Evidence Details for ATRX
Basic Information Top
| Gene Symbol: | ATRX ( ATR2,MGC2094,MRXHF1,RAD54,RAD54L,SFM1,SHS,XH2,XNP,ZNF-HX ) |
|---|---|
| Gene Full Name: | alpha thalassemia/mental retardation syndrome X-linked |
| Band: | Xq21.1 |
| Quick Links | Entrez ID:546; OMIM: 300032; Uniprot ID:ATRX_HUMAN; ENSEMBL ID: ENSG00000085224; HGNC ID: 886 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>ATRX|546|nucleotide
ATGACCGCTGAGCCCATGAGTGAAAGCAAGTTGAATACATTGGTGCAGAAGCTTCATGACTTCCTTGCACACTCATCAGAAGAATCTGAAGAAACAAGTTCTCCT
CCACGACTTGCAATGAATCAAAACACAGATAAAATCAGTGGTTCTGGAAGTAACTCTGATATGATGGAAAACAGCAAGGAAGAGGGAACTAGCTCTTCAGAAAAA
TCCAAGTCTTCAGGATCGTCACGATCAAAGAGGAAACCTTCAATTGTAACAAAGTATGTAGAATCAGATGATGAAAAACCTTTGGATGATGAAACTGTAAATGAA
GATGCGTCTAATGAAAATTCAGAAAATGATATTACTATGCAGAGCTTGCCAAAAGGTACAGTGATTGTACAGCCAGAGCCAGTGCTGAATGAAGACAAAGATGAT
TTTAAAGGGCCTGAATTTAGAAGCAGAAGTAAAATGAAAACTGAAAATCTCAAAAAACGCGGAGAAGATGGGCTTCATGGGATTGTGAGCTGCACTGCTTGTGGA
CAACAGGTCAATCATTTTCAAAAAGATTCCATTTATAGACACCCTTCATTGCAAGTTCTTATTTGTAAGAATTGCTTTAAGTATTACATGAGTGATGATATTAGC
CGTGACTCAGATGGAATGGATGAACAATGTAGGTGGTGTGCGGAAGGTGGAAACTTGATTTGTTGTGACTTTTGCCATAATGCTTTCTGCAAGAAATGCATTCTA
CGCAACCTTGGTCGAAAGGAGTTGTCCACAATAATGGATGAAAACAACCAATGGTATTGCTACATTTGTCACCCAGAGCCTTTGTTGGACTTGGTCACTGCATGT
AACAGCGTATTTGAGAATTTAGAACAGTTGTTGCAGCAAAATAAGAAGAAGATAAAAGTTGACAGTGAAAAGAGTAATAAAGTATATGAACATACATCCAGATTT
TCTCCAAAGAAGACTAGTTCAAATTGTAATGGAGAAGAAAAGAAATTAGATGATTCCTGTTCTGGCTCTGTAACCTACTCTTATTCCGCACTAATTGTGCCCAAA
GAGATGATTAAGAAGGCAAAAAAACTGATTGAGACCACAGCCAACATGAACTCCAGTTATGTTAAATTTTTAAAGCAGGCAACAGATAATTCAGAAATCAGTTCT
Show »
ATGACCGCTGAGCCCATGAGTGAAAGCAAGTTGAATACATTGGTGCAGAAGCTTCATGACTTCCTTGCACACTCATCAGAAGAATCTGAAGAAACAAGTTCTCCT
CCACGACTTGCAATGAATCAAAACACAGATAAAATCAGTGGTTCTGGAAGTAACTCTGATATGATGGAAAACAGCAAGGAAGAGGGAACTAGCTCTTCAGAAAAA
TCCAAGTCTTCAGGATCGTCACGATCAAAGAGGAAACCTTCAATTGTAACAAAGTATGTAGAATCAGATGATGAAAAACCTTTGGATGATGAAACTGTAAATGAA
GATGCGTCTAATGAAAATTCAGAAAATGATATTACTATGCAGAGCTTGCCAAAAGGTACAGTGATTGTACAGCCAGAGCCAGTGCTGAATGAAGACAAAGATGAT
TTTAAAGGGCCTGAATTTAGAAGCAGAAGTAAAATGAAAACTGAAAATCTCAAAAAACGCGGAGAAGATGGGCTTCATGGGATTGTGAGCTGCACTGCTTGTGGA
CAACAGGTCAATCATTTTCAAAAAGATTCCATTTATAGACACCCTTCATTGCAAGTTCTTATTTGTAAGAATTGCTTTAAGTATTACATGAGTGATGATATTAGC
CGTGACTCAGATGGAATGGATGAACAATGTAGGTGGTGTGCGGAAGGTGGAAACTTGATTTGTTGTGACTTTTGCCATAATGCTTTCTGCAAGAAATGCATTCTA
CGCAACCTTGGTCGAAAGGAGTTGTCCACAATAATGGATGAAAACAACCAATGGTATTGCTACATTTGTCACCCAGAGCCTTTGTTGGACTTGGTCACTGCATGT
