ZNF671

zinc finger protein 671, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:57719751-57727624

Links

ENSG00000083814 ∙ NCBI:79891 ∙ ∙ HGNC:26279 ∙ Uniprot:Q8TAW3 ∙ 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 ZNF671 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF671 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					1	1
missense			37	1	1	39
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	37	1	2

Variants in ZNF671

This is a list of pathogenic ClinVar variants found in the ZNF671 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-57720533-C-T		not specified	Uncertain significance (Jun 26, 2024)
19-57720543-C-T		not specified	Uncertain significance (Jan 10, 2023)
19-57720633-C-T		not specified	Uncertain significance (Aug 07, 2024)
19-57720729-A-G		not specified	Uncertain significance (Jan 23, 2024)
19-57720776-C-A		not specified	Uncertain significance (Nov 12, 2021)
19-57720852-G-A		not specified	Uncertain significance (Mar 08, 2025)
19-57720878-C-T			Benign (Dec 31, 2019)
19-57720885-C-T		not specified	Uncertain significance (Jan 22, 2025)
19-57720895-A-G			Benign (Dec 31, 2019)
19-57720897-A-G		not specified	Uncertain significance (Jun 26, 2024)
19-57720980-T-C		not specified	Uncertain significance (Jun 17, 2024)
19-57720995-G-A		not specified	Uncertain significance (Sep 10, 2024)
19-57721055-C-T		not specified	Uncertain significance (Feb 04, 2025)
19-57721071-T-C		not specified	Uncertain significance (Aug 05, 2024)
19-57721086-C-T		not specified	Uncertain significance (Jan 29, 2025)
19-57721137-C-T		not specified	Uncertain significance (Jul 30, 2024)
19-57721142-C-T		not specified	Uncertain significance (Jan 02, 2025)
19-57721199-C-T		not specified	Uncertain significance (Jan 24, 2025)
19-57721200-G-A		not specified	Uncertain significance (Jul 21, 2021)
19-57721256-C-G		not specified	Uncertain significance (Jan 17, 2025)
19-57721413-C-G		not specified	Uncertain significance (Jul 21, 2021)
19-57721446-G-A		not specified	Uncertain significance (Sep 14, 2022)
19-57721505-C-T		not specified	Uncertain significance (Jul 21, 2021)
19-57721506-A-G		not specified	Uncertain significance (Dec 21, 2022)
19-57721536-C-T		not specified	Uncertain significance (Mar 19, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF671	protein_coding	protein_coding	ENST00000317398	4	7874

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.21e-8	0.0610	125733	0	6	125739	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.129	285	291	0.979	0.0000147	3527
Missense in Polyphen		81	82.591	0.98073		1066
Synonymous	-0.107	110	109	1.01	0.00000551	1011
Loss of Function	-0.762	10	7.72	1.30	4.20e-7	79

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000617	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000177	0.0000176
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.000171	0.000163

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: 0.901
• rvis_EVS: -0.31
• rvis_percentile_EVS: 32.06

Haploinsufficiency Scores

• pHI: 0.0697
• hipred: N
• hipred_score: 0.112
• ghis: 0.535

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.537

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