ZSCAN32

zinc finger and SCAN domain containing 32, the group of Zinc fingers C2H2-type|SCAN domain containing

Basic information

Region (hg38): 16:3382081-3401065

Previous symbols: [ "ZNF434" ]

Links

ENSG00000140987 ∙ NCBI:54925 ∙ ∙ HGNC:20812 ∙ Uniprot:Q9NX65 ∙ 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 ZSCAN32 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZSCAN32 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			31	3		34
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	31	3	0

Variants in ZSCAN32

This is a list of pathogenic ClinVar variants found in the ZSCAN32 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-3382913-C-T		not specified	Uncertain significance (Aug 16, 2021)
16-3382947-C-G		not specified	Uncertain significance (Apr 07, 2022)
16-3382952-T-G		not specified	Uncertain significance (Sep 17, 2021)
16-3382960-C-G		not specified	Uncertain significance (Dec 06, 2021)
16-3382991-C-T		not specified	Likely benign (Dec 13, 2023)
16-3383033-C-T		not specified	Uncertain significance (Jul 12, 2023)
16-3383039-G-A		not specified	Uncertain significance (Jul 26, 2022)
16-3383109-T-C		not specified	Uncertain significance (Feb 06, 2023)
16-3383127-A-G		not specified	Uncertain significance (Jan 17, 2023)
16-3383128-C-A		not specified	Uncertain significance (Jan 17, 2023)
16-3383145-C-T		not specified	Uncertain significance (May 17, 2023)
16-3383168-A-G		not specified	Uncertain significance (May 23, 2024)
16-3383174-C-T		not specified	Uncertain significance (Jan 04, 2022)
16-3383216-T-C		not specified	Uncertain significance (Nov 07, 2022)
16-3383264-C-T		not specified	Uncertain significance (Jul 06, 2021)
16-3383306-T-A		not specified	Uncertain significance (Nov 07, 2022)
16-3383389-T-G		not specified	Uncertain significance (Oct 25, 2022)
16-3383528-T-G		not specified	Uncertain significance (Apr 09, 2022)
16-3383550-T-C		not specified	Uncertain significance (Feb 15, 2023)
16-3383558-C-T		not specified	Uncertain significance (Aug 13, 2021)
16-3383585-C-T		not specified	Uncertain significance (Feb 28, 2023)
16-3383622-A-G		not specified	Uncertain significance (Aug 10, 2021)
16-3383651-A-C		not specified	Likely benign (Jan 08, 2024)
16-3384512-G-T		not specified	Uncertain significance (Jul 19, 2022)
16-3384578-T-A		not specified	Uncertain significance (Mar 30, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZSCAN32	protein_coding	protein_coding	ENST00000304926	3	18981

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.43e-11	0.0389	125719	0	27	125746	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.24	324	267	1.21	0.0000144	3223
Missense in Polyphen		55	48.421	1.1359		541
Synonymous	-1.58	117	97.2	1.20	0.00000512	897
Loss of Function	-0.133	16	15.4	1.04	8.45e-7	177

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.000381	0.000381
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000106	0.000105
Middle Eastern	0.000381	0.000381
South Asian	0.000196	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.0849

Intolerance Scores

• rvis_EVS: -0.29
• rvis_percentile_EVS: 33.47

Haploinsufficiency Scores

• pHI: 0.108
• hipred: N
• hipred_score: 0.112
• ghis: 0.520

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

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