Evidence Details for TLK1
Basic Information Top
| Gene Symbol: | TLK1 ( KIAA0137,PKU-beta ) |
|---|---|
| Gene Full Name: | tousled-like kinase 1 |
| Band: | 2q31.1 |
| Quick Links | Entrez ID:9874; OMIM: 608438; Uniprot ID:TLK1_HUMAN; ENSEMBL ID: ENSG00000198586; HGNC ID: 11841 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>TLK1|9874|nucleotide
ATGGATGAGCTTCATAGTCTGGATCCAAGAAGGCAAGAGTTATTGGAAGCTAGATTTACTGGAGTTGCAAGTGGGAGCACTGGAAGTACGGGCAGTTGCAGTGTT
GGAGCTAAAGCCTCAACAAATAACGAAAGCTCTAATCACAGTTTTGGAAGCTTGGGATCTTTAAGTGACAAAGAATCAGAGACACCGGAGAAGAAACAATCGGAA
TCATCCAGGGGAAGAAAGAGAAAAGCAGAAAACCAGAATGAAAGTAGTCAGGGAAAAAGTATTGGGGGACGTGGCCACAAAATTAGCGACTATTTTGAATACCAG
GGTGGAAATGGCTCAAGTCCAGTAAGAGGCATACCTCCTGCAATCCGTTCTCCTCAAAATTCACATTCACATTCCACTCCTTCCTCATCTGTTCGACCGAATAGC
CCTTCTCCTACTGCATTAGCATTTGGGGACCACCCTATTGTACAACCAAAGCAATTATCCTTTAAAATTATTCAGACTGATCTCACAATGCTGAAATTAGCAGCA
TTAGAAAGTAATAAAATCCAGGACCTGGAAAAGAAGGAGGGACGTATAGATGATTTGCTCAGGGCTAACTGTGATCTCAGACGGCAAATAGATGAACAACAAAAA
TTACTTGAAAAATACAAAGAACGATTAAATAAGTGCATATCAATGAGCAAGAAACTTCTTATTGAAAAGAGTACACAAGAAAAGCTGTCAAGCAGAGAGAAGAGT
ATGCAAGATCGATTACGCCTCGGGCACTTTACAACAGTTAGACATGGCGCTTCATTTACTGAACAATGGACAGATGGTTTTGCATTTCAGAATCTTGTGAAGCAA
CAAGAATGGGTGAATCAGCAAAGGGAAGATATTGAAAGGCAAAGGAAACTTCTAGCCAAACGCAAACCTCCCACAGCTAATAATTCTCAGGCACCCTCTACCAAT
TCTGAACCAAAACAAAGGAAAAACAAAGCAGTCAATGGAGCAGAGAATGATCCCTTTGTTAGACCAAATTTACCACAACTGTTGACTTTGGCAGAATATCATGAA
CAGGAAGAAATTTTCAAACTTAGACTAGGACATCTCAAAAAGGAAGAGGCAGAAATCCAGGCAGAACTTGAACGTTTGGAAAGAGTCAGAAATCTTCACATACGT
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ATGGATGAGCTTCATAGTCTGGATCCAAGAAGGCAAGAGTTATTGGAAGCTAGATTTACTGGAGTTGCAAGTGGGAGCACTGGAAGTACGGGCAGTTGCAGTGTT
GGAGCTAAAGCCTCAACAAATAACGAAAGCTCTAATCACAGTTTTGGAAGCTTGGGATCTTTAAGTGACAAAGAATCAGAGACACCGGAGAAGAAACAATCGGAA
TCATCCAGGGGAAGAAAGAGAAAAGCAGAAAACCAGAATGAAAGTAGTCAGGGAAAAAGTATTGGGGGACGTGGCCACAAAATTAGCGACTATTTTGAATACCAG
GGTGGAAATGGCTCAAGTCCAGTAAGAGGCATACCTCCTGCAATCCGTTCTCCTCAAAATTCACATTCACATTCCACTCCTTCCTCATCTGTTCGACCGAATAGC
CCTTCTCCTACTGCATTAGCATTTGGGGACCACCCTATTGTACAACCAAAGCAATTATCCTTTAAAATTATTCAGACTGATCTCACAATGCTGAAATTAGCAGCA
TTAGAAAGTAATAAAATCCAGGACCTGGAAAAGAAGGAGGGACGTATAGATGATTTGCTCAGGGCTAACTGTGATCTCAGACGGCAAATAGATGAACAACAAAAA
TTACTTGAAAAATACAAAGAACGATTAAATAAGTGCATATCAATGAGCAAGAAACTTCTTATTGAAAAGAGTACACAAGAAAAGCTGTCAAGCAGAGAGAAGAGT
ATGCAAGATCGATTACGCCTCGGGCACTTTACAACAGTTAGACATGGCGCTTCATTTACTGAACAATGGACAGATGGTTTTGCATTTCAGAATCTTGTGAAGCAA
CAAGAATGGGTGAATCAGCAAAGGGAAGATATTGAAAGGCAAAGGAAACTTCTAGCCAAACGCAAACCTCCCACAGCTAATAATTCTCAGGCACCCTCTACCAAT
TCTGAACCAAAACAAAGGAAAAACAAAGCAGTCAATGGAGCAGAGAATGATCCCTTTGTTAGACCAAATTTACCACAACTGTTGACTTTGGCAGAATATCATGAA
