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Atlas / Gene / GLCCI1

GLCCI1

gene
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Also known as GIG18FAM117CTSSN1

Summary

GLCCI1 (glucocorticoid induced 1, HGNC:18713) is a protein-coding gene on chromosome 7p21.3, encoding Glucocorticoid-induced transcript 1 protein (Q86VQ1).

This gene encodes a protein of unknown function. Expression of this gene is induced by glucocorticoids and may be an early marker for glucocorticoid-induced apoptosis. Single nucleotide polymorphisms in this gene are associated with a decreased response to inhaled glucocorticoids in asthmatic patients.

Source: NCBI Gene 113263 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): glucocorticoid therapy, response to (Limited, GenCC)
  • GWAS associations: 28
  • Clinical variants (ClinVar): 120 total
  • MANE Select transcript: NM_138426

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:18713
Approved symbolGLCCI1
Nameglucocorticoid induced 1
Location7p21.3
Locus typegene with protein product
StatusApproved
AliasesGIG18, FAM117C, TSSN1
Ensembl geneENSG00000106415
Ensembl biotypeprotein_coding
OMIM614283
Entrez113263

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 9 protein_coding, 5 retained_intron, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000223145, ENST00000414914, ENST00000430798, ENST00000438949, ENST00000460897, ENST00000470583, ENST00000474269, ENST00000482540, ENST00000489405, ENST00000491947, ENST00000492797, ENST00000496617, ENST00000865612, ENST00000865613, ENST00000924963, ENST00000924964, ENST00000924965, ENST00000951620

RefSeq mRNA: 1 — MANE Select: NM_138426 NM_138426

CCDS: CCDS34601

Canonical transcript exons

ENST00000223145 — 8 exons

ExonStartEnd
ENSE0000067130080848978085017
ENSE0000185446780861938089080
ENSE0000190127479687967969807
ENSE0000346166680554338055549
ENSE0000350246380039088004059
ENSE0000350248180224838022569
ENSE0000351674680709218071131
ENSE0000369408780600968060248

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 99.40.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.7435 / max 148.4644, expressed in 1480 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter IDTPM avgSamples expressed
772095.93871327
772103.3751946
772140.187398
772080.157373
772170.085223

Top tissues by expression

257 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
thymusUBERON:000237099.40gold quality
secondary oocyteCL:000065598.50gold quality
oocyteCL:000002398.37gold quality
ventricular zoneUBERON:000305396.41gold quality
cerebellar vermisUBERON:000472096.16gold quality
pylorusUBERON:000116695.96gold quality
bone marrow cellCL:000209295.53gold quality
spermCL:000001995.11gold quality
lower lobe of lungUBERON:000894994.99gold quality
tibiaUBERON:000097994.52gold quality
thyroid glandUBERON:000204693.59gold quality
epithelium of nasopharynxUBERON:000195193.52gold quality
amniotic fluidUBERON:000017393.51gold quality
trabecular bone tissueUBERON:000248393.51gold quality
nasopharynxUBERON:000172893.50gold quality
left lobe of thyroid glandUBERON:000112093.38gold quality
right lobe of thyroid glandUBERON:000111992.86gold quality
tracheaUBERON:000312692.84gold quality
ganglionic eminenceUBERON:000402392.69gold quality
embryoUBERON:000092292.68gold quality
Brodmann (1909) area 23UBERON:001355492.50gold quality
parotid glandUBERON:000183192.43gold quality
bone marrowUBERON:000237192.15gold quality
ileal mucosaUBERON:000033191.99gold quality
nippleUBERON:000203091.99gold quality
cortical plateUBERON:000534391.98gold quality
upper leg skinUBERON:000426291.85gold quality
synovial jointUBERON:000221791.75gold quality
occipital lobeUBERON:000202191.36gold quality
bronchusUBERON:000218591.35gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

ExperimentMarker?Max mean expression
E-CURD-119yes33.54
E-ANND-3yes24.23
E-GEOD-93593yes7.67
E-MTAB-6075no417.91

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR, NR3C1

miRNA regulators (miRDB)

251 targeting GLCCI1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-8485100.0077.574731
HSA-MIR-30A-5P100.0076.313233
HSA-MIR-30B-5P100.0076.293248
HSA-MIR-30C-5P100.0076.293248
HSA-MIR-30D-5P100.0076.323233
HSA-MIR-30E-5P100.0076.323242
HSA-LET-7A-3P100.0074.033932
HSA-LET-7B-3P100.0074.083913
HSA-LET-7F-1-3P100.0074.023928
HSA-MIR-98-3P100.0074.083907
HSA-MIR-4262100.0073.263931
HSA-MIR-200B-3P100.0073.312693
HSA-MIR-200C-3P100.0073.352685
HSA-MIR-429100.0073.442698
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-4682100.0068.891258
HSA-MIR-5692A100.0074.406850
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-3163100.0077.238605
HSA-MIR-3924100.0072.092394
HSA-MIR-33A-5P99.9968.621055
HSA-MIR-33B-5P99.9968.581062
HSA-MIR-181A-5P99.9972.962995
HSA-MIR-181B-5P99.9972.972996
HSA-MIR-181C-5P99.9972.952996
HSA-MIR-181D-5P99.9973.042997
HSA-MIR-428299.9975.366408
HSA-MIR-318599.9968.121959
HSA-MIR-366299.9973.825684
HSA-MIR-480399.9871.993117

Literature-anchored findings (GeneRIF, showing 25)

