ZNF740

zinc finger protein 740, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 12:53180704-53195142

Links

ENSG00000139651 ∙ NCBI:283337 ∙ ∙ HGNC:27465 ∙ Uniprot:Q8NDX6 ∙ 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 ZNF740 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF740 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			4			4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			16	3	6	25
Total	0	0	20	3	6

Variants in ZNF740

This is a list of pathogenic ClinVar variants found in the ZNF740 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-53184952-A-C		not specified	Uncertain significance (Aug 10, 2021)
12-53184985-A-C		not specified	Uncertain significance (Jun 17, 2022)
12-53185450-T-C		not specified	Uncertain significance (Apr 14, 2022)
12-53187567-T-G		not specified	Uncertain significance (Jan 23, 2024)
12-53191634-G-C		not specified	Uncertain significance (May 06, 2022)
12-53191865-C-A		not specified	Uncertain significance (Aug 22, 2023)
12-53191891-C-G		not specified	Uncertain significance (Apr 01, 2024)
12-53191897-G-A		not specified	Uncertain significance (Jan 29, 2024)
12-53191909-G-A		not specified	Uncertain significance (May 13, 2024)
12-53191929-G-A		not specified	Uncertain significance (Oct 02, 2023)
12-53191935-C-T		not specified	Uncertain significance (Oct 27, 2022)
12-53191947-A-G		not specified	Uncertain significance (Mar 01, 2023)
12-53192004-G-A		not specified	Uncertain significance (Jun 10, 2024)
12-53192341-C-T		not specified	Uncertain significance (Jun 17, 2024)
12-53192459-T-G		not specified	Uncertain significance (Mar 27, 2023)
12-53192471-G-A			Benign (May 21, 2018)
12-53192479-G-C		not specified	Uncertain significance (Nov 18, 2022)
12-53192490-G-A			Benign (Dec 31, 2019)
12-53192701-C-T		not specified	Uncertain significance (Oct 12, 2022)
12-53192735-T-C			Benign (Dec 31, 2019)
12-53192752-C-T			Benign (Mar 29, 2018)
12-53192784-C-T		not specified	Likely benign (Jan 16, 2024)
12-53192893-A-G		not specified	Uncertain significance (Dec 20, 2021)
12-53192902-G-A		not specified	Uncertain significance (Jun 11, 2024)
12-53193163-C-T		not specified	Uncertain significance (Oct 13, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF740	protein_coding	protein_coding	ENST00000416904	6	10113

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.190	0.800	123703	0	1	123704	0.00000404

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.18	78	113	0.688	0.00000665	1274
Missense in Polyphen		3	7.8991	0.37979		77
Synonymous	0.635	35	40.1	0.872	0.00000224	341
Loss of Function	2.22	3	10.9	0.274	6.14e-7	121

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
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: 0.314
• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.11

Haploinsufficiency Scores

• pHI: 0.426
• hipred: N
• hipred_score: 0.318
• ghis: 0.433

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.754

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp740

Gene ontology

• Biological process: positive regulation of transcription by RNA polymerase II
• Cellular component: nucleoplasm
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription factor activity;transcription regulatory region DNA binding;metal ion binding