ZNF91

zinc finger protein 91, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:23304991-23395471

Links

ENSG00000167232 ∙ NCBI:7644 ∙ OMIM:603971 ∙ HGNC:13166 ∙ Uniprot:Q05481 ∙ 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 ZNF91 gene.

• not_specified (148 variants)
• not_provided (7 variants)
• Congenital_nephrotic_syndrome (1 variants)
• EBV-positive_nodal_T-_and_NK-cell_lymphoma (1 variants)
• Cataract (1 variants)
• Retinal_dystrophy (1 variants)
• Microcephaly (1 variants)
• Microphthalmia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF91 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003430.4. 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				4	1	5
missense			145	5	1	151
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	146	9	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF91	protein_coding	protein_coding	ENST00000300619	4	90570

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.439	0.534	119731	0	2	119733	0.00000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.555	627	589	1.06	0.0000270	7819
Missense in Polyphen		244	233.2	1.0463		3172
Synonymous	-2.09	241	203	1.19	0.00000957	2079
Loss of Function	1.76	1	5.44	0.184	2.30e-7	66

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000323	0.0000323
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000908	0.00000908
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcription factor specifically required to repress SINE-VNTR-Alu (SVA) retrotransposons: recognizes and binds SVA sequences and represses their expression by recruiting a repressive complex containing TRIM28/KAP1 (PubMed:25274305). May also bind the promoter of the FCGR2B gene, leading to repress its expression; however, additional evidences are required to confirm this result in vivo (PubMed:11470777). {ECO:0000269|PubMed:25274305, ECO:0000305|PubMed:11470777}.

Intolerance Scores

• loftool: 0.716
• rvis_EVS: 2.14
• rvis_percentile_EVS: 97.97

Haploinsufficiency Scores

• pHI: 0.105
• hipred: N
• hipred_score: 0.273
• ghis: 0.416

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.125

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp869

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;negative regulation of transcription, DNA-templated;negative regulation of transposon integration
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;DNA-binding transcription factor activity;zinc ion binding