BRIX1
gene geneOn this page
Also known as BRIXFLJ11100
Summary
BRIX1 (biogenesis of ribosomes BRX1, HGNC:24170) is a protein-coding gene on chromosome 5p13.2, encoding Ribosome biogenesis protein BRX1 homolog (Q8TDN6). Required for biogenesis of the 60S ribosomal subunit. It is a common-essential gene (DepMap: required in 98.8% of cancer cell lines).
Enables RNA binding activity. Predicted to be involved in ribosomal large subunit assembly. Located in chromosome and nucleolus.
Source: NCBI Gene 55299 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 70 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 98.8% of screened cell lines (common-essential)
- MANE Select transcript:
NM_018321
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24170 |
| Approved symbol | BRIX1 |
| Name | biogenesis of ribosomes BRX1 |
| Location | 5p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | BRIX, FLJ11100 |
| Ensembl gene | ENSG00000113460 |
| Ensembl biotype | protein_coding |
| OMIM | 618466 |
| Entrez | 55299 |
Gene structure
Transcript identifiers
Ensembl transcripts: 14 — 10 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000336767, ENST00000506023, ENST00000510834, ENST00000510960, ENST00000515798, ENST00000938601, ENST00000938602, ENST00000938603, ENST00000938604, ENST00000938605, ENST00000938606, ENST00000938607, ENST00000938608, ENST00000970234
RefSeq mRNA: 1 — MANE Select: NM_018321
NM_018321
CCDS: CCDS34143
Canonical transcript exons
ENST00000336767 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001356736 | 34925226 | 34925996 |
| ENSE00002081894 | 34915711 | 34915897 |
| ENSE00003476270 | 34922695 | 34922768 |
| ENSE00003536705 | 34924847 | 34924975 |
| ENSE00003539978 | 34918364 | 34918475 |
| ENSE00003551289 | 34919840 | 34919883 |
| ENSE00003566933 | 34922217 | 34922287 |
| ENSE00003581596 | 34922539 | 34922588 |
| ENSE00003639570 | 34923133 | 34923234 |
| ENSE00003656598 | 34923001 | 34923051 |
Expression profiles
Bgee: expression breadth ubiquitous, 195 present calls, max score 92.15.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.7209 / max 237.8671, expressed in 1803 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 56086 | 24.1598 | 1791 |
| 56084 | 1.9637 | 647 |
| 56085 | 1.4731 | 769 |
| 56083 | 0.1243 | 52 |
Top tissues by expression
262 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 92.15 | gold quality |
| ventricular zone | UBERON:0003053 | 90.10 | gold quality |
| ganglionic eminence | UBERON:0004023 | 90.04 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 89.68 | gold quality |
| islet of Langerhans | UBERON:0000006 | 89.59 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 89.57 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.37 | gold quality |
| cortical plate | UBERON:0005343 | 88.81 | gold quality |
| adrenal tissue | UBERON:0018303 | 88.71 | gold quality |
| rectum | UBERON:0001052 | 88.68 | gold quality |
| left uterine tube | UBERON:0001303 | 88.02 | gold quality |
| esophagus mucosa | UBERON:0002469 | 87.67 | gold quality |
| omental fat pad | UBERON:0010414 | 87.66 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 87.61 | gold quality |
| peritoneum | UBERON:0002358 | 87.59 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 87.55 | gold quality |
| left adrenal gland | UBERON:0001234 | 87.43 | gold quality |
| ectocervix | UBERON:0012249 | 87.27 | gold quality |
| left ovary | UBERON:0002119 | 87.15 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 87.14 | gold quality |
| body of uterus | UBERON:0009853 | 87.08 | gold quality |
| popliteal artery | UBERON:0002250 | 87.07 | gold quality |
| tibial artery | UBERON:0007610 | 87.07 | gold quality |
| buccal mucosa cell | CL:0002336 | 87.01 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 87.00 | gold quality |
| right adrenal gland | UBERON:0001233 | 86.80 | gold quality |
| left coronary artery | UBERON:0001626 | 86.77 | gold quality |
| esophagus | UBERON:0001043 | 86.70 | gold quality |
| endocervix | UBERON:0000458 | 86.61 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 86.55 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7249 | no | 481.88 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
48 targeting BRIX1, 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-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
| HSA-MIR-548J-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548O-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548W | 99.94 | 71.24 | 3488 |
| HSA-MIR-548Y | 99.94 | 71.28 | 3514 |
| HSA-MIR-7978 | 99.86 | 66.90 | 856 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-4420 | 99.82 | 70.08 | 1624 |
| HSA-MIR-181B-2-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-181B-3P | 99.81 | 70.06 | 1646 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 98.8% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 1)
- BRIX1 promotes ribosome synthesis and enhances glycolysis by selected translation of GLUT1 in colorectal cancer. (PMID:38282151)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | bxdc2 | ENSDARG00000098935 |
| mus_musculus | Brix1 | ENSMUSG00000022247 |
| rattus_norvegicus | Brix1 | ENSRNOG00000018021 |
| drosophila_melanogaster | CG11583 | FBGN0035524 |
| caenorhabditis_elegans | WBGENE00019678 |
Protein
Protein identifiers
Ribosome biogenesis protein BRX1 homolog — Q8TDN6 (reviewed: Q8TDN6)
Alternative names: Brix domain-containing protein 2
All UniProt accessions (1): Q8TDN6
UniProt curated annotations — full annotation on UniProt →
Function. Required for biogenesis of the 60S ribosomal subunit.
