ZNF763

zinc finger protein 763, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:11965036-11980617

Links

ENSG00000197054 ∙ NCBI:284390 ∙ ∙ HGNC:27614 ∙ Uniprot:Q0D2J5 ∙ 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 ZNF763 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF763 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			23	4	1	28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	4	2

Variants in ZNF763

This is a list of pathogenic ClinVar variants found in the ZNF763 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-11977051-G-T		not specified	Likely benign (May 09, 2023)
19-11977055-G-T		not specified	Uncertain significance (May 09, 2023)
19-11977065-G-A		not specified	Uncertain significance (Mar 06, 2023)
19-11977067-G-A			Benign (Dec 19, 2017)
19-11977140-A-G		not specified	Uncertain significance (Jul 14, 2021)
19-11977146-A-G		not specified	Uncertain significance (Jul 27, 2022)
19-11977155-A-G		not specified	Likely benign (Feb 27, 2024)
19-11977406-T-C		not specified	Uncertain significance (May 05, 2023)
19-11977423-A-T		not specified	Uncertain significance (Dec 16, 2023)
19-11978250-T-C		not specified	Uncertain significance (May 20, 2024)
19-11978270-A-C		not specified	Uncertain significance (May 31, 2023)
19-11978274-G-A		not specified	Uncertain significance (Jan 04, 2024)
19-11978308-C-A		not specified	Uncertain significance (Feb 22, 2023)
19-11978327-G-A		not specified	Uncertain significance (Dec 27, 2023)
19-11978327-G-C		not specified	Uncertain significance (Jan 22, 2024)
19-11978340-A-C		not specified	Uncertain significance (Dec 15, 2023)
19-11978355-A-C		not specified	Uncertain significance (Oct 12, 2021)
19-11978403-G-A		not specified	Uncertain significance (Jul 25, 2023)
19-11978418-A-G		not specified	Uncertain significance (Sep 06, 2022)
19-11978459-A-G		not specified	Uncertain significance (Feb 15, 2023)
19-11978493-G-A		not specified	Likely benign (Nov 18, 2022)
19-11978549-G-T			Benign (Dec 01, 2017)
19-11978655-G-A		not specified	Likely benign (Apr 25, 2022)
19-11978661-A-T		not specified	Uncertain significance (Oct 05, 2023)
19-11978673-A-T		not specified	Uncertain significance (May 23, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF763	protein_coding	protein_coding	ENST00000343949	4	55307

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0183	0.742	125741	0	4	125745	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.614	230	205	1.12	0.0000100	2652
Missense in Polyphen		26	29.156	0.89175		362
Synonymous	1.31	60	74.3	0.807	0.00000391	676
Loss of Function	0.787	3	4.87	0.615	2.07e-7	55

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.

Intolerance Scores

• loftool: 0.765
• rvis_EVS: 0.93
• rvis_percentile_EVS: 89.83

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.490

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.290

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