ZNF44

zinc finger protein 44, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:12224685-12294883

Previous symbols: [ "ZNF58", "ZNF55" ]

Links

ENSG00000197857 ∙ NCBI:51710 ∙ OMIM:194542 ∙ HGNC:13110 ∙ Uniprot:P15621 ∙ 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 ZNF44 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF44 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					2	2
missense			34	2	1	37
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2			2
Total	0	0	37	2	3

Variants in ZNF44

This is a list of pathogenic ClinVar variants found in the ZNF44 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-12272531-C-G		not specified	Uncertain significance (May 23, 2024)
19-12272546-C-A		not specified	Uncertain significance (Dec 06, 2022)
19-12272576-T-C		not specified	Uncertain significance (Mar 14, 2023)
19-12272673-C-T		not specified	Uncertain significance (Apr 15, 2024)
19-12272675-G-A		not specified	Uncertain significance (Jun 29, 2022)
19-12272743-A-G			Benign (Jun 05, 2018)
19-12272757-C-G		not specified	Uncertain significance (May 02, 2024)
19-12272761-G-GT			Uncertain significance (Sep 29, 2019)
19-12272766-T-A		not specified	Uncertain significance (Dec 03, 2021)
19-12272778-G-A		not specified	Uncertain significance (Dec 05, 2022)
19-12272784-A-C		not specified	Uncertain significance (Aug 12, 2021)
19-12272859-G-A		not specified	Uncertain significance (Aug 16, 2021)
19-12272922-C-T		not specified	Uncertain significance (Aug 28, 2023)
19-12272928-G-A			Benign (Dec 31, 2019)
19-12272963-C-T		not specified	Uncertain significance (Sep 27, 2022)
19-12272985-T-C		not specified	Uncertain significance (Apr 25, 2022)
19-12273018-T-A		not specified	Uncertain significance (Apr 20, 2024)
19-12273042-G-A		not specified	Uncertain significance (Mar 01, 2023)
19-12273093-T-C		not specified	Uncertain significance (May 29, 2024)
19-12273103-C-T		not specified	Uncertain significance (Aug 01, 2022)
19-12273126-G-A		not specified	Uncertain significance (Feb 06, 2024)
19-12273152-T-C		not specified	Uncertain significance (Jan 19, 2024)
19-12273176-G-C		not specified	Uncertain significance (Nov 09, 2023)
19-12273232-T-C		not specified	Uncertain significance (Feb 26, 2024)
19-12273248-G-C		not specified	Uncertain significance (Jun 11, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF44	protein_coding	protein_coding	ENST00000356109	5	70202

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00257	0.800	125612	1	118	125731	0.000473

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.561	319	348	0.915	0.0000174	4413
Missense in Polyphen		128	147.71	0.86656		1981
Synonymous	0.990	104	118	0.884	0.00000569	1162
Loss of Function	1.05	5	8.25	0.606	4.36e-7	91

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000907	0.0000905
Ashkenazi Jewish	0.00	0.00
East Asian	0.000489	0.000489
Finnish	0.000416	0.000416
European (Non-Finnish)	0.000800	0.000791
Middle Eastern	0.000489	0.000489
South Asian	0.0000653	0.0000653
Other	0.00114	0.00114

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.0943

Intolerance Scores

• loftool: 0.959
• rvis_EVS: 0.64
• rvis_percentile_EVS: 84.1

Haploinsufficiency Scores

• pHI: 0.471
• hipred: N
• hipred_score: 0.112
• ghis: 0.539

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0826

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