ZC3H7B
gene geneOn this page
Also known as RoXaNFLJ13787DKFZp434K0920KIAA1031
Summary
ZC3H7B (zinc finger CCCH-type containing 7B, HGNC:30869) is a protein-coding gene on chromosome 22q13.2, encoding Zinc finger CCCH domain-containing protein 7B (Q9UGR2). May be a specific regulator of miRNA biogenesis.
This gene encodes a protein that contains a tetratricopeptide repeat domain. The encoded protein also interacts with the rotavirus non-structural protein NSP3.
Source: NCBI Gene 23264 — RefSeq curated summary.
At a glance
- GWAS associations: 22
- Clinical variants (ClinVar): 143 total
- MANE Select transcript:
NM_017590
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30869 |
| Approved symbol | ZC3H7B |
| Name | zinc finger CCCH-type containing 7B |
| Location | 22q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RoXaN, FLJ13787, DKFZp434K0920, KIAA1031 |
| Ensembl gene | ENSG00000100403 |
| Ensembl biotype | protein_coding |
| OMIM | 618206 |
| Entrez | 23264 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 7 protein_coding, 1 retained_intron
ENST00000352645, ENST00000486331, ENST00000897616, ENST00000897617, ENST00000897618, ENST00000897619, ENST00000897620, ENST00000926343
RefSeq mRNA: 1 — MANE Select: NM_017590
NM_017590
CCDS: CCDS14013
Canonical transcript exons
ENST00000352645 — 23 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000655648 | 41339001 | 41339191 |
| ENSE00000655656 | 41339816 | 41340137 |
| ENSE00000655666 | 41341088 | 41341146 |
| ENSE00000655675 | 41342529 | 41342628 |
| ENSE00000655683 | 41343415 | 41343576 |
| ENSE00000655685 | 41346003 | 41346208 |
| ENSE00000655690 | 41348067 | 41348167 |
| ENSE00000655697 | 41349120 | 41349301 |
| ENSE00000655717 | 41355469 | 41355602 |
| ENSE00000655723 | 41355757 | 41355862 |
| ENSE00000655726 | 41355954 | 41356062 |
| ENSE00000655728 | 41356343 | 41356476 |
| ENSE00000655731 | 41356645 | 41356808 |
| ENSE00000911293 | 41332171 | 41332227 |
| ENSE00001243074 | 41351561 | 41351646 |
| ENSE00001307363 | 41301525 | 41301772 |
| ENSE00001309276 | 41357177 | 41360147 |
| ENSE00001382058 | 41338313 | 41338355 |
| ENSE00003478521 | 41327206 | 41327364 |
| ENSE00003534385 | 41325564 | 41325597 |
| ENSE00003546336 | 41330023 | 41330103 |
| ENSE00003551094 | 41325721 | 41325918 |
| ENSE00003628979 | 41320655 | 41320713 |
Expression profiles
Bgee: expression breadth ubiquitous, 281 present calls, max score 99.32.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 65.6698 / max 614.6223, expressed in 1821 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 192460 | 62.0600 | 1821 |
| 192459 | 2.4790 | 1224 |
| 192458 | 0.5883 | 326 |
| 192465 | 0.3302 | 146 |
| 192461 | 0.2124 | 78 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 99.32 | gold quality |
| buccal mucosa cell | CL:0002336 | 99.22 | gold quality |
| nipple | UBERON:0002030 | 98.99 | gold quality |
| renal medulla | UBERON:0000362 | 98.95 | gold quality |
| cardia of stomach | UBERON:0001162 | 98.95 | gold quality |
| pylorus | UBERON:0001166 | 98.75 | gold quality |
| superior surface of tongue | UBERON:0007371 | 98.60 | gold quality |
| ventral tegmental area | UBERON:0002691 | 98.51 | gold quality |
| sperm | CL:0000019 | 98.42 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 98.41 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 98.13 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 98.07 | gold quality |
| pericardium | UBERON:0002407 | 98.06 | gold quality |
