KLF8

KLF transcription factor 8, the group of Kruppel like factors|Zinc fingers C2H2-type

Basic information

Region (hg38): X:56232356-56291531

Links

ENSG00000102349 ∙ NCBI:11279 ∙ OMIM:300286 ∙ HGNC:6351 ∙ Uniprot:O95600 ∙ 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 KLF8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KLF8 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				6		6
missense			13	1	2	16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding				1		1
Total	0	0	13	8	2

Variants in KLF8

This is a list of pathogenic ClinVar variants found in the KLF8 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-56233327-C-T			Likely benign (Apr 01, 2022)
X-56265195-C-T			Likely benign (Oct 01, 2024)
X-56265234-A-G		not specified	Uncertain significance (Mar 25, 2024)
X-56265264-C-A		not specified	Uncertain significance (May 18, 2023)
X-56265280-C-T		not specified	Uncertain significance (Sep 20, 2023)
X-56265323-G-T			Benign (Dec 31, 2019)
X-56265381-A-G		not specified	Uncertain significance (Oct 19, 2024)
X-56265384-G-A		not specified	Uncertain significance (Sep 06, 2022)
X-56265385-C-A		not specified	Uncertain significance (Sep 06, 2022)
X-56265391-T-C		not specified	Uncertain significance (Jan 26, 2023)
X-56265414-G-T		not specified	Uncertain significance (Jul 30, 2024)
X-56265420-A-G		not specified	Benign (Dec 31, 2019)
X-56265423-C-T		not specified	Uncertain significance (Sep 25, 2024)
X-56265426-C-A		not specified	Uncertain significance (Jun 13, 2022)
X-56265469-C-T		not specified	Uncertain significance (Dec 10, 2024)
X-56265483-A-C		not specified	Uncertain significance (Feb 15, 2023)
X-56265509-T-G			Likely benign (Dec 01, 2022)
X-56265510-G-A		not specified	Uncertain significance (Aug 05, 2024)
X-56265519-C-T			Uncertain significance (Aug 01, 2022)
X-56265530-C-T			Likely benign (Jun 08, 2018)
X-56265560-G-A		not specified	Likely benign (Dec 09, 2016)
X-56265658-T-C		not specified	Uncertain significance (Sep 11, 2024)
X-56265660-G-A			Likely benign (Feb 01, 2023)
X-56265729-A-C		not specified	Uncertain significance (Dec 07, 2021)
X-56265747-A-G			not provided (-)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KLF8	protein_coding	protein_coding	ENST00000468660	6	55469

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00225	0.776	125707	2	5	125714	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.381	122	134	0.907	0.0000102	2341
Missense in Polyphen		21	28.239	0.74366		537
Synonymous	-0.229	47	45.0	1.04	0.00000302	727
Loss of Function	0.975	5	7.97	0.627	5.02e-7	169

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000813	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000736	0.0000544
Finnish	0.0000636	0.0000462
European (Non-Finnish)	0.0000385	0.0000264
Middle Eastern	0.0000736	0.0000544
South Asian	0.00	0.00
Other	0.000225	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional repressor and activator. Binds to CACCC- boxes promoter elements. Also binds the GT-box of cyclin D1 promoter and mediates cell cycle progression at G(1) phase as a downstream target of focal adhesion kinase (FAK). {ECO:0000269|PubMed:10756197, ECO:0000269|PubMed:12820964, ECO:0000269|PubMed:16617055}.
• Pathway: Signaling events mediated by focal adhesion kinase (Consensus)

Recessive Scores

• pRec: 0.0677

Intolerance Scores

• loftool: 0.398
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.56

Haploinsufficiency Scores

• pHI: 0.123
• hipred: Y
• hipred_score: 0.600
• ghis: 0.455

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Klf8
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); embryo phenotype; growth/size/body region phenotype

Zebrafish Information Network

• Gene name: klf8
• Affected structure: cerebellar granule cell
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;regulation of transcription by RNA polymerase II
• Cellular component: nucleus;nucleoplasm;cytosol;aggresome
• Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;metal ion binding