ZSCAN12

zinc finger and SCAN domain containing 12, the group of Zinc fingers C2H2-type|SCAN domain containing

Basic information

Region (hg38): 6:28378954-28399747

Previous symbols: [ "ZNF305", "ZNF96" ]

Links

ENSG00000158691 ∙ NCBI:9753 ∙ OMIM:603978 ∙ HGNC:13172 ∙ Uniprot:O43309 ∙ 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 ZSCAN12 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZSCAN12 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			34	1		35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	34	1	0

Variants in ZSCAN12

This is a list of pathogenic ClinVar variants found in the ZSCAN12 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-28390483-G-A		not specified	Uncertain significance (Jun 16, 2022)
6-28390557-C-T		not specified	Uncertain significance (Aug 02, 2021)
6-28390587-A-C		not specified	Uncertain significance (Sep 01, 2021)
6-28390645-C-T		not specified	Uncertain significance (Aug 17, 2021)
6-28390742-C-G		not specified	Uncertain significance (Feb 10, 2023)
6-28390776-G-A		not specified	Uncertain significance (Feb 22, 2023)
6-28390830-T-C		not specified	Uncertain significance (Feb 07, 2023)
6-28390831-G-A		not specified	Uncertain significance (Mar 22, 2022)
6-28390873-C-T		not specified	Uncertain significance (Nov 22, 2021)
6-28390890-T-A		not specified	Uncertain significance (Apr 25, 2022)
6-28390941-G-C		not specified	Uncertain significance (May 20, 2024)
6-28391064-G-A		not specified	Uncertain significance (Feb 02, 2022)
6-28391097-C-T		not specified	Uncertain significance (Mar 02, 2023)
6-28391139-T-C		not specified	Uncertain significance (Jan 02, 2024)
6-28391163-T-C		not specified	Uncertain significance (Mar 01, 2023)
6-28391194-C-A		not specified	Uncertain significance (Jun 22, 2021)
6-28391244-T-C		not specified	Uncertain significance (Jan 19, 2024)
6-28391304-G-A		not specified	Uncertain significance (Sep 06, 2022)
6-28391329-T-G		not specified	Uncertain significance (Apr 07, 2022)
6-28391355-C-T		not specified	Uncertain significance (Apr 25, 2022)
6-28391361-G-T		not specified	Uncertain significance (Aug 02, 2021)
6-28391377-C-T		not specified	Uncertain significance (Dec 06, 2021)
6-28391550-G-A		not specified	Uncertain significance (Jan 27, 2022)
6-28391550-G-C		not specified	Uncertain significance (May 03, 2023)
6-28391605-G-C		not specified	Uncertain significance (Jun 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZSCAN12	protein_coding	protein_coding	ENST00000361028	4	20780

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.11e-7	0.973	125702	0	29	125731	0.000115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.90	222	317	0.699	0.0000163	3995
Missense in Polyphen		86	110.36	0.77923		1425
Synonymous	2.56	78	113	0.693	0.00000582	1073
Loss of Function	2.09	15	26.7	0.562	0.00000154	320

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000573	0.000553
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000546	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000889	0.0000879
Middle Eastern	0.0000546	0.0000544
South Asian	0.000205	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.

Recessive Scores

• pRec: 0.0915

Haploinsufficiency Scores

• pHI: 0.635
• hipred: N
• hipred_score: 0.112
• ghis: 0.407

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.743

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zscan12

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