CHRAC1
gene geneOn this page
Also known as CHRAC15YCL1
Summary
CHRAC1 (chromatin accessibility complex subunit 1, HGNC:13544) is a protein-coding gene on chromosome 8q24.3, encoding Chromatin accessibility complex protein 1 (Q9NRG0). Forms a complex with DNA polymerase epsilon subunit POLE3 and binds naked DNA, which is then incorporated into chromatin, aided by the nucleosome remodeling activity of ISWI/SNF2H and ACF1.
CHRAC1 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.
Source: NCBI Gene 54108 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 26 total — 1 pathogenic
- MANE Select transcript:
NM_017444
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13544 |
| Approved symbol | CHRAC1 |
| Name | chromatin accessibility complex subunit 1 |
| Location | 8q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CHRAC15, YCL1 |
| Ensembl gene | ENSG00000104472 |
| Ensembl biotype | protein_coding |
| OMIM | 607268 |
| Entrez | 54108 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 5 protein_coding, 1 retained_intron
ENST00000220913, ENST00000518971, ENST00000519533, ENST00000519618, ENST00000523569, ENST00000970390
RefSeq mRNA: 1 — MANE Select: NM_017444
NM_017444
CCDS: CCDS6379
Canonical transcript exons
ENST00000220913 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000704277 | 140514369 | 140514495 |
| ENSE00001231189 | 140515126 | 140517154 |
| ENSE00002092195 | 140511322 | 140511646 |
Expression profiles
Bgee: expression breadth ubiquitous, 216 present calls, max score 91.30.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.8854 / max 197.4026, expressed in 1820 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 91263 | 14.4165 | 1798 |
| 91265 | 10.0771 | 1775 |
| 91266 | 4.1299 | 1499 |
| 91269 | 2.0780 | 842 |
| 91267 | 2.0533 | 1079 |
| 91268 | 1.0883 | 672 |
| 91264 | 0.8610 | 571 |
| 91270 | 0.1814 | 56 |
Top tissues by expression
245 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| epithelial cell of pancreas | CL:0000083 | 91.30 | gold quality |
| monocyte | CL:0000576 | 91.05 | gold quality |
| tibial artery | UBERON:0007610 | 90.99 | gold quality |
| popliteal artery | UBERON:0002250 | 90.98 | gold quality |
| leukocyte | CL:0000738 | 90.90 | gold quality |
| muscle of leg | UBERON:0001383 | 90.82 | gold quality |
| gastrocnemius | UBERON:0001388 | 90.79 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 90.64 | gold quality |
| tibialis anterior | UBERON:0001385 | 89.94 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 89.91 | gold quality |
| ileal mucosa | UBERON:0000331 | 89.84 | gold quality |
| aorta | UBERON:0000947 | 89.79 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 89.41 | gold quality |
| lower esophagus | UBERON:0013473 | 89.40 | gold quality |
| right coronary artery | UBERON:0001625 | 89.29 | gold quality |
| islet of Langerhans | UBERON:0000006 | 89.22 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 89.17 | gold quality |
| rectum | UBERON:0001052 | 89.13 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 89.04 | gold quality |
| left coronary artery | UBERON:0001626 | 88.83 | gold quality |
| mucosa of stomach | UBERON:0001199 | 88.79 | gold quality |
| thoracic aorta | UBERON:0001515 | 88.60 | gold quality |
| vermiform appendix | UBERON:0001154 | 88.52 | gold quality |
| ascending aorta | UBERON:0001496 | 88.37 | gold quality |
| gall bladder | UBERON:0002110 | 88.25 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 88.08 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 87.77 | gold quality |
| esophagus | UBERON:0001043 | 87.73 | gold quality |
| coronary artery | UBERON:0001621 | 87.40 | gold quality |
| calcaneal tendon | UBERON:0003701 | 87.15 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
78 targeting CHRAC1, 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-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-12121 | 99.99 | 66.64 | 255 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-8087 | 99.90 | 69.55 | 1351 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-9902 | 99.89 | 69.15 | 2250 |
| HSA-MIR-7845-5P | 99.88 | 64.88 | 771 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
Literature-anchored findings (GeneRIF, showing 3)
- -RAD21 and EIF3H, both on chromosome 8q23, CHRAC1 on chromosome 8q24.3 and TANC2 on chromosome 17q23-were confirmed to be driver genes regulating the proliferation/survival of clonogenic breast cancer cells (PMID:24148822)
- CHRAC1 promotes human lung cancer growth through regulating YAP transcriptional activity. (PMID:34718437)
- Chromatin accessibility complex subunit 1 enhances tumor growth by regulating the oncogenic transcription of YAP in breast and cervical cancer. (PMID:38223760)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Chrac1 | ENSMUSG00000068391 |
| rattus_norvegicus | ENSRNOG00000087692 |
Protein
Protein identifiers
Chromatin accessibility complex protein 1 — Q9NRG0 (reviewed: Q9NRG0)
Alternative names: Chromatin accessibility complex 15 kDa protein, DNA polymerase epsilon subunit p15
All UniProt accessions (4): Q9NRG0, E5RGS9, H0YBP8, H0YBX4
UniProt curated annotations — full annotation on UniProt →
Function. Forms a complex with DNA polymerase epsilon subunit POLE3 and binds naked DNA, which is then incorporated into chromatin, aided by the nucleosome remodeling activity of ISWI/SNF2H and ACF1. Does not enhance nucleosome sliding activity of the ACF-5 ISWI chromatin remodeling complex.
