Evidence Details for DYRK1A
Basic Information Top
| Gene Symbol: | DYRK1A ( DYRK,DYRK1,HP86,MNB,MNBH ) |
|---|---|
| Gene Full Name: | dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A |
| Band: | 21q22.13 |
| Quick Links | Entrez ID:1859; OMIM: 600855; Uniprot ID:DYR1A_HUMAN; ENSEMBL ID: ENSG00000157540; HGNC ID: 3091 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>DYRK1A|1859|nucleotide
ATGCATACAGGAGGAGAGACTTCAGCATGCAAACCTTCATCTGTTCGGCTTGCACCGTCATTTTCATTCCATGCTGCTGGCCTTCAGATGGCTGGACAGATGCCC
CATTCACATCAGTACAGTGACCGTCGCCAGCCAAACATAAGTGACCAACAGGTTTCTGCCTTATCATATTCTGACCAGATTCAGCAACCTCTAACTAACCAGGTG
ATGCCTGATATTGTCATGTTACAGAGGCGGATGCCCCAAACCTTCCGTGACCCAGCAACTGCTCCCCTGAGAAAACTTTCTGTTGACTTGATCAAAACATACAAG
CATATTAATGAGGTTTACTATGCAAAAAAGAAGCGAAGACACCAACAGGGCCAGGGAGACGATTCTAGTCATAAGAAGGAACGGAAGGTTTACAATGATGGTTAT
GATGATGATAACTATGATTATATTGTAAAAAACGGAGAAAAGTGGATGGATCGTTACGAAATTGACTCCTTGATAGGCAAAGGTTCCTTTGGACAGGTTGTAAAG
GCATATGATCGTGTGGAGCAAGAATGGGTTGCCATTAAAATAATAAAGAACAAGAAGGCTTTTCTGAATCAAGCACAGATAGAAGTGCGACTTCTTGAGCTCATG
AACAAACATGACACTGAAATGAAATACTACATAGTGCATTTGAAACGCCACTTTATGTTTCGAAACCATCTCTGTTTAGTTTTTGAAATGCTGTCCTACAACCTC
TATGACTTGCTGAGAAACACCAATTTCCGAGGGGTCTCTTTGAACCTAACACGAAAGTTTGCGCAACAGATGTGCACTGCACTGCTTTTCCTTGCGACTCCAGAA
CTTAGTATCATTCACTGTGATCTAAAACCTGAAAATATCCTTCTTTGTAACCCCAAACGCAGTGCAATCAAGATAGTTGACTTTGGCAGTTCTTGTCAGTTGGGG
CAGAGGATATACCAGTATATTCAGAGTCGCTTTTATCGGTCTCCAGAGGTGCTACTGGGAATGCCTTATGACCTTGCCATTGATATGTGGTCCCTCGGGTGTATT
TTGGTTGAAATGCACACTGGAGAACCTCTGTTCAGTGGTGCCAATGAGGTAGATCAGATGAATAAAATAGTGGAAGTTCTGGGTATTCCACCTGCTCATATTCTT
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ATGCATACAGGAGGAGAGACTTCAGCATGCAAACCTTCATCTGTTCGGCTTGCACCGTCATTTTCATTCCATGCTGCTGGCCTTCAGATGGCTGGACAGATGCCC
CATTCACATCAGTACAGTGACCGTCGCCAGCCAAACATAAGTGACCAACAGGTTTCTGCCTTATCATATTCTGACCAGATTCAGCAACCTCTAACTAACCAGGTG
ATGCCTGATATTGTCATGTTACAGAGGCGGATGCCCCAAACCTTCCGTGACCCAGCAACTGCTCCCCTGAGAAAACTTTCTGTTGACTTGATCAAAACATACAAG
CATATTAATGAGGTTTACTATGCAAAAAAGAAGCGAAGACACCAACAGGGCCAGGGAGACGATTCTAGTCATAAGAAGGAACGGAAGGTTTACAATGATGGTTAT
GATGATGATAACTATGATTATATTGTAAAAAACGGAGAAAAGTGGATGGATCGTTACGAAATTGACTCCTTGATAGGCAAAGGTTCCTTTGGACAGGTTGTAAAG
GCATATGATCGTGTGGAGCAAGAATGGGTTGCCATTAAAATAATAAAGAACAAGAAGGCTTTTCTGAATCAAGCACAGATAGAAGTGCGACTTCTTGAGCTCATG
AACAAACATGACACTGAAATGAAATACTACATAGTGCATTTGAAACGCCACTTTATGTTTCGAAACCATCTCTGTTTAGTTTTTGAAATGCTGTCCTACAACCTC
TATGACTTGCTGAGAAACACCAATTTCCGAGGGGTCTCTTTGAACCTAACACGAAAGTTTGCGCAACAGATGTGCACTGCACTGCTTTTCCTTGCGACTCCAGAA
CTTAGTATCATTCACTGTGATCTAAAACCTGAAAATATCCTTCTTTGTAACCCCAAACGCAGTGCAATCAAGATAGTTGACTTTGGCAGTTCTTGTCAGTTGGGG
CAGAGGATATACCAGTATATTCAGAGTCGCTTTTATCGGTCTCCAGAGGTGCTACTGGGAATGCCTTATGACCTTGCCATTGATATGTGGTCCCTCGGGTGTATT
TTGGTTGAAATGCACACTGGAGAACCTCTGTTCAGTGGTGCCAATGAGGTAGATCAGATGAATAAAATAGTGGAAGTTCTGGGTATTCCACCTGCTCATATTCTT
