RNF32

ring finger protein 32, the group of Ring finger proteins

Basic information

Region (hg38): 7:156640281-156677130

Links

ENSG00000105982 ∙ NCBI:140545 ∙ OMIM:610241 ∙ HGNC:17118 ∙ Uniprot:Q9H0A6 ∙ 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 RNF32 gene.

• not_specified (44 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF32 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000030936.4. 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						0
missense			42	2		44
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	42	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNF32	protein_coding	protein_coding	ENST00000405335	8	36850

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.11e-15	0.00556	116530	316	8902	125748	0.0374

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.281	192	203	0.945	0.0000112	2352
Missense in Polyphen		62	71.328	0.86922		830
Synonymous	-0.0894	79	78.0	1.01	0.00000449	688
Loss of Function	-0.338	22	20.4	1.08	0.00000108	239

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.130	0.130
Ashkenazi Jewish	0.0127	0.0128
East Asian	0.118	0.117
Finnish	0.0258	0.0250
European (Non-Finnish)	0.0317	0.0317
Middle Eastern	0.118	0.117
South Asian	0.0160	0.0132
Other	0.0297	0.0288

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in sperm formation. {ECO:0000269|PubMed:11890671}.

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.663
• rvis_EVS: 0.78
• rvis_percentile_EVS: 87.14

Haploinsufficiency Scores

• pHI: 0.213
• hipred: N
• hipred_score: 0.196
• ghis: 0.408

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.675

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rnf32

Gene ontology

• Cellular component: endosome;aggresome
• Molecular function: protein binding;metal ion binding