CENPM
gene geneOn this page
Also known as Pane1CENP-MMGC861
Summary
CENPM (centromere protein M, HGNC:18352) is a protein-coding gene on chromosome 22q13.2, encoding Centromere protein M (Q9NSP4). Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. It is a common-essential gene (DepMap: required in 95.9% of cancer cell lines).
The protein encoded by this gene is an inner protein of the kinetochore, the multi-protein complex that binds spindle microtubules to regulate chromosome segregation during cell division. It belongs to the constitutive centromere-associated network protein group, whose members interact with outer kinetochore proteins and help to maintain centromere identity at each cell division cycle. The protein is structurally related to GTPases but cannot bind guanosine triphosphate. A point mutation that affects interaction with another constitutive centromere-associated network protein, CENP-I, impairs kinetochore assembly and chromosome alignment, suggesting that it is required for kinetochore formation. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 79019 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 35 total
- Cancer dependency (DepMap): dependent in 95.9% of screened cell lines (common-essential)
- MANE Select transcript:
NM_024053
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18352 |
| Approved symbol | CENPM |
| Name | centromere protein M |
| Location | 22q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Pane1, CENP-M, MGC861 |
| Ensembl gene | ENSG00000100162 |
| Ensembl biotype | protein_coding |
| OMIM | 610152 |
| Entrez | 79019 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 11 protein_coding, 2 retained_intron
ENST00000215980, ENST00000396437, ENST00000402338, ENST00000402420, ENST00000404067, ENST00000407253, ENST00000460824, ENST00000472374, ENST00000718240, ENST00000921393, ENST00000921394, ENST00000921395, ENST00000921396
RefSeq mRNA: 7 — MANE Select: NM_024053
NM_001002876, NM_001110215, NM_001304370, NM_001304371, NM_001304372, NM_001304373, NM_024053
CCDS: CCDS14025, CCDS46719, CCDS46720, CCDS77681, CCDS77682, CCDS77683
Canonical transcript exons
ENST00000215980 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000656327 | 41945225 | 41945304 |
| ENSE00001931122 | 41947020 | 41947152 |
| ENSE00003477084 | 41945913 | 41946005 |
| ENSE00003566646 | 41938737 | 41939196 |
| ENSE00003595937 | 41946417 | 41946496 |
| ENSE00003690416 | 41943610 | 41943701 |
Expression profiles
Bgee: expression breadth ubiquitous, 174 present calls, max score 92.34.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.9631 / max 325.0378, expressed in 1504 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 194401 | 14.6476 | 1427 |
| 194400 | 1.4162 | 735 |
| 194395 | 1.1579 | 131 |
| 194399 | 1.0178 | 508 |
| 194398 | 0.4737 | 219 |
| 194397 | 0.1843 | 85 |
| 194394 | 0.0656 | 26 |
Top tissues by expression
282 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of transverse colon | UBERON:0004991 | 92.34 | gold quality |
| right uterine tube | UBERON:0001302 | 90.58 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.25 | gold quality |
| ventricular zone | UBERON:0003053 | 88.62 | gold quality |
| ganglionic eminence | UBERON:0004023 | 85.51 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 85.35 | silver quality |
| bronchus | UBERON:0002185 | 84.40 | silver quality |
| bronchial epithelial cell | CL:0002328 | 84.27 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.24 | gold quality |
| embryo | UBERON:0000922 | 84.21 | gold quality |
| bone marrow | UBERON:0002371 | 81.61 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 81.27 | gold quality |
| vermiform appendix | UBERON:0001154 | 80.44 | gold quality |
| right testis | UBERON:0004534 | 79.82 | gold quality |
| bone marrow cell | CL:0002092 | 79.81 | gold quality |
| left testis | UBERON:0004533 | 79.69 | gold quality |
| lymph node | UBERON:0000029 | 79.36 | gold quality |
| stromal cell of endometrium | CL:0002255 | 79.08 | gold quality |
| esophagus mucosa | UBERON:0002469 | 78.69 | gold quality |
| amniotic fluid | UBERON:0000173 | 78.47 | silver quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 78.01 | gold quality |
| testis | UBERON:0000473 | 77.67 | gold quality |
| spleen | UBERON:0002106 | 76.32 | gold quality |
| caecum | UBERON:0001153 | 75.90 | gold quality |
| rectum | UBERON:0001052 | 75.64 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 75.63 | silver quality |
| skin of abdomen | UBERON:0001416 | 75.40 | gold quality |
