FAAP20
gene geneOn this page
Also known as FLJ31031
Summary
FAAP20 (FA core complex associated protein 20, HGNC:26428) is a protein-coding gene on chromosome 1p36.33, encoding Fanconi anemia core complex-associated protein 20 (Q6NZ36). Component of the Fanconi anemia (FA) complex required to recruit the FA complex to DNA interstrand cross-links (ICLs) and promote ICLs repair. It is a selective cancer dependency (DepMap: 12.4% of cell lines).
Enables K63-linked polyubiquitin modification-dependent protein binding activity and ubiquitin-modified protein reader activity. Involved in interstrand cross-link repair and translesion synthesis. Located in cell junction; chromatin; and nuclear body. Part of Fanconi anaemia nuclear complex.
Source: NCBI Gene 199990 — RefSeq curated summary.
At a glance
- GWAS associations: 92
- Clinical variants (ClinVar): 43 total — 2 pathogenic
- Cancer dependency (DepMap): dependent in 12.4% of screened cell lines
- MANE Select transcript:
NM_182533
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26428 |
| Approved symbol | FAAP20 |
| Name | FA core complex associated protein 20 |
| Location | 1p36.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ31031 |
| Ensembl gene | ENSG00000162585 |
| Ensembl biotype | protein_coding |
| OMIM | 615183 |
| Entrez | 199990 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 9 protein_coding, 4 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay, 3 retained_intron
ENST00000378543, ENST00000378546, ENST00000400918, ENST00000400919, ENST00000401813, ENST00000414253, ENST00000420515, ENST00000420964, ENST00000428120, ENST00000440825, ENST00000469733, ENST00000476803, ENST00000487186, ENST00000497675, ENST00000514625, ENST00000904918, ENST00000904919, ENST00000904920, ENST00000925510
RefSeq mRNA: 9 — MANE Select: NM_182533
NM_001146310, NM_001256945, NM_001256946, NM_001256947, NM_001282670, NM_001282671, NM_001282672, NM_001282673, NM_182533
CCDS: CCDS38, CCDS57965, CCDS72686, CCDS72687
Canonical transcript exons
ENST00000378546 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001822711 | 2194688 | 2194772 |
| ENSE00003467961 | 2193998 | 2194133 |
| ENSE00003483048 | 2189548 | 2189781 |
| ENSE00003510741 | 2193639 | 2193910 |
Expression profiles
Bgee: expression breadth ubiquitous, 237 present calls, max score 97.46.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 48.8062 / max 298.5511, expressed in 1823 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 9873 | 40.2914 | 1822 |
| 9872 | 5.2340 | 1642 |
| 9871 | 2.7249 | 1368 |
| 9874 | 0.5560 | 290 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adenohypophysis | UBERON:0002196 | 97.46 | gold quality |
| right uterine tube | UBERON:0001302 | 96.72 | gold quality |
| endocervix | UBERON:0000458 | 96.63 | gold quality |
| pituitary gland | UBERON:0000007 | 96.50 | gold quality |
| apex of heart | UBERON:0002098 | 96.24 | gold quality |
| right testis | UBERON:0004534 | 95.94 | gold quality |
| left uterine tube | UBERON:0001303 | 95.83 | gold quality |
| body of uterus | UBERON:0009853 | 95.83 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 95.78 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 95.71 | gold quality |
| ectocervix | UBERON:0012249 | 95.67 | gold quality |
| left testis | UBERON:0004533 | 95.63 | gold quality |
| right adrenal gland | UBERON:0001233 | 95.61 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 95.58 | gold quality |
| metanephros cortex | UBERON:0010533 | 95.54 | gold quality |
| mucosa of stomach | UBERON:0001199 | 95.53 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 95.50 | gold quality |
| lower esophagus | UBERON:0013473 | 95.33 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 95.33 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 95.32 | gold quality |
| body of stomach | UBERON:0001161 | 95.27 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 95.27 | gold quality |
