GeneBe

ZFR

zinc finger RNA binding protein, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 5:32354350-32444740

Links

ENSG00000056097 ∙ NCBI:51663 ∙ OMIM:615635 ∙ HGNC:17277 ∙ Uniprot:Q96KR1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • autosomal recessive spastic paraplegia type 71 (Supportive), mode of inheritance: AR
  • hereditary spastic paraplegia (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZFR gene.

  • Pure_or_complex_autosomal_recessive_spastic_paraplegia (201 variants)
  • not_specified (68 variants)
  • ZFR-related_disorder (10 variants)
  • not_provided (8 variants)
  • Hereditary_spastic_paraplegia (1 variants)
  • Intellectual_disability (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZFR gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016107.5. 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.

EffectPLPVUSLBBSum
synonymous
70
clinvar
3
clinvar
 73
missense
125
clinvar
3
clinvar
 128
nonsense
0
start loss
0
frameshift
1
clinvar
 1
splice donor/acceptor (+/-2bp)
0
Total 0 0 126 73 3
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ZFRprotein_codingprotein_codingENST00000265069 2090412
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
1.003.35e-8125741071257480.0000278
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense4.093035800.5220.00003086924
Missense in Polyphen1446.4610.30133548
Synonymous0.2572002050.9770.00001092159
Loss of Function6.87360.80.04930.00000364673

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001850.000123
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.00009250.0000924
European (Non-Finnish)0.00003560.0000264
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Involved in postimplantation and gastrulation stages of development. Involved in the nucleocytoplasmic shuttling of STAU2. Binds to DNA and RNA (By similarity). {ECO:0000250}.;
Pathway
Exercise-induced Circadian Regulation (Consensus)

Recessive Scores

pRec
0.148

Intolerance Scores

loftool
0.0979
rvis_EVS
-0.75
rvis_percentile_EVS
13.58

Haploinsufficiency Scores

pHI
0.638
hipred
Y
hipred_score
0.717
ghis
0.674

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.942

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Zfr
Phenotype
mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); embryo phenotype; growth/size/body region phenotype;

Gene ontology

Biological process
multicellular organism development
Cellular component
nucleus;chromosome;cytoplasm
Molecular function
DNA binding;RNA binding;double-stranded RNA binding;single-stranded RNA binding;protein binding;zinc ion binding