ZNF667

zinc finger protein 667, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:56439325-56478065

Links

ENSG00000198046 ∙ NCBI:63934 ∙ OMIM:611024 ∙ HGNC:28854 ∙ Uniprot:Q5HYK9 ∙ 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 ZNF667 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF667 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			12	1		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	12	2	0

Variants in ZNF667

This is a list of pathogenic ClinVar variants found in the ZNF667 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-56441187-T-C		not specified	Uncertain significance (Jun 29, 2022)
19-56441344-C-T		not specified	Uncertain significance (Feb 27, 2024)
19-56441485-A-G		not specified	Uncertain significance (Feb 21, 2024)
19-56441698-G-A		not specified	Uncertain significance (May 13, 2024)
19-56441703-T-C		not specified	Uncertain significance (Jun 18, 2021)
19-56441736-C-T		not specified	Uncertain significance (Jun 17, 2024)
19-56441739-T-C		not specified	Uncertain significance (Apr 25, 2023)
19-56441798-T-G			Likely benign (Mar 01, 2023)
19-56441805-C-T		not specified	Uncertain significance (May 10, 2022)
19-56441991-C-T		not specified	Uncertain significance (May 12, 2024)
19-56441993-T-A		not specified	Uncertain significance (May 12, 2024)
19-56442060-G-A		not specified	Likely benign (Sep 28, 2022)
19-56442076-T-C		not specified	Uncertain significance (Dec 19, 2023)
19-56442131-T-G		not specified	Uncertain significance (Jun 17, 2024)
19-56442156-G-A		not specified	Likely benign (May 28, 2024)
19-56442220-C-T		not specified	Uncertain significance (Aug 16, 2021)
19-56458163-C-T		not specified	Uncertain significance (Oct 02, 2023)
19-56458164-G-A		not specified	Uncertain significance (Aug 02, 2023)
19-56458187-A-G		not specified	Uncertain significance (Nov 24, 2024)
19-56458235-C-T		not specified	Uncertain significance (Dec 01, 2022)
19-56460707-G-A		not specified	Uncertain significance (Jan 30, 2024)
19-56460754-C-T		not specified	Uncertain significance (Jul 22, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF667	protein_coding	protein_coding	ENST00000504904	4	38741

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000238	0.979	125698	0	49	125747	0.000195

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.571	297	326	0.911	0.0000164	4060
Missense in Polyphen		112	147.31	0.76028		1783
Synonymous	0.149	111	113	0.982	0.00000544	1076
Loss of Function	2.13	13	24.3	0.535	0.00000143	320

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000242	0.000242
Ashkenazi Jewish	0.00	0.00
East Asian	0.000326	0.000326
Finnish	0.00	0.00
European (Non-Finnish)	0.000264	0.000264
Middle Eastern	0.000326	0.000326
South Asian	0.000229	0.000229
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation. {ECO:0000250}.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.0920

Intolerance Scores

• loftool: 0.804
• rvis_EVS: 0.11
• rvis_percentile_EVS: 62.1

Haploinsufficiency Scores

• pHI: 0.162
• hipred: N
• hipred_score: 0.203
• ghis: 0.507

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.112

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp667

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