GASK1B

protein-coding

golgi associated kinase 1B, the group of Golgi associated kinase family

Gene summary

Located in Golgi apparatus. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C4orf18
FAM198B

MANE transcript

NM_001128424.2

Inheritance

—

ClinVar variants

U:91B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.71

Max pathogenic AF

—

Genomic locus

chr4:158,124,474-158,173,318

External References & Databases

Ensembl (ENSG00000164125)

Transcript & Mutation Effects

hg38 • Region Span ~48.8 kb

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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 GASK1B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 101

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001128424.2. 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.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			89 clinvar	7 clinvar		96
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	91	7	0	98

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 36 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001128424.2	RefSeq	NP_001121896.1	4	MANE Select
ENST00000585682.6	Ensembl	ENSP00000465976.1	4	MANE Select
NM_001031700.3	RefSeq	NP_001026870.2	5	Standard
NM_016613.7	RefSeq	NP_057697.2	4	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000393807
Coding exons: 5
Length: 48845
Individuals with no LoFs: 125473
Homozygous LoFs: 0
Heterozygous LoFs: 275
Defined: 125748
p: 0.00109

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.200	330	320	1.03	0.0000190	3433
Missense (PolyPhen)		63	55.554	1.134		632
Synonymous	1.60	104	127	0.819	0.00000764	1092
Loss of Function	1.27	16	22.5	0.711	0.00000148	224

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0023	0.0023	notable
Latino/Admixed American	0.00052	0.00052	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.000054	0.000054	rare
Finnish	0.00051	0.00051	rare
European (Non-Finnish)	0.0012	0.0012	notable
South Asian	0.0021	0.0021	notable
Other	0.00049	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0990

Intolerance Scores

RVIS EVS: -0.13
RVIS percentile EVS: 43.98

Essentials

Essential (gene trap): N