CAGGAAGAAATTTTCAAACTTAGACTAGGACATCTCAAAAAGGAAGAGGCAGAAATCCAGGCAGAACTTGAACGTTTGGAAAGAGTCAGAAATCTTCACATACGT
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>TLK1|9874|protein
MDELHSLDPRRQELLEARFTGVASGSTGSTGSCSVGAKASTNNESSNHSFGSLGSLSDKESETPEKKQSESSRGRKRKAENQNESSQGKSIGGRGHKISDYFEYQ
GGNGSSPVRGIPPAIRSPQNSHSHSTPSSSVRPNSPSPTALAFGDHPIVQPKQLSFKIIQTDLTMLKLAALESNKIQDLEKKEGRIDDLLRANCDLRRQIDEQQK
LLEKYKERLNKCISMSKKLLIEKSTQEKLSSREKSMQDRLRLGHFTTVRHGASFTEQWTDGFAFQNLVKQQEWVNQQREDIERQRKLLAKRKPPTANNSQAPSTN
SEPKQRKNKAVNGAENDPFVRPNLPQLLTLAEYHEQEEIFKLRLGHLKKEEAEIQAELERLERVRNLHIRELKRINNEDNSQFKDHPTLNERYLLLHLLGRGGFS
EVYKAFDLYEQRYAAVKIHQLNKSWRDEKKENYHKHACREYRIHKELDHPRIVKLYDYFSLDTDTFCTVLEYCEGNDLDFYLKQHKLMSEKEARSIVMQIVNALR
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MDELHSLDPRRQELLEARFTGVASGSTGSTGSCSVGAKASTNNESSNHSFGSLGSLSDKESETPEKKQSESSRGRKRKAENQNESSQGKSIGGRGHKISDYFEYQ
GGNGSSPVRGIPPAIRSPQNSHSHSTPSSSVRPNSPSPTALAFGDHPIVQPKQLSFKIIQTDLTMLKLAALESNKIQDLEKKEGRIDDLLRANCDLRRQIDEQQK
LLEKYKERLNKCISMSKKLLIEKSTQEKLSSREKSMQDRLRLGHFTTVRHGASFTEQWTDGFAFQNLVKQQEWVNQQREDIERQRKLLAKRKPPTANNSQAPSTN
SEPKQRKNKAVNGAENDPFVRPNLPQLLTLAEYHEQEEIFKLRLGHLKKEEAEIQAELERLERVRNLHIRELKRINNEDNSQFKDHPTLNERYLLLHLLGRGGFS
EVYKAFDLYEQRYAAVKIHQLNKSWRDEKKENYHKHACREYRIHKELDHPRIVKLYDYFSLDTDTFCTVLEYCEGNDLDFYLKQHKLMSEKEARSIVMQIVNALR
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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 (1) | 2 (4) | 0 (0) | 1 (1) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 15 (7) |
Syndromic Autism Gene TopGenome-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 | ||||||
| Pinto, 2010 | - | SNP microarray, qPCR |  | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Monaco, 2001 | - | microsatellite-based genomic screen | | | PDD | 152 | - | 152 | - | - | - | - |
| Buxbaum, 2001 | USA | microsatellite-based genomic screen | |  | autism, PDD, Asperger syndrome | 35 | - | 35 | - | - | - | - |
| Lamb, 2005 | - | microsatellite-based genomic screen | | | autism | 207 | - | 207 | - | 420 | - | - |
| Lauritsen, 2006 | Faroe Islands | microsatellite-based genomic screen | | | autism | - | - | - | - | 12 | 44 | 56 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | Tissue | #Subjects (% Women) |
ADI-R | ADOS | Endo- pheno | Diagnosis | Normal Controls (% Women) |
Fold Change | Up/ Down | P/Q value | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Baron, 2006_1 | America | human EBV-transformed lymphoblastoid cell lines | 3 (33.33%) | | | - | autism | 3 (33.33%) |
-1.37 | Down | 0.05 | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
NGS 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.