ZFR2

zinc finger RNA binding protein 2

Basic information

Region (hg38): 19:3804024-3869038

Previous symbols: [ "KIAA1086" ]

Links

ENSG00000105278 ∙ NCBI:23217 ∙ OMIM:619284 ∙ HGNC:29189 ∙ Uniprot:Q9UPR6 ∙ 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 ZFR2 gene.

• not_specified (213 variants)
• not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZFR2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015174.2. 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			3	4		7
missense			195	18		213
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2			2
Total	0	0	201	22	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZFR2	protein_coding	protein_coding	ENST00000262961	19	65009

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.76e-26	0.000460	124579	0	70	124649	0.000281

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.00888	552	551	1.00	0.0000378	5803
Missense in Polyphen		120	133.84	0.89662		1539
Synonymous	-0.359	264	257	1.03	0.0000202	1971
Loss of Function	0.158	39	40.1	0.973	0.00000202	470

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000973	0.000956
Ashkenazi Jewish	0.00	0.00
East Asian	0.000250	0.000223
Finnish	0.000200	0.000186
European (Non-Finnish)	0.000223	0.000212
Middle Eastern	0.000250	0.000223
South Asian	0.000472	0.000425
Other	0.000334	0.000331

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0918

Intolerance Scores

• loftool: 0.783
• rvis_EVS: 0.39
• rvis_percentile_EVS: 75.71

Haploinsufficiency Scores

• pHI: 0.109
• hipred: N
• hipred_score: 0.207
• ghis: 0.442

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.248

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfr2

Gene ontology

• Cellular component: nucleus
• Molecular function: double-stranded RNA binding;single-stranded RNA binding;zinc ion binding