KRT37

keratin 37, the group of Keratins, type I

Basic information

Region (hg38): 17:41420547-41424585

Previous symbols: [ "KRTHA7" ]

Links

ENSG00000108417 ∙ NCBI:8688 ∙ OMIM:604541 ∙ HGNC:6455 ∙ Uniprot:O76014 ∙ 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 KRT37 gene.

• not_specified (77 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KRT37 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003770.5. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			74	3		77
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	74	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KRT37	protein_coding	protein_coding	ENST00000225550	7	3771

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.52e-10	0.176	92241	3605	29902	125748	0.144

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.358	291	274	1.06	0.0000167	2931
Missense in Polyphen		71	75.535	0.93997		1006
Synonymous	-0.989	137	123	1.11	0.00000820	895
Loss of Function	0.546	16	18.5	0.863	7.90e-7	215

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.142	0.141
Ashkenazi Jewish	0.155	0.149
East Asian	0.298	0.277
Finnish	0.0799	0.0770
European (Non-Finnish)	0.162	0.155
Middle Eastern	0.298	0.277
South Asian	0.199	0.189
Other	0.162	0.154

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.102
• rvis_EVS: 1.78
• rvis_percentile_EVS: 96.85

Haploinsufficiency Scores

• pHI: 0.115
• hipred: N
• hipred_score: 0.146
• ghis: 0.400

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.433

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Gene ontology

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