Evidence Details for ADSL
Basic Information Top
| Gene Symbol: | ADSL ( AMPS,ASASE,ASL ) |
|---|---|
| Gene Full Name: | adenylosuccinate lyase |
| Band: | 22q13.1 |
| Quick Links | Entrez ID:158; OMIM: 608222; Uniprot ID:PUR8_HUMAN; ENSEMBL ID: ENSG00000100354,ENSG00000239900; HGNC ID: 291 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ADSL|158|nucleotide
ATGGCGGCTGGAGGCGATCATGGTTCGCCCGACAGCTACCGCTCACCTCTTGCCTCCCGCTATGCCAGCCCGGAGATGTGCTTCGTGTTTAGCGACAGGTATAAA
TTCCGGACATGGCGGCAGCTGTGGCTGTGGCTGGCGGAGGCCGAGCAGACATTGGGTTTGCCTATCACAGATGAACAAATCCAGGAGATGAAATCAAACCTGGAG
AACATCGACTTCAAGATGGCAGCTGAGGAAGAGAAACGTTTACGACATGATGTGATGGCTCACGTGCACACATTTGGCCACTGCTGTCCAAAAGCTGCAGGCATT
ATTCACCTTGGTGCTACTTCTTGCTATGTTGGAGACAATACTGACTTGATTATTCTTAGAAATGCACTTGACCTGCTTTTGCCAAAGCTTGCCAGAGTGATCTCT
CGGCTTGCCGACTTTGCTAAGGAACGAGCCAGTCTACCCACATTAGGTTTCACACATTTCCAGCCTGCACAGCTGACCACAGTTGGGAAACGTTGCTGTCTTTGG
ATTCAGGATCTTTGCATGGATCTCCAGAACTTGAAGCGTGTCCGAGATGACCTGCGCTTCCGGGGAGTAAAGGGTACCACTGGCACTCAGGCCAGTTTCCTGCAG
CTCTTTGAGGGAGATGACCATAAGGTAGAGCAGCTTGACAAGATGGTGACAGAAAAGGCAGGATTTAAGAGAGCTTTCATCATCACAGGGCAGACATATACACGA
AAAGTGGATATTGAAGTACTGTCTGTGCTGGCTAGCTTGGGGGCATCAGTGCACAAGATTTGCACCGACATACGCCTCCTGGCAAACCTCAAGGAGATGGAGGAA
CCCTTTGAAAAACAGCAGATTGGCTCAAGTGCGATGCCATATAAGCGGAATCCCATGCGTTCAGAACGTTGCTGCAGTCTTGCCCGCCACCTGATGACCCTTGTC
ATGGACCCGCTACAGACAGCATCTGTCCAGTGGTTTGAACGCACACTGGATGATAGTGCCAACCGACGGATCTGTTTGGCCGAGGCATTTCTTACCGCAGATACT
ATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATC
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ATGGCGGCTGGAGGCGATCATGGTTCGCCCGACAGCTACCGCTCACCTCTTGCCTCCCGCTATGCCAGCCCGGAGATGTGCTTCGTGTTTAGCGACAGGTATAAA
TTCCGGACATGGCGGCAGCTGTGGCTGTGGCTGGCGGAGGCCGAGCAGACATTGGGTTTGCCTATCACAGATGAACAAATCCAGGAGATGAAATCAAACCTGGAG
AACATCGACTTCAAGATGGCAGCTGAGGAAGAGAAACGTTTACGACATGATGTGATGGCTCACGTGCACACATTTGGCCACTGCTGTCCAAAAGCTGCAGGCATT
ATTCACCTTGGTGCTACTTCTTGCTATGTTGGAGACAATACTGACTTGATTATTCTTAGAAATGCACTTGACCTGCTTTTGCCAAAGCTTGCCAGAGTGATCTCT
CGGCTTGCCGACTTTGCTAAGGAACGAGCCAGTCTACCCACATTAGGTTTCACACATTTCCAGCCTGCACAGCTGACCACAGTTGGGAAACGTTGCTGTCTTTGG
ATTCAGGATCTTTGCATGGATCTCCAGAACTTGAAGCGTGTCCGAGATGACCTGCGCTTCCGGGGAGTAAAGGGTACCACTGGCACTCAGGCCAGTTTCCTGCAG
CTCTTTGAGGGAGATGACCATAAGGTAGAGCAGCTTGACAAGATGGTGACAGAAAAGGCAGGATTTAAGAGAGCTTTCATCATCACAGGGCAGACATATACACGA
AAAGTGGATATTGAAGTACTGTCTGTGCTGGCTAGCTTGGGGGCATCAGTGCACAAGATTTGCACCGACATACGCCTCCTGGCAAACCTCAAGGAGATGGAGGAA
CCCTTTGAAAAACAGCAGATTGGCTCAAGTGCGATGCCATATAAGCGGAATCCCATGCGTTCAGAACGTTGCTGCAGTCTTGCCCGCCACCTGATGACCCTTGTC
ATGGACCCGCTACAGACAGCATCTGTCCAGTGGTTTGAACGCACACTGGATGATAGTGCCAACCGACGGATCTGTTTGGCCGAGGCATTTCTTACCGCAGATACT
ATATTGAATACGCTGCAGAACATTTCTGAAGGATTGGTCGTGTACCCCAAAGTAATTGAACGGCGCATTCGGCAAGAGCTGCCTTTCATGGCCACAGAGAACATC
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>ADSL|158|protein
MAAGGDHGSPDSYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEEEKRLRHDVMAHVHTFGHCCPKAAGI
IHLGATSCYVGDNTDLIILRNALDLLLPKLARVISRLADFAKERASLPTLGFTHFQPAQLTTVGKRCCLWIQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQ
LFEGDDHKVEQLDKMVTEKAGFKRAFIITGQTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLV
MDPLQTASVQWFERTLDDSANRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAMVKAGGSRQDCHEKIRVLSQQAASVVKQEGGD
NDLIERIQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEEVYPLLKPYESVMKVKAELCL
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MAAGGDHGSPDSYRSPLASRYASPEMCFVFSDRYKFRTWRQLWLWLAEAEQTLGLPITDEQIQEMKSNLENIDFKMAAEEEKRLRHDVMAHVHTFGHCCPKAAGI
IHLGATSCYVGDNTDLIILRNALDLLLPKLARVISRLADFAKERASLPTLGFTHFQPAQLTTVGKRCCLWIQDLCMDLQNLKRVRDDLRFRGVKGTTGTQASFLQ
LFEGDDHKVEQLDKMVTEKAGFKRAFIITGQTYTRKVDIEVLSVLASLGASVHKICTDIRLLANLKEMEEPFEKQQIGSSAMPYKRNPMRSERCCSLARHLMTLV
MDPLQTASVQWFERTLDDSANRRICLAEAFLTADTILNTLQNISEGLVVYPKVIERRIRQELPFMATENIIMAMVKAGGSRQDCHEKIRVLSQQAASVVKQEGGD
NDLIERIQVDAYFSPIHSQLDHLLDPSSFTGRASQQVQRFLEEEVYPLLKPYESVMKVKAELCL
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Evidence summary TopClick 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) | Yes | 0 (0) | 1 (4) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (2) | 12 (6) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | AR |
|---|---|
| OMIM | Adenylosuccinase deficiency (103050) |
| Description | Adenylosuccinate lyase deficiency; ~50% present autism/autistic features |
| Reference(s) | 6150139; 16839792; 11392513; 12833398; 21625931; |
| Level | Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder. |
Genome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Prasad, 2000 | - | FISH |  | | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
| Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
Linkage Studies Top