| saphenous vein | UBERON:0007318 | 98.06 | gold quality |
| periodontal ligament | UBERON:0008266 | 98.01 | gold quality |
| male germ cell | CL:0000015 | 97.99 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 97.94 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 97.89 | gold quality |
| visceral pleura | UBERON:0002401 | 97.58 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 97.52 | gold quality |
| trachea | UBERON:0003126 | 97.42 | gold quality |
| vena cava | UBERON:0004087 | 97.28 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 97.25 | gold quality |
| penis | UBERON:0000989 | 97.23 | gold quality |
| body of tongue | UBERON:0011876 | 97.14 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 97.05 | gold quality |
| urethra | UBERON:0000057 | 97.03 | gold quality |
| blood vessel layer | UBERON:0004797 | 97.03 | gold quality |
| pons | UBERON:0000988 | 97.01 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 96.76 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.73 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
175 targeting ZC3H7B, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-12121 | 99.99 | 66.64 | 255 |
| HSA-MIR-520G-5P | 99.99 | 66.76 | 658 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-1236-3P | 99.94 | 68.04 | 1695 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-6508-5P | 99.92 | 70.67 | 2465 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
Literature-anchored findings (GeneRIF, showing 6)
- RoXaN is capable of interacting with NSP3 and eIF4G I in vivo and during rotavirus infection. Domains of interaction were mapped. (PMID:15047801)
- nuclear localization of PABP-C1 not only is dependent on the capacity of rotavirus NSP3 to interact with eIF4G but also requires the interaction of NSP3 with a specific region in RoXaN (PMID:18799579)
- Reverse transciptase-PCR with the ZC3H7B forward and BCOR reverse primer combinations confirmed the presence of a ZC3H7-BCOR chimeric transcript in both ESS carrying a der(22)t(X;22) but not in a control ESS with t(1;6) and the MEAF6-PHF1 fusion. (PMID:23580382)
- ZC3H7B-BCOR and MEAF6-PHF1 fusions occurred predominantly in S100 protein-negative and malignant ossifying fibromyxoid tumors. (PMID:24285434)
- The present study further expands the genetic spectrum of small blue round cell tumors, with 2 novel fusions, BCOR-MAML3 and ZC3H7B-BCOR, identified (PMID:26752546)
- we find that ESS with ZC3H7B-BCOR fusion constitutes a novel type of high-grade endometrial stromal sarcoma and shares significant morphologic overlap with myxoid leiomyosarcoma. (PMID:27631520)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zc3h7bb | ENSDARG00000055930 |
| danio_rerio | zc3h7ba | ENSDARG00000098540 |
| mus_musculus | Zc3h7b | ENSMUSG00000022390 |
| rattus_norvegicus | Zc3h7b | ENSRNOG00000055925 |
Paralogs (1): ZC3H7A (ENSG00000122299)
Protein
Protein identifiers
Zinc finger CCCH domain-containing protein 7B — Q9UGR2 (reviewed: Q9UGR2)
Alternative names: Rotavirus ‘X’-associated non-structural protein
All UniProt accessions (1): Q9UGR2
UniProt curated annotations — full annotation on UniProt →
Function. May be a specific regulator of miRNA biogenesis. Binds to microRNAs MIR7-1, MIR16-2 and MIR29A hairpins recognizing the ‘ATA(A/T)’ motif in the apical loop.
Subunit / interactions. (Microbial infection) Interacts (via LD motif) with rotavirus A NSP3 (via the coiled-coil region).
Subcellular location. Nucleus.
