ZNF865

zinc finger protein 865, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:55605646-55617269

Links

ENSG00000261221 ∙ NCBI:100507290 ∙ ∙ HGNC:38705 ∙ Uniprot:P0CJ78 ∙ 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 ZNF865 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF865 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			40	2		42
nonsense			1			1
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	42	3	0

Variants in ZNF865

This is a list of pathogenic ClinVar variants found in the ZNF865 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-55613684-C-G		not specified	Uncertain significance (May 10, 2024)
19-55613714-C-A		not specified	Uncertain significance (Aug 26, 2022)
19-55613815-C-T		not specified	Uncertain significance (Nov 30, 2022)
19-55613872-T-C		not specified	Uncertain significance (Jan 30, 2024)
19-55613892-C-T		not specified	Uncertain significance (May 20, 2024)
19-55613961-T-C		not specified	Uncertain significance (Mar 30, 2024)
19-55613973-G-C		not specified	Uncertain significance (Apr 27, 2022)
19-55614003-G-A		not specified	Uncertain significance (Jul 19, 2022)
19-55614160-C-T		not specified	Uncertain significance (Nov 17, 2022)
19-55614199-C-T		not specified	Uncertain significance (May 17, 2023)
19-55614251-C-T			Likely benign (Oct 01, 2022)
19-55614384-G-A		not specified	Uncertain significance (Mar 04, 2024)
19-55614454-C-T		not specified	Uncertain significance (Jan 05, 2022)
19-55614496-C-T		not specified	Uncertain significance (Sep 07, 2022)
19-55614574-C-T		not specified	Uncertain significance (Dec 27, 2022)
19-55614597-G-A		not specified	Uncertain significance (May 26, 2024)
19-55614621-G-T		not specified	Uncertain significance (Feb 14, 2023)
19-55614621-GGT-G			Uncertain significance (Nov 14, 2023)
19-55614633-C-T		not specified	Uncertain significance (Feb 21, 2024)
19-55614639-C-T		not specified	Uncertain significance (Jun 08, 2022)
19-55614648-G-A		not specified	Uncertain significance (Jun 03, 2022)
19-55614834-C-T		not specified	Uncertain significance (May 15, 2024)
19-55614838-T-G		not specified	Uncertain significance (May 20, 2024)
19-55615012-C-T		not specified	Uncertain significance (Jun 13, 2024)
19-55615044-G-C		not specified	Uncertain significance (Jul 31, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF865	protein_coding	protein_coding	ENST00000568956	1	11865

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.998	0.00186	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.91	251	496	0.506	0.0000402	6612
Missense in Polyphen		31	122.57	0.25292		1320
Synonymous	2.35	195	242	0.807	0.0000228	2333
Loss of Function	3.97	0	18.4	0.00	8.90e-7	258

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	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. {ECO:0000250}.

Haploinsufficiency Scores

• ghis: 0.459

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp865

Gene ontology

• Cellular component: nucleus
• Molecular function: DNA binding;metal ion binding