Evidence Details for RGNEF
Basic Information Top
| Gene Symbol: | RGNEF ( DKFZp686P12164,FLJ21817,KIAA1998,RIP2,p190RHOGEF ) |
|---|---|
| Gene Full Name: | - |
| Band: | 5q13.2 |
| Quick Links | Entrez 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
Show »
ATGGAGTTGAGCTGCAGCGAAGCACCTCTTTACGGGCAGATGATGATCTATGCGAAGTTTGACAAAAATGTGTATCTTCCTGAAGATGCTGAGTTTTACTTTACT
TATGACGGATCTCATCAGCGACATGTCATGATTGCAGAGCGCATCGAGGATAACGTTCTCCAGTCCAGCGTCCCAGGCCATGGGCTTCAGGAGACGGTGACGGTA
TCTGTGTGCCTCTGCTCGGAAGGTTACTCTCCGGTGACCATGGGCTCTGGCTCAGTGACCTACGTGGACAACATGGCTTGCAGGCTGGCTCGTCTGCTGGTGACG
CAGGCCAATCGCCTCACAGCCTGCAGCCACCAGACCCTGCTGACCCCATTTGCCTTGACGGCAGGAGCACTGCCTGCCTTGGATGAGGAGCTCGTGCTGGCTCTG
ACCCATCTGGAATTGCCTCTAGAGTGGACTGTGTTGGGAAGTTCTTCACTTGAAGTATCTTCTCACAGAGAATCTCTTCTACACCTGGCTATGAGATGGGGCCTG
GCTAAACTTTCCCAGTTCTTCTTGTGTCTCCCGGGGGGAGTCCAGGCCTTGGCTTTACCCAACGAAGAGGGTGCCACACCATTAGACTTAGCTTTACGTGAAGGA
CACTCCAAGCTGGTGGAAGACGTCACAAATTTTCAGGGCAGATGGTCCCCAAGCTTCTCCCGAGTGCAGCTCAGTGAAGAAGCCTCCTTGCATTACATTCACTCA
TCGGAAACGCTGACCCTGACCCTGAACCACACAGCCGAGCATTTGTTGGAGGCAGATATTAAACTCTTCCGGAAATACTTTTGGGATAGAGCCTTTCTTGTCAAG
GCCTTTGAGCCAGAAGCCAGGCCAGAGGAAAGAACAGCTATGCCCTCCAGCGGTGCAGAAACTGAAGAAGAGATTAAGAATTCAGTGTCCAGCAGATCAGCAGCT
GAAAAGGAAGATATAAAGCGTGTCAAAAGCCTGGTGGTTCAACACAATGAACATGAAGACCAGCACAGCCTAGATTTGGATCGCTCCTTCGATATCCTAAAAAAA
TCCAAGCCGCCCTCGACATTGCTTGCTGCAGGCCGGCTTTCAGACATGCTGAATGGAGGTGATGAAGTCTACGCTAACTGTATGGTGATTGATCAGGTTGGTGAT
Show »
>RGNEF|64283|protein
MELSCSEAPLYGQMMIYAKFDKNVYLPEDAEFYFTYDGSHQRHVMIAERIEDNVLQSSVPGHGLQETVTVSVCLCSEGYSPVTMGSGSVTYVDNMACRLARLLVT
QANRLTACSHQTLLTPFALTAGALPALDEELVLALTHLELPLEWTVLGSSSLEVSSHRESLLHLAMRWGLAKLSQFFLCLPGGVQALALPNEEGATPLDLALREG
HSKLVEDVTNFQGRWSPSFSRVQLSEEASLHYIHSSETLTLTLNHTAEHLLEADIKLFRKYFWDRAFLVKAFEPEARPEERTAMPSSGAETEEEIKNSVSSRSAA
EKEDIKRVKSLVVQHNEHEDQHSLDLDRSFDILKKSKPPSTLLAAGRLSDMLNGGDEVYANCMVIDQVGDLDISYINIEGITATTSPESRGCTLWPQSSKHTLPT
ETSPSVYPLSENVEGTAHTEAQQSFMSPSSSCASNLNLSFGWHGFEKEQSHLKKRSSSLDALDADSEGEGHSEPSHICYTPGSQSSSRTGIPSGDELDSFETNTE
Show »
MELSCSEAPLYGQMMIYAKFDKNVYLPEDAEFYFTYDGSHQRHVMIAERIEDNVLQSSVPGHGLQETVTVSVCLCSEGYSPVTMGSGSVTYVDNMACRLARLLVT
QANRLTACSHQTLLTPFALTAGALPALDEELVLALTHLELPLEWTVLGSSSLEVSSHRESLLHLAMRWGLAKLSQFFLCLPGGVQALALPNEEGATPLDLALREG
HSKLVEDVTNFQGRWSPSFSRVQLSEEASLHYIHSSETLTLTLNHTAEHLLEADIKLFRKYFWDRAFLVKAFEPEARPEERTAMPSSGAETEEEIKNSVSSRSAA
EKEDIKRVKSLVVQHNEHEDQHSLDLDRSFDILKKSKPPSTLLAAGRLSDMLNGGDEVYANCMVIDQVGDLDISYINIEGITATTSPESRGCTLWPQSSKHTLPT
ETSPSVYPLSENVEGTAHTEAQQSFMSPSSSCASNLNLSFGWHGFEKEQSHLKKRSSSLDALDADSEGEGHSEPSHICYTPGSQSSSRTGIPSGDELDSFETNTE
Show »
Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| 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 TopGenome-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 TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Cukier HN, 2014 | - | Illumina HiSeq 2000 | | | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
Low Scale Gene Studies TopContact 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.