AutismKB 2.0

Evidence Details for PGM2L1


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Basic Information Top
Gene Symbol:PGM2L1 ( BM32A,FLJ32029 )
Gene Full Name: phosphoglucomutase 2-like 1
Band: 11q13.4
Quick LinksEntrez ID:283209; OMIM: 611610; Uniprot ID:PGM2L_HUMAN; ENSEMBL ID: ENSG00000165434; HGNC ID: 20898
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PGM2L1|283209|nucleotide
ATGGCTGAAAACACAGAGGGGGATCTGAACTCCAACCTGCTCCACGCCCCCTACCACACCGGGGACCCTCAGCTGGACACGGCCATCGGGCAGTGGCTCCGCTGG
GATAAGAATCCCAAAACAAAAGAGCAGATTGAAAACCTGTTACGGAATGGGATGAACAAGGAGCTGCGAGATCGTCTTTGTTGCCGAATGACTTTTGGGACTGCA
GGACTTCGTTCTGCCATGGGGGCAGGGTTTTGCTATATTAATGACCTTACAGTAATACAGTCAACACAGGGGATGTACAAATACCTTGAGAGATGTTTCTCAGAC
TTCAAGCAGAGAGGCTTTGTGGTTGGGTATGACACTCGGGGTCAAGTAACTAGCAGCTGCAGCAGCCAGAGGCTTGCTAAACTCACTGCTGCAGTCTTGCTGGCC
AAAGATGTTCCTGTGTACCTTTTTTCAAGATATGTTCCTACACCTTTTGTACCATATGCAGTTCAGAAGCTCAAAGCAGTTGCAGGTGTGATGATTACTGCCTCT
CACAACCGCAAGGAAGACAATGGATACAAGGTTTACTGGGAAACTGGTGCTCAGATCACATCTCCTCATGATAAAGAAATTCTAAAATGTATAGAAGAATGTGTG
GAACCCTGGAATGGTTCCTGGAATGATAATTTAGTGGATACCAGCCCGCTGAAGAGAGACCCTCTGCAGGACATTTGCAGGAGATACATGGAAGATCTGAAAAAG
ATCTGTTTTTACAGGGAGTTAAACTCGAAGACCACCTTGAAATTTGTGCACACATCTTTTCATGGGGTCGGACATGACTATGTGCAGTTGGCTTTTAAAGTGTTT
GGTTTTAAGCCTCCAATTCCAGTACCAGAACAAAAAGATCCTGATCCAGACTTTTCTACCGTTAAATGTCCAAATCCTGAAGAAGGAGAATCTGTGCTGGAACTT
TCCTTGAGACTGGCAGAGAAAGAAAATGCCCGGGTAGTGCTAGCCACAGATCCTGATGCAGACAGACTGGCAGCAGCAGAACTTCAGGAGAATGGTTGTTGGAAA
GTTTTCACAGGGAATGAGTTGGCAGCTTTGTTTGGATGGTGGATGTTTGATTGCTGGAAGAAAAATAAATCAAGAAATGCTGATGTGAAGAACGTTTATATGTTA
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>PGM2L1|283209|protein
MAENTEGDLNSNLLHAPYHTGDPQLDTAIGQWLRWDKNPKTKEQIENLLRNGMNKELRDRLCCRMTFGTAGLRSAMGAGFCYINDLTVIQSTQGMYKYLERCFSD
FKQRGFVVGYDTRGQVTSSCSSQRLAKLTAAVLLAKDVPVYLFSRYVPTPFVPYAVQKLKAVAGVMITASHNRKEDNGYKVYWETGAQITSPHDKEILKCIEECV
EPWNGSWNDNLVDTSPLKRDPLQDICRRYMEDLKKICFYRELNSKTTLKFVHTSFHGVGHDYVQLAFKVFGFKPPIPVPEQKDPDPDFSTVKCPNPEEGESVLEL
SLRLAEKENARVVLATDPDADRLAAAELQENGCWKVFTGNELAALFGWWMFDCWKKNKSRNADVKNVYMLATTVSSKILKAIALKEGFHFEETLPGFKWIGSRII
DLLENGKEVLFAFEESIGFLCGTSVLDKDGVSAAVVVAEMASYLETMNITLKQQLVKVYEKYGYHISKTSYFLCYEPPTIKSIFERLRNFDSPKEYPKFCGTFAI
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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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Egger G, 2014 Austria Microarray--ASD 73 - - - 245 2357 -
Linkage Studies Top