ZNF527

zinc finger protein 527, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:37371061-37393066

Links

ENSG00000189164 ∙ NCBI:84503 ∙ ∙ HGNC:29385 ∙ Uniprot:Q8NB42 ∙ 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 ZNF527 gene.

• not_specified (54 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF527 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032453.2. 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						0
missense			52	2		54
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	52	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF527	protein_coding	protein_coding	ENST00000436120	4	22006

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00100	0.997	118240	860	6294	125394	0.0289

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.02	271	323	0.840	0.0000154	4097
Missense in Polyphen		67	100.33	0.66777		1263
Synonymous	1.17	99	115	0.861	0.00000612	1030
Loss of Function	2.68	9	22.8	0.395	0.00000102	320

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0316	0.0275
Ashkenazi Jewish	0.0957	0.0415
East Asian	0.0241	0.0130
Finnish	0.0603	0.0263
European (Non-Finnish)	0.0954	0.0418
Middle Eastern	0.0241	0.0130
South Asian	0.0445	0.0217
Other	0.0529	0.0247

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.

Intolerance Scores

• loftool: 0.767
• rvis_EVS: -0.2
• rvis_percentile_EVS: 38.98

Haploinsufficiency Scores

• pHI: 0.243
• hipred: N
• hipred_score: 0.112
• ghis: 0.566

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.200

Gene Damage Prediction

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

Gene ontology

• Biological process: regulation of transcription, DNA-templated
• Cellular component: nucleus
• Molecular function: DNA binding;metal ion binding