Subcellular location. Nucleus. Nucleolus.
Similarity. Belongs to the BRX1 family.
RefSeq proteins (1): NP_060791* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007109 | Brix | Domain |
| IPR026532 | BRX1 | Family |
Pfam: PF04427
UniProt features (13 total): sequence conflict 3, cross-link 3, compositionally biased region 2, modified residue 2, chain 1, domain 1, region of interest 1
Structure
Experimental structures (PDB)
10 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8FKV | ELECTRON MICROSCOPY | 2.47 |
| 8FKW | ELECTRON MICROSCOPY | 2.5 |
| 8FKX | ELECTRON MICROSCOPY | 2.59 |
| 8FKY | ELECTRON MICROSCOPY | 2.67 |
| 8FKQ | ELECTRON MICROSCOPY | 2.76 |
| 8FKT | ELECTRON MICROSCOPY | 2.81 |
| 8FKU | ELECTRON MICROSCOPY | 2.82 |
| 8FKP | ELECTRON MICROSCOPY | 2.85 |
| 8FKS | ELECTRON MICROSCOPY | 2.88 |
| 8FKR | ELECTRON MICROSCOPY | 2.89 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TDN6-F1 | 81.68 | 0.53 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (5): 261, 276, 160, 314, 322
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 147 (showing top):
GOBP_RIBOSOME_BIOGENESIS, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_RIBOSOME_ASSEMBLY, WEI_MYCN_TARGETS_WITH_E_BOX, MUELLER_PLURINET, GOBP_RIBOSOMAL_LARGE_SUBUNIT_ASSEMBLY, WCTCNATGGY_UNKNOWN, MODULE_206, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, DODD_NASOPHARYNGEAL_CARCINOMA_UP, FISCHER_DREAM_TARGETS
GO Biological Process (3): ribosomal large subunit assembly (GO:0000027), rRNA processing (GO:0006364), ribosome biogenesis (GO:0042254)
GO Molecular Function (3): RNA binding (GO:0003723), rRNA binding (GO:0019843), protein binding (GO:0005515)
GO Cellular Component (3): chromosome (GO:0005694), nucleolus (GO:0005730), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular membraneless organelle | 2 |
| protein-RNA complex assembly | 1 |
| ribosome assembly | 1 |
| ribosomal large subunit biogenesis | 1 |
| RNA processing | 1 |
| rRNA metabolic process | 1 |
| ribosome biogenesis | 1 |
| ribonucleoprotein complex biogenesis | 1 |
| nucleic acid binding | 1 |
| RNA binding | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
3236 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BRIX1 | WDR12 | Q9GZL7 | 720 |
| BRIX1 | DDX18 | Q9NVP1 | 661 |
| BRIX1 | ABT1 | Q9ULW3 | 621 |
| BRIX1 | NIP7 | Q9Y221 | 611 |
| BRIX1 | RPF1 | Q9H9Y2 | 575 |
| BRIX1 | BMS1 | Q14692 | 563 |
| BRIX1 | PDCD11 | Q14690 | 554 |
| BRIX1 | RPF2 | Q9H7B2 | 543 |
| BRIX1 | NIFK | Q9BYG3 | 540 |
| BRIX1 | LYAR | Q9NX58 | 501 |
| BRIX1 | RRP1B | Q14684 | 498 |
| BRIX1 | PWP1 | Q13610 | 491 |
| BRIX1 | DHX32 | Q7L7V1 | 483 |
| BRIX1 | RRP1 | P56182 | 482 |
| BRIX1 | BOP1 | Q14137 | 479 |
IntAct
258 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MED4 | MED19 | psi-mi:“MI:0914”(association) | 0.900 |
| BRIX1 | EBNA1BP2 | psi-mi:“MI:0915”(physical association) | 0.810 |
| EBNA1BP2 | BRIX1 | psi-mi:“MI:0915”(physical association) | 0.810 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| NOP53 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | NVL | psi-mi:“MI:0914”(association) | 0.610 |
| BRIX1 | HNRNPU | psi-mi:“MI:0915”(physical association) | 0.560 |
| BRIX1 | RPL13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPS6 | IPO7 | psi-mi:“MI:0914”(association) | 0.530 |
| MECP2 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| MAGEB10 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| H1-6 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| RBM34 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RRP8 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| H1-4 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| ILF2 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL37A | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18 | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| MACROH2A2 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
