ZNF831

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

Basic information

Region (hg38): 20:59123381-59259113

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.

• not_specified (222 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. These statistics are base on transcript: NM_000178457.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3	5	8
missense			201	20	6	227
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	201	23	11

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