BRINP1
gene geneOn this page
Also known as FAM5A
Summary
BRINP1 (BMP/retinoic acid inducible neural specific 1, HGNC:2687) is a protein-coding gene on chromosome 9q33.1, encoding BMP/retinoic acid-inducible neural-specific protein 1 (O60477). Plays a role in neurogenesis and brain development.
This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. It contains a 5’ CpG island that may be a frequent target of hypermethylation, and it may undergo hypermethylation-based silencing in some bladder cancers.
Source: NCBI Gene 1620 — RefSeq curated summary.
At a glance
- GWAS associations: 15
- Clinical variants (ClinVar): 13 total
- MANE Select transcript:
NM_014618
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2687 |
| Approved symbol | BRINP1 |
| Name | BMP/retinoic acid inducible neural specific 1 |
| Location | 9q33.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FAM5A |
| Ensembl gene | ENSG00000078725 |
| Ensembl biotype | protein_coding |
| OMIM | 602865 |
| Entrez | 1620 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 5 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000265922, ENST00000373964, ENST00000482797, ENST00000936748, ENST00000936749, ENST00000958983
RefSeq mRNA: 1 — MANE Select: NM_014618
NM_014618
CCDS: CCDS6822
Canonical transcript exons
ENST00000265922 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000723362 | 119238655 | 119238760 |
| ENSE00000723367 | 119242047 | 119242216 |
| ENSE00000723371 | 119248960 | 119249150 |
| ENSE00000926953 | 119208719 | 119208941 |
| ENSE00000926954 | 119213919 | 119214155 |
| ENSE00001168324 | 119166629 | 119168224 |
| ENSE00001168335 | 119313138 | 119313405 |
| ENSE00003342941 | 119369056 | 119369435 |
Expression profiles
Bgee: expression breadth ubiquitous, 200 present calls, max score 96.95.
FANTOM5 (CAGE): breadth broad, TPM avg 3.8192 / max 193.2541, expressed in 507 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 102267 | 3.5626 | 492 |
| 102268 | 0.1703 | 90 |
| 102266 | 0.0863 | 49 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| middle temporal gyrus | UBERON:0002771 | 96.95 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 96.44 | gold quality |
| entorhinal cortex | UBERON:0002728 | 96.07 | gold quality |
| primary visual cortex | UBERON:0002436 | 95.75 | gold quality |
| postcentral gyrus | UBERON:0002581 | 94.90 | gold quality |
| occipital lobe | UBERON:0002021 | 93.88 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 93.83 | gold quality |
| parietal lobe | UBERON:0001872 | 93.76 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 92.94 | gold quality |
| prefrontal cortex | UBERON:0000451 | 92.79 | gold quality |
| frontal pole | UBERON:0002795 | 92.76 | gold quality |
| frontal cortex | UBERON:0001870 | 92.14 | gold quality |
| buccal mucosa cell | CL:0002336 | 92.07 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 91.98 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 91.95 | gold quality |
| right frontal lobe | UBERON:0002810 | 91.72 | gold quality |
| temporal lobe | UBERON:0001871 | 91.59 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 91.48 | gold quality |
| cerebral cortex | UBERON:0000956 | 91.42 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 91.37 | gold quality |
| neocortex | UBERON:0001950 | 91.36 | gold quality |
| paraflocculus | UBERON:0005351 | 90.99 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 90.94 | gold quality |
| telencephalon | UBERON:0001893 | 90.51 | gold quality |
| Ammon’s horn | UBERON:0001954 | 90.29 | gold quality |
| cerebellum | UBERON:0002037 | 90.22 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 90.02 | gold quality |
| cerebellar cortex | UBERON:0002129 | 90.01 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 89.69 | gold quality |
