ZNF831

zinc finger protein 831, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 20:59123380-59259113

Previous symbols: [ "C20orf174" ]

Links

ENSG00000124203 ∙ NCBI:128611 ∙ ∙ HGNC:16167 ∙ Uniprot:Q5JPB2 ∙ 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 ZNF831 gene.

• Inborn genetic diseases (83 variants)
• not provided (15 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF831 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				2	5	7
missense			75	8	7	90
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	75	10	12

Variants in ZNF831

This is a list of pathogenic ClinVar variants found in the ZNF831 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-59191096-C-T		not specified	Uncertain significance (Nov 21, 2023)
20-59191125-A-T		not specified	Uncertain significance (Jan 20, 2023)
20-59191165-C-T		not specified	Uncertain significance (Jul 06, 2022)
20-59191166-C-A			Benign (Oct 17, 2017)
20-59191170-C-T		not specified	Uncertain significance (Apr 06, 2023)
20-59191171-C-A		not specified	Uncertain significance (Oct 20, 2023)
20-59191171-C-G		not specified	Uncertain significance (Oct 05, 2023)
20-59191192-T-C		not specified	Uncertain significance (Nov 21, 2022)
20-59191213-C-T		not specified	Uncertain significance (Jan 06, 2023)
20-59191239-C-G		not specified	Uncertain significance (Feb 13, 2024)
20-59191266-G-C		not specified	Uncertain significance (May 17, 2023)
20-59191317-C-T		not specified	Uncertain significance (May 24, 2023)
20-59191405-G-A		not specified	Uncertain significance (Oct 18, 2021)
20-59191411-C-G		not specified	Uncertain significance (Sep 27, 2021)
20-59191624-T-C		not specified	Uncertain significance (Sep 15, 2021)
20-59191647-G-A		not specified	Uncertain significance (Jul 20, 2022)
20-59191683-G-C		not specified	Uncertain significance (Oct 26, 2022)
20-59191816-C-T		not specified	Likely benign (Jul 26, 2022)
20-59191834-C-A		not specified	Uncertain significance (Sep 26, 2023)
20-59191882-C-T			Benign (Aug 01, 2022)
20-59191930-A-G		not specified	Uncertain significance (Oct 06, 2021)
20-59191986-G-A		not specified	Uncertain significance (May 10, 2022)
20-59191996-C-T		not specified	Uncertain significance (Feb 14, 2023)
20-59192098-G-A		not specified	Uncertain significance (Jan 31, 2024)
20-59192104-C-A		not specified	Uncertain significance (Aug 17, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF831	protein_coding	protein_coding	ENST00000371030	5	68094

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.87e-10	0.999	124659	2	126	124787	0.000513

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.542	931	979	0.951	0.0000593	10571
Missense in Polyphen		190	229.41	0.82822		2399
Synonymous	0.971	406	432	0.941	0.0000287	3730
Loss of Function	2.92	22	42.5	0.518	0.00000221	496

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00320	0.00319
Ashkenazi Jewish	0.000119	0.0000993
East Asian	0.00	0.00
Finnish	0.000278	0.000186
European (Non-Finnish)	0.000178	0.000159
Middle Eastern	0.00	0.00
South Asian	0.000277	0.000261
Other	0.000895	0.000825

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.656
• rvis_EVS: 1.33
• rvis_percentile_EVS: 94.11

Haploinsufficiency Scores

• pHI: 0.0714
• hipred: N
• hipred_score: 0.200
• ghis: 0.385

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0788

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp831

Gene ontology

• Molecular function: nucleic acid binding;metal ion binding