GSE1

Gse1 coiled-coil protein

Basic information

Region (hg38): 16:85169524-85676204

Previous symbols: [ "KIAA0182" ]

Links

ENSG00000131149 ∙ NCBI:23199 ∙ OMIM:616886 ∙ HGNC:28979 ∙ Uniprot:Q14687 ∙ 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 GSE1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GSE1 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				10	2	12
missense			170	6	2	178
nonsense						0
start loss						0
frameshift						0
inframe indel				1	2	3
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	170	17	6

Variants in GSE1

This is a list of pathogenic ClinVar variants found in the GSE1 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-85633918-G-C		not specified	Uncertain significance (Sep 26, 2022)
16-85633922-C-T		not specified	Uncertain significance (Jul 06, 2021)
16-85633952-C-T		not specified	Uncertain significance (Sep 16, 2021)
16-85633961-G-A		not specified	Uncertain significance (Jun 21, 2023)
16-85633962-C-T		not specified	Uncertain significance (Nov 30, 2022)
16-85633977-C-T		not specified	Uncertain significance (Jul 29, 2022)
16-85633985-A-G		not specified	Uncertain significance (Mar 19, 2024)
16-85633988-C-T		not specified	Uncertain significance (Jun 28, 2022)
16-85633994-A-C		not specified	Uncertain significance (Feb 21, 2024)
16-85633994-A-G		not specified	Uncertain significance (Oct 17, 2023)
16-85634010-A-G		not specified	Uncertain significance (Aug 13, 2021)
16-85634015-G-A		not specified	Uncertain significance (Nov 18, 2022)
16-85634043-C-G		not specified	Uncertain significance (Oct 05, 2021)
16-85634050-C-T		not specified	Likely benign (May 24, 2023)
16-85634058-C-T		not specified	Uncertain significance (Aug 02, 2022)
16-85634077-C-T			Likely benign (Mar 01, 2023)
16-85634094-C-T		not specified	Uncertain significance (Dec 13, 2023)
16-85648569-G-A		not specified	Uncertain significance (Apr 08, 2024)
16-85648611-C-T		not specified	Uncertain significance (Aug 05, 2023)
16-85648653-G-A		not specified	Uncertain significance (Aug 17, 2021)
16-85648711-C-G		not specified	Uncertain significance (Mar 20, 2024)
16-85648729-T-G		not specified	Uncertain significance (Jul 06, 2021)
16-85648746-C-T		not specified	Uncertain significance (Feb 10, 2022)
16-85654282-C-T		not specified	Uncertain significance (May 26, 2024)
16-85654300-G-A		not specified	Uncertain significance (Nov 08, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GSE1	protein_coding	protein_coding	ENST00000253458	16	64796

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	5.02e-7	125675	2	63	125740	0.000258

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-3.31	1081	815	1.33	0.0000584	7771
Missense in Polyphen		325	248.32	1.3088		2429
Synonymous	-8.42	562	359	1.56	0.0000267	2569
Loss of Function	6.23	2	49.2	0.0407	0.00000254	560

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00632	0.00310
Finnish	0.00	0.00
European (Non-Finnish)	0.0000863	0.0000527
Middle Eastern	0.00632	0.00310
South Asian	0.0000668	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.108

Intolerance Scores

• rvis_EVS: -2.81
• rvis_percentile_EVS: 0.65

Haploinsufficiency Scores

• pHI: 0.172
• ghis: 0.641

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Gse1
• Phenotype: hematopoietic system phenotype; skeleton phenotype; growth/size/body region phenotype; homeostasis/metabolism phenotype

Gene ontology

• Molecular function: protein binding