ATG10
gene geneOn this page
Also known as DKFZP586I0418FLJ13954
Summary
ATG10 (autophagy related 10, HGNC:20315) is a protein-coding gene on chromosome 5q14.1-q14.2, encoding Ubiquitin-like-conjugating enzyme ATG10 (Q9H0Y0). E2-like enzyme involved in autophagy.
Autophagy is a process for the bulk degradation of cytosolic compartments by lysosomes. ATG10 is an E2-like enzyme involved in 2 ubiquitin-like modifications essential for autophagosome formation: ATG12 (MIM 609608)-ATG5 (MIM 604261) conjugation and modification of a soluble form of MAP-LC3 (MAP1LC3A; MIM 601242), a homolog of yeast Apg8, to a membrane-bound form (Nemoto et al., 2003 [PubMed 12890687]).
Source: NCBI Gene 83734 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 52 total
- MANE Select transcript:
NM_031482
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20315 |
| Approved symbol | ATG10 |
| Name | autophagy related 10 |
| Location | 5q14.1-q14.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZP586I0418, FLJ13954 |
| Ensembl gene | ENSG00000152348 |
| Ensembl biotype | protein_coding |
| OMIM | 610800 |
| Entrez | 83734 |
Gene structure
Transcript identifiers
Ensembl transcripts: 30 — 27 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000282185, ENST00000355178, ENST00000458350, ENST00000504770, ENST00000508814, ENST00000510085, ENST00000513443, ENST00000513634, ENST00000514253, ENST00000866604, ENST00000866605, ENST00000866606, ENST00000866607, ENST00000866608, ENST00000866609, ENST00000866610, ENST00000866611, ENST00000866612, ENST00000866613, ENST00000866614, ENST00000919272, ENST00000919273, ENST00000919274, ENST00000919275, ENST00000919276, ENST00000919277, ENST00000919278, ENST00000969578, ENST00000969579, ENST00000969580
RefSeq mRNA: 2 — MANE Select: NM_031482
NM_001131028, NM_031482
CCDS: CCDS4057
Canonical transcript exons
ENST00000282185 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001004797 | 82058495 | 82058602 |
| ENSE00001004800 | 82164399 | 82164537 |
| ENSE00001004801 | 82253314 | 82253429 |
| ENSE00001178524 | 81987559 | 81987678 |
| ENSE00001825593 | 82254068 | 82256133 |
| ENSE00003558422 | 82252562 | 82252659 |
| ENSE00003561231 | 82178490 | 82178587 |
| ENSE00003848202 | 81972023 | 81972306 |
Expression profiles
Bgee: expression breadth ubiquitous, 227 present calls, max score 85.31.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.8636 / max 110.0044, expressed in 1777 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 57353 | 7.1832 | 1738 |
| 203606 | 1.6805 | 1088 |
Top tissues by expression
264 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.31 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 84.26 | gold quality |
| islet of Langerhans | UBERON:0000006 | 82.50 | gold quality |
| monocyte | CL:0000576 | 81.48 | gold quality |
| mononuclear cell | CL:0000842 | 81.19 | gold quality |
| adrenal tissue | UBERON:0018303 | 81.13 | gold quality |
| leukocyte | CL:0000738 | 80.93 | gold quality |
| ganglionic eminence | UBERON:0004023 | 80.17 | gold quality |
| tibial artery | UBERON:0007610 | 80.04 | gold quality |
| popliteal artery | UBERON:0002250 | 80.02 | gold quality |
| gastrocnemius | UBERON:0001388 | 79.89 | gold quality |
| skin of abdomen | UBERON:0001416 | 79.89 | gold quality |
| muscle of leg | UBERON:0001383 | 79.63 | gold quality |
| aorta | UBERON:0000947 | 79.54 | gold quality |
| right coronary artery | UBERON:0001625 | 79.51 | gold quality |
| stromal cell of endometrium | CL:0002255 | 79.49 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 79.35 | gold quality |
| rectum | UBERON:0001052 | 79.33 | gold quality |
| skin of leg | UBERON:0001511 | 79.21 | gold quality |
| ascending aorta | UBERON:0001496 | 79.16 | gold quality |
| thoracic aorta | UBERON:0001515 | 79.12 | gold quality |
| ventricular zone | UBERON:0003053 | 78.91 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 78.89 | gold quality |
| left coronary artery | UBERON:0001626 | 78.72 | gold quality |
| calcaneal tendon | UBERON:0003701 | 78.59 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 78.47 | gold quality |
| pancreas | UBERON:0001264 | 78.43 | gold quality |
| body of pancreas | UBERON:0001150 | 78.00 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 77.96 | gold quality |
| zone of skin | UBERON:0000014 | 77.86 | gold quality |
