ZNF267

zinc finger protein 267, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 16:31873806-31917357

Links

ENSG00000185947 ∙ NCBI:10308 ∙ OMIM:604752 ∙ HGNC:13060 ∙ Uniprot:Q14586 ∙ 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 ZNF267 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF267 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			36			36
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	36	1	0

Variants in ZNF267

This is a list of pathogenic ClinVar variants found in the ZNF267 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-31884517-A-C		not specified	Uncertain significance (Jan 19, 2024)
16-31885170-T-G		not specified	Uncertain significance (Oct 20, 2021)
16-31885179-C-T		not specified	Uncertain significance (Sep 13, 2023)
16-31885234-G-C		not specified	Uncertain significance (Feb 15, 2023)
16-31885239-C-T		not specified	Uncertain significance (May 13, 2024)
16-31914513-G-C		not specified	Uncertain significance (Sep 13, 2023)
16-31914596-G-C		not specified	Uncertain significance (May 18, 2023)
16-31914651-T-A		not specified	Uncertain significance (Feb 21, 2024)
16-31914751-G-A		not specified	Uncertain significance (Oct 04, 2022)
16-31914773-T-A		not specified	Uncertain significance (May 08, 2024)
16-31914895-T-C		not specified	Uncertain significance (Jan 09, 2024)
16-31914905-A-G		not specified	Uncertain significance (Nov 28, 2023)
16-31914908-A-C		not specified	Uncertain significance (Sep 22, 2023)
16-31914928-C-G		not specified	Uncertain significance (Dec 14, 2021)
16-31914938-G-A		not specified	Uncertain significance (Sep 26, 2023)
16-31915010-T-A		not specified	Uncertain significance (May 27, 2022)
16-31915012-C-G		not specified	Uncertain significance (Dec 21, 2022)
16-31915019-T-C		not specified	Uncertain significance (Aug 22, 2023)
16-31915101-A-G			Likely benign (Sep 01, 2022)
16-31915190-T-C		not specified	Uncertain significance (Nov 17, 2022)
16-31915247-A-G		not specified	Uncertain significance (Jul 13, 2021)
16-31915282-A-G		not specified	Uncertain significance (Oct 25, 2022)
16-31915285-G-A		not specified	Uncertain significance (Oct 04, 2022)
16-31915370-A-G		not specified	Uncertain significance (Nov 30, 2022)
16-31915373-C-A		not specified	Uncertain significance (Jun 09, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF267	protein_coding	protein_coding	ENST00000300870	4	43590

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0171	0.730	125608	0	3	125611	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.575	351	383	0.917	0.0000186	4932
Missense in Polyphen		69	106.15	0.65		1369
Synonymous	1.07	117	133	0.882	0.00000618	1273
Loss of Function	0.742	3	4.74	0.633	2.01e-7	61

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000622	0.0000616
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000881	0.00000880
Middle Eastern	0.00	0.00
South Asian	0.0000365	0.0000327
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)

Recessive Scores

• pRec: 0.0901

Intolerance Scores

• loftool: 0.861
• rvis_EVS: 1.09
• rvis_percentile_EVS: 91.85

Haploinsufficiency Scores

• pHI: 0.467
• hipred: N
• hipred_score: 0.112
• ghis: 0.441

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.204

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: D3Ertd254e

Gene ontology

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