ZSCAN25

zinc finger and SCAN domain containing 25, the group of Zinc fingers C2H2-type|SCAN domain containing

Basic information

Region (hg38): 7:99616945-99632408

Previous symbols: [ "ZNF498" ]

Links

ENSG00000197037 ∙ NCBI:221785 ∙ ∙ HGNC:21961 ∙ Uniprot:Q6NSZ9 ∙ 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 ZSCAN25 gene.

• Inborn genetic diseases (26 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZSCAN25 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	1		25
nonsense						0
start loss			1			1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	1	0

Variants in ZSCAN25

This is a list of pathogenic ClinVar variants found in the ZSCAN25 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-99619616-G-A		not specified	Uncertain significance (May 11, 2022)
7-99619622-C-T		not specified	Uncertain significance (Oct 26, 2021)
7-99619628-A-G		not specified	Uncertain significance (Nov 09, 2021)
7-99619654-G-T		not specified	Uncertain significance (Dec 03, 2021)
7-99619656-G-A		not specified	Uncertain significance (Sep 20, 2023)
7-99619658-A-G		not specified	Likely benign (Jan 09, 2024)
7-99619752-G-A		not specified	Uncertain significance (Jan 19, 2024)
7-99619812-G-A		not specified	Likely benign (Oct 06, 2021)
7-99619892-C-T		not specified	Uncertain significance (Oct 26, 2021)
7-99619920-A-G		not specified	Uncertain significance (Dec 19, 2023)
7-99621409-G-A		not specified	Uncertain significance (Jun 10, 2022)
7-99621431-A-T		not specified	Uncertain significance (Apr 25, 2022)
7-99621488-G-C		not specified	Uncertain significance (May 30, 2023)
7-99621529-C-T		not specified	Uncertain significance (Feb 16, 2023)
7-99622554-C-T		not specified	Uncertain significance (Aug 12, 2021)
7-99622567-C-T		not specified	Uncertain significance (Mar 28, 2023)
7-99622591-A-G		not specified	Uncertain significance (Mar 05, 2024)
7-99622630-C-T		not specified	Uncertain significance (Dec 14, 2021)
7-99624139-T-C		not specified	Uncertain significance (Feb 27, 2024)
7-99629211-G-A		not specified	Uncertain significance (Jan 03, 2022)
7-99629215-C-T		not specified	Uncertain significance (May 04, 2022)
7-99629250-G-C		not specified	Uncertain significance (Jan 23, 2023)
7-99629263-C-T		not specified	Uncertain significance (Feb 28, 2023)
7-99629275-G-C		not specified	Uncertain significance (Jun 27, 2022)
7-99629304-G-A		not specified	Uncertain significance (Oct 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZSCAN25	protein_coding	protein_coding	ENST00000394152	5	15462

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000193	0.995	125727	0	21	125748	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.28	255	319	0.799	0.0000194	3540
Missense in Polyphen		91	134.6	0.67609		1531
Synonymous	-1.24	150	132	1.14	0.00000815	1075
Loss of Function	2.48	10	22.8	0.439	0.00000115	253

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000174	0.000174
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000115	0.000114
Middle Eastern	0.00	0.00
South Asian	0.0000328	0.0000327
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation. {ECO:0000250}.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.103

Intolerance Scores

• rvis_EVS: -0.2
• rvis_percentile_EVS: 39.11

Haploinsufficiency Scores

• pHI: 0.177
• hipred: N
• hipred_score: 0.304
• ghis: 0.536

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zscan25

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