AutismKB 2.0

Evidence Details for PHKA2


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Basic Information Top
Gene Symbol:PHKA2 ( GSD9A,MGC133071,PHK,PYK,PYKL,XLG,XLG2 )
Gene Full Name: phosphorylase kinase, alpha 2 (liver)
Band: Xp22.13
Quick LinksEntrez ID:5256; OMIM: 300798; Uniprot ID:KPB2_HUMAN; ENSEMBL ID: ENSG00000044446; HGNC ID: 8926
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PHKA2|5256|nucleotide
ATGCGGAGCAGGAGCAATTCCGGGGTCCGCTTGGACGGGTACGCGCGGCTGGTGCAGCAAACCATCCTGTGTTACCAGAATCCCGTCACGGGGCTGCTGTCAGCC
AGCCATGAGCAGAAGGATGCCTGGGTGCGGGATAACATCTACAGTATCCTGGCCGTGTGGGGCCTGGGCATGGCCTACCGTAAGAATGCAGACCGCGATGAGGAC
AAGGCCAAGGCCTACGAGCTGGAGCAGAACGTGGTGAAGCTGATGCGAGGTCTTCTCCAGTGCATGATGAGACAGGTGGCCAAAGTGGAGAAGTTCAAACACACT
CAGAGCACCAAGGACAGCCTGCACGCCAAGTACAACACCGCCACCTGTGGCACGGTGGTGGGCGACGACCAGTGGGGCCACCTCCAGGTGGATGCCACCTCTCTC
TTCCTCCTGTTCCTGGCCCAGATGACCGCCTCAGGCTTACGTATCATTTTCACTCTCGATGAGGTGGCCTTCATACAGAATCTTGTCTTTTACATAGAAGCTGCA
TATAAAGTCGCTGATTATGGAATGTGGGAGCGTGGAGATAAGACTAATCAGGGCATCCCGGAATTGAATGCAAGCTCCGTAGGAATGGCCAAGGCAGCTCTTGAG
GCAATTGATGAACTGGACCTTTTTGGAGCCCATGGAGGACGCAAGTCAGTGATTCATGTTCTGCCAGATGAGGTCGAGCACTGCCAGTCTATTCTGTTCTCCATG
CTGCCAAGAGCGTCGACATCTAAAGAAATTGATGCTGGACTTCTTTCCATTATTTCCTTCCCGGCCTTTGCAGTGGAAGATGTAAACCTTGTAAATGTGACCAAA
AATGAAATTATTTCTAAGCTCCAGGGGCGTTATGGATGCTGTCGCTTCCTTCGAGATGGTTATAAAACTCCAAGAGAGGACCCTAATCGACTGCATTATGACCCT
GCTGAACTCAAGCTCTTCGAAAACATTGAATGTGAGTGGCCTGTGTTTTGGACATATTTTATAATAGATGGAGTCTTCAGTGGTGATGCTGTTCAGGTCCAAGAA
TACCGAGAGGCCCTGGAGGGAATACTCATCAGAGGCAAGAATGGGATCCGCCTGGTGCCTGAACTCTACGCTGTCCCGCCTAACAAGGTAGATGAAGAGTACAAG
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>PHKA2|5256|protein
MRSRSNSGVRLDGYARLVQQTILCYQNPVTGLLSASHEQKDAWVRDNIYSILAVWGLGMAYRKNADRDEDKAKAYELEQNVVKLMRGLLQCMMRQVAKVEKFKHT
QSTKDSLHAKYNTATCGTVVGDDQWGHLQVDATSLFLLFLAQMTASGLRIIFTLDEVAFIQNLVFYIEAAYKVADYGMWERGDKTNQGIPELNASSVGMAKAALE
AIDELDLFGAHGGRKSVIHVLPDEVEHCQSILFSMLPRASTSKEIDAGLLSIISFPAFAVEDVNLVNVTKNEIISKLQGRYGCCRFLRDGYKTPREDPNRLHYDP
AELKLFENIECEWPVFWTYFIIDGVFSGDAVQVQEYREALEGILIRGKNGIRLVPELYAVPPNKVDEEYKNPHTVDRVPMGKVPHLWGQSLYILSSLLAEGFLAA
GEIDPLNRRFSTSVKPDVVVQVTVLAENNHIKDLLRKHGVNVQSIADIHPIQVQPGRILSHIYAKLGRNKNMNLSGRPYRHIGVLGTSKLYVIRNQIFTFTPQFT
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (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
Vazna, 2010 Czech aCGHASD - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Linkage Studies Top