ZNF75A

zinc finger protein 75A, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 16:3305405-3318852

Links

ENSG00000162086 ∙ NCBI:7627 ∙ OMIM:601473 ∙ HGNC:13146 ∙ Uniprot:Q96N20 ∙ 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 ZNF75A gene.

• Inborn genetic diseases (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF75A 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			8	3		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	3	0

Variants in ZNF75A

This is a list of pathogenic ClinVar variants found in the ZNF75A region.

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

Position	Type	Phenotype	Significance	ClinVar
16-3316980-G-A		not specified	Uncertain significance (Nov 09, 2022)
16-3316987-C-T		not specified	Likely benign (Jul 05, 2023)
16-3317207-G-A		not specified	Uncertain significance (Jan 19, 2024)
16-3317267-G-A		not specified	Likely benign (Aug 10, 2021)
16-3317292-A-G		not specified	Uncertain significance (Mar 07, 2024)
16-3317309-G-A		not specified	Likely benign (Jan 05, 2022)
16-3317401-A-T		not specified	Uncertain significance (Jul 20, 2022)
16-3317412-T-C		not specified	Uncertain significance (Jul 16, 2021)
16-3317420-A-G		not specified	Uncertain significance (Jan 04, 2022)
16-3317426-C-T		not specified	Uncertain significance (Jun 30, 2022)
16-3317450-G-C		not specified	Uncertain significance (Oct 05, 2023)
16-3317676-A-G		not specified	Uncertain significance (Dec 27, 2023)
16-3317742-G-A		not specified	Uncertain significance (Aug 10, 2021)
16-3317768-C-T		not specified	Uncertain significance (Aug 23, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF75A	protein_coding	protein_coding	ENST00000574298	3	13447

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00220	0.926	125726	0	20	125746	0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.00624	154	154	0.999	0.00000738	1978
Missense in Polyphen		41	48.318	0.84854		654
Synonymous	-0.738	59	52.2	1.13	0.00000251	500
Loss of Function	1.57	6	11.8	0.507	4.96e-7	165

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000617	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000150	0.000149
Middle Eastern	0.00	0.00
South Asian	0.0000653	0.0000653
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)

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.570
• rvis_EVS: -0.05
• rvis_percentile_EVS: 49.76

Haploinsufficiency Scores

• pHI: 0.125
• hipred: N
• hipred_score: 0.218
• ghis: 0.590

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.843

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;biological_process
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;molecular_function;DNA binding;metal ion binding