ATE1

arginyltransferase 1

Basic information

Region (hg38): 10:121709393-121928801

Links

ENSG00000107669NCBI:11101OMIM:607103HGNC:782Uniprot:O95260AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • congenital heart disease (Disputed Evidence), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ATE1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ATE1 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
3
clinvar
4
clinvar
7
missense
28
clinvar
28
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
1
1
non coding
1
clinvar
1
Total 0 0 28 3 5

Variants in ATE1

This is a list of pathogenic ClinVar variants found in the ATE1 region.

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

Position Type Phenotype Significance ClinVar
10-121743672-T-C ATE1-related disorder Benign (Oct 28, 2019)3059476
10-121743706-C-T not specified Uncertain significance (May 27, 2022)2292863
10-121743745-C-A not specified Uncertain significance (Jan 30, 2024)3130775
10-121743784-A-G not specified Uncertain significance (Jun 22, 2021)2234357
10-121743840-G-A not specified Uncertain significance (Sep 16, 2021)2388949
10-121790175-C-T not specified Uncertain significance (Dec 19, 2023)3130773
10-121790176-T-G ATE1-related disorder Benign (Oct 17, 2019)3060412
10-121790183-T-C not specified Uncertain significance (May 09, 2022)2287956
10-121790195-C-A not specified Uncertain significance (Oct 05, 2022)2379832
10-121790234-A-G not specified Uncertain significance (Mar 19, 2024)3320295
10-121836739-T-C ATE1-related disorder Benign (Oct 17, 2019)3060294
10-121841075-A-G ATE1-related disorder Benign (Oct 28, 2019)3060051
10-121841098-C-T not specified Uncertain significance (Jul 05, 2023)2596800
10-121841103-A-C not specified Uncertain significance (Nov 10, 2022)2325621
10-121841121-T-C not specified Uncertain significance (Sep 20, 2023)3130772
10-121841155-A-C not specified Uncertain significance (Mar 25, 2024)3320275
10-121841168-G-A ATE1-related disorder Likely benign (Mar 12, 2019)3058116
10-121841216-G-C not specified Uncertain significance (Jul 19, 2023)2612524
10-121841263-C-T not specified Uncertain significance (Nov 10, 2022)2334206
10-121898862-G-A ATE1-related disorder Likely benign (May 06, 2019)3037699
10-121899882-G-A not specified Uncertain significance (Jun 22, 2023)2597059
10-121899918-C-T not specified Uncertain significance (Jun 04, 2024)3320286
10-121899936-G-A not specified Uncertain significance (Aug 28, 2023)2621793
10-121899963-G-A not specified Uncertain significance (Nov 15, 2021)2363671
10-121902393-C-G not specified Uncertain significance (May 20, 2024)3320327

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ATE1protein_codingprotein_codingENST00000369043 12188378
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.04060.9591257280201257480.0000795
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6342442740.8920.00001383392
Missense in Polyphen4074.7650.53501910
Synonymous-0.98911299.51.130.00000553911
Loss of Function3.85932.80.2750.00000187386

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00005790.0000579
Ashkenazi Jewish0.00009920.0000992
East Asian0.000.00
Finnish0.00009240.0000924
European (Non-Finnish)0.00007960.0000791
Middle Eastern0.000.00
South Asian0.0001800.000163
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Involved in the post-translational conjugation of arginine to the N-terminal aspartate or glutamate of a protein. This arginylation is required for degradation of the protein via the ubiquitin pathway. Does not arginylate cysteine residues (By similarity). {ECO:0000250}.;

Recessive Scores

pRec
0.117

Intolerance Scores

loftool
rvis_EVS
-0.49
rvis_percentile_EVS
22.51

Haploinsufficiency Scores

pHI
0.364
hipred
N
hipred_score
0.414
ghis
0.651

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.823

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ate1
Phenotype
craniofacial phenotype; muscle phenotype; cellular phenotype; homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); endocrine/exocrine gland phenotype; pigmentation phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); 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); reproductive system phenotype; growth/size/body region phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); 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); digestive/alimentary phenotype; renal/urinary system phenotype; skeleton phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype;

Gene ontology

Biological process
proteasomal protein catabolic process;protein arginylation
Cellular component
nucleus;cytoplasm
Molecular function
arginyltransferase activity;protein binding