RNF149

ring finger protein 149, the group of Ring finger proteins

Basic information

Region (hg38): 2:101271219-101308701

Links

ENSG00000163162 ∙ NCBI:284996 ∙ ∙ HGNC:23137 ∙ Uniprot:Q8NC42 ∙ 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 RNF149 gene.

• not_specified (41 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF149 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000173647.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			40	1		41
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	40	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNF149	protein_coding	protein_coding	ENST00000295317	7	37483

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000578	0.977	125729	0	19	125748	0.0000756

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.14	183	232	0.790	0.0000113	2557
Missense in Polyphen		46	78.447	0.58638		911
Synonymous	0.391	89	93.8	0.949	0.00000476	828
Loss of Function	2.02	8	17.0	0.472	8.07e-7	191

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000256	0.000244
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000938	0.0000924
European (Non-Finnish)	0.0000840	0.0000791
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: E3 ubiquitin-protein ligase. Ubiquitinates BRAF, inducing its proteasomal degradation. {ECO:0000269|PubMed:22628551}.

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.563
• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.57

Haploinsufficiency Scores

• pHI: 0.0915
• hipred: N
• hipred_score: 0.296
• ghis: 0.489

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.458

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rnf149

Gene ontology

• Biological process: ubiquitin-dependent protein catabolic process;protein ubiquitination;regulation of protein stability;cellular response to drug;negative regulation of MAPK cascade
• Cellular component: membrane;integral component of membrane
• Molecular function: metal ion binding;ubiquitin protein ligase activity