Evidence Details for RNF111
Basic Information Top
| Gene Symbol: | RNF111 ( ARK,DKFZp313E0731,DKFZp686H1966,DKFZp761D081,FLJ38008 ) |
|---|---|
| Gene Full Name: | ring finger protein 111 |
| Band: | 15q22.1-q22.2 |
| Quick Links | Entrez ID:54778; OMIM: 605840; Uniprot ID:RN111_HUMAN; ENSEMBL ID: ENSG00000157450; HGNC ID: 17384 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>RNF111|54778|nucleotide
ATGTCTCAATGGACTCCTGAATATAACGAGCTCTACACCTTAAAAGTGGATATGAAGAGTGAGATTCCTTCTGATGCACCAAAGACACAGGAGAGTCTGAAAGGG
ATCCTTTTGCATCCAGAGCCCATTGGGGCAGCCAAAAGTTTTCCTGCAGGAGTTGAGATGATTAATAGTAAAGTGGGGAATGAATTCTCTCACCTGTGTGATGAT
TCTCAAAAGCAAGAGAAGGAAATGAATGGTAACCAGCAAGAACAAGAAAAAAGTCTCGTTGTGAGGAAAAAACGCAAAAGCCAGCAGGCTGGCCCTTCGTATGTG
CAGAATTGTGTTAAAGAAAACCAGGGAATATTAGGACTGAGGCAACACCTAGGGACACCAAGTGATGAAGATAATGATTCCTCTTTTAGTGATTGTCTTTCTTCT
CCTTCATCTAGTCTGCATTTTGGAGATTCTGATACTGTGACTTCAGATGAGGATAAAGAAGTCTCTGTAAGACATTCCCAGACCATTTTGAATGCTAAAAGTAGA
AGCCATAGTGCACGGTCTCATAAGTGGCCTCGGACTGAGACAGAATCTGTATCGGGATTGTTAATGAAAAGACCCTGTTTACATGGCAGTTCGTTACGGAGACTT
CCATGCAGAAAGAGATTTGTAAAAAATAATTCCTCACAGAGGACACAGAAACAAAAAGAGAGGATATTAATGCAGAGGAAGAAACGAGAAGTGTTAGCTCGAAGA
AAATATGCCTTGCTACCTAGTTCTAGTAGTTCCAGTGAGAATGACCTCAGCAGTGAATCCTCTTCTAGCTCATCAACTGAAGGAGAAGAAGATTTGTTTGTTTCT
GCCAGTGAAAACCACCAAAACAATCCAGCTGTTCCCTCAGGAAGTATTGATGAAGATGTTGTGGTGATAGAAGCTTCCTCCACTCCCCAGGTTACTGCCAATGAA
GAAATTAATGTTACCTCAACTGACAGTGAAGTGGAGATTGTAACAGTTGGAGAAAGCTATCGGTCTCGTTCAACCCTTGGACACTCCAGATCTCATTGGAGCCAG
GGTTCCAGTTCTCATGCAAGTCGGCCACAGGAGCCACGGAACCGCAGTAGGATTTCTACTGTTATACAGCCCTTGAGGCAGAATGCAGCAGAAGTTGTGGACCTT
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ATGTCTCAATGGACTCCTGAATATAACGAGCTCTACACCTTAAAAGTGGATATGAAGAGTGAGATTCCTTCTGATGCACCAAAGACACAGGAGAGTCTGAAAGGG
ATCCTTTTGCATCCAGAGCCCATTGGGGCAGCCAAAAGTTTTCCTGCAGGAGTTGAGATGATTAATAGTAAAGTGGGGAATGAATTCTCTCACCTGTGTGATGAT
TCTCAAAAGCAAGAGAAGGAAATGAATGGTAACCAGCAAGAACAAGAAAAAAGTCTCGTTGTGAGGAAAAAACGCAAAAGCCAGCAGGCTGGCCCTTCGTATGTG
CAGAATTGTGTTAAAGAAAACCAGGGAATATTAGGACTGAGGCAACACCTAGGGACACCAAGTGATGAAGATAATGATTCCTCTTTTAGTGATTGTCTTTCTTCT
CCTTCATCTAGTCTGCATTTTGGAGATTCTGATACTGTGACTTCAGATGAGGATAAAGAAGTCTCTGTAAGACATTCCCAGACCATTTTGAATGCTAAAAGTAGA
AGCCATAGTGCACGGTCTCATAAGTGGCCTCGGACTGAGACAGAATCTGTATCGGGATTGTTAATGAAAAGACCCTGTTTACATGGCAGTTCGTTACGGAGACTT
CCATGCAGAAAGAGATTTGTAAAAAATAATTCCTCACAGAGGACACAGAAACAAAAAGAGAGGATATTAATGCAGAGGAAGAAACGAGAAGTGTTAGCTCGAAGA
AAATATGCCTTGCTACCTAGTTCTAGTAGTTCCAGTGAGAATGACCTCAGCAGTGAATCCTCTTCTAGCTCATCAACTGAAGGAGAAGAAGATTTGTTTGTTTCT
GCCAGTGAAAACCACCAAAACAATCCAGCTGTTCCCTCAGGAAGTATTGATGAAGATGTTGTGGTGATAGAAGCTTCCTCCACTCCCCAGGTTACTGCCAATGAA
GAAATTAATGTTACCTCAACTGACAGTGAAGTGGAGATTGTAACAGTTGGAGAAAGCTATCGGTCTCGTTCAACCCTTGGACACTCCAGATCTCATTGGAGCCAG