RefSeq proteins (1): NP_060060* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000571 | Znf_CCCH | Domain |
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
| IPR019734 | TPR_rpt | Repeat |
| IPR036236 | Znf_C2H2_sf | Homologous_superfamily |
| IPR036855 | Znf_CCCH_sf | Homologous_superfamily |
| IPR039691 | ZC3H7A/B | Family |
Pfam: PF00642, PF13181
UniProt features (26 total): sequence conflict 9, zinc finger region 5, repeat 3, modified residue 3, mutagenesis site 2, chain 1, short sequence motif 1, sequence variant 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UGR2-F1 | 70.24 | 0.25 |
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 (3): 217, 364, 367
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 241–243 | almost no effect on nsp3 binding. |
| 252–254 | complete loss of nsp3 binding. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 104 (showing top):
TAATAAT_MIR126, TATTATA_MIR374, CACCAGC_MIR138, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, CAGCAGG_MIR370, BLALOCK_ALZHEIMERS_DISEASE_UP, TCCCCAC_MIR491, GINESTIER_BREAST_CANCER_ZNF217_AMPLIFIED_DN, GAL_LEUKEMIC_STEM_CELL_UP, chr22q13, CAGCTTT_MIR320, GOMF_MIRNA_BINDING, LIU_COMMON_CANCER_GENES, CACTGCC_MIR34A_MIR34C_MIR449, LEE_DIFFERENTIATING_T_LYMPHOCYTE
GO Biological Process (2): post-transcriptional regulation of gene expression (GO:0010608), miRNA processing (GO:0035196)
GO Molecular Function (5): RNA binding (GO:0003723), zinc ion binding (GO:0008270), miRNA binding (GO:0035198), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (1): nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of gene expression | 1 |
| regulatory ncRNA processing | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| regulatory RNA binding | 1 |
| binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1941 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ZC3H7B | SH2D3C | Q8N5H7 | 825 |
| ZC3H7B | CCNB3 | Q8WWL7 | 726 |
| ZC3H7B | NUTM2A | Q8IVF1 | 682 |
| ZC3H7B | MEAF6 | Q9HAF1 | 668 |
| ZC3H7B | YWHAE | P29360 | 630 |
| ZC3H7B | PHF1 | O43189 | 628 |
| ZC3H7B | JAZF1 | Q86VZ6 | 623 |
| ZC3H7B | EZHIP | Q86X51 | 611 |
| ZC3H7B | NUTM2B | A6NNL0 | 603 |
| ZC3H7B | PCGF1 | Q9BSM1 | 593 |
| ZC3H7B | MAML3 | Q96JK9 | 588 |
| ZC3H7B | MBTD1 | Q05BQ5 | 575 |
| ZC3H7B | NUTM2G | Q5VZR2 | 531 |
| ZC3H7B | BCORL1 | Q5H9F3 | 478 |
| ZC3H7B | DUX4L2 | P0CJ85 | 477 |
IntAct
35 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ZC3H7B | psi-mi:“MI:0915”(physical association) | 0.580 | |
| ZC3H7B | psi-mi:“MI:0915”(physical association) | 0.580 | |
| ZC3H7B | EIF4G1 | psi-mi:“MI:0915”(physical association) | 0.570 |
| N | NOP56 | psi-mi:“MI:0914”(association) | 0.530 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS3 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| EIF4G1 | psi-mi:“MI:0915”(physical association) | 0.480 | |
| EIF4G1 | psi-mi:“MI:0914”(association) | 0.480 | |
| ZC3H7B | ZNF638 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZC3H7B | DDX21 | psi-mi:“MI:0915”(physical association) | 0.400 |
| HSP90AB1 | ZC3H7B | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZC3H7B | MLF1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZC3H7B | AARSD1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| JUN | TPM3 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| N | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.350 |
| N | RBM47 | psi-mi:“MI:0914”(association) | 0.350 |
| MYC | psi-mi:“MI:0914”(association) | 0.350 | |
