ZNF727

zinc finger protein 727, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 7:64045429-64114556

Previous symbols: [ "ZNF727P" ]

Links

ENSG00000214652 ∙ NCBI:442319 ∙ ∙ HGNC:22785 ∙ Uniprot:A8MUV8 ∙ 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 ZNF727 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF727 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			29	4	3	36
nonsense					1	1
start loss						0
frameshift					1	1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	29	4	5

Variants in ZNF727

This is a list of pathogenic ClinVar variants found in the ZNF727 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-64068891-C-T			Benign (Dec 31, 2019)
7-64068892-G-A		not specified	Uncertain significance (Oct 06, 2023)
7-64068904-T-C		not specified	Uncertain significance (May 24, 2024)
7-64068915-G-A		not specified	Uncertain significance (Oct 29, 2021)
7-64068967-G-A		not specified	Likely benign (Feb 26, 2024)
7-64069010-C-G		not specified	Uncertain significance (Jan 24, 2024)
7-64077296-G-A			Benign (Dec 31, 2019)
7-64077384-G-A		not specified	Likely benign (Dec 21, 2022)
7-64077449-C-G		not specified	Uncertain significance (Dec 02, 2022)
7-64077460-G-T		not specified	Likely benign (Feb 14, 2023)
7-64077504-A-G		not specified	Uncertain significance (Aug 30, 2021)
7-64077537-A-G		not specified	Uncertain significance (Feb 05, 2024)
7-64077614-A-G		not specified	Uncertain significance (Aug 26, 2022)
7-64077695-A-T		not specified	Uncertain significance (Oct 26, 2022)
7-64077707-A-G		not specified	Uncertain significance (Nov 21, 2023)
7-64077747-G-A		not specified	Uncertain significance (Dec 12, 2023)
7-64077750-G-A		not specified	Uncertain significance (Nov 08, 2022)
7-64077764-T-G		not specified	Uncertain significance (Aug 17, 2022)
7-64077773-GC-G			Benign (Apr 07, 2018)
7-64077813-C-T		not specified	Uncertain significance (Jan 29, 2024)
7-64077835-C-G			Likely benign (Jul 06, 2018)
7-64077857-G-C		not specified	Uncertain significance (Mar 14, 2023)
7-64077861-T-G		not specified	Uncertain significance (Feb 23, 2023)
7-64077911-G-A		not specified	Uncertain significance (Jan 23, 2023)
7-64077979-A-C		not specified	Uncertain significance (Jun 24, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation. {ECO:0000250}.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Intolerance Scores

• rvis_EVS: 2.35
• rvis_percentile_EVS: 98.41

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

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