RNF187

ring finger protein 187, the group of Ring finger proteins

Basic information

Region (hg38): 1:228487382-228499899

Links

ENSG00000168159 ∙ NCBI:149603 ∙ OMIM:613754 ∙ HGNC:27146 ∙ Uniprot:Q5TA31 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RNF187 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF187 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						0
missense			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	0	0

Variants in RNF187

This is a list of pathogenic ClinVar variants found in the RNF187 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-228487495-C-T		not specified	Uncertain significance (Aug 02, 2021)
1-228487508-C-T		not specified	Uncertain significance (Jun 01, 2023)
1-228487547-G-C		not specified	Uncertain significance (Jun 11, 2024)
1-228487556-T-G		not specified	Uncertain significance (Sep 27, 2021)
1-228487624-C-G		not specified	Uncertain significance (Nov 08, 2022)
1-228487783-G-A		not specified	Uncertain significance (Oct 12, 2021)
1-228487811-G-A		not specified	Uncertain significance (Nov 18, 2022)
1-228487816-A-T		not specified	Uncertain significance (Sep 22, 2023)
1-228488965-C-G		not specified	Uncertain significance (Jun 23, 2023)
1-228493176-G-A		not specified	Uncertain significance (Nov 03, 2022)
1-228493219-C-T		not specified	Uncertain significance (Dec 28, 2022)
1-228493245-C-T		not specified	Uncertain significance (Apr 13, 2022)
1-228493261-G-C		not specified	Uncertain significance (Aug 30, 2022)
1-228493266-C-G		not specified	Uncertain significance (Nov 10, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNF187	protein_coding	protein_coding	ENST00000305943	3	8706

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0967	0.781	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.29	35	64.0	0.547	0.00000389	808
Missense in Polyphen		6	17.657	0.33981		216
Synonymous	-0.363	30	27.6	1.09	0.00000173	240
Loss of Function	1.18	2	4.78	0.418	2.01e-7	77

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: E3 ubiquitin-protein ligase that acts as a coactivator of JUN-mediated gene activation in response to growth factor signaling via the MAP3K1 pathway, independently from MAPK8. {ECO:0000269|PubMed:20852630}.

Haploinsufficiency Scores

• pHI: 0.234
• ghis: 0.616

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.571

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Rnf187

Gene ontology

• Biological process: positive regulation of cell population proliferation;proteasome-mediated ubiquitin-dependent protein catabolic process;positive regulation of transcription, DNA-templated;protein autoubiquitination;protein K48-linked ubiquitination
• Cellular component: nucleus;nucleoplasm;cytoplasm;cytosol
• Molecular function: ubiquitin-protein transferase activity;protein binding;metal ion binding