ZNF676

zinc finger protein 676, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:22179089-22215801

Links

ENSG00000196109 ∙ NCBI:163223 ∙ ∙ HGNC:20429 ∙ Uniprot:Q8N7Q3 ∙ 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 ZNF676 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF676 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				5		5
missense			41	3		44
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	41	8	0

Variants in ZNF676

This is a list of pathogenic ClinVar variants found in the ZNF676 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-22179976-T-C		not specified	Uncertain significance (Oct 20, 2021)
19-22179991-C-T		not specified	Likely benign (Feb 13, 2024)
19-22180015-T-C		not specified	Uncertain significance (Mar 04, 2024)
19-22180057-T-A		not specified	Uncertain significance (Aug 15, 2023)
19-22180090-T-G		not specified	Uncertain significance (May 25, 2022)
19-22180206-C-G		not specified	Likely benign (Jul 15, 2021)
19-22180221-T-C		not specified	Uncertain significance (Sep 26, 2022)
19-22180246-T-C		not specified	Uncertain significance (Jun 09, 2022)
19-22180254-G-A		not specified	Uncertain significance (Jul 05, 2023)
19-22180272-C-T		not specified	Uncertain significance (Dec 21, 2023)
19-22180306-G-T		not specified	Uncertain significance (Mar 18, 2024)
19-22180312-T-C		not specified	Uncertain significance (Aug 08, 2022)
19-22180397-C-G		not specified	Uncertain significance (Oct 26, 2022)
19-22180432-C-A		not specified	Uncertain significance (Sep 22, 2023)
19-22180472-A-G			Likely benign (May 01, 2023)
19-22180493-G-A			Likely benign (May 01, 2023)
19-22180521-C-T		not specified	Uncertain significance (Sep 26, 2023)
19-22180542-G-A		not specified	Uncertain significance (Dec 06, 2022)
19-22180561-T-C		not specified	Uncertain significance (May 16, 2024)
19-22180564-C-T		not specified	Uncertain significance (Oct 26, 2022)
19-22180593-C-T		not specified	Uncertain significance (Jul 19, 2022)
19-22180602-T-C		not specified	Uncertain significance (Sep 30, 2021)
19-22180605-C-T		not specified	Uncertain significance (May 14, 2024)
19-22180735-T-C		not specified	Uncertain significance (Aug 17, 2022)
19-22180804-C-G		not specified	Uncertain significance (Mar 29, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF676	protein_coding	protein_coding	ENST00000397121	3	17861

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.183	0.658	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.25	347	287	1.21	0.0000134	3844
Missense in Polyphen		135	106.56	1.2668		1468
Synonymous	-1.95	123	98.4	1.25	0.00000484	970
Loss of Function	0.896	1	2.54	0.394	1.07e-7	32

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Intolerance Scores

• loftool: 0.913
• rvis_EVS: 0.8
• rvis_percentile_EVS: 87.59

Haploinsufficiency Scores

• pHI: 0.0997
• hipred: N
• hipred_score: 0.112
• ghis: 0.463

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.141

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp273

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;metal ion binding