RNF44

ring finger protein 44, the group of Ring finger proteins

Basic information

Region (hg38): 5:176526712-176538025

Links

ENSG00000146083 ∙ NCBI:22838 ∙ OMIM:619283 ∙ HGNC:19180 ∙ Uniprot:Q7L0R7 ∙ 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 RNF44 gene.

• not_specified (82 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF44 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014901.5. 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			79	3		82
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	79	3	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNF44	protein_coding	protein_coding	ENST00000274811	10	11329

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.270	0.729	125513	0	21	125534	0.0000836

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.394	209	226	0.926	0.0000146	2716
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000245	0.000158
Ashkenazi Jewish	0.000369	0.000298
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000146	0.0000882
Middle Eastern	0.00	0.00
South Asian	0.0000995	0.0000980
Other	0.000176	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.587
• rvis_EVS: -0.18
• rvis_percentile_EVS: 40.36

Haploinsufficiency Scores

• pHI: 0.359
• hipred: Y
• hipred_score: 0.530
• ghis: 0.521

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.614

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rnf44

Gene ontology

• Molecular function: metal ion binding