ZFP91

ZFP91 zinc finger protein, atypical E3 ubiquitin ligase, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 11:58579063-58621550

Links

ENSG00000186660 ∙ NCBI:80829 ∙ OMIM:619289 ∙ HGNC:14983 ∙ Uniprot:Q96JP5 ∙ 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 ZFP91 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZFP91 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			32			32
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	32	0	0

Variants in ZFP91

This is a list of pathogenic ClinVar variants found in the ZFP91 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-58579324-G-A		not specified	Uncertain significance (May 03, 2023)
11-58579334-G-A		not specified	Uncertain significance (Dec 20, 2023)
11-58579334-G-T		not specified	Uncertain significance (Dec 12, 2023)
11-58579376-G-A		not specified	Uncertain significance (Apr 07, 2023)
11-58579409-G-A		not specified	Uncertain significance (Dec 12, 2023)
11-58579414-A-C		not specified	Uncertain significance (Oct 02, 2023)
11-58579421-G-A		not specified	Uncertain significance (Aug 21, 2023)
11-58579448-G-A		not specified	Uncertain significance (Dec 03, 2021)
11-58579480-G-T		not specified	Uncertain significance (Oct 26, 2022)
11-58579532-C-T		not specified	Uncertain significance (Nov 09, 2023)
11-58579536-C-G		not specified	Uncertain significance (May 18, 2022)
11-58579559-G-C		not specified	Uncertain significance (Feb 06, 2024)
11-58579567-C-G		not specified	Uncertain significance (Jul 27, 2021)
11-58579588-T-G		not specified	Uncertain significance (Aug 30, 2021)
11-58579612-C-T		not specified	Uncertain significance (Jan 09, 2024)
11-58609859-G-A		not specified	Uncertain significance (Jul 31, 2023)
11-58609886-A-T		not specified	Uncertain significance (Jan 26, 2023)
11-58609907-C-T		not specified	Uncertain significance (Nov 10, 2021)
11-58609947-G-T		not specified	Uncertain significance (Feb 28, 2024)
11-58609961-A-G		not specified	Uncertain significance (Dec 27, 2023)
11-58609985-G-A		not specified	Uncertain significance (Sep 17, 2021)
11-58611729-C-T		not specified	Uncertain significance (Jan 02, 2024)
11-58612292-G-A		not specified	Uncertain significance (Feb 16, 2023)
11-58617326-G-A		not specified	Uncertain significance (Jun 06, 2023)
11-58617395-G-A		not specified	Uncertain significance (Jul 13, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZFP91	protein_coding	protein_coding	ENST00000316059	11	41932

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000303	124508	0	5	124513	0.0000201

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.63	215	294	0.732	0.0000159	3659
Missense in Polyphen		60	128.59	0.46659		1523
Synonymous	-0.917	119	107	1.11	0.00000554	1104
Loss of Function	4.69	1	27.6	0.0362	0.00000160	352

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000291	0.0000291
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.00000901	0.00000898
Middle Eastern	0.000163	0.000163
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Atypical E3 ubiquitin-protein ligase that mediates 'Lys- 63'-linked ubiquitination of MAP3K14/NIK, leading to stabilize and activate MAP3K14/NIK. It thereby acts as an activator of the non- canonical NF-kappa-B2/NFKB2 pathway. May also play an important role in cell proliferation and/or anti-apoptosis. {ECO:0000269|PubMed:12738986, ECO:0000269|PubMed:20682767}.

Recessive Scores

• pRec: 0.281

Intolerance Scores

• loftool: 0.213
• rvis_EVS: 0.37
• rvis_percentile_EVS: 75.29

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.459
• ghis: 0.415

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: K
• gene_indispensability_pred: E
• gene_indispensability_score: 0.925

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp91

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;activation of NF-kappaB-inducing kinase activity;protein K63-linked ubiquitination
• Cellular component: nucleus;nucleolus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;nucleic acid binding;ubiquitin-protein transferase activity;metal ion binding