ZNF701

zinc finger protein 701, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:52555822-52587174

Links

ENSG00000167562 ∙ NCBI:55762 ∙ ∙ HGNC:25597 ∙ Uniprot:Q9NV72 ∙ 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 ZNF701 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF701 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			37	6		43
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	37	6	0

Variants in ZNF701

This is a list of pathogenic ClinVar variants found in the ZNF701 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-52572269-G-A		not specified	Uncertain significance (Nov 13, 2024)
19-52572344-C-T		not specified	Likely benign (Feb 06, 2023)
19-52572354-C-T		not specified	Uncertain significance (Mar 23, 2022)
19-52574106-G-A		not specified	Uncertain significance (Mar 18, 2024)
19-52574116-G-A		not specified	Uncertain significance (Apr 23, 2024)
19-52574123-G-C		not specified	Uncertain significance (Dec 07, 2024)
19-52574134-C-T		not specified	Uncertain significance (Oct 03, 2022)
19-52574145-G-T		not specified	Uncertain significance (Jul 25, 2024)
19-52574146-G-A		not specified	Uncertain significance (Jun 29, 2022)
19-52574161-A-C		not specified	Uncertain significance (Feb 27, 2023)
19-52575947-A-C		not specified	Uncertain significance (Sep 20, 2024)
19-52575947-A-G		not specified	Uncertain significance (Nov 09, 2024)
19-52582207-T-G		not specified	Uncertain significance (Apr 06, 2024)
19-52582262-T-C		not specified	Uncertain significance (Jan 30, 2024)
19-52582264-G-A		not specified	Likely benign (Jan 07, 2022)
19-52582286-T-G		not specified	Likely benign (Mar 01, 2023)
19-52582289-A-T		not specified	Uncertain significance (Mar 01, 2023)
19-52582290-T-G		not specified	Likely benign (Mar 01, 2023)
19-52582304-T-C		not specified	Uncertain significance (Dec 10, 2024)
19-52582309-G-A		not specified	Uncertain significance (Nov 09, 2024)
19-52582337-A-C		not specified	Uncertain significance (Nov 21, 2024)
19-52582376-C-T		not specified	Uncertain significance (Apr 30, 2024)
19-52582440-T-A		not specified	Uncertain significance (Sep 02, 2024)
19-52582446-G-T		not specified	Uncertain significance (Jun 11, 2021)
19-52582514-A-G		not specified	Uncertain significance (Oct 13, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF701	protein_coding	protein_coding	ENST00000540331	4	31353

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.49e-8	0.0374	125738	0	6	125744	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.10	338	286	1.18	0.0000150	3520
Missense in Polyphen		112	99.097	1.1302		1347
Synonymous	-0.689	106	97.3	1.09	0.00000486	959
Loss of Function	-1.48	9	5.32	1.69	2.25e-7	69

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000188	0.000185
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000586	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000189	0.0000176
Middle Eastern	0.0000586	0.0000544
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)

Intolerance Scores

• loftool: 0.989
• rvis_EVS: 0.29
• rvis_percentile_EVS: 71.57

Haploinsufficiency Scores

• pHI: 0.183
• hipred: N
• hipred_score: 0.112
• ghis: 0.531

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0691

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