ZSCAN18

zinc finger and SCAN domain containing 18, the group of SCAN domain containing|Zinc fingers C2H2-type

Basic information

Region (hg38): 19:58083838-58118427

Previous symbols: [ "ZNF447" ]

Links

ENSG00000121413 ∙ NCBI:65982 ∙ ∙ HGNC:21037 ∙ Uniprot:Q8TBC5 ∙ 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 ZSCAN18 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZSCAN18 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			33	3		36
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	34	3	0

Variants in ZSCAN18

This is a list of pathogenic ClinVar variants found in the ZSCAN18 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-58084729-C-T		not specified	Uncertain significance (Jan 27, 2022)
19-58084732-T-C		not specified	Uncertain significance (Jul 19, 2023)
19-58084740-G-A		not specified	Uncertain significance (Jun 17, 2024)
19-58084762-C-A		not specified	Uncertain significance (Dec 17, 2023)
19-58084809-G-T		not specified	Uncertain significance (Sep 27, 2021)
19-58084810-C-T		not specified	Uncertain significance (Sep 27, 2021)
19-58084822-C-T		not specified	Uncertain significance (May 10, 2022)
19-58084825-T-C		not specified	Uncertain significance (Aug 02, 2023)
19-58084884-C-T		not specified	Uncertain significance (Sep 16, 2021)
19-58084894-C-T		not specified	Uncertain significance (Dec 19, 2022)
19-58084920-C-T		not specified	Uncertain significance (Aug 12, 2022)
19-58084924-G-A		not specified	Uncertain significance (Mar 29, 2024)
19-58084968-T-A		not specified	Uncertain significance (Sep 27, 2021)
19-58084977-G-A		not specified	Uncertain significance (Jan 30, 2024)
19-58085009-G-T		not specified	Uncertain significance (Jan 22, 2024)
19-58085014-C-G		not specified	Uncertain significance (Jan 23, 2024)
19-58085053-C-T		not specified	Likely benign (Aug 11, 2022)
19-58085061-G-C		not specified	Uncertain significance (Jan 29, 2024)
19-58085094-T-A		not specified	Uncertain significance (Mar 05, 2024)
19-58085122-T-G		not specified	Uncertain significance (Jul 19, 2023)
19-58085135-G-C		not specified	Uncertain significance (Nov 15, 2021)
19-58085186-G-T		not specified	Uncertain significance (Apr 19, 2024)
19-58085224-C-A		not specified	Uncertain significance (Feb 06, 2023)
19-58085262-G-A		not specified	Uncertain significance (Dec 14, 2023)
19-58085268-G-C		not specified	Uncertain significance (Jul 15, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZSCAN18	protein_coding	protein_coding	ENST00000600404	7	34590

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0475	0.948	125726	0	6	125732	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.427	326	348	0.936	0.0000229	3564
Missense in Polyphen		36	61.577	0.58463		745
Synonymous	-0.0766	169	168	1.01	0.0000130	1179
Loss of Function	2.49	5	15.6	0.321	6.94e-7	174

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.0000358	0.0000352
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.

Recessive Scores

• pRec: 0.0924

Intolerance Scores

• loftool: 0.385
• rvis_EVS: 0.44
• rvis_percentile_EVS: 77.91

Haploinsufficiency Scores

• pHI: 0.428
• hipred: N
• hipred_score: 0.325
• ghis: 0.458

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.987

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zscan18

Gene ontology

• Biological process: regulation of transcription, DNA-templated
• Cellular component: nucleus
• Molecular function: DNA binding;DNA-binding transcription factor activity;metal ion binding