FIRRM
gene geneOn this page
Also known as FLJ10706Apolo1FLIPMEICA1
Summary
FIRRM (FIGNL1 interacting regulator of recombination and mitosis, HGNC:25565) is a protein-coding gene on chromosome 1q24.2, encoding FIGNL1-interacting regulator of recombination and mitosis (Q9NSG2). Regulates PLK1 kinase activity at kinetochores and promotes faithful chromosome segregation in prometaphase by bridging kinase and phosphatase activities.
Enables protein kinase binding activity. Involved in several processes, including chromosome segregation; interstrand cross-link repair; and regulation of protein kinase activity. Located in several cellular components, including midbody; nuclear lumen; and spindle midzone.
Source: NCBI Gene 55732 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 89 total
- MANE Select transcript:
NM_001320047
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25565 |
| Approved symbol | FIRRM |
| Name | FIGNL1 interacting regulator of recombination and mitosis |
| Location | 1q24.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10706, Apolo1, FLIP, MEICA1 |
| Ensembl gene | ENSG00000000460 |
| Ensembl biotype | protein_coding |
| Entrez | 55732 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 18 protein_coding, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000286031, ENST00000359326, ENST00000413811, ENST00000459772, ENST00000466580, ENST00000472795, ENST00000481744, ENST00000496973, ENST00000498289, ENST00000909928, ENST00000909929, ENST00000909930, ENST00000909931, ENST00000909932, ENST00000909933, ENST00000909934, ENST00000937558, ENST00000937559, ENST00000937560, ENST00000937561, ENST00000937562, ENST00000937563
RefSeq mRNA: 11 — MANE Select: NM_001320047
NM_001320047, NM_001320048, NM_001320050, NM_001320051, NM_001363739, NM_001366768, NM_001366769, NM_001366770, NM_001366771, NM_001366772, NM_001366773
CCDS: CCDS1285, CCDS81400, CCDS81401, CCDS86030
Canonical transcript exons
ENST00000359326 — 25 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001360154 | 169798857 | 169798958 |
| ENSE00001412460 | 169795040 | 169795115 |
| ENSE00001421089 | 169795829 | 169795983 |
| ENSE00003458738 | 169843674 | 169843769 |
| ENSE00003464527 | 169823408 | 169823472 |
| ENSE00003482569 | 169847690 | 169847803 |
| ENSE00003487522 | 169832417 | 169832506 |
| ENSE00003492238 | 169802621 | 169802725 |
| ENSE00003493429 | 169836927 | 169837112 |
| ENSE00003495412 | 169803169 | 169803309 |
| ENSE00003498128 | 169806004 | 169806088 |
| ENSE00003509056 | 169807791 | 169807929 |
| ENSE00003531480 | 169804075 | 169804240 |
| ENSE00003533613 | 169850265 | 169850345 |
| ENSE00003546572 | 169829263 | 169829449 |
| ENSE00003569239 | 169821679 | 169821759 |
| ENSE00003572071 | 169851817 | 169851936 |
| ENSE00003576155 | 169849500 | 169849604 |
| ENSE00003583959 | 169842417 | 169842539 |
| ENSE00003589762 | 169830259 | 169830341 |
| ENSE00003593747 | 169830696 | 169830747 |
| ENSE00003596167 | 169800883 | 169800971 |
| ENSE00003666669 | 169827711 | 169827840 |
| ENSE00003669213 | 169852790 | 169854080 |
| ENSE00003714797 | 169827051 | 169827199 |
Expression profiles
Bgee: expression breadth ubiquitous, 177 present calls, max score 88.46.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.2823 / max 182.1816, expressed in 1635 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 6538 | 12.2823 | 1635 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.46 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.16 | gold quality |
| ventricular zone | UBERON:0003053 | 84.69 | gold quality |
| ganglionic eminence | UBERON:0004023 | 82.14 | gold quality |
| embryo | UBERON:0000922 | 81.08 | gold quality |
| calcaneal tendon | UBERON:0003701 | 79.80 | gold quality |
| right testis | UBERON:0004534 | 78.71 | gold quality |
| testis | UBERON:0000473 | 78.51 | gold quality |
| left testis | UBERON:0004533 | 78.03 | gold quality |
| monocyte | CL:0000576 | 76.10 | gold quality |
| mononuclear cell | CL:0000842 | 75.86 | gold quality |
| leukocyte | CL:0000738 | 75.67 | gold quality |
| stromal cell of endometrium | CL:0002255 | 75.50 | gold quality |
| rectum | UBERON:0001052 | 75.36 | gold quality |
| islet of Langerhans | UBERON:0000006 | 74.19 | gold quality |
| granulocyte | CL:0000094 | 72.88 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 72.75 | gold quality |
| tibial nerve | UBERON:0001323 | 72.56 | gold quality |
| right ovary | UBERON:0002118 | 72.35 | gold quality |
| lymph node | UBERON:0000029 | 72.28 | gold quality |
| body of uterus | UBERON:0009853 | 72.28 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 72.21 | gold quality |
| left ovary | UBERON:0002119 | 72.15 | gold quality |
| ectocervix | UBERON:0012249 | 72.15 | gold quality |
| cerebellar cortex | UBERON:0002129 | 72.03 | gold quality |
| adrenal tissue | UBERON:0018303 | 71.96 | gold quality |
| vermiform appendix | UBERON:0001154 | 71.92 | gold quality |
| popliteal artery | UBERON:0002250 | 71.61 | gold quality |
| tibial artery | UBERON:0007610 | 71.61 | gold quality |
| endocervix | UBERON:0000458 | 71.30 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 5.09 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
12 targeting FIRRM, 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-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| 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-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-6715A-3P | 99.83 | 68.05 | 1473 |
| HSA-MIR-6083 | 99.47 | 68.73 | 2393 |
| HSA-MIR-4727-5P | 99.23 | 67.55 | 1154 |
| HSA-MIR-6738-3P | 99.03 | 67.14 | 1326 |
| HSA-MIR-5001-3P | 98.91 | 67.28 | 1394 |
Literature-anchored findings (GeneRIF, showing 3)
- Knockdown of C1orf112 by siRNA in HeLa cells significantly suppressed their growth. (PMID:23039964)
- Feedback control of PLK1 by Apolo1 ensures accurate chromosome segregation. (PMID:34260926)
- FLIP(C1orf112)-FIGNL1 complex regulates RAD51 chromatin association to promote viability after replication stress. (PMID:38286805)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | firrm | ENSDARG00000042120 |
| mus_musculus | Firrm | ENSMUSG00000041406 |
| rattus_norvegicus | Firrm | ENSRNOG00000059276 |
Protein
Protein identifiers
FIGNL1-interacting regulator of recombination and mitosis — Q9NSG2 (reviewed: Q9NSG2)
Alternative names: FIDGETIN-like-1 interacting protein, POLO1-associating protein
All UniProt accessions (4): A0A1B0GTJ9, A0A1B0GUP7, A0A1B0GV14, Q9NSG2
UniProt curated annotations — full annotation on UniProt →
Function. Regulates PLK1 kinase activity at kinetochores and promotes faithful chromosome segregation in prometaphase by bridging kinase and phosphatase activities. Phosphorylation of FIRRM by PLK1 negatively regulates its interaction with the phosphatase, PPP1CC, thus creating a negative feedback loop for maintaining proper PLK1 kinase activity during mitosis. In complex with FIGL1 may regulate homologous recombination.
Subunit / interactions. Interacts (via its N-terminal region) with PLK1; controls PLK1 kinase activity. Interacts (via the KVVXF motif) with PPP1CC; controls PLK1 kinase activity. Interacts with FIGNL1; may regulate homologous recombination.
Subcellular location. Chromosome. Centromere. Kinetochore. Nucleus. Midbody. Cytoplasm. Cytoskeleton. Spindle.
Post-translational modifications. Phosphorylation at Ser-43 by PLK1 strengthens FIRRM-PLK1 interaction. Phosphorylation at Ser-744 by PLK1 negatively regulates its interaction with PPP1CC.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NSG2-1 | 1 | yes |
| Q9NSG2-2 | 2 | |
| Q9NSG2-3 | 3 |
RefSeq proteins (11): NP_001306976, NP_001306977, NP_001306979, NP_001306980, NP_001350668, NP_001353697, NP_001353698, NP_001353699, NP_001353700, NP_001353701, NP_001353702 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR027902 | DUF4487 | Family |
Pfam: PF14868
UniProt features (13 total): mutagenesis site 4, modified residue 3, sequence conflict 2, splice variant 2, chain 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NSG2-F1 | 86.78 | 0.56 |
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): 43, 744, 792
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 744 | decreased binding to ppp1cc. does not rescue the mitotic defects seen in firrm-depleted cells. |
| 43 | decreased binding to plk1. |
| 43 | increased binding to plk1. |
| 744 | does not affect binding to ppp1cc. rescues the mitotic defects seen in firrm-depleted cells. |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-2500257 | Resolution of Sister Chromatid Cohesion |
| R-HSA-5693568 | Resolution of D-loop Structures through Holliday Junction Intermediates |
| R-HSA-912446 | Meiotic recombination |
MSigDB gene sets: 183 (showing top):
REACTOME_MEIOTIC_RECOMBINATION, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_REGULATION_OF_PHOSPHORYLATION, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, GOBP_REGULATION_OF_TRANSFERASE_ACTIVITY, WEI_MYCN_TARGETS_WITH_E_BOX, WCTCNATGGY_UNKNOWN, GOBP_DNA_DAMAGE_RESPONSE, GOBP_INTERSTRAND_CROSS_LINK_REPAIR, GOBP_MITOTIC_CELL_CYCLE, FISCHER_DREAM_TARGETS, ZHANG_BREAST_CANCER_PROGENITORS_UP, VANTVEER_BREAST_CANCER_ESR1_DN, REACTOME_DNA_REPAIR, HAN_SATB1_TARGETS_DN
GO Biological Process (4): mitotic cell cycle (GO:0000278), chromosome segregation (GO:0007059), interstrand cross-link repair (GO:0036297), regulation of protein kinase activity (GO:0045859)
GO Molecular Function (2): protein kinase binding (GO:0019901), protein binding (GO:0005515)
GO Cellular Component (12): chromosome, centromeric region (GO:0000775), kinetochore (GO:0000776), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), midbody (GO:0030496), spindle midzone (GO:0051233), chromosome (GO:0005694), cytoplasm (GO:0005737), spindle (GO:0005819), cytoskeleton (GO:0005856)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Mitotic Prometaphase | 1 |
| Resolution of D-Loop Structures | 1 |
| Meiosis | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular membraneless organelle | 5 |
| cellular anatomical structure | 5 |
| nuclear lumen | 2 |
| cell cycle | 1 |
| mitotic nuclear division | 1 |
| cell cycle process | 1 |
| DNA repair | 1 |
| regulation of protein phosphorylation | 1 |
| protein kinase activity | 1 |
| regulation of kinase activity | 1 |
| kinase binding | 1 |
| binding | 1 |
| chromosomal region | 1 |
| condensed chromosome, centromeric region | 1 |
| supramolecular complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| cytoplasm | 1 |
| spindle | 1 |
| intracellular anatomical structure | 1 |
| microtubule cytoskeleton | 1 |
Protein interactions and networks
STRING
900 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FIRRM | PARPBP | Q9NWS1 | 536 |
| FIRRM | ZFYVE28 | Q9HCC9 | 502 |
| FIRRM | HGH1 | P0CB43 | 473 |
| FIRRM | TMEM268 | Q5VZI3 | 465 |
| FIRRM | NCAPH | Q15003 | 438 |
| FIRRM | EGFLAM | Q63HQ2 | 435 |
| FIRRM | RAD54L | Q92698 | 431 |
| FIRRM | SGO2 | Q562F6 | 419 |
| FIRRM | KIF18B | Q86Y91 | 419 |
| FIRRM | KIF15 | Q9NS87 | 417 |
| FIRRM | CABIN1 | Q9Y6J0 | 412 |
| FIRRM | ARHGAP11A | Q6P4F7 | 405 |
| FIRRM | NCAPG | Q9BPX3 | 400 |
| FIRRM | TPX2 | Q9ULW0 | 374 |
| FIRRM | FIGNL1 | Q6PIW4 | 370 |
IntAct
89 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| P4HA3 | FIRRM | psi-mi:“MI:0915”(physical association) | 0.560 |
| FIGNL1 | FIRRM | psi-mi:“MI:0915”(physical association) | 0.560 |
| FIRRM | FIGNL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC15A1 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| PDCD1 | RTL8C | psi-mi:“MI:0914”(association) | 0.530 |
| SPINT2 | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| PTGER3 | PIK3R2 | psi-mi:“MI:0914”(association) | 0.530 |
| FCGRT | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| EPHA1 | EXOC5 | psi-mi:“MI:0914”(association) | 0.530 |
| CHRM3 | PLD2 | psi-mi:“MI:0914”(association) | 0.530 |
| HLA-B | LTN1 | psi-mi:“MI:0914”(association) | 0.530 |
| GPR17 | IPO8 | psi-mi:“MI:0914”(association) | 0.530 |
| ILVBL | SLC33A1 | psi-mi:“MI:0914”(association) | 0.530 |
| OPALIN | BTAF1 | psi-mi:“MI:0914”(association) | 0.530 |
| FIGNL1 | CALD1 | psi-mi:“MI:0914”(association) | 0.350 |
| FIRRM | ALDH3A2 | psi-mi:“MI:0914”(association) | 0.350 |
| UNC93B1 | psi-mi:“MI:0914”(association) | 0.350 | |
| GP | IPO5 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC16A11 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| GPR17 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| C11orf87 | KLRG2 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRC25 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| P2RY10 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| EFNB1 | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| TACSTD2 | RIMOC1 | psi-mi:“MI:0914”(association) | 0.350 |
| SIGLECL1 | RBFOX3 | psi-mi:“MI:0914”(association) | 0.350 |
| CLEC4A | RBFOX3 | psi-mi:“MI:0914”(association) | 0.350 |
| C5AR1 | TCAF2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (88): C1orf112 (Affinity Capture-MS), C1orf112 (Affinity Capture-MS), C1orf112 (Affinity Capture-MS), C1orf112 (Affinity Capture-MS), C1orf112 (Affinity Capture-MS), C1orf112 (Affinity Capture-MS), ALDH3A2 (Affinity Capture-MS), TSSC4 (Affinity Capture-MS), DENND4C (Affinity Capture-MS), C1orf112 (Affinity Capture-MS), FIGNL1 (Affinity Capture-MS), SPATA5L1 (Affinity Capture-MS), C5orf30 (Affinity Capture-MS), TMEM263 (Affinity Capture-MS), C1orf112 (Affinity Capture-MS)
ESM2 similar proteins: A0JM49, A2AKG8, B0V0U5, B1AUR6, C5J7W8, E1BGH8, E1C231, E1C2Z0, E7FGT5, E7FH61, E9Q3L2, F6S215, O08662, O60287, O94822, P42356, P57678, P78527, P97313, Q13315, Q13535, Q14146, Q1RLU1, Q2TAW0, Q3TQQ9, Q3URQ0, Q571H0, Q5RDK1, Q5VW36, Q5WNI9, Q5XI94, Q5ZM41, Q62388, Q6A009, Q6DFV1, Q6PQD5, Q6ZRQ5, Q7SY48, Q86XI2, Q8BKX6
Diamond homologs: Q3TQQ9, Q5TYP4, Q5XI94, Q9NSG2
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 121 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 |
|---|---|---|---|
| Class A/1 (Rhodopsin-like receptors) | 10 | 10.4× | 1e-05 |
| GPCR ligand binding | 10 | 9.0× | 3e-05 |
| Peptide ligand-binding receptors | 7 | 7.3× | 3e-03 |
| Signaling by GPCR | 10 | 5.6× | 1e-03 |
| G alpha (i) signalling events | 10 | 5.5× | 1e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger | 6 | 18.0× | 3e-04 |
| adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway | 6 | 12.6× | 1e-03 |
| phospholipase C-activating G protein-coupled receptor signaling pathway | 8 | 10.1× | 3e-04 |
| positive regulation of cytosolic calcium ion concentration | 8 | 9.0× | 6e-04 |
| adenylate cyclase-activating G protein-coupled receptor signaling pathway | 7 | 7.6× | 4e-03 |
| G protein-coupled receptor signaling pathway | 15 | 5.2× | 1e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
89 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 47 |
| Likely benign | 5 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
7063 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:169692934:ATGC:A | donor_gain | 1.0000 |
| 1:169703444:CAA:C | acceptor_gain | 1.0000 |
| 1:169704564:TCA:T | donor_loss | 1.0000 |
| 1:169704565:CA:C | donor_loss | 1.0000 |
| 1:169704566:A:AT | donor_loss | 1.0000 |
| 1:169704754:C:CC | acceptor_gain | 1.0000 |
| 1:169704757:CAA:C | acceptor_gain | 1.0000 |
| 1:169704758:A:T | acceptor_gain | 1.0000 |
| 1:169704759:A:AC | acceptor_gain | 1.0000 |
| 1:169704759:A:C | acceptor_gain | 1.0000 |
| 1:169707462:C:CT | acceptor_gain | 1.0000 |
| 1:169707463:A:T | acceptor_gain | 1.0000 |
| 1:169710433:TA:T | donor_loss | 1.0000 |
| 1:169710434:A:AC | donor_gain | 1.0000 |
| 1:169710434:ACC:A | donor_loss | 1.0000 |
| 1:169710435:C:CC | donor_gain | 1.0000 |
| 1:169710435:CCA:C | donor_gain | 1.0000 |
| 1:169710435:CCAC:C | donor_loss | 1.0000 |
| 1:169710513:AATAT:A | acceptor_gain | 1.0000 |
| 1:169710514:ATAT:A | acceptor_gain | 1.0000 |
| 1:169710515:TAT:T | acceptor_gain | 1.0000 |
| 1:169710516:AT:A | acceptor_gain | 1.0000 |
| 1:169710516:ATCT:A | acceptor_loss | 1.0000 |
| 1:169710517:TC:T | acceptor_loss | 1.0000 |
| 1:169710518:C:CC | acceptor_gain | 1.0000 |
| 1:169710518:CTGCA:C | acceptor_loss | 1.0000 |
| 1:169710519:T:A | acceptor_loss | 1.0000 |
| 1:169710524:A:AC | acceptor_gain | 1.0000 |
| 1:169725799:CTG:C | acceptor_gain | 1.0000 |
| 1:169725802:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
5620 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:169806072:T:A | W183R | 0.994 |
| 1:169806072:T:C | W183R | 0.994 |
| 1:169806064:C:A | A180D | 0.993 |
| 1:169830325:T:A | W461R | 0.992 |
| 1:169830325:T:C | W461R | 0.992 |
| 1:169807795:A:C | S190R | 0.990 |
| 1:169807797:C:A | S190R | 0.990 |
| 1:169807797:C:G | S190R | 0.990 |
| 1:169806075:A:G | K184E | 0.989 |
| 1:169821727:T:C | F251L | 0.988 |
| 1:169821729:T:A | F251L | 0.988 |
| 1:169821729:T:G | F251L | 0.988 |
| 1:169804154:T:C | L131P | 0.987 |
| 1:169836978:T:A | W531R | 0.987 |
| 1:169836978:T:C | W531R | 0.987 |
| 1:169804135:T:C | F125L | 0.984 |
| 1:169804137:C:A | F125L | 0.984 |
| 1:169804137:C:G | F125L | 0.984 |
| 1:169806077:G:C | K184N | 0.984 |
| 1:169806077:G:T | K184N | 0.984 |
| 1:169821715:A:G | K247E | 0.984 |
| 1:169827803:T:A | W364R | 0.983 |
| 1:169827803:T:C | W364R | 0.983 |
| 1:169821743:T:C | L256P | 0.980 |
| 1:169806076:A:C | K184T | 0.979 |
| 1:169821717:A:C | K247N | 0.979 |
| 1:169821717:A:T | K247N | 0.979 |
| 1:169821725:G:C | R250P | 0.977 |
| 1:169821728:T:C | F251S | 0.977 |
| 1:169823411:T:C | F263L | 0.977 |
dbSNP variants (sampled 300 via entrez): RS1000148262 (1:169844885 G>T), RS1000155314 (1:169820689 A>G), RS1000168905 (1:169817396 A>T), RS1000192717 (1:169831316 A>G), RS1000214862 (1:169850981 T>C), RS1000262694 (1:169807498 T>C), RS1000293417 (1:169781952 G>A), RS1000321546 (1:169810983 C>T), RS1000343181 (1:169788590 G>C,T), RS1000357893 (1:169795914 G>A,T), RS1000387204 (1:169823001 C>G), RS1000417877 (1:169813150 G>A,T), RS1000436565 (1:169844489 T>G), RS1000452095 (1:169817200 A>C), RS1000474727 (1:169837635 T>G)
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
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST008310_1 | Cardiac Troponin-T levels | 3.000000e-08 |
| GCST010481_6 | Acute anterior uveitis in ankylosing spondylitis | 6.000000e-07 |
| GCST90002380_116 | Basophil percentage of white cells | 7.000000e-10 |
| GCST90002382_16 | Eosinophil percentage of white cells | 6.000000e-11 |
| GCST90002393_164 | Monocyte count | 4.000000e-11 |
| GCST90002393_165 | Monocyte count | 5.000000e-12 |
| GCST90002394_90 | Monocyte percentage of white cells | 4.000000e-11 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005043 | cardiac troponin T measurement |
| EFO:0007992 | basophil percentage of leukocytes |
| EFO:0007991 | eosinophil percentage of leukocytes |
| EFO:0005091 | monocyte count |
| EFO:0007989 | monocyte percentage of leukocytes |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
48 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cyclosporine | decreases expression | 3 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance | 2 |
| Air Pollutants | affects cotreatment, increases abundance, increases expression, decreases expression | 2 |
| Tretinoin | decreases expression, increases expression | 2 |
| Valproic Acid | decreases expression | 2 |
| Cadmium Chloride | decreases expression | 2 |
| afuresertib | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | decreases methylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| lasiocarpine | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases expression, increases abundance | 1 |
| bisphenol A | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases expression, increases abundance | 1 |
| epigallocatechin gallate | decreases expression, affects cotreatment | 1 |
| phenethyl isothiocyanate | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| deguelin | decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Dasatinib | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SG17 | HAP1 C1orf112 (-) 1 | Cancer cell line | Male |
| CVCL_SG18 | HAP1 C1orf112 (-) 2 | Cancer cell line | Male |
| CVCL_XM27 | HAP1 C1orf112 (-) 3 | Cancer cell line | Male |
| CVCL_XM28 | HAP1 C1orf112 (-) 4 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): anterior uveitis