RNF141

protein-coding

ring finger protein 141, the group of Ring finger proteins

Gene summary

The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. Abundant expression of this gene was found in the testicular tissue of fertile men, but was not detected in azoospermic patients. Studies of the mouse counterpart suggest that this gene may function as a testis specific transcription factor during spermatogenesis. [provided by RefSeq, Jul 2008]

MANE transcript

NM_016422.4

Inheritance

—

ClinVar variants

U:20

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.64

Max pathogenic AF

—

Genomic locus

chr11:10,511,673-10,541,230

External References & Databases

Ensembl (ENSG00000110315)

Transcript & Mutation Effects

hg38 • Region Span ~29.6 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 RNF141 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 18

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_016422.4. 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						0
missense			19 clinvar			19
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	20	0	0	20

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 27 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_016422.4	RefSeq	NP_057506.2	5	MANE Select
ENST00000265981.7	Ensembl	ENSP00000265981.2	5	MANE Select
ENST00000528665.5	Ensembl	ENSP00000434320.1	4	Standard
ENST00000528665.6	Ensembl	ENSP00000434320.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of transcription, DNA-templated
protein autoubiquitination

Molecular Function

DNA binding
ubiquitin-protein transferase activity
metal ion binding

Cellular Component

membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000265981
Coding exons: 5
Length: 29553
Individuals with no LoFs: 125715
Homozygous LoFs: 0
Heterozygous LoFs: 30
Defined: 125745
p: 0.000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.04	94	127	0.740	0.00000654	1518
Missense (PolyPhen)		23	37.837	0.60787		448
Synonymous	-0.0495	45	44.6	1.01	0.00000228	426
Loss of Function	1.18	8	12.5	0.639	6.62e-7	138

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00018	0.00018	rare
Latino/Admixed American	0.00018	0.00017	rare
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.000055	0.000054	rare
Finnish	0.00023	0.00023	rare
European (Non-Finnish)	0.000088	0.000088	rare
South Asian	0.00010	0.000098	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in spermatogenesis. {ECO:0000269|PubMed:11672448}.;

Recessive Scores

pRec: 0.118

Intolerance Scores

LoFtool: 0.524
RVIS EVS: 0.26
RVIS percentile EVS: 70.06

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.561

Gene Damage Prediction

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