ZNF467

zinc finger protein 467, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 7:149764182-149773588

Links

ENSG00000181444 ∙ NCBI:168544 ∙ OMIM:614040 ∙ HGNC:23154 ∙ Uniprot:Q7Z7K2 ∙ 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 ZNF467 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF467 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						0
missense			47	3		50
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	47	3	0

Variants in ZNF467

This is a list of pathogenic ClinVar variants found in the ZNF467 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-149764722-A-G		not specified	Uncertain significance (Jan 24, 2024)
7-149764730-G-A		not specified	Uncertain significance (Jan 19, 2024)
7-149764745-G-C		not specified	Uncertain significance (Dec 03, 2021)
7-149764745-G-T		not specified	Uncertain significance (Dec 09, 2024)
7-149764746-G-A		not specified	Uncertain significance (Dec 15, 2022)
7-149764746-G-C		not specified	Uncertain significance (Aug 27, 2024)
7-149764776-C-T		not specified	Uncertain significance (Jul 31, 2024)
7-149764806-C-T		not specified	Uncertain significance (Aug 10, 2021)
7-149764824-G-A		not specified	Uncertain significance (Jun 27, 2023)
7-149764856-C-T		not specified	Uncertain significance (Feb 28, 2023)
7-149764860-A-G		not specified	Uncertain significance (Nov 08, 2024)
7-149764925-G-C		not specified	Uncertain significance (Jun 22, 2021)
7-149764929-T-A		not specified	Uncertain significance (Apr 25, 2022)
7-149764992-G-C		not specified	Uncertain significance (Sep 08, 2024)
7-149764998-G-C		not specified	Uncertain significance (Oct 26, 2021)
7-149764999-G-C		not specified	Uncertain significance (Jan 16, 2024)
7-149765001-G-C		not specified	Uncertain significance (Mar 31, 2023)
7-149765010-G-T		not specified	Uncertain significance (Jul 13, 2022)
7-149765047-C-G		not specified	Uncertain significance (Aug 02, 2021)
7-149765055-C-T		not specified	Uncertain significance (Oct 29, 2021)
7-149765108-T-C		not specified	Likely benign (Apr 07, 2023)
7-149765118-T-C		not specified	Likely benign (Apr 07, 2023)
7-149765129-G-A		not specified	Uncertain significance (Aug 15, 2023)
7-149765210-A-G		not specified	Uncertain significance (Jun 06, 2023)
7-149765243-A-G		not specified	Likely benign (Apr 23, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF467	protein_coding	protein_coding	ENST00000302017	4	9298

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.62e-9	0.282	125563	0	182	125745	0.000724

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.238	352	365	0.965	0.0000241	3745
Missense in Polyphen		153	155.19	0.98592		1536
Synonymous	-0.306	167	162	1.03	0.0000116	1196
Loss of Function	0.702	15	18.2	0.823	8.26e-7	196

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000614	0.000604
Ashkenazi Jewish	0.0115	0.0112
East Asian	0.0000546	0.0000544
Finnish	0.0000952	0.0000462
European (Non-Finnish)	0.000319	0.000290
Middle Eastern	0.0000546	0.0000544
South Asian	0.000118	0.0000980
Other	0.00240	0.00228

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcription factor that promotes adipocyte differentiation and suppresses osteoblast differentiation in the bone marrow. Enhances the osteoclast-supporting ability of stromal cells. Binds with STAT3 the consensus sequence 5'-CTTCTGGGAAGA-3' of the acute phase response element (APRE). Transactivates several promoters including FOS, OSM and PPARG. Recruits a histone deacetylase complex (By similarity). {ECO:0000250}.

Recessive Scores

• pRec: 0.108

Haploinsufficiency Scores

• pHI: 0.112
• hipred: N
• hipred_score: 0.324
• ghis: 0.524

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.281

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp467

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