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TNFAIP8L2-SCNM1

Chr 1

TNFAIP8L2-SCNM1 readthrough

This locus represents naturally occurring read-through transcription between the neighboring TNFAIP8L2 (tumor necrosis factor, alpha-induced protein 8-like 2) and SCNM1 (sodium channel modifier 1) genes on chromosome 1. The protein-coding read-through transcript variant encodes a protein that shares sequence identity with the downstream gene product but its N-terminal region is shorter due to alternate exon use relative to the downstream gene. [provided by RefSeq, Dec 2016]

ResearchGenerating clinical summary…
Clinical SummaryTNFAIP8L2-SCNM1
📋
ClinVar Variants
2 unique Pathogenic / Likely Pathogenic· 3 VUS of 8 total submissions
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/TNFAIP8L2-SCNM1?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

8 submitted variants in ClinVar

Classification Summary

Pathogenic2
VUS3
Benign3
2
Pathogenic
3
VUS
3
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
1
0
0
2
Likely Pathogenic
0
0
0
0
0
VUS
0
3
0
0
3
Likely Benign
0
0
0
0
0
Benign
0
1
0
2
3
Total15028

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

2 pathogenic / likely-pathogenic (of 2) ClinVar copy-number / structural variants overlap TNFAIP8L2-SCNM1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

TNFAIP8L2-SCNM1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →