ZNF845

zinc finger protein 845, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:53333749-53356906

Links

ENSG00000213799 ∙ NCBI:91664 ∙ ∙ HGNC:25112 ∙ Uniprot:Q96IR2 ∙ 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 ZNF845 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF845 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				4		4
missense			84		1	85
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	84	4	1

Variants in ZNF845

This is a list of pathogenic ClinVar variants found in the ZNF845 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-53341315-T-C		not specified	Uncertain significance (Dec 07, 2024)
19-53345526-T-C			Likely benign (Dec 31, 2019)
19-53345559-G-A			Likely benign (Apr 09, 2018)
19-53345584-C-T			Likely benign (Dec 31, 2019)
19-53345596-G-A		not specified	Uncertain significance (Dec 19, 2022)
19-53350847-T-G		not specified	Likely benign (Dec 17, 2024)
19-53350869-A-G		not specified	Uncertain significance (Jan 10, 2025)
19-53350904-C-T		not specified	Uncertain significance (Jan 23, 2024)
19-53350910-C-A		not specified	Likely benign (Feb 07, 2025)
19-53350920-T-G		not specified	Uncertain significance (Jul 09, 2024)
19-53350998-G-A		not specified	Uncertain significance (Mar 29, 2022)
19-53351007-C-T		not specified	Uncertain significance (Feb 02, 2022)
19-53351013-T-C		not specified	Uncertain significance (Sep 10, 2024)
19-53351034-C-T		not specified	Uncertain significance (Feb 07, 2025)
19-53351049-G-T		not specified	Uncertain significance (Dec 04, 2021)
19-53351081-A-G		not specified	Uncertain significance (Jun 26, 2023)
19-53351112-C-T			Benign (Dec 31, 2019)
19-53351156-G-A		not specified	Uncertain significance (Mar 16, 2024)
19-53351234-C-A		not specified	Uncertain significance (Dec 20, 2023)
19-53351274-C-T		not specified	Uncertain significance (Feb 12, 2024)
19-53351328-A-T		not specified	Uncertain significance (Sep 24, 2024)
19-53351375-C-G		not specified	Uncertain significance (Jun 10, 2024)
19-53351385-A-G		not specified	Uncertain significance (Dec 11, 2024)
19-53351492-T-C		not specified	Uncertain significance (Dec 22, 2024)
19-53351493-G-A		not specified	Uncertain significance (Jun 09, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF845	protein_coding	protein_coding	ENST00000458035	3	21121

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000959	0.373	125699	0	46	125745	0.000183

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.121	520	512	1.01	0.0000272	6466
Missense in Polyphen		195	212.86	0.91608		2859
Synonymous	-0.726	184	172	1.07	0.00000849	1682
Loss of Function	-0.391	4	3.24	1.23	1.38e-7	35

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000173	0.000173
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.00000881	0.00000879
Middle Eastern	0.0000544	0.0000544
South Asian	0.00126	0.00124
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• rvis_EVS: 1.84
• rvis_percentile_EVS: 97.09

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.408

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.276

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gm31526

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