AutismKB 2.0

Evidence Details for TNKS


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Basic Information Top
Gene Symbol:TNKS ( PARP-5a,PARP5A,PARPL,TIN1,TINF1,TNKS1,pART5 )
Gene Full Name: tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase
Band: 8p23.1
Quick LinksEntrez ID:8658; OMIM: 603303; Uniprot ID:TNKS1_HUMAN; ENSEMBL ID: ENSG00000173273; HGNC ID: 11941
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>TNKS|8658|nucleotide
ATGGCGGCGTCGCGTCGCTCTCAGCATCATCACCACCATCATCAACAACAGCTCCAGCCCGCCCCAGGGGCTTCAGCGCCGCCGCCGCCACCTCCTCCCCCACTC
AGCCCTGGCCTGGCCCCGGGGACCACCCCAGCCTCTCCCACGGCCAGCGGCCTGGCCCCCTTCGCCTCCCCGCGGCACGGCCTAGCGCTGCCGGAGGGGGATGGC
AGTCGGGATCCGCCCGACAGGCCCCGATCCCCGGACCCGGTTGACGGTACCAGCTGTTGCAGTACCACCAGCACAATCTGTACCGTCGCCGCCGCTCCCGTGGTC
CCAGCGGTTTCTACTTCATCTGCCGCTGGGGTCGCTCCCAACCCAGCCGGCAGTGGCAGTAACAATTCACCGTCGTCCTCTTCTTCCCCGACTTCTTCCTCATCT
TCCTCTCCATCCTCCCCTGGATCGAGCTTGGCGGAGAGCCCCGAGGCGGCCGGAGTTAGCAGCACAGCACCACTGGGGCCTGGGGCAGCAGGACCTGGGACAGGG
GTCCCAGCAGTGAGCGGGGCCCTACGGGAACTGCTGGAGGCCTGTCGCAATGGGGACGTGTCCCGGGTAAAGAGGCTGGTGGACGCGGCAAACGTAAATGCAAAG
GACATGGCCGGCCGGAAGTCTTCTCCCCTGCACTTCGCTGCAGGTTTTGGAAGGAAGGATGTTGTAGAACACTTACTACAGATGGGTGCTAATGTCCACGCTCGT
GATGATGGAGGTCTCATCCCGCTTCATAATGCCTGTTCTTTTGGCCATGCTGAGGTTGTGAGTCTGTTATTGTGCCAAGGAGCTGATCCAAATGCCAGGGATAAC
TGGAACTATACACCTCTGCATGAAGCTGCTATTAAAGGGAAGATCGATGTGTGCATTGTGCTGCTGCAGCACGGAGCTGACCCAAACATTCGGAACACTGATGGG
AAATCAGCCCTGGACCTGGCAGATCCTTCAGCAAAAGCTGTCCTTACAGGTGAATACAAGAAAGACGAACTCCTAGAAGCTGCTAGGAGTGGTAATGAAGAAAAA
CTAATGGCTTTACTGACTCCTCTAAATGTGAATTGCCATGCAAGTGATGGGCGAAAGTCGACTCCTTTACATCTAGCAGCGGGCTACAACAGAGTTCGAATAGTT
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>TNKS|8658|protein
MAASRRSQHHHHHHQQQLQPAPGASAPPPPPPPPLSPGLAPGTTPASPTASGLAPFASPRHGLALPEGDGSRDPPDRPRSPDPVDGTSCCSTTSTICTVAAAPVV
PAVSTSSAAGVAPNPAGSGSNNSPSSSSSPTSSSSSSPSSPGSSLAESPEAAGVSSTAPLGPGAAGPGTGVPAVSGALRELLEACRNGDVSRVKRLVDAANVNAK
DMAGRKSSPLHFAAGFGRKDVVEHLLQMGANVHARDDGGLIPLHNACSFGHAEVVSLLLCQGADPNARDNWNYTPLHEAAIKGKIDVCIVLLQHGADPNIRNTDG
KSALDLADPSAKAVLTGEYKKDELLEAARSGNEEKLMALLTPLNVNCHASDGRKSTPLHLAAGYNRVRIVQLLLQHGADVHAKDKGGLVPLHNACSYGHYEVTEL
LLKHGACVNAMDLWQFTPLHEAASKNRVEVCSLLLSHGADPTLVNCHGKSAVDMAPTPELRERLTYEFKGHSLLQAAREADLAKVKKTLALEIINFKQPQSHETA
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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 (3) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (5)
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
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Nord, 2011 US aCGH--ASD - - - - 41 367 408
Linkage Studies Top