| cortical plate | UBERON:0005343 | 89.63 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.38 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): REST
miRNA regulators (miRDB)
81 targeting BRINP1, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-6759-5P | 99.99 | 66.54 | 785 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
Literature-anchored findings (GeneRIF, showing 10)
- DBCCR1 is involved in the process of bladder tumorigenesis (PMID:12442002)
- the prevalent inactivation of DBCCR1 seen at the expression level in astrocytomas is not primarily caused by genomic loss of the gene. (PMID:15643521)
- likely tumor suppressor for NSCLC;silencing through homozygous deletion or methylation of its promoter promotes progression (PMID:15746151)
- hypermethylation of the DBC1 promoter region is a frequent event during the development of lymphoproliferative malignancies (PMID:18264085)
- High DBC1 expression is associated with breast and lung cancer.. (PMID:20429629)
- Rxpression of DBC1 and SIRT1 is a significant prognostic indicator for breast carcinoma patients. (PMID:21056897)
- the stress-induced DBC1-SIRT1 interaction is important for cell fate determination following genotoxic stress. (PMID:22465953)
- we found that the SIRT1 modulators AROS and DBC1 have an impact on hsp70 transcription, HSF1 acetylation status, and HSF1 recruitment to the hsp70 promoter (PMID:23349863)
- DBC1 modulates the stability and function of the nuclear receptor Rev-erb-alpha. (PMID:23398316)
- Results found that the expression of DBCCR1 is significantly lower in the lung cancer tissues compared with adjacent non-tumor tissues of patients, and correlates with more advanced stages of cancer, and shorter survival of patients. Interestingly, DBCCR1 attenuates the expression of DNMT1, suggesting a reciprocal regulation between genetic silencing of cancer suppressor genes and activating DNA methylation. (PMID:28427182)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | brinp1 | ENSDARG00000078302 |
| mus_musculus | Brinp1 | ENSMUSG00000028351 |
| rattus_norvegicus | Brinp1 | ENSRNOG00000005561 |
Paralogs (2): BRINP3 (ENSG00000162670), BRINP2 (ENSG00000198797)
Protein
Protein identifiers
BMP/retinoic acid-inducible neural-specific protein 1 — O60477 (reviewed: O60477)
Alternative names: Deleted in bladder cancer protein 1
All UniProt accessions (1): O60477
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in neurogenesis and brain development. May suppress cell cycle progression in postmitotic neurons by inhibiting G1/S transition.
Subcellular location. Cytoplasm.
Tissue specificity. Highly expressed in brain. Weakly expressed in heart, lung, skeletal muscle, kidney, thymus, prostate, testis and small intestine.
Miscellaneous. Silenced by methylation in 50% of bladder cancer cell lines.
Similarity. Belongs to the BRINP family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O60477-1 | 1 | yes |
| O60477-2 | 2 | |
| O60477-3 | 3 |
RefSeq proteins (1): NP_055433* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR020864 | MACPF | Domain |
| IPR033237 | BRINP | Family |
| IPR057450 | BRINP_EGF | Domain |
| IPR057671 | BRINP_C | Domain |
Pfam: PF01823, PF19052, PF25415
UniProt features (17 total): glycosylation site 7, sequence variant 4, splice variant 3, signal peptide 1, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O60477-F1 | 77.88 | 0.22 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (7): 156, 433, 443, 553, 599, 631, 677
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 184 (showing top):
