCGTCTACCTGGCCCGGCACTGGCTG
CATGCCCCCGCAGAGCTGCAGAGAGCCAGCTTCTCCGCTGTGCCTGTGCTGGCCAACCCGGCAGCCACATCCGGCTGCCGCCGCTACGTGGACCATGACCTCAAC
CGCACCTTCACCAGCAGCTTCCTCAATTCCAGGCCCACCCCGGACGACCCATATGAGGTGACAAGAGCCCGAGAGCTGAACCAGCTGCTGGGGCCCAAGGCCTCG
GGCCAGGCCTTTGACTTTGTCCTTGACCTGCACAACACCACGGCCAACATGGGCACCTGCTTAATCGCGAAGTCCTCCCACGAAGTCTTTGCCATGCACCTGTGC
CGCCATCTGCAGCTGCAGTACCCCGAGCTGTCCTGCCAGGTCTTCCTGTACCAGCGGTCTGGGGAGGAGAGCTACAACCTGGACTCTGTGGCCAAAAATGGACTG
GGTCTGGAGCTGGGCCCCCAGCCACAGGGTGTGCTGCGGGCTGACATTTTCTCAAGGATGAGGACCCTGGTGGCCACAGTTCTGGACTTCATCGAACTCTTCAAC
CAGGGTACGGCCTTTCCTGCCTTTGAGATGGAAGCCTATAGACCCGTGGGCGTCGTGGACTTCCCCCGCACCGAGGCCGGGCACCTGGCAGGCACTGTGCATCCT
CAGCTGCAGGACCGAGACTTCCAGCCACTGCAGCCTGGTGCTCCCATCTTCCAGATGTTCAGTGGGGAGGACCTGCTCTATGAGGGAGAGTCCACGGTGTACCCC
GTGTTCATTAACGAGGCTGCCTACTATGAGAAGGGCGTTGCCTTTGTCCAGACTGAGAAGTTCACATTCACCGTGCCTGCCATGCCCGCGCTGACCCCTGCCCCG
AGCCCAGCTTCCTAA
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ATGTGCTCACTGCCTGTGCCCCGGGAGCCCCTGCGTCGCGTGGCTGTGACTGGGGGCACGCATGGCAACGAGATGTCGGGCGTCTACCTGGCCCGGCACTGGCTG
CATGCCCCCGCAGAGCTGCAGAGAGCCAGCTTCTCCGCTGTGCCTGTGCTGGCCAACCCGGCAGCCACATCCGGCTGCCGCCGCTACGTGGACCATGACCTCAAC
CGCACCTTCACCAGCAGCTTCCTCAATTCCAGGCCCACCCCGGACGACCCATATGAGGTGACAAGAGCCCGAGAGCTGAACCAGCTGCTGGGGCCCAAGGCCTCG
GGCCAGGCCTTTGACTTTGTCCTTGACCTGCACAACACCACGGCCAACATGGGCACCTGCTTAATCGCGAAGTCCTCCCACGAAGTCTTTGCCATGCACCTGTGC
CGCCATCTGCAGCTGCAGTACCCCGAGCTGTCCTGCCAGGTCTTCCTGTACCAGCGGTCTGGGGAGGAGAGCTACAACCTGGACTCTGTGGCCAAAAATGGACTG
GGTCTGGAGCTGGGCCCCCAGCCACAGGGTGTGCTGCGGGCTGACATTTTCTCAAGGATGAGGACCCTGGTGGCCACAGTTCTGGACTTCATCGAACTCTTCAAC
CAGGGTACGGCCTTTCCTGCCTTTGAGATGGAAGCCTATAGACCCGTGGGCGTCGTGGACTTCCCCCGCACCGAGGCCGGGCACCTGGCAGGCACTGTGCATCCT
CAGCTGCAGGACCGAGACTTCCAGCCACTGCAGCCTGGTGCTCCCATCTTCCAGATGTTCAGTGGGGAGGACCTGCTCTATGAGGGAGAGTCCACGGTGTACCCC
GTGTTCATTAACGAGGCTGCCTACTATGAGAAGGGCGTTGCCTTTGTCCAGACTGAGAAGTTCACATTCACCGTGCCTGCCATGCCCGCGCTGACCCCTGCCCCG
AGCCCAGCTTCCTAA
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>ACY3|91703|protein
MCSLPVPREPLRRVAVTGGTHGNEMSGVYLARHWLHAPAELQRASFSAVPVLANPAATSGCRRYVDHDLNRTFTSSFLNSRPTPDDPYEVTRARELNQLLGPKAS
GQAFDFVLDLHNTTANMGTCLIAKSSHEVFAMHLCRHLQLQYPELSCQVFLYQRSGEESYNLDSVAKNGLGLELGPQPQGVLRADIFSRMRTLVATVLDFIELFN
QGTAFPAFEMEAYRPVGVVDFPRTEAGHLAGTVHPQLQDRDFQPLQPGAPIFQMFSGEDLLYEGESTVYPVFINEAAYYEKGVAFVQTEKFTFTVPAMPALTPAP
SPAS
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MCSLPVPREPLRRVAVTGGTHGNEMSGVYLARHWLHAPAELQRASFSAVPVLANPAATSGCRRYVDHDLNRTFTSSFLNSRPTPDDPYEVTRARELNQLLGPKAS
GQAFDFVLDLHNTTANMGTCLIAKSSHEVFAMHLCRHLQLQYPELSCQVFLYQRSGEESYNLDSVAKNGLGLELGPQPQGVLRADIFSRMRTLVATVLDFIELFN
QGTAFPAFEMEAYRPVGVVDFPRTEAGHLAGTVHPQLQDRDFQPLQPGAPIFQMFSGEDLLYEGESTVYPVFINEAAYYEKGVAFVQTEKFTFTVPAMPALTPAP
SPAS
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Evidence summary Top
Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (3) | 0 (0) | 0 (0) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (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 | ||||||
Pinto, 2010 | - | SNP microarray, qPCR | ASD | - | - | - | - | 996 | 1287 | 2283 | ||
Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Ghahramani Seno, 2010_1 | Unknown | lymphoblastoid cell-line | 20 (35.00%) | - | AD | 22 (13.64%) |
-1.56 | Down | 0.058 | |||
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Proteomics Studies:0
Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
---|---|---|---|---|---|---|---|---|---|
No Evidence. |
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top
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