RNF157

protein-coding

ring finger protein 157, the group of Ring finger proteins

Gene summary

Predicted to enable ubiquitin protein ligase activity. Predicted to be involved in negative regulation of apoptotic process; positive regulation of dendrite extension; and protein ubiquitination. Predicted to be located in cell body and cytoplasm. Predicted to be active in cytoplasmic vesicle. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_052916.3

Inheritance

—

ClinVar variants

U:99B:8

Top phenotype

Williams syndrome

gnomAD constraint

pLI —, LoF o/e 0.51

Max pathogenic AF

—

Genomic locus

chr17:76,142,465-76,240,493

External References & Databases

Ensembl (ENSG00000141576)

Transcript & Mutation Effects

hg38 • Region Span ~98.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to RNF157 variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 97

not providedTotal: 6

Williams syndromeTotal: 1

Chronic granulomatous diseaseTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_052916.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar	3 clinvar	4
missense			97 clinvar	3 clinvar	1 clinvar	101
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	99	4	4	107

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 29 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_052916.3	RefSeq	NP_443148.1	19	MANE Select
ENST00000269391.11	Ensembl	ENSP00000269391.4	19	MANE Select
NM_001330501.2	RefSeq	NP_001317430.1	18	Standard
NM_001438721.1	RefSeq	NP_001425650.1	19	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

transferase activity
metal ion binding

Cellular Component

cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000269391
Coding exons: 19
Length: 97921
Individuals with no LoFs: 125693
Homozygous LoFs: 0
Heterozygous LoFs: 55
Defined: 125748
p: 0.000219

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.809	340	385	0.884	0.0000219	4393
Missense (PolyPhen)		48	78.675	0.6101		931
Synonymous	0.0336	162	163	0.997	0.0000105	1326
Loss of Function	2.85	20	39.3	0.509	0.00000210	446

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.00020	0.00020	rare
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.00011	0.00011	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00028	0.00028	rare
South Asian	0.00030	0.00029	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: E3 ubiquitin ligase that ubiquitinates APBB1 for its degradation by the proteasome and thus prevents apoptosis and promotes survival of neurons (PubMed:25342469). Has a dual role in neurons as it is also required for dendrite growth and maintenance for which its ligase activity is not critical (PubMed:25342469). May act as a scaffold molecule to regulate this process (PubMed:25342469). Acts as a downstream effector of the interconnected PI3K and MAPK signaling pathways and thus participates in the regulation of the cell cycle (PubMed:28655764). {ECO:0000269|PubMed:25342469, ECO:0000269|PubMed:28655764}.;

Recessive Scores

pRec: 0.0962

Intolerance Scores

LoFtool: 0.747
RVIS EVS: 0.29
RVIS percentile EVS: 71.62

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.634

Gene Damage Prediction

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