ZNF629

zinc finger protein 629, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 16:30778456-30787205

Previous symbols: [ "ZNF65" ]

Links

ENSG00000102870 ∙ NCBI:23361 ∙ OMIM:619587 ∙ HGNC:29008 ∙ Uniprot:Q9UEG4 ∙ 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 ZNF629 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF629 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			50	1	2	53
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	50	1	2

Variants in ZNF629

This is a list of pathogenic ClinVar variants found in the ZNF629 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-30781732-C-G		not specified	Uncertain significance (May 22, 2023)
16-30781773-G-A		not specified	Uncertain significance (Aug 28, 2024)
16-30781780-C-T		not specified	Uncertain significance (Aug 09, 2021)
16-30781804-A-G		not specified	Uncertain significance (Feb 23, 2025)
16-30781804-A-T		not specified	Uncertain significance (Oct 20, 2024)
16-30781848-T-A			Benign (Dec 19, 2017)
16-30781859-C-G		not specified	Uncertain significance (Dec 03, 2024)
16-30781863-G-T		not specified	Uncertain significance (Apr 08, 2024)
16-30781873-G-C		not specified	Uncertain significance (Nov 12, 2021)
16-30781879-C-T		not specified	Uncertain significance (Nov 10, 2022)
16-30781891-C-T		not specified	Uncertain significance (Dec 21, 2023)
16-30781930-C-A		not specified	Uncertain significance (Feb 26, 2024)
16-30781935-G-A		not specified	Uncertain significance (Jul 21, 2021)
16-30781945-G-A		not specified	Likely benign (Dec 23, 2024)
16-30781990-G-A		not specified	Uncertain significance (May 18, 2023)
16-30782022-C-G		not specified	Uncertain significance (Apr 25, 2023)
16-30782044-G-T		not specified	Uncertain significance (Mar 28, 2024)
16-30782068-C-A		not specified	Uncertain significance (Oct 12, 2022)
16-30782105-G-C		not specified	Uncertain significance (Aug 02, 2021)
16-30782197-C-T		not specified	Uncertain significance (Aug 08, 2023)
16-30782292-T-C		not specified	Uncertain significance (Aug 20, 2024)
16-30782400-G-A		not specified	Uncertain significance (Aug 15, 2023)
16-30782404-T-G		not specified	Uncertain significance (Mar 04, 2024)
16-30782407-G-A		not specified	Likely benign (Nov 13, 2024)
16-30782418-G-A		not specified	Uncertain significance (Oct 11, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF629	protein_coding	protein_coding	ENST00000262525	2	8746

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000216	125640	0	6	125646	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.86	296	551	0.537	0.0000378	5653
Missense in Polyphen		100	317.61	0.31485		3087
Synonymous	2.47	211	262	0.806	0.0000209	1695
Loss of Function	4.78	1	28.5	0.0350	0.00000141	306

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000120	0.000120
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000969	0.00000880
Middle Eastern	0.00	0.00
South Asian	0.0000340	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• loftool: 0.161
• rvis_EVS: 0.04
• rvis_percentile_EVS: 57.15

Haploinsufficiency Scores

• pHI: 0.276
• hipred: Y
• hipred_score: 0.572
• ghis: 0.507

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0423

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp629

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