ZNF365

zinc finger protein 365, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 10:62374192-62480288

Links

∙ NCBI:22891 ∙ OMIM:607818 ∙ HGNC:18194 ∙ Uniprot:Q70YC4, Q70YC5 ∙ 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 ZNF365 gene.

not_specified (28 variants)
not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF365 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014951.3. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			28 clinvar			28
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	28	1	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF365	protein_coding	protein_coding	ENST00000410046	7	297821

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000468	0.993	125734	0	14	125748	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.660	228	258	0.884	0.0000146	3021
Missense in Polyphen		65	81.097	0.80151		969
Synonymous	0.611	98	106	0.925	0.00000651	896
Loss of Function	2.39	9	20.8	0.434	0.00000105	241

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.000272	0.000272
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.000272	0.000272
South Asian	0.000163	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: May play a role in uric acid excretion.;
Disease: DISEASE: Uric acid nephrolithiasis (UAN) [MIM:605990]: A form of nephrolithiasis, a common multifactorial disease characterized by stones formation in the kidney and urinary tract. Nephrolithiasis is due to supersaturation of the urine by stone-forming constituents, including calcium, oxalate and uric acid. Crystals or foreign bodies can act as nidi, upon which ions from the supersaturated urine form microscopic crystalline structures. Uric acid nephrolithiasis occurs when the urine becomes overly concentrated with uric acid and accounts for 20% of all stones. {ECO:0000269|PubMed:12740763}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.;

Recessive Scores

pRec: 0.0714

Intolerance Scores

loftool: 0.464
rvis_EVS: 1.74
rvis_percentile_EVS: 96.63

Haploinsufficiency Scores

pHI: 0.117
hipred: N
hipred_score: 0.153
ghis: 0.476

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.348

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Zfp365
Phenotype: hematopoietic system phenotype; skeleton phenotype; immune system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan);

Gene ontology

Biological process: telomere maintenance;regulation of double-strand break repair via homologous recombination;negative regulation of neuron projection development;cerebellar molecular layer morphogenesis;positive regulation of oligodendrocyte differentiation;dendritic spine morphogenesis;regulation of DNA strand resection involved in replication fork processing;dendrite arborization
Cellular component: cytoplasm;microtubule organizing center;intracellular membrane-bounded organelle
Molecular function: protein binding;metal ion binding