| PRR11 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| MAK16 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| RPL30 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18A | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| PUM3 | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| PDGFB | DKC1 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (421): BRIX1 (Affinity Capture-MS), BRIX1 (Affinity Capture-MS), BRIX1 (Affinity Capture-MS), BRIX1 (Affinity Capture-MS), BRIX1 (Affinity Capture-MS), BRIX1 (Affinity Capture-MS), BRIX1 (Affinity Capture-MS), BRIX1 (Affinity Capture-MS), BRIX1 (Affinity Capture-MS), BRIX1 (Affinity Capture-MS), BRIX1 (Affinity Capture-MS), BRIX1 (Affinity Capture-MS), BRIX1 (Affinity Capture-MS), BRIX1 (Affinity Capture-MS), BRIX1 (Co-fractionation)
ESM2 similar proteins: A0A1D8PF11, G1STW0, O13019, O13672, O57592, O76732, P0DJ14, P0DKK7, P12970, P15125, P15126, P17076, P29453, P32429, P35685, P46223, P49196, P49692, P62424, P62425, P80455, Q02892, Q29375, Q2TBQ5, Q3SZZ0, Q4QQT6, Q4R5C2, Q54PX9, Q54ZD1, Q5ADQ6, Q5ANA1, Q5I7K9, Q5RAN2, Q6FRV0, Q74ZK6, Q8SSG1, Q8TDN6, Q8UVY2, Q90YW2, Q966C6
Diamond homologs: P34524, Q08235, Q3SZZ0, Q4QQT6, Q54JN0, Q5RAN2, Q8TDN6, Q8UVY2, Q9C928, Q9DCA5, Q9HGL6, Q9LE16, Q9VZE6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 207 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 |
|---|---|---|---|
| ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA | 25 | 22.3× | 4e-25 |
| Peptide chain elongation | 23 | 22.1× | 4e-23 |
| Viral mRNA Translation | 23 | 22.1× | 4e-23 |
| PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA | 23 | 21.9× | 4e-23 |
| Selenocysteine synthesis | 23 | 20.9× | 1e-22 |
| Eukaryotic Translation Termination | 23 | 20.9× | 1e-22 |
| Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) | 23 | 20.5× | 1e-22 |
| SRP-dependent cotranslational protein targeting to membrane | 27 | 20.5× | 5e-26 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of DNA recombination | 5 | 30.7× | 5e-05 |
| cytoplasmic translation | 25 | 25.3× | 1e-25 |
| chromosome condensation | 5 | 23.0× | 2e-04 |
| negative regulation of mRNA splicing, via spliceosome | 5 | 20.9× | 3e-04 |
| ribosomal large subunit biogenesis | 8 | 19.4× | 2e-06 |
| rRNA processing | 18 | 13.9× | 3e-13 |
| translation | 23 | 12.9× | 2e-16 |
| ribosomal small subunit biogenesis | 10 | 12.4× | 2e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
70 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 52 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
797 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 5:34915898:GTAG:G | donor_loss | 1.0000 |
| 5:34918442:GACT:G | donor_gain | 1.0000 |
| 5:34919838:A:AG | acceptor_gain | 1.0000 |
| 5:34919839:G:GG | acceptor_gain | 1.0000 |
| 5:34919894:A:T | donor_gain | 1.0000 |
| 5:34922213:TTAG:T | acceptor_loss | 1.0000 |
| 5:34922215:A:T | acceptor_loss | 1.0000 |
| 5:34922216:G:A | acceptor_loss | 1.0000 |
| 5:34922216:GGTTT:G | acceptor_gain | 1.0000 |
| 5:34922260:C:G | donor_gain | 1.0000 |
| 5:34922285:GTG:G | donor_gain | 1.0000 |
| 5:34922285:GTGGT:G | donor_loss | 1.0000 |
| 5:34922286:TGGTA:T | donor_loss | 1.0000 |
| 5:34922288:G:GG | donor_gain | 1.0000 |
| 5:34922288:GT:G | donor_loss | 1.0000 |
| 5:34922289:T:A | donor_loss | 1.0000 |
| 5:34922589:G:GG | donor_gain | 1.0000 |
| 5:34922684:A:AG | acceptor_gain | 1.0000 |
| 5:34922693:A:AG | acceptor_gain | 1.0000 |
| 5:34922694:G:GT | acceptor_gain | 1.0000 |
| 5:34922694:GTT:G | acceptor_gain | 1.0000 |
