GASK1B

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

Basic information

Region (hg38): 4:158124474-158173318

Previous symbols: [ "C4orf18", "FAM198B" ]

Links

ENSG00000164125 ∙ NCBI:51313 ∙ ∙ HGNC:25312 ∙ Uniprot:Q6UWH4 ∙ 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 GASK1B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GASK1B gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			56	3		59
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	56	3	0

Variants in GASK1B

This is a list of pathogenic ClinVar variants found in the GASK1B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
4-158127427-C-T		not specified	Uncertain significance (Jul 27, 2024)
4-158127435-C-T		not specified	Uncertain significance (Oct 05, 2023)
4-158127514-C-T		not specified	Uncertain significance (Jan 24, 2024)
4-158127588-A-G		not specified	Uncertain significance (Mar 31, 2023)
4-158127592-C-T		not specified	Uncertain significance (Dec 18, 2023)
4-158130843-C-A		not specified	Uncertain significance (Feb 21, 2024)
4-158130867-T-C		not specified	Uncertain significance (Mar 15, 2024)
4-158130873-G-T		not specified	Uncertain significance (Dec 13, 2022)
4-158130887-C-A		not specified	Uncertain significance (Sep 07, 2022)
4-158130903-A-T		not specified	Uncertain significance (Oct 25, 2024)
4-158130907-C-T		not specified	Uncertain significance (Jan 10, 2025)
4-158130909-G-A		not specified	Likely benign (Dec 22, 2023)
4-158130922-C-G		not specified	Uncertain significance (Jul 26, 2022)
4-158130958-C-T		not specified	Likely benign (Aug 01, 2024)
4-158130969-C-A		not specified	Uncertain significance (Dec 17, 2023)
4-158130970-G-A		not specified	Uncertain significance (Oct 12, 2021)
4-158155643-A-T		not specified	Uncertain significance (Oct 11, 2024)
4-158155654-T-C		not specified	Uncertain significance (Jan 10, 2023)
4-158155675-G-A		not specified	Uncertain significance (Apr 17, 2024)
4-158170272-C-G		not specified	Uncertain significance (Dec 06, 2022)
4-158170285-T-C		not specified	Uncertain significance (Apr 13, 2022)
4-158170294-A-C		not specified	Uncertain significance (May 14, 2024)
4-158170321-G-T		not specified	Uncertain significance (Feb 05, 2024)
4-158170335-G-A		not specified	Uncertain significance (May 18, 2023)
4-158170473-G-C		not specified	Uncertain significance (Nov 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GASK1B	protein_coding	protein_coding	ENST00000393807	5	48845

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.69e-9	0.644	125473	0	275	125748	0.00109

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.200	330	320	1.03	0.0000190	3433
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00287	0.00286
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.0000544	0.0000544
Finnish	0.000510	0.000508
European (Non-Finnish)	0.00123	0.00123
Middle Eastern	0.0000544	0.0000544
South Asian	0.00206	0.00206
Other	0.000491	0.000489

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0990

Intolerance Scores

• rvis_EVS: -0.13
• rvis_percentile_EVS: 43.98

Haploinsufficiency Scores

• pHI: 0.157
• hipred: N
• hipred_score: 0.251
• ghis: 0.479

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Fam198b