ZNF623

zinc finger protein 623, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 8:143636019-143656418

Links

ENSG00000183309 ∙ NCBI:9831 ∙ ∙ HGNC:29084 ∙ Uniprot:O75123 ∙ 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 ZNF623 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF623 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			19	2		21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1			1
non coding						0
Total	0	0	19	2	0

Variants in ZNF623

This is a list of pathogenic ClinVar variants found in the ZNF623 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-143649891-G-T		not specified	Uncertain significance (Aug 08, 2023)
8-143650164-A-G		not specified	Likely benign (Jul 08, 2022)
8-143650270-C-T		not specified	Uncertain significance (Nov 12, 2021)
8-143650279-C-T		not specified	Uncertain significance (Jan 26, 2022)
8-143650292-G-C		not specified	Uncertain significance (Dec 14, 2022)
8-143650327-C-T		not specified	Uncertain significance (Oct 29, 2021)
8-143650470-G-A		not specified	Uncertain significance (Mar 23, 2023)
8-143650624-T-C		not specified	Uncertain significance (Apr 25, 2023)
8-143650645-C-T		not specified	Uncertain significance (Dec 15, 2023)
8-143650779-C-T		not specified	Uncertain significance (Oct 05, 2023)
8-143650914-G-A		not specified	Uncertain significance (Dec 12, 2023)
8-143650921-A-G		not specified	Uncertain significance (Sep 14, 2023)
8-143650936-G-A		not specified	Uncertain significance (Dec 03, 2021)
8-143650960-C-A		not specified	Uncertain significance (Feb 16, 2023)
8-143651061-C-G		not specified	Uncertain significance (Jan 04, 2024)
8-143651104-C-T		not specified	Uncertain significance (Dec 04, 2023)
8-143651166-G-A		not specified	Uncertain significance (Nov 29, 2021)
8-143651314-A-G		not specified	Uncertain significance (Feb 16, 2023)
8-143651338-G-A		not specified	Uncertain significance (Nov 01, 2022)
8-143651393-G-C		not specified	Likely benign (Oct 20, 2023)
8-143651434-A-C		not specified	Uncertain significance (Oct 27, 2023)
8-143651434-A-G		not specified	Uncertain significance (May 24, 2024)
8-143651458-A-C		not specified	Uncertain significance (Apr 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF623	protein_coding	protein_coding	ENST00000501748	1	17718

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000693	0.735	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.851	257	298	0.861	0.0000161	3566
Missense in Polyphen		105	132.39	0.79313		1580
Synonymous	-1.28	132	115	1.15	0.00000679	980
Loss of Function	1.14	10	14.7	0.680	6.85e-7	210

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)	0.00	0.00
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.

Intolerance Scores

• loftool: 0.627
• rvis_EVS: 0.15
• rvis_percentile_EVS: 64.74

Haploinsufficiency Scores

• pHI: 0.0419
• hipred: N
• hipred_score: 0.201
• ghis: 0.571

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.207

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp623

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