ZNF511

zinc finger protein 511, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 10:133308913-133313162

Links

ENSG00000198546 ∙ NCBI:118472 ∙ ∙ HGNC:28445 ∙ Uniprot:Q8NB15 ∙ 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 ZNF511 gene.

• Inborn genetic diseases (13 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF511 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	0	0

Variants in ZNF511

This is a list of pathogenic ClinVar variants found in the ZNF511 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
10-133308962-C-A		not specified	Uncertain significance (Feb 16, 2023)
10-133308971-C-T		not specified	Uncertain significance (Jul 05, 2022)
10-133309421-A-C		not specified	Uncertain significance (Jun 02, 2023)
10-133309422-G-C		not specified	Uncertain significance (Dec 05, 2022)
10-133309432-A-G		not specified	Uncertain significance (Jun 18, 2021)
10-133309434-G-T		not specified	Uncertain significance (Jan 16, 2024)
10-133309873-T-C		not specified	Uncertain significance (Oct 12, 2021)
10-133309958-T-C		not specified	Uncertain significance (Feb 28, 2023)
10-133310177-T-C		not specified	Uncertain significance (Nov 03, 2022)
10-133310182-G-A		not specified	Uncertain significance (Feb 06, 2024)
10-133310225-A-G		not specified	Uncertain significance (Mar 06, 2023)
10-133311721-C-G		not specified	Uncertain significance (Sep 28, 2022)
10-133311753-C-T		not specified	Uncertain significance (Jun 21, 2023)
10-133311762-G-A		not specified	Uncertain significance (Apr 25, 2023)
10-133311816-G-C		not specified	Uncertain significance (Feb 26, 2024)
10-133311820-A-G		not specified	Uncertain significance (Dec 18, 2023)
10-133312826-G-A		not specified	Uncertain significance (Dec 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF511	protein_coding	protein_coding	ENST00000361518	6	44055

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000157	0.689	125719	0	28	125747	0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.605	115	135	0.853	0.00000827	1636
Missense in Polyphen		35	39.437	0.8875		477
Synonymous	0.417	52	56.0	0.929	0.00000407	494
Loss of Function	0.876	7	9.99	0.701	4.26e-7	126

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000293	0.000293
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000903	0.0000879
Middle Eastern	0.00	0.00
South Asian	0.000261	0.000261
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• rvis_EVS: -0.12
• rvis_percentile_EVS: 44.89

Haploinsufficiency Scores

• pHI: 0.103
• hipred: N
• hipred_score: 0.292
• ghis: 0.524

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.827

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp511

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;protein binding;metal ion binding