KLF5
KLF transcription factor 5, the group of Kruppel like factors|Zinc fingers C2H2-type
Basic information
Region (hg38): 13:73054976-73077541
Previous symbols: [ "BTEB2" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (48 variants)
- not_provided (1 variants)
- Dilated_cardiomyopathy_1FF (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the KLF5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001730.5. 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 | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 48 | 49 | ||||
| nonsense | 1 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 1 | 0 | 48 | 0 | 1 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| KLF5 | protein_coding | protein_coding | ENST00000377687 | 4 | 22563 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.818 | 0.182 | 125746 | 0 | 2 | 125748 | 0.00000795 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.58 | 151 | 216 | 0.698 | 0.0000119 | 2967 |
| Missense in Polyphen | 56 | 101.23 | 0.55317 | 1204 | ||
| Synonymous | 0.192 | 84 | 86.3 | 0.974 | 0.00000531 | 933 |
| Loss of Function | 3.03 | 2 | 14.4 | 0.139 | 7.67e-7 | 178 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00000879 | 0.00000879 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Transcription factor that binds to GC box promoter elements. Activates the transcription of these genes.;
- Pathway
- Transcriptional regulation of white adipocyte differentiation;White fat cell differentiation;Adipogenesis;Mesodermal Commitment Pathway;White fat cell differentiation;Transcriptional cascade regulating adipogenesis
(Consensus)
Recessive Scores
- pRec
- 0.223
Intolerance Scores
- loftool
- 0.101
- rvis_EVS
- -0.05
- rvis_percentile_EVS
- 50.01
Haploinsufficiency Scores
- pHI
- 0.768
- hipred
- Y
- hipred_score
- 0.794
- ghis
- 0.553
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- H
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.969
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Klf5
- Phenotype
- vision/eye phenotype; digestive/alimentary phenotype; immune system phenotype; respiratory system phenotype; embryo phenotype; reproductive system phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); normal 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); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); growth/size/body region phenotype; craniofacial phenotype; muscle phenotype; cellular phenotype; homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype;
Zebrafish Information Network
- Gene name
- klf5a
- Affected structure
- gut
- Phenotype tag
- abnormal
- Phenotype quality
- immature
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;angiogenesis;regulation of transcription by RNA polymerase II;transcription by RNA polymerase II;positive regulation of cell population proliferation;microvillus assembly;regulation of microvillus assembly;skeletal muscle cell differentiation;positive regulation of fat cell differentiation;positive regulation of transcription by RNA polymerase II;intestinal epithelial cell development;cellular response to organic cyclic compound;cell-cell signaling via exosome;cellular response to peptide;positive regulation of pri-miRNA transcription by RNA polymerase II;cellular response to leukemia inhibitory factor
- Cellular component
- nucleus;nucleoplasm;Golgi apparatus;intracellular membrane-bounded organelle
- Molecular function
- RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;protein binding;transcription factor binding;metal ion binding