GASK1A

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

Basic information

Region (hg38): 3:42979087-43067898

Previous symbols: [ "C3orf41", "FAM198A" ]

Links

ENSG00000144649 ∙ NCBI:729085 ∙ ∙ HGNC:24485 ∙ Uniprot:Q9UFP1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GASK1A gene.

• not_specified (84 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GASK1A gene is commonly pathogenic or not. These statistics are base on transcript: NM_001129908.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			2			2
missense			78	7	1	86
nonsense						0
start loss			1			1
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	81	7	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GASK1A	protein_coding	protein_coding	ENST00000430121	5	80945

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.75e-16	0.00379	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.00	234	337	0.693	0.0000197	3690
Missense in Polyphen		83	109.85	0.75558		1254
Synonymous	1.43	122	144	0.849	0.00000859	1238
Loss of Function	-0.494	22	19.6	1.12	0.00000101	211

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 1.64
• rvis_percentile_EVS: 96.11

Haploinsufficiency Scores

• pHI: 0.0624

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Fam198a