| 5:34922694:GTTC:G | acceptor_gain | 1.0000 |
| 5:34922694:GTTCA:G | acceptor_gain | 1.0000 |
| 5:34922764:ACCCT:A | donor_gain | 1.0000 |
| 5:34922765:CCCT:C | donor_gain | 1.0000 |
| 5:34922766:CCT:C | donor_gain | 1.0000 |
| 5:34922767:CT:C | donor_gain | 1.0000 |
| 5:34922767:CTGTA:C | donor_loss | 1.0000 |
| 5:34922768:TGTA:T | donor_loss | 1.0000 |
| 5:34922769:G:GG | donor_gain | 1.0000 |
AlphaMissense
2356 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 5:34919847:A:C | K93N | 1.000 |
| 5:34919847:A:T | K93N | 1.000 |
| 5:34922286:T:A | W129R | 1.000 |
| 5:34922286:T:C | W129R | 1.000 |
| 5:34922725:G:A | G156E | 1.000 |
| 5:34923172:T:C | F201L | 1.000 |
| 5:34923174:T:A | F201L | 1.000 |
| 5:34923174:T:G | F201L | 1.000 |
| 5:34923224:G:C | R218P | 1.000 |
| 5:34924881:G:A | G233E | 1.000 |
| 5:34918392:T:C | L63P | 0.999 |
| 5:34918407:G:T | R68I | 0.999 |
| 5:34918428:G:C | R75T | 0.999 |
| 5:34918429:A:C | R75S | 0.999 |
| 5:34918429:A:T | R75S | 0.999 |
| 5:34918430:C:G | H76D | 0.999 |
| 5:34919845:A:G | K93E | 0.999 |
| 5:34919846:A:T | K93I | 0.999 |
| 5:34922221:G:A | C107Y | 0.999 |
| 5:34922222:T:G | C107W | 0.999 |
| 5:34922237:T:G | C112W | 0.999 |
| 5:34922244:T:C | C115R | 0.999 |
| 5:34922558:G:A | G136R | 0.999 |
| 5:34922558:G:C | G136R | 0.999 |
| 5:34922559:G:A | G136E | 0.999 |
| 5:34922568:C:A | A139D | 0.999 |
| 5:34922580:T:A | V143D | 0.999 |
| 5:34922713:T:C | L152P | 0.999 |
| 5:34922729:C:A | N157K | 0.999 |
| 5:34922729:C:G | N157K | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000154959 (5:34916318 G>A,C), RS1000450483 (5:34916667 A>C,T), RS1000994229 (5:34921861 C>G,T), RS1001205374 (5:34920461 C>T), RS1001336712 (5:34922155 A>G), RS1001426201 (5:34920830 TG>T), RS1001577269 (5:34916337 G>A), RS1001629751 (5:34916128 G>A), RS1001808508 (5:34914542 C>A,T), RS1002583428 (5:34915257 C>A,T), RS1002635613 (5:34915057 A>C,T), RS1002827133 (5:34921632 G>A), RS1003096879 (5:34919301 G>A,C,T), RS1003431751 (5:34917470 A>G), RS1003621702 (5:34917228 T>A)
Disease associations
OMIM: gene MIM:618466 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009391_1913 | Metabolite levels | 1.000000e-20 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010464 | beta-aminoisobutyric acid measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066494 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 5.86 | Kd | 1383 | nM | CHEMBL5653589 |
| 5.86 | ED50 | 1383 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2147958: Binding affinity to human BRIX1 incubated for 45 mins by Kinobead based pull down assay | kd | 1.3829 | uM |
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, affects cotreatment, increases expression | 4 |
| trichostatin A | affects expression, decreases reaction | 2 |
| (+)-JQ1 compound | decreases expression | 2 |
| Estradiol | affects expression, increases expression | 2 |
| Aflatoxin B1 | decreases expression, increases expression, affects cotreatment | 2 |
| afuresertib | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenite | decreases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| Atrazine | increases expression | 1 |
| Calcitriol | decreases expression, affects cotreatment | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Enzyme Inhibitors | increases O-linked glycosylation, decreases activity | 1 |
| Fluorouracil | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Nickel | affects expression, decreases reaction | 1 |
| Progesterone | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | increases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651000 | Binding | Binding affinity to human BRIX1 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
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.