ZNF729

zinc finger protein 729, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:22286441-22317176

Links

ENSG00000196350 ∙ NCBI:100287226 ∙ ∙ HGNC:32464 ∙ Uniprot:A6NN14 ∙ 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 ZNF729 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF729 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				2		2
missense			84	5		89
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	84	7	0

Variants in ZNF729

This is a list of pathogenic ClinVar variants found in the ZNF729 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-22303789-A-C		not specified	Uncertain significance (May 16, 2024)
19-22303798-T-C		not specified	Uncertain significance (Aug 02, 2022)
19-22303853-G-A		not specified	Uncertain significance (Sep 16, 2021)
19-22304729-C-G		not specified	Uncertain significance (Sep 14, 2023)
19-22304733-G-A		not specified	Uncertain significance (Mar 20, 2023)
19-22304756-A-G		not specified	Uncertain significance (Aug 31, 2022)
19-22304781-C-T		not specified	Uncertain significance (Apr 26, 2023)
19-22313674-T-C		not specified	Uncertain significance (Dec 01, 2022)
19-22313677-G-A		not specified	Uncertain significance (Jul 22, 2022)
19-22313707-A-G		not specified	Uncertain significance (May 18, 2023)
19-22313794-G-T		not specified	Uncertain significance (May 23, 2023)
19-22313829-G-C		not specified	Uncertain significance (Jan 19, 2024)
19-22313848-A-G		not specified	Uncertain significance (Jun 18, 2021)
19-22313901-G-C		not specified	Uncertain significance (Jul 14, 2021)
19-22313910-A-G		not specified	Uncertain significance (Nov 03, 2023)
19-22314007-G-A		not specified	Likely benign (Feb 17, 2022)
19-22314024-A-G		not specified	Uncertain significance (Apr 14, 2022)
19-22314088-C-T		not specified	Likely benign (May 10, 2024)
19-22314094-A-G		not specified	Uncertain significance (Oct 03, 2023)
19-22314145-A-G		not specified	Uncertain significance (Jun 02, 2024)
19-22314154-A-C		not specified	Uncertain significance (May 31, 2023)
19-22314231-G-A		not specified	Uncertain significance (Mar 11, 2024)
19-22314241-A-C		not specified	Uncertain significance (Feb 27, 2024)
19-22314264-A-C		not specified	Uncertain significance (Mar 16, 2022)
19-22314294-A-G		not specified	Uncertain significance (May 31, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF729	protein_coding	protein_coding	ENST00000601693	4	30769

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.396	0.567	125052	0	3	125055	0.0000120

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.59	704	595	1.18	0.0000269	8257
Missense in Polyphen		226	204.91	1.1029		2975
Synonymous	-1.80	234	201	1.16	0.00000946	2090
Loss of Function	1.66	1	5.00	0.200	2.11e-7	63

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)	0.0000265	0.0000265
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
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)

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.177

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp738

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