FBRSL1
geneOn this page
Also known as KIAA1545
Summary
FBRSL1 (fibrosin like 1, HGNC:29308) is a protein-coding gene on chromosome 12q24.33, encoding Fibrosin-1-like protein (Q9HCM7).
Enables RNA binding activity.
Source: NCBI Gene 57666 — RefSeq curated summary.
At a glance
- Gene–disease (curated): syndromic disease (Strong, GenCC) — +2 more curated relationships
- GWAS associations: 22
- Clinical variants (ClinVar): 417 total — 1 pathogenic, 1 likely-pathogenic
- MANE Select transcript:
NM_001367871
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29308 |
| Approved symbol | FBRSL1 |
| Name | fibrosin like 1 |
| Location | 12q24.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1545 |
| Ensembl gene | ENSG00000112787 |
| Ensembl biotype | protein_coding |
| OMIM | 620123 |
| Entrez | 57666 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 21 protein_coding, 4 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000434748, ENST00000537804, ENST00000539264, ENST00000542061, ENST00000542306, ENST00000543360, ENST00000543453, ENST00000650108, ENST00000680143, ENST00000938321, ENST00000938322, ENST00000938323, ENST00000938324, ENST00000938325, ENST00000938326, ENST00000938327, ENST00000955040, ENST00000955041, ENST00000955042, ENST00000955043, ENST00000955044, ENST00000955045, ENST00000955046, ENST00000955047, ENST00000955048, ENST00000955049
RefSeq mRNA: 6 — MANE Select: NM_001367871
NM_001142641, NM_001367871, NM_001382739, NM_001382740, NM_001382741, NM_001382742
CCDS: CCDS45010, CCDS91782, CCDS91783
Canonical transcript exons
ENST00000680143 — 19 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000759745 | 132582062 | 132582266 |
| ENSE00000798053 | 132570335 | 132570540 |
| ENSE00001683027 | 132548003 | 132548032 |
| ENSE00001705919 | 132569926 | 132570241 |
| ENSE00001707018 | 132525734 | 132525823 |
| ENSE00001710027 | 132582971 | 132585188 |
| ENSE00001781255 | 132508153 | 132508350 |
| ENSE00001788931 | 132527953 | 132527988 |
| ENSE00002210068 | 132574090 | 132574158 |
| ENSE00003458280 | 132576799 | 132576931 |
| ENSE00003479296 | 132581741 | 132581824 |
| ENSE00003488918 | 132572527 | 132572622 |
| ENSE00003567068 | 132581439 | 132581516 |
| ENSE00003644199 | 132572288 | 132572344 |
| ENSE00003663950 | 132567481 | 132567526 |
| ENSE00003833061 | 132574493 | 132574564 |
| ENSE00003833796 | 132574319 | 132574348 |
| ENSE00003910871 | 132571068 | 132571231 |
| ENSE00003913221 | 132490151 | 132490861 |
Expression profiles
Bgee: expression breadth ubiquitous, 248 present calls, max score 98.80.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 44.1191 / max 464.9567, expressed in 1817 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 128816 | 28.5272 | 1809 |
| 128820 | 10.3397 | 1334 |
| 128821 | 3.2023 | 993 |
| 128822 | 1.4953 | 741 |
| 128815 | 0.2401 | 103 |
| 128818 | 0.1367 | 58 |
| 128823 | 0.0835 | 12 |
| 128817 | 0.0557 | 15 |
| 128819 | 0.0386 | 7 |
Top tissues by expression
253 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pancreatic ductal cell | CL:0002079 | 98.80 | gold quality |
| oviduct epithelium | UBERON:0004804 | 98.33 | gold quality |
| cortical plate | UBERON:0005343 | 97.07 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 96.94 | gold quality |
| cerebellar cortex | UBERON:0002129 | 96.37 | gold quality |
| body of pancreas | UBERON:0001150 | 96.35 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 96.35 | gold quality |
| apex of heart | UBERON:0002098 | 96.19 | gold quality |
| cerebellum | UBERON:0002037 | 95.89 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 95.88 | gold quality |
| adenohypophysis | UBERON:0002196 | 95.86 | gold quality |
| right uterine tube | UBERON:0001302 | 95.81 | gold quality |
| granulocyte | CL:0000094 | 95.65 | gold quality |
| sural nerve | UBERON:0015488 | 95.54 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 95.21 | gold quality |
| pituitary gland | UBERON:0000007 | 94.90 | gold quality |
| body of stomach | UBERON:0001161 | 94.90 | gold quality |
| metanephros cortex | UBERON:0010533 | 94.83 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 94.73 | gold quality |
| lower esophagus | UBERON:0013473 | 94.71 | gold quality |
| right ovary | UBERON:0002118 | 94.57 | gold quality |
| gastrocnemius | UBERON:0001388 | 94.56 | gold quality |
| left uterine tube | UBERON:0001303 | 94.51 | gold quality |
| right testis | UBERON:0004534 | 94.48 | gold quality |
| left testis | UBERON:0004533 | 94.47 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 94.45 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 94.29 | gold quality |
| body of uterus | UBERON:0009853 | 94.28 | gold quality |
| left ovary | UBERON:0002119 | 94.25 | gold quality |
| transverse colon | UBERON:0001157 | 94.22 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.71 |
| E-ENAD-17 | no | 3.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
77 targeting FBRSL1, 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-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-3681-3P | 99.88 | 70.46 | 2254 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-659-3P | 99.85 | 70.69 | 1620 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-544A | 99.84 | 68.66 | 1965 |
| HSA-MIR-6715A-3P | 99.83 | 68.05 | 1473 |
| HSA-MIR-5010-3P | 99.83 | 70.60 | 2357 |
| HSA-MIR-636 | 99.80 | 69.58 | 1500 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
Literature-anchored findings (GeneRIF, showing 2)
- Association analysis and polygenic risk score evaluation of 38 GWAS-identified Loci in a Chinese population with Parkinson’s disease. (PMID:34352340)
- Fbrsl1 is required for heart development in Xenopus laevis and de novo variants in FBRSL1 can cause human heart defects. (PMID:38501224)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fbrsl1 | ENSDARG00000058232 |
| mus_musculus | Fbrsl1 | ENSMUSG00000043323 |
| rattus_norvegicus | Fbrsl1 | ENSRNOG00000030721 |
Paralogs (2): FBRS (ENSG00000156860), AUTS2 (ENSG00000158321)
Protein
Protein identifiers
Fibrosin-1-like protein — Q9HCM7 (reviewed: Q9HCM7)
Alternative names: AUTS2-like protein, HBV X-transactivated gene 9 protein, HBV XAg-transactivated protein 9
All UniProt accessions (4): A0A1B0GUN3, A0A3B3IRR3, A0A7P0Z485, Q9HCM7
UniProt curated annotations — full annotation on UniProt →
Similarity. Belongs to the AUTS2 family.
RefSeq proteins (6): NP_001136113, NP_001354800, NP_001369668, NP_001369669, NP_001369670, NP_001369671 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR023246 | AUTS2 | Family |
Pfam: PF15336
UniProt features (30 total): compositionally biased region 13, region of interest 7, modified residue 6, chain 1, cross-link 1, sequence variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HCM7-F1 | 46.19 | 0.00 |
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 (7): 340, 790, 937, 977, 989, 1010, 858
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 0 (showing top):
GO Biological Process (0):
GO Molecular Function (1): RNA binding (GO:0003723)
GO Cellular Component (0):
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nucleic acid binding | 1 |
Protein interactions and networks
STRING
916 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FBRSL1 | PCGF5 | Q86SE9 | 610 |
| FBRSL1 | PCGF3 | Q3KNV8 | 573 |
| FBRSL1 | OR4N5 | Q8IXE1 | 492 |
| FBRSL1 | BTBD17 | A6NE02 | 410 |
| FBRSL1 | DNAAF8 | Q8IYS4 | 370 |
| FBRSL1 | MTHFSD | Q2M296 | 364 |
| FBRSL1 | FAM184B | Q9ULE4 | 363 |
| FBRSL1 | MTX3 | Q5HYI7 | 357 |
| FBRSL1 | SPATC1L | Q9H0A9 | 352 |
| FBRSL1 | POMZP3 | Q6PJE2 | 350 |
| FBRSL1 | HDGFL2 | Q7Z4V5 | 344 |
| FBRSL1 | YAF2 | Q8IY57 | 334 |
| FBRSL1 | OC90 | Q02509 | 329 |
| FBRSL1 | LRRC75A | Q8NAA5 | 329 |
| FBRSL1 | OR5A2 | Q8NGI9 | 324 |
IntAct
62 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RYBP | BMI1 | psi-mi:“MI:0914”(association) | 0.850 |
| CSNK2A1 | EIF3J | psi-mi:“MI:0914”(association) | 0.810 |
| CSNK2A2 | EIF3J | psi-mi:“MI:0914”(association) | 0.790 |
| RYBP | E2F6 | psi-mi:“MI:0914”(association) | 0.740 |
| DCAF7 | DIAPH1 | psi-mi:“MI:0914”(association) | 0.730 |
| RING1 | CBX4 | psi-mi:“MI:0914”(association) | 0.730 |
| NFIC | NFIB | psi-mi:“MI:2364”(proximity) | 0.690 |
| CSNK2B | NMT2 | psi-mi:“MI:0914”(association) | 0.660 |
| RNF2 | CBX4 | psi-mi:“MI:0914”(association) | 0.660 |
| YAF2 | E2F6 | psi-mi:“MI:0914”(association) | 0.640 |
| CSNK2B | RPS6KA4 | psi-mi:“MI:0914”(association) | 0.640 |
| CSNK2A2 | PES1 | psi-mi:“MI:0914”(association) | 0.640 |
| CSNK2A1 | SURF6 | psi-mi:“MI:0914”(association) | 0.590 |
| DCAF7 | PFDN6 | psi-mi:“MI:2364”(proximity) | 0.570 |
| DCAF7 | PFDN6 | psi-mi:“MI:0914”(association) | 0.570 |
| FANCD2OS | CNOT1 | psi-mi:“MI:0914”(association) | 0.530 |
| Xpo1 | IFT56 | psi-mi:“MI:0914”(association) | 0.350 |
| DCAF7 | DIAPH1 | psi-mi:“MI:0914”(association) | 0.350 |
| CSNK2A1 | EIF3F | psi-mi:“MI:0914”(association) | 0.350 |
| DCAF7 | SOWAHB | psi-mi:“MI:0914”(association) | 0.350 |
| RYBP | MGAM | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (90): FBRSL1 (Affinity Capture-MS), FBRSL1 (Affinity Capture-MS), FBRSL1 (Affinity Capture-MS), FBRSL1 (Affinity Capture-MS), FBRSL1 (Affinity Capture-MS), FBRSL1 (Affinity Capture-MS), FBRSL1 (Affinity Capture-MS), FBRSL1 (Affinity Capture-MS), FBRSL1 (Affinity Capture-RNA), FBRSL1 (Affinity Capture-RNA), FBRSL1 (Affinity Capture-MS), FBRSL1 (Affinity Capture-MS), FBRSL1 (Affinity Capture-MS), FBRSL1 (Affinity Capture-MS), FBRSL1 (Affinity Capture-MS)
ESM2 similar proteins: A0A087WPF7, A0A0R4IBL7, O09000, O54972, O70305, O75081, O75376, P15806, P15881, P15884, P15923, P21677, P30985, P51514, P98180, Q05AQ8, Q14157, Q14687, Q1LY51, Q2VPM4, Q3U3C9, Q4KKX4, Q4VCS5, Q566L4, Q5F3B1, Q5SFM8, Q5T6F2, Q60722, Q60974, Q61286, Q62655, Q6DIH5, Q7ZWN6, Q7ZXS3, Q80X50, Q86YP4, Q8BZ47, Q8CHY6, Q8IXK0, Q8VHG2
Diamond homologs: A0A087WPF7, Q8R089, Q8WXX7, Q9HAH7, Q9HCM7
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 68 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 |
|---|---|---|---|
| RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known | 10 | 65.3× | 3e-14 |
| Transcriptional Regulation by E2F6 | 7 | 44.6× | 1e-08 |
| SUMOylation of transcription cofactors | 5 | 26.4× | 4e-05 |
| Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells) | 5 | 15.9× | 3e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of proteasomal ubiquitin-dependent protein catabolic process | 5 | 30.4× | 5e-05 |
| inner ear morphogenesis | 5 | 22.8× | 2e-04 |
| anatomical structure morphogenesis | 7 | 14.8× | 5e-05 |
| chromatin remodeling | 9 | 9.9× | 4e-05 |
| transcription by RNA polymerase II | 8 | 8.6× | 2e-04 |
| gene expression | 6 | 7.3× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
417 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 1 |
| Uncertain significance | 304 |
| Likely benign | 61 |
| Benign | 7 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2684684 | GRCh37/hg19 12q24.31-24.33(chr12:120880079-133777902)x3 | Pathogenic |
| 982214 | NM_001367871.1(FBRSL1):c.1522C>G (p.Gln508Glu) | Likely pathogenic |
SpliceAI
4632 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:132508148:T:TA | acceptor_gain | 1.0000 |
| 12:132508151:A:AG | acceptor_gain | 1.0000 |
| 12:132508151:AGAAG:A | acceptor_gain | 1.0000 |
| 12:132508152:G:GT | acceptor_gain | 1.0000 |
| 12:132508152:GA:G | acceptor_gain | 1.0000 |
| 12:132508152:GAA:G | acceptor_gain | 1.0000 |
| 12:132508152:GAAGG:G | acceptor_gain | 1.0000 |
| 12:132508347:GCAG:G | donor_gain | 1.0000 |
| 12:132508348:CAG:C | donor_loss | 1.0000 |
| 12:132508349:AG:A | donor_loss | 1.0000 |
| 12:132508350:GG:G | donor_loss | 1.0000 |
| 12:132508352:T:G | donor_loss | 1.0000 |
| 12:132525732:A:AG | acceptor_gain | 1.0000 |
| 12:132525732:AGAT:A | acceptor_gain | 1.0000 |
| 12:132525733:G:GA | acceptor_gain | 1.0000 |
| 12:132525733:GAT:G | acceptor_gain | 1.0000 |
| 12:132525733:GATG:G | acceptor_gain | 1.0000 |
| 12:132525733:GATGA:G | acceptor_gain | 1.0000 |
| 12:132525819:GCGAT:G | donor_gain | 1.0000 |
| 12:132525820:CGAT:C | donor_gain | 1.0000 |
| 12:132525821:GAT:G | donor_gain | 1.0000 |
| 12:132525821:GATG:G | donor_gain | 1.0000 |
| 12:132525822:AT:A | donor_gain | 1.0000 |
| 12:132525823:TGT:T | donor_loss | 1.0000 |
| 12:132525824:G:GG | donor_gain | 1.0000 |
| 12:132525824:GTGA:G | donor_loss | 1.0000 |
| 12:132525825:T:G | donor_loss | 1.0000 |
| 12:132527989:G:GG | donor_gain | 1.0000 |
| 12:132548001:A:AG | acceptor_gain | 1.0000 |
| 12:132548002:G:GG | acceptor_gain | 1.0000 |
AlphaMissense
6381 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:132490824:T:C | F85S | 1.000 |
| 12:132490823:T:C | F85L | 0.999 |
| 12:132490825:C:A | F85L | 0.999 |
| 12:132490825:C:G | F85L | 0.999 |
| 12:132490815:T:A | I82N | 0.998 |
| 12:132490830:T:A | I87N | 0.998 |
| 12:132490838:T:C | F90L | 0.998 |
| 12:132490840:C:A | F90L | 0.998 |
| 12:132490840:C:G | F90L | 0.998 |
| 12:132490853:G:C | A95P | 0.998 |
| 12:132490818:A:T | D83V | 0.997 |
| 12:132490824:T:G | F85C | 0.997 |
| 12:132490857:T:C | L96P | 0.997 |
| 12:132572611:T:C | F525L | 0.997 |
| 12:132572613:T:A | F525L | 0.997 |
| 12:132572613:T:G | F525L | 0.997 |
| 12:132490815:T:G | I82S | 0.996 |
| 12:132490835:A:C | S89R | 0.996 |
| 12:132490837:C:A | S89R | 0.996 |
| 12:132490837:C:G | S89R | 0.996 |
| 12:132490839:T:C | F90S | 0.996 |
| 12:132574505:T:A | W591R | 0.996 |
| 12:132574505:T:C | W591R | 0.996 |
| 12:132574510:T:G | C592W | 0.996 |
| 12:132574507:G:C | W591C | 0.995 |
| 12:132574507:G:T | W591C | 0.995 |
| 12:132490821:G:A | G84D | 0.994 |
| 12:132490827:C:A | A86D | 0.994 |
| 12:132572612:T:C | F525S | 0.994 |
| 12:132572612:T:G | F525C | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000001599 (12:132495415 T>C), RS1000017391 (12:132558163 C>T), RS1000023145 (12:132528799 C>T), RS1000039147 (12:132564708 G>A,C), RS1000042865 (12:132585418 C>T), RS1000089057 (12:132557978 G>A), RS1000158483 (12:132527236 G>A,T), RS1000173350 (12:132541245 A>G), RS1000210856 (12:132539171 T>C), RS1000212664 (12:132533332 C>A,T), RS1000218393 (12:132562343 A>C), RS1000242230 (12:132533576 C>T), RS1000254489 (12:132510696 G>A,C), RS1000288568 (12:132514568 C>T), RS1000294313 (12:132553089 C>G)
Disease associations
OMIM: gene MIM:620123 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| syndromic disease | Strong | Autosomal dominant |
| complex neurodevelopmental disorder | Moderate | Autosomal dominant |
| syndromic complex neurodevelopmental disorder | Moderate | Autosomal dominant |
Mondo (3): syndromic disease (MONDO:0002254), complex neurodevelopmental disorder (MONDO:0100038), syndromic complex neurodevelopmental disorder (MONDO:0800439)
Orphanet (1): Moyamoya angiopathy (Orphanet:477768)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
22 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004601_168 | Red blood cell count | 6.000000e-14 |
| GCST005951_3 | Body mass index | 6.000000e-09 |
| GCST006085_58 | Prostate cancer | 1.000000e-09 |
| GCST006089_11 | Prostate cancer (early onset) | 6.000000e-08 |
| GCST006414_16 | Atrial fibrillation | 1.000000e-08 |
| GCST006628_35 | Systolic blood pressure | 3.000000e-10 |
| GCST007545_2 | Coronary artery disease and triglyceride levels (multivariate analysis) | 1.000000e-08 |
| GCST008839_158 | Height | 2.000000e-09 |
| GCST008971_3 | Urate levels | 2.000000e-13 |
| GCST008972_80 | Urate levels | 1.000000e-14 |
| GCST009325_12 | Parkinson’s disease or first degree relation to individual with Parkinson’s disease | 2.000000e-10 |
| GCST009379_354 | Type 2 diabetes | 2.000000e-12 |
| GCST009870_11 | Calcific aortic valve stenosis | 2.000000e-06 |
| GCST010204_163 | Low density lipoprotein cholesterol levels | 5.000000e-09 |
| GCST010241_390 | Apolipoprotein A1 levels | 8.000000e-10 |
| GCST011956_141 | Systemic lupus erythematosus | 6.000000e-09 |
| GCST012490_190 | Femur bone mineral density x serum urate levels interaction | 4.000000e-08 |
| GCST012490_557 | Femur bone mineral density x serum urate levels interaction | 8.000000e-12 |
| GCST90002383_19 | Hematocrit | 1.000000e-13 |
| GCST90002384_322 | Hemoglobin | 4.000000e-15 |
| GCST90002392_402 | Mean corpuscular volume | 7.000000e-11 |
| GCST90002403_466 | Red blood cell count | 3.000000e-24 |
EFO canonical traits (10, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004305 | erythrocyte count |
| EFO:0004340 | body mass index |
| EFO:0006335 | systolic blood pressure |
| EFO:0004530 | triglyceride measurement |
| EFO:0004531 | urate measurement |
| EFO:0000266 | aortic stenosis |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0004348 | hematocrit |
| EFO:0004509 | hemoglobin measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D013577 | Syndrome | C23.550.288.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, decreases expression, increases methylation | 3 |
| bisphenol F | decreases methylation, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation, affects cotreatment, increases methylation | 1 |
| trichostatin A | increases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| sodium arsenite | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| bisphenol S | affects methylation | 1 |
| Resveratrol | decreases expression, affects cotreatment | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Cisplatin | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Cadmium Chloride | increases expression | 1 |
Clinical trials (associated diseases)
27 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00027456 | PHASE2 | COMPLETED | Leptin to Treat Severe Insulin Resistance - Pilot Study |
| NCT06310681 | Not specified | COMPLETED | Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability |
| NCT07303049 | Not specified | NOT_YET_RECRUITING | Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder |
| NCT00213447 | Not specified | COMPLETED | T Cell Response in Hypersensitivity Syndrome |
| NCT02240888 | Not specified | COMPLETED | Vaccination in Inflammatory Rheumatic Disease (VACCIMIL). The Impact of Antirheumatic Treatment on Antibody Response |
| NCT02526082 | Not specified | ACTIVE_NOT_RECRUITING | Long-term Follow-up of the Helsinki Businessmen Study |
| NCT02637518 | Not specified | UNKNOWN | Comprehensive Validation of Frailty Assessment Tools in Older Adults in Different Clinical and Social Settings |
| NCT02971072 | Not specified | COMPLETED | Neurophysiology of Weakness and Exercise in Rotator Cuff Tendinopathy |
| NCT02974569 | Not specified | COMPLETED | Improving Symptom Self-management in Adolescents & Young Adults With Cancer |
| NCT03265561 | Not specified | COMPLETED | Spinal Infection Management With Structural Allograft |
| NCT04190342 | Not specified | COMPLETED | Effects of a Traditional Chinese Exercise Program on Symptom Cluster in Breast Cancer Patients |
| NCT04874584 | Not specified | COMPLETED | Culturally Tailored Nurse Coaching Study for Cancer Symptom Management |
| NCT04909489 | Not specified | UNKNOWN | PDR and SKYD of Dyslipidemia’s Characteristics From the Oxidative Stress Enhancement Caused by Inhibition of Serine Metabolic Pathway |
| NCT05218122 | Not specified | UNKNOWN | Characteristics of LKDS and PBSS of KOA Based on the Enhancement of Inflammatory Response by TGF-β/Smad Pathway Inhibited |
| NCT05266118 | Not specified | COMPLETED | Patient Reported Symptoms the First Week After Intensive Care Unit Discharge and up to Hospital Discharge |
| NCT05321966 | Not specified | COMPLETED | The Effect of Video Training on Symptom Burden Patients Undergoing Hemodialysis Treatment |
| NCT05818748 | Not specified | UNKNOWN | Effect Of Virtual Reality Distraction on Symptom Control and Anxiety in Children With Leukemia |
| NCT05837988 | Not specified | UNKNOWN | Construction of Symptom Network in Maintenance Hemodialysis Patients |
| NCT06143436 | Not specified | UNKNOWN | TCM Constitution, Pattern Types, and Disease Factors in Primary Lung Cancer. |
| NCT06222008 | Not specified | UNKNOWN | Study on Symptom Clusters During Chemotherapy in Ovarian Cancer Patients With Different Chinese Medicine Constitution |
| NCT06412107 | Not specified | COMPLETED | Somatic Acupressure for Symptom Cluster Management in Breast Cancer Survivors |
| NCT06847360 | Not specified | RECRUITING | Home-based Transcutaneous Auricular Vagus Nerve Stimulation (taVNS) for IBS Pain |
| NCT07281300 | Not specified | RECRUITING | Mindfulness-Oriented Respiratory Distress Symptom Intervention for Lung Cancer |
| NCT07315672 | Not specified | RECRUITING | Acupressure for Cough in Lung Cancer Survivors |
| NCT07479654 | Not specified | NOT_YET_RECRUITING | AI-Enabled Frailty Risk Prediction in Adult Congenital Heart Disease |
| NCT07495358 | Not specified | NOT_YET_RECRUITING | Development and Usability Evaluation of a Knowledge Graph-Based Symptom Management System for Patients With Breast Cancer Undergoing Chemotherapy |
| NCT07576114 | Not specified | RECRUITING | Comparison of Gluteal Muscle Activation and Core Strengthening in Dead Butt Syndrome Syndrome |
Related Atlas pages
- Associated diseases: complex neurodevelopmental disorder, syndromic disease, syndromic complex neurodevelopmental disorder
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): aortic valve calcification, syndromic complex neurodevelopmental disorder, syndromic disease