ZNF700

zinc finger protein 700, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:11925067-11950773

Links

ENSG00000196757 ∙ NCBI:90592 ∙ ∙ HGNC:25292 ∙ Uniprot:Q9H0M5 ∙ 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 ZNF700 gene.

• Inborn genetic diseases (31 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF700 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				1		1
missense			28	3		31
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	28	4	0

Variants in ZNF700

This is a list of pathogenic ClinVar variants found in the ZNF700 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-11925214-C-G		not specified	Uncertain significance (May 27, 2022)
19-11925247-C-T		not specified	Likely benign (Jan 16, 2024)
19-11947181-G-A		not specified	Uncertain significance (Apr 22, 2022)
19-11947268-G-A		not specified	Uncertain significance (Dec 14, 2023)
19-11947546-G-C		not specified	Uncertain significance (Nov 07, 2023)
19-11947550-A-G		not specified	Uncertain significance (Jun 16, 2023)
19-11948278-G-C		not specified	Uncertain significance (Jul 13, 2021)
19-11948301-G-A		not specified	Uncertain significance (Nov 07, 2023)
19-11948307-A-G		not specified	Uncertain significance (Jun 07, 2023)
19-11948310-G-C		not specified	Uncertain significance (Dec 07, 2021)
19-11948323-G-T		not specified	Uncertain significance (Sep 15, 2021)
19-11948470-C-T		not specified	Likely benign (Sep 16, 2021)
19-11948481-G-A		not specified	Uncertain significance (Jun 12, 2023)
19-11948521-G-T		not specified	Uncertain significance (Aug 15, 2023)
19-11948537-T-G		not specified	Uncertain significance (Dec 06, 2022)
19-11948613-A-G		not specified	Uncertain significance (Jul 14, 2022)
19-11948734-A-G		not specified	Likely benign (Dec 20, 2021)
19-11948750-A-C		not specified	Uncertain significance (Jan 30, 2024)
19-11948769-C-T		not specified	Uncertain significance (Nov 06, 2023)
19-11948791-G-T		not specified	Uncertain significance (Feb 02, 2022)
19-11948880-G-A		not specified	Uncertain significance (Feb 28, 2023)
19-11948899-C-G		not specified	Uncertain significance (Dec 26, 2023)
19-11948935-A-G		not specified	Uncertain significance (Mar 02, 2023)
19-11948965-C-T		not specified	Uncertain significance (Dec 21, 2022)
19-11948988-C-T		not specified	Uncertain significance (Jan 30, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF700	protein_coding	protein_coding	ENST00000254321	4	25706

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00277	0.587	125652	2	83	125737	0.000338

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.12	449	387	1.16	0.0000181	4941
Missense in Polyphen		126	139.06	0.90609		1854
Synonymous	-0.920	143	130	1.10	0.00000604	1271
Loss of Function	0.364	4	4.87	0.822	2.06e-7	58

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00499	0.00484
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000265	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.0000654	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: 0.921
• rvis_EVS: 0.16
• rvis_percentile_EVS: 64.92

Haploinsufficiency Scores

• pHI: 0.112
• hipred: N
• hipred_score: 0.112
• ghis: 0.499

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.137

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gm7762

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