ZNF230

zinc finger protein 230, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:44002957-44013924

Links

ENSG00000159882 ∙ NCBI:7773 ∙ ∙ HGNC:13024 ∙ Uniprot:Q9UIE0 ∙ 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 ZNF230 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF230 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			25	2		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	25	3	0

Variants in ZNF230

This is a list of pathogenic ClinVar variants found in the ZNF230 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-44007086-C-T		not specified	Uncertain significance (Aug 13, 2021)
19-44008794-C-G		not specified	Uncertain significance (Oct 30, 2023)
19-44008815-C-T		not specified	Uncertain significance (Dec 17, 2023)
19-44008856-G-C		not specified	Uncertain significance (Nov 01, 2021)
19-44008856-G-T		not specified	Uncertain significance (Jun 16, 2023)
19-44010271-G-A		not specified	Uncertain significance (Jan 26, 2022)
19-44010280-A-G		not specified	Likely benign (Aug 22, 2023)
19-44010293-G-A		not specified	Uncertain significance (Sep 26, 2023)
19-44010305-A-G		not specified	Uncertain significance (Jun 22, 2021)
19-44010426-A-G			Likely benign (Mar 01, 2023)
19-44010433-A-G		not specified	Uncertain significance (Mar 22, 2023)
19-44010493-G-A		not specified	Uncertain significance (Aug 02, 2021)
19-44010589-C-T		not specified	Uncertain significance (Aug 16, 2022)
19-44010600-G-T		not specified	Uncertain significance (Sep 22, 2022)
19-44010661-A-T		not specified	Uncertain significance (Dec 26, 2023)
19-44010743-G-A		not specified	Uncertain significance (Aug 21, 2023)
19-44010794-A-G		not specified	Uncertain significance (Sep 13, 2023)
19-44010800-G-C		not specified	Uncertain significance (Mar 07, 2024)
19-44010817-G-A		not specified	Uncertain significance (Jun 16, 2024)
19-44010859-C-G		not specified	Uncertain significance (Aug 16, 2022)
19-44010875-C-T		not specified	Uncertain significance (Apr 04, 2024)
19-44010895-G-A		not specified	Uncertain significance (Sep 29, 2022)
19-44010940-G-A		not specified	Uncertain significance (Oct 04, 2022)
19-44010985-G-A		not specified	Uncertain significance (Feb 03, 2022)
19-44011010-A-G		not specified	Uncertain significance (May 17, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF230	protein_coding	protein_coding	ENST00000429154	4	10979

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0832	0.770	125723	0	2	125725	0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.125	250	244	1.02	0.0000128	3170
Missense in Polyphen		61	72.732	0.83869		1045
Synonymous	1.46	70	87.3	0.802	0.00000451	819
Loss of Function	1.07	2	4.42	0.453	1.87e-7	52

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.0903

Intolerance Scores

• loftool: 0.827
• rvis_EVS: 1.6
• rvis_percentile_EVS: 95.87

Haploinsufficiency Scores

• pHI: 0.0900
• hipred: N
• hipred_score: 0.132
• ghis: 0.392

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0142

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 by RNA polymerase II
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;DNA-binding transcription factor activity;protein binding;metal ion binding