AutismKB 2.0

Evidence Details for PMS2


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Basic Information Top
Gene Symbol:PMS2 ( HNPCC4,PMS2CL,PMSL2 )
Gene Full Name: PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
Band: 7p22.1
Quick LinksEntrez ID:5395; OMIM: 600259; Uniprot ID:PMS2_HUMAN; ENSEMBL ID: ENSG00000122512; HGNC ID: 9122
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PMS2|5395|nucleotide
ATGGAGCGAGCTGAGAGCTCGAGTACAGAACCTGCTAAGGCCATCAAACCTATTGATCGGAAGTCAGTCCATCAGATTTGCTCTGGGCAGGTGGTACTGAGTCTA
AGCACTGCGGTAAAGGAGTTAGTAGAAAACAGTCTGGATGCTGGTGCCACTAATATTGATCTAAAGCTTAAGGACTATGGAGTGGATCTTATTGAAGTTTCAGAC
AATGGATGTGGGGTAGAAGAAGAAAACTTCGAAGGCTTAACTCTGAAACATCACACATCTAAGATTCAAGAGTTTGCCGACCTAACTCAGGTTGAAACTTTTGGC
TTTCGGGGGGAAGCTCTGAGCTCACTTTGTGCACTGAGCGATGTCACCATTTCTACCTGCCACGCATCGGCGAAGGTTGGAACTCGACTGATGTTTGATCACAAT
GGGAAAATTATCCAGAAAACCCCCTACCCCCGCCCCAGAGGGACCACAGTCAGCGTGCAGCAGTTATTTTCCACACTACCTGTGCGCCATAAGGAATTTCAAAGG
AATATTAAGAAGGAGTATGCCAAAATGGTCCAGGTCTTACATGCATACTGTATCATTTCAGCAGGCATCCGTGTAAGTTGCACCAATCAGCTTGGACAAGGAAAA
CGACAGCCTGTGGTATGCACAGGTGGAAGCCCCAGCATAAAGGAAAATATCGGCTCTGTGTTTGGGCAGAAGCAGTTGCAAAGCCTCATTCCTTTTGTTCAGCTG
CCCCCTAGTGACTCCGTGTGTGAAGAGTACGGTTTGAGCTGTTCCGATGCTCTGCATAATCTTTTTTACATCTCAGGTTTCATTTCACAATGCACGCATGGAGTT
GGAAGGAGTTCAACAGACAGACAGTTTTTCTTTATCAACCGGCGGCCTTGTGACCCAGCAAAGGTCTGCAGACTCGTGAATGAGGTCTACCACATGTATAATCGA
CACCAGTATCCATTTGTTGTTCTTAACATTTCTGTTGATTCAGAATGCGTTGATATCAATGTTACTCCAGATAAAAGGCAAATTTTGCTACAAGAGGAAAAGCTT
TTGTTGGCAGTTTTAAAGACCTCTTTGATAGGAATGTTTGATAGTGATGTCAACAAGCTAAATGTCAGTCAGCAGCCACTGCTGGATGTTGAAGGTAACTTAATA
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>PMS2|5395|protein
MERAESSSTEPAKAIKPIDRKSVHQICSGQVVLSLSTAVKELVENSLDAGATNIDLKLKDYGVDLIEVSDNGCGVEEENFEGLTLKHHTSKIQEFADLTQVETFG
FRGEALSSLCALSDVTISTCHASAKVGTRLMFDHNGKIIQKTPYPRPRGTTVSVQQLFSTLPVRHKEFQRNIKKEYAKMVQVLHAYCIISAGIRVSCTNQLGQGK
RQPVVCTGGSPSIKENIGSVFGQKQLQSLIPFVQLPPSDSVCEEYGLSCSDALHNLFYISGFISQCTHGVGRSSTDRQFFFINRRPCDPAKVCRLVNEVYHMYNR
HQYPFVVLNISVDSECVDINVTPDKRQILLQEEKLLLAVLKTSLIGMFDSDVNKLNVSQQPLLDVEGNLIKMHAADLEKPMVEKQDQSPSLRTGEEKKDVSISRL
REAFSLRHTTENKPHSPKTPEPRRSPLGQKRGMLSSSTSGAISDKGVLRPQKEAVSSSHGPSDPTDRAEVEKDSGHGSTSVDSEGFSIPDTGSHCSSEYAASSPG
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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 (0) 0 (0) 0 (0) 0 (0) 2 (3)
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
Yu, 2002 USA STS mappingPDD 105 - 105 - - 668 668
Bremer, 2011 - aCGHASD - - - - 223 - 223
Goitia V, 2015 Hispanic array CGH --ASD - - - - 1 - 1
Linkage Studies Top