TCF25
gene geneOn this page
Also known as Nulp1KIAA1049
Summary
TCF25 (TCF25 ribosome quality control complex subunit, HGNC:29181) is a protein-coding gene on chromosome 16q24.3, encoding Ribosome quality control complex subunit TCF25 (Q9BQ70). Component of the ribosome quality control complex (RQC), a ribosome-associated complex that mediates ubiquitination and extraction of incompletely synthesized nascent chains for proteasomal degradation.
TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).
Source: NCBI Gene 22980 — RefSeq curated summary.
At a glance
- GWAS associations: 22
- Clinical variants (ClinVar): 167 total
- MANE Select transcript:
NM_014972
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29181 |
| Approved symbol | TCF25 |
| Name | TCF25 ribosome quality control complex subunit |
| Location | 16q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Nulp1, KIAA1049 |
| Ensembl gene | ENSG00000141002 |
| Ensembl biotype | protein_coding |
| OMIM | 612326 |
| Entrez | 22980 |
Gene structure
Transcript identifiers
Ensembl transcripts: 44 — 29 protein_coding, 8 retained_intron, 5 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000263346, ENST00000263347, ENST00000561585, ENST00000561958, ENST00000562184, ENST00000562193, ENST00000562256, ENST00000563032, ENST00000563406, ENST00000563484, ENST00000563636, ENST00000564652, ENST00000564957, ENST00000565196, ENST00000565404, ENST00000565860, ENST00000566158, ENST00000566283, ENST00000566751, ENST00000567171, ENST00000568409, ENST00000568412, ENST00000568870, ENST00000570116, ENST00000614813, ENST00000640279, ENST00000856677, ENST00000856678, ENST00000856679, ENST00000856680, ENST00000856681, ENST00000940255, ENST00000940256, ENST00000940257, ENST00000940258, ENST00000943599, ENST00000943600, ENST00000943601, ENST00000943602, ENST00000943603, ENST00000943604, ENST00000943605, ENST00000943606, ENST00000943607
RefSeq mRNA: 1 — MANE Select: NM_014972
NM_014972
CCDS: CCDS10987
Canonical transcript exons
ENST00000263346 — 18 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000946038 | 89904938 | 89905096 |
| ENSE00001231707 | 89904118 | 89904205 |
| ENSE00002624794 | 89873592 | 89873859 |
| ENSE00003483785 | 89895038 | 89895137 |
| ENSE00003487422 | 89900635 | 89900794 |
| ENSE00003496457 | 89893728 | 89893858 |
| ENSE00003542327 | 89911080 | 89911379 |
| ENSE00003544533 | 89885848 | 89885966 |
| ENSE00003569087 | 89887652 | 89887717 |
| ENSE00003577855 | 89883351 | 89883512 |
| ENSE00003583927 | 89884582 | 89884656 |
| ENSE00003621638 | 89898767 | 89898872 |
| ENSE00003649619 | 89910591 | 89910663 |
| ENSE00003672244 | 89898557 | 89898649 |
| ENSE00003679001 | 89907243 | 89907322 |
| ENSE00003682078 | 89906194 | 89906284 |
| ENSE00003787258 | 89892193 | 89892275 |
| ENSE00003787729 | 89895990 | 89896083 |
Expression profiles
Bgee: expression breadth ubiquitous, 302 present calls, max score 99.34.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 125.5268 / max 1427.9818, expressed in 1826 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 155658 | 89.5282 | 1826 |
| 155657 | 34.9814 | 1819 |
| 155659 | 0.8373 | 436 |
| 155663 | 0.0944 | 27 |
| 155661 | 0.0354 | 11 |
| 155665 | 0.0223 | 7 |
| 155662 | 0.0198 | 5 |
| 155664 | 0.0082 | 3 |
Top tissues by expression
303 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 99.34 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 99.32 | gold quality |
| granulocyte | CL:0000094 | 98.99 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 98.99 | gold quality |
| adenohypophysis | UBERON:0002196 | 98.98 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 98.92 | gold quality |
| pituitary gland | UBERON:0000007 | 98.83 | gold quality |
| right uterine tube | UBERON:0001302 | 98.83 | gold quality |
| mucosa of stomach | UBERON:0001199 | 98.81 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 98.74 | gold quality |
| nipple | UBERON:0002030 | 98.73 | gold quality |
