AutismKB 2.0

Evidence Details for CENPT


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Basic Information Top
Gene Symbol:CENPT ( C16orf56,CENP-T,FLJ13111,FLJ43376 )
Gene Full Name: centromere protein T
Band: 16q22.1
Quick LinksEntrez ID:80152; OMIM: 611510; Uniprot ID:CENPT_HUMAN; ENSEMBL ID: ENSG00000102901; HGNC ID: 25787
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CENPT|80152|nucleotide
ATGGCTGACCACAACCCTGACAGCGACTCCACGCCGCGCACGCTGCTGCGACGCGTGCTGGATACAGCGGACCCGCGCACCCCGCGGCGACCCCGGAGTGCTCGG
GCTGGAGCCCGGAGAGCCCTGCTTGAAACGGCTTCCCCCAGGAAGTTGAGTGGCCAAACAAGGACGATAGCCAGAGGGCGTTCCCATGGAGCCAGGTCTGTTGGC
AGATCGGCCCATATTCAGGCCAGTGGGCACTTGGAGGAACAGACACCTCGGACGCTGCTGAAGAACATCCTACTAACTGCCCCAGAATCTTCCATCCTGATGCCT
GAGTCGGTAGTGAAGCCAGTGCCAGCACCGCAGGCGGTCCAACCCTCCAGACAAGAGAGCAGTTGCGGCAGCCTGGAGCTGCAACTTCCTGAGCTCGAGCCCCCC
ACAACCCTGGCTCCAGGTCTGCTGGCCCCTGGCAGGAGGAAACAGAGGCTGAGACTGTCAGTGTTTCAGCAGGGAGTGGACCAGGGGCTGTCTCTCTCCCAAGAG
CCTCAAGGGAATGCTGATGCCTCTTCCCTCACCAGATCCCTCAACCTGACCTTTGCCACACCTCTTCAGCCACAGTCAGTGCAGAGGCCTGGCTTGGCCCGCAGA
CCTCCAGCCCGCCGAGCTGTAGACGTGGGTGCCTTTTTGCGGGATCTGCGAGATACTTCCCTGGCTCCTCCAAACATTGTGTTGGAGGACACCCAGCCGTTCTCT
CAGCCCATGGTTGGCTCCCCCAACGTGTATCACTCCCTGCCCTGCACGCCTCACACTGGGGCTGAAGACGCTGAGCAGGCTGCCGGTCGCAAGACACAGAGCAGT
GGGCCTGGGCTGCAGAAGAATAGCCCTGGGAAACCAGCCCAGTTTCTGGCAGGAGAGGCAGAGGAGGTCAATGCCTTTGCTCTGGGCTTCCTGAGCACCAGCAGT
GGTGTCTCTGGAGAAGATGAAGTAGAGCCCTTACACGATGGAGTTGAAGAGGCAGAGAAAAAGATGGAAGAAGAAGGTGTGAGTGTGAGTGAAATGGAGGCAACA
GGAGCACAAGGACCCAGCAGGGTAGAAGAGGCTGAGGGACACACAGAGGTGACAGAAGCAGAGGGATCCCAGGGGACTGCTGAGGCTGACGGGCCAGGAGCATCT
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>CENPT|80152|protein
MADHNPDSDSTPRTLLRRVLDTADPRTPRRPRSARAGARRALLETASPRKLSGQTRTIARGRSHGARSVGRSAHIQASGHLEEQTPRTLLKNILLTAPESSILMP
ESVVKPVPAPQAVQPSRQESSCGSLELQLPELEPPTTLAPGLLAPGRRKQRLRLSVFQQGVDQGLSLSQEPQGNADASSLTRSLNLTFATPLQPQSVQRPGLARR
PPARRAVDVGAFLRDLRDTSLAPPNIVLEDTQPFSQPMVGSPNVYHSLPCTPHTGAEDAEQAAGRKTQSSGPGLQKNSPGKPAQFLAGEAEEVNAFALGFLSTSS
GVSGEDEVEPLHDGVEEAEKKMEEEGVSVSEMEATGAQGPSRVEEAEGHTEVTEAEGSQGTAEADGPGASSGDEDASGRAASPESASSTPESLQARRHHQFLEPA
PAPGAAVLSSEPAEPLLVRHPPRPRTTGPRPRQDPHKAGLSHYVKLFSFYAKMPMERKALEMVEKCLDKYFQHLCDDLEVFAAHAGRKTVKPEDLELLMRRQGLV
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top