Single-cell (SCXA)
Detected in 10 experiment(s), a significant marker in 10.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | yes | 44284.03 |
| E-MTAB-9543 | yes | 41587.97 |
| E-MTAB-7407 | yes | 41200.99 |
| E-HCAD-56 | yes | 764.66 |
| E-MTAB-10283 | yes | 644.94 |
| E-MTAB-8410 | yes | 588.39 |
| E-MTAB-8495 | yes | 540.30 |
| E-GEOD-149689 | yes | 506.84 |
| E-MTAB-10290 | yes | 219.62 |
| E-ANND-3 | yes | 7.83 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F1
miRNA regulators (miRDB)
86 targeting ATG10, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-329-3P | 99.91 | 66.56 | 1234 |
| HSA-MIR-362-3P | 99.91 | 66.38 | 1267 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
Literature-anchored findings (GeneRIF, showing 16)
- Increased expression of ATG10 in colorectal cancer is associated with lymphovascular invasion and lymph node metastasis indicating that ATG10 may be a potential prognostic maker in colorectal cancer. (PMID:23285162)
- results suggest that genetic variants in ATG10 may implicate with breast cancer susceptibility in Chinese population. Further large and functional studies are needed to confirm our findings (PMID:23850577)
- 3 novel miRNAs, MIR4458, MIR4667-5p, and MIR4668-5p, regulate autophagy-mediated elimination of B. pseudomallei by targeting ATG10 (PMID:26151773)
- Findings suggest that eQTL/meQTL variations of ATG10 could influence lung cancer survival through regulating ATG10 expression. (PMID:27225307)
- Expression of ATG10 negatively regulated by PTBP1 and is associated with metastasis of colorectal cancer cells. (PMID:27836735)
- ATG10 rs1864182 gene polymorphism was associated with the decreased risk of coal workers’ pneumoconiosis in a Chinese population. (PMID:28844669)
- ATG10, a canonical long isoform in autophagy process, can facilitate hepatitis C virus-subgenomic replicon amplification by promoting autophagosome formation and by combining with and detaining autophagosomes in cellular periphery, causing impaired autophagy flux. (PMID:28900156)
- findings provide important information for understanding the differential roles on HCV replication and autophagy flux between ATG10 and ATG10S, and how the structure-function relationship of ATG10 transformed by a single -SH group loss on Cys(44) and Cys(135) in ATG10 protein, which may be a new target against HCV replication. (PMID:30319633)
- Results found ATG10 rs10514231 was significantly associated with the occurrence of grade 3-4 oral mucositis and myelosuppression in nasopharyngeal carcinoma (NPC) patients treated with radiotherapy. (PMID:31692259)
- A new transcription factor ATG10S activates IFNL2 transcription by binding at an IRF1 site in HepG2 cells. (PMID:31996071)
- A study on the potential role of autophagy-related protein 10 as a biomarker for ulcerative colitis. (PMID:33904657)
- Analysis of rs1864182 and rs1864183 variants in ATG10 gene and antineutrophil cytoplasmic autoantibody-associated vasculitis in Chinese Guangxi population. (PMID:34961976)
- The prognostic value of autophagy related genes with potential protective function in Ewing sarcoma. (PMID:35902797)
- Long noncoding RNA SNHG1 alleviates high glucose-induced vascular smooth muscle cells calcification/senescence by post-transcriptionally regulating Bhlhe40 and autophagy via Atg10. (PMID:36194366)
- Association of ATG10 rs1864183, ATG16L1 rs2241880 and miR-126 with esophageal cancer. (PMID:38281293)
- METTL3 mediates m6A modification of lncRNA CRNDE to promote ATG10 expression and improve brain ischemia/reperfusion injury through YTHDC1. (PMID:39407279)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | atg10 | ENSDARG00000104846 |
| mus_musculus | Atg10 | ENSMUSG00000021619 |
| rattus_norvegicus | Atg10 | ENSRNOG00000016342 |
Protein
Protein identifiers
Ubiquitin-like-conjugating enzyme ATG10 — Q9H0Y0 (reviewed: Q9H0Y0)
Alternative names: Autophagy-related protein 10
All UniProt accessions (4): Q9H0Y0, D6RBD1, D6RC89, D6RDX3
UniProt curated annotations — full annotation on UniProt →
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. Plays a role in adenovirus-mediated cell lysis.
Subunit / interactions. Interacts with MAP1LC3A. By interacting with MAP1LC3A, it plays a role in the conjugation of ATG12 to ATG5. Also able to directly interact either with ATG5 or ATG7. Interacts with IRGM.
