AutismKB 2.0

Evidence Details for PHKB


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Basic Information Top
Gene Symbol:PHKB ( DKFZp781E15103,FLJ41698 )
Gene Full Name: phosphorylase kinase, beta
Band: 16q12.1
Quick LinksEntrez ID:5257; OMIM: 172490; Uniprot ID:KPBB_HUMAN; ENSEMBL ID: ENSG00000102893; HGNC ID: 8927
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PHKB|5257|nucleotide
ATGGCGGGGGCGGCGGGACTCACGGCAGAAGTGAGCTGGAAGGTCTTGGAGCGAAGAGCTCGGACCAAGCGCTCAGGCTCAGTTTATGAACCTCTTAAAAGCATT
AATCTTCCAAGACCTGATAATGAAACTCTCTGGGATAAGTTGGACCATTATTACAGAATTGTCAAGTCAACATTGCTGCTGTATCAAAGTCCAACTACCGGTCTC
TTTCCCACTAAAACATGCGGTGGTGACCAGAAGGCCAAGATCCAGGACAGCCTATACTGCGCTGCTGGGGCCTGGGCTTTGGCTCTTGCATACAGGCGAATTGAT
GATGACAAGGGAAGGACCCATGAGCTGGAGCACTCAGCTATAAAATGCATGAGAGGAATTCTCTACTGCTATATGCGTCAGGCCGATAAGGTCCAGCAGTTTAAG
CAGGATCCACGCCCAACAACATGTCTTCACTCTGTTTTCAATGTGCATACAGGAGATGAGTTGCTTTCCTATGAGGAATATGGTCATCTTCAGATAAATGCAGTG
TCACTTTATCTCCTTTACCTTGTGGAAATGATTTCCTCAGGACTCCAGATTATCTACAACACTGATGAGGTCTCTTTTATTCAAAACCTTGTATTTTGTGTGGAA
AGAGTTTACCGTGTGCCTGACTTTGGTGTCTGGGAAAGAGGAAGCAAATATAATAATGGCAGCACAGAGCTACATTCGAGCTCGGTTGGTTTAGCAAAAGCAGCT
CTAGAAGCAATTAATGGATTCAACCTTTTTGGCAACCAGGGCTGTTCGTGGTCAGTTATATTTGTGGATCTCGATGCTCACAATCGCAACAGGCAAACTTTGTGC
TCGCTGTTACCCAGAGAATCAAGATCACATAATACAGATGCTGCCCTGCTCCCCTGCATCAGTTATCCTGCATTTGCCCTGGATGATGAAGTTCTTTTTAGCCAG
ACACTTGATAAAGTGGTTAGAAAATTAAAAGGAAAATATGGATTTAAACGTTTCTTGAGAGATGGGTATAGAACATCATTGGAAGATCCCAACAGATGCTACTAC
AAGCCAGCTGAAATTAAGCTATTTGATGGCATTGAATGTGAATTTCCCATATTTTTCCTTTATATGATGATTGATGGAGTTTTTAGAGGCAATCCTAAGCAAGTA
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>PHKB|5257|protein
MAGAAGLTAEVSWKVLERRARTKRSGSVYEPLKSINLPRPDNETLWDKLDHYYRIVKSTLLLYQSPTTGLFPTKTCGGDQKAKIQDSLYCAAGAWALALAYRRID
DDKGRTHELEHSAIKCMRGILYCYMRQADKVQQFKQDPRPTTCLHSVFNVHTGDELLSYEEYGHLQINAVSLYLLYLVEMISSGLQIIYNTDEVSFIQNLVFCVE
RVYRVPDFGVWERGSKYNNGSTELHSSSVGLAKAALEAINGFNLFGNQGCSWSVIFVDLDAHNRNRQTLCSLLPRESRSHNTDAALLPCISYPAFALDDEVLFSQ
TLDKVVRKLKGKYGFKRFLRDGYRTSLEDPNRCYYKPAEIKLFDGIECEFPIFFLYMMIDGVFRGNPKQVQEYQDLLTPVLHHTTEGYPVVPKYYYVPADFVEYE
KNNPGSQKRFPSNCGRDGKLFLWGQALYIIAKLLADELISPKDIDPVQRYVPLKDQRNVSMRFSNQGPLENDLVVHVALIAESQRLQVFLNTYGIQTQTPQQVEP
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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