| metanephros cortex | UBERON:0010533 | 98.73 | gold quality |
| left ovary | UBERON:0002119 | 98.72 | gold quality |
| endocervix | UBERON:0000458 | 98.69 | gold quality |
| thyroid gland | UBERON:0002046 | 98.69 | gold quality |
| right ovary | UBERON:0002118 | 98.68 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 98.66 | gold quality |
| pylorus | UBERON:0001166 | 98.65 | gold quality |
| cerebellar cortex | UBERON:0002129 | 98.63 | gold quality |
| left testis | UBERON:0004533 | 98.62 | gold quality |
| tibial nerve | UBERON:0001323 | 98.61 | gold quality |
| body of uterus | UBERON:0009853 | 98.52 | gold quality |
| body of stomach | UBERON:0001161 | 98.51 | gold quality |
| skin of leg | UBERON:0001511 | 98.51 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 98.51 | gold quality |
| stromal cell of endometrium | CL:0002255 | 98.50 | gold quality |
| right testis | UBERON:0004534 | 98.49 | gold quality |
| tendon | UBERON:0000043 | 98.48 | gold quality |
| minor salivary gland | UBERON:0001830 | 98.48 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 98.45 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-137537 | yes | 986.70 |
| E-MTAB-9467 | no | 32.17 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
3 targeting TCF25, 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-3919 | 99.87 | 69.45 | 2489 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-4742-5P | 98.89 | 68.41 | 1542 |
Literature-anchored findings (GeneRIF, showing 4)
- hnulp1 may act as a novel transcriptional repressor in serum response factor signaling pathways. (PMID:16574069)
- These results indicate that Nulp1 plays a role in cell death control and may influence tumor growth. (PMID:18068114)
- Hearing ability was strongly associated with DNA methylation levels in the promoter regions of several genes, including TCF25, FGFR1, and POLE. (PMID:25184702)
- NULP1 Alleviates Cardiac Hypertrophy by Suppressing NFAT3 Transcriptional Activity. (PMID:32805187)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tcf25 | ENSDARG00000040861 |
| mus_musculus | Tcf25 | ENSMUSG00000001472 |
| rattus_norvegicus | Tcf25 | ENSRNOG00000017023 |
| drosophila_melanogaster | Nulp1 | FBGN0027549 |
| caenorhabditis_elegans | K07A12.1 | WBGENE00010620 |
Protein
Protein identifiers
Ribosome quality control complex subunit TCF25 — Q9BQ70 (reviewed: Q9BQ70)
Alternative names: Nuclear localized protein 1, Transcription factor 25
All UniProt accessions (12): Q9BQ70, H3BMJ8, H3BPU1, H3BQ53, H3BR53, H3BRP4, H3BS87, H3BSP8, H3BSS3, H3BTU3, Q9H384, Q9H7D3
UniProt curated annotations — full annotation on UniProt →
Function. Component of the ribosome quality control complex (RQC), a ribosome-associated complex that mediates ubiquitination and extraction of incompletely synthesized nascent chains for proteasomal degradation. In the RQC complex, required to promote formation of ‘Lys-48’-linked polyubiquitin chains during ubiquitination of incompletely synthesized proteins by LTN1. May negatively regulate the calcineurin-NFAT signaling cascade by suppressing the activity of transcription factor NFATC4. May play a role in cell death control.
Subunit / interactions. Component of the ribosome quality control complex (RQC), composed of the E3 ubiquitin ligase LTN1, TCF25 and NEMF associated with the 60S ribosomal subunit. Interacts (via C-terminus) with NFATC4; the interaction leads to suppresson of NFATC4 transcription factor activity and is reduced following stimulation with angiotensin-2. Interacts with XIAP.
Subcellular location. Nucleus. Cytoplasm. Cytosol.
Tissue specificity. In the embryo, widely expressed with highest levels in brain. In the adult, highest expression is found in the heart. Repressed in cardiac tissue of patients with heart failure (at protein level). mRNA levels in the heart are unchanged in patients with heart failure.
Similarity. Belongs to the TCF25 family.