Subcellular location. Cytoplasm.
Similarity. Belongs to the ATG10 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H0Y0-1 | 1 | yes |
| Q9H0Y0-2 | 2 |
RefSeq proteins (2): NP_001124500, NP_113670* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007135 | Atg3/Atg10 | Family |
Pfam: PF03987
UniProt features (7 total): sequence variant 3, splice variant 2, chain 1, active site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H0Y0-F1 | 81.14 | 0.58 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (1): 166 (glycyl thioester intermediate)
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-1632852 | Macroautophagy |
| R-HSA-9612973 | Autophagy |
MSigDB gene sets: 109 (showing top):
GOBP_VACUOLE_ORGANIZATION, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MACROAUTOPHAGY, GOBP_ER_NUCLEUS_SIGNALING_PATHWAY, GOBP_ORGANELLE_ASSEMBLY, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, CUI_TCF21_TARGETS_2_DN, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, GOBP_AUTOPHAGOSOME_ORGANIZATION, GOMF_UBIQUITIN_LIKE_PROTEIN_CONJUGATING_ENZYME_ACTIVITY, GEORGES_TARGETS_OF_MIR192_AND_MIR215
GO Biological Process (6): autophagosome assembly (GO:0000045), mitophagy (GO:0000423), autophagy (GO:0006914), ER overload response (GO:0006983), protein transport (GO:0015031), protein modification by small protein conjugation (GO:0032446)
GO Molecular Function (5): Atg12 transferase activity (GO:0019777), Atg12 conjugating enzyme activity (GO:0061651), protein binding (GO:0005515), transferase activity (GO:0016740), ubiquitin-like protein transferase activity (GO:0019787)
GO Cellular Component (2): cytosol (GO:0005829), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Autophagy | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| Atg12 activating enzyme activity | 1 |
| protein-phosphatidylethanolamide deconjugating activity | 1 |
| Atg12 conjugating enzyme activity | 1 |
| Atg12 ligase activity | 1 |
| organelle assembly | 1 |
| Atg1/ULK1 kinase complex assembly | 1 |
| autophagosome organization | 1 |
| autophagy of mitochondrion | 1 |
| macroautophagy | 1 |
| catabolic process | 1 |
| transmembrane transport | 1 |
| process utilizing autophagic mechanism | 1 |
| ER-nucleus signaling pathway | 1 |
| response to endoplasmic reticulum stress | 1 |
| cellular response to biotic stimulus | 1 |
| transport | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| protein modification by small protein conjugation or removal | 1 |
| ubiquitin-like protein transferase activity | 1 |
| Atg12 transferase activity | 1 |
| ubiquitin-like protein conjugating enzyme activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| aminoacyltransferase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
850 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ATG10 | ATG12 | O94817 | 999 |
| ATG10 | ATG7 | O95352 | 999 |
| ATG10 | ATG5 | Q9H1Y0 | 997 |
| ATG10 | IRGM | A1A4Y4 | 987 |
| ATG10 | ATG13 | O75143 | 978 |
| ATG10 | ATG16L1 | Q676U5 | 950 |
| ATG10 | RB1CC1 | Q8TDY2 | 949 |
| ATG10 | ATG3 | Q9NT62 | 947 |
| ATG10 | MAP1LC3A | Q9H492 | 879 |
| ATG10 | ATG4B | Q9Y4P1 | 875 |
| ATG10 | ULK1 | O75385 | 865 |
| ATG10 | ATG4A | Q8WYN0 | 864 |
| ATG10 | ATG4C | Q96DT6 | 855 |
| ATG10 | GABARAPL2 | P60520 | 852 |
| ATG10 | F5GZY7 | F5GZY7 | 851 |
IntAct
56 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ATG10 | ATG12 | psi-mi:“MI:0914”(association) | 0.670 |