GOBP_MEMORY, GOBP_NEGATIVE_REGULATION_OF_CELL_DEVELOPMENT, GOBP_COGNITION, GOBP_BEHAVIOR, GOBP_CELLULAR_RESPONSE_TO_LIPID, LI_WILMS_TUMOR, GCANCTGNY_MYOD_Q6, GOBP_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, CAGCTG_AP4_Q5, GOBP_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_MULTICELLULAR_ORGANISMAL_RESPONSE_TO_STRESS
GO Biological Process (21): behavioral fear response (GO:0001662), brain development (GO:0007420), short-term memory (GO:0007614), cell population proliferation (GO:0008283), gene expression (GO:0010467), proteasomal protein catabolic process (GO:0010498), central nervous system neuron differentiation (GO:0021953), central nervous system neuron development (GO:0021954), social behavior (GO:0035176), exploration behavior (GO:0035640), maternal behavior (GO:0042711), positive regulation of neuron differentiation (GO:0045666), negative regulation of mitotic cell cycle (GO:0045930), homeostasis of number of cells within a tissue (GO:0048873), negative regulation of neurogenesis (GO:0050768), protein stabilization (GO:0050821), cellular response to retinoic acid (GO:0071300), vocalization behavior (GO:0071625), nervous system development (GO:0007399), neurogenesis (GO:0022008), regulation of cell cycle (GO:0051726)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (5): cytoplasm (GO:0005737), dendrite (GO:0030425), neuronal cell body (GO:0043025), glutamatergic synapse (GO:0098978), synapse (GO:0045202)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| behavior | 3 |
| central nervous system development | 2 |
| neuron differentiation | 2 |
| behavioral defense response | 1 |
| fear response | 1 |
| animal organ development | 1 |
| head development | 1 |
| memory | 1 |
| cellular process | 1 |
| macromolecule biosynthetic process | 1 |
| protein catabolic process | 1 |
| central nervous system neuron differentiation | 1 |
| neuron development | 1 |
| biological process involved in intraspecies interaction between organisms | 1 |
| parental behavior | 1 |
| positive regulation of cell differentiation | 1 |
| regulation of neuron differentiation | 1 |
| mitotic cell cycle | 1 |
| regulation of mitotic cell cycle | 1 |
| negative regulation of cell cycle | 1 |
| tissue homeostasis | 1 |
| homeostasis of number of cells | 1 |
| negative regulation of cell development | 1 |
| neurogenesis | 1 |
| regulation of neurogenesis | 1 |
| negative regulation of nervous system development | 1 |
| regulation of protein stability | 1 |
| response to retinoic acid | 1 |
| cellular response to lipid | 1 |
| cellular response to oxygen-containing compound | 1 |
| system development | 1 |
| nervous system development | 1 |
| cell differentiation | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| neuron projection | 1 |
| dendritic tree | 1 |
| somatodendritic compartment | 1 |
| cell body | 1 |
Protein interactions and networks
STRING
1426 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BRINP1 | SMPDL3A | Q92484 | 975 |
| BRINP1 | PRF1 | P14222 | 730 |
| BRINP1 | ASTN1 | O14525 | 530 |
| BRINP1 | ABCC4 | O15439 | 492 |
| BRINP1 | C2orf80 | Q0P641 | 491 |
| BRINP1 | ASTN2 | O75129 | 476 |
| BRINP1 | FHIP1A | Q05DH4 | 457 |
| BRINP1 | CNEP1R1 | Q8N9A8 | 449 |
| BRINP1 | CCL14 | Q16627 | 435 |
| BRINP1 | ALDH1A1 | P00352 | 429 |
| BRINP1 | GPR26 | Q8NDV2 | 429 |
| BRINP1 | ALOX15 | P16050 | 425 |
| BRINP1 | WAC | Q9BTA9 | 423 |
| BRINP1 | BMPR1B | P78366 | 418 |
| BRINP1 | SMPD1 | P17405 | 411 |
IntAct
13 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZNF326 | BRINP1 | psi-mi:“MI:0914”(association) | 0.580 |
| ZNF326 | BRINP1 | psi-mi:“MI:0915”(physical association) | 0.580 |
| BRINP1 | ZNF326 | psi-mi:“MI:0915”(physical association) | 0.580 |
| BRINP1 | HNRNPA1 | psi-mi:“MI:0914”(association) | 0.460 |
