JKAMP

Chr 14AR

JNK1/MAPK8 associated membrane protein

Also known as: C14orf100, C24orf100, CDA06, HSPC213, HSPC327, JAMP, NEDSIL

NCBI Gene: 51528 ENSG00000050130 UniProt: Q9P055 OMIM: 611176

Enables ubiquitin protein ligase binding activity. Involved in ERAD pathway. Predicted to be located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

Enables ubiquitin protein ligase binding activity. Involved in ERAD pathway. Predicted to be located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with seizures and impaired intellectual and language developmentMIM #621533

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Neurodevelopmental disorder with seizures and impaired intellectual and language development; no ClinGen or GenCC tier

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

—

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.62

LOEUF

LOF

Mechanism· G2P

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.62LOEUF

pLI 0.077

Z-score 2.69

OE 0.30 (0.15–0.62)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.55Z-score

OE missense 0.66 (0.56–0.77)

108 obs / 163.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.30 (0.15–0.62)

0≤0.351.4

Missense OE?0.66 (0.56–0.77)

0≤0.61.4

Synonymous OE?0.91

0≤1.21.6

LoF obs/exp: 5 / 16.9Missense obs/exp: 108 / 163.6Syn Z: 0.54

Background carrier burden — how many people carry a rare variant somewhere in JKAMP?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 400

311 rare PASS variants

Rare truncating (LoF)

1 in 5,700

50 rare PASS variants

Rare synonymous (reference)

1 in 250

153 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for JKAMP. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 410	1 in 5,700
South Asian	~43k	1 in 290	1 in 8,200
Remaining (unassigned)	~30k	1 in 280	≈ 1 in 15,000
European (Finnish)	~27k	1 in 990	≈ 1 in 13,000
Admixed American	~22k	1 in 240	1 in 4,400
African / African American	~21k	1 in 190	1 in 3,400
East Asian	~20k	1 in 240	≈ 1 in 20,000
Ashkenazi Jewish	~13k	1 in 390	none seen
Middle Eastern	~2,884	1 in 290	≈ 1 in 2,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 4 of 7 coding exons well covered in gnomAD exomes; exons 2, 5, 6 marginal. Genomes: all 7.? see exons ↓