ZCCHC24

zinc finger CCHC-type containing 24, the group of Zinc fingers 3CxxC-type|Zinc fingers CCHC-type

Basic information

Region (hg38): 10:79382324-79445624

Previous symbols: [ "C10orf56" ]

Links

ENSG00000165424 ∙ NCBI:219654 ∙ ∙ HGNC:26911 ∙ Uniprot:Q8N2G6 ∙ 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 ZCCHC24 gene.

• Inborn genetic diseases (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZCCHC24 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			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	0	0

Variants in ZCCHC24

This is a list of pathogenic ClinVar variants found in the ZCCHC24 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-79386438-G-T		not specified	Uncertain significance (Aug 08, 2022)
10-79432631-C-T		not specified	Uncertain significance (Apr 25, 2023)
10-79432661-A-G		not specified	Uncertain significance (May 17, 2023)
10-79432707-T-C		not specified	Uncertain significance (Apr 25, 2022)
10-79432746-T-C		not specified	Uncertain significance (Apr 19, 2023)
10-79432751-C-G		not specified	Uncertain significance (Sep 20, 2023)
10-79432751-C-T		not specified	Uncertain significance (Apr 20, 2023)
10-79445204-C-G		not specified	Uncertain significance (Mar 12, 2024)
10-79445221-T-C		not specified	Uncertain significance (Jan 02, 2024)
10-79445352-T-C		not specified	Uncertain significance (Dec 13, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZCCHC24	protein_coding	protein_coding	ENST00000372336	4	63303

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.942	0.0578	120072	0	1	120073	0.00000416

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.91	69	130	0.530	0.00000802	1558
Missense in Polyphen		38	74.024	0.51335		790
Synonymous	0.201	57	59.0	0.967	0.00000395	457
Loss of Function	2.78	0	9.01	0.00	3.83e-7	126

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000299	0.0000299
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

Recessive Scores

• pRec: 0.116

Haploinsufficiency Scores

• pHI: 0.347
• hipred: Y
• hipred_score: 0.538
• ghis: 0.636

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.307

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zcchc24

Gene ontology

• Molecular function: RNA binding;zinc ion binding