| HNRNPCL2 | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| EEF1AKMT3 | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (73): ZC3H7B (Affinity Capture-RNA), ZC3H7B (Affinity Capture-RNA), ZC3H7B (Affinity Capture-RNA), ZC3H7B (Affinity Capture-MS), ZC3H7B (Affinity Capture-RNA), ZC3H7B (Proximity Label-MS), ZC3H7B (Affinity Capture-MS), ZC3H7B (Affinity Capture-MS), ZC3H7B (Affinity Capture-MS), ZC3H7B (Protein-RNA), ZC3H7B (Protein-RNA), ZC3H7B (Protein-RNA), ZC3H7B (Protein-RNA), ZC3H7B (Proximity Label-MS), ZC3H7B (Proximity Label-MS)
ESM2 similar proteins: A0A0G2JV04, B0V207, D3Z8X7, D3ZFJ3, D3ZND0, F1LM81, G9CGD6, O00499, O08539, O08839, O12940, O60308, O60784, O75674, O88746, P42567, P55194, Q05DH4, Q0GNC1, Q0IHV1, Q27J81, Q3B7M3, Q3UN70, Q4KLN4, Q505K2, Q5FVK6, Q5T0F9, Q5U3K5, Q66HA5, Q68EF0, Q6P1N0, Q6P5E6, Q6P9Q4, Q6P9Q6, Q80V31, Q80V94, Q8BMI3, Q8BRN9, Q8K1A6, Q8R0H9
Diamond homologs: A4K2V0, A6HD62, D7REX8, F4IRM4, F4JTI1, F4K487, O13754, O14217, O35814, O48802, O54981, O94826, P23231, P31948, P33313, P38825, P53041, P53042, Q07617, Q28IV3, Q2U919, Q32PZ3, Q38931, Q3KRD5, Q3ZBR5, Q3ZBZ8, Q43207, Q496Y0, Q4R8N7, Q54DA8, Q54IP0, Q5RAP0, Q5U2X2, Q5VJS5, Q5ZHY5, Q60676, Q60864, Q68F64, Q68FQ7, Q6DGE9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
143 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 119 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3793 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:41301641:G:GT | donor_gain | 1.0000 |
| 22:41320653:A:AG | acceptor_gain | 1.0000 |
| 22:41320654:G:GG | acceptor_gain | 1.0000 |
| 22:41320654:GA:G | acceptor_gain | 1.0000 |
| 22:41320714:G:GG | donor_gain | 1.0000 |
| 22:41325597:GG:G | donor_loss | 1.0000 |
| 22:41325598:GT:G | donor_loss | 1.0000 |
| 22:41325599:T:G | donor_loss | 1.0000 |
| 22:41325916:ATGG:A | donor_loss | 1.0000 |
| 22:41325917:TGGT:T | donor_loss | 1.0000 |
| 22:41325919:G:GG | donor_gain | 1.0000 |
| 22:41325919:GTGA:G | donor_loss | 1.0000 |
| 22:41325920:T:G | donor_loss | 1.0000 |
| 22:41327200:T:TA | acceptor_gain | 1.0000 |
| 22:41327201:G:A | acceptor_gain | 1.0000 |
| 22:41327201:GGCA:G | acceptor_loss | 1.0000 |
| 22:41327202:GCA:G | acceptor_loss | 1.0000 |
| 22:41327203:CA:C | acceptor_loss | 1.0000 |
| 22:41327204:A:AG | acceptor_gain | 1.0000 |
| 22:41327204:AG:A | acceptor_gain | 1.0000 |
| 22:41327204:AGG:A | acceptor_gain | 1.0000 |
| 22:41327204:AGGGC:A | acceptor_loss | 1.0000 |
| 22:41327205:G:GA | acceptor_gain | 1.0000 |
| 22:41327205:GG:G | acceptor_gain | 1.0000 |
| 22:41327205:GGG:G | acceptor_gain | 1.0000 |
| 22:41327205:GGGC:G | acceptor_gain | 1.0000 |
| 22:41327205:GGGCC:G | acceptor_gain | 1.0000 |
| 22:41327320:G:GT | donor_gain | 1.0000 |
| 22:41327361:CCAC:C | donor_gain | 1.0000 |
| 22:41327362:CAC:C | donor_gain | 1.0000 |
AlphaMissense
6455 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:41325737:T:C | L35P | 1.000 |
| 22:41325749:T:C | L39P | 1.000 |
| 22:41325760:G:C | G43R | 1.000 |
| 22:41342593:T:C | F421S | 1.000 |
| 22:41342604:T:C | C425R | 1.000 |
| 22:41342605:G:A | C425Y | 1.000 |
| 22:41342605:G:T | C425F | 1.000 |
| 22:41342606:C:G | C425W | 1.000 |
| 22:41342613:T:A | C428S | 1.000 |
| 22:41342613:T:C | C428R | 1.000 |
| 22:41342614:G:A | C428Y | 1.000 |
| 22:41342614:G:C | C428S | 1.000 |
| 22:41342615:C:G | C428W | 1.000 |
| 22:41343462:T:A | C449S | 1.000 |
| 22:41343462:T:C | C449R | 1.000 |
| 22:41343463:G:C | C449S | 1.000 |
| 22:41343464:C:G | C449W | 1.000 |
| 22:41343513:T:A | W466R | 1.000 |
| 22:41343513:T:C | W466R | 1.000 |
| 22:41343525:C:G | R470G | 1.000 |
| 22:41343549:T:C | F478L | 1.000 |
| 22:41343550:T:C | F478S | 1.000 |
| 22:41343550:T:G | F478C | 1.000 |
| 22:41343551:C:A | F478L | 1.000 |
| 22:41343551:C:G | F478L | 1.000 |
| 22:41343556:G:A | G480D | 1.000 |
| 22:41343561:T:G | Y482D | 1.000 |
| 22:41343570:T:A | C485S | 1.000 |
| 22:41343570:T:C | C485R | 1.000 |
| 22:41343570:T:G | C485G | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000010921 (22:41357628 G>A,C), RS1000023413 (22:41349876 A>G), RS1000043465 (22:41357922 C>A,G), RS1000076835 (22:41351730 A>T), RS1000097745 (22:41327341 C>T), RS1000152653 (22:41312442 A>C,G), RS1000154049 (22:41325175 G>A,C), RS1000277535 (22:41331967 G>A), RS1000295923 (22:41344092 C>T), RS1000401912 (22:41330187 G>A,T), RS1000449778 (22:41318104 C>T), RS1000464987 (22:41337846 G>A), RS1000555280 (22:41314984 A>G), RS1000574608 (22:41335065 A>C), RS1000716843 (22:41359559 G>A,C)
Disease associations
OMIM: gene MIM:618206 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
22 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004521_55 | Autism spectrum disorder or schizophrenia | 9.000000e-09 |
| GCST004600_123 | Eosinophil percentage of white cells | 2.000000e-09 |
| GCST004617_47 | Eosinophil percentage of granulocytes | 5.000000e-11 |
| GCST004623_46 | Neutrophil percentage of granulocytes | 1.000000e-12 |
| GCST004624_33 | Sum eosinophil basophil counts | 5.000000e-10 |
| GCST004785_25 | Vitiligo | 3.000000e-15 |
| GCST004946_20 | Schizophrenia | 1.000000e-12 |
| GCST005232_52 | Neuroticism | 3.000000e-18 |
| GCST006803_24 | Schizophrenia | 6.000000e-13 |
| GCST007709_158 | General factor of neuroticism | 9.000000e-10 |
| GCST007932_101 | Medication use (thyroid preparations) | 9.000000e-09 |
| GCST010002_83 | Refractive error | 2.000000e-27 |
| GCST010133_13 | Lamb consumption | 3.000000e-08 |
| GCST010143_2 | Meat-related diet | 4.000000e-08 |
| GCST010989_166 | Body size at age 10 | 8.000000e-09 |
| GCST011124_12 | Caffeine consumption from tea | 2.000000e-10 |
| GCST011702_1 | Smoking cessation | 1.000000e-08 |
| GCST90002381_449 | Eosinophil count | 6.000000e-22 |
| GCST90002382_513 | Eosinophil percentage of white cells | 2.000000e-21 |
| GCST90002388_272 | Lymphocyte count | 2.000000e-29 |
| GCST90020025_1735 | Waist-to-hip ratio adjusted for BMI | 2.000000e-08 |
| GCST90020027_404 | Waist-hip index | 8.000000e-09 |
EFO canonical traits (13, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007991 | eosinophil percentage of leukocytes |
| EFO:0007996 | eosinophil percentage of granulocytes |
| EFO:0007994 | neutrophil percentage of granulocytes |
| EFO:0004842 | eosinophil count |
| EFO:0005090 | basophil count |
| EFO:0007660 | neuroticism measurement |
| EFO:0009933 | Thyroid preparation use measurement |
| EFO:0008111 | diet measurement |
| EFO:0009819 | comparative body size at age 10, self-reported |
| EFO:0010091 | tea consumption measurement |
| EFO:0004319 | smoking cessation |
| EFO:0004587 | lymphocyte count |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
30 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases methylation, increases expression, increases methylation | 3 |
| trichostatin A | affects expression, increases expression | 2 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Valproic Acid | affects expression, decreases expression, increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| mono-(2-ethylhexyl)phthalate | increases abundance, increases methylation | 1 |
| cobaltous chloride | decreases expression | 1 |
| corosolic acid | increases expression | 1 |
| abrine | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Caffeine | increases phosphorylation | 1 |
| Diethylhexyl Phthalate | increases abundance, increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Triiodothyronine | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Cadmium Chloride | increases abundance, increases 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.