RefSeq proteins (1): NP_055787* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006994 | TCF25/Rqc1 | Family |
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
Pfam: PF04910
UniProt features (5 total): region of interest 2, chain 1, compositionally biased region 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BQ70-F1 | 72.87 | 0.44 |
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 (1): 602
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9954709 | Ribosome Quality Control (RQC) complex extracts and degrades nascent peptide |
MSigDB gene sets: 164 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, TGCGCANK_UNKNOWN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_1, GOBP_TRANSLATION, NIKOLSKY_BREAST_CANCER_16Q24_AMPLICON, RHEIN_ALL_GLUCOCORTICOID_THERAPY_UP, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, GOBP_TRANSLATIONAL_ELONGATION, CUI_TCF21_TARGETS_2_DN
GO Biological Process (2): regulation of protein K48-linked ubiquitination (GO:0061945), rescue of stalled cytosolic ribosome (GO:0072344)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), cytosol (GO:0005829), RQC complex (GO:1990112), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Ribosome-associated quality control | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| protein K48-linked ubiquitination | 1 |
| regulation of protein polyubiquitination | 1 |
| cytoplasmic translational elongation | 1 |
| ribosome disassembly | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasm | 1 |
| protein-containing complex | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1223 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TCF25 | NEMF | O60524 | 864 |
| TCF25 | LTN1 | O94822 | 841 |
| TCF25 | ANKZF1 | Q9H8Y5 | 754 |
| TCF25 | VCP | P55072 | 697 |
| TCF25 | SRF | P11831 | 629 |
| TCF25 | DEF8 | Q6ZN54 | 577 |
| TCF25 | XIAP | P98170 | 574 |
| TCF25 | SPIRE2 | Q8WWL2 | 572 |
| TCF25 | UFD1 | Q92890 | 538 |
| TCF25 | HBS1L | Q9Y450 | 526 |
| TCF25 | ZNF598 | Q86UK7 | 520 |
| TCF25 | NPLOC4 | Q8TAT6 | 516 |
| TCF25 | LGALS4 | P56470 | 495 |
| TCF25 | ZNF276 | Q8N554 | 475 |
| TCF25 | FANCA | O15360 | 471 |
IntAct
115 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SAT1 | TCF25 | psi-mi:“MI:0915”(physical association) | 0.910 |
| TCF25 | SAT1 | psi-mi:“MI:0915”(physical association) | 0.910 |
| TCF25 | GPRASP2 | psi-mi:“MI:0915”(physical association) | 0.900 |
| GPRASP2 | TCF25 | psi-mi:“MI:0915”(physical association) | 0.900 |
| MLF1 | DNAJB6 | psi-mi:“MI:0914”(association) | 0.750 |
| MAGEA11 | TCF25 | psi-mi:“MI:0915”(physical association) | 0.740 |
| LRRK2 | TCF25 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| MAGEA11 | TCF25 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KASH5 | TCF25 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TCF25 | APPBP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DERL1 | TCF25 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TCF25 | KASH5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| APPBP2 | TCF25 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (131): TCF25 (Two-hybrid), TCF25 (Two-hybrid), TCF25 (Two-hybrid), DERL1 (Two-hybrid), GPRASP2 (Two-hybrid), CCDC155 (Two-hybrid), TCF25 (Affinity Capture-MS), TCF25 (Affinity Capture-MS), TCF25 (Affinity Capture-MS), TCF25 (Affinity Capture-MS), TCF25 (Affinity Capture-MS), TCF25 (Two-hybrid), TCF25 (Two-hybrid), SAT1 (Two-hybrid), TCF25 (Affinity Capture-MS)
ESM2 similar proteins: A0A1S4D1D3, A0A1W2PR95, A0A8I6ASZ5, A8WE67, D2K8N5, D3Z8X7, D3ZND0, E1C760, E7EXT2, F6Y9J3, F7AEX0, O08836, O60308, P27641, P54729, P78318, Q0P4W3, Q14CX7, Q15021, Q2QY04, Q2YD98, Q3ZC62, Q4V8E4, Q5EAU9, Q61249, Q68FJ0, Q6NY52, Q6PBQ2, Q6PGY6, Q6QI44, Q7ZXA8, Q80V31, Q86VS3, Q8BWZ3, Q8C6E0, Q8C9J3, Q8IYW2, Q8K2Z4, Q8LDQ4, Q8LNU5
Diamond homologs: A0A8I6ASZ5, Q8R3L2, Q9BQ70