GGTTCCAGTTCTCATGCAAGTCGGCCACAGGAGCCACGGAACCGCAGTAGGATTTCTACTGTTATACAGCCCTTGAGGCAGAATGCAGCAGAAGTTGTGGACCTT
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>RNF111|54778|protein
MSQWTPEYNELYTLKVDMKSEIPSDAPKTQESLKGILLHPEPIGAAKSFPAGVEMINSKVGNEFSHLCDDSQKQEKEMNGNQQEQEKSLVVRKKRKSQQAGPSYV
QNCVKENQGILGLRQHLGTPSDEDNDSSFSDCLSSPSSSLHFGDSDTVTSDEDKEVSVRHSQTILNAKSRSHSARSHKWPRTETESVSGLLMKRPCLHGSSLRRL
PCRKRFVKNNSSQRTQKQKERILMQRKKREVLARRKYALLPSSSSSSENDLSSESSSSSSTEGEEDLFVSASENHQNNPAVPSGSIDEDVVVIEASSTPQVTANE
EINVTSTDSEVEIVTVGESYRSRSTLGHSRSHWSQGSSSHASRPQEPRNRSRISTVIQPLRQNAAEVVDLTVDEDEPTVVPTTSARMESQATSASINNSNPSTSE
QASDTASAVTSSQPSTVSETSATLTSNSTTGTSIGDDSRRTTSSAVTETGPPAMPRLPSCCPQHSPCGGSSQNHHALGHPHTSCFQQHGHHFQHHHHHHHTPHPA
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MSQWTPEYNELYTLKVDMKSEIPSDAPKTQESLKGILLHPEPIGAAKSFPAGVEMINSKVGNEFSHLCDDSQKQEKEMNGNQQEQEKSLVVRKKRKSQQAGPSYV
QNCVKENQGILGLRQHLGTPSDEDNDSSFSDCLSSPSSSLHFGDSDTVTSDEDKEVSVRHSQTILNAKSRSHSARSHKWPRTETESVSGLLMKRPCLHGSSLRRL
PCRKRFVKNNSSQRTQKQKERILMQRKKREVLARRKYALLPSSSSSSENDLSSESSSSSSTEGEEDLFVSASENHQNNPAVPSGSIDEDVVVIEASSTPQVTANE
EINVTSTDSEVEIVTVGESYRSRSTLGHSRSHWSQGSSSHASRPQEPRNRSRISTVIQPLRQNAAEVVDLTVDEDEPTVVPTTSARMESQATSASINNSNPSTSE
QASDTASAVTSSQPSTVSETSATLTSNSTTGTSIGDDSRRTTSSAVTETGPPAMPRLPSCCPQHSPCGGSSQNHHALGHPHTSCFQQHGHHFQHHHHHHHTPHPA
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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 (3) | 1 (5) | 1 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (9) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 3
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Salyakina, 2010_1 | Discovery | Illumina HumanHap 550K BeadChip | 124 | - (-) |  |  | AS | - (3-21) |
- >70 | ||
| Salyakina, 2010_2 | Replication | Illumina HumanHap 550K BeadChip | 110 | - (-) | | | AS | - (3-21) |
- >70 | ||
| 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| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Smith, 2000 | - | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Wassink, 2001 | USA | Chromosomal analysis of G-band | | | autism | - | - | - | - | 278 | - | 278 |
| Szatmari, 2007 | Europe, North America | SNP microarray | | | ASD | 1491 | - | - | - | - | - | 0 |
| Christian, 2008 | USA | aCGH | | | ASD | 397 | 35 | 362 | - | 397 | 372 | 769 |
| Bucan, 2009 | USA | SNP microarray | | | autism, ASD | 912 | - | 912 | - | - | 1488 | 1488 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Allen-Brady, 2010 | USA | SNP-based genomic screen | | | ASD | 40 | - | 40 | - | 192 | 461 | 653 |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top 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.