ZNF844

zinc finger protein 844, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:12064731-12081565

Links

ENSG00000223547 ∙ NCBI:284391 ∙ ∙ HGNC:25932 ∙ Uniprot:Q08AG5 ∙ 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 ZNF844 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF844 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			56	4	1	61
nonsense						0
start loss						0
frameshift					1	1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	56	4	3

Variants in ZNF844

This is a list of pathogenic ClinVar variants found in the ZNF844 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-12074127-C-G		not specified	Uncertain significance (Oct 28, 2024)
19-12074146-T-C		not specified	Uncertain significance (Apr 07, 2022)
19-12074154-A-G		not specified	Likely benign (Jun 28, 2023)
19-12074380-G-C		not specified	Uncertain significance (Feb 28, 2023)
19-12075352-A-T		not specified	Uncertain significance (Dec 02, 2024)
19-12075472-C-G		not specified	Uncertain significance (Oct 06, 2021)
19-12075488-G-A		not specified	Uncertain significance (Dec 11, 2023)
19-12075509-C-T		not specified	Uncertain significance (Jan 12, 2024)
19-12075517-T-C		not specified	Uncertain significance (Jan 23, 2024)
19-12075556-C-T		not specified	Likely benign (Nov 08, 2024)
19-12075595-C-A		not specified	Uncertain significance (Oct 17, 2023)
19-12075683-T-C		not specified	Uncertain significance (Nov 07, 2024)
19-12075710-A-G		not specified	Uncertain significance (Dec 09, 2023)
19-12075716-G-T		not specified	Uncertain significance (Nov 21, 2024)
19-12075751-A-G		not specified	Likely benign (Oct 27, 2022)
19-12075799-T-G		not specified	Uncertain significance (Mar 14, 2025)
19-12075818-C-A		not specified	Uncertain significance (Dec 10, 2024)
19-12075818-C-G		not specified	Uncertain significance (Dec 11, 2024)
19-12075835-T-A		not specified	Uncertain significance (Feb 01, 2023)
19-12075848-A-G		not specified	Uncertain significance (Mar 31, 2024)
19-12075868-G-A		not specified	Uncertain significance (Apr 06, 2024)
19-12075881-A-C		not specified	Uncertain significance (Apr 26, 2023)
19-12075896-G-T		not specified	Uncertain significance (Jun 17, 2024)
19-12075907-G-A		not specified	Uncertain significance (Apr 24, 2024)
19-12075914-C-T		not specified	Uncertain significance (Jun 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF844	protein_coding	protein_coding	ENST00000439326	4	16867

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00206	0.523	125610	0	97	125707	0.000386

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.322	347	331	1.05	0.0000156	4392
Missense in Polyphen		45	57.998	0.77589		736
Synonymous	1.66	91	114	0.802	0.00000569	1182
Loss of Function	0.168	4	4.38	0.913	1.86e-7	57

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000367	0.000366
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000757	0.000756
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• rvis_EVS: 2.82
• rvis_percentile_EVS: 99.06

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.127

Gene Damage Prediction

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

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