AutismKB 2.0

Evidence Details for TLK2


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Basic Information Top
Gene Symbol:TLK2 ( MGC44450,PKU-ALPHA )
Gene Full Name: tousled-like kinase 2
Band: 17q23
Quick LinksEntrez ID:11011; OMIM: 608439; Uniprot ID:TLK2_HUMAN; ENSEMBL ID: ENSG00000146872; HGNC ID: 11842
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TLK2|11011|nucleotide
ATGATGGAAGAATTGCATAGCCTGGACCCACGACGGCAGGAATTATTGGAGGCCAGGTTTACTGGAGTAGGTGTTAGTAAGGGACCACTTAATAGTGAGTCTTCC
AACCAGAGCTTGTGCAGCGTCGGATCCTTGAGTGATAAAGAAGTAGAGACTCCCGAGAAAAAGCAGAATGACCAGCGAAATCGGAAAAGAAAAGCTGAACCATAT
GAAACTAGCCAAGGGAAAGGCACTCCTAGGGGACATAAAATTAGTGATTACTTTGAGCGACGAGTAGAACAGCCCCTCTATGGTTTAGATGGCAGTGCTGCAAAG
GAGGCAACGGAGGAGCAGTCTGCTCTGCCAACCCTCATGTCAGTGATGCTAGCAAAACCTCGGCTTGACACAGAGCAGCTGGCGCAAAGGGGAGCTGGCCTCTGC
TTCACTTTTGTTTCAGCTCAGCAAAACAGTCCCTCATCTACGGGATCTGGCAACACAGAGCATTCCTGCAGCTCCCAAAAACAGATCTCCATCCAGCACAGACAG
ACCCAGTCCGACCTCACAATAGAAAAAATATCTGCACTAGAAAACAGTAAGAATTCTGACTTAGAGAAGAAGGAGGGAAGAATAGATGATTTATTAAGAGCCAAC
TGTGATTTGAGACGGCAGATTGATGAACAGCAAAAGATGCTAGAGAAATACAAGGAACGATTAAATAGATGTGTGACAATGAGCAAGAAACTCCTTATAGAAAAG
TCAAAACAAGAGAAGATGGCGTGTAGAGATAAGAGCATGCAAGACCGCTTGAGACTGGGCCACTTTACTACTGTCCGACACGGAGCCTCATTTACTGAACAGTGG
ACAGATGGTTATGCTTTTCAGAATCTTATCAAGCAACAGGAAAGGATAAATTCACAGAGGGAAGAGATAGAAAGACAACGGAAAATGTTAGCAAAGCGGAAACCT
CCTGCCATGGGTCAGGCCCCTCCTGCAACCAATGAGCAGAAACAGCGGAAAAGCAAGACCAATGGAGCTGAAAATGAAACGTTAACGTTAGCAGAATACCATGAA
CAAGAAGAAATCTTCAAACTCAGATTAGGTCATCTTAAAAAGGAGGAAGCAGAGATCCAGGCAGAGCTGGAGAGACTAGAAAGGGTTAGAAATCTACATATCAGG
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>TLK2|11011|protein
MMEELHSLDPRRQELLEARFTGVGVSKGPLNSESSNQSLCSVGSLSDKEVETPEKKQNDQRNRKRKAEPYETSQGKGTPRGHKISDYFERRVEQPLYGLDGSAAK
EATEEQSALPTLMSVMLAKPRLDTEQLAQRGAGLCFTFVSAQQNSPSSTGSGNTEHSCSSQKQISIQHRQTQSDLTIEKISALENSKNSDLEKKEGRIDDLLRAN
CDLRRQIDEQQKMLEKYKERLNRCVTMSKKLLIEKSKQEKMACRDKSMQDRLRLGHFTTVRHGASFTEQWTDGYAFQNLIKQQERINSQREEIERQRKMLAKRKP
PAMGQAPPATNEQKQRKSKTNGAENETLTLAEYHEQEEIFKLRLGHLKKEEAEIQAELERLERVRNLHIRELKRIHNEDNSQFKDHPTLNDRYLLLHLLGRGGFS
EVYKAFDLTEQRYVAVKIHQLNKNWRDEKKENYHKHACREYRIHKELDHPRIVKLYDYFSLDTDSFCTVLEYCEGNDLDFYLKQHKLMSEKEARSIIMQIVNALK
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Evidence summary Top

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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 (1) 1 (1) 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 14 (4)
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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Linkage Studies Top