ZFP91-CNTF

ZFP91-CNTF readthrough (NMD candidate)

Basic information

Region (hg38): 11:58579172-58624639

Links

ENSG00000255073 ∙ NCBI:386607 ∙ ∙ HGNC:33441 ∙ ∙ ∙ 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-CNTF gene.

• Inborn genetic diseases (31 variants)
• not provided (2 variants)
• CILIARY NEUROTROPHIC FACTOR POLYMORPHISM (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZFP91-CNTF 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)					1	1
splice region						0
non coding			31	1	1	33
Total	0	0	31	1	2

Variants in ZFP91-CNTF

This is a list of pathogenic ClinVar variants found in the ZFP91-CNTF 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

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.394

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.283

Gene ontology

• Molecular function: nucleic acid binding