ZNF575

zinc finger protein 575, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:43525496-43536130

Links

ENSG00000176472 ∙ NCBI:284346 ∙ ∙ HGNC:27606 ∙ Uniprot:Q86XF7 ∙ 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 ZNF575 gene.

• Inborn genetic diseases (9 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF575 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			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	1	0

Variants in ZNF575

This is a list of pathogenic ClinVar variants found in the ZNF575 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-43525944-C-G			Likely benign (Jun 28, 2018)
19-43526060-A-G			Benign (Jun 28, 2018)
19-43526151-T-G			Likely benign (Dec 13, 2019)
19-43526181-G-T		Ethylmalonic encephalopathy	Likely benign (Jan 29, 2024)
19-43526182-G-T		not specified • Ethylmalonic encephalopathy	Likely benign (Jan 02, 2024)
19-43526184-C-CCCAG		Ethylmalonic encephalopathy	Likely benign (Dec 19, 2023)
19-43526189-C-T		Ethylmalonic encephalopathy	Likely benign (Jan 29, 2024)
19-43526191-C-A		Ethylmalonic encephalopathy	Likely benign (Aug 14, 2023)
19-43526191-C-T		Ethylmalonic encephalopathy	Likely benign (Aug 19, 2021)
19-43526192-C-G		Ethylmalonic encephalopathy	Likely benign (Apr 24, 2023)
19-43526194-A-G		Ethylmalonic encephalopathy	Likely benign (Oct 18, 2023)
19-43526196-C-T		Ethylmalonic encephalopathy	Pathogenic/Likely pathogenic (Jul 21, 2023)
19-43526200-C-A		Ethylmalonic encephalopathy	Likely pathogenic (Jun 01, 2022)
19-43526204-G-A		Ethylmalonic encephalopathy	Likely benign (Jun 17, 2020)
19-43526205-C-A		Ethylmalonic encephalopathy	Uncertain significance (Aug 18, 2020)
19-43526207-C-T		Ethylmalonic encephalopathy	Likely benign (May 05, 2022)
19-43526210-G-A		Ethylmalonic encephalopathy	Likely benign (Sep 04, 2023)
19-43526219-G-A		Ethylmalonic encephalopathy	Likely benign (Oct 14, 2023)
19-43526220-G-A		Ethylmalonic encephalopathy	Uncertain significance (Aug 26, 2021)
19-43526225-T-C		Ethylmalonic encephalopathy	Likely benign (Jan 02, 2024)
19-43526233-C-G		Ethylmalonic encephalopathy	Uncertain significance (Nov 01, 2022)
19-43526236-T-A		not specified • Ethylmalonic encephalopathy • Inborn genetic diseases	Likely benign (Jan 31, 2024)
19-43526237-G-A		Ethylmalonic encephalopathy	Likely benign (Jul 19, 2022)
19-43526239-G-A		Ethylmalonic encephalopathy	Uncertain significance (Sep 02, 2021)
19-43526243-G-A		Ethylmalonic encephalopathy	Likely benign (Nov 28, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF575	protein_coding	protein_coding	ENST00000314228	2	10634

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.115	0.788	125411	0	8	125419	0.0000319

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.875	132	163	0.807	0.0000114	1530
Missense in Polyphen		66	90.093	0.73258		791
Synonymous	1.62	59	77.2	0.765	0.00000600	531
Loss of Function	1.31	2	5.22	0.383	3.04e-7	66

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.000111	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000366	0.0000265
Middle Eastern	0.000111	0.000109
South Asian	0.0000659	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• loftool: 0.662
• rvis_EVS: -0.23
• rvis_percentile_EVS: 36.86

Haploinsufficiency Scores

• pHI: 0.139
• hipred: N
• hipred_score: 0.338
• ghis: 0.564

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0405

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp575

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