ZNF891

zinc finger protein 891, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 12:133104778-133130274

Links

ENSG00000214029 ∙ NCBI:101060200 ∙ ∙ HGNC:38709 ∙ Uniprot:A8MT65 ∙ 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 ZNF891 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF891 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			18			18
Total	0	0	18	0	0

Variants in ZNF891

This is a list of pathogenic ClinVar variants found in the ZNF891 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-133105548-A-G		not specified	Uncertain significance (Nov 12, 2021)
12-133105690-G-A		not specified	Uncertain significance (Dec 28, 2022)
12-133105701-G-A		not specified	Uncertain significance (May 26, 2022)
12-133105945-A-C		not specified	Uncertain significance (Apr 04, 2024)
12-133105990-C-T		not specified	Uncertain significance (Dec 14, 2022)
12-133106023-A-T		not specified	Uncertain significance (Aug 13, 2021)
12-133106112-G-A		not specified	Uncertain significance (Aug 01, 2022)
12-133106146-G-A		not specified	Uncertain significance (May 06, 2024)
12-133106149-A-T		not specified	Uncertain significance (Oct 20, 2021)
12-133106153-G-T		not specified	Uncertain significance (Dec 05, 2022)
12-133106185-G-C		not specified	Uncertain significance (Jul 14, 2021)
12-133106209-G-T		not specified	Uncertain significance (Mar 29, 2022)
12-133106211-C-T		not specified	Uncertain significance (Mar 29, 2022)
12-133106212-G-A		not specified	Uncertain significance (Aug 08, 2022)
12-133106260-C-G		not specified	Uncertain significance (May 11, 2022)
12-133106271-A-C		not specified	Uncertain significance (Jun 19, 2024)
12-133106280-A-G		not specified	Uncertain significance (Jun 07, 2023)
12-133106325-A-G		not specified	Uncertain significance (May 04, 2022)
12-133106337-G-A		not specified	Uncertain significance (Dec 16, 2023)
12-133106343-C-T		not specified	Uncertain significance (Dec 16, 2023)
12-133106367-A-C		not specified	Uncertain significance (Mar 20, 2024)
12-133106611-A-C		not specified	Uncertain significance (Apr 26, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF891	protein_coding	protein_coding	ENST00000537226	1	12320

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.13e-7	0.694	116957	0	2	116959	0.00000855

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.25	209	266	0.784	0.0000117	3632
Missense in Polyphen		48	70.508	0.68077		980
Synonymous	2.29	64	91.9	0.696	0.00000429	924
Loss of Function	1.16	12	17.2	0.698	7.16e-7	262

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000319	0.0000319
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000172	0.000171

dbNSFP

Source: dbNSFP

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

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.132
• ghis: 0.539

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

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