| ATG10 | ATG5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CASP6 | ATG10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GNB2 | ATG10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HIP1 | ATG10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LAMP2 | ATG10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PRKN | ATG10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RAN | ATG10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KIF1B | ATG10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF11 | ATG10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PRPF40A | ATG10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| COQ8A | ATG10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SNCA | ATG10 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ATXN1 | ATG10 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (223): ATG12 (Affinity Capture-MS), ATG7 (Affinity Capture-MS), ATG12 (Affinity Capture-MS), ATG7 (Affinity Capture-MS), ATG10 (Affinity Capture-MS), IFNL2 (Affinity Capture-Western), IRGM (Affinity Capture-Western), IRGM (Two-hybrid), ATG10 (Two-hybrid), TAX1BP1 (Phenotypic Enhancement), RB1CC1 (Phenotypic Enhancement), ATG101 (Phenotypic Enhancement), CAPZB (Phenotypic Enhancement), ACTB (Phenotypic Enhancement), GDI2 (Phenotypic Enhancement)
ESM2 similar proteins: A4IFQ0, A4QNE0, A7YY45, B0K012, O94888, O95453, P42694, P54198, P54277, P57060, P69341, Q05B58, Q08BT5, Q13572, Q13769, Q1RMZ1, Q3U2J5, Q3ZBE1, Q4R8V9, Q569B7, Q5F480, Q5R9U9, Q5RC51, Q5RCR8, Q5RDU9, Q5REY7, Q5ZIA0, Q5ZLS2, Q5ZMQ0, Q61666, Q68FX7, Q6DFV5, Q6GR37, Q6NRL4, Q6NW29, Q7SXV1, Q8BKT7, Q8K2D3, Q8W0Z9, Q96F86
Diamond homologs: A1CAN8, A1DF15, A3LX85, A5DN42, A5DVH6, A6S8P6, A6ZS81, A7F172, A7KAI2, A7KAL4, A7TK16, C8VDI2, F7VSU2, G2XNY3, I1RX50, M7UQV4, O43035, P0CM34, P0CM35, P40344, Q0U388, Q0VCL3, Q0WWQ1, Q2H427, Q2U7R4, Q4WUE5, Q51LD2, Q550A8, Q5ABQ7, Q5I0S6, Q6AZ50, Q6BSC4, Q6C4Q9, Q6CL19, Q6FQJ2, Q6GQE7, Q6PFS7, Q755K1, Q7SDY2, Q9CPX6
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ATG10 | up-regulates | ATG12 | binding |
| ATG10 | up-regulates | ATG12/5/16L1 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 22 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Macroautophagy | 7 | 42.5× | 2e-08 |
| Autophagy | 5 | 39.0× | 8e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| autophagosome maturation | 8 | 127.7× | 1e-13 |
| mitophagy | 8 | 115.6× | 2e-13 |
| autophagosome assembly | 8 | 81.7× | 3e-12 |
| macroautophagy | 5 | 54.7× | 2e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
52 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 33 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3243 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:81972089:G:GT | donor_gain | 1.0000 |
| 5:81987553:TTGCA:T | acceptor_loss | 1.0000 |
| 5:81987554:TGCAG:T | acceptor_loss | 1.0000 |
| 5:81987555:GCAGT:G | acceptor_loss | 1.0000 |
| 5:81987556:CAGTT:C | acceptor_loss | 1.0000 |
| 5:81987557:A:AG | acceptor_gain | 1.0000 |
| 5:81987557:AGT:A | acceptor_loss | 1.0000 |
| 5:81987558:G:GA | acceptor_gain | 1.0000 |
| 5:81987558:GTT:G | acceptor_gain | 1.0000 |
| 5:81987558:GTTA:G | acceptor_gain | 1.0000 |
| 5:81987558:GTTAT:G | acceptor_gain | 1.0000 |
| 5:81987674:CAAAG:C | donor_loss | 1.0000 |
| 5:81987675:AAAG:A | donor_loss | 1.0000 |
| 5:81987676:AAGGT:A | donor_loss | 1.0000 |
| 5:81987677:AGGT:A | donor_loss | 1.0000 |
| 5:81987679:G:T | donor_loss | 1.0000 |
| 5:81987680:T:A | donor_loss | 1.0000 |
| 5:82058479:T:A | acceptor_gain | 1.0000 |
| 5:82058480:G:A | acceptor_gain | 1.0000 |
| 5:82058482:T:TA | acceptor_gain | 1.0000 |
| 5:82121411:G:T | donor_gain | 1.0000 |
| 5:82164469:A:AG | donor_gain | 1.0000 |
| 5:82252656:A:AG | donor_gain | 1.0000 |
| 5:82252660:G:GG | donor_gain | 1.0000 |
| 5:82252707:GT:G | donor_gain | 1.0000 |
| 5:82276394:TCA:T | donor_loss | 1.0000 |
| 5:82276395:CA:C | donor_loss | 1.0000 |
| 5:82276396:A:AC | donor_gain | 1.0000 |
| 5:82276396:ACCT:A | donor_gain | 1.0000 |
| 5:82276397:C:CC | donor_gain | 1.0000 |
AlphaMissense
1451 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:82253336:T:A | W192R | 0.995 |
| 5:82253336:T:C | W192R | 0.995 |
| 5:81987658:T:A | W30R | 0.992 |
| 5:81987658:T:C | W30R | 0.992 |
| 5:82164481:T:A | V100D | 0.992 |
| 5:81987660:G:C | W30C | 0.989 |
| 5:81987660:G:T | W30C | 0.989 |
| 5:82252598:C:G | H164D | 0.989 |
