Evidence Details for RFC3

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Basic Information Top

Gene Symbol:	RFC3 ( MGC5276,RFC38 )
Gene Full Name:	replication factor C (activator 1) 3, 38kDa
Band:	13q13.2
Quick Links	Entrez ID:5983; OMIM: 600405; Uniprot ID:RFC3_HUMAN; ENSEMBL ID: ENSG00000133119; HGNC ID: 9971
Relate to Another Database:	SFARIGene; denovo-db

Sequences Top

Nucleotide Sequence
Protein Sequence

>RFC3|5983|nucleotide
ATGAGCCTCTGGGTGGACAAGTATCGGCCCTGCTCCTTGGGACGGCTGGACTATCACAAGGAGCAGGCGGCCCAGCTGCGGAACCTGGTGCAGTGTGGTGACTTT
CCTCATCTGTTAGTGTACGGACCATCAGGTGCTGGAAAAAAGACAAGAATTATGTGTATTCTACGTGAACTTTATGGTGTTGGAGTGGAAAAATTGAGAATTGAA
CATCAGACCATCACAACTCCATCTAAAAAAAAAATTGAAATTAGCACCATTGCAAGTAACTACCACCTTGAAGTTAATCCTAGTGATGCTGGAAATAGTGACCGA
GTAGTCATTCAGGAGATGTTGAAAACAGTGGCACAATCACAACAACTTGAAACAAACTCTCAAAGGGATTTTAAAGTGGTATTATTGACAGAAGTTGACAAACTC
ACCAAAGATGCTCAGCATGCCTTGCGAAGAACCATGGAAAAATATATGTCTACCTGCAGATTGATCTTGTGCTGCAATTCTACATCTAAAGTGATCCCACCTATT
CGTAGTAGGTGCTTGGCGGTTCGTGTGCCTGCTCCCAGCATTGAAGATATTTGCCACGTGTTATCTACTGTGTGTAAGAAGGAAGGTCTGAATCTTCCTTCACAA
CTGGCTCATAGACTTGCAGAGAAGTCTTGTAGAAATCTCAGAAAAGCCCTGCTTATGTGTGAAGCCTGCAGAGTGCAACAATATCCTTTTACTGCAGATCAAGAA
ATCCCTGAGACAGATTGGGAGGTGTATCTGAGGGAGACTGCAAATGCTATTGTCAGTCAGCAAACTCCACAAAGGCTCCTTGAAGTTCGTGGAAGGCTGTATGAG
CTTCTAACTCATTGTATTCCTCCTGAGATAATAATGAAGGGCCTTCTCTCAGAACTGTTACATAATTGTGATGGACAACTGAAAGGGGAGGTGGCACAAATGGCA
GCTTACTATGAGCATCGTCTACAGCTGGGTAGCAAAGCCATTTATCACTTGGAAGCGTTTGTGGCCAAATTCATGGCACTTTATAAGAAGTTCATGGAGGATGGA
TTGGAAGGCATGATGTTCTGA
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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)	0 (0)	0 (0)	0 (0)	0 (1)	0 (0)	0 (3)

Syndromic Autism Gene Top

Genome-Wide Association Studies (By Ethnic Group) Top

Family Based Association Studies: 1

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

CNV Studies Top

Reference	Source	Method	ADI-R	ADOS	Diagnosis	Family				Individual
Reference	Source	Method	ADI-R	ADOS	Diagnosis	Total	Simplex	Multiplex	Control	Affected	Control	Total
Smith, 2002	-	FISH			autism	-	-	-	-	1	-	1

Linkage Studies Top

AutismKB 2.0

Evidence Details for RFC3