ZNF174

zinc finger protein 174, the group of Zinc fingers C2H2-type|SCAN domain containing

Basic information

Region (hg38): 16:3401215-3409364

Links

ENSG00000103343 ∙ NCBI:7727 ∙ OMIM:603900 ∙ HGNC:12963 ∙ Uniprot:Q15697 ∙ 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 ZNF174 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF174 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			27			27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	1	0

Variants in ZNF174

This is a list of pathogenic ClinVar variants found in the ZNF174 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-3402089-G-C		not specified	Uncertain significance (Oct 03, 2022)
16-3402167-C-G		not specified	Uncertain significance (Sep 03, 2024)
16-3402200-C-G		not specified	Uncertain significance (Jan 27, 2022)
16-3402302-C-T		not specified	Uncertain significance (Sep 06, 2022)
16-3402318-G-A		not specified	Uncertain significance (Apr 26, 2023)
16-3402384-C-G		not specified	Uncertain significance (Aug 17, 2022)
16-3404447-C-A		not specified	Uncertain significance (Jan 16, 2024)
16-3404453-G-T		not specified	Uncertain significance (Jul 30, 2024)
16-3404507-C-G		not specified	Uncertain significance (Oct 20, 2023)
16-3404512-G-A		EBV-positive nodal T- and NK-cell lymphoma	Likely benign (-)
16-3404519-C-T		not specified	Uncertain significance (May 11, 2022)
16-3404540-A-G		not specified	Uncertain significance (Sep 29, 2022)
16-3404541-G-C		not specified	Uncertain significance (Sep 27, 2021)
16-3404542-C-A		not specified	Uncertain significance (Nov 14, 2024)
16-3404555-C-T		not specified	Uncertain significance (Sep 17, 2021)
16-3404588-C-A		not specified	Uncertain significance (Dec 19, 2022)
16-3404607-C-G		not specified	Uncertain significance (Oct 04, 2022)
16-3404613-T-C		not specified	Uncertain significance (Jul 19, 2023)
16-3404620-A-C		not specified	Uncertain significance (Dec 27, 2023)
16-3408376-A-C		not specified	Uncertain significance (Dec 15, 2023)
16-3408447-G-A		not specified	Uncertain significance (Nov 03, 2023)
16-3408467-C-T		not specified	Uncertain significance (Mar 17, 2023)
16-3408468-G-A		not specified	Uncertain significance (Feb 10, 2023)
16-3408476-C-T		not specified	Uncertain significance (Mar 16, 2022)
16-3408514-T-G		not specified	Uncertain significance (Mar 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF174	protein_coding	protein_coding	ENST00000268655	3	8136

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0148	0.980	125736	0	12	125748	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.560	205	229	0.896	0.0000125	2667
Missense in Polyphen		51	82.772	0.61615		1020
Synonymous	-2.09	109	84.5	1.29	0.00000433	784
Loss of Function	2.44	6	16.8	0.357	8.32e-7	201

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000905	0.0000904
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000791	0.0000791
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional repressor. {ECO:0000269|PubMed:7673192}.

Recessive Scores

• pRec: 0.133

Intolerance Scores

• loftool: 0.463
• rvis_EVS: -0.69
• rvis_percentile_EVS: 15.12

Haploinsufficiency Scores

• pHI: 0.132
• hipred: N
• hipred_score: 0.197
• ghis: 0.584

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.990

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp174

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;negative regulation of transcription, DNA-templated
• Cellular component: nucleus;nucleoplasm;cytosol;plasma membrane;actin cytoskeleton
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;DNA-binding transcription factor activity;protein homodimerization activity;sequence-specific DNA binding;transcription regulatory region DNA binding;metal ion binding