Evidence Details for AP1S2
Basic Information Top
| Gene Symbol: | AP1S2 ( MGC:1902,MRX59,SIGMA1B ) |
|---|---|
| Gene Full Name: | adaptor-related protein complex 1, sigma 2 subunit |
| Band: | Xp22.2 |
| Quick Links | Entrez ID:8905; OMIM: 300629; Uniprot ID:AP1S2_HUMAN; ENSEMBL ID: ENSG00000182287; HGNC ID: 560 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>AP1S2|8905|nucleotide
ATGCAGTTTATGTTGCTTTTTAGTCGTCAGGGAAAGCTTCGACTGCAAAAATGGTATGTCCCACTATCAGACAAAGAGAAGAAAAAGATCACAAGAGAACTTGTT
CAGACCGTTTTAGCACGGAAACCTAAAATGTGCAGCTTCCTTGAGTGGCGAGATCTGAAGATTGTTTACAAAAGATATGCTAGTCTGTATTTTTGCTGTGCTATT
GAGGATCAGGACAATGAACTAATTACCCTGGAAATAATTCATCGTTATGTGGAATTACTTGACAAGTATTTCGGCAGTGTCTGTGAACTAGATATCATCTTTAAT
TTTGAGAAGGCTTATTTTATTTTGGATGAGTTTCTTTTGGGAGGGGAAGTTCAGGAAACATCCAAGAAAAATGTCCTTAAAGCAATTGAGCAGGCTGATCTACTG
CAGGAGGAAGCTGAAACCCCACGTAGTGTTCTTGAAGAAATTGGACTGACATAA
Show »
ATGCAGTTTATGTTGCTTTTTAGTCGTCAGGGAAAGCTTCGACTGCAAAAATGGTATGTCCCACTATCAGACAAAGAGAAGAAAAAGATCACAAGAGAACTTGTT
CAGACCGTTTTAGCACGGAAACCTAAAATGTGCAGCTTCCTTGAGTGGCGAGATCTGAAGATTGTTTACAAAAGATATGCTAGTCTGTATTTTTGCTGTGCTATT
GAGGATCAGGACAATGAACTAATTACCCTGGAAATAATTCATCGTTATGTGGAATTACTTGACAAGTATTTCGGCAGTGTCTGTGAACTAGATATCATCTTTAAT
TTTGAGAAGGCTTATTTTATTTTGGATGAGTTTCTTTTGGGAGGGGAAGTTCAGGAAACATCCAAGAAAAATGTCCTTAAAGCAATTGAGCAGGCTGATCTACTG
CAGGAGGAAGCTGAAACCCCACGTAGTGTTCTTGAAGAAATTGGACTGACATAA
Show »
>AP1S2|8905|protein
MQFMLLFSRQGKLRLQKWYVPLSDKEKKKITRELVQTVLARKPKMCSFLEWRDLKIVYKRYASLYFCCAIEDQDNELITLEIIHRYVELLDKYFGSVCELDIIFN
FEKAYFILDEFLLGGEVQETSKKNVLKAIEQADLLQEEAETPRSVLEEIGLT
Show »
MQFMLLFSRQGKLRLQKWYVPLSDKEKKKITRELVQTVLARKPKMCSFLEWRDLKIVYKRYASLYFCCAIEDQDNELITLEIIHRYVELLDKYFGSVCELDIIFN
FEKAYFILDEFLLGGEVQETSKKNVLKAIEQADLLQEEAETPRSVLEEIGLT
Show »
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 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 2 (2) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | XL |
|---|---|
| OMIM | Mental retardation, X-linked 59 (300630) |
| Description | X-linked ID and autism syndrome characterized by hypotonia, speech delay, aggressive behavior, and brain calcifications |
| Reference(s) | 18428203; |
| Level | Level 2: The gene has been reported in a single family with 2-3 males with ASD/autistic features. Additional evidences are needed. |
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 | ||||||
| Vazna, 2010 | Czech | aCGH |  |  | ASD | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Honduras | aCGH | | | autism | - | - | - | - | 1 | - | 1 |
| Edens, 2011 | Austria | FISH, aCGH | | | autism | - | - | - | - | 1 | - | 1 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.