| BRINP1 | SIRT1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| BRINP1 | CCND1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| BRINP1 | RAC1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| BRINP1 | HSPA5 | psi-mi:“MI:0914”(association) | 0.350 |
| HNRNPA1 | NUDT21 | psi-mi:“MI:0914”(association) | 0.350 |
| GPC3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (51): PBXIP1 (Affinity Capture-MS), BRINP1 (Protein-peptide), BRINP1 (Affinity Capture-MS), BRINP1 (Affinity Capture-MS), BRINP1 (Affinity Capture-MS), BRINP1 (Affinity Capture-MS), BRINP1 (Affinity Capture-MS), BRINP1 (Affinity Capture-MS), BRINP1 (Affinity Capture-MS), BRINP1 (Affinity Capture-MS), BRINP1 (Affinity Capture-MS), BRINP1 (Affinity Capture-MS), BRINP1 (Affinity Capture-MS), BRINP1 (Affinity Capture-MS), BRINP1 (Affinity Capture-MS)
ESM2 similar proteins: A0A0F7YYX3, A0A182IRF8, A0A1S4GYH9, A0A1S4GYJ6, A0A1S4HE90, B0X6Z1, B6DDQ8, F5HK49, G5EBL2, G5ECL4, M1JMQ7, O10309, O55183, O60477, P0CJ08, P0DQE5, P18153, P18301, P22815, P34404, P43648, P52823, P54194, P85831, P97574, Q06KA2, Q08264, Q09288, Q0IF93, Q10128, Q11077, Q16S34, Q24738, Q5E9L2, Q5MIW7, Q6P9Z6, Q7PJ76, Q7PN86, Q7PNF2, Q7ZZR3
Diamond homologs: O60477, Q499E0, Q5E9L2, Q5RDR5, Q6DFY8, Q76B58, Q7ZZR3, Q8K1M7, Q8K1M8, Q920P3, Q925T8, Q9C0B6, Q90X85
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
13 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 8 |
| Likely benign | 2 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2047 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:119176732:T:TA | donor_gain | 1.0000 |
| 9:119195652:T:TA | donor_gain | 1.0000 |
| 9:119208714:CTTA:C | donor_loss | 1.0000 |
| 9:119208715:TTA:T | donor_loss | 1.0000 |
| 9:119208716:TA:T | donor_loss | 1.0000 |
| 9:119208717:A:AC | donor_gain | 1.0000 |
| 9:119208718:C:CA | donor_loss | 1.0000 |
| 9:119208718:C:CC | donor_gain | 1.0000 |
| 9:119208718:CCT:C | donor_gain | 1.0000 |
| 9:119208718:CCTCT:C | donor_gain | 1.0000 |
| 9:119208937:CTCAT:C | acceptor_gain | 1.0000 |
| 9:119208939:CAT:C | acceptor_gain | 1.0000 |
| 9:119238650:CCTA:C | donor_loss | 1.0000 |
| 9:119238651:CTAC:C | donor_loss | 1.0000 |
| 9:119238652:TA:T | donor_loss | 1.0000 |
| 9:119238653:ACCT:A | donor_loss | 1.0000 |
| 9:119242041:CTGTA:C | donor_loss | 1.0000 |
| 9:119242042:TGTA:T | donor_loss | 1.0000 |
| 9:119242043:GTAC:G | donor_loss | 1.0000 |
| 9:119242044:TAC:T | donor_loss | 1.0000 |
| 9:119242045:A:C | donor_loss | 1.0000 |
| 9:119242046:C:A | donor_loss | 1.0000 |
| 9:119242212:CTCCC:C | acceptor_gain | 1.0000 |
| 9:119242214:CCC:C | acceptor_gain | 1.0000 |
| 9:119242215:CC:C | acceptor_gain | 1.0000 |
| 9:119242215:CCC:C | acceptor_gain | 1.0000 |
| 9:119242216:CC:C | acceptor_gain | 1.0000 |
| 9:119242216:CCTG:C | acceptor_loss | 1.0000 |
| 9:119242217:C:CC | acceptor_gain | 1.0000 |
| 9:119242217:CT:C | acceptor_loss | 1.0000 |
AlphaMissense
5080 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:119167206:A:G | C722R | 1.000 |
| 9:119167271:C:G | R700P | 1.000 |
| 9:119167394:C:T | G659E | 1.000 |
| 9:119167395:C:A | G659W | 1.000 |
| 9:119167609:C:A | W587C | 1.000 |
| 9:119167609:C:G | W587C | 1.000 |
| 9:119167611:A:G | W587R | 1.000 |
| 9:119167611:A:T | W587R | 1.000 |
| 9:119167645:C:A | W575C | 1.000 |
| 9:119167645:C:G | W575C | 1.000 |
| 9:119167647:A:G | W575R | 1.000 |
| 9:119167647:A:T | W575R | 1.000 |
| 9:119167659:G:C | H571D | 1.000 |
| 9:119167675:G:C | N565K | 1.000 |
| 9:119167675:G:T | N565K | 1.000 |
| 9:119167793:A:G | L526P | 1.000 |
| 9:119167849:G:C | S507R | 1.000 |
| 9:119167849:G:T | S507R | 1.000 |
| 9:119167851:T:G | S507R | 1.000 |
| 9:119167988:C:G | C461S | 1.000 |
| 9:119167989:A:G | C461R | 1.000 |
| 9:119167989:A:T | C461S | 1.000 |
| 9:119168020:G:C | C450W | 1.000 |
| 9:119168021:C:T | C450Y | 1.000 |
