ZNF391

zinc finger protein 391, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 6:27374615-27403908

Links

ENSG00000124613 ∙ NCBI:346157 ∙ ∙ HGNC:18779 ∙ Uniprot:Q9UJN7 ∙ 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 ZNF391 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF391 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			16	2		18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	2	0

Variants in ZNF391

This is a list of pathogenic ClinVar variants found in the ZNF391 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-27400459-G-A		not specified	Uncertain significance (Apr 20, 2024)
6-27400465-C-T		not specified	Uncertain significance (Nov 10, 2022)
6-27400546-G-A		not specified	Uncertain significance (Jan 26, 2023)
6-27400552-A-G		not specified	Uncertain significance (Jul 20, 2021)
6-27400586-C-G		not specified	Uncertain significance (Jan 26, 2022)
6-27400587-G-A		not specified	Likely benign (Sep 06, 2022)
6-27400618-C-T		not specified	Uncertain significance (Apr 26, 2024)
6-27400674-C-A		not specified	Uncertain significance (Sep 25, 2023)
6-27400675-T-C		not specified	Uncertain significance (Jan 03, 2024)
6-27400764-G-A		not specified	Likely benign (Dec 27, 2023)
6-27400785-T-C		not specified	Uncertain significance (Jun 17, 2024)
6-27400843-C-A		not specified	Uncertain significance (Feb 27, 2023)
6-27400948-A-G		not specified	Uncertain significance (Aug 23, 2021)
6-27400981-G-A		not specified	Uncertain significance (Mar 26, 2024)
6-27401056-C-G		not specified	Uncertain significance (Mar 24, 2023)
6-27401067-C-T		not specified	Uncertain significance (Feb 05, 2024)
6-27401119-A-C		not specified	Uncertain significance (Aug 12, 2021)
6-27401138-A-C		not specified	Uncertain significance (Dec 06, 2022)
6-27401148-T-C		not specified	Uncertain significance (Jun 03, 2022)
6-27401181-C-A		not specified	Uncertain significance (Oct 10, 2023)
6-27401233-G-A		not specified	Uncertain significance (Apr 04, 2024)
6-27401286-G-A		not specified	Uncertain significance (Apr 27, 2024)
6-27401332-T-C		not specified	Uncertain significance (Aug 11, 2022)
6-27401355-G-A		not specified	Uncertain significance (Dec 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF391	protein_coding	protein_coding	ENST00000244576	1	29290

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.45e-8	0.263	125315	0	114	125429	0.000455

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.584	169	192	0.881	0.00000953	2379
Missense in Polyphen		47	61.389	0.76561		724
Synonymous	1.48	51	66.4	0.768	0.00000339	642
Loss of Function	0.439	12	13.8	0.872	9.99e-7	150

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00315	0.00310
Ashkenazi Jewish	0.00	0.00
East Asian	0.000491	0.000489
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.000389	0.000388
Middle Eastern	0.000491	0.000489
South Asian	0.000131	0.000131
Other	0.000165	0.000164

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation. {ECO:0000250}.

Intolerance Scores

• loftool: 0.726
• rvis_EVS: -0.31
• rvis_percentile_EVS: 31.93

Haploinsufficiency Scores

• pHI: 0.0523
• hipred: N
• hipred_score: 0.112
• ghis: 0.555

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0620

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