Evidence Details for TAOK3


Gene Symbol: | TAOK3 ( DKFZp666H245,DPK,FLJ31808,JIK,MAP3K18 ) |
---|---|
Gene Full Name: | TAO kinase 3 |
Band: | 12q |
Quick Links | Entrez ID:51347; OMIM: NA; Uniprot ID:TAOK3_HUMAN; ENSEMBL ID: ENSG00000135090; HGNC ID: 18133 |
Relate to Another Database: | SFARIGene; denovo-db |


>TAOK3|51347|nucleotide
ATGCGTAAAGGGGTGCTGAAGGACCCAGAGATTGCCGATCTATTCTACAAAGATGATCCTGAGGAACTTTTTATTGGTTTGCATGAAATTGGACATGGAAGTTTT
GGAGCAGTTTATTTTGCTACAAATGCTCACACCAGTGAGGTGGTGGCAATTAAGAAGATGTCCTATAGTGGGAAGCAGACCCATGAGAAATGGCAAGATATTCTT
AAGGAAGTTAAATTTTTACGACAATTGAAGCATCCTAATACTATTGAGTACAAAGGCTGTTACTTGAAAGAACACACTGCTTGGTTGGTGATGGAATATTGCTTA
GGCTCAGCCTCTGATTTATTAGAAGTTCATAAAAAACCACTTCAGGAAGTGGAGATCGCTGCCATTACTCATGGAGCCTTGCATGGACTAGCCTACCTACATTCT
CATGCATTGATTCATAGGGATATTAAAGCAGGAAATATTCTTCTAACAGAGCCAGGTCAGGTAAAACTAGCTGATTTTGGATCTGCTTCAATGGCTTCTCCTGCC
AACTCCTTCGTGGGCACACCTTACTGGATGGCTCCAGAGGTGATCTTAGCTATGGATGAAGGACAGTATGATGGGAAAGTTGATATTTGGTCACTTGGCATCACT
TGTATTGAATTGGCGGAACGGAAGCCGCCCCTTTTCAACATGAATGCAATGAGTGCCTTATATCACATTGCCCAGAATGACTCCCCAACGTTACAGTCTAATGAA
TGGACAGACTCCTTTAGGAGATTTGTTGATTACTGCTTGCAGAAAATACCTCAGGAAAGGCCAACATCAGCAGAACTATTAAGGCATGACTTTGTTCGACGAGAC
CGGCCACTACGTGTCCTCATTGACCTCATACAGAGGACAAAAGATGCAGTTCGTGAGCTAGATAACCTACAGTACCGAAAAATGAAAAAAATACTTTTCCAAGAG
ACACGGAATGGACCCTTGAATGAGTCACAGGAGGATGAGGAAGACAGTGAACATGGAACCAGCCTGAACAGGGAAATGGACAGCCTGGGCAGCAACCATTCCATT
CCAAGCATGTCCGTGAGCACAGGCAGCCAGAGCAGCAGTGTGAACAGCATGCAGGAAGTCATGGACGAGAGCAGTTCCGAACTTGTCATGATGCACGATGACGAA
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ATGCGTAAAGGGGTGCTGAAGGACCCAGAGATTGCCGATCTATTCTACAAAGATGATCCTGAGGAACTTTTTATTGGTTTGCATGAAATTGGACATGGAAGTTTT
GGAGCAGTTTATTTTGCTACAAATGCTCACACCAGTGAGGTGGTGGCAATTAAGAAGATGTCCTATAGTGGGAAGCAGACCCATGAGAAATGGCAAGATATTCTT
AAGGAAGTTAAATTTTTACGACAATTGAAGCATCCTAATACTATTGAGTACAAAGGCTGTTACTTGAAAGAACACACTGCTTGGTTGGTGATGGAATATTGCTTA
GGCTCAGCCTCTGATTTATTAGAAGTTCATAAAAAACCACTTCAGGAAGTGGAGATCGCTGCCATTACTCATGGAGCCTTGCATGGACTAGCCTACCTACATTCT
CATGCATTGATTCATAGGGATATTAAAGCAGGAAATATTCTTCTAACAGAGCCAGGTCAGGTAAAACTAGCTGATTTTGGATCTGCTTCAATGGCTTCTCCTGCC
AACTCCTTCGTGGGCACACCTTACTGGATGGCTCCAGAGGTGATCTTAGCTATGGATGAAGGACAGTATGATGGGAAAGTTGATATTTGGTCACTTGGCATCACT
TGTATTGAATTGGCGGAACGGAAGCCGCCCCTTTTCAACATGAATGCAATGAGTGCCTTATATCACATTGCCCAGAATGACTCCCCAACGTTACAGTCTAATGAA
TGGACAGACTCCTTTAGGAGATTTGTTGATTACTGCTTGCAGAAAATACCTCAGGAAAGGCCAACATCAGCAGAACTATTAAGGCATGACTTTGTTCGACGAGAC