| 9:119168022:A:G | C450R | 1.000 |
| 9:119168029:G:C | C447W | 1.000 |
| 9:119168030:C:G | C447S | 1.000 |
| 9:119168030:C:T | C447Y | 1.000 |
| 9:119168031:A:G | C447R | 1.000 |
| 9:119168031:A:T | C447S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000009629 (9:119363277 A>G), RS1000022107 (9:119343870 T>A,C), RS1000024338 (9:119277358 T>A), RS1000041104 (9:119301523 A>C,T), RS1000048569 (9:119292857 A>T), RS1000051869 (9:119346379 T>C), RS1000069647 (9:119168185 G>C), RS1000090088 (9:119209466 G>A,T), RS1000090128 (9:119205858 C>A,T), RS1000117150 (9:119299502 A>G,T), RS1000117474 (9:119289295 T>G), RS1000125546 (9:119261483 C>T), RS1000140849 (9:119308281 C>G), RS1000179184 (9:119178781 C>T), RS1000179769 (9:119326110 A>T)
Disease associations
OMIM: gene MIM:602865 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
15 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002932_25 | Manganese levels | 1.000000e-06 |
| GCST004790_2 | Change in LVEF in response to paclitaxel and trastuzumab in HER2+ breast cancer | 6.000000e-07 |
| GCST006606_12 | Response to TNF inhibitor in rheumatoid arthritis (change in swollen 28-joint count) | 9.000000e-08 |
| GCST007327_32 | Smoking status (ever vs never smokers) | 7.000000e-09 |
| GCST007628_4 | Impulsivity (motor) | 1.000000e-06 |
| GCST008162_2 | Hip circumference | 1.000000e-06 |
| GCST008477_18 | Emphysema annual change measurement in smokers (adjusted lung density) | 7.000000e-06 |
| GCST008477_5 | Emphysema annual change measurement in smokers (adjusted lung density) | 7.000000e-06 |
| GCST008526_71 | Coffee consumption | 5.000000e-06 |
| GCST008647_43 | Urinary sodium excretion | 3.000000e-09 |
| GCST009524_123 | Household income (MTAG) | 3.000000e-08 |
| GCST011741_17 | LDL cholesterol levels in HIV infection | 5.000000e-06 |
| GCST011741_2 | LDL cholesterol levels in HIV infection | 5.000000e-06 |
| GCST011742_56 | Triglyceride levels in HIV infection | 4.000000e-06 |
| GCST012316_4 | ghrelin levels | 7.000000e-08 |
EFO canonical traits (13, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008204 | left ventricular diastolic function measurement |
| EFO:0008347 | response to trastuzumab |
| EFO:0004653 | response to TNF antagonist |
| EFO:0005413 | joint damage measurement |
| EFO:0004318 | smoking behavior |
| EFO:0006946 | behavioural disinhibition measurement |
| EFO:0007626 | emphysema imaging measurement |
| EFO:0006781 | coffee consumption measurement |
| EFO:0009282 | sodium measurement |
| EFO:0009695 | household income |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0600001 | ghrelin measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, affects cotreatment, increases expression | 8 |
| monomethylarsonous acid | affects acetylation, affects methylation, decreases expression | 3 |
| bisphenol A | decreases expression, increases methylation | 2 |
| trichostatin A | affects cotreatment, affects methylation, decreases reaction, increases expression | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Decitabine | decreases reaction, affects expression, affects cotreatment, affects methylation | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| methyleugenol | decreases expression | 1 |
| arsenite | increases methylation | 1 |
| sodium arsenite | decreases reaction, affects acetylation, decreases expression, affects cotreatment, affects methylation | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| incobotulinumtoxinA | increases expression | 1 |
| NSC668394 | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Calcitriol | increases expression | 1 |
| Cisplatin | affects expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases 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.