| thymus | UBERON:0002370 | 75.15 | silver quality |
| skin of leg | UBERON:0001511 | 74.60 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 74.01 | silver quality |
Single-cell (SCXA)
Detected in 12 experiment(s), a significant marker in 10.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-11121 | yes | 195.58 |
| E-HCAD-10 | yes | 35.84 |
| E-MTAB-9467 | yes | 30.41 |
| E-GEOD-125970 | yes | 25.91 |
| E-CURD-122 | yes | 25.02 |
| E-HCAD-13 | yes | 20.92 |
| E-HCAD-1 | yes | 19.53 |
| E-MTAB-6678 | yes | 8.80 |
| E-ANND-3 | yes | 7.76 |
| E-MTAB-10553 | yes | 7.75 |
| E-MTAB-6108 | no | 109.73 |
| E-HCAD-30 | no | 37.59 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
13 targeting CENPM, 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-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-33A-3P | 99.70 | 70.27 | 3362 |
| HSA-MIR-6739-3P | 99.22 | 68.84 | 1843 |
| HSA-MIR-3194-3P | 98.83 | 66.22 | 1167 |
| HSA-MIR-2276-3P | 98.76 | 67.75 | 1384 |
| HSA-MIR-6778-5P | 98.19 | 66.59 | 1239 |
| HSA-MIR-1233-5P | 98.19 | 66.71 | 1201 |
| HSA-MIR-375-3P | 97.91 | 65.12 | 483 |
| HSA-MIR-5196-3P | 97.57 | 65.98 | 979 |
| HSA-MIR-6779-3P | 97.51 | 65.82 | 789 |
| HSA-MIR-4786-5P | 97.45 | 67.89 | 924 |
| HSA-MIR-7976 | 95.75 | 65.67 | 1186 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 95.9% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 13)
- Expression of the human PANE1 gene was detected preferentially in immune cells (PMID:15183305)
- an alternative transcript of the proliferation-associated nuclear element 1 (PANE1) gene encodes a novel (HLA)-A(*)0301-restricted mHAg that is selectively expressed in B-lymphoid cells (PMID:16391015)
- PANE1 localizes to the centromere throughout the cell cycle and its localization is dependent on the centromere specific histone variant CENP-A. (PMID:16622419)
- CENP-M is crucially required for the assembly and stability of a tetramer also comprising CENP-I, CENP-H, and CENP-K, the HIKM complex, which we extensively characterize through a combination of structural, biochemical, and cell biological approaches. (PMID:25006165)
- CENPM was closely associated with HCC progression and it could be considered as a new possible biomarker along with a therapeutic target for HCC. (PMID:31703591)
- LncRNA HCG18 contributes to the progression of hepatocellular carcinoma via miR-214-3p/CENPM axis. (PMID:32663252)
- Upregulation of CENPM facilitates tumor metastasis via the mTOR/p70S6K signaling pathway in pancreatic cancer. (PMID:32705259)
- Upregulation of centromere protein M promotes tumorigenesis: A potential predictive target for cancer in humans. (PMID:33000180)
- TMEM106C contributes to the malignant characteristics and poor prognosis of hepatocellular carcinoma. (PMID:33591950)
- Upregulation of CENPM facilitates lung adenocarcinoma progression via PI3K/AKT/mTOR signaling pathway. (PMID:35130633)
- CENPM upregulation by E5 oncoprotein of human papillomavirus promotes radiosensitivity in head and neck squamous cell carcinoma. (PMID:35462155)
- Upregulation of CENPM is associated with poor clinical outcome and suppression of immune profile in clear cell renal cell carcinoma. (PMID:36635779)
- Upregulation of CENPM promotes breast carcinogenesis by altering immune infiltration. (PMID:38200449)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pane1 | ENSDARG00000024681 |
| mus_musculus | Cenpm | ENSMUSG00000068101 |
| rattus_norvegicus | Cenpm | ENSRNOG00000023262 |
Protein
Protein identifiers
Centromere protein M — Q9NSP4 (reviewed: Q9NSP4)
Alternative names: Interphase centromere complex protein 39, Proliferation-associated nuclear element protein 1
All UniProt accessions (4): Q9NSP4, B1AHQ6, B1AHQ7, B1AHQ8
UniProt curated annotations — full annotation on UniProt →
Function. Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres.
Subunit / interactions. Component of the CENPA-NAC complex, at least composed of CENPA, CENPC, CENPH, CENPM, CENPN, CENPT and CENPU. The CENPA-NAC complex interacts with the CENPA-CAD complex, composed of CENPI, CENPK, CENPL, CENPO, CENPP, CENPQ, CENPR and CENPS.
Subcellular location. Nucleus. Cytoplasm. Chromosome. Centromere. Kinetochore.
Tissue specificity. Isoform 3 is highly expressed in spleen, and intermediately in heart, prostate and ovary. Isoform 3 is highly expressed in resting CD19 B-cells and B-lineage chronic lymphocytic leukemia (B-CLL) cells and weakly expressed in activated B-cells. Isoform 1 is selectively expressed in activated CD19 cells and weakly in resting CD19 B-cells.
