GET1

guided entry of tail-anchored proteins factor 1, the group of Guided entry of tail-anchored proteins complex subunits

Basic information

Region (hg38): 21:39377697-39428528

Previous symbols: [ "WRB" ]

Links

ENSG00000182093 ∙ NCBI:7485 ∙ OMIM:602915 ∙ HGNC:12790 ∙ Uniprot:O00258 ∙ 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 GET1 gene.

• Inborn genetic diseases (14 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GET1 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			4			4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			10	3		13
Total	0	0	14	3	0

Variants in GET1

This is a list of pathogenic ClinVar variants found in the GET1 region.

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

Position	Type	Phenotype	Significance	ClinVar
21-39380389-G-C		not specified	Uncertain significance (Feb 27, 2024)
21-39380395-C-T		not specified	Uncertain significance (Sep 27, 2021)
21-39380449-A-G		not specified	Uncertain significance (Feb 17, 2024)
21-39390723-C-T		not specified	Uncertain significance (Dec 20, 2023)
21-39390731-G-C		not specified	Uncertain significance (Dec 14, 2023)
21-39390761-A-G		not specified	Uncertain significance (Feb 21, 2024)
21-39390766-G-T		not specified	Uncertain significance (Feb 28, 2024)
21-39390797-G-A		not specified	Uncertain significance (Aug 12, 2022)
21-39390852-T-G		not specified	Uncertain significance (Aug 12, 2022)
21-39390861-A-G		not specified	Uncertain significance (Mar 29, 2023)
21-39391777-C-T		not specified	Uncertain significance (Dec 21, 2022)
21-39391799-T-G		not specified	Uncertain significance (Aug 02, 2023)
21-39393205-G-A		not specified	Uncertain significance (Jul 09, 2021)
21-39393220-G-A		not specified	Uncertain significance (Aug 21, 2023)
21-39393250-C-T		not specified	Uncertain significance (Sep 14, 2022)
21-39393251-G-A		not specified	Uncertain significance (Aug 01, 2023)
21-39405910-G-A		not specified	Uncertain significance (Dec 17, 2023)
21-39405959-C-T		not specified	Uncertain significance (Sep 14, 2021)
21-39406013-T-C		not specified	Uncertain significance (Jan 20, 2023)
21-39406032-G-C			Likely benign (Apr 01, 2023)
21-39406099-A-G		not specified	Uncertain significance (Oct 06, 2022)
21-39406173-A-G			Likely benign (Apr 01, 2023)
21-39406265-C-T		not specified	Uncertain significance (Jun 07, 2023)
21-39406310-C-G		not specified	Uncertain significance (Dec 16, 2023)
21-39406354-G-A		not specified	Uncertain significance (Apr 07, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GET1	protein_coding	protein_coding	ENST00000333781	5	48285

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000868	0.806	125735	0	12	125747	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.618	85	103	0.828	0.00000558	1136
Missense in Polyphen		16	21.796	0.73408		264
Synonymous	-1.44	54	42.1	1.28	0.00000276	327
Loss of Function	1.11	6	9.73	0.616	4.22e-7	110

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000867	0.0000867
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000709	0.0000703
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for ASNA1/TRC40-mediated insertion of tail- anchored (TA) proteins into the ER membrane. {ECO:0000269|PubMed:21444755}.

Recessive Scores

• pRec: 0.149

Intolerance Scores

• loftool: 0.749
• rvis_EVS: -0.03
• rvis_percentile_EVS: 51.4

Haploinsufficiency Scores

• pHI: 0.175
• hipred: N
• hipred_score: 0.398
• ghis: 0.601

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.450

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Wrb
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); embryo phenotype; hematopoietic system phenotype; growth/size/body region phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Zebrafish Information Network

• Gene name: wrb
• Affected structure: neuromast hair cell
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: tail-anchored membrane protein insertion into ER membrane
• Cellular component: nucleus;endoplasmic reticulum membrane;integral component of membrane