RO60

Ro60, Y RNA binding protein

Basic information

Region (hg38): 1:193059454-193091777

Previous symbols: [ "SSA2", "TROVE2" ]

Links

ENSG00000116747NCBI:6738OMIM:600063HGNC:11313Uniprot:P10155AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RO60 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RO60 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
1
clinvar
1
missense
52
clinvar
52
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
1
1
non coding
0
Total 0 0 52 0 1

Variants in RO60

This is a list of pathogenic ClinVar variants found in the RO60 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
1-193069078-G-A not specified Uncertain significance (Feb 23, 2023)2488792
1-193069139-G-C not specified Uncertain significance (Dec 28, 2023)3155580
1-193069140-A-T not specified Uncertain significance (Dec 28, 2023)3155581
1-193069188-C-T not specified Uncertain significance (Jan 23, 2024)3155566
1-193069211-T-A not specified Uncertain significance (Dec 30, 2023)3155572
1-193069322-G-C not specified Uncertain significance (Mar 27, 2024)3314974
1-193069364-G-A not specified Uncertain significance (Dec 13, 2022)3155573
1-193069427-C-G not specified Uncertain significance (Jan 24, 2023)2478758
1-193069456-T-G not specified Uncertain significance (May 03, 2023)2543138
1-193069496-C-T not specified Uncertain significance (Aug 19, 2024)3434657
1-193069512-C-T not specified Uncertain significance (Dec 04, 2024)3434655
1-193069520-T-A not specified Uncertain significance (Aug 14, 2024)3434665
1-193069616-C-A not specified Uncertain significance (May 20, 2024)3314972
1-193069622-C-G not specified Uncertain significance (Dec 04, 2024)3155574
1-193069625-T-G not specified Uncertain significance (Mar 15, 2024)3314973
1-193075828-A-G not specified Uncertain significance (Aug 02, 2023)2593944
1-193075835-C-A not specified Uncertain significance (Aug 27, 2024)3434667
1-193075849-A-G not specified Uncertain significance (Apr 29, 2024)3314978
1-193075883-A-C not specified Uncertain significance (Dec 14, 2023)3155575
1-193075949-G-T not specified Uncertain significance (Aug 26, 2022)3155577
1-193075954-A-G not specified Uncertain significance (Nov 28, 2024)3434663
1-193075985-A-G not specified Uncertain significance (Dec 15, 2023)3155578
1-193075998-A-C not specified Uncertain significance (Apr 07, 2023)2560840
1-193076020-A-C not specified Uncertain significance (Mar 19, 2024)3314976
1-193076509-G-A Benign (May 09, 2018)780292

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RO60protein_codingprotein_codingENST00000367446 832356
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.5830.4171247500331247830.000132
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.052402900.8270.00001473533
Missense in Polyphen6399.8050.631231205
Synonymous0.7638897.60.9020.000004801018
Loss of Function3.65524.50.2040.00000126320

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0007320.000732
Ashkenazi Jewish0.000.00
East Asian0.0002810.000278
Finnish0.000.00
European (Non-Finnish)0.00005310.0000353
Middle Eastern0.0002810.000278
South Asian0.00003370.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: RNA-binding protein that binds to misfolded non-coding RNAs, pre-5S rRNA, and several small cytoplasmic RNA molecules known as Y RNAs. May stabilize some of these RNAs and protect them from degradation. {ECO:0000269|PubMed:18056422}.;
Pathway
Systemic lupus erythematosus - Homo sapiens (human) (Consensus)

Intolerance Scores

loftool
0.264
rvis_EVS
-0.34
rvis_percentile_EVS
30.56

Haploinsufficiency Scores

pHI
0.0999
hipred
Y
hipred_score
0.756
ghis
0.641

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.978

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Trove2
Phenotype
integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); cellular phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); renal/urinary system phenotype; immune system phenotype;

Gene ontology

Biological process
immune system development;transcription by RNA polymerase III;smoothened signaling pathway;response to UV;cilium assembly
Cellular component
nucleoplasm;cytosol;ribonucleoprotein complex
Molecular function
RNA binding;U2 snRNA binding;metal ion binding