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| TCF25 | “form complex” | “RQC complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 95 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 |
|---|---|---|---|
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 5 | 57.9× | 4e-06 |
| RHO GTPases activate PKNs | 5 | 27.4× | 1e-04 |
| SARS-CoV-1-host interactions | 5 | 15.2× | 1e-03 |
| Signaling by BRAF and RAF1 fusions | 5 | 14.7× | 1e-03 |
| Apoptosis | 5 | 14.5× | 1e-03 |
| Translocation of SLC2A4 (GLUT4) to the plasma membrane | 5 | 13.3× | 1e-03 |
| Programmed Cell Death | 5 | 12.6× | 1e-03 |
| SARS-CoV-1 Infection | 5 | 12.3× | 1e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cellular response to insulin stimulus | 6 | 12.2× | 4e-03 |
| MAPK cascade | 6 | 10.9× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
167 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 122 |
| Likely benign | 16 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4172 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:89873823:G:T | donor_gain | 1.0000 |
| 16:89873856:GCTG:G | donor_gain | 1.0000 |
| 16:89873858:TGGTG:T | donor_loss | 1.0000 |
| 16:89873859:GGTGA:G | donor_loss | 1.0000 |
| 16:89873860:G:GG | donor_gain | 1.0000 |
| 16:89873860:GT:G | donor_loss | 1.0000 |
| 16:89883442:G:GT | donor_gain | 1.0000 |
| 16:89884578:TTAGT:T | acceptor_loss | 1.0000 |
| 16:89884579:TA:T | acceptor_loss | 1.0000 |
| 16:89884580:A:AG | acceptor_gain | 1.0000 |
| 16:89884580:A:C | acceptor_loss | 1.0000 |
| 16:89884581:G:GG | acceptor_gain | 1.0000 |
| 16:89884581:GT:G | acceptor_gain | 1.0000 |
| 16:89884581:GTCT:G | acceptor_gain | 1.0000 |
| 16:89884581:GTCTC:G | acceptor_gain | 1.0000 |
| 16:89884657:G:GG | donor_gain | 1.0000 |
| 16:89884661:G:GG | donor_gain | 1.0000 |
| 16:89885842:TTTTA:T | acceptor_loss | 1.0000 |
| 16:89885843:TTTA:T | acceptor_loss | 1.0000 |
| 16:89885844:TTAGG:T | acceptor_loss | 1.0000 |
| 16:89885846:A:T | acceptor_loss | 1.0000 |
| 16:89885847:G:T | acceptor_loss | 1.0000 |
| 16:89885940:G:GT | donor_gain | 1.0000 |
| 16:89895988:A:AG | acceptor_gain | 1.0000 |
| 16:89895989:G:GG | acceptor_gain | 1.0000 |
| 16:89896084:G:GC | donor_loss | 1.0000 |
| 16:89896084:G:GG | donor_gain | 1.0000 |
| 16:89898544:A:AG | acceptor_gain | 1.0000 |
| 16:89898548:T:TA | acceptor_gain | 1.0000 |
| 16:89898549:G:A | acceptor_gain | 1.0000 |
AlphaMissense
4439 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:89896083:G:T | R341M | 1.000 |
| 16:89892254:T:A | W226R | 0.999 |
| 16:89892254:T:C | W226R | 0.999 |
| 16:89893817:T:C | F263L | 0.999 |
| 16:89893818:T:C | F263S | 0.999 |
| 16:89893819:C:A | F263L | 0.999 |
| 16:89893819:C:G | F263L | 0.999 |
| 16:89895075:T:C | L289P | 0.999 |
| 16:89895078:T:C | L290P | 0.999 |
| 16:89895084:T:C | L292P | 0.999 |
| 16:89895995:G:C | A312P | 0.999 |
| 16:89896081:C:A | N340K | 0.999 |
| 16:89896081:C:G | N340K | 0.999 |
| 16:89896083:G:C | R341T | 0.999 |
| 16:89898640:T:C | L369P | 0.999 |
| 16:89904996:T:A | W510R | 0.999 |
| 16:89904996:T:C | W510R | 0.999 |
| 16:89906234:C:A | R557S | 0.999 |
| 16:89887675:T:C | L191P | 0.998 |
| 16:89895071:T:C | S288P | 0.998 |
| 16:89895132:T:C | L308P | 0.998 |
| 16:89896059:T:C | L333P | 0.998 |
| 16:89898557:G:C | R341S | 0.998 |
| 16:89898557:G:T | R341S | 0.998 |
| 16:89906235:G:C | R557P | 0.998 |
| 16:89887657:T:C | L185S | 0.997 |
| 16:89887686:T:C | F195L | 0.997 |
| 16:89887688:T:A | F195L | 0.997 |
| 16:89887688:T:G | F195L | 0.997 |
