ZNF175

zinc finger protein 175, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:51571283-51592510

Links

ENSG00000105497 ∙ NCBI:7728 ∙ OMIM:601139 ∙ HGNC:12964 ∙ Uniprot:Q9Y473 ∙ 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 ZNF175 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF175 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			55	4		59
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	55	4	0

Variants in ZNF175

This is a list of pathogenic ClinVar variants found in the ZNF175 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-51573365-G-C		not specified	Uncertain significance (Feb 06, 2023)
19-51573399-G-A		not specified	Uncertain significance (Dec 15, 2022)
19-51581418-G-A		not specified	Likely benign (May 23, 2023)
19-51581419-T-C		not specified	Uncertain significance (Dec 09, 2024)
19-51581476-G-A		not specified	Likely benign (Mar 29, 2022)
19-51581476-G-C		not specified	Uncertain significance (Oct 25, 2023)
19-51581511-G-T		not specified	Likely benign (Dec 01, 2022)
19-51581790-A-T		not specified	Uncertain significance (Nov 29, 2023)
19-51581871-A-G		not specified	Uncertain significance (Sep 29, 2022)
19-51586632-G-A		not specified	Uncertain significance (Sep 01, 2024)
19-51586694-G-T		not specified	Uncertain significance (Dec 10, 2024)
19-51586714-A-G		not specified	Uncertain significance (Mar 28, 2024)
19-51586762-G-A		not specified	Likely benign (May 15, 2024)
19-51586875-A-G		not specified	Uncertain significance (Feb 28, 2023)
19-51586888-C-T		not specified	Uncertain significance (Nov 26, 2024)
19-51586969-G-T		not specified	Uncertain significance (Jun 01, 2023)
19-51586984-A-G		not specified	Uncertain significance (Aug 12, 2022)
19-51587007-G-A		not specified	Uncertain significance (Jan 03, 2024)
19-51587007-G-T		not specified	Uncertain significance (Jul 05, 2022)
19-51587010-G-T		not specified	Uncertain significance (Oct 01, 2024)
19-51587011-T-C		not specified	Uncertain significance (Dec 14, 2022)
19-51587040-T-C		not specified	Uncertain significance (Mar 18, 2024)
19-51587080-C-T		not specified	Uncertain significance (Aug 20, 2024)
19-51587098-A-G		not specified	Uncertain significance (Feb 15, 2023)
19-51587112-T-C		not specified	Uncertain significance (Mar 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF175	protein_coding	protein_coding	ENST00000262259	4	18441

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.27e-7	0.948	124909	12	827	125748	0.00334

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.785	333	376	0.886	0.0000181	4769
Missense in Polyphen		108	124.55	0.8671		1577
Synonymous	1.38	119	140	0.851	0.00000746	1233
Loss of Function	1.91	15	25.4	0.591	0.00000122	339

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00137	0.00137
Ashkenazi Jewish	0.00	0.00
East Asian	0.0380	0.0380
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.000467	0.000466
Middle Eastern	0.0380	0.0380
South Asian	0.00186	0.00186
Other	0.00261	0.00261

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Down-regulates the expression of several chemokine receptors. Interferes with HIV-1 replication by suppressing Tat- induced viral LTR promoter activity. {ECO:0000269|PubMed:14688346}.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.0890

Intolerance Scores

• loftool: 0.797
• rvis_EVS: -0.02
• rvis_percentile_EVS: 52.25

Haploinsufficiency Scores

• pHI: 0.0575
• hipred: N
• hipred_score: 0.174
• ghis: 0.537

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.729

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp715
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;positive regulation of transcription by RNA polymerase II;defense response to virus
• Cellular component: nucleoplasm;cytosol;intermediate filament cytoskeleton
• Molecular function: RNA polymerase II regulatory region sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;DNA-binding transcription factor activity;protein binding;metal ion binding