ZSCAN31

zinc finger and SCAN domain containing 31, the group of Zinc fingers C2H2-type|SCAN domain containing

Basic information

Region (hg38): 6:28324693-28356271

Previous symbols: [ "ZNF310P", "ZNF323" ]

Links

ENSG00000235109 ∙ NCBI:64288 ∙ OMIM:610794 ∙ HGNC:14097 ∙ Uniprot:Q96LW9 ∙ 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 ZSCAN31 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZSCAN31 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			12	2		14
nonsense						0
start loss						0
frameshift					1	1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	13	2	1

Variants in ZSCAN31

This is a list of pathogenic ClinVar variants found in the ZSCAN31 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-28326215-C-T		not specified	Uncertain significance (Sep 15, 2021)
6-28326338-C-T		not specified	Uncertain significance (Jan 10, 2023)
6-28326350-G-C		not specified	Uncertain significance (Mar 16, 2024)
6-28326431-CCT-C			Benign (Sep 28, 2017)
6-28326497-C-T		not specified	Uncertain significance (Feb 27, 2024)
6-28326527-C-T		not specified	Uncertain significance (May 14, 2024)
6-28326528-G-A		not specified	Uncertain significance (Nov 17, 2023)
6-28326554-C-T		not specified	Likely benign (Dec 19, 2022)
6-28326627-G-A		not specified	Uncertain significance (Dec 16, 2022)
6-28326674-C-T		not specified	Uncertain significance (Oct 04, 2022)
6-28326778-A-C		not specified	Uncertain significance (May 13, 2024)
6-28326786-A-T		not specified	Uncertain significance (Jan 23, 2024)
6-28327397-T-C		not specified	Uncertain significance (Mar 07, 2023)
6-28327413-A-T		not specified	Uncertain significance (Mar 15, 2024)
6-28327466-T-C		not specified	Uncertain significance (Feb 27, 2023)
6-28327503-C-T		not specified	Uncertain significance (Jul 07, 2022)
6-28329373-G-A		not specified	Uncertain significance (Aug 11, 2022)
6-28329452-T-C		not specified	Uncertain significance (May 08, 2024)
6-28329508-C-T		not specified	Uncertain significance (Jun 18, 2021)
6-28329527-G-T		not specified	Uncertain significance (Aug 02, 2021)
6-28329608-G-A		not specified	Likely benign (Mar 02, 2023)
6-28329623-A-T		not specified	Uncertain significance (Mar 18, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZSCAN31	protein_coding	protein_coding	ENST00000414429	3	31579

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.65e-8	0.564	124074	10	1664	125748	0.00668

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0842	209	212	0.984	0.0000114	2684
Missense in Polyphen		67	65.649	1.0206		848
Synonymous	-0.372	80	75.9	1.05	0.00000354	742
Loss of Function	1.07	14	19.0	0.736	0.00000132	191

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0123	0.0122
Ashkenazi Jewish	0.000595	0.000595
East Asian	0.00288	0.00283
Finnish	0.0104	0.0104
European (Non-Finnish)	0.00695	0.00694
Middle Eastern	0.00288	0.00283
South Asian	0.00558	0.00554
Other	0.00558	0.00555

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May function as a transcription factor. May be involved in the development of multiple embryonic organs.

Intolerance Scores

• rvis_EVS: 1
• rvis_percentile_EVS: 90.62

Haploinsufficiency Scores

• pHI: 0.0890
• hipred: N
• hipred_score: 0.153
• ghis: 0.402

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;metal ion binding