ZNF74

zinc finger protein 74, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 22:20394115-20408461

Links

ENSG00000185252 ∙ NCBI:7625 ∙ OMIM:194548 ∙ HGNC:13144 ∙ Uniprot:Q16587 ∙ 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 ZNF74 gene.

• not_specified (92 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF74 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003426.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			87	4		91
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	87	5	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF74	protein_coding	protein_coding	ENST00000400451	5	14341

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000156	0.964	125679	0	65	125744	0.000258

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.14	371	438	0.846	0.0000307	4227
Missense in Polyphen		136	209	0.65073		2123
Synonymous	1.07	183	202	0.905	0.0000165	1241
Loss of Function	1.97	13	23.2	0.560	0.00000109	234

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000380	0.000366
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000502	0.000489
Finnish	0.00100	0.000971
European (Non-Finnish)	0.000232	0.000220
Middle Eastern	0.000502	0.000489
South Asian	0.0000342	0.0000327
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in RNA metabolism.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.115

Intolerance Scores

• loftool: 0.580
• rvis_EVS: -0.22
• rvis_percentile_EVS: 37.54

Haploinsufficiency Scores

• pHI: 0.174
• hipred: N
• hipred_score: 0.274
• ghis: 0.538

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.965

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, DNA-templated;regulation of transcription by RNA polymerase II;multicellular organism development
• Cellular component: nucleoplasm;actin cytoskeleton
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;RNA binding;metal ion binding