ZNF512B

zinc finger protein 512B, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 20:63956703-63969930

Links

ENSG00000196700 ∙ NCBI:57473 ∙ OMIM:617886 ∙ HGNC:29212 ∙ Uniprot:Q96KM6 ∙ 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 ZNF512B gene.

• Inborn genetic diseases (30 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF512B 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				2		2
missense			29	1		30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	29	3	1

Variants in ZNF512B

This is a list of pathogenic ClinVar variants found in the ZNF512B region.

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

Position	Type	Phenotype	Significance	ClinVar
20-63959879-G-A		ZNF512B-related disorder	Likely benign (Feb 21, 2019)
20-63959917-C-T		not specified	Uncertain significance (Sep 20, 2023)
20-63959976-C-T		not specified	Likely benign (Nov 27, 2023)
20-63959977-G-A		not specified	Uncertain significance (Dec 26, 2023)
20-63959982-G-A		not specified	Likely benign (Apr 07, 2022)
20-63960016-G-A		not specified	Uncertain significance (May 31, 2023)
20-63960093-T-C		not specified	Uncertain significance (Dec 01, 2022)
20-63960107-G-A		ZNF512B-related disorder	Benign (Apr 15, 2019)
20-63960130-G-C		not specified	Uncertain significance (Apr 05, 2023)
20-63961383-G-A		not specified	Likely benign (Aug 02, 2021)
20-63961403-G-A		not specified	Uncertain significance (Nov 28, 2023)
20-63961404-C-A		ZNF512B-related disorder	Likely benign (May 17, 2022)
20-63962346-G-A		not specified	Uncertain significance (Jul 19, 2023)
20-63962351-G-A		ZNF512B-related disorder	Benign (Jun 25, 2019)
20-63962589-G-A		not specified	Uncertain significance (Jun 11, 2021)
20-63962599-G-A		ZNF512B-related disorder	Likely benign (Jan 20, 2020)
20-63962624-C-T		not specified	Uncertain significance (Jun 09, 2022)
20-63962638-G-A		ZNF512B-related disorder	Likely benign (Nov 21, 2019)
20-63962695-C-T		ZNF512B-related disorder	Likely benign (May 07, 2019)
20-63962894-G-A			Benign (Jun 19, 2021)
20-63963101-C-T			Likely benign (Apr 01, 2022)
20-63963127-C-T		not specified	Uncertain significance (Aug 26, 2022)
20-63963150-G-C		not specified	Uncertain significance (Apr 12, 2023)
20-63963201-G-A		not specified	Uncertain significance (Feb 27, 2023)
20-63963233-G-A			Likely benign (Aug 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF512B	protein_coding	protein_coding	ENST00000450537	16	92059

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.0000822	125738	0	9	125747	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.83	450	573	0.785	0.0000375	5726
Missense in Polyphen		118	193.93	0.60846		1974
Synonymous	-0.968	260	241	1.08	0.0000175	1839
Loss of Function	5.61	4	44.3	0.0902	0.00000282	450

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000186	0.000185
European (Non-Finnish)	0.0000268	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.0000347	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.124

Intolerance Scores

• loftool: 0.136
• rvis_EVS: -0.61
• rvis_percentile_EVS: 17.5

Haploinsufficiency Scores

• pHI: 0.325
• hipred: Y
• hipred_score: 0.752
• ghis: 0.552

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.801

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp512b

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