KLF14

KLF transcription factor 14, the group of Kruppel like factors|Zinc fingers C2H2-type

Basic information

Region (hg38): 7:130730697-130734207

Links

ENSG00000266265 ∙ NCBI:136259 ∙ OMIM:609393 ∙ HGNC:23025 ∙ Uniprot:Q8TD94 ∙ 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 KLF14 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KLF14 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			29			29
nonsense						0
start loss						0
frameshift						0
inframe indel				1		1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	29	1	0

Variants in KLF14

This is a list of pathogenic ClinVar variants found in the KLF14 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-130733069-C-G		not specified	Uncertain significance (Dec 28, 2022)
7-130733085-G-GCGC		KLF14-related disorder	Likely benign (Jun 06, 2023)
7-130733087-G-A		not specified	Uncertain significance (Oct 03, 2022)
7-130733090-G-A		not specified	Uncertain significance (Jun 03, 2022)
7-130733111-G-A		not specified	Uncertain significance (Nov 22, 2022)
7-130733127-C-T		not specified	Uncertain significance (Apr 15, 2024)
7-130733154-G-C		not specified	Uncertain significance (Sep 07, 2022)
7-130733178-C-G		not specified	Uncertain significance (Dec 09, 2023)
7-130733465-G-A		not specified	Uncertain significance (Feb 27, 2023)
7-130733466-G-A		not specified	Uncertain significance (Mar 06, 2023)
7-130733483-C-T		not specified	Uncertain significance (Jan 26, 2022)
7-130733487-G-A		not specified	Uncertain significance (Nov 16, 2021)
7-130733487-G-T		not specified	Uncertain significance (Feb 02, 2022)
7-130733528-C-T		not specified	Uncertain significance (Apr 23, 2024)
7-130733536-G-C		not specified	Uncertain significance (Jun 18, 2021)
7-130733558-G-A		not specified	Uncertain significance (Jan 22, 2024)
7-130733597-T-G		not specified	Uncertain significance (Mar 16, 2022)
7-130733622-C-A		not specified	Uncertain significance (Jun 18, 2024)
7-130733624-G-A		not specified	Uncertain significance (Dec 15, 2022)
7-130733709-G-A		not specified	Uncertain significance (Mar 08, 2024)
7-130733731-C-G		not specified	Uncertain significance (Feb 15, 2023)
7-130733783-A-G		not specified	Uncertain significance (Mar 24, 2023)
7-130733789-T-C		not specified	Uncertain significance (Jul 14, 2021)
7-130733793-G-C		not specified	Uncertain significance (Nov 07, 2023)
7-130733817-T-G		not specified	Uncertain significance (Nov 12, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.419
• hipred: N
• hipred_score: 0.285

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0672

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Klf14
• Phenotype: homeostasis/metabolism phenotype; cellular phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; neoplasm

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;positive regulation of transcription by RNA polymerase II;positive regulation of sphingolipid mediated signaling pathway
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;chromatin binding;sequence-specific DNA binding;metal ion binding