  • A functional GLCCI1 variant is associated with substantial decrements in the response to inhaled glucocorticoids in patients with asthma. (PMID:21991891)
  • Variation at GLCCI1 and FCER2 could lead personalized asthma treatment. (PMID:22304573)
  • GLCCI1 nucleotide polymorphisms associated with steroid-responsiveness in asthmatic patients are unlikely to have a clinically actionable impact in pediatric nephrotic syndrome. (PMID:22660954)
  • Studied the influence of GLCCI1 SNP rs37972 on dexamethasone efficacy in bacterial meningitis patients.Results show rs37972 in GLCCI1 is associated with death in patients with CA bacterial meningitis treated with adjunctive dexamethasone therapy. (PMID:22796022)
  • Novel association was found between intraocular pressure and a common variant at 7p21 near to GLCCI1 and ICA1. (PMID:23836780)
  • GLCCI1 rs37973 does not influence treatment response to inhaled corticosteroids in white subjects with asthma. (PMID:24131825)
  • GLCCI1 variant accelerates pulmonary function decline in patients with asthma receiving inhaled corticosteroids. (PMID:24673601)
  • GLCCI1 rs37972 T allele was not significantly associated with an increased risk of oral corticosteroid use. (PMID:24897287)
  • the minor alleles “T” and “G” of rs37972 and rs37973 SNPs, respectively, were not significantly associated with increased asthma risk in asthma patients from Saudi Arabia (PMID:25134782)
  • Carriers of the GLCCI1-C allele had lower levels of baseline rheumatoid arthritis disease activity, suggesting a role for the GLCCI1 gene in regulation of glucocorticoid sensitivity to endogenously produced cortisol. (PMID:25724472)
  • Carriers of the rs41423247 GLCCI1 polymorphism had a higher probability of responding to glucocorticoids, whereas all other polymorphisms did not affect the likelihood of response to treatment of graft-versus-host disease patients. (PMID:25843653)
  • GLCCI1 variations may affect inhaled corticosteroid response by modulating GLCCI1 expression. (PMID:27133712)
  • A worsening of pulmonary function caused by GLCCI1 variants could be prevented due to recently used medications based on new action mechanisms. (PMID:28488322)
  • CC/CT genotype was significantly associated with post-transplant hypertension (PMID:29224020)
  • this study found the GG genotype of GLCCI1 to be associated with better inhaled corticosteroids treatment response in asthma patients (PMID:29345236)
  • The genetic variant rs37973 in GLCCI1 is associated with poorer clinical therapeutic response to inhaled glucocorticoids in a Chinese asthma population. (PMID:29384926)
  • The GLCCI1 rs37973 variant is a risk factor for glucocorticoid resistance in Chinese patients with SAR who receive short-term intranasal corticosteroids treatment. one genotype of GLCCI1, rs37973, was significantly associated with the INCS response. The effective rate of the GG group was lower than those of the AA and AG groups (AA vs. GG: 73.7% vs. 51.6%, P=0.007; AG vs. GG: 78.8% vs. 51.6%, P=0.000). (PMID:29981236)
  • GLCCI1 variant was associated with a significant decrease of the total lung capacity at 3 years after lung transplantation (PMID:30229311)
  • The rs37973 polymorphism of GLCCI1 is related to postoperative recovery from chronic rhinosinusitis (CRS) for individual sensitivity to glucocorticoids. Furthermore, AA genotype was associated with better treatment response in CRS. (PMID:30256538)
  • GLCCI1 is a downstream molecule of the GC-GR cascade that acts as an antiapoptotic mediator in thymic T cells. Phosphorylated GLCCI1colocalized with microtubules in transfected cells. GR-dependent upregulation of GLCCI1 was proapoptotic in a cultured thymocyte cell line. Transgenic mice overexpressing human GLCCI1 had enlarged thymi with many thymocytes. GLCCI1 bound to both LC8 and PAK1. It reduced BIM expression. (PMID:30860871)
  • GLCCI1 and STIP1 variants are associated with asthma susceptibility and inhaled corticosteroid response in a Tunisian population. (PMID:31516081)
  • Effects of STIP1 and GLCCI1 polymorphisms on the risk of childhood asthma and inhaled corticosteroid response in Chinese asthmatic children. (PMID:33208131)
  • Hsa_circ_001659 serves as a novel diagnostic and prognostic biomarker for colorectal cancer. (PMID:33725570)
  • GLCCI1 gene body methylation in peripheral blood is associated with asthma and asthma severity. (PMID:34529984)
  • Glucocorticoid-Induced Transcript 1(GLCCI1) SNP rs37937 Is Associated With the Risk of Developing Allergic Rhinitis and the Response to Intranasal Corticosteroids in a Chinese Han Population. (PMID:37553950)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_rerioglcci1aENSDARG00000008503
mus_musculusGlcci1ENSMUSG00000029638
rattus_norvegicusGlcci1ENSRNOG00000076831

Paralogs (2): FAM117A (ENSG00000121104), FAM117B (ENSG00000138439)

Protein

Protein identifiers

Glucocorticoid-induced transcript 1 protein — Q86VQ1 (reviewed: Q86VQ1)

All UniProt accessions (4): Q86VQ1, H7C0B2, H7C0Q2, H7C2L5

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Predominantly expressed in lung, spleen, thymus and testis and, at lower levels, in brain, bone marrow, peripheral leukocytes, skin and trachea.

Polymorphism. Polymorphisms dbSNP:rs37972 and dbSNP:rs37973, located in GLCCI1 promoter region, are associated with a decreased response to glucorticoid treatment [MIM:614400] in asthma patients, as well as in chronic obstructive pulmonary disease patients. The mean increase in forced expiratory volume in 1 second in glucorticoid treated subjects who are homozygous for the mutant (G) rs37973 allele is only about one-third of that seen in similarly treated subjects who are homozygous for the wild-type allele (A). These polymorphisms affect GLCCI1 transcription level.

RefSeq proteins (1): NP_612435* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR026642Glcci1/FAM117Family

Pfam: PF15388

UniProt features (42 total): modified residue 22, compositionally biased region 14, region of interest 4, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q86VQ1-F153.880.01

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 (22): 20, 79, 105, 107, 108, 110, 171, 172, 175, 177, 223, 258, 266, 303, 343, 345, 350, 394, 398, 406 …

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 259 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, MODULE_97, FISCHER_G1_S_CELL_CYCLE, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, MODULE_182, CTATGCA_MIR153, BILD_HRAS_ONCOGENIC_SIGNATURE, CATTTCA_MIR203, RIGGI_EWING_SARCOMA_PROGENITOR_DN, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, BASAKI_YBX1_TARGETS_DN, TURASHVILI_BREAST_CARCINOMA_DUCTAL_VS_LOBULAR_UP, CUI_TCF21_TARGETS_2_DN

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (1): cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
binding1
intracellular anatomical structure1
cellular anatomical structure1

Protein interactions and networks

STRING

458 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
GLCCI1FCER2P06734540
GLCCI1CRHR1P34998523
GLCCI1UMAD1C9J7I0479
GLCCI1ICA1P78506479
GLCCI1FAM53CQ9NYF3467
GLCCI1FBXL7Q9UJT9451
GLCCI1OR6X1Q8NH79447
GLCCI1SPATS2LQ9NUQ6432
GLCCI1NR3C1P04150431
GLCCI1MVB12BQ9H7P6404
GLCCI1WDR45BQ5MNZ6397
GLCCI1PDZD9Q8IXQ8388
GLCCI1ALKQ9UM73385
GLCCI1NUP188Q5SRE5377
GLCCI1TMCO1Q9UM00375

IntAct

41 interactions, top by confidence:

ABTypeScore
DYNLL1BLTP3Bpsi-mi:“MI:0914”(association)0.730
DYNLL2BLTP3Bpsi-mi:“MI:0914”(association)0.640
YWHAHPLEKHG3psi-mi:“MI:0914”(association)0.610
YWHAGSHTN1psi-mi:“MI:0914”(association)0.560
TRIM41GLCCI1psi-mi:“MI:0915”(physical association)0.560
YWHAQIGLC7psi-mi:“MI:0914”(association)0.530
YWHAZBLTP3Bpsi-mi:“MI:0914”(association)0.530
ZAR1LBCL2L11psi-mi:“MI:0914”(association)0.530
DYRK1BBMAL1psi-mi:“MI:0914”(association)0.530
DCAF7CLASP2psi-mi:“MI:0914”(association)0.510
ERICH6GLCCI1psi-mi:“MI:0915”(physical association)0.400
Dynll1psi-mi:“MI:0915”(physical association)0.400
SLC23A2GLCCI1psi-mi:“MI:0915”(physical association)0.400
Xpo1IFT56psi-mi:“MI:0914”(association)0.350
TRIM41ANKHD1psi-mi:“MI:0914”(association)0.350
YWHABPLEKHG3psi-mi:“MI:0914”(association)0.350
YWHAGC1orf226psi-mi:“MI:0914”(association)0.350
DYRK1ASEC16Apsi-mi:“MI:0914”(association)0.350
DYRK1BPOM121Cpsi-mi:“MI:0914”(association)0.350
YWHAHSHTN1psi-mi:“MI:0914”(association)0.350
DYRK1ATEX13Dpsi-mi:“MI:0914”(association)0.350
YWHABBRAFpsi-mi:“MI:0914”(association)0.350
YWHAEDEPDC5psi-mi:“MI:0914”(association)0.350
YWHAGBRAFpsi-mi:“MI:0914”(association)0.350
YWHABFOXO6psi-mi:“MI:0914”(association)0.350

BioGRID (65): GLCCI1 (Affinity Capture-MS), GLCCI1 (Affinity Capture-MS), GLCCI1 (Affinity Capture-MS), GLCCI1 (Affinity Capture-MS), GLCCI1 (Affinity Capture-MS), GLCCI1 (Affinity Capture-MS), GLCCI1 (Affinity Capture-MS), GLCCI1 (Affinity Capture-MS), GLCCI1 (Affinity Capture-MS), GLCCI1 (Affinity Capture-RNA), GLCCI1 (Affinity Capture-MS), GLCCI1 (Affinity Capture-MS), GLCCI1 (Affinity Capture-MS), GLCCI1 (Affinity Capture-MS), GLCCI1 (Affinity Capture-MS)

ESM2 similar proteins: A0A088MLT8, A6NNE9, A6P320, B3KU38, B5DF41, D4AE48, G3V9M2, O15079, O43521, O54918, O75081, O88498, P0C1G7, P0DPB3, P0DPB4, P49796, P53349, P78524, Q14DQ1, Q1LY51, Q3U3E2, Q50H33, Q5FVG6, Q5XKK7, Q60698, Q62925, Q68FF7, Q6P1L5, Q6ZNC4, Q7TNF9, Q80TE3, Q80U23, Q80U62, Q80UZ0, Q86VQ1, Q8BGW2, Q8BWU3, Q8CBH7, Q8IWP9, Q8K3I9

Diamond homologs: Q3U3E2, Q6P1L5, Q7TNF9, Q86VQ1, Q8K3I9, Q9C073

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 37 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:

PathwayPartnersFoldFDR
Activation of BAD and translocation to mitochondria6169.2×4e-11
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex6149.3×5e-11
SARS-CoV-1 targets host intracellular signalling and regulatory pathways6149.3×5e-11
Activation of BH3-only proteins7128.7×1e-11
Intrinsic Pathway for Apoptosis775.9×1e-10
RHO GTPases activate PKNs670.5×5e-09
FOXO-mediated transcription562.2×3e-07
Apoptosis743.5×4e-09

GO biological processes:

GO termPartnersFoldFDR
protein targeting559.1×3e-06
substantia nigra development559.1×3e-06
intracellular protein localization620.3×4e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

120 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance100
Likely benign4
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1974 predictions. Top by Δscore:

VariantEffectΔscore
7:8003897:A:AGacceptor_gain1.0000
7:8003898:C:Gacceptor_gain1.0000
7:8003904:GTAGC:Gacceptor_loss1.0000
7:8003905:TAG:Tacceptor_loss1.0000
7:8003906:A:AGacceptor_gain1.0000
7:8003906:AG:Aacceptor_loss1.0000
7:8003906:AGC:Aacceptor_gain1.0000
7:8003907:G:GCacceptor_gain1.0000
7:8003907:GC:Gacceptor_gain1.0000
7:8003907:GCG:Gacceptor_gain1.0000
7:8022471:T:Gacceptor_gain1.0000
7:8022480:A:Gacceptor_gain1.0000
7:8022567:GAG:Gdonor_gain1.0000
7:8055422:T:TAacceptor_gain1.0000
7:8055545:CTCAG:Cdonor_loss1.0000
7:8055546:TCAGG:Tdonor_loss1.0000
7:8055547:CAG:Cdonor_loss1.0000
7:8055548:AG:Adonor_loss1.0000
7:8055549:GG:Gdonor_loss1.0000
7:8055550:GTAGG:Gdonor_loss1.0000
7:8055551:T:Gdonor_loss1.0000
7:8060090:TCATA:Tacceptor_loss1.0000
7:8060091:CATA:Cacceptor_loss1.0000
7:8060092:ATAGG:Aacceptor_loss1.0000
7:8060093:TA:Tacceptor_loss1.0000
7:8060094:A:ACacceptor_loss1.0000
7:8060094:A:AGacceptor_gain1.0000
7:8060095:G:GAacceptor_loss1.0000
7:8060095:G:GGacceptor_gain1.0000
7:8060246:AAGGT:Adonor_loss1.0000

AlphaMissense

3521 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
7:8004003:T:AW185R1.000
7:8004003:T:CW185R1.000
7:8004005:G:CW185C1.000
7:8004005:G:TW185C1.000
7:8055446:T:CL237P1.000
7:8084938:C:TP407S1.000
7:8084939:C:AP407H1.000
7:8084944:C:TP409S1.000
7:8084945:C:AP409Q1.000
7:8084953:A:CS412R1.000
7:8084955:C:AS412R1.000
7:8084955:C:GS412R1.000
7:8084962:T:CF415L1.000
7:8084963:T:CF415S1.000
7:8084963:T:GF415C1.000
7:8084964:C:AF415L1.000
7:8084964:C:GF415L1.000
7:8084969:G:CR417P1.000
7:8084974:C:TP419S1.000
7:8084975:C:AP419H1.000
7:8084977:C:TP420S1.000
7:8084978:C:AP420Q1.000
7:8084983:G:AG422R1.000
7:8084983:G:CG422R1.000
7:8084984:G:AG422E1.000
7:8084986:T:CC423R1.000
7:8084987:G:AC423Y1.000
7:8084988:T:GC423W1.000
7:8086230:C:TP446S1.000
7:8086231:C:AP446H1.000

dbSNP variants (sampled 300 via entrez): RS1000031220 (7:8004278 A>G,T), RS1000042849 (7:8006072 A>T), RS1000051214 (7:8085300 GTTTAGATGGTAACAAAGAGAC>G), RS1000078680 (7:8039866 G>A), RS1000098408 (7:8001093 G>T), RS1000112778 (7:7996140 C>T), RS1000155722 (7:7998891 C>T), RS1000183515 (7:8070763 G>A), RS1000190763 (7:8034380 A>G), RS1000215525 (7:8068534 C>A), RS1000241191 (7:8021482 G>C), RS1000323828 (7:8044961 C>A,G), RS1000329058 (7:7981669 A>G), RS1000368461 (7:8029027 G>A,C), RS1000409926 (7:8086992 A>G)

Disease associations

OMIM: gene MIM:614283 | disease phenotypes: MIM:614400

GenCC curated gene-disease

DiseaseClassificationInheritance
glucocorticoid therapy, response toLimitedAutosomal dominant

Mondo (1): glucocorticoid therapy, response to (MONDO:0013732)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

28 associations (top):

StudyTraitp-value
GCST002089_1Intraocular pressure1.000000e-08
GCST002386_3Cognitive function4.000000e-06
GCST003542_38Night sleep phenotypes6.000000e-06
GCST004608_36Granulocyte percentage of myeloid white cells9.000000e-10
GCST004613_154Sum neutrophil eosinophil counts4.000000e-09
GCST004614_98Granulocyte count3.000000e-09
GCST004624_108Sum eosinophil basophil counts2.000000e-09
GCST004967_5Moderate or severe diarrhoea in darapladib-treated cardiovascular disease (time to event)3.000000e-08
GCST005316_46Intelligence (MTAG)1.000000e-09
GCST006976_120Macular thickness4.000000e-11
GCST008152_173Weight8.000000e-06
GCST008163_582Height3.000000e-06
GCST008595_182Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)2.000000e-08
GCST008839_244Height4.000000e-13
GCST009523_47Household income3.000000e-09
GCST009524_150Household income (MTAG)2.000000e-12
GCST009524_242Household income (MTAG)1.000000e-14
GCST012226_696Waist circumference adjusted for body mass index4.000000e-08
GCST012227_105Hip circumference adjusted for BMI2.000000e-10
GCST90000025_147Appendicular lean mass7.000000e-20
GCST90002379_145Basophil count2.000000e-20
GCST90002380_42Basophil percentage of white cells1.000000e-13
GCST90002381_173Eosinophil count9.000000e-10
GCST90002394_186Monocyte percentage of white cells1.000000e-19
GCST90002398_420Neutrophil count5.000000e-17
GCST90002399_166Neutrophil percentage of white cells3.000000e-13
GCST90002407_541White blood cell count6.000000e-13
GCST90020028_133Hip circumference adjusted for BMI2.000000e-09

EFO canonical traits (18, from GWAS)

EFO IDTrait name
EFO:0004695intraocular pressure measurement
EFO:0003925cognition
EFO:0007997granulocyte percentage of myeloid white cells
EFO:0004833neutrophil count
EFO:0004842eosinophil count
EFO:0007987granulocyte count
EFO:0005090basophil count
EFO:0008395response to darapladib
EFO:0004337intelligence
EFO:0004338body weight
EFO:0004784self reported educational attainment
EFO:0009695household income
EFO:0007789BMI-adjusted waist circumference
EFO:0008039BMI-adjusted hip circumference
EFO:0004980appendicular lean mass
EFO:0007992basophil percentage of leukocytes
EFO:0007989monocyte percentage of leukocytes
EFO:0007990neutrophil percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

1 annotations.

VariantTypeLevelDrugsPhenotypes
rs37973Efficacy3budesonide;flunisolide;fluticasone propionate;glucocorticoids;nedocromil;triamcinoloneAsthma

PharmGKB variants

41 variants.

VariantGenesLevelScore#Clin annotsDrugs
rs37973GLCCI130.001budesonide;flunisolide;fluticasone propionate;glucocorticoids;nedocromil;triamcinolone
rs37972GLCCI10.000
rs37976GLCCI10.000
rs7792118GLCCI10.000
rs715377GLCCI10.000
rs12537880GLCCI10.000
rs7800750GLCCI10.000
rs37990GLCCI10.000
rs38010GLCCI10.000
rs2041362GLCCI10.000
rs17141876GLCCI10.000
rs1476823GLCCI10.000
rs10229643GLCCI10.000
rs13239966GLCCI10.000
rs10243846GLCCI10.000
rs13245462GLCCI10.000
rs10435183GLCCI10.000
rs7801924GLCCI10.000
rs4725061GLCCI10.000
rs10226865GLCCI10.000
rs13222222GLCCI10.000
rs6969971GLCCI10.000
rs9648623GLCCI10.000
rs13242904GLCCI10.000
rs11978165GLCCI10.000
rs6463755GLCCI10.000
rs16872488GLCCI10.000
rs2191318GLCCI10.000
rs11976862GLCCI10.000
rs4236406GLCCI10.000
rs17142716GLCCI10.000
rs17142727GLCCI10.000
rs10253260GLCCI10.000
rs10952084GLCCI10.000
rs6964558GLCCI10.000
rs6956039GLCCI10.000
rs1468594GLCCI10.000
rs10257285GLCCI10.000
rs12668352GLCCI10.000
rs929509GLCCI10.000

CTD chemical–gene interactions

49 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, decreases expression, affects expression6
trichostatin Aaffects cotreatment, decreases expression3
Cadmium Chloridedecreases expression, increases abundance, increases expression3
epigallocatechin gallateincreases expression, affects cotreatment, decreases expression2
entinostatdecreases expression, affects cotreatment2
Panobinostataffects cotreatment, decreases expression2
Phenylmercuric Acetateaffects cotreatment, decreases expression2
FR900359increases phosphorylation1
pirinixic acidaffects binding, decreases expression, increases activity1
arseniteaffects binding, decreases reaction1
afimoxifenedecreases expression, decreases reaction1
sodium arsenitedecreases expression1
sulindac sulfideincreases expression1
potassium chromate(VI)affects cotreatment, decreases expression1
nickel sulfatedecreases expression1
lei gong tengincreases expression1
beta-methylcholineaffects expression1
CGP 52608affects binding, increases reaction1
2-palmitoylglycerolincreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, decreases expression1
dorsomorphinaffects cotreatment, decreases expression1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidineincreases expression, increases response to substance1
jinfukangdecreases expression, affects cotreatment1
(+)-JQ1 compoundincreases expression1
Acetaminophenincreases expression1
Air Pollutantsdecreases expression, increases abundance1
Cadmiumdecreases expression, increases abundance1
Caffeinedecreases phosphorylation1
Cisplatinaffects cotreatment, decreases expression1
Dichlorodiphenyl Dichloroethylenedecreases expression1

Clinical trials (associated diseases)

1 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT00813189PHASE3COMPLETEDEfficacy Study of Recombinant Growth Hormone on Muscle Function in Children Long-term Treated With Glucocorticoid

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 74

This page pulls from 74 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot