ZSCAN30

zinc finger and SCAN domain containing 30, the group of SCAN domain containing|Zinc fingers C2H2-type

Basic information

Region (hg38): 18:35251057-35290245

Previous symbols: [ "ZNF397OS" ]

Links

ENSG00000186814 ∙ NCBI:100101467 ∙ ∙ HGNC:33517 ∙ Uniprot:Q86W11 ∙ 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 ZSCAN30 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZSCAN30 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			24	3		27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	24	3	0

Variants in ZSCAN30

This is a list of pathogenic ClinVar variants found in the ZSCAN30 region.

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

Position	Type	Phenotype	Significance	ClinVar
18-35253550-A-T		not specified	Uncertain significance (Aug 11, 2022)
18-35253568-A-C		not specified	Uncertain significance (May 23, 2023)
18-35253579-C-G		not specified	Uncertain significance (Jan 19, 2024)
18-35253592-T-A		not specified	Uncertain significance (Aug 22, 2023)
18-35253634-A-G		not specified	Uncertain significance (Oct 18, 2021)
18-35253667-C-T		not specified	Uncertain significance (Jun 02, 2023)
18-35253671-A-C		not specified	Uncertain significance (Nov 06, 2023)
18-35253697-T-C		not specified	Uncertain significance (Dec 15, 2023)
18-35253748-C-T		not specified	Uncertain significance (Sep 06, 2022)
18-35253808-C-T		not specified	Uncertain significance (Aug 16, 2022)
18-35253866-A-C		not specified	Uncertain significance (Nov 14, 2023)
18-35253905-G-A		not specified	Uncertain significance (Feb 02, 2022)
18-35254000-T-C		not specified	Uncertain significance (Apr 12, 2023)
18-35254066-G-C		not specified	Uncertain significance (Mar 24, 2023)
18-35254093-C-A		not specified	Uncertain significance (Jan 03, 2022)
18-35254103-T-A		not specified	Uncertain significance (May 02, 2024)
18-35254310-T-C		not specified	Uncertain significance (Dec 13, 2022)
18-35254371-C-A		not specified	Uncertain significance (Jan 04, 2022)
18-35263578-G-A		not specified	Uncertain significance (May 26, 2024)
18-35263650-G-A		not specified	Uncertain significance (Jun 17, 2024)
18-35263988-A-G		not specified	Uncertain significance (Aug 30, 2022)
18-35264018-C-T		not specified	Likely benign (Feb 21, 2024)
18-35264020-A-C		not specified	Uncertain significance (Dec 28, 2022)
18-35264031-G-C		not specified	Likely benign (Jul 14, 2021)
18-35264132-C-T		not specified	Uncertain significance (Oct 13, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZSCAN30	protein_coding	protein_coding	ENST00000420878	3	39165

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.99e-13	0.0344	125613	0	135	125748	0.000537

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0736	256	259	0.987	0.0000128	3265
Missense in Polyphen		60	72.7	0.82531		896
Synonymous	0.992	81	93.2	0.869	0.00000448	913
Loss of Function	0.105	19	19.5	0.974	9.96e-7	250

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00101	0.000970
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.00174	0.00174
Finnish	0.000508	0.000508
European (Non-Finnish)	0.000301	0.000299
Middle Eastern	0.00174	0.00174
South Asian	0.00101	0.00101
Other	0.000989	0.000978

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• rvis_EVS: 0.75
• rvis_percentile_EVS: 86.65

Haploinsufficiency Scores

• pHI: 0.110
• hipred: N
• hipred_score: 0.112
• ghis: 0.425

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zscan30

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