Evidence Detail for RPS6KA3

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Basic Information Top

Gene Symbol:	RPS6KA3 ( CLS,HU-3,ISPK-1,MAPKAPK1B,MRX19,RSK,RSK2,S6K-alpha3,p90-RSK2,pp90RSK2 )
Gene Full Name:	ribosomal protein S6 kinase, 90kDa, polypeptide 3
Band:	Xp22.2-p22.1
Quick Links	Entrez ID:6197; OMIM: 300075; Uniprot ID:KS6A3_HUMAN; ENSEMBL ID: ENSG00000177189

Sequences Top

nucleotide Sequence
Protein Sequence

>RPS6KA3|6197|nucleotide
ATGCCGCTGGCGCAGCTGGCGGACCCGTGGCAGAAGATGGCTGTGGAGAGCCCGTCCGACAGCGCTGAGAATGGACAGCAAATTATGGATGAACCTATGGGAGAG
GAGGAGATTAACCCACAAACTGAAGAAGTCAGTATCAAAGAAATTGCAATCACACATCATGTAAAGGAAGGACATGAAAAGGCAGATCCTTCCCAGTTTGAACTT
TTAAAAGTATTAGGGCAGGGATCATTTGGAAAGGTTTTCTTAGTTAAAAAAATCTCAGGCTCTGATGCTAGGCAGCTTTATGCCATGAAGGTATTGAAGAAGGCC
ACACTGAAAGTTCGAGACCGAGTTCGGACAAAAATGGAACGTGATATCTTGGTAGAGGTTAATCATCCTTTTATTGTCAAGTTGCATTATGCTTTTCAAACTGAA
GGGAAGTTGTATCTTATTTTGGATTTTCTCAGGGGAGGAGATTTGTTTACACGCTTATCCAAAGAGGTGATGTTCACAGAAGAAGATGTCAAATTCTACTTGGCT
GAACTTGCACTTGCTTTAGACCATCTACATAGCCTGGGAATAATTTATAGAGACTTAAAACCAGAAAATATACTTCTTGATGAAGAAGGTCACATCAAGTTAACA
GATTTCGGCCTAAGTAAAGAGTCTATTGACCATGAAAAGAAGGCATATTCTTTTTGTGGAACTGTGGAGTATATGGCTCCAGAAGTAGTTAATCGTCGAGGTCAT
ACTCAGAGTGCTGACTGGTGGTCTTTTGGTGTGTTAATGTTTGAAATGCTTACTGGTACACTCCCTTTCCAAGGAAAAGATCGAAAAGAAACAATGACTATGATT
CTTAAAGCCAAACTTGGAATGCCACAGTTTTTGAGTCCTGAAGCGCAGAGTCTTTTACGAATGCTTTTCAAGCGAAATCCTGCAAACAGATTAGGTGCAGGACCA
GATGGAGTTGAAGAAATTAAAAGACATTCATTTTTCTCAACGATAGACTGGAATAAACTGTATAGAAGAGAAATTCATCCGCCATTTAAACCTGCAACGGGCAGG
CCTGAAGATACATTCTATTTTGATCCTGAGTTTACTGCAAAAACTCCCAAAGATTCACCTGGCATTCCACCTAGTGCTAATGCACATCAGCTTTTTCGGGGGTTT
AGTTTTGTTGCTATTACCTCAGATGATGAAAGCCAAGCTATGCAGACAGTTGGTGTACATTCAATTGTTCAGCAGTTACACAGGAACAGTATTCAGTTTACTGAT
GGATATGAAGTAAAAGAAGATATTGGAGTTGGCTCCTACTCTGTTTGCAAGAGATGTATACATAAAGCTACAAACATGGAGTTTGCAGTGAAGATTATTGATAAA
AGCAAGAGAGACCCAACAGAAGAAATTGAAATTCTTCTTCGTTATGGACAGCATCCAAACATTATCACTCTAAAGGATGTATATGATGATGGAAAGTATGTGTAT
GTAGTAACAGAACTTATGAAAGGAGGTGAATTGCTGGATAAAATTCTTAGACAAAAATTTTTCTCTGAACGAGAGGCCAGTGCTGTCCTGTTCACTATAACTAAA
ACCGTTGAATATCTTCACGCACAAGGGGTGGTTCATAGAGACTTGAAACCTAGCAACATTCTTTATGTGGATGAATCTGGTAATCCGGAATCTATTCGAATTTGT
GATTTTGGCTTTGCAAAACAGCTGAGAGCGGAAAATGGTCTTCTCATGACTCCTTGTTACACTGCAAATTTTGTTGCACCAGAGGTTTTAAAAAGACAAGGCTAT
GATGCTGCTTGTGATATATGGAGTCTTGGTGTCCTACTCTATACAATGCTTACCGGTTACACTCCATTTGCAAATGGTCCTGATGATACACCAGAGGAAATATTG
GCACGAATAGGTAGCGGAAAATTCTCACTCAGTGGTGGTTACTGGAATTCTGTTTCAGACACAGCAAAGGACCTGGTGTCAAAGATGCTTCATGTAGACCCTCAT
CAGAGACTGACTGCTGCTCTTGTGCTCAGACATCCTTGGATCGTCCACTGGGACCAACTGCCACAATACCAACTAAACAGACAGGATGCACCACATCTAGTAAAG
GGTGCCATGGCAGCTACATATTCTGCTTTGAACCGTAATCAGTCACCAGTTTTGGAACCAGTAGGCCGCTCTACTCTTGCTCAGCGGAGAGGTATTAAAAAAATC
ACCTCAACAGCCCTGTGA
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>RPS6KA3|6197|nucleotide
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Evidence Statistic Top

