KRT38

keratin 38, the group of Keratins, type I

Basic information

Region (hg38): 17:41436154-41440983

Previous symbols: [ "KRTHA8" ]

Links

ENSG00000171360 ∙ NCBI:8687 ∙ OMIM:604542 ∙ HGNC:6456 ∙ Uniprot:O76015 ∙ 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 KRT38 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT38 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	4		36
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	4	0

Variants in KRT38

This is a list of pathogenic ClinVar variants found in the KRT38 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-41437455-C-G		not specified	Uncertain significance (Sep 17, 2021)
17-41437477-T-C		not specified	Uncertain significance (Nov 29, 2023)
17-41437482-C-T		not specified	Uncertain significance (Aug 11, 2022)
17-41437483-G-A		not specified	Uncertain significance (Jul 14, 2021)
17-41437504-C-G		not specified	Uncertain significance (Aug 12, 2021)
17-41437527-G-A		not specified	Uncertain significance (Sep 29, 2023)
17-41438120-C-T		not specified	Uncertain significance (Dec 20, 2023)
17-41438123-T-A		not specified	Uncertain significance (Feb 28, 2024)
17-41438148-G-A		not specified	Uncertain significance (Dec 13, 2022)
17-41438150-G-A		not specified	Uncertain significance (Mar 18, 2024)
17-41438189-C-T		not specified	Uncertain significance (Nov 08, 2022)
17-41438201-G-T		not specified	Uncertain significance (May 23, 2024)
17-41438232-T-G		not specified	Uncertain significance (Nov 06, 2023)
17-41438297-T-C		not specified	Likely benign (Dec 31, 2023)
17-41438549-A-G		not specified	Uncertain significance (Sep 07, 2022)
17-41438558-G-A		not specified	Uncertain significance (Jan 26, 2022)
17-41438594-T-G			Likely benign (Jun 01, 2022)
17-41438729-G-A		not specified	Uncertain significance (Nov 03, 2023)
17-41438764-A-G		not specified	Uncertain significance (Nov 21, 2022)
17-41438774-G-C		not specified	Uncertain significance (Jun 18, 2024)
17-41438797-G-C		not specified	Uncertain significance (May 18, 2023)
17-41439327-A-G		not specified	Uncertain significance (Sep 14, 2023)
17-41439342-G-A		not specified	Uncertain significance (Mar 01, 2024)
17-41439345-C-T		not specified	Uncertain significance (Jun 24, 2022)
17-41439351-C-T		not specified	Uncertain significance (Jun 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRT38	protein_coding	protein_coding	ENST00000246646	7	4476

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.94e-9	0.346	125567	0	181	125748	0.000720

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.654	299	269	1.11	0.0000163	2955
Missense in Polyphen		92	82.455	1.1158		1082
Synonymous	-0.928	130	117	1.11	0.00000732	911
Loss of Function	0.810	15	18.8	0.798	8.87e-7	211

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00719	0.00722
Ashkenazi Jewish	0.00	0.00
East Asian	0.000761	0.000761
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000264	0.000264
Middle Eastern	0.000761	0.000761
South Asian	0.000135	0.000131
Other	0.000654	0.000652

dbNSFP

Source: dbNSFP

• Pathway: Estrogen signaling pathway - Homo sapiens (human);Vitamin D Receptor Pathway;Keratinization;Developmental Biology (Consensus)

Recessive Scores

• pRec: 0.112

Intolerance Scores

• loftool: 0.192
• rvis_EVS: -0.33
• rvis_percentile_EVS: 30.82

Haploinsufficiency Scores

• pHI: 0.0839
• hipred: N
• hipred_score: 0.146
• ghis: 0.408

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.193

Gene Damage Prediction

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

Gene ontology

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