AutismKB 2.0

Evidence Details for RGNEF


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Basic Information Top
Gene Symbol:RGNEF ( DKFZp686P12164,FLJ21817,KIAA1998,RIP2,p190RHOGEF )
Gene Full Name: -
Band: 5q13.2
Quick LinksEntrez ID:64283; OMIM: 612790; Uniprot ID:RGNEF_HUMAN; ENSEMBL ID: ENSG00000214944; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RGNEF|64283|nucleotide
ATGGAGTTGAGCTGCAGCGAAGCACCTCTTTACGGGCAGATGATGATCTATGCGAAGTTTGACAAAAATGTGTATCTTCCTGAAGATGCTGAGTTTTACTTTACT
TATGACGGATCTCATCAGCGACATGTCATGATTGCAGAGCGCATCGAGGATAACGTTCTCCAGTCCAGCGTCCCAGGCCATGGGCTTCAGGAGACGGTGACGGTA
TCTGTGTGCCTCTGCTCGGAAGGTTACTCTCCGGTGACCATGGGCTCTGGCTCAGTGACCTACGTGGACAACATGGCTTGCAGGCTGGCTCGTCTGCTGGTGACG
CAGGCCAATCGCCTCACAGCCTGCAGCCACCAGACCCTGCTGACCCCATTTGCCTTGACGGCAGGAGCACTGCCTGCCTTGGATGAGGAGCTCGTGCTGGCTCTG
ACCCATCTGGAATTGCCTCTAGAGTGGACTGTGTTGGGAAGTTCTTCACTTGAAGTATCTTCTCACAGAGAATCTCTTCTACACCTGGCTATGAGATGGGGCCTG
GCTAAACTTTCCCAGTTCTTCTTGTGTCTCCCGGGGGGAGTCCAGGCCTTGGCTTTACCCAACGAAGAGGGTGCCACACCATTAGACTTAGCTTTACGTGAAGGA
CACTCCAAGCTGGTGGAAGACGTCACAAATTTTCAGGGCAGATGGTCCCCAAGCTTCTCCCGAGTGCAGCTCAGTGAAGAAGCCTCCTTGCATTACATTCACTCA
TCGGAAACGCTGACCCTGACCCTGAACCACACAGCCGAGCATTTGTTGGAGGCAGATATTAAACTCTTCCGGAAATACTTTTGGGATAGAGCCTTTCTTGTCAAG
GCCTTTGAGCCAGAAGCCAGGCCAGAGGAAAGAACAGCTATGCCCTCCAGCGGTGCAGAAACTGAAGAAGAGATTAAGAATTCAGTGTCCAGCAGATCAGCAGCT
GAAAAGGAAGATATAAAGCGTGTCAAAAGCCTGGTGGTTCAACACAATGAACATGAAGACCAGCACAGCCTAGATTTGGATCGCTCCTTCGATATCCTAAAAAAA
TCCAAGCCGCCCTCGACATTGCTTGCTGCAGGCCGGCTTTCAGACATGCTGAATGGAGGTGATGAAGTCTACGCTAACTGTATGGTGATTGATCAGGTTGGTGAT
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>RGNEF|64283|protein
MELSCSEAPLYGQMMIYAKFDKNVYLPEDAEFYFTYDGSHQRHVMIAERIEDNVLQSSVPGHGLQETVTVSVCLCSEGYSPVTMGSGSVTYVDNMACRLARLLVT
QANRLTACSHQTLLTPFALTAGALPALDEELVLALTHLELPLEWTVLGSSSLEVSSHRESLLHLAMRWGLAKLSQFFLCLPGGVQALALPNEEGATPLDLALREG
HSKLVEDVTNFQGRWSPSFSRVQLSEEASLHYIHSSETLTLTLNHTAEHLLEADIKLFRKYFWDRAFLVKAFEPEARPEERTAMPSSGAETEEEIKNSVSSRSAA
EKEDIKRVKSLVVQHNEHEDQHSLDLDRSFDILKKSKPPSTLLAAGRLSDMLNGGDEVYANCMVIDQVGDLDISYINIEGITATTSPESRGCTLWPQSSKHTLPT
ETSPSVYPLSENVEGTAHTEAQQSFMSPSSSCASNLNLSFGWHGFEKEQSHLKKRSSSLDALDADSEGEGHSEPSHICYTPGSQSSSRTGIPSGDELDSFETNTE
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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 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (2)
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
Linkage Studies Top