RNF151

ring finger protein 151, the group of Zinc fingers TRAF-type|Ring finger proteins

Basic information

Region (hg38): 16:1966823-1968975

Links

ENSG00000179580 ∙ NCBI:146310 ∙ ∙ HGNC:23235 ∙ Uniprot:Q2KHN1 ∙ 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 RNF151 gene.

• not_specified (52 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF151 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000174903.6. 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				1		1
missense			48	4		52
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	48	5	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNF151	protein_coding	protein_coding	ENST00000569714	4	2153

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000176	0.475	124517	0	14	124531	0.0000562

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.310	154	165	0.932	0.0000115	1553
Missense in Polyphen		32	33.383	0.95857		356
Synonymous	-1.28	80	66.7	1.20	0.00000445	491
Loss of Function	0.312	6	6.88	0.872	2.91e-7	86

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000709	0.0000646
Ashkenazi Jewish	0.00	0.00
East Asian	0.000176	0.000167
Finnish	0.00	0.00
European (Non-Finnish)	0.0000744	0.0000709
Middle Eastern	0.000176	0.000167
South Asian	0.0000726	0.0000654
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in acrosome formation of spermatids.

Recessive Scores

• pRec: 0.0958

Haploinsufficiency Scores

• pHI: 0.252
• hipred: N
• hipred_score: 0.146
• ghis: 0.415

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0981

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rnf151

Gene ontology

• Biological process: spermatogenesis;cell differentiation
• Cellular component: nucleus;cytoplasm
• Molecular function: zinc ion binding