GASK1B

Chr 4

golgi associated kinase 1B

Also known as: AD021, AD036, C4orf18, ENED, FAM198B

NCBI Gene: 51313ENSG00000164125UniProt: Q6UWH4

GASK1B encodes a protein located in the Golgi apparatus. The gene is not constrained against loss-of-function mutations (pLI near zero, LOEUF >1), and there are currently no well-established disease associations with GASK1B mutations in pediatric patients.

Summary from RefSeq
Research Assistant →
0
Active trials
1
Pubs (1 yr)
32
P/LP submissions
0%
P/LP missense
1.08
LOEUF
—
Mechanism
Clinical Summary— GASK1B
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
32 unique Pathogenic / Likely Pathogenic· 100 VUS of 146 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.08LOEUF
pLI 0.000
Z-score 1.27
OE 0.71 (0.48–1.08)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.20Z-score
OE missense 1.03 (0.94–1.13)
330 obs / 319.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.71 (0.48–1.08)
0≤0.351.4
Missense OE1.03 (0.94–1.13)
0≤0.61.4
Synonymous OE0.82
0≤1.21.6
LoF obs/exp: 16 / 22.5Missense obs/exp: 330 / 319.9Syn Z: 1.60

ClinVar Variant Classifications

146 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic29
Likely Pathogenic3
VUS100
Likely Benign8
29
Pathogenic
3
Likely Pathogenic
100
VUS
8
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
29
0
29
Likely Pathogenic
0
0
3
0
3
VUS
0
93
7
0
100
Likely Benign
0
7
1
0
8
Benign
0
0
0
0
0
Total0100400140

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

View in ClinVar →

Protein Context — Lollipop Plot

GASK1B · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients