AutismKB 2.0

Evidence Details for PGK2


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Basic Information Top
Gene Symbol:PGK2 ( PGKB,PGKPS,dJ417L20.2 )
Gene Full Name: phosphoglycerate kinase 2
Band: 6p12.3
Quick LinksEntrez ID:5232; OMIM: 172270; Uniprot ID:PGK2_HUMAN; ENSEMBL ID: ENSG00000170950; HGNC ID: 8898
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PGK2|5232|nucleotide
ATGTCTCTTTCTAAGAAGTTGACTTTAGACAAACTGGATGTTAGAGGGAAGCGAGTCATCATGAGAGTAGACTTCAATGTTCCCATGAAGAAGAACCAGATTACA
AACAACCAGAGGATCAAGGCTTCCATCCCAAGCATCAAGTACTGCCTGGACAATGGAGCCAAGGCAGTAGTTCTTATGAGTCATCTAGGTCGGCCTGATGGTGTT
CCCATGCCTGACAAATATTCCTTAGCACCTGTTGCTGTTGAGCTCAAATCCTTGCTGGGCAAGGATGTTCTGTTCCTGAAGGACTGTGTAGGCGCAGAAGTGGAG
AAAGCCTGTGCCAACCCAGCTCCTGGTTCAGTCATCCTGCTGGAGAACCTGCGCTTTCATGTGGAGGAAGAAGGGAAGGGCCAAGATCCCTCTGGAAAGAAGATT
AAAGCTGAGCCAGATAAAATAGAAGCCTTCCGAGCATCACTTTCCAAGCTAGGGGACGTCTATGTCAATGATGCTTTTGGCACTGCACACCGCGCTCATAGTTCC
ATGGTGGGAGTGAATCTGCCCCATAAAGCATCCGGATTCTTGATGAAGAAGGAACTAGATTACTTTGCTAAAGCCTTGGAAAACCCAGTGAGACCCTTTCTGGCT
ATACTTGGTGGAGCCAAAGTGGCAGACAAGATCCAACTTATCAAAAATATGCTGGACAAAGTCAATGAGATGATTATTGGTGGTGGAATGGCTTATACCTTCCTT
AAGGTACTCAACAACATGGAGATTGGTGCTTCCCTGTTTGATGAAGAGGGAGCCAAGATCGTTAAAGATATCATGGCCAAAGCACAAAAGAATGGTGTAAGGATT
ACTTTTCCTGTTGATTTTGTTACTGGGGACAAGTTTGACGAGAACGCTCAGGTTGGAAAAGCCACTGTAGCATCTGGCATATCTCCTGGCTGGATGGGTTTGGAC
TGTGGTCCTGAGAGCAACAAGAATCATGCTCAAGTTGTGGCTCAAGCAAGGCTAATTGTTTGGAATGGGCCGTTAGGAGTATTTGAATGGGATGCCTTTGCTAAG
GGAACCAAAGCCCTCATGGATGAAATTGTGAAAGCCACTTCCAAGGGCTGCATCACTGTTATAGGGGGTGGAGACACTGCTACTTGCTGTGCCAAATGGAACACT
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>PGK2|5232|protein
MSLSKKLTLDKLDVRGKRVIMRVDFNVPMKKNQITNNQRIKASIPSIKYCLDNGAKAVVLMSHLGRPDGVPMPDKYSLAPVAVELKSLLGKDVLFLKDCVGAEVE
KACANPAPGSVILLENLRFHVEEEGKGQDPSGKKIKAEPDKIEAFRASLSKLGDVYVNDAFGTAHRAHSSMVGVNLPHKASGFLMKKELDYFAKALENPVRPFLA
ILGGAKVADKIQLIKNMLDKVNEMIIGGGMAYTFLKVLNNMEIGASLFDEEGAKIVKDIMAKAQKNGVRITFPVDFVTGDKFDENAQVGKATVASGISPGWMGLD
CGPESNKNHAQVVAQARLIVWNGPLGVFEWDAFAKGTKALMDEIVKATSKGCITVIGGGDTATCCAKWNTEDKVSHVSTGGGASLELLEGKILPGVEALSNM

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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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top