| ascending aorta | UBERON:0001496 | 95.25 | gold quality |
| thoracic aorta | UBERON:0001515 | 95.23 | gold quality |
| left adrenal gland | UBERON:0001234 | 95.18 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 95.08 | gold quality |
| right ovary | UBERON:0002118 | 95.05 | gold quality |
| left coronary artery | UBERON:0001626 | 94.78 | gold quality |
| left ovary | UBERON:0002119 | 94.77 | gold quality |
| hypothalamus | UBERON:0001898 | 94.73 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 11.13 |
| E-MTAB-10042 | yes | 4.14 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
14 targeting FAAP20, 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-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-5003-5P | 99.61 | 69.13 | 1624 |
| HSA-MIR-6787-5P | 97.54 | 63.85 | 457 |
| HSA-MIR-939-5P | 97.10 | 65.80 | 1579 |
| HSA-MIR-10396B-5P | 94.99 | 63.57 | 358 |
| HSA-MIR-1908-5P | 94.99 | 63.41 | 352 |
| HSA-MIR-663A | 94.99 | 63.54 | 378 |
| HSA-MIR-744-5P | 93.78 | 65.29 | 230 |
| HSA-MIR-10396A-5P | 93.49 | 65.54 | 172 |
| HSA-MIR-4508 | 90.37 | 59.62 | 240 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 12.4% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 8)
- FAAP20 contains a conserved ubiquitin-binding zinc-finger domain and binds K-63-linked ubiquitin chains in vitro. The FAAP20-UBZ domain is not required for interaction with FANCA, but is required for DNA-damage-induced chromatin loading of FANCA and the functional integrity of the Fanconi anemia pathway. (PMID:22343915)
- FAAP20 is an important player involved in the Fanconi anemia pathway (PMID:22396592)
- Data indicate that RNF8 and FAAP20 (C1orf86) are needed for efficient Fanconi anemia group D2 protein FANCD2 monoubiquitination. (PMID:22705371)
- FAAP20-ubiquitin interaction expands beyond the compact UBZ domain and requires the folding and interaction of the otherwise disordered C-terminal tail of FAAP20 for high-affinity binding. (PMID:25414354)
- Data suggest Rev1 protein recognition mechanism by Fanconi anemia-associated protein 20 (FAAP20). (PMID:26318859)
- Study identify SCF-FBW7 as a ubiquitin E3 ligase that regulates the cellular FAAP20 levels and Fanconi anemia (FA) pathway. Deregulation of the GSK3beta- and FBW7-dependent FAAP20 degradation leads to a defect in the FA pathway, establishing a direct link between FBW7 and DNA repair. (PMID:27232758)
- Acetylation modulates the Fanconi anemia pathway by protecting FAAP20 from ubiquitin-mediated proteasomal degradation. (PMID:32763975)
- Fanconi anemia associated protein 20 (FAAP20) plays an essential role in homology-directed repair of DNA double-strand breaks. (PMID:37620397)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Faap20 | ENSMUSG00000073684 |
| rattus_norvegicus | Faap20 | ENSRNOG00000036876 |
Protein
Protein identifiers
Fanconi anemia core complex-associated protein 20 — Q6NZ36 (reviewed: Q6NZ36)
Alternative names: FANCA-associated protein of 20 kDa, Fanconi anemia-associated protein of 20 kDa
All UniProt accessions (5): Q6NZ36, F6S8H2, H7C2E6, H7C361, H7C3A6
UniProt curated annotations — full annotation on UniProt →
Function. Component of the Fanconi anemia (FA) complex required to recruit the FA complex to DNA interstrand cross-links (ICLs) and promote ICLs repair. Following DNA damage recognizes and binds ‘Lys-63’-linked ubiquitin generated by RNF8 at ICLs and recruits other components of the FA complex. Promotes translesion synthesis via interaction with REV1.
Subunit / interactions. Component of the Fanconi anemia (FA) complex. Interacts with FANCA; interaction is direct. Interacts (via UBZ2-type zinc finger) with REV1; this interaction contributes to the stable association of the two proteins in nuclear foci in response to replication stress. Reported to bind monoubiquitinated REV1; however it binds better to non-ubiquitinated REV1.
Subcellular location. Nucleus. Chromosome.