Subunit / interactions. Heterodimer with POLE3; binds to DNA. Component of the CHRAC ISWI chromatin remodeling complex at least composed of SMARCA5/SNF2H, BAZ1A/ACF1, CHRAC1 and POLE3; the complex preferentially binds DNA through the CHRAC1-POLE3 heterodimer and possesses ATP-dependent nucleosome-remodeling activity. Within the complex, the heterodimer with POLE3 interacts with SMARCA5/SNF2H; the interaction is direct and enhances nucleosome sliding activity by the SMARCA5/SNF2H and BAZ1A/ACF1 interaction. Within the complex, the heterodimer with POLE3 interacts with BAZ1A/ACF1; the interactions are direct.
Subcellular location. Nucleus.
Tissue specificity. Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
RefSeq proteins (1): NP_059140* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003958 | CBFA_NFYB_domain | Domain |
| IPR009072 | Histone-fold | Homologous_superfamily |
| IPR050568 | Transcr_DNA_Rep_Reg | Family |
Pfam: PF00808
UniProt features (10 total): modified residue 3, sequence variant 2, initiator methionine 1, chain 1, region of interest 1, coiled-coil region 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NRG0-F1 | 85.85 | 0.71 |
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): 2, 102, 124
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 111 (showing top):
PAL_PRMT5_TARGETS_UP, GOMF_DNA_POLYMERASE_ACTIVITY, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, GOBP_DNA_BIOSYNTHETIC_PROCESS, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, FISCHER_DREAM_TARGETS, GOBP_PROTEIN_DNA_COMPLEX_ORGANIZATION, GOBP_CHROMATIN_REMODELING, GOBP_DNA_REPLICATION, GOCC_TRANSFERASE_COMPLEX_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS, GOCC_DNA_POLYMERASE_COMPLEX, GOCC_CHROMOSOMAL_REGION, GOCC_TRANSFERASE_COMPLEX, GOCC_PERICENTRIC_HETEROCHROMATIN, GOCC_ATPASE_COMPLEX
GO Biological Process (5): DNA-templated DNA replication (GO:0006261), regulation of DNA replication (GO:0006275), nucleosome assembly (GO:0006334), chromatin remodeling (GO:0006338), DNA biosynthetic process (GO:0071897)
GO Molecular Function (6): DNA binding (GO:0003677), DNA-directed DNA polymerase activity (GO:0003887), protein heterodimerization activity (GO:0046982), protein binding (GO:0005515), transferase activity (GO:0016740), nucleotidyltransferase activity (GO:0016779)
GO Cellular Component (4): nucleus (GO:0005634), pericentric heterochromatin (GO:0005721), epsilon DNA polymerase complex (GO:0008622), CHRAC (GO:0008623)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA replication | 2 |
| chromatin organization | 2 |
| regulation of DNA metabolic process | 1 |
| nucleosome organization | 1 |
| protein-DNA complex assembly | 1 |
| DNA metabolic process | 1 |
| nucleic acid biosynthetic process | 1 |
| nucleic acid binding | 1 |
| DNA polymerase activity | 1 |
| protein dimerization activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| transferase activity, transferring phosphorus-containing groups | 1 |
| intracellular membrane-bounded organelle | 1 |
| chromosome, centromeric region | 1 |
| heterochromatin | 1 |
| nuclear chromosome | 1 |
| DNA polymerase complex | 1 |
| nuclear protein-containing complex | 1 |
| ISWI-type complex | 1 |
Protein interactions and networks
STRING
706 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CHRAC1 | POLE3 | Q9NRF9 | 998 |
| CHRAC1 | BAZ1A | Q9NRL2 | 991 |
| CHRAC1 | SMARCA5 | O60264 | 963 |
| CHRAC1 | SMARCA1 | P28370 | 912 |
| CHRAC1 | RSF1 | Q96T23 | 763 |
| CHRAC1 | BAZ1B | Q9UIG0 | 714 |
| CHRAC1 | NFYB | P25208 | 702 |
| CHRAC1 | WASHC5 | Q12768 | 684 |
| CHRAC1 | TRAPPC9 | Q96Q05 | 667 |
