TRIM59-IFT80

ncRNA

TRIM59-IFT80 readthrough (NMD candidate)

Gene summary

This locus represents naturally occurring readthrough transcription between the neighboring TRIM59 (tripartite motif containing 59) and IFT80 (intraflagellar transport 80) genes on chromosome 3. The readthrough transcript is unlikely to produce a protein product. [provided by RefSeq, Jun 2017]

MANE transcript

N/A

Inheritance

—

ClinVar variants

P:10U:24B:28

Top phenotype

Jeune thoracic dystrophy

Max pathogenic AF

—

Genomic locus

chr3:160,227,454-160,449,829

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~222.4 kb
Loading mutation effect viewer...

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 TRIM59-IFT80 variants in ClinVar

9 Conditions Cataloged
Jeune thoracic dystrophyTotal: 473
Asphyxiating thoracic dystrophy 2Total: 105
Inborn genetic diseasesTotal: 87
not providedTotal: 60
Connective tissue disorderTotal: 15
not specifiedTotal: 11
Type IV short rib polydactyly syndromeTotal: 2
Short-rib thoracic dysplasia 6 with or without polydactylyTotal: 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)
2
clinvar
8
clinvar
24
clinvar
23
clinvar
5
clinvar
62
Total282423562

Highest pathogenic variant AF is 0.0000263227

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 1 of 1 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
ENST00000483754.1EnsemblENSP00000456272.116Standard
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.