ATG10

autophagy related 10, the group of Autophagy related

Basic information

Region (hg38): 5:81972023-82276857

Previous symbols: [ "APG10L" ]

Links

ENSG00000152348NCBI:83734OMIM:610800HGNC:20315Uniprot:Q9H0Y0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ATG10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ATG10 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
11
clinvar
11
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 11 0 0

Variants in ATG10

This is a list of pathogenic ClinVar variants found in the ATG10 region.

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

Position Type Phenotype Significance ClinVar
5-81987611-G-A not specified Likely benign (Jun 04, 2024)3320688
5-82058508-G-A not specified Uncertain significance (Mar 11, 2024)3130852
5-82058598-T-C not specified Uncertain significance (Jan 11, 2023)2475499
5-82164424-A-C not specified Uncertain significance (Sep 14, 2023)2602847
5-82164426-T-C not specified Uncertain significance (Mar 14, 2023)2461724
5-82164459-G-A not specified Uncertain significance (Jun 24, 2022)2401980
5-82164504-G-A not specified Uncertain significance (Mar 03, 2022)2370811
5-82164510-G-A not specified Uncertain significance (Dec 03, 2021)2386122
5-82178490-A-G not specified Uncertain significance (May 04, 2022)2287357
5-82178571-A-G not specified Uncertain significance (Mar 08, 2024)3130853
5-82253318-G-A not specified Uncertain significance (Sep 14, 2022)2312239
5-82253322-A-C not specified Uncertain significance (Apr 30, 2024)3320689
5-82253420-C-G not specified Uncertain significance (Sep 21, 2023)3130854
5-82276112-T-C Likely benign (Aug 24, 2018)762395
5-82276183-A-T Brachycephaly, trichomegaly, and developmental delay Pathogenic (Aug 11, 2017)417764
5-82276186-G-A Brachycephaly, trichomegaly, and developmental delay Uncertain significance (Aug 14, 2023)2578439
5-82276365-G-C Brachycephaly, trichomegaly, and developmental delay Benign (Nov 07, 2021)1327972
5-82276419-G-A Likely benign (Nov 15, 2018)771151
5-82276483-C-T Brachycephaly, trichomegaly, and developmental delay Pathogenic (Aug 11, 2017)417763

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ATG10protein_codingprotein_codingENST00000282185 6304833
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
2.18e-80.2671257180241257420.0000954
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.4811041190.8760.000005801448
Missense in Polyphen2732.3730.83402410
Synonymous-0.7465043.71.140.00000236403
Loss of Function0.5291315.20.8548.28e-7167

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002650.000265
Ashkenazi Jewish0.000.00
East Asian0.00005510.0000544
Finnish0.000.00
European (Non-Finnish)0.00008820.0000879
Middle Eastern0.00005510.0000544
South Asian0.00009810.0000980
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: E2-like enzyme involved in autophagy. Acts as an E2-like enzyme that catalyzes the conjugation of ATG12 to ATG5. ATG12 conjugation to ATG5 is required for autophagy. Likely serves as an ATG5-recognition molecule. Not involved in ATG12 conjugation to ATG3 (By similarity). Plays a role in adenovirus-mediated cell lysis. {ECO:0000250, ECO:0000269|PubMed:21367888}.;
Pathway
Autophagy - animal - Homo sapiens (human);Autophagy - other - Homo sapiens (human);Nanoparticle triggered autophagic cell death;Senescence and Autophagy in Cancer;Macroautophagy;Cellular responses to external stimuli (Consensus)

Recessive Scores

pRec
0.0878

Intolerance Scores

loftool
0.736
rvis_EVS
1.08
rvis_percentile_EVS
91.8

Haploinsufficiency Scores

pHI
0.0659
hipred
N
hipred_score
0.409
ghis
0.424

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.649

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Atg10
Phenotype

Gene ontology

Biological process
protein lipidation;autophagy;ER overload response;protein transport;macroautophagy;positive regulation of protein modification process;protein modification by small protein conjugation
Cellular component
cytosol
Molecular function
Atg12 transferase activity