ZNF705A

zinc finger protein 705A, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 12:8157015-8188537

Links

ENSG00000196946 ∙ NCBI:440077 ∙ ∙ HGNC:32281 ∙ Uniprot:Q6ZN79 ∙ 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 ZNF705A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF705A 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			19			19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	0	0

Variants in ZNF705A

This is a list of pathogenic ClinVar variants found in the ZNF705A region.

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

Position	Type	Phenotype	Significance	ClinVar
12-8174347-G-A		not specified	Uncertain significance (Aug 26, 2022)
12-8174425-G-A		not specified	Uncertain significance (Dec 13, 2023)
12-8175271-A-C		not specified	Uncertain significance (Dec 17, 2021)
12-8175272-G-C		not specified	Uncertain significance (Oct 05, 2023)
12-8175898-A-G		not specified	Uncertain significance (Jan 30, 2024)
12-8175905-C-T		not specified	Uncertain significance (Apr 12, 2024)
12-8175931-A-G		not specified	Uncertain significance (Aug 08, 2022)
12-8175938-C-A		not specified	Uncertain significance (Jun 22, 2024)
12-8177099-G-T		not specified	Uncertain significance (Jan 23, 2024)
12-8177107-C-T		not specified	Uncertain significance (Dec 20, 2023)
12-8177144-A-G		not specified	Uncertain significance (Aug 02, 2021)
12-8177197-C-A		not specified	Uncertain significance (Dec 19, 2023)
12-8177234-T-G		not specified	Uncertain significance (Apr 19, 2023)
12-8177245-C-T		not specified	Uncertain significance (Apr 17, 2023)
12-8177335-G-A		not specified	Uncertain significance (Aug 21, 2023)
12-8177369-G-A		not specified	Uncertain significance (Jun 23, 2023)
12-8177404-A-T		not specified	Uncertain significance (Feb 06, 2024)
12-8177479-C-G		not specified	Uncertain significance (Jan 29, 2024)
12-8177543-T-C		not specified	Uncertain significance (Jul 14, 2021)
12-8177545-T-C		not specified	Uncertain significance (Mar 31, 2024)
12-8177572-G-A		not specified	Uncertain significance (Feb 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF705A	protein_coding	protein_coding	ENST00000359286	5	50401

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000645	0.513	109227	0	4	109231	0.0000183

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.392	162	149	1.09	0.00000737	1979
Missense in Polyphen		23	17.643	1.3036		241
Synonymous	-0.426	54	50.2	1.08	0.00000253	518
Loss of Function	0.285	5	5.74	0.872	2.42e-7	88

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)	0.0000288	0.0000288
Middle Eastern	0.00	0.00
South Asian	0.0000407	0.0000407
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)

Intolerance Scores

• loftool: 0.742
• rvis_EVS: 0.7
• rvis_percentile_EVS: 85.42

Haploinsufficiency Scores

• pHI: 0.195
• hipred: N
• hipred_score: 0.241

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: 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

Mouse Genome Informatics

• Gene name: Clec4a1

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