AutismKB 2.0

Evidence Details for RFWD2


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Basic Information Top
Gene Symbol:RFWD2 ( COP1,FLJ10416,RNF200 )
Gene Full Name: ring finger and WD repeat domain 2
Band: 1q25.1-q25.2
Quick LinksEntrez ID:64326; OMIM: 608067; Uniprot ID:RFWD2_HUMAN; ENSEMBL ID: ENSG00000143207; HGNC ID: 17440
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RFWD2|64326|nucleotide
ATGTCTGGTAGCCGCCAGGCCGGGTCGGGCTCCGCTGGGACAAGCCCCGGGTCCTCGGCGGCCTCCTCGGTGACTTCCGCCTCCTCGTCTTTATCCTCTTCCCCG
TCGCCGCCTTCCGTGGCGGTTTCGGCGGCAGCGCTGGTGTCCGGCGGGGTGGCCCAGGCCGCCGGCTCGGGCGGCCTCGGGGGCCCGGTGCGGCCTGTGTTGGTG
GCGCCCGCCGTATCGGGTAGCGGCGGCGGGGCGGTGTCCACGGGCCTGTCCCGGCACAGCTGCGCGGCCAGGCCCAGCGCCGGCGTAGGAGGCAGCAGCTCCAGC
CTAGGCAGCGGCAGCAGGAAGCGACCTCTCCTCGCCCCCCTCTGCAACGGGCTCATCAACTCCTACGAGGACAAAAGCAACGACTTCGTATGCCCCATCTGCTTT
GATATGATTGAAGAAGCATACATGACAAAATGTGGCCACAGCTTTTGCTACAAGTGTATTCATCAGAGTTTGGAGGACAATAATAGATGTCCCAAGTGTAACTAT
GTTGTGGACAATATTGACCATCTGTATCCTAATTTCTTGGTGAATGAACTCATTCTTAAACAGAAGCAAAGATTTGAGGAAAAGAGGTTCAAATTGGACCACTCA
AATGGCCACAGGTGGCAGATATTTCAAGATTGGTTGGGAACTGACCAAGATAACCTTGATTTGGCCAATGTCAATCTTATGTTGGAGTTACTAGTGCAGAAGAAG
AAACAACTGGAAGCAGAATCACATGCAGCCCAACTACAGATTCTTATGGAATTCCTCAAGGTTGCAAGAAGAAATAAGAGAGAGGAAATGAGTGGCTTATACTCT
CCTGTCAGTGAGGATAGCACAGTGCCTCAATTTGAAGCTCCTTCTCCATCACACAGTAGTATTATTGATTCCACAGAATACAGCCAACCTCCAGGTTTCAGTGGC
AGTTCTCAGACAAAGAAACAGCCTTGGTATAATAGCACGTTAGCATCAAGACGAAAACGACTTACTGCTCATTTTGAAGACTTGGAGCAGTGTTACTTTTCTACA
AGGATGTCTCGTATCTCAGATGACAGTCGAACTGCAAGCCAGTTGGATGAATTTCAGGAATGCTTGTCCAAGTTTACTCGATATAATTCAGTACGACCTTTAGCC
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>RFWD2|64326|protein
MSGSRQAGSGSAGTSPGSSAASSVTSASSSLSSSPSPPSVAVSAAALVSGGVAQAAGSGGLGGPVRPVLVAPAVSGSGGGAVSTGLSRHSCAARPSAGVGGSSSS
LGSGSRKRPLLAPLCNGLINSYEDKSNDFVCPICFDMIEEAYMTKCGHSFCYKCIHQSLEDNNRCPKCNYVVDNIDHLYPNFLVNELILKQKQRFEEKRFKLDHS
NGHRWQIFQDWLGTDQDNLDLANVNLMLELLVQKKKQLEAESHAAQLQILMEFLKVARRNKREEMSGLYSPVSEDSTVPQFEAPSPSHSSIIDSTEYSQPPGFSG
SSQTKKQPWYNSTLASRRKRLTAHFEDLEQCYFSTRMSRISDDSRTASQLDEFQECLSKFTRYNSVRPLATLSYASDLYNGSSIVSSIEFDRDCDYFAIAGVTKK
IKVYEYDTVIQDAVDIHYPENEMTCNSKISCISWSSYHKNLLASSDYEGTVILWDGFTGQRSKVYQEHEKRCWSVDFNLMDPKLLASGSDDAKVKLWSTNLDNSV
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top