| CHRAC1 | POLE2 | P56282 | 644 |
| CHRAC1 | BAZ2A | Q9UIF9 | 598 |
| CHRAC1 | DR1 | Q01658 | 565 |
| CHRAC1 | POLE | Q07864 | 564 |
| CHRAC1 | H2AC19 | P20670 | 552 |
| CHRAC1 | H2AC20 | Q16777 | 552 |
IntAct
52 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| POLE3 | CHRAC1 | psi-mi:“MI:0915”(physical association) | 0.830 |
| CHRAC1 | POLE3 | psi-mi:“MI:0915”(physical association) | 0.830 |
| FAM9B | CHRAC1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| CHRAC1 | FAM9B | psi-mi:“MI:0915”(physical association) | 0.780 |
| CAPN6 | UBA6 | psi-mi:“MI:0914”(association) | 0.530 |
| FSD1 | UBFD1 | psi-mi:“MI:0914”(association) | 0.530 |
| TAS2R41 | YKT6 | psi-mi:“MI:0914”(association) | 0.530 |
| PJA1 | SMC5 | psi-mi:“MI:0914”(association) | 0.530 |
| SMARCA5 | RBBP4 | psi-mi:“MI:0914”(association) | 0.530 |
| LRRTM4 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| POLE3 | SMARCA5 | psi-mi:“MI:0914”(association) | 0.530 |
| CHRAC1 | ACTC1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| BAZ1A | CHRAC1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| MCF2L2 | CDK6 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC35G2 | DDX23 | psi-mi:“MI:0914”(association) | 0.350 |
| ARID1A | psi-mi:“MI:0914”(association) | 0.350 | |
| H2AZ1 | SUPT5H | psi-mi:“MI:0914”(association) | 0.350 |
| H2BC21 | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| HMGA1 | SUPT5H | psi-mi:“MI:0914”(association) | 0.350 |
| HMGN5 | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (123): CHRAC1 (Two-hybrid), FAM9B (Two-hybrid), CHRAC1 (Co-fractionation), POLE3 (Co-fractionation), CHRAC1 (Two-hybrid), CHRAC1 (Affinity Capture-MS), CHRAC1 (Affinity Capture-MS), CHRAC1 (Affinity Capture-MS), CHRAC1 (Affinity Capture-MS), CHRAC1 (Affinity Capture-MS), CHRAC1 (Affinity Capture-MS), CHRAC1 (Affinity Capture-MS), TRAPPC13 (Negative Genetic), NPRL3 (Negative Genetic), VPS51 (Negative Genetic)
ESM2 similar proteins: A3QVV1, A8MT69, B0X2G0, B3M123, B3MJ61, B3P239, B4GDU3, B4I3S1, B4JGX4, B4KBI4, B4LZ60, B4NJR8, B4PUG5, B4QVL3, C6Y4D0, G2TRL2, O60076, O74807, O74896, O75843, O88796, P06353, P0DJH7, P36611, P78346, Q295I4, Q2KNB4, Q2KNB7, Q2KNB9, Q2NKU0, Q3E829, Q3E835, Q42525, Q54CN8, Q5E9L5, Q5RBU1, Q6NZB1, Q6P9U3, Q7QD36, Q7ZW33
Diamond homologs: A0JPP1, A6BLW4, A6QQ14, B0XTT5, C6Y4D0, O17072, P40096, P70353, P79007, Q02516, Q10315, Q13952, Q14919, Q2YDP3, Q4PSE2, Q4X095, Q54DA1, Q557I1, Q58CM8, Q5E9X1, Q5RA23, Q62725, Q655V5, Q6BX14, Q6C6M5, Q6CLM5, Q8L4B2, Q8LCG7, Q9CQ36, Q9D6N5, Q9FGP6, Q9FGP7, Q9FGP8, Q9FMV5, Q9JKP8, Q9NR33, Q9NRG0, Q9SMP0, Q9W256, Q9XE33
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 48 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| heterochromatin formation | 7 | 41.6× | 1e-07 |
| nucleosome assembly | 6 | 19.6× | 1e-04 |
| chromatin remodeling | 7 | 11.9× | 3e-04 |
| chromatin organization | 5 | 11.5× | 4e-03 |
| DNA damage response | 7 | 8.7× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
26 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 16 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 686106 | GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 | Pathogenic |
SpliceAI
479 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:140511617:G:GT | donor_gain | 1.0000 |
| 8:140511619:GGC:G | donor_gain | 0.9900 |
| 8:140511620:GCG:G | donor_gain | 0.9900 |
| 8:140511644:ACGG:A | donor_loss | 0.9900 |
| 8:140511647:G:GA | donor_loss | 0.9900 |
| 8:140511647:G:GG | donor_gain | 0.9900 |
| 8:140511648:T:A | donor_loss | 0.9900 |
| 8:140514429:A:T | donor_gain | 0.9900 |
