AutismKB 2.0

Evidence Details for FPGS


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Basic Information Top
Gene Symbol:FPGS ( - )
Gene Full Name: folylpolyglutamate synthase
Band: 9q34.11
Quick LinksEntrez ID:2356; OMIM: 136510; Uniprot ID:FOLC_HUMAN; ENSEMBL ID: ENSG00000136877; HGNC ID: 3824
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FPGS|2356|nucleotide
ATGCTCAATACCCTGCAGACCAATGCCGGCTACCTGGAGCAGGTGAAGCGCCAGCGGGGTGACCCTCAGACACAGTTGGAAGCCATGGAACTGTACCTGGCACGG
AGTGGGCTGCAGGTGGAGGACTTGGACCGGCTGAACATCATCCACGTCACTGGGACGAAGGGGAAGGGCTCCACCTGTGCCTTCACGGAATGTATCCTCCGAAGC
TATGGCCTGAAGACGGGATTCTTTAGCTCTCCCCACCTGGTGCAGGTTCGGGAGCGGATCCGCATCAATGGGCAGCCCATCAGTCCTGAGCTCTTCACCAAGTAC
TTCTGGCGCCTCTACCACCGGCTGGAGGAGACCAAGGATGGCAGCTGTGTCTCCATGCCCCCCTACTTCCGCTTCCTGACACTCATGGCCTTCCACGTCTTCCTC
CAAGAGAAGGTGGACCTGGCAGTGGTGGAGGTGGGCATTGGCGGGGCTTATGACTGCACCAACATCATCAGGAAGCCTGTGGTGTGCGGAGTCTCCTCTCTTGGC
ATCGACCACACCAGCCTCCTGGGGGATACGGTGGAGAAGATCGCATGGCAGAAAGGGGGCATCTTTAAGCAAGGTGTCCCTGCCTTCACTGTGCTCCAACCTGAA
GGTCCCCTGGCAGTGCTGAGGGACCGAGCCCAGCAGATCTCATGTCCTCTATACCTGTGTCCGATGCTGGAGGCCCTCGAGGAAGGGGGGCCGCCGCTGACCCTG
GGCCTGGAGGGGGAGCACCAGCGGTCCAACGCCGCCTTGGCCTTGCAGCTGGCCCACTGCTGGCTGCAGCGGCAGGACCGCCATGGTGCTGGGGAGCCAAAGGCA
TCCAGGCCAGGGCTCCTGTGGCAGCTGCCCCTGGCACCTGTGTTCCAGCCCACATCCCACATGCGGCTCGGGCTTCGGAACACGGAGTGGCCGGGCCGGACGCAG
GTGCTGCGGCGCGGGCCCCTCACCTGGTACCTGGACGGTGCGCACACCGCCAGCAGCGCGCAGGCCTGCGTGCGCTGGTTCCGCCAGGCGCTGCAGGGCCGCGAG
AGGCCGAGCGGTGGCCCCGAGGTTCGAGTCTTGCTCTTCAATGCTACCGGGGACCGGGACCCGGCGGCCCTGCTGAAGCTGCTGCAGCCCTGCCAGTTTGACTAT
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>FPGS|2356|protein
MLNTLQTNAGYLEQVKRQRGDPQTQLEAMELYLARSGLQVEDLDRLNIIHVTGTKGKGSTCAFTECILRSYGLKTGFFSSPHLVQVRERIRINGQPISPELFTKY
FWRLYHRLEETKDGSCVSMPPYFRFLTLMAFHVFLQEKVDLAVVEVGIGGAYDCTNIIRKPVVCGVSSLGIDHTSLLGDTVEKIAWQKGGIFKQGVPAFTVLQPE
GPLAVLRDRAQQISCPLYLCPMLEALEEGGPPLTLGLEGEHQRSNAALALQLAHCWLQRQDRHGAGEPKASRPGLLWQLPLAPVFQPTSHMRLGLRNTEWPGRTQ
VLRRGPLTWYLDGAHTASSAQACVRWFRQALQGRERPSGGPEVRVLLFNATGDRDPAALLKLLQPCQFDYAVFCPNLTEVSSTGNADQQNFTVTLDQVLLRCLEH
QQHWNHLDEEQASPDLWSAPSPEPGGSASLLLAPHPPHTCSASSLVFSCISHALQWISQGRDPIFQPPSPPKGLLTHPVAHSGASILREAAAIHVLVTGSLHLVG
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top