KRT31

keratin 31, the group of Keratins, type I

Basic information

Region (hg38): 17:41393721-41397608

Previous symbols: [ "KRTHA1" ]

Links

ENSG00000094796 ∙ NCBI:3881 ∙ OMIM:601077 ∙ HGNC:6448 ∙ Uniprot:Q15323 ∙ 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 KRT31 gene.

• not_specified (52 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT31 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002277.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	1	3
missense			48	3		51
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	48	5	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRT31	protein_coding	protein_coding	ENST00000251645	7	3869

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00755	0.990	121375	70	4303	125748	0.0175

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.186	271	263	1.03	0.0000181	2707
Missense in Polyphen		94	95.021	0.98926		1047
Synonymous	-1.34	134	116	1.16	0.00000765	843
Loss of Function	2.61	7	19.4	0.361	9.20e-7	209

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0127	0.0126
Ashkenazi Jewish	0.0305	0.0297
East Asian	0.0000544	0.0000544
Finnish	0.00739	0.00742
European (Non-Finnish)	0.0285	0.0284
Middle Eastern	0.0000544	0.0000544
South Asian	0.00937	0.00929
Other	0.0174	0.0171

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.209

Intolerance Scores

• loftool: 0.142
• rvis_EVS: 0.16
• rvis_percentile_EVS: 64.82

Haploinsufficiency Scores

• pHI: 0.202
• hipred: N
• hipred_score: 0.360
• ghis: 0.420

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.794

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Krt31
• 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)

Gene ontology

• Biological process: cytoskeleton organization;epidermis development;keratinization;cornification
• Cellular component: extracellular space;cytosol;intermediate filament;extracellular exosome
• Molecular function: structural constituent of cytoskeleton;protein binding