ZNF765

zinc finger protein 765, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:53389792-53430413

Links

ENSG00000196417 ∙ NCBI:91661 ∙ ∙ HGNC:25092 ∙ Uniprot:Q7L2R6 ∙ 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 ZNF765 gene.

• Inborn genetic diseases (20 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF765 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			19	1		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	1	0

Variants in ZNF765

This is a list of pathogenic ClinVar variants found in the ZNF765 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-53402152-G-C		not specified	Uncertain significance (Aug 28, 2023)
19-53402155-G-T		not specified	Uncertain significance (Jan 12, 2024)
19-53407719-T-C		not specified	Uncertain significance (May 18, 2023)
19-53407764-A-G		not specified	Uncertain significance (Feb 15, 2023)
19-53407838-C-A		not specified	Uncertain significance (Sep 27, 2022)
19-53407845-T-C		not specified	Uncertain significance (Jan 03, 2024)
19-53407878-G-T		not specified	Uncertain significance (Apr 14, 2023)
19-53407929-G-A		not specified	Uncertain significance (Apr 08, 2022)
19-53407952-A-T		not specified	Uncertain significance (Mar 01, 2023)
19-53407973-C-G		not specified	Uncertain significance (Sep 25, 2023)
19-53408130-A-G		not specified	Uncertain significance (Jan 08, 2024)
19-53408133-G-T		not specified	Uncertain significance (Nov 07, 2022)
19-53408144-C-G		not specified	Uncertain significance (Jun 02, 2023)
19-53408249-A-G		not specified	Uncertain significance (Jun 29, 2022)
19-53408300-G-C		not specified	Uncertain significance (Nov 13, 2023)
19-53408327-G-A		not specified	Uncertain significance (Jul 26, 2023)
19-53408423-C-T		not specified	Uncertain significance (Dec 12, 2023)
19-53408424-G-A		not specified	Uncertain significance (Dec 08, 2023)
19-53408470-C-G		not specified	Uncertain significance (Nov 07, 2022)
19-53408489-T-C		not specified	Uncertain significance (Feb 21, 2024)
19-53408505-A-G		not specified	Uncertain significance (May 08, 2023)
19-53408514-T-C		not specified	Uncertain significance (Feb 06, 2023)
19-53408592-G-A		not specified	Uncertain significance (Jul 20, 2021)
19-53408681-G-C		not specified	Likely benign (Jul 09, 2021)
19-53408759-C-T		not specified	Uncertain significance (May 09, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF765	protein_coding	protein_coding	ENST00000396408	3	37529

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000866	0.100	125711	0	10	125721	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.819	312	274	1.14	0.0000141	3500
Missense in Polyphen		63	65.486	0.96204		978
Synonymous	-0.379	103	98.2	1.05	0.00000508	884
Loss of Function	-1.62	6	2.99	2.01	1.29e-7	34

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000179	0.000178
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000887	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation. {ECO:0000250}.

Intolerance Scores

• loftool: 0.823
• rvis_EVS: 0.73
• rvis_percentile_EVS: 86.27

Haploinsufficiency Scores

• pHI: 0.0964
• hipred: N
• hipred_score: 0.112
• ghis: 0.500

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.730

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;protein binding;metal ion binding