| 5:82164508:C:A | P109H | 0.987 |
| 5:82252567:T:A | H153Q | 0.987 |
| 5:82252567:T:G | H153Q | 0.987 |
| 5:82253342:A:C | S194R | 0.986 |
| 5:82253344:C:A | S194R | 0.986 |
| 5:82253344:C:G | S194R | 0.986 |
| 5:82252566:A:G | H153R | 0.983 |
| 5:82253340:T:C | L193P | 0.983 |
| 5:82164495:A:C | S105R | 0.981 |
| 5:82164497:C:A | S105R | 0.981 |
| 5:82164497:C:G | S105R | 0.981 |
| 5:82178577:T:A | I148N | 0.981 |
| 5:82252586:T:C | F160L | 0.979 |
| 5:82252588:T:A | F160L | 0.979 |
| 5:82252588:T:G | F160L | 0.979 |
| 5:81987659:G:C | W30S | 0.978 |
| 5:82253338:G:C | W192C | 0.978 |
| 5:82253338:G:T | W192C | 0.978 |
| 5:81987604:T:C | F12L | 0.977 |
| 5:81987606:C:A | F12L | 0.977 |
| 5:81987606:C:G | F12L | 0.977 |
| 5:81987626:T:C | F19S | 0.977 |
dbSNP variants (sampled 300 via entrez): RS1000005023 (5:82244967 G>A), RS1000023263 (5:82166074 A>G), RS1000056171 (5:82138674 T>C), RS1000059863 (5:82076098 G>A,T), RS1000060573 (5:82029692 G>T), RS1000064345 (5:81984175 G>A), RS1000071640 (5:82242944 A>G), RS1000078198 (5:82200695 T>C), RS1000078695 (5:82036845 A>G), RS1000101312 (5:82108025 G>A), RS1000107969 (5:82138547 T>C,G), RS1000113875 (5:82006487 A>G), RS1000126815 (5:82174112 T>C), RS1000130193 (5:82083834 A>C,G), RS1000137966 (5:82127542 C>A,T)
Disease associations
OMIM: gene MIM:610800 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002941_13 | Airway imaging phenotypes | 1.000000e-06 |
| GCST004950_32 | Breast cancer | 5.000000e-11 |
| GCST004988_197 | Breast cancer | 2.000000e-12 |
| GCST007236_69 | Breast cancer | 4.000000e-09 |
| GCST007324_4 | Adventurousness | 7.000000e-10 |
| GCST007325_154 | General risk tolerance (MTAG) | 8.000000e-12 |
| GCST009921_1 | Carotid intima media thickness (mean) | 3.000000e-08 |
| GCST011741_51 | LDL cholesterol levels in HIV infection | 9.000000e-06 |
| GCST011743_39 | HDL cholesterol levels in HIV infection | 5.000000e-06 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007627 | airway imaging measurement |
| EFO:0008579 | risk-taking behaviour |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
2 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs1864183 | ATG10 | 0.00 | 0 | ||
| rs10514231 | ATG10 | 0.00 | 0 |
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, affects expression, affects cotreatment | 5 |
| sodium arsenite | affects expression, decreases expression, affects cotreatment, increases abundance | 4 |
| Benzo(a)pyrene | decreases expression | 4 |
| Arsenic | affects methylation, affects cotreatment, affects expression, decreases expression, increases abundance | 3 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 2 |
| Aflatoxin B1 | affects expression, decreases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| 7-hydroxydehydronuciferine | increases expression | 1 |
| methylmercuric chloride | decreases expression, increases expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| sinomenine | decreases expression, decreases reaction | 1 |
| arsenite | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression, affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| pentanal | decreases expression | 1 |
| polyhexamethyleneguanidine | decreases expression | 1 |
| chromium hexavalent ion | decreases expression | 1 |
| trovafloxacin | affects cotreatment, increases expression | 1 |
| buprofezin | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| 4-(2,6-dichlorobenzoylamino)-1H-pyrazole-3-carboxylic acid piperidin-4-ylamide | decreases expression | 1 |
| bisphenol S | affects cotreatment, decreases methylation | 1 |
| Irinotecan | decreases expression | 1 |
| Fulvestrant | increases methylation, decreases methylation, affects cotreatment | 1 |
| Dieldrin | increases response to substance | 1 |
| Estradiol | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1KB | Abcam HeLa ATG10 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.