ZNF70

zinc finger protein 70, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 22:23738682-23751112

Links

ENSG00000187792 ∙ NCBI:7621 ∙ OMIM:194544 ∙ HGNC:13140 ∙ Uniprot:Q9UC06 ∙ 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 ZNF70 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF70 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					3	3
missense			53			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	53	0	3

Variants in ZNF70

This is a list of pathogenic ClinVar variants found in the ZNF70 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-23743816-G-T		not specified	Uncertain significance (Dec 01, 2022)
22-23743868-C-T		not specified	Uncertain significance (Jan 23, 2025)
22-23743873-A-G		not specified	Uncertain significance (Mar 28, 2024)
22-23743889-G-C		not specified	Uncertain significance (Jan 09, 2024)
22-23743934-G-A		not specified	Uncertain significance (Oct 11, 2024)
22-23743940-G-A		not specified	Uncertain significance (Sep 17, 2021)
22-23743958-C-T		not specified	Uncertain significance (Aug 14, 2023)
22-23743963-G-C		not specified	Uncertain significance (Feb 12, 2025)
22-23744054-G-A		not specified	Uncertain significance (Oct 07, 2024)
22-23744116-C-T		not specified	Uncertain significance (Nov 30, 2021)
22-23744135-A-G		not specified	Uncertain significance (Nov 22, 2022)
22-23744150-T-C		not specified	Uncertain significance (Jan 09, 2025)
22-23744161-C-A		not specified	Uncertain significance (Aug 15, 2023)
22-23744170-A-G		not specified	Uncertain significance (Nov 09, 2024)
22-23744171-T-C		not specified	Uncertain significance (Mar 29, 2023)
22-23744176-T-C		not specified	Uncertain significance (Dec 01, 2022)
22-23744201-C-T		not specified	Uncertain significance (Oct 24, 2024)
22-23744226-C-A		not specified	Uncertain significance (Jul 25, 2023)
22-23744242-C-T		not specified	Uncertain significance (Aug 17, 2022)
22-23744251-C-T		not specified	Uncertain significance (Mar 29, 2024)
22-23744294-C-T		not specified	Uncertain significance (Jan 22, 2025)
22-23744329-C-T		not specified	Uncertain significance (Nov 17, 2022)
22-23744338-C-T		not specified	Uncertain significance (Jun 14, 2023)
22-23744402-T-C		not specified	Uncertain significance (Mar 18, 2024)
22-23744414-C-T		not specified	Uncertain significance (Jun 21, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF70	protein_coding	protein_coding	ENST00000341976	1	9511

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00237	0.983	125715	0	33	125748	0.000131

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.413	243	262	0.928	0.0000157	2980
Missense in Polyphen		99	114.43	0.86513		1288
Synonymous	-1.43	126	107	1.18	0.00000711	810
Loss of Function	2.14	7	16.3	0.429	9.40e-7	179

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000333	0.000333
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000185	0.000185
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)

Intolerance Scores

• loftool: 0.414
• rvis_EVS: -0.53
• rvis_percentile_EVS: 20.7

Haploinsufficiency Scores

• pHI: 0.168
• hipred: N
• hipred_score: 0.198
• ghis: 0.565

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.893

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