AutismKB 2.0

Evidence Details for GRK5


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Basic Information Top
Gene Symbol:GRK5 ( FLJ39780,GPRK5 )
Gene Full Name: G protein-coupled receptor kinase 5
Band: 10q26.11
Quick LinksEntrez ID:2869; OMIM: 600870; Uniprot ID:GRK5_HUMAN; ENSEMBL ID: ENSG00000198873; HGNC ID: 4544
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GRK5|2869|nucleotide
ATGGAGCTGGAAAACATCGTGGCCAACACGGTCTTGCTGAAAGCCAGGGAAGGGGGCGGAGGAAAGCGCAAAGGGAAAAGCAAGAAGTGGAAAGAAATCCTGAAG
TTCCCTCACATTAGCCAGTGTGAAGACCTCCGAAGGACCATAGACAGAGATTACTGCAGTTTATGTGACAAGCAGCCAATCGGGAGGCTGCTTTTCCGGCAGTTT
TGTGAAACCAGGCCTGGGCTGGAGTGTTACATTCAGTTCCTGGACTCCGTGGCAGAATATGAAGTTACTCCAGATGAAAAACTGGGAGAGAAAGGGAAGGAAATT
ATGACCAAGTACCTCACCCCAAAGTCCCCTGTTTTCATAGCCCAAGTTGGCCAAGACCTGGTCTCCCAGACGGAGGAGAAGCTCCTACAGAAGCCGTGCAAAGAA
CTCTTTTCTGCCTGTGCACAGTCTGTCCACGAGTACCTGAGGGGAGAACCATTCCACGAATATCTGGACAGCATGTTTTTTGACCGCTTTCTCCAGTGGAAGTGG
TTGGAAAGGCAACCGGTGACCAAAAACACTTTCAGGCAGTATCGAGTGCTAGGAAAAGGGGGCTTCGGGGAGGTCTGTGCCTGCCAGGTTCGGGCCACGGGTAAA
ATGTATGCCTGCAAGCGCTTGGAGAAGAAGAGGATCAAAAAGAGGAAAGGGGAGTCCATGGCCCTCAATGAGAAGCAGATCCTCGAGAAGGTCAACAGTCAGTTT
GTGGTCAACCTGGCCTATGCCTACGAGACCAAGGATGCACTGTGCTTGGTCCTGACCATCATGAATGGGGGTGACCTGAAGTTCCACATCTACAACATGGGCAAC
CCTGGCTTCGAGGAGGAGCGGGCCTTGTTTTATGCGGCAGAGATCCTCTGCGGCTTAGAAGACCTCCACCGTGAGAACACCGTCTACCGAGATCTGAAACCTGAA
AACATCCTGTTAGATGATTATGGCCACATTAGGATCTCAGACCTGGGCTTGGCTGTGAAGATCCCCGAGGGAGACCTGATCCGCGGCCGGGTGGGCACTGTTGGC
TACATGGCTCCAGAGGTCCTGAACAACCAGAGGTACGGCCTGAGCCCCGACTACTGGGGCCTTGGCTGCCTCATCTATGAGATGATCGAGGGCCAGTCGCCGTTC
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>GRK5|2869|protein
MELENIVANTVLLKAREGGGGKRKGKSKKWKEILKFPHISQCEDLRRTIDRDYCSLCDKQPIGRLLFRQFCETRPGLECYIQFLDSVAEYEVTPDEKLGEKGKEI
MTKYLTPKSPVFIAQVGQDLVSQTEEKLLQKPCKELFSACAQSVHEYLRGEPFHEYLDSMFFDRFLQWKWLERQPVTKNTFRQYRVLGKGGFGEVCACQVRATGK
MYACKRLEKKRIKKRKGESMALNEKQILEKVNSQFVVNLAYAYETKDALCLVLTIMNGGDLKFHIYNMGNPGFEEERALFYAAEILCGLEDLHRENTVYRDLKPE
NILLDDYGHIRISDLGLAVKIPEGDLIRGRVGTVGYMAPEVLNNQRYGLSPDYWGLGCLIYEMIEGQSPFRGRKEKVKREEVDRRVLETEEVYSHKFSEEAKSIC
KMLLTKDAKQRLGCQEEGAAEVKRHPFFRNMNFKRLEAGMLDPPFVPDPRAVYCKDVLDIEQFSTVKGVNLDHTDDDFYSKFSTGSVSIPWQNEMIETECFKELN
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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 (1) 0 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (1) 0 (0) 0 (0) 1 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top