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Evidences	Syndromic Gene	GWAS	Expression	CNV	Linkage	Low Scale Association	Other Studies	Total
Score (No. of Studies)	No	0 (0)	0 (0)	1 (2)	0 (0)	0 (0)	2 (2)	16 (2)

Syndromic Autism Gene Top

Low Scale Association Studies (by Ethnic Group) Top

Reference	Population	#SNPs/ #VNTRs	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

Reference	Population	#SNPs/ #VNTRs	ASD Cases	Normal Controls	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
No Evidence.

Genome-Wide Association Studies(By Ethnic Group) Top

Reference	Stage	#SNPs/ #VNTRs	#Families	Affecteds	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ (range)
No Evidence.

Reference	Stage	#SNPs/ #VNTRs	ASD Cases	Normal Controls	Result
#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Age (range)	IQ	#Subjects (% Women)	Age (range)
No Evidence.

Other Low Scale Gene Studies Top

Reference	Orangnism	Tissue	Diagnosis	Evidence Level
Piton, 2010_1	human	blood	ASD	genetics: mutation screen
Subjects: 142( 122 males and 20 females) Normal Controls: - Methods: direct sequencing Evidence Details: Exonic variants identified during the the screening of the 192 X-linked synapic genes
O'Roak, 2012_1	human	blood	ASD	Mutation screen
Subjects: 209 simplex pedigrees Normal Controls: - Methods: direct sequencing Evidence Details: De novo functional mutation was found in this gene locus

Large Scale Expression Studies Top

Reference	Population	Tissue	#Subjects (% Women)	ADI-R	ADOS	Endo- pheno	Diagnosis	Normal Controls (% Women)	Fold Change	Up/ Down	P/Q value
No Evidence.

Reference	Population	Tissue	Platform	#Subjects (% Women)	ADI-R	ADOS	Diagnosis	Normal Controls(% Women)
No Evidence.

CNV Studies Top

CNV Name	Chr	Band	Gain/Loss	Number of CNVs		Evidence Type	Reference
CNV Name	Chr	Band	Gain/Loss	Case	Control	Evidence Type	Reference
AutCNV0000671	X	Xp22.1-p22.3	loss	1	-	CNVs Only Present In Patients;	Vazna, 2010
AutCNV0000713	X	Xp11.2-p22.33	gain	1	-	CNVs Only Present In Patients;	Edens, 2011

Linkage Studies Top

Linkage Name	Band	Chr	Marker	LOD	NPL	P_Value	Reference
No Matched Linkage Regions !

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 616
Genes: 3,075
SNPs/VNTRs: 3,386
CNVs: 4,617
Linkage Regions: 158
Last Update: 05/25/2012
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