| 16:89893737:T:A | M236K | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000002708 (16:89906280 C>G,T), RS1000041954 (16:89883916 T>C), RS1000059004 (16:89901034 T>C), RS1000073767 (16:89871986 C>G,T), RS1000223486 (16:89888326 G>A), RS1000256623 (16:89911341 C>G,T), RS1000269034 (16:89884108 A>G), RS1000308311 (16:89892591 C>A), RS1000336590 (16:89878709 C>A,G,T), RS1000366104 (16:89876002 A>G,T), RS1000453971 (16:89880031 C>T), RS1000513403 (16:89901199 G>A,C,T), RS1000570100 (16:89897962 G>A,C), RS1000634261 (16:89891550 C>A), RS1000821470 (16:89897026 C>G,T)
Disease associations
OMIM: gene MIM:612326 | 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 |
|---|---|---|
| GCST003996_47 | Monobrow | 7.000000e-14 |
| GCST004611_213 | High light scatter reticulocyte count | 4.000000e-13 |
| GCST004612_203 | High light scatter reticulocyte percentage of red cells | 8.000000e-12 |
| GCST004619_9 | Reticulocyte fraction of red cells | 1.000000e-14 |
| GCST004622_45 | Reticulocyte count | 2.000000e-16 |
| GCST005790_41 | Rosacea symptom severity | 1.000000e-07 |
| GCST006986_17 | Red vs. brown/black hair color | 5.000000e-25 |
| GCST006986_2 | Red vs. brown/black hair color | 3.000000e-13 |
| GCST006986_20 | Red vs. brown/black hair color | 3.000000e-61 |
| GCST006986_23 | Red vs. brown/black hair color | 1.000000e-13 |
| GCST006986_26 | Red vs. brown/black hair color | 5.000000e-10 |
| GCST006988_153 | Blond vs. brown/black hair color | 7.000000e-36 |
| GCST006988_174 | Blond vs. brown/black hair color | 2.000000e-33 |
| GCST006989_45 | Brown vs. black hair color | 3.000000e-18 |
| GCST006989_46 | Brown vs. black hair color | 1.000000e-11 |
| GCST010102_8 | White matter integrity (fractional anisotropy) | 1.000000e-09 |
| GCST010148_22 | Cutaneous squamous cell carcinoma | 6.000000e-87 |
| GCST010703_280 | Brain morphology (MOSTest) | 2.000000e-15 |
| GCST90002385_85 | High light scatter reticulocyte count | 3.000000e-27 |
| GCST90002386_297 | High light scatter reticulocyte percentage of red cells | 2.000000e-24 |
| GCST90002405_322 | Reticulocyte count | 2.000000e-25 |
| GCST90002406_446 | Reticulocyte fraction of red cells | 2.000000e-25 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007906 | synophrys measurement |
| EFO:0007986 | reticulocyte count |
| EFO:0009180 | rosacea severity measurement |
| EFO:0003924 | hair color |
| EFO:0004641 | white matter integrity |
| EFO:1001927 | cutaneous squamous cell carcinoma |
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
54 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, increases expression, affects cotreatment | 3 |
| sodium arsenite | affects cotreatment, increases abundance, increases expression, decreases expression | 3 |
| bisphenol F | increases methylation, decreases expression, affects cotreatment | 2 |
| Air Pollutants | increases oxidation, affects expression, affects cotreatment, increases abundance | 2 |
| Arsenic | affects cotreatment, decreases expression, increases abundance, increases expression | 2 |
| Ozone | increases oxidation, increases abundance, affects expression, affects cotreatment | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, decreases expression | 2 |
| testosterone enanthate | affects expression | 1 |
| methylmercuric chloride | decreases expression, increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| geraniol | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| manganese chloride | decreases expression, increases abundance, affects cotreatment | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| nickel sulfate | increases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| K 7174 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
Cellosaurus cell lines
3 cell lines: 3 embryonic stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_A7D7 | SEES3-1V human TCF25, clone1 | Embryonic stem cell | Male |
| CVCL_A7D8 | SEES3-1V human TCF25, clone2 | Embryonic stem cell | Male |
| CVCL_A7D9 | SEES3-1V human TCF25, clone3 | Embryonic stem cell | Male |
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.