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>DYRK1A|1859|protein
MHTGGETSACKPSSVRLAPSFSFHAAGLQMAGQMPHSHQYSDRRQPNISDQQVSALSYSDQIQQPLTNQVMPDIVMLQRRMPQTFRDPATAPLRKLSVDLIKTYK
HINEVYYAKKKRRHQQGQGDDSSHKKERKVYNDGYDDDNYDYIVKNGEKWMDRYEIDSLIGKGSFGQVVKAYDRVEQEWVAIKIIKNKKAFLNQAQIEVRLLELM
NKHDTEMKYYIVHLKRHFMFRNHLCLVFEMLSYNLYDLLRNTNFRGVSLNLTRKFAQQMCTALLFLATPELSIIHCDLKPENILLCNPKRSAIKIVDFGSSCQLG
QRIYQYIQSRFYRSPEVLLGMPYDLAIDMWSLGCILVEMHTGEPLFSGANEVDQMNKIVEVLGIPPAHILDQAPKARKFFEKLPDGTWNLKKTKDGKREYKPPGT
RKLHNILGVETGGPGGRRAGESGHTVADYLKFKDLILRMLDYDPKTRIQPYYALQHSFFKKTADEGTNTSNSVSTSPAMEQSQSSGTTSSTSSSSGGSSGTSNSG
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MHTGGETSACKPSSVRLAPSFSFHAAGLQMAGQMPHSHQYSDRRQPNISDQQVSALSYSDQIQQPLTNQVMPDIVMLQRRMPQTFRDPATAPLRKLSVDLIKTYK
HINEVYYAKKKRRHQQGQGDDSSHKKERKVYNDGYDDDNYDYIVKNGEKWMDRYEIDSLIGKGSFGQVVKAYDRVEQEWVAIKIIKNKKAFLNQAQIEVRLLELM
NKHDTEMKYYIVHLKRHFMFRNHLCLVFEMLSYNLYDLLRNTNFRGVSLNLTRKFAQQMCTALLFLATPELSIIHCDLKPENILLCNPKRSAIKIVDFGSSCQLG
QRIYQYIQSRFYRSPEVLLGMPYDLAIDMWSLGCILVEMHTGEPLFSGANEVDQMNKIVEVLGIPPAHILDQAPKARKFFEKLPDGTWNLKKTKDGKREYKPPGT
RKLHNILGVETGGPGGRRAGESGHTVADYLKFKDLILRMLDYDPKTRIQPYYALQHSFFKKTADEGTNTSNSVSTSPAMEQSQSSGTTSSTSSSSGGSSGTSNSG
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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) | No | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 1 (10) | 0 (0) | 2 (3) | 2 (2) | 46 (15) |
Syndromic Autism Gene TopGenome-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 Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| O'Roak BJ, 2012 | 1703 | 209 | 242 | Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. |
| O'Roak BJ, 2012 | 2446 | - | 46 | Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. |
| Dong S, 2014 | 787 | 787 | 42 | De novo insertions and deletions of predominantly paternal origin are associated with autism spectru |
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
| Wang T, 2016 | 1543 | 1045 | 54 | De novo genic mutations among a Chinese autism spectrum disorder cohort |
| Stessman HA, 2017 | 6342 | - | 74 | Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and development |
| Li J, 2017 | 536 | - | 22 | Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in au |
| Fromer M, 2014 | - | - | 94 | De novo mutations in schizophrenia implicate synaptic networks. |
| Deciphering Developmental , 2015 | 15 | - | 15 | Large-scale discovery of novel genetic causes of developmental disorders. |
NGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| O'Roak BJ, 2012 | USA | Illumina HiSeq 2000 | - | - | ASD | - | - | - | 2446 | - |
| Wang T, 2016 | China | Illumina HiSeq 2000 |  | | ASD | 1045 | - | - | 1543 | PCR and Sanger sequencing |
| Dang T, 2018 | - | - | - | - | ASD | - | - | - | 892 | - |
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.