KRT10-AS1

ncRNA

KRT10 antisense RNA 1, the group of Antisense RNAs

Gene summary

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:
  • TMEM99

MANE transcript

N/A

Inheritance

—

ClinVar variants

—

Top phenotype

Bullous ichthyosiform erythroderma

gnomAD constraint

pLI —, LoF o/e —

Max pathogenic AF

—

Genomic locus

chr17:40,819,071-40,836,273

External References & Databases

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to KRT10-AS1 variants in ClinVar

11 Conditions Cataloged
not providedTotal: 70
Bullous ichthyosiform erythrodermaTotal: 16
Inborn genetic diseasesTotal: 9
Congenital reticular ichthyosiform erythrodermaTotal: 7
Annular epidermolytic ichthyosisTotal: 2
KRT10-related conditionTotal: 2
Bullous ichthyosiform erythroderma;Annular epidermolytic ichthyosis;Congenital reticular ichthyosiform erythrodermaTotal: 1
Epidermolytic acanthomaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
0
missense
0
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total000000
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
No transcripts match your selected source or search query.

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

  • integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000301665
Coding exons
1
Length
17165
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense-0.6171571371.150.000006841646
Missense (PolyPhen)1613.6781.1698132
Synonymous-0.8076355.41.140.00000308549
Loss of Function

Population LoF Frequency

PopulationCAFp-valueStatus
African00.0absent
Latino/Admixed American00.0absent
Ashkenazi Jewish00.0absent
East Asian00.0absent
Finnish00.0absent
European (Non-Finnish)00.0absent
South Asian00.0absent
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool
0.810
RVIS EVS
0.46
RVIS percentile EVS
78.46

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
N
Indispensability score
0.197

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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