CGGCCACTACGTGTCCTCATTGACCTCATACAGAGGACAAAAGATGCAGTTCGTGAGCTAGATAACCTACAGTACCGAAAAATGAAAAAAATACTTTTCCAAGAG
ACACGGAATGGACCCTTGAATGAGTCACAGGAGGATGAGGAAGACAGTGAACATGGAACCAGCCTGAACAGGGAAATGGACAGCCTGGGCAGCAACCATTCCATT
CCAAGCATGTCCGTGAGCACAGGCAGCCAGAGCAGCAGTGTGAACAGCATGCAGGAAGTCATGGACGAGAGCAGTTCCGAACTTGTCATGATGCACGATGACGAA
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>TAOK3|51347|protein
MRKGVLKDPEIADLFYKDDPEELFIGLHEIGHGSFGAVYFATNAHTSEVVAIKKMSYSGKQTHEKWQDILKEVKFLRQLKHPNTIEYKGCYLKEHTAWLVMEYCL
GSASDLLEVHKKPLQEVEIAAITHGALHGLAYLHSHALIHRDIKAGNILLTEPGQVKLADFGSASMASPANSFVGTPYWMAPEVILAMDEGQYDGKVDIWSLGIT
CIELAERKPPLFNMNAMSALYHIAQNDSPTLQSNEWTDSFRRFVDYCLQKIPQERPTSAELLRHDFVRRDRPLRVLIDLIQRTKDAVRELDNLQYRKMKKILFQE
TRNGPLNESQEDEEDSEHGTSLNREMDSLGSNHSIPSMSVSTGSQSSSVNSMQEVMDESSSELVMMHDDESTINSSSSVVHKKDHVFIRDEAGHGDPRPEPRPTQ
SVQSQALHYRNRERFATIKSASLVTRQIHEHEQENELREQMSGYKRMRRQHQKQLIALENKLKAEMDEHRLKLQKEVETHANNSSIELEKLAKKQVAIIEKEAKV
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MRKGVLKDPEIADLFYKDDPEELFIGLHEIGHGSFGAVYFATNAHTSEVVAIKKMSYSGKQTHEKWQDILKEVKFLRQLKHPNTIEYKGCYLKEHTAWLVMEYCL
GSASDLLEVHKKPLQEVEIAAITHGALHGLAYLHSHALIHRDIKAGNILLTEPGQVKLADFGSASMASPANSFVGTPYWMAPEVILAMDEGQYDGKVDIWSLGIT
CIELAERKPPLFNMNAMSALYHIAQNDSPTLQSNEWTDSFRRFVDYCLQKIPQERPTSAELLRHDFVRRDRPLRVLIDLIQRTKDAVRELDNLQYRKMKKILFQE
TRNGPLNESQEDEEDSEHGTSLNREMDSLGSNHSIPSMSVSTGSQSSSVNSMQEVMDESSSELVMMHDDESTINSSSSVVHKKDHVFIRDEAGHGDPRPEPRPTQ
SVQSQALHYRNRERFATIKSASLVTRQIHEHEQENELREQMSGYKRMRRQHQKQLIALENKLKAEMDEHRLKLQKEVETHANNSSIELEKLAKKQVAIIEKEAKV
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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) | 1 (4) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 4 (6) |






Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Szatmari, 2007 | Europe, North America | SNP microarray | ![]() | ![]() | ASD | 1491 | - | - | - | - | - | 0 |
Marshall, 2008 | - | SNP microarray | ![]() | ![]() | ASD | 427 | 238 | 189 | - | 427 | 500 | 927 |
Sanders, 2011 | Simons Simplex Collection | SNP microarray | - | - | ASD | 1127 | 1127 | - | - | - | - | - |
Asadollahi R, 2014 | - | CMA | - | - | NDDs | - | - | - | - | 714 | 2528 | 3242 |


Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | ![]() | ![]() | autism | - | - | - | - | 12 | 44 | 56 |






Reference | Case Number | Family Number | de novo Number | Title |
---|---|---|---|---|
Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |






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