Entry Detail

General Information

Database ID: LDA0018750
Species: Homo sapiens
Confidence Score: 0.731059
Contents: >> ncRNA Information
>> ncRNA Association Statistics
>> Disease Information
>> Disease Association Statistics
>> Evidence Support
>> Reference
Causality: Unknown
Clinical Significance: Unknown

 


ncRNA Information

Reference Genome Note: GRCh38 for human lncRNAs; GRCm39 for mouse lncRNAs; mRatBN7.2 for rat lncRNAs; hg19 for human circRNAs; mm9 for mouse circRNAs.

ncRNA Symbol:RLIM
Full Name:ring finger protein, LIM domain interacting
Category:LncRNA
Species:Homo sapiens
Synonyms:MRX61|NY-REN-43|RNF12|TOKAS
Chromosome:X
Strand:-
Coordinate:
Start Site(bp):74582976End Site(bp):74614624
External Links:
Ensembl ID:ENSG00000131263
Ensembl Transcript ID:N/A
Entrez Gene:51132.0
NONCODE ID:N/A
RefSeq Accession:N/A

 

ncRNA Association Statistics

Total Associated Disease Number:2   
More Information
Causal Disease Number:0
Network:
Top Causal Diseases:
More Information

 

 

Disease Information

 Disease OntologyMeSH
Disease ID:DOID:0112042
Disease Name:Tonne-Kalscheuer syndrome
Category:Disease Ontology
Type:Musculoskeletal Diseases
Define:A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in RLIM on chromosome Xq13.2.
Alias:

 

Disease Association Statistics

Total Associated ncRNA Number:2   
More Information
Causal ncRNA Number:0
Network:
Top Causal ncRNAs:
More Information

 

Evidence Support

Strong Evidence:Transfection//Immunoblotting//qRT-PCR//Cell Proliferation Assay//IF
Weak Evidence:

 

Reference

[1] PubMed ID:33953269
Disease Name:Tonne-Kalscheuer syndrome
Sample:embryonic stem cell model
Dysfunction Pattern:Mutation(RLIM p.(Tyr421Cys) variant)
Validated Method:Transfection//Immunoblotting//qRT-PCR//Cell Proliferation Assay//IF
Description: We show that the RLIM p.(Tyr421Cys) variant disrupts both expression and function of the protein in an embryonic stem cell model. RLIM p.(Tyr421Cys) is correctly localised to the nucleus, but is readily degraded by the proteasome. The RLIM p.(Tyr421Cys) variant also displays significantly impaired E3 ubiquitin ligase activity, which interferes with RLIM function in Xist long-non-coding RNA induction that initiates imprinted X-chromosome inactivation.
Causality:No
Causal Description:
Clinical-realted Application: