INO80C
gene geneOn this page
Also known as FLJ38183hIes6IES6
Summary
INO80C (INO80 complex subunit C, HGNC:26994) is a protein-coding gene on chromosome 18q12.2, encoding INO80 complex subunit C (Q6PI98). Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.
Involved in several processes, including chromatin remodeling; regulation of chromosome organization; and regulation of nucleobase-containing compound metabolic process. Located in cytosol; fibrillar center; and nucleoplasm. Part of Ino80 complex and MLL1 complex.
Source: NCBI Gene 125476 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 52 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_194281
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26994 |
| Approved symbol | INO80C |
| Name | INO80 complex subunit C |
| Location | 18q12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ38183, hIes6, IES6 |
| Ensembl gene | ENSG00000153391 |
| Ensembl biotype | protein_coding |
| Entrez | 125476 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 12 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay
ENST00000283410, ENST00000334598, ENST00000441607, ENST00000585971, ENST00000586449, ENST00000586489, ENST00000587450, ENST00000589053, ENST00000589273, ENST00000590757, ENST00000591139, ENST00000592173, ENST00000934274, ENST00000934275, ENST00000934276, ENST00000934277
RefSeq mRNA: 3 — MANE Select: NM_194281
NM_001098817, NM_001308064, NM_194281
CCDS: CCDS11914, CCDS45853, CCDS77177
Canonical transcript exons
ENST00000334598 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002859403 | 35468333 | 35468742 |
| ENSE00003171906 | 35479300 | 35479411 |
| ENSE00003461422 | 35497719 | 35497960 |
| ENSE00003473299 | 35478282 | 35478349 |
| ENSE00003584990 | 35480453 | 35480563 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 97.58.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.3250 / max 102.8474, expressed in 1786 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 171660 | 8.0706 | 1779 |
| 171659 | 0.5856 | 267 |
| 171662 | 0.5426 | 282 |
| 171661 | 0.1262 | 36 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left testis | UBERON:0004533 | 97.58 | gold quality |
| right testis | UBERON:0004534 | 97.31 | gold quality |
| testis | UBERON:0000473 | 95.90 | gold quality |
| amniotic fluid | UBERON:0000173 | 95.70 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 95.70 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 95.36 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 95.00 | gold quality |
| esophagus mucosa | UBERON:0002469 | 94.34 | gold quality |
| buccal mucosa cell | CL:0002336 | 93.65 | gold quality |
| adult organism | UBERON:0007023 | 92.97 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 92.91 | silver quality |
| ileal mucosa | UBERON:0000331 | 92.83 | gold quality |
| skin of abdomen | UBERON:0001416 | 92.13 | gold quality |
| adenohypophysis | UBERON:0002196 | 92.08 | gold quality |
| pituitary gland | UBERON:0000007 | 92.07 | gold quality |
| oral cavity | UBERON:0000167 | 91.90 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 91.73 | gold quality |
| sperm | CL:0000019 | 91.55 | gold quality |
| spleen | UBERON:0002106 | 91.39 | gold quality |
| mucosa of stomach | UBERON:0001199 | 91.22 | gold quality |
| esophagus | UBERON:0001043 | 90.74 | gold quality |
| body of stomach | UBERON:0001161 | 90.65 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 90.59 | silver quality |
| zone of skin | UBERON:0000014 | 90.53 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 90.52 | gold quality |
| skin of leg | UBERON:0001511 | 90.44 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 90.39 | silver quality |
| monocyte | CL:0000576 | 90.24 | gold quality |
| placenta | UBERON:0001987 | 90.15 | gold quality |
| granulocyte | CL:0000094 | 90.09 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.71 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
26 targeting INO80C, 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-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-494-3P | 99.70 | 71.45 | 2795 |
| HSA-MIR-1249-5P | 99.61 | 66.55 | 2049 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-1252-3P | 99.55 | 67.71 | 2862 |
| HSA-MIR-32-3P | 99.36 | 68.20 | 2517 |
| HSA-MIR-3614-5P | 99.30 | 65.25 | 837 |
| HSA-MIR-4291 | 99.20 | 68.88 | 2969 |
| HSA-MIR-196A-3P | 99.19 | 67.34 | 1204 |
| HSA-MIR-548AS-3P | 99.12 | 69.12 | 2294 |
| HSA-MIR-922 | 99.02 | 67.23 | 1838 |
| HSA-MIR-3619-5P | 99.00 | 68.87 | 2308 |
| HSA-MIR-214-3P | 98.71 | 68.12 | 2128 |
| HSA-MIR-761 | 98.71 | 68.07 | 2051 |
| HSA-MIR-603 | 98.58 | 68.28 | 1603 |
| HSA-MIR-216B-3P | 98.55 | 67.19 | 1223 |
| HSA-MIR-6515-5P | 97.08 | 65.48 | 1219 |
| HSA-MIR-584-5P | 95.82 | 68.05 | 848 |
Literature-anchored findings (GeneRIF, showing 2)
- C18orf37, similar in sequence to yeast Ies6p. A subunit of the Ino80 chromatin remodeling complex, which has roles in transcription and DNA repair. (PMID:16230350)
- Data indicate metabolic enzymes NAD kinase and ketohexokinase as candidate metabolic gene targets, and the chromatin remodeling protein INO80C as a tumor suppressor in KRAS(MUT) colorectal tumor xenograft. (PMID:28954733)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ino80c | ENSDARG00000055719 |
| mus_musculus | Ino80c | ENSMUSG00000047989 |
| rattus_norvegicus | Ino80c | ENSRNOG00000016532 |
| drosophila_melanogaster | CG12659 | FBGN0040929 |
Protein
Protein identifiers
INO80 complex subunit C — Q6PI98 (reviewed: Q6PI98)
Alternative names: IES6 homolog
All UniProt accessions (7): Q6PI98, K7EIY8, K7EKI6, K7ELX9, K7ENM4, K7EQ79, M0R3E2
UniProt curated annotations — full annotation on UniProt →
Function. Proposed core component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and probably DNA repair.
Subunit / interactions. Component of the chromatin remodeling INO80 complex; specifically part of a complex module associated with the helicase ATP-binding and the helicase C-terminal domain of INO80. Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BACC1, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, MYST1/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10.
Subcellular location. Nucleus.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6PI98-1 | 1 | yes |
| Q6PI98-3 | 2 | |
| Q6PI98-4 | 3 |
RefSeq proteins (3): NP_001092287, NP_001294993, NP_919257* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR013272 | Vps72/YL1_C | Domain |
| IPR029525 | INO80C/Ies6 | Family |
Pfam: PF08265
UniProt features (5 total): splice variant 2, chain 1, region of interest 1, sequence conflict 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7ZI4 | ELECTRON MICROSCOPY | 3.2 |
| 9GE5 | ELECTRON MICROSCOPY | 3.35 |
| 9GCG | ELECTRON MICROSCOPY | 3.43 |
| 9GEV | ELECTRON MICROSCOPY | 3.47 |
| 9GFB | ELECTRON MICROSCOPY | 3.55 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6PI98-F1 | 71.46 | 0.32 |
Function
Pathways and Gene Ontology
Reactome pathways
8 pathways
| ID | Pathway |
|---|---|
| R-HSA-5689603 | UCH proteinases |
| R-HSA-5696394 | DNA Damage Recognition in GG-NER |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-5688426 | Deubiquitination |
| R-HSA-5696398 | Nucleotide Excision Repair |
| R-HSA-5696399 | Global Genome Nucleotide Excision Repair (GG-NER) |
| R-HSA-597592 | Post-translational protein modification |
| R-HSA-73894 | DNA Repair |
MSigDB gene sets: 160 (showing top):
GOBP_CHROMOSOME_ORGANIZATION, GOBP_TELOMERE_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, BILD_SRC_ONCOGENIC_SIGNATURE, GOBP_REGULATION_OF_DNA_REPAIR, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_REGULATION_OF_TELOMERE_MAINTENANCE, chr18q12, BILD_E2F3_ONCOGENIC_SIGNATURE, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_DNA_STRAND_ELONGATION, GOBP_DNA_DAMAGE_RESPONSE, GOBP_POSITIVE_REGULATION_OF_DNA_REPAIR, GOBP_POSITIVE_REGULATION_OF_TELOMERE_MAINTENANCE
GO Biological Process (14): telomere maintenance (GO:0000723), regulation of DNA replication (GO:0006275), DNA repair (GO:0006281), regulation of DNA repair (GO:0006282), DNA recombination (GO:0006310), chromatin remodeling (GO:0006338), regulation of chromosome organization (GO:0033044), positive regulation of DNA repair (GO:0045739), positive regulation of DNA-templated transcription (GO:0045893), regulation of embryonic development (GO:0045995), regulation of cell cycle (GO:0051726), regulation of DNA strand elongation (GO:0060382), positive regulation of telomere maintenance in response to DNA damage (GO:1904507), DNA damage response (GO:0006974)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (6): fibrillar center (GO:0001650), nucleoplasm (GO:0005654), cytosol (GO:0005829), Ino80 complex (GO:0031011), MLL1 complex (GO:0071339), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| Deubiquitination | 1 |
| Global Genome Nucleotide Excision Repair (GG-NER) | 1 |
| Post-translational protein modification | 1 |
| DNA Repair | 1 |
| Nucleotide Excision Repair | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA metabolic process | 3 |
| regulation of DNA metabolic process | 3 |
| cellular anatomical structure | 3 |
| DNA repair | 2 |
| positive regulation of response to stimulus | 2 |
| telomere organization | 1 |
| DNA replication | 1 |
| DNA damage response | 1 |
| regulation of cellular response to stress | 1 |
| chromatin organization | 1 |
| regulation of organelle organization | 1 |
| chromosome organization | 1 |
| regulation of DNA repair | 1 |
| positive regulation of DNA metabolic process | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| embryo development | 1 |
| regulation of multicellular organismal development | 1 |
| cell cycle | 1 |
| regulation of cellular process | 1 |
| DNA strand elongation | 1 |
| positive regulation of telomere maintenance | 1 |
| telomere maintenance in response to DNA damage | 1 |
| regulation of telomere maintenance in response to DNA damage | 1 |
| cellular response to stress | 1 |
| binding | 1 |
| nucleolus | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| nuclear chromosome | 1 |
| INO80-type complex | 1 |
| MLL1/2 complex | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
950 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| INO80C | RUVBL1 | P82276 | 971 |
| INO80C | RUVBL2 | Q9Y230 | 967 |
| INO80C | INO80B | Q9C086 | 915 |
| INO80C | ACTR5 | Q9H9F9 | 833 |
| INO80C | ACTR8 | Q9H981 | 744 |
| INO80C | SMARCA2 | P51531 | 704 |
| INO80C | INO80 | Q9ULG1 | 666 |
| INO80C | SMARCA4 | P51532 | 651 |
| INO80C | H2AZ1 | P0C0S5 | 631 |
| INO80C | VPS72 | Q15906 | 614 |
| INO80C | ACTL6A | O96019 | 603 |
| INO80C | INO80E | Q8NBZ0 | 545 |
| INO80C | SRCAP | Q6ZRS2 | 527 |
| INO80C | CHD1 | O14646 | 518 |
| INO80C | KAT5 | Q92993 | 491 |
IntAct
55 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| INO80E | YY1 | psi-mi:“MI:0914”(association) | 0.900 |
| RUVBL1 | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.860 |
| UCHL5 | PSMD11 | psi-mi:“MI:0914”(association) | 0.840 |
| UCHL5 | PSMD12 | psi-mi:“MI:0914”(association) | 0.840 |
| YY1 | ACTL6A | psi-mi:“MI:0914”(association) | 0.830 |
| INO80E | TFPT | psi-mi:“MI:0914”(association) | 0.790 |
| INO80C | YY1 | psi-mi:“MI:0914”(association) | 0.740 |
| ACTR5 | INO80C | psi-mi:“MI:0915”(physical association) | 0.670 |
| RUVBL2 | POLR3A | psi-mi:“MI:0914”(association) | 0.640 |
| RUVBL1 | POLR3A | psi-mi:“MI:0914”(association) | 0.640 |
| INO80E | ACTL6A | psi-mi:“MI:0914”(association) | 0.640 |
| BCL7C | ARID1A | psi-mi:“MI:0914”(association) | 0.640 |
| YY1AP1 | YY1 | psi-mi:“MI:0914”(association) | 0.630 |
| YY1 | YY2 | psi-mi:“MI:0914”(association) | 0.570 |
| INO80C | SERPINH1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| INO80C | TGFBR2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| WBP2NL | OTUD4 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (86): INO80C (Affinity Capture-MS), INO80C (Affinity Capture-MS), INO80C (Affinity Capture-MS), INO80C (Affinity Capture-MS), INO80C (Affinity Capture-MS), INO80C (Affinity Capture-MS), INO80C (Affinity Capture-MS), INO80C (Affinity Capture-MS), INO80C (Affinity Capture-MS), INO80C (Affinity Capture-MS), INO80C (Affinity Capture-MS), INO80C (Affinity Capture-MS), INO80C (Affinity Capture-MS), INTS9 (Negative Genetic), INO80C (Positive Genetic)
ESM2 similar proteins: A0JPP1, B2GV05, B2RXH8, B7ZW38, G3V9R8, O60812, O77768, P07910, P0DMR1, P19600, P23588, P37285, P52756, P59326, P97379, P97855, Q08BA6, Q08BJ2, Q08DJ0, Q0IIC4, Q0VCZ3, Q0VFL7, Q13283, Q14919, Q1RMU5, Q2YDP3, Q32LC7, Q4R5D9, Q5BJY3, Q5R9L3, Q5RA82, Q5RB87, Q5VWX1, Q64012, Q6PI98, Q86SE5, Q8BGD9, Q8BHA0, Q8BTF8, Q91YE7
Diamond homologs: P32617, Q5BJY3, Q6PI98, Q8BHA0, Q8RWS0, Q9UTE8
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| INO80C | “form complex” | “INO80 complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 44 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 |
|---|---|---|---|
| Global Genome Nucleotide Excision Repair (GG-NER) | 10 | 157.5× | 7e-19 |
| Formation of the canonical BAF (cBAF) complex | 6 | 131.3× | 1e-10 |
| DNA Damage Recognition in GG-NER | 11 | 108.3× | 7e-19 |
| Formation of the embryonic stem cell BAF (esBAF) complex | 5 | 103.6× | 3e-08 |
| Nucleotide Excision Repair | 10 | 98.5× | 1e-16 |
| Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF) | 6 | 94.5× | 1e-09 |
| UCH proteinases | 15 | 64.2× | 2e-22 |
| Regulation of endogenous retroelements | 5 | 63.5× | 3e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| positive regulation of telomere maintenance in response to DNA damage | 12 | 337.0× | 6e-28 |
| regulation of DNA strand elongation | 12 | 316.0× | 1e-27 |
| regulation of chromosome organization | 12 | 280.9× | 8e-27 |
| positive regulation of DNA repair | 13 | 116.5× | 6e-23 |
| regulation of DNA replication | 12 | 109.9× | 6e-21 |
| regulation of embryonic development | 13 | 107.4× | 2e-22 |
| regulation of G0 to G1 transition | 6 | 101.1× | 4e-10 |
| DNA recombination | 11 | 92.7× | 2e-18 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
52 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 38 |
| Likely benign | 3 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1228 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 18:35468634:T:TA | donor_gain | 1.0000 |
| 18:35478280:A:AC | donor_gain | 1.0000 |
| 18:35478281:C:CC | donor_gain | 1.0000 |
| 18:35478350:C:CC | acceptor_gain | 1.0000 |
| 18:35479431:T:TC | acceptor_gain | 1.0000 |
| 18:35480563:CCT:C | acceptor_gain | 1.0000 |
| 18:35497715:GTAC:G | donor_loss | 1.0000 |
| 18:35497716:TACCT:T | donor_loss | 1.0000 |
| 18:35497717:A:C | donor_loss | 1.0000 |
| 18:35497755:A:AC | donor_gain | 1.0000 |
| 18:35497756:C:CC | donor_gain | 1.0000 |
| 18:35468586:T:A | donor_gain | 0.9900 |
| 18:35468598:C:CA | donor_gain | 0.9900 |
| 18:35468740:GGCC:G | acceptor_loss | 0.9900 |
| 18:35468741:GCCT:G | acceptor_loss | 0.9900 |
| 18:35468743:C:CA | acceptor_loss | 0.9900 |
| 18:35468743:C:CC | acceptor_gain | 0.9900 |
| 18:35468744:T:C | acceptor_loss | 0.9900 |
| 18:35478274:ATAC:A | donor_loss | 0.9900 |
| 18:35478274:ATACT:A | donor_loss | 0.9900 |
| 18:35478275:TACT:T | donor_loss | 0.9900 |
| 18:35478276:AC:A | donor_loss | 0.9900 |
| 18:35478277:C:CA | donor_loss | 0.9900 |
| 18:35478278:T:TC | donor_loss | 0.9900 |
| 18:35478278:T:TG | donor_loss | 0.9900 |
| 18:35478279:CAC:C | donor_loss | 0.9900 |
| 18:35478279:CACA:C | donor_loss | 0.9900 |
| 18:35478280:A:T | donor_loss | 0.9900 |
| 18:35478280:AC:A | donor_loss | 0.9900 |
| 18:35478281:C:CA | donor_loss | 0.9900 |
AlphaMissense
1265 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 18:35468635:C:A | R185S | 1.000 |
| 18:35468635:C:G | R185S | 1.000 |
| 18:35468636:C:A | R185M | 1.000 |
| 18:35468636:C:G | R185T | 1.000 |
| 18:35468639:A:G | L184P | 1.000 |
| 18:35468645:A:G | L182P | 1.000 |
| 18:35468672:A:G | L173P | 1.000 |
| 18:35468689:A:C | F167L | 1.000 |
| 18:35468689:A:T | F167L | 1.000 |
| 18:35468691:A:G | F167L | 1.000 |
| 18:35468707:G:C | F161L | 1.000 |
| 18:35468707:G:T | F161L | 1.000 |
| 18:35468708:A:G | F161S | 1.000 |
| 18:35468709:A:G | F161L | 1.000 |
| 18:35468711:C:G | R160P | 1.000 |
| 18:35468714:A:G | L159P | 1.000 |
| 18:35468729:T:C | D154G | 1.000 |
| 18:35478289:C:A | G147V | 1.000 |
| 18:35478289:C:T | G147D | 1.000 |
| 18:35478290:C:G | G147R | 1.000 |
| 18:35478298:T:A | D144V | 1.000 |
| 18:35478298:T:C | D144G | 1.000 |
| 18:35478298:T:G | D144A | 1.000 |
| 18:35478299:C:A | D144Y | 1.000 |
| 18:35478299:C:G | D144H | 1.000 |
| 18:35478301:G:A | S143F | 1.000 |
| 18:35478301:G:T | S143Y | 1.000 |
| 18:35478302:A:G | S143P | 1.000 |
| 18:35478305:A:C | Y142D | 1.000 |
| 18:35479356:A:G | L108P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000004294 (18:35474139 T>C), RS1000016143 (18:35473654 T>A), RS1000028025 (18:35498787 A>G), RS1000098530 (18:35473710 C>G), RS1000257090 (18:35498513 C>G), RS1000288200 (18:35498180 G>A), RS1000507686 (18:35482921 T>C), RS1000534959 (18:35494250 C>G,T), RS1000578351 (18:35474983 G>A), RS1000594590 (18:35499790 G>A), RS1000600309 (18:35492714 C>T), RS1000626943 (18:35499503 A>G), RS1000664830 (18:35488692 C>T), RS1000716633 (18:35488456 T>C), RS1000870332 (18:35468317 AT>A)
Disease associations
OMIM: gene `` | 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 |
|---|---|---|
| GCST003059_21 | Parkinson’s disease | 1.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5724656 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
1 potent at pChembl≥5 of 1 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.00 | IC50 | 100 | nM | MOLIBRESIB |
PubChem BioAssay actives
1 with measured affinity, of 6 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2178829: Inhibition of INO80C (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | ic50 | 0.1000 | uM |
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 3 |
| bisphenol A | affects cotreatment, increases methylation, increases expression | 2 |
| Benzo(a)pyrene | increases expression, increases methylation | 2 |
| Cyclosporine | decreases expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| quercitrin | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | affects expression | 1 |
| isobutyl alcohol | decreases expression, increases abundance, affects cotreatment | 1 |
| K 7174 | increases expression | 1 |
| abrine | increases expression | 1 |
| Fulvestrant | increases methylation, affects cotreatment | 1 |
| Cisplatin | increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Gasoline | affects cotreatment, decreases expression, increases abundance | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Polycyclic Aromatic Hydrocarbons | affects cotreatment, decreases expression, increases abundance | 1 |
| Urethane | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | increases expression, affects cotreatment | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Lactic Acid | decreases expression | 1 |
| Particulate Matter | affects cotreatment, decreases expression, increases abundance | 1 |
ChEMBL screening assays
6 unique, capped per target: 6 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5697559 | Binding | Inhibition of INO80C (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature |
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.