TRAIP

Chr 3AR

TRAF interacting protein

Also known as: RNF206, SCKL9, TRIP

NCBI Gene: 10293 ENSG00000183763 UniProt: Q9BWF2 OMIM: 605958

This gene encodes a protein that contains an N-terminal RING finger motif and a putative coiled-coil domain. A similar murine protein interacts with TNFR-associated factor 1 (TRAF1), TNFR-associated factor 2 (TRAF2), and cylindromatosis. The interaction with TRAF2 inhibits TRAF2-mediated nuclear factor kappa-B, subunit 1 activation that is required for cell activation and protection against apoptosis. [provided by RefSeq, Jul 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 0.701 OMIM phenotype

Clinical Summary— TRAIP

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

15 unique Pathogenic / Likely Pathogenic· 87 VUS of 232 total submissions

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.70LOEUF

pLI 0.000

Z-score 2.79

OE 0.44 (0.29–0.70)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.32Z-score

OE missense 0.77 (0.69–0.87)

207 obs / 267.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.44 (0.29–0.70)

0≤0.351.4

Missense OE?0.77 (0.69–0.87)

0≤0.61.4

Synonymous OE?0.78

0≤1.21.6

LoF obs/exp: 13 / 29.3Missense obs/exp: 207 / 267.7Syn Z: 1.75

Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗

strongTRAIP-related primordial dwarfismLOFAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

0.74top 25%

GOF

0.3788th %ile

LOF

0.3260th %ile

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

232 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic12

Likely Pathogenic3

VUS87

Likely Benign97

Benign17

Conflicting1

Pathogenic

Likely Pathogenic

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	9	1	2	0	12
Likely Pathogenic	3	0	0	0	3
VUS	3	77	6	1	87
Likely Benign	0	10	42	45	97
Benign	0	0	15	2	17
Conflicting	—				1
Total	15	88	65	48	217

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

View in ClinVar →

11 pathogenic / likely-pathogenic (of 12) ClinVar copy-number / structural variants overlap TRAIP — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →