DGLUCY
gene geneOn this page
Also known as FLJ39975
Summary
DGLUCY (D-glutamate cyclase, HGNC:20498) is a protein-coding gene on chromosome 14q32.11, encoding D-glutamate cyclase, mitochondrial (Q7Z3D6). D-glutamate cyclase that converts D-glutamate to 5-oxo-D-proline.
Predicted to enable D-glutamate cyclase activity. Predicted to be involved in glutamate metabolic process. Located in mitochondrion.
Source: NCBI Gene 80017 — RefSeq curated summary.
At a glance
- GWAS associations: 17
- Clinical variants (ClinVar): 41 total
- MANE Select transcript:
NM_001102368
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20498 |
| Approved symbol | DGLUCY |
| Name | D-glutamate cyclase |
| Location | 14q32.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ39975 |
| Ensembl gene | ENSG00000133943 |
| Ensembl biotype | protein_coding |
| OMIM | 620716 |
| Entrez | 80017 |
Gene structure
Transcript identifiers
Ensembl transcripts: 172 — 164 protein_coding, 4 nonsense_mediated_decay, 3 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000256324, ENST00000298858, ENST00000412671, ENST00000428926, ENST00000517306, ENST00000517362, ENST00000517518, ENST00000517877, ENST00000518649, ENST00000518665, ENST00000518868, ENST00000518871, ENST00000519019, ENST00000519950, ENST00000519994, ENST00000520130, ENST00000520328, ENST00000521064, ENST00000521077, ENST00000521081, ENST00000521334, ENST00000522170, ENST00000522322, ENST00000522816, ENST00000522837, ENST00000523461, ENST00000523576, ENST00000523771, ENST00000523816, ENST00000523837, ENST00000523879, ENST00000523894, ENST00000524232, ENST00000525393, ENST00000557303, ENST00000887117, ENST00000887118, ENST00000887119, ENST00000887120, ENST00000887121, ENST00000887122, ENST00000887123, ENST00000887124, ENST00000887125, ENST00000887126, ENST00000887127, ENST00000887128, ENST00000887129, ENST00000887130, ENST00000887131, ENST00000887132, ENST00000887133, ENST00000887134, ENST00000887135, ENST00000887136, ENST00000887137, ENST00000887138, ENST00000887139, ENST00000887140, ENST00000887141, ENST00000887142, ENST00000887143, ENST00000887144, ENST00000887145, ENST00000887146, ENST00000887147, ENST00000887148, ENST00000887149, ENST00000887150, ENST00000887151, ENST00000887152, ENST00000887153, ENST00000887154, ENST00000887155, ENST00000887156, ENST00000887157, ENST00000887158, ENST00000887159, ENST00000887160, ENST00000887161, ENST00000887162, ENST00000940050, ENST00000940051, ENST00000940052, ENST00000940053, ENST00000940054, ENST00000947791, ENST00000947792, ENST00000947793, ENST00000947794, ENST00000947795, ENST00000947796, ENST00000947797, ENST00000947798, ENST00000947799, ENST00000947800, ENST00000947801, ENST00000947802, ENST00000947803, ENST00000947804, ENST00000947805, ENST00000947806, ENST00000947807, ENST00000947808, ENST00000947809, ENST00000947810, ENST00000947811, ENST00000947812, ENST00000947813, ENST00000947814, ENST00000947815, ENST00000947816, ENST00000947817, ENST00000947818, ENST00000947819, ENST00000947820, ENST00000947821, ENST00000947822, ENST00000947823, ENST00000947824, ENST00000947825, ENST00000947826, ENST00000947827, ENST00000947828, ENST00000947829, ENST00000947830, ENST00000947831, ENST00000947832, ENST00000947833, ENST00000947834, ENST00000947835, ENST00000947836, ENST00000947837, ENST00000947838, ENST00000947839, ENST00000947840, ENST00000947841, ENST00000947842, ENST00000947843, ENST00000947844, ENST00000947845, ENST00000947846, ENST00000947847, ENST00000947848, ENST00000947849, ENST00000947850, ENST00000947851, ENST00000947852, ENST00000947853, ENST00000947854, ENST00000947855, ENST00000947856, ENST00000947857, ENST00000947858, ENST00000947859, ENST00000947860, ENST00000947861, ENST00000947862, ENST00000947863, ENST00000947864, ENST00000947865, ENST00000947866, ENST00000947867, ENST00000947868, ENST00000947869, ENST00000947870, ENST00000947871, ENST00000947872, ENST00000947873, ENST00000947874, ENST00000947875, ENST00000947877
RefSeq mRNA: 12 — MANE Select: NM_001102368
NM_001102366, NM_001102367, NM_001102368, NM_001102369, NM_001286470, NM_001286471, NM_001286472, NM_001286473, NM_001358310, NM_001358311, NM_001358312, NM_024952
CCDS: CCDS32141, CCDS41979, CCDS45150, CCDS66693, CCDS73677
Canonical transcript exons
ENST00000256324 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001196619 | 91157639 | 91157690 |
| ENSE00003261886 | 91224684 | 91225632 |
| ENSE00003496282 | 91188910 | 91189170 |
| ENSE00003544160 | 91160266 | 91160397 |
| ENSE00003566785 | 91175934 | 91176056 |
| ENSE00003600050 | 91204706 | 91204825 |
| ENSE00003648918 | 91181186 | 91181389 |
| ENSE00003667566 | 91199757 | 91199905 |
| ENSE00003685755 | 91215405 | 91215556 |
| ENSE00003784322 | 91167225 | 91167378 |
| ENSE00003785266 | 91173289 | 91173439 |
| ENSE00003787244 | 91196375 | 91196474 |
| ENSE00003790351 | 91170003 | 91170201 |
| ENSE00003906797 | 91114073 | 91114283 |
Expression profiles
Bgee: expression breadth ubiquitous, 292 present calls, max score 98.42.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.6277 / max 343.3181, expressed in 1796 samples.
FANTOM5 promoters (13 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 141048 | 17.4290 | 1678 |
| 141050 | 4.1371 | 1391 |
| 141045 | 2.5922 | 967 |
| 141053 | 1.3481 | 589 |
| 141049 | 1.2708 | 631 |
| 141054 | 0.9992 | 386 |
| 141046 | 0.8820 | 483 |
| 141051 | 0.6044 | 396 |
| 141055 | 0.4073 | 82 |
| 141052 | 0.3971 | 218 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| apex of heart | UBERON:0002098 | 98.42 | gold quality |
| heart left ventricle | UBERON:0002084 | 97.28 | gold quality |
| right atrium auricular region | UBERON:0006631 | 97.24 | gold quality |
| cardiac ventricle | UBERON:0002082 | 97.21 | gold quality |
| cardiac atrium | UBERON:0002081 | 96.89 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 96.84 | gold quality |
| triceps brachii | UBERON:0001509 | 96.12 | gold quality |
| heart | UBERON:0000948 | 95.92 | gold quality |
| gastrocnemius | UBERON:0001388 | 95.83 | gold quality |
| body of tongue | UBERON:0011876 | 95.78 | gold quality |
| muscle of leg | UBERON:0001383 | 95.74 | gold quality |
| body of stomach | UBERON:0001161 | 95.66 | gold quality |
| fundus of stomach | UBERON:0001160 | 95.62 | gold quality |
| granulocyte | CL:0000094 | 95.51 | gold quality |
| muscle organ | UBERON:0001630 | 95.50 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 95.49 | gold quality |
| rectum | UBERON:0001052 | 95.28 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 95.24 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 95.21 | gold quality |
| lower esophagus | UBERON:0013473 | 95.20 | gold quality |
| right uterine tube | UBERON:0001302 | 95.12 | gold quality |
| stomach | UBERON:0000945 | 95.04 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 95.03 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 95.02 | gold quality |
| transverse colon | UBERON:0001157 | 94.99 | gold quality |
| blood | UBERON:0000178 | 94.94 | gold quality |
| biceps brachii | UBERON:0001507 | 94.90 | gold quality |
| colonic epithelium | UBERON:0000397 | 94.79 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 94.76 | gold quality |
| sural nerve | UBERON:0015488 | 94.73 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
20 targeting DGLUCY, 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-5696 | 99.98 | 72.36 | 4487 |
| 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-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-548AU-3P | 99.70 | 68.22 | 1373 |
| HSA-MIR-7156-5P | 99.64 | 68.81 | 1369 |
| HSA-MIR-6716-5P | 99.56 | 68.62 | 1244 |
| HSA-MIR-661 | 99.09 | 65.94 | 2062 |
| HSA-MIR-7153-3P | 99.00 | 65.35 | 608 |
| HSA-MIR-5007-5P | 97.95 | 64.71 | 614 |
| HSA-MIR-4294 | 97.86 | 65.72 | 1110 |
| HSA-MIR-924 | 97.78 | 66.21 | 681 |
| HSA-MIR-4671-5P | 97.10 | 65.70 | 93 |
| HSA-MIR-2355-3P | 96.84 | 68.54 | 909 |
| HSA-MIR-3657 | 96.33 | 66.29 | 608 |
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dglucy | ENSDARG00000005179 |
| mus_musculus | Dglucy | ENSMUSG00000021185 |
| rattus_norvegicus | Dglucy | ENSRNOG00000004442 |
Protein
Protein identifiers
D-glutamate cyclase, mitochondrial — Q7Z3D6 (reviewed: Q7Z3D6)
All UniProt accessions (19): A0A0C4DGD4, A0A0C4DGD8, Q7Z3D6, E5RFT5, E5RFZ6, E5RGN8, E5RGP9, E5RHG2, E5RIL4, E5RIU5, E5RJ62, E5RJ87, E5RJD1, E5RJL7, E5RK14, E5RK56, H0YB09, H0YB11, H0YB62
UniProt curated annotations — full annotation on UniProt →
Function. D-glutamate cyclase that converts D-glutamate to 5-oxo-D-proline.
Subcellular location. Mitochondrion matrix.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Similarity. Belongs to the D-glutamate cyclase family.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q7Z3D6-1 | 1 | yes |
| Q7Z3D6-2 | 2 | |
| Q7Z3D6-3 | 3 | |
| Q7Z3D6-4 | 4 | |
| Q7Z3D6-5 | 5 | |
| Q7Z3D6-6 | 6 |
RefSeq proteins (12): NP_001095836, NP_001095837, NP_001095838, NP_001095839, NP_001273399, NP_001273400, NP_001273401, NP_001273402, NP_001345239, NP_001345240, NP_001345241, NP_079228 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009906 | D-Glu_cyclase | Domain |
| IPR017135 | D-Glu_cyclase_mito | Family |
| IPR025504 | GLUCM_C | Domain |
| IPR038021 | Putative_hydro-lyase | Homologous_superfamily |
Pfam: PF07286, PF14336
Catalyzed reactions (Rhea), 1 shown:
- D-glutamate = 5-oxo-D-proline + H2O (RHEA:22360)
UniProt features (21 total): splice variant 7, sequence variant 6, sequence conflict 6, transit peptide 1, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7Z3D6-F1 | 86.54 | 0.68 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 169 (showing top):
GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, GOBP_GLUTAMATE_METABOLIC_PROCESS, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_GLUTAMINE_FAMILY_AMINO_ACID_METABOLIC_PROCESS, GOBP_DICARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOMF_HYDRO_LYASE_ACTIVITY, CTGYNNCTYTAA_UNKNOWN, chr14q32, GOCC_MITOCHONDRIAL_MATRIX, MIKKELSEN_ES_ICP_WITH_H3K4ME3, MIKKELSEN_NPC_ICP_WITH_H3K4ME3, LINDGREN_BLADDER_CANCER_CLUSTER_1_UP, CAMP_UP.V1_UP, ARID5B_TARGET_GENES
GO Biological Process (1): glutamate metabolic process (GO:0006536)
GO Molecular Function (3): D-glutamate cyclase activity (GO:0047820), protein binding (GO:0005515), lyase activity (GO:0016829)
GO Cellular Component (2): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| amino acid metabolic process | 1 |
| dicarboxylic acid metabolic process | 1 |
| cyclase activity | 1 |
| hydro-lyase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| mitochondrion | 1 |
| intracellular organelle lumen | 1 |
Protein interactions and networks
STRING
482 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DGLUCY | NSFL1C | Q9UNZ2 | 492 |
| DGLUCY | STARD4 | Q96DR4 | 469 |
| DGLUCY | EPB42 | P16452 | 459 |
| DGLUCY | C8orf82 | Q6P1X6 | 448 |
| DGLUCY | C15orf40 | Q8WUR7 | 447 |
| DGLUCY | MKNK2 | Q9HBH9 | 429 |
| DGLUCY | JAM3 | Q9BX67 | 410 |
| DGLUCY | A0A0U1RQV1 | A0A0U1RQV1 | 400 |
| DGLUCY | IRAK2 | O43187 | 394 |
| DGLUCY | ADHFE1 | Q8IWW8 | 382 |
| DGLUCY | LRRN4CL | Q8ND94 | 379 |
| DGLUCY | ZNF780A | O75290 | 377 |
| DGLUCY | C2orf69 | Q8N8R5 | 370 |
| DGLUCY | C5orf63 | A6NC05 | 370 |
| DGLUCY | GCDH | Q92947 | 366 |
IntAct
24 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PSMA3 | DGLUCY | psi-mi:“MI:0915”(physical association) | 0.560 |
| DGLUCY | PSMA3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DGLUCY | BOLA3 | psi-mi:“MI:0914”(association) | 0.350 |
| NME4 | NRDC | psi-mi:“MI:0914”(association) | 0.350 |
| DGLUCY | SLC25A6 | psi-mi:“MI:0914”(association) | 0.350 |
| NDUFAF8 | ALDH1L1 | psi-mi:“MI:0914”(association) | 0.350 |
| PAK5 | HTRA2 | psi-mi:“MI:0914”(association) | 0.350 |
| DGLUCY | MSRB2 | psi-mi:“MI:0914”(association) | 0.350 |
| NDUFAF8 | NDUFAB1 | psi-mi:“MI:0914”(association) | 0.350 |
| DENND11 | psi-mi:“MI:0914”(association) | 0.350 | |
| NUDT19 | psi-mi:“MI:0914”(association) | 0.350 | |
| GPR182 | SLC12A8 | psi-mi:“MI:0914”(association) | 0.350 |
| YARS2 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| FAHD1 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR45 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| NIPSNAP3A | NUDT19 | psi-mi:“MI:0914”(association) | 0.350 |
| P2RY8 | BTAF1 | psi-mi:“MI:0914”(association) | 0.350 |
| NIPSNAP3B | CLUH | psi-mi:“MI:0914”(association) | 0.350 |
| FECH | GTPBP10 | psi-mi:“MI:0914”(association) | 0.350 |
| DGLUCY | psi-mi:“MI:0915”(physical association) | 0.000 | |
| LCOR | DGLUCY | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (24): C14orf159 (Two-hybrid), C14orf159 (Affinity Capture-MS), MSRB2 (Affinity Capture-MS), BOLA3 (Affinity Capture-MS), C14orf159 (Affinity Capture-MS), SLC25A6 (Affinity Capture-MS), C14orf159 (Affinity Capture-MS), C14orf159 (Positive Genetic), C14orf159 (Affinity Capture-MS), C14orf159 (Affinity Capture-MS), C14orf159 (Affinity Capture-RNA), C14orf159 (Affinity Capture-MS), C14orf159 (Affinity Capture-MS), C14orf159 (Affinity Capture-MS), C14orf159 (Affinity Capture-MS)
ESM2 similar proteins: A0A1S4BZI5, A0A1S4CB73, B0F481, D2HRF1, F4I933, F4IY62, F4JKB6, F4JVN6, O23324, O23553, O80585, O82043, O82768, P10349, P30706, P36428, P42898, Q01292, Q05758, Q0J6P7, Q10S55, Q2QTL0, Q39639, Q42713, Q43307, Q43822, Q43870, Q5I598, Q5U2Z5, Q60HE5, Q66GI4, Q75HE6, Q7Z3D6, Q80YD1, Q8BH86, Q8H0W0, Q8K224, Q8RWG3, Q8VYL1, Q944I4
Diamond homologs: A0AY13, A0K0Y1, A0LNR4, A0ZZH5, A1AYU1, A1SCV3, A1TSX9, A1WS32, A3M452, A4FA00, A4JL57, A4QGU3, A4T1E2, A4VN63, A4YR32, A5EFR6, A6LX31, A6TSF6, A6V669, A6W5D4, A7IFF8, A7Z1F3, A8FA09, A8HRQ8, A8LLX6, A8LPN3, A9AQ22, A9BMR1, A9H2B4, A9ILF0, B0K189, B0K9K2, B0UBJ1, B0VAY4, B0VRR2, B1K6C3, B1KND9, B1LSM6, B1VIF7, B1YZG1
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
41 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 18 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3409 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:91160264:A:AG | acceptor_gain | 1.0000 |
| 14:91160265:G:GG | acceptor_gain | 1.0000 |
| 14:91160394:GGAG:G | donor_gain | 1.0000 |
| 14:91160395:GAG:G | donor_gain | 1.0000 |
| 14:91160395:GAGG:G | donor_gain | 1.0000 |
| 14:91160396:AGGTA:A | donor_loss | 1.0000 |
| 14:91160397:GGTA:G | donor_loss | 1.0000 |
| 14:91160398:G:GG | donor_gain | 1.0000 |
| 14:91160398:GTA:G | donor_loss | 1.0000 |
| 14:91160399:T:A | donor_loss | 1.0000 |
| 14:91188908:AG:A | acceptor_gain | 1.0000 |
| 14:91188909:GG:G | acceptor_gain | 1.0000 |
| 14:91189166:GCAAG:G | donor_gain | 1.0000 |
| 14:91189169:AGG:A | donor_loss | 1.0000 |
| 14:91189171:GTAA:G | donor_loss | 1.0000 |
| 14:91189172:T:A | donor_loss | 1.0000 |
| 14:91196373:A:G | acceptor_gain | 1.0000 |
| 14:91196473:AGG:A | donor_loss | 1.0000 |
| 14:91196475:G:A | donor_loss | 1.0000 |
| 14:91199751:C:A | acceptor_gain | 1.0000 |
| 14:91199752:GGCA:G | acceptor_loss | 1.0000 |
| 14:91199753:GCAG:G | acceptor_loss | 1.0000 |
| 14:91199755:A:AG | acceptor_gain | 1.0000 |
| 14:91199755:A:C | acceptor_loss | 1.0000 |
| 14:91199756:G:GA | acceptor_gain | 1.0000 |
| 14:91199756:GA:G | acceptor_gain | 1.0000 |
| 14:91199756:GAT:G | acceptor_gain | 1.0000 |
| 14:91199756:GATT:G | acceptor_gain | 1.0000 |
| 14:91199756:GATTT:G | acceptor_gain | 1.0000 |
| 14:91199901:AACTG:A | donor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000001054 (14:91071041 T>C), RS1000026482 (14:91159046 G>A), RS1000045287 (14:91118678 A>G), RS1000049388 (14:91078428 T>C,G), RS1000103424 (14:91072354 A>G), RS1000132106 (14:91133469 C>G,T), RS1000147028 (14:91182367 A>G), RS1000165267 (14:91191295 A>G), RS1000171131 (14:91213016 A>T), RS1000179691 (14:91178473 A>G), RS1000198328 (14:91193894 C>A,T), RS1000229544 (14:91218252 A>C,T), RS1000230719 (14:91094098 C>T), RS1000288088 (14:91093876 G>C,T), RS1000288261 (14:91143244 C>T)
Disease associations
OMIM: gene MIM:620716 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
17 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003818_68 | Resting heart rate | 5.000000e-09 |
| GCST004097_2 | Response to platinum-based neoadjuvant chemotherapy in cervical cancer | 7.000000e-06 |
| GCST005956_47 | Waist-to-hip ratio adjusted for BMI | 7.000000e-07 |
| GCST005962_28 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 7.000000e-07 |
| GCST009733_10 | Urinary metabolite levels in chronic kidney disease | 2.000000e-37 |
| GCST90013663_46 | Alanine aminotransferase levels | 1.000000e-09 |
| GCST90013664_22 | Aspartate aminotransferase levels | 2.000000e-08 |
| GCST90020024_475 | A body shape index | 2.000000e-13 |
| GCST90020024_476 | A body shape index | 1.000000e-09 |
| GCST90020025_432 | Waist-to-hip ratio adjusted for BMI | 4.000000e-22 |
| GCST90020025_433 | Waist-to-hip ratio adjusted for BMI | 7.000000e-12 |
| GCST90020025_434 | Waist-to-hip ratio adjusted for BMI | 3.000000e-08 |
| GCST90020027_612 | Waist-hip index | 4.000000e-08 |
| GCST90020027_685 | Waist-hip index | 9.000000e-23 |
| GCST90020027_686 | Waist-hip index | 3.000000e-12 |
| GCST90020029_276 | Waist circumference adjusted for body mass index | 4.000000e-13 |
| GCST90020029_277 | Waist circumference adjusted for body mass index | 4.000000e-09 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007943 | response to platinum-based neoadjuvant chemotherapy |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0005116 | urinary metabolite measurement |
| EFO:0004736 | aspartate aminotransferase measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, increases expression | 3 |
| bisphenol A | increases expression, decreases methylation | 2 |
| methacrylaldehyde | affects cotreatment, decreases expression, increases oxidation, increases abundance | 2 |
| perfluorooctane sulfonic acid | decreases expression, increases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Acrolein | affects cotreatment, decreases expression, increases oxidation, increases abundance | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression, decreases methylation, increases methylation | 2 |
| Ozone | increases abundance, affects cotreatment, decreases expression, increases oxidation | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, decreases expression, increases oxidation, increases abundance | 1 |
| beta-lapachone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| perfluorohexanesulfonic acid | decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Air Pollutants | increases abundance, increases oxidation, affects cotreatment, decreases expression | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Gallic Acid | decreases expression | 1 |
| Naled | affects expression | 1 |
| Thiram | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SG03 | HAP1 C14orf159 (-) 1 | Cancer cell line | Male |
| CVCL_XM17 | HAP1 C14orf159 (-) 2 | Cancer cell line | Male |
| CVCL_XM18 | HAP1 C14orf159 (-) 3 | Cancer cell line | Male |
| CVCL_XM19 | HAP1 C14orf159 (-) 4 | Cancer cell line | Male |
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.