KRT28

keratin 28, the group of Keratins, type I

Basic information

Region (hg38): 17:40792195-40799959

Previous symbols: [ "KRT25D" ]

Links

ENSG00000173908 ∙ NCBI:162605 ∙ OMIM:616677 ∙ HGNC:30842 ∙ Uniprot:Q7Z3Y7 ∙ 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 KRT28 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT28 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	5		37
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	5	0

Variants in KRT28

This is a list of pathogenic ClinVar variants found in the KRT28 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-40792456-C-T		not specified	Uncertain significance (Aug 16, 2022)
17-40792479-T-C		not specified	Uncertain significance (Oct 25, 2022)
17-40792486-T-C		not specified	Uncertain significance (Mar 18, 2024)
17-40792518-C-T		not specified	Uncertain significance (Jun 24, 2022)
17-40793194-T-C		not specified	Uncertain significance (Jul 27, 2021)
17-40793850-C-T		not specified	Likely benign (Oct 25, 2022)
17-40793859-G-A		not specified	Uncertain significance (Feb 28, 2024)
17-40793998-T-C		not specified	Likely benign (Feb 17, 2023)
17-40794000-C-T		not specified	Uncertain significance (Dec 21, 2023)
17-40794021-G-A		not specified	Uncertain significance (Mar 11, 2024)
17-40794036-A-G		not specified	Uncertain significance (Aug 08, 2023)
17-40796917-G-T		not specified	Uncertain significance (Jan 30, 2024)
17-40796956-A-G		not specified	Uncertain significance (Jan 24, 2023)
17-40796962-C-A		not specified	Uncertain significance (Feb 13, 2024)
17-40796970-C-G		not specified	Uncertain significance (Dec 26, 2023)
17-40796983-C-G		not specified	Likely benign (Nov 08, 2022)
17-40796984-T-G		not specified	Uncertain significance (Dec 13, 2021)
17-40796986-C-T		not specified	Uncertain significance (Feb 12, 2024)
17-40797020-T-C		not specified	Uncertain significance (Aug 17, 2022)
17-40797137-C-T		not specified	Uncertain significance (Dec 02, 2022)
17-40797169-G-T		not specified	Likely benign (Aug 31, 2022)
17-40797238-A-G		not specified	Uncertain significance (Apr 09, 2024)
17-40797273-C-G		not specified	Uncertain significance (Jul 20, 2021)
17-40798260-G-A		not specified	Uncertain significance (Aug 26, 2022)
17-40798267-C-T		not specified	Uncertain significance (Feb 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRT28	protein_coding	protein_coding	ENST00000306658	8	7757

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.42e-10	0.448	125666	0	82	125748	0.000326

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.112	264	269	0.981	0.0000161	2999
Missense in Polyphen		64	73.278	0.87339		927
Synonymous	0.794	106	117	0.907	0.00000805	921
Loss of Function	1.07	17	22.5	0.757	0.00000121	266

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000647	0.000647
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00	0.00
Finnish	0.000194	0.000185
European (Non-Finnish)	0.000494	0.000413
Middle Eastern	0.00	0.00
South Asian	0.000262	0.000261
Other	0.000489	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Essential for the proper assembly of types I and II keratin protein complexes and the formation of keratin intermediate filaments in the inner root sheath (irs). {ECO:0000250|UniProtKB:A6BLY7}.
• Pathway: Estrogen signaling pathway - Homo sapiens (human);Keratinization;Developmental Biology (Consensus)

Intolerance Scores

• loftool: 0.309
• rvis_EVS: 0.8
• rvis_percentile_EVS: 87.59

Haploinsufficiency Scores

• pHI: 0.237
• hipred: N
• hipred_score: 0.208

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.751

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Krt28

Gene ontology

• Biological process: biological_process;keratinization;cornification
• Cellular component: cytosol;intermediate filament;extracellular exosome
• Molecular function: molecular_function;structural molecule activity