ZNF624

zinc finger protein 624, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 17:16620734-16653856

Links

ENSG00000197566 ∙ NCBI:57547 ∙ ∙ HGNC:29254 ∙ Uniprot:Q9P2J8 ∙ 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 ZNF624 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF624 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			35	1		36
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	35	1	0

Variants in ZNF624

This is a list of pathogenic ClinVar variants found in the ZNF624 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-16622302-T-C		not specified	Uncertain significance (Feb 16, 2023)
17-16622314-G-A		not specified	Uncertain significance (Feb 27, 2023)
17-16622317-T-C		not specified	Uncertain significance (Dec 01, 2022)
17-16622340-G-C		not specified	Uncertain significance (Dec 09, 2023)
17-16622355-G-A		not specified	Uncertain significance (Jun 06, 2023)
17-16622406-A-G		not specified	Uncertain significance (Dec 20, 2023)
17-16622562-G-C		not specified	Uncertain significance (Feb 28, 2024)
17-16622622-T-C		not specified	Uncertain significance (Jul 14, 2021)
17-16622650-G-A		not specified	Uncertain significance (Dec 26, 2023)
17-16622823-C-T		not specified	Uncertain significance (Apr 13, 2022)
17-16622833-C-T		not specified	Uncertain significance (May 26, 2022)
17-16622914-G-A		not specified	Uncertain significance (Apr 22, 2024)
17-16623147-T-G		not specified	Uncertain significance (Aug 28, 2023)
17-16623183-G-C		not specified	Uncertain significance (May 25, 2022)
17-16623187-G-A		not specified	Uncertain significance (Jun 01, 2023)
17-16623327-C-T		not specified	Uncertain significance (Jan 18, 2022)
17-16623342-A-G		not specified	Uncertain significance (May 08, 2023)
17-16623414-A-G		not specified	Uncertain significance (Jan 23, 2023)
17-16623421-C-T		not specified	Uncertain significance (Jul 09, 2021)
17-16623461-G-C		not specified	Uncertain significance (Apr 09, 2024)
17-16623615-G-A		not specified	Uncertain significance (Aug 09, 2021)
17-16623843-A-G		not specified	Uncertain significance (Sep 14, 2022)
17-16623966-T-A		not specified	Uncertain significance (Nov 21, 2022)
17-16623999-C-A		not specified	Uncertain significance (Nov 27, 2023)
17-16624029-T-C		not specified	Likely benign (Nov 18, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF624	protein_coding	protein_coding	ENST00000311331	5	33120

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0325	0.968	125619	1	119	125739	0.000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.43	307	452	0.679	0.0000215	5771
Missense in Polyphen		112	227.74	0.4918		2924
Synonymous	1.04	139	156	0.894	0.00000753	1528
Loss of Function	3.78	9	32.2	0.280	0.00000164	472

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000476	0.000475
Ashkenazi Jewish	0.00676	0.00667
East Asian	0.000222	0.000217
Finnish	0.0000464	0.0000462
European (Non-Finnish)	0.000185	0.000185
Middle Eastern	0.000222	0.000217
South Asian	0.000327	0.000327
Other	0.000654	0.000652

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• loftool: 0.685
• rvis_EVS: -0.29
• rvis_percentile_EVS: 33.34

Haploinsufficiency Scores

• pHI: 0.146
• hipred: N
• hipred_score: 0.249
• ghis: 0.527

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.179

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gm3055

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;protein binding;metal ion binding