Domain organisation. The UBZ2-type zinc finger binds both ‘Lys-48’- and ‘Lys-63’-linked polyubiquitin with preference for ‘Lys-63’-linked polyubiquitin.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6NZ36-1 | 1 | yes |
| Q6NZ36-2 | 2 | |
| Q6NZ36-3 | 3 | |
| Q6NZ36-4 | 4 | |
| Q6NZ36-5 | 5 | |
| Q6NZ36-6 | 6 |
RefSeq proteins (7): NP_001243874, NP_001243875, NP_001243876, NP_001269600, NP_001269601, NP_001269602, NP_872339* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR031490 | UBZ2_FAAP20 | Domain |
| IPR031491 | FANCA_interact | Domain |
| IPR052689 | FA_core_complex_assoc | Family |
Pfam: PF15750, PF15751
UniProt features (31 total): splice variant 6, sequence conflict 5, mutagenesis site 4, binding site 4, modified residue 2, region of interest 2, strand 2, chain 1, zinc finger region 1, sequence variant 1, turn 1, helix 1, compositionally biased region 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3WWQ | X-RAY DIFFRACTION | 1.9 |
| 2MUQ | SOLUTION NMR | |
| 2MUR | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6NZ36-F1 | 66.28 | 0.08 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (4): 147; 150; 166; 170
Post-translational modifications (2): 137, 113
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 147 | abolishes binding to ubiquitin. abolishes binding to ubiquitin; when associated with a-150. |
| 150 | abolishes binding to ubiquitin; when associated with a-147. |
| 164 | abolishes binding to ubiquitin. |
| 170 | abolishes binding to ubiquitin. |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-6783310 | Fanconi Anemia Pathway |
| R-HSA-9833482 | PKR-mediated signaling |
MSigDB gene sets: 128 (showing top):
REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_DNA_DAMAGE_TOLERANCE, MARTINEZ_RB1_TARGETS_DN, GOBP_DNA_DAMAGE_RESPONSE, GOBP_DNA_BIOSYNTHETIC_PROCESS, GOBP_INTERSTRAND_CROSS_LINK_REPAIR, REACTOME_FANCONI_ANEMIA_PATHWAY, DOUGLAS_BMI1_TARGETS_UP, REACTOME_DNA_REPAIR, GOBP_DNA_REPLICATION, GTCGATC_MIR3695P, BERTUCCI_INVASIVE_CARCINOMA_DUCTAL_VS_LOBULAR_UP, MULLIGHAN_MLL_SIGNATURE_2_DN, GOCC_FANCONI_ANAEMIA_NUCLEAR_COMPLEX, GOCC_NUCLEAR_BODY
GO Biological Process (4): DNA damage response (GO:0006974), translesion synthesis (GO:0019985), interstrand cross-link repair (GO:0036297), DNA repair (GO:0006281)
GO Molecular Function (7): zinc ion binding (GO:0008270), polyubiquitin modification-dependent protein binding (GO:0031593), ubiquitin binding (GO:0043130), K63-linked polyubiquitin modification-dependent protein binding (GO:0070530), ubiquitin-modified protein reader activity (GO:0140036), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (8): chromatin (GO:0000785), nucleoplasm (GO:0005654), chromosome (GO:0005694), cytosol (GO:0005829), nuclear body (GO:0016604), cell junction (GO:0030054), Fanconi anaemia nuclear complex (GO:0043240), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| DNA Repair | 1 |
| Antimicrobial mechanism of IFN-stimulated genes | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| intracellular membraneless organelle | 2 |
| cellular response to stress | 1 |
| DNA damage tolerance | 1 |
| DNA synthesis involved in DNA replication | 1 |
| DNA repair | 1 |
| DNA metabolic process | 1 |
| DNA damage response | 1 |
| transition metal ion binding | 1 |
| modification-dependent protein binding | 1 |
| ubiquitin-like protein binding | 1 |
| polyubiquitin modification-dependent protein binding | 1 |
| ubiquitin-like protein reader activity | 1 |
| binding | 1 |
| cation binding | 1 |
| chromosome | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| nucleoplasm | 1 |
| nuclear protein-containing complex | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| REV1 | FAAP20 | psi-mi:“MI:0407”(direct interaction) | 0.540 |
| REV1 | FAAP20 | psi-mi:“MI:0915”(physical association) | 0.540 |
| S100P | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| FAAP20 | FANCG | psi-mi:“MI:0914”(association) | 0.350 |
| CEP170 | ERVK3-1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| FAAP20 | psi-mi:“MI:0915”(physical association) | 0.000 | |
