AutismKB 2.0

Evidence Details for PM20D1


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Basic Information Top
Gene Symbol:PM20D1 ( Cps1,FLJ32569 )
Gene Full Name: peptidase M20 domain containing 1
Band: 1q32.1
Quick LinksEntrez ID:148811; OMIM: NA; Uniprot ID:P20D1_HUMAN; ENSEMBL ID: ENSG00000162877; HGNC ID: 26518
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PM20D1|148811|nucleotide
ATGGCTCAGCGGTGCGTTTGCGTGCTGGCCCTGGTGGCTATGCTGCTCCTAGTTTTCCCTACCGTCTCCAGATCGATGGGCCCGAGGAGCGGGGAGCATCAAAGG
GCGTCGCGAATCCCTTCTCAGTTCAGCAAAGAGGAACGCGTCGCGATGAAAGAGGCGCTGAAAGGTGCCATCCAGATTCCAACAGTGACTTTTAGCTCTGAGAAG
TCCAATACTACAGCCCTGGCTGAGTTCGGAAAATACATTCATAAAGTCTTTCCTACAGTGGTCAGCACCAGCTTTATCCAGCATGAAGTCGTGGAAGAGTATAGC
CACCTGTTCACTATCCAAGGCTCGGACCCCAGCTTGCAGCCCTACCTGCTGATGGCTCACTTTGATGTGGTGCCTGCCCCTGAAGAAGGCTGGGAGGTGCCCCCA
TTCTCTGGGTTGGAGCGTGATGGCATCATCTATGGTCGGGGCACACTGGACGACAAGAACTCTGTGATGGCATTACTGCAGGCCTTGGAGCTCCTGCTGATCAGG
AAGTACATCCCCCGAAGATCTTTCTTCATTTCTCTGGGCCATGATGAGGAGTCATCAGGGACAGGGGCTCAGAGGATCTCAGCCCTGCTACAGTCAAGGGGCGTC
CAGCTAGCCTTCATTGTGGACGAGGGGGGCTTCATCTTGGATGATTTCATTCCTAACTTCAAGAAGCCCATCGCCTTGATTGCAGTCTCAGAGAAGGGTTCCATG
AACCTCATGCTGCAAGTAAACATGACTTCAGGCCACTCTTCAGCTCCTCCAAAGGAGACAAGCATTGGCATCCTTGCAGCTGCTGTCAGCCGATTGGAGCAGACA
CCAATGCCTATCATATTTGGAAGCGGGACAGTGGTGACTGTATTGCAGCAACTGGCAAATGAGTTTCCCTTCCCTGTCAATATAATCCTGAGCAACCCATGGCTA
TTTGAACCACTTATAAGCAGGTTTATGGAGAGAAATCCCTTAACCAATGCAATAATCAGGACCACCACGGCACTCACCATATTCAAAGCAGGGGTCAAGTTCAAT
GTCATCCCCCCAGTGGCCCAGGCCACAGTCAACTTCCGGATTCACCCTGGACAGACAGTCCAAGAGGTCCTAGAACTCACGAAGAACATTGTGGCTGATAACAGA
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>PM20D1|148811|protein
MAQRCVCVLALVAMLLLVFPTVSRSMGPRSGEHQRASRIPSQFSKEERVAMKEALKGAIQIPTVTFSSEKSNTTALAEFGKYIHKVFPTVVSTSFIQHEVVEEYS
HLFTIQGSDPSLQPYLLMAHFDVVPAPEEGWEVPPFSGLERDGIIYGRGTLDDKNSVMALLQALELLLIRKYIPRRSFFISLGHDEESSGTGAQRISALLQSRGV
QLAFIVDEGGFILDDFIPNFKKPIALIAVSEKGSMNLMLQVNMTSGHSSAPPKETSIGILAAAVSRLEQTPMPIIFGSGTVVTVLQQLANEFPFPVNIILSNPWL
FEPLISRFMERNPLTNAIIRTTTALTIFKAGVKFNVIPPVAQATVNFRIHPGQTVQEVLELTKNIVADNRVQFHVLSAFDPLPVSPSDDKALGYQLLRQTVQSVF
PEVNITAPVTSIGNTDSRFFTNLTTGIYRFYPIYIQPEDFKRIHGVNEKISVQAYETQVKFIFELIQNADTDQEPVSHLHKL
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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 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top