Evidence Details for RNF135
Basic Information Top
| Gene Symbol: | RNF135 ( MGC13061,REUL,Riplet ) |
|---|---|
| Gene Full Name: | ring finger protein 135 |
| Band: | 17q11.2 |
| Quick Links | Entrez ID:84282; OMIM: 611358; Uniprot ID:RN135_HUMAN; ENSEMBL ID: ENSG00000181481; HGNC ID: 21158 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>RNF135|84282|nucleotide
ATGGCGGGCCTGGGCCTGGGCTCCGCCGTTCCCGTGTGGCTGGCCGAGGACGACCTCGGCTGCATCATCTGCCAGGGGCTGCTGGACTGGCCCGCCACGCTGCCC
TGCGGCCACAGCTTCTGCCGCCACTGCCTGGAGGCCCTGTGGGGCGCCCGCGACGCCCGCCGCTGGGCCTGCCCCACTTGCCGCCAGGGCGCCGCGCAGCAGCCG
CACCTGCGGAAGAACACGCTACTGCAGGACCTGGCCGACAAGTACCGCCGCGCCGCACGCGAGATACAGGCGGGCTCCGACCCTGCCCACTGCCCCTGCCCGGGC
TCCAGTTCCCTCTCCAGCGCGGCCGCGAGGCCCCGGCGCCGCCCGGAACTGCAGCGGGTGGCAGTAGAGAAGAGCATCACAGAAGTTGCTCAGGAGCTGACAGAG
CTGGTGGAACATCTTGTAGACATTGTCAGAAGCCTGCAGAATCAGAGGCCCCTATCAGAATCTGGACCAGACAACGAACTGAGCATCCTGGGCAAGGCTTTTTCT
TCTGGGGTGGATCTTTCCATGGCTTCTCCAAAGCTGGTGACTTCCGACACAGCTGCAGGGAAAATCAGAGATATTCTCCATGACCTAGAAGAAATTCAGGAAAAA
TTACAAGAAAGCGTCACCTGGAAAGAGGCTCCTGAAGCACAAATGCAGGGTTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCACTGCAGCCTCGATCTCT
CAGGCTCAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGGGCCA
TCCATCCAACCTTTAACTTGA
Show »
ATGGCGGGCCTGGGCCTGGGCTCCGCCGTTCCCGTGTGGCTGGCCGAGGACGACCTCGGCTGCATCATCTGCCAGGGGCTGCTGGACTGGCCCGCCACGCTGCCC
TGCGGCCACAGCTTCTGCCGCCACTGCCTGGAGGCCCTGTGGGGCGCCCGCGACGCCCGCCGCTGGGCCTGCCCCACTTGCCGCCAGGGCGCCGCGCAGCAGCCG
CACCTGCGGAAGAACACGCTACTGCAGGACCTGGCCGACAAGTACCGCCGCGCCGCACGCGAGATACAGGCGGGCTCCGACCCTGCCCACTGCCCCTGCCCGGGC
TCCAGTTCCCTCTCCAGCGCGGCCGCGAGGCCCCGGCGCCGCCCGGAACTGCAGCGGGTGGCAGTAGAGAAGAGCATCACAGAAGTTGCTCAGGAGCTGACAGAG
CTGGTGGAACATCTTGTAGACATTGTCAGAAGCCTGCAGAATCAGAGGCCCCTATCAGAATCTGGACCAGACAACGAACTGAGCATCCTGGGCAAGGCTTTTTCT
TCTGGGGTGGATCTTTCCATGGCTTCTCCAAAGCTGGTGACTTCCGACACAGCTGCAGGGAAAATCAGAGATATTCTCCATGACCTAGAAGAAATTCAGGAAAAA
TTACAAGAAAGCGTCACCTGGAAAGAGGCTCCTGAAGCACAAATGCAGGGTTCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCACTGCAGCCTCGATCTCT
CAGGCTCAGGAGAACTCCTGGAAGCCCCGTCTTCCTCCTCATGCCCATTGCCTGACCAGAGCCACCCTGCACTCAGGAGAGCTTCTCGGTTTGCTCAGTGGGCCA
TCCATCCAACCTTTAACTTGA
Show »
>RNF135|84282|protein
MAGLGLGSAVPVWLAEDDLGCIICQGLLDWPATLPCGHSFCRHCLEALWGARDARRWACPTCRQGAAQQPHLRKNTLLQDLADKYRRAAREIQAGSDPAHCPCPG
SSSLSSAAARPRRRPELQRVAVEKSITEVAQELTELVEHLVDIVRSLQNQRPLSESGPDNELSILGKAFSSGVDLSMASPKLVTSDTAAGKIRDILHDLEEIQEK
LQESVTWKEAPEAQMQGSLLPRLECSGTITAASISQAQENSWKPRLPPHAHCLTRATLHSGELLGLLSGPSIQPLT
Show »
MAGLGLGSAVPVWLAEDDLGCIICQGLLDWPATLPCGHSFCRHCLEALWGARDARRWACPTCRQGAAQQPHLRKNTLLQDLADKYRRAAREIQAGSDPAHCPCPG
SSSLSSAAARPRRRPELQRVAVEKSITEVAQELTELVEHLVDIVRSLQNQRPLSESGPDNELSILGKAFSSGVDLSMASPKLVTSDTAAGKIRDILHDLEEIQEK
LQESVTWKEAPEAQMQGSLLPRLECSGTITAASISQAQENSWKPRLPPHAHCLTRATLHSGELLGLLSGPSIQPLT
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) | Yes | 0 (0) | 0 (0) | 2 (6) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 6 (8) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | AD |
|---|---|
| OMIM | Overgrowth syndrome (611358) |
| Description | Mutations in RNF135, which is within the NF1 microdeletion region, cause overgrowth, ID, and dysmorphic features, demonstrating that haploinsufficiency of RNF135 contributes to the phenotype of NF1 microdeletion cases |
| Reference(s) | 17632510; |
| Level | Level 3: The gene has been reported in more than one family with ASD/autistic features, but the disorder hasn't been a generally acknowledged ASD related disorder. |
Genome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies Top