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_2 | Replication | Illumina HumanHap 550K BeadChip | 110 | - (-) |  |  | AS | - (3-21) |
- >70 | ||
| Salyakina, 2010_1 | Discovery | Illumina HumanHap 550K BeadChip | 124 | - (-) | | | 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