AutismKB 2.0

Evidence Details for TLK1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:TLK1 ( KIAA0137,PKU-beta )
Gene Full Name: tousled-like kinase 1
Band: 2q31.1
Quick LinksEntrez 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
Show »

>TLK1|9874|protein
MDELHSLDPRRQELLEARFTGVASGSTGSTGSCSVGAKASTNNESSNHSFGSLGSLSDKESETPEKKQSESSRGRKRKAENQNESSQGKSIGGRGHKISDYFEYQ
GGNGSSPVRGIPPAIRSPQNSHSHSTPSSSVRPNSPSPTALAFGDHPIVQPKQLSFKIIQTDLTMLKLAALESNKIQDLEKKEGRIDDLLRANCDLRRQIDEQQK
LLEKYKERLNKCISMSKKLLIEKSTQEKLSSREKSMQDRLRLGHFTTVRHGASFTEQWTDGFAFQNLVKQQEWVNQQREDIERQRKLLAKRKPPTANNSQAPSTN
SEPKQRKNKAVNGAENDPFVRPNLPQLLTLAEYHEQEEIFKLRLGHLKKEEAEIQAELERLERVRNLHIRELKRINNEDNSQFKDHPTLNERYLLLHLLGRGGFS
EVYKAFDLYEQRYAAVKIHQLNKSWRDEKKENYHKHACREYRIHKELDHPRIVKLYDYFSLDTDTFCTVLEYCEGNDLDFYLKQHKLMSEKEARSIVMQIVNALR
Show »

Evidence summary Top

Click 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 Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top