| FAAP20 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (124): UBC (Reconstituted Complex), UBC (Co-crystal Structure), UBC (Reconstituted Complex), C1orf86 (Affinity Capture-MS), C1orf86 (Affinity Capture-MS), FANCA (Affinity Capture-MS), C17orf70 (Affinity Capture-MS), FANCB (Affinity Capture-MS), FANCG (Affinity Capture-MS), FANCC (Affinity Capture-MS), FANCE (Affinity Capture-MS), FANCL (Affinity Capture-MS), FANCF (Affinity Capture-MS), FANCA (Co-fractionation), FANCG (Co-fractionation)
ESM2 similar proteins: A0A0U1RRK4, A0A1W2PPE3, A0A1W2PR82, A0A2Z4LIS9, A2VE02, A4D1S0, A5PKC7, A5PL33, A6H7B4, A6NEL2, A6QP24, A6QPM6, A8MTW9, A8MYA2, D3ZAQ5, D4AAA5, E7EW31, O75474, O75638, O89113, O94850, P0C7X2, P14652, P50617, P70339, Q2KIS6, Q3UN58, Q5JPB2, Q5VZ46, Q6GQX2, Q6NZ36, Q6ZSJ8, Q6ZW13, Q76NI1, Q7TNS8, Q80TS7, Q86UU5, Q8IWN7, Q8N6K4, Q8N944
Diamond homologs: A5PKK9, D4AAA5, Q3UN58, Q6NZ36
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| GSK3B | “down-regulates quantity” | FAAP20 | phosphorylation |
Disease & clinical
Cancer significance
Clinical variants and AI predictions
ClinVar
43 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 17 |
| Likely benign | 8 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1808716 | GRCh37/hg19 1p36.33-36.32(chr1:2056695-2447725)x1 | Pathogenic |
| 58320 | GRCh38/hg38 1p36.33(chr1:2112214-2241243)x1 | Pathogenic |
SpliceAI
1055 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:2193635:TCA:T | donor_loss | 0.9800 |
| 1:2193636:CA:C | donor_loss | 0.9800 |
| 1:2193638:C:T | donor_loss | 0.9800 |
| 1:2193633:ACT:A | donor_loss | 0.9700 |
| 1:2194001:T:TA | donor_gain | 0.9700 |
| 1:2194677:C:CA | donor_gain | 0.9700 |
| 1:2194686:ACCCG:A | donor_gain | 0.9700 |
| 1:2194687:CCCG:C | donor_gain | 0.9700 |
| 1:2194687:CCCGC:C | donor_gain | 0.9700 |
| 1:2194690:G:A | donor_gain | 0.9700 |
| 1:2191946:G:C | donor_gain | 0.9500 |
| 1:2194682:CCTCA:C | donor_loss | 0.9500 |
| 1:2194683:CTCA:C | donor_loss | 0.9500 |
| 1:2194684:TCAC:T | donor_loss | 0.9500 |
| 1:2194685:CACCC:C | donor_loss | 0.9500 |
| 1:2194707:T:TA | donor_gain | 0.9500 |
| 1:2194719:A:C | donor_gain | 0.9500 |
| 1:2212396:C:CT | acceptor_gain | 0.9500 |
| 1:2212396:C:T | acceptor_gain | 0.9500 |
| 1:2194718:AAC:A | donor_gain | 0.9400 |
| 1:2193637:A:AC | donor_gain | 0.9300 |
| 1:2193638:C:CC | donor_gain | 0.9300 |
| 1:2194681:GCCT:G | donor_loss | 0.9300 |
| 1:2194717:CA:C | donor_gain | 0.9300 |
| 1:2194718:AA:A | donor_gain | 0.9300 |
| 1:2212397:A:T | acceptor_gain | 0.9300 |
| 1:2191945:A:AC | donor_gain | 0.9200 |
| 1:2194686:A:AC | donor_gain | 0.9200 |
| 1:2194686:AC:A | donor_gain | 0.9200 |
| 1:2194687:C:CC | donor_gain | 0.9200 |
AlphaMissense
1137 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:2193647:G:C | F154L | 0.992 |
| 1:2193647:G:T | F154L | 0.992 |
| 1:2193649:A:G | F154L | 0.992 |
| 1:2193648:A:C | F154C | 0.988 |
| 1:2193670:A:G | C147R | 0.987 |
| 1:2193854:A:C | F85L | 0.987 |
| 1:2193854:A:T | F85L | 0.987 |
| 1:2193856:A:G | F85L | 0.987 |
| 1:2189744:A:G | C170R | 0.986 |
| 1:2193876:A:G | F78S | 0.986 |
| 1:2193875:G:C | F78L | 0.985 |
| 1:2193875:G:T | F78L | 0.985 |
| 1:2193877:A:G | F78L | 0.985 |
| 1:2189743:C:G | C170S | 0.983 |
| 1:2189744:A:T | C170S | 0.983 |
| 1:2189754:G:C | H166Q | 0.983 |
| 1:2189754:G:T | H166Q | 0.983 |
| 1:2189740:A:G | L171S | 0.981 |
| 1:2193660:C:G | C150S | 0.980 |
| 1:2193661:A:T | C150S | 0.980 |
| 1:2193850:A:G | W87R | 0.980 |
| 1:2193850:A:T | W87R | 0.980 |
| 1:2193661:A:G | C150R | 0.979 |
| 1:2189742:G:C | C170W | 0.978 |
| 1:2193648:A:G | F154S | 0.978 |
| 1:2193669:C:T | C147Y | 0.974 |
| 1:2193848:C:A | W87C | 0.974 |
| 1:2193848:C:G | W87C | 0.974 |
| 1:2189756:G:C | H166D | 0.970 |
| 1:2193669:C:G | C147S | 0.970 |
dbSNP variants (sampled 300 via entrez): RS1000062211 (1:2198007 C>G,T), RS1000121336 (1:2198283 G>A,T), RS1000153900 (1:2198452 G>A), RS1000440755 (1:2192167 G>A,T), RS1000459521 (1:2197059 G>A), RS1000492189 (1:2197300 C>T), RS1000512883 (1:2201889 C>G), RS1000687465 (1:2212373 G>A,C), RS1000777650 (1:2188143 A>G), RS1000814479 (1:2191235 C>T), RS1000836533 (1:2207626 G>A), RS1000877215 (1:2192391 T>C), RS1000939109 (1:2191901 T>C), RS1000978110 (1:2212336 C>A,G), RS1001020011 (1:2205102 T>A,C,G)
