TRARG1
Basic information
Region (hg38): 17:1279662-1300978
Previous symbols: [ "TUSC5" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (29 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRARG1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000172367.3. 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 | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 25 | 29 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 25 | 4 | 0 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
TRARG1 | protein_coding | protein_coding | ENST00000333813 | 3 | 21325 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.000524 | 0.470 | 124782 | 0 | 11 | 124793 | 0.0000441 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.437 | 129 | 116 | 1.11 | 0.00000736 | 1125 |
Missense in Polyphen | 40 | 39.792 | 1.0052 | 401 | ||
Synonymous | -1.13 | 66 | 55.3 | 1.19 | 0.00000400 | 392 |
Loss of Function | 0.166 | 5 | 5.42 | 0.923 | 2.31e-7 | 60 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000152 | 0.000152 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000112 | 0.000111 |
Finnish | 0.0000482 | 0.0000464 |
European (Non-Finnish) | 0.0000178 | 0.0000177 |
Middle Eastern | 0.000112 | 0.000111 |
South Asian | 0.0000658 | 0.0000654 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Regulates insulin-mediated adipose tissue glucose uptake and transport by modulation of SLC2A4 recycling. Not required for SLC2A4 membrane fusion upon an initial stimulus, but rather is necessary for proper protein recycling during prolonged insulin stimulation. {ECO:0000250|UniProtKB:Q8C838}.;
Intolerance Scores
- loftool
- rvis_EVS
- 1.26
- rvis_percentile_EVS
- 93.53
Haploinsufficiency Scores
- pHI
- hipred
- N
- hipred_score
- 0.180
- ghis
- 0.396
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- gene_indispensability_score
Mouse Genome Informatics
- Gene name
- Trarg1
- Phenotype
- growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); homeostasis/metabolism phenotype;
Zebrafish Information Network
- Gene name
- trarg1a
- Affected structure
- Rohon-Beard neuron
- Phenotype tag
- abnormal
- Phenotype quality
- loose
Gene ontology
- Biological process
- cellular response to insulin stimulus;glucose import in response to insulin stimulus;protein localization to plasma membrane;vesicle fusion to plasma membrane;endosome to plasma membrane protein transport
- Cellular component
- plasma membrane;endomembrane system;membrane;integral component of membrane;cytoplasmic vesicle membrane;perinuclear region of cytoplasm
- Molecular function