AACAGCGTATTTGAGAATTTAGAACAGTTGTTGCAGCAAAATAAGAAGAAGATAAAAGTTGACAGTGAAAAGAGTAATAAAGTATATGAACATACATCCAGATTT
TCTCCAAAGAAGACTAGTTCAAATTGTAATGGAGAAGAAAAGAAATTAGATGATTCCTGTTCTGGCTCTGTAACCTACTCTTATTCCGCACTAATTGTGCCCAAA
GAGATGATTAAGAAGGCAAAAAAACTGATTGAGACCACAGCCAACATGAACTCCAGTTATGTTAAATTTTTAAAGCAGGCAACAGATAATTCAGAAATCAGTTCT
Show »
>ATRX|546|protein
MTAEPMSESKLNTLVQKLHDFLAHSSEESEETSSPPRLAMNQNTDKISGSGSNSDMMENSKEEGTSSSEKSKSSGSSRSKRKPSIVTKYVESDDEKPLDDETVNE
DASNENSENDITMQSLPKGTVIVQPEPVLNEDKDDFKGPEFRSRSKMKTENLKKRGEDGLHGIVSCTACGQQVNHFQKDSIYRHPSLQVLICKNCFKYYMSDDIS
RDSDGMDEQCRWCAEGGNLICCDFCHNAFCKKCILRNLGRKELSTIMDENNQWYCYICHPEPLLDLVTACNSVFENLEQLLQQNKKKIKVDSEKSNKVYEHTSRF
SPKKTSSNCNGEEKKLDDSCSGSVTYSYSALIVPKEMIKKAKKLIETTANMNSSYVKFLKQATDNSEISSATKLRQLKAFKSVLADIKKAHLALEEDLNSEFRAM
DAVNKEKNTKEHKVIDAKFETKARKGEKPCALEKKDISKSEAKLSRKQVDSEHMHQNVPTEEQRTNKSTGGEHKKSDRKEEPQYEPANTSEDLDMDIVSVPSSVP
Show »
MTAEPMSESKLNTLVQKLHDFLAHSSEESEETSSPPRLAMNQNTDKISGSGSNSDMMENSKEEGTSSSEKSKSSGSSRSKRKPSIVTKYVESDDEKPLDDETVNE
DASNENSENDITMQSLPKGTVIVQPEPVLNEDKDDFKGPEFRSRSKMKTENLKKRGEDGLHGIVSCTACGQQVNHFQKDSIYRHPSLQVLICKNCFKYYMSDDIS
RDSDGMDEQCRWCAEGGNLICCDFCHNAFCKKCILRNLGRKELSTIMDENNQWYCYICHPEPLLDLVTACNSVFENLEQLLQQNKKKIKVDSEKSNKVYEHTSRF
SPKKTSSNCNGEEKKLDDSCSGSVTYSYSALIVPKEMIKKAKKLIETTANMNSSYVKFLKQATDNSEISSATKLRQLKAFKSVLADIKKAHLALEEDLNSEFRAM
DAVNKEKNTKEHKVIDAKFETKARKGEKPCALEKKDISKSEAKLSRKQVDSEHMHQNVPTEEQRTNKSTGGEHKKSDRKEEPQYEPANTSEDLDMDIVSVPSSVP
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) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (1) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | XL |
|---|---|
| OMIM | Alpha-thalassemia/mental retardation syndrome (301040) |
| Description | Large spectrum of phenotypes including ATRX syndrome (alpha thalassemia/mental retardation syndrome X-linked) and non-syndromic X-linked ID |
| Reference(s) | 16722615; 20500465; -; |
| 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 TopLinkage 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| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Brett M, 2014 | - | Illumina HiSeq2000 | - | - | autism | - | - | - | 8 | Sanger sequencing |
| Deciphering Developmental Disorders Study., 2015 | - | - | - | - | ASD | - | - | - | 14 | - |
| Li J, 2017 | China | - |  | | - | 32 | - | - | - | Sanger sequencing |
| Li J, 2017 | China | Illumina Hiseq2000 | | | - | 504 | - | - | 504 | - |
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.