Disease associations
OMIM: gene MIM:615183 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
92 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005951_34 | Body mass index | 3.000000e-08 |
| GCST005951_35 | Body mass index | 4.000000e-08 |
| GCST006913_5 | Sedentary behaviour duration | 5.000000e-08 |
| GCST010346_12 | TPE interval (resting) | 4.000000e-10 |
| GCST010796_2431 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-08 |
| GCST010796_2432 | Electrocardiogram morphology (amplitude at temporal datapoints) | 9.000000e-09 |
| GCST010796_2433 | Electrocardiogram morphology (amplitude at temporal datapoints) | 9.000000e-09 |
| GCST010796_2434 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-08 |
| GCST010796_2435 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-08 |
| GCST010796_2436 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-09 |
| GCST010796_2437 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-09 |
| GCST010796_2438 | Electrocardiogram morphology (amplitude at temporal datapoints) | 8.000000e-10 |
| GCST010796_2439 | Electrocardiogram morphology (amplitude at temporal datapoints) | 8.000000e-10 |
| GCST010796_2440 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-10 |
| GCST010796_2441 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-11 |
| GCST010796_2442 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1.000000e-11 |
| GCST010796_2443 | Electrocardiogram morphology (amplitude at temporal datapoints) | 9.000000e-10 |
| GCST010796_2444 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-08 |
| GCST010796_2445 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-08 |
| GCST010796_2446 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-08 |
| GCST010796_2447 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4.000000e-08 |
| GCST010796_2448 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-09 |
| GCST010796_2449 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-11 |
| GCST010796_2450 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-12 |
| GCST010796_2451 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-13 |
| GCST010796_2452 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-15 |
| GCST010796_2453 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-16 |
| GCST010796_2454 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4.000000e-17 |
| GCST010796_2455 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-17 |
| GCST010796_2456 | Electrocardiogram morphology (amplitude at temporal datapoints) | 7.000000e-17 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0008002 | physical activity measurement |
| EFO:0004644 | TPE interval measurement |
| EFO:0004327 | electrocardiography |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects methylation, increases abundance, affects expression | 2 |
| Particulate Matter | increases expression, decreases expression, decreases reaction, affects cotreatment, increases abundance | 2 |
| sodium arsenite | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| K 7174 | decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases expression, decreases reaction | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Ethanol | affects cotreatment, increases abundance, increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Atrazine | decreases expression | 1 |
| Vehicle Emissions | decreases expression, decreases reaction | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Diazinon | increases methylation | 1 |
| Formaldehyde | decreases expression | 1 |
| Gasoline | increases abundance, increases expression, affects cotreatment | 1 |
| Methapyrilene | decreases methylation | 1 |
| Nitrogen Dioxide | increases abundance, affects methylation | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, increases abundance, increases expression | 1 |
| Smoke | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Gold Compounds | increases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
| 1-Butanol | affects cotreatment, increases abundance, increases expression | 1 |
| Permethrin | increases expression | 1 |
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.