| 8:140514491:TGCAG:T | donor_loss | 0.9900 |
| 8:140514493:CAGGT:C | donor_loss | 0.9900 |
| 8:140514494:AGGT:A | donor_loss | 0.9900 |
| 8:140514495:G:GA | donor_loss | 0.9900 |
| 8:140514496:GTA:G | donor_loss | 0.9900 |
| 8:140514497:T:G | donor_loss | 0.9900 |
| 8:140515124:A:G | acceptor_gain | 0.9900 |
| 8:140512417:G:GT | donor_gain | 0.9800 |
| 8:140514368:GGA:G | acceptor_gain | 0.9800 |
| 8:140511601:GTCC:G | donor_gain | 0.9700 |
| 8:140511617:GAGGC:G | donor_gain | 0.9700 |
| 8:140514363:TTCTA:T | acceptor_loss | 0.9700 |
| 8:140514364:TCTA:T | acceptor_loss | 0.9700 |
| 8:140514365:CTA:C | acceptor_loss | 0.9700 |
| 8:140515125:G:GG | acceptor_gain | 0.9700 |
| 8:140515125:GAT:G | acceptor_gain | 0.9700 |
| 8:140511627:TGCTC:T | donor_gain | 0.9600 |
| 8:140511629:C:CG | donor_gain | 0.9600 |
| 8:140514367:A:AG | acceptor_gain | 0.9600 |
| 8:140514368:G:GG | acceptor_gain | 0.9600 |
| 8:140512427:GAACT:G | donor_gain | 0.9400 |
| 8:140514361:T:A | acceptor_loss | 0.9400 |
AlphaMissense
865 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:140511641:G:C | A48P | 0.999 |
| 8:140511642:C:A | A48D | 0.999 |
| 8:140514379:T:A | V53D | 0.999 |
| 8:140514486:T:C | F89L | 0.999 |
| 8:140514488:T:A | F89L | 0.999 |
| 8:140514488:T:G | F89L | 0.999 |
| 8:140511579:T:A | I27N | 0.998 |
| 8:140511635:G:C | A46P | 0.998 |
| 8:140514390:G:C | A57P | 0.998 |
| 8:140514391:C:A | A57D | 0.998 |
| 8:140514487:T:C | F89S | 0.998 |
| 8:140515134:C:T | P95S | 0.998 |
| 8:140515150:C:A | A100D | 0.998 |
| 8:140511582:T:A | M28K | 0.997 |
| 8:140511636:C:A | A46D | 0.997 |
| 8:140514490:T:A | L90H | 0.997 |
| 8:140515134:C:A | P95T | 0.997 |
| 8:140515135:C:A | P95Q | 0.997 |
| 8:140511566:C:A | R23S | 0.996 |
| 8:140511579:T:C | I27T | 0.996 |
| 8:140511579:T:G | I27S | 0.996 |
| 8:140511582:T:C | M28T | 0.996 |
| 8:140511582:T:G | M28R | 0.996 |
| 8:140511630:T:C | L44P | 0.996 |
| 8:140514388:T:C | L56P | 0.996 |
| 8:140514451:T:C | L77S | 0.996 |
| 8:140514490:T:C | L90P | 0.996 |
| 8:140515132:T:C | L94S | 0.996 |
| 8:140515134:C:G | P95A | 0.996 |
| 8:140515135:C:T | P95L | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000079419 (8:140512063 C>G,T), RS1000404144 (8:140510526 C>T), RS1000414246 (8:140510264 G>A), RS1000536307 (8:140511879 C>G,T), RS1001281777 (8:140515946 A>G), RS1001387539 (8:140511371 T>A,C,G), RS1001521946 (8:140512996 T>A), RS1001733049 (8:140515646 T>C), RS1002314683 (8:140516999 G>A), RS1002390423 (8:140512171 C>A,G,T), RS1002537759 (8:140510876 C>G), RS1002596529 (8:140510724 GA>G,GAA), RS1002627975 (8:140517417 T>G), RS1003452306 (8:140512989 G>T), RS1003535321 (8:140515241 C>T)
Disease associations
OMIM: gene MIM:607268 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006944_8 | Experiencing mood swings | 1.000000e-10 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008475 | mood instability measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cisplatin | affects expression, affects cotreatment, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | decreases expression | 1 |
| trichostatin A | affects expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| (+)-JQ1 compound | 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 | decreases expression | 1 |
| Decitabine | affects expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Doxorubicin | decreases expression | 1 |
| Ketoconazole | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| Sodium Selenite | increases expression | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
| Copper Sulfate | 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.