ZNF672

zinc finger protein 672, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 1:248838209-248849517

Links

ENSG00000171161 ∙ NCBI:79894 ∙ ∙ HGNC:26179 ∙ Uniprot:Q499Z4 ∙ 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 ZNF672 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF672 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			39	1		40
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	39	1	0

Variants in ZNF672

This is a list of pathogenic ClinVar variants found in the ZNF672 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-248847282-C-T		not specified	Uncertain significance (Jun 29, 2023)
1-248847290-G-C		not specified	Uncertain significance (Dec 30, 2023)
1-248847362-C-G		not specified	Uncertain significance (Jan 16, 2024)
1-248847375-G-A		not specified	Uncertain significance (Aug 19, 2023)
1-248847383-G-A		not specified	Uncertain significance (Apr 14, 2022)
1-248847393-G-T		not specified	Uncertain significance (Jan 27, 2022)
1-248847482-T-C		not specified	Uncertain significance (Nov 08, 2022)
1-248847500-G-A		not specified	Uncertain significance (Sep 27, 2022)
1-248847552-G-A		not specified	Uncertain significance (Aug 30, 2021)
1-248847563-C-T		not specified	Uncertain significance (Dec 13, 2022)
1-248847593-C-T		not specified	Uncertain significance (Aug 12, 2021)
1-248847651-G-A		not specified	Uncertain significance (Sep 30, 2021)
1-248847685-C-G		not specified	Uncertain significance (May 27, 2022)
1-248847726-C-T		not specified	Uncertain significance (Nov 08, 2022)
1-248847732-G-A		not specified	Uncertain significance (Oct 16, 2023)
1-248847743-G-T		not specified	Uncertain significance (Aug 02, 2022)
1-248847756-C-T		not specified	Uncertain significance (Jul 13, 2022)
1-248847770-G-A		not specified	Likely benign (Feb 03, 2022)
1-248847771-C-T		not specified	Uncertain significance (Apr 21, 2022)
1-248847798-G-T		not specified	Uncertain significance (Sep 13, 2022)
1-248847879-G-A		not specified	Uncertain significance (Sep 16, 2021)
1-248847899-G-C		EBV-positive nodal T- and NK-cell lymphoma	Likely benign (-)
1-248847918-C-T		not specified	Uncertain significance (May 23, 2023)
1-248847942-G-A		not specified	Uncertain significance (Dec 17, 2023)
1-248848008-A-G		not specified	Uncertain significance (May 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF672	protein_coding	protein_coding	ENST00000306562	1	11308

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0766	0.913	125664	0	13	125677	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.10	270	326	0.828	0.0000260	2811
Missense in Polyphen		102	127.46	0.80027		1184
Synonymous	1.35	123	144	0.857	0.0000120	945
Loss of Function	2.24	4	12.6	0.318	9.42e-7	97

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000278	0.000273
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000539	0.0000528
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.

Haploinsufficiency Scores

• pHI: 0.311
• hipred: N
• hipred_score: 0.272
• ghis: 0.617

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.372

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp672

Gene ontology

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