AutismKB 2.0

Evidence Details for POT1


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Basic Information Top
Gene Symbol:POT1 ( DKFZp586D211,HPOT1 )
Gene Full Name: protection of telomeres 1 homolog (S. pombe)
Band: 7q31.33
Quick LinksEntrez ID:25913; OMIM: 606478; Uniprot ID:POTE1_HUMAN; ENSEMBL ID: ENSG00000128513; HGNC ID: 17284
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>POT1|25913|nucleotide
ATGGTAGAAGCCTTACGTGTTTGGGCATCTACTCATATGTCACCGTCTTGGACATTACTAAAATTGTGTGATGTTCAGCCAATGCAGTATTTTGACCTGACTTGT
CAGCTCTTGGGCAAAGCAGAAGTGGACGGAGCATCATTTCTTCTAAAGGTATGGGATGGCACCAGGACACCATTTCCATCTTGGAGAGTCTTAATACAAGACCTT
GTTCTTGAAGGTGATTTAAGTCACATCCATCGGCTACAAAATCTGACAATAGACATTTTAGTCTACGATAACCATGTTCATGTGGCAAGATCTCTGAAGGTTGGA
AGCTTTCTTAGAATCTATAGCCTTCATACCAAACTTCAATCAATGAATTCAGAGAATCAGACAATGTTAAGTTTAGAGTTTCATCTTCATGGAGGTACCAGTTAC
GGTCGGGGAATCAGGGTCTTGCCAGAAAGTAACTCTGATGTGGATCAACTGAAAAAGGATTTAGAATCTGCAAATTTGACAGCCAATCAGCATTCAGATGTTATC
TGTCAATCAGAACCTGACGACAGCTTTCCAAGCTCTGGATCAGTATCATTATACGAGGTAGAAAGATGTCAACAGCTATCTGCTACAATACTTACAGATCATCAG
TATTTGGAGAGGACACCACTATGTGCCATTTTGAAACAAAAAGCTCCTCAACAATACCGCATCCGAGCAAAATTGAGGTCATATAAGCCCAGAAGACTATTTCAG
TCTGTTAAACTTCATTGCCCTAAATGTCATTTGCTGCAAGAAGTTCCACATGAGGGCGATTTGGATATAATTTTTCAGGATGGTGCAACTAAAACCCCAGATGTC
AAGCTACAAAATACATCATTATATGATTCAAAAATCTGGACCACTAAAAATCAAAAAGGACGAAAAGTAGCAGTTCATTTTGTGAAAAATAATGGTATTCTCCCG
CTTTCAAATGAATGTCTACTTTTGATAGAAGGAGGTACACTCAGTGAAATTTGCAAACTCTCGAACAAGTTTAATAGTGTAATTCCTGTGAGATCTGGCCACGAA
GACCTGGAACTTTTGGACCTTTCAGCACCATTTCTTATACAAGGAACAATACATCACTATGGATGTAAACAGTGTTCTAGTTTGAGATCCATACAAAATCTAAAT
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>POT1|25913|protein
MVEALRVWASTHMSPSWTLLKLCDVQPMQYFDLTCQLLGKAEVDGASFLLKVWDGTRTPFPSWRVLIQDLVLEGDLSHIHRLQNLTIDILVYDNHVHVARSLKVG
SFLRIYSLHTKLQSMNSENQTMLSLEFHLHGGTSYGRGIRVLPESNSDVDQLKKDLESANLTANQHSDVICQSEPDDSFPSSGSVSLYEVERCQQLSATILTDHQ
YLERTPLCAILKQKAPQQYRIRAKLRSYKPRRLFQSVKLHCPKCHLLQEVPHEGDLDIIFQDGATKTPDVKLQNTSLYDSKIWTTKNQKGRKVAVHFVKNNGILP
LSNECLLLIEGGTLSEICKLSNKFNSVIPVRSGHEDLELLDLSAPFLIQGTIHHYGCKQCSSLRSIQNLNSLVDKTSWIPSSVAEALGIVPLQYVFVMTFTLDDG
TGVLEAYLMDSDKFFQIPASEVLMDDDLQKSVDMIMDMFCPPGIKIDAYPWLECFIKSYNVTNGTDNQICYQIFDTTVAEDVI
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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) 0 (4) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (6)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Okamoto, 2011 Japan -ASD - - - - 1 - 1
Linkage Studies Top