RNF44

protein-coding

ring finger protein 44, the group of Ring finger proteins

Gene summary

The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. [provided by RefSeq, Jul 2008]

MANE transcript

NM_014901.5

Inheritance

—

ClinVar variants

U:95B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.24

Max pathogenic AF

—

Genomic locus

chr5:176,526,712-176,538,025

External References & Databases

Ensembl (ENSG00000146083)

Transcript & Mutation Effects

hg38 • Region Span ~11.3 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 RNF44 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 91

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014901.5. 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		1 clinvar	2
missense			89 clinvar	3 clinvar		92
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	0	0	95	3	1	99

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 58 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014901.5	RefSeq	NP_055716.1	10	MANE Select
ENST00000274811.9	Ensembl	ENSP00000274811.4	10	MANE Select
ENST00000504160.1	Ensembl	ENSP00000424699.1	2	Standard
ENST00000506378.1	Ensembl	ENSP00000425253.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

metal ion binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000274811
Coding exons: 10
Length: 11329
Individuals with no LoFs: 125513
Homozygous LoFs: 0
Heterozygous LoFs: 21
Defined: 125534
p: 0.0000836

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.394	209	226	0.926	0.0000146	2716
Missense (PolyPhen)		38	50.101	0.75847		561
Synonymous	-1.44	123	104	1.18	0.00000759	908
Loss of Function	3.23	5	20.9	0.239	0.00000136	223

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00015	0.000062	rare
Latino/Admixed American	0.000097	0.000087	rare
Ashkenazi Jewish	0.00037	0.00030	rare
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.00015	0.000088	rare
South Asian	0.000099	0.000098	rare
Other	0.00018	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.587
RVIS EVS: -0.18
RVIS percentile EVS: 40.36

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.614

Gene Damage Prediction

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