ZNF444

zinc finger protein 444, the group of Zinc fingers C2H2-type|SCAN domain containing

Basic information

Region (hg38): 19:56132599-56160893

Links

ENSG00000167685 ∙ NCBI:55311 ∙ OMIM:607874 ∙ HGNC:16052 ∙ Uniprot:Q8N0Y2 ∙ 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 ZNF444 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF444 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						0
missense			20	1		21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	1	0

Variants in ZNF444

This is a list of pathogenic ClinVar variants found in the ZNF444 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-56146973-A-G		not specified	Uncertain significance (Oct 12, 2021)
19-56147009-G-A		not specified	Uncertain significance (Aug 02, 2023)
19-56147115-C-G		not specified	Uncertain significance (Dec 13, 2023)
19-56158549-C-T		not specified	Uncertain significance (Jan 03, 2022)
19-56158560-G-A		not specified	Uncertain significance (Jun 02, 2023)
19-56158585-G-A		not specified	Uncertain significance (Jan 04, 2022)
19-56158596-C-G		not specified	Uncertain significance (Dec 27, 2023)
19-56159638-G-A		not specified	Uncertain significance (Dec 12, 2023)
19-56159648-G-T		not specified	Likely benign (Jan 30, 2024)
19-56159662-G-A		not specified	Uncertain significance (Nov 29, 2021)
19-56159678-G-A		not specified	Uncertain significance (Sep 14, 2022)
19-56159684-A-G		not specified	Uncertain significance (May 30, 2024)
19-56159694-G-T		not specified	Uncertain significance (Apr 18, 2023)
19-56159707-C-G		not specified	Uncertain significance (Dec 21, 2023)
19-56159708-C-G		not specified	Uncertain significance (Jan 20, 2023)
19-56159728-G-A		not specified	Uncertain significance (May 25, 2023)
19-56159873-A-T		not specified	Uncertain significance (Jan 23, 2023)
19-56159906-C-G		not specified	Uncertain significance (May 26, 2024)
19-56159969-C-T		not specified	Uncertain significance (Feb 07, 2023)
19-56159987-A-G		not specified	Uncertain significance (Jan 02, 2024)
19-56160023-G-A		not specified	Uncertain significance (Mar 15, 2024)
19-56160029-C-T		not specified	Uncertain significance (Jun 18, 2024)
19-56160109-C-G		not specified	Uncertain significance (Feb 15, 2023)
19-56160128-C-T		not specified	Uncertain significance (Oct 12, 2021)
19-56160158-G-T		not specified	Uncertain significance (Mar 25, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF444	protein_coding	protein_coding	ENST00000337080	3	28295

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.867	0.132	125159	0	7	125166	0.0000280

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.80	102	167	0.609	0.0000128	1995
Missense in Polyphen		26	66.619	0.39028		782
Synonymous	-0.135	79	77.5	1.02	0.00000631	699
Loss of Function	2.38	0	6.59	0.00	2.83e-7	92

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000563	0.0000546
Finnish	0.00	0.00
European (Non-Finnish)	0.0000445	0.0000442
Middle Eastern	0.0000563	0.0000546
South Asian	0.0000358	0.0000328
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional regulator. Binds to the 5'-flanking critical region of the SCARF1 promoter.

Recessive Scores

• pRec: 0.109

Haploinsufficiency Scores

• pHI: 0.167
• hipred: N
• hipred_score: 0.312
• ghis: 0.426

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.574

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp444

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;positive regulation of transcription, DNA-templated
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;metal ion binding