ZNF367

zinc finger protein 367, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 9:96385941-96418370

Links

ENSG00000165244 ∙ NCBI:195828 ∙ OMIM:610160 ∙ HGNC:18320 ∙ Uniprot:Q7RTV3 ∙ 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 ZNF367 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF367 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			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	0	0

Variants in ZNF367

This is a list of pathogenic ClinVar variants found in the ZNF367 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-96388405-C-G		not specified	Uncertain significance (Oct 10, 2023)
9-96388447-C-T		not specified	Uncertain significance (Nov 17, 2022)
9-96392416-G-A		not specified	Uncertain significance (Jul 26, 2021)
9-96392422-T-C		not specified	Uncertain significance (Oct 10, 2023)
9-96392425-T-C		not specified	Uncertain significance (Oct 03, 2022)
9-96398272-C-T		not specified	Uncertain significance (Sep 26, 2022)
9-96417699-G-T		not specified	Uncertain significance (Sep 01, 2021)
9-96417713-C-G		not specified	Uncertain significance (May 30, 2024)
9-96417729-C-T		not specified	Uncertain significance (Feb 13, 2024)
9-96417921-T-C		not specified	Uncertain significance (Jun 30, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF367	protein_coding	protein_coding	ENST00000375256	5	32389

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.906	0.0942	125727	0	1	125728	0.00000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.65	78	177	0.440	0.0000110	2239
Missense in Polyphen		28	93.649	0.29899		936
Synonymous	0.338	67	70.6	0.949	0.00000450	715
Loss of Function	2.94	1	12.0	0.0832	5.94e-7	161

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)	0.00000879	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional activator. Isoform 1 may be involved in transcriptional activation of erythroid genes. {ECO:0000269|PubMed:15344908}.

Recessive Scores

• pRec: 0.111

Haploinsufficiency Scores

• pHI: 0.816
• hipred: Y
• hipred_score: 0.728
• ghis: 0.705

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.387

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp367
• Phenotype: homeostasis/metabolism phenotype

Gene ontology

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