Miscellaneous. Due to intron retention.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NSP4-1 | 1 | yes |
| Q9NSP4-2 | 2 | |
| Q9NSP4-3 | 3 | |
| Q9NSP4-4 | 4 |
RefSeq proteins (7): NP_001002876, NP_001103685, NP_001291299, NP_001291300, NP_001291301, NP_001291302, NP_076958* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR020987 | Centromere_Cenp-M | Family |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
Pfam: PF11111
UniProt features (20 total): strand 7, helix 7, splice variant 5, chain 1
Structure
Experimental structures (PDB)
14 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4P0T | X-RAY DIFFRACTION | 1.49 |
| 4WAU | X-RAY DIFFRACTION | 2.2 |
| 28OP | ELECTRON MICROSCOPY | 2.7 |
| 7R5S | ELECTRON MICROSCOPY | 2.83 |
| 7PKN | ELECTRON MICROSCOPY | 3.2 |
| 7XHO | ELECTRON MICROSCOPY | 3.29 |
| 9TAW | ELECTRON MICROSCOPY | 3.54 |
| 7XHN | ELECTRON MICROSCOPY | 3.71 |
| 9TAX | ELECTRON MICROSCOPY | 4.5 |
| 7R5V | ELECTRON MICROSCOPY | 4.55 |
| 7QOO | ELECTRON MICROSCOPY | 4.6 |
| 7YYH | ELECTRON MICROSCOPY | 8.9 |
| 7YWX | ELECTRON MICROSCOPY | 12 |
| 9TAY | ELECTRON MICROSCOPY | 15.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NSP4-F1 | 89.38 | 0.71 |
Function
Pathways and Gene Ontology
Reactome pathways
21 pathways
| ID | Pathway |
|---|---|
| R-HSA-141444 | Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal |
| R-HSA-2467813 | Separation of Sister Chromatids |
| R-HSA-2500257 | Resolution of Sister Chromatid Cohesion |
| R-HSA-5663220 | RHO GTPases Activate Formins |
| R-HSA-606279 | Deposition of new CENPA-containing nucleosomes at the centromere |
| R-HSA-68877 | Mitotic Prometaphase |
| R-HSA-9648025 | EML4 and NUDC in mitotic spindle formation |
| R-HSA-141424 | Amplification of signal from the kinetochores |
| R-HSA-162582 | Signal Transduction |
| R-HSA-1640170 | Cell Cycle |
| R-HSA-194315 | Signaling by Rho GTPases |
| R-HSA-195258 | RHO GTPase Effectors |
| R-HSA-2555396 | Mitotic Metaphase and Anaphase |
| R-HSA-68882 | Mitotic Anaphase |
| R-HSA-68886 | M Phase |
| R-HSA-69278 | Cell Cycle, Mitotic |
| R-HSA-69618 | Mitotic Spindle Checkpoint |
| R-HSA-69620 | Cell Cycle Checkpoints |
| R-HSA-73886 | Chromosome Maintenance |
| R-HSA-774815 | Nucleosome assembly |
| R-HSA-9716542 | Signaling by Rho GTPases, Miro GTPases and RHOBTB3 |
MSigDB gene sets: 245 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, GSE45365_NK_CELL_VS_CD8A_DC_DN, HORIUCHI_WTAP_TARGETS_DN, KANG_DOXORUBICIN_RESISTANCE_UP, GNF2_MCM5, GNF2_RRM2, GNF2_RRM1, SHEPARD_BMYB_MORPHOLINO_DN, PATIL_LIVER_CANCER, LIAO_METASTASIS, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, FISCHER_DREAM_TARGETS, BASAKI_YBX1_TARGETS_UP
GO Biological Process (1): chromosome segregation (GO:0007059)
GO Molecular Function (0):
GO Cellular Component (8): inner kinetochore (GO:0000939), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), chromosome, centromeric region (GO:0000775), kinetochore (GO:0000776), chromosome (GO:0005694), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-14 pathways:
| Category | Pathways |
|---|---|
| Cell Cycle | 3 |
| Mitotic Prometaphase | 2 |
| M Phase | 2 |
| Amplification of signal from the kinetochores | 1 |
| Mitotic Anaphase | 1 |
| RHO GTPase Effectors | 1 |
| Nucleosome assembly | 1 |
| Mitotic Spindle Checkpoint | 1 |
| Signaling by Rho GTPases, Miro GTPases and RHOBTB3 | 1 |
| Signaling by Rho GTPases | 1 |
| Mitotic Metaphase and Anaphase | 1 |
| Cell Cycle, Mitotic | 1 |
| Cell Cycle Checkpoints | 1 |
| Chromosome Maintenance | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| intracellular membraneless organelle | 2 |
| cell cycle process | 1 |
| kinetochore | 1 |
| protein-containing complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| chromosomal region | 1 |
| condensed chromosome, centromeric region | 1 |
| supramolecular complex | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1084 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CENPM | CENPH | Q9H3R5 | 999 |
| CENPM | CENPK | Q9BS16 | 998 |
| CENPM | CENPI | Q92674 | 995 |
| CENPM | CENPU | Q71F23 | 977 |
| CENPM | CENPN | Q96H22 | 976 |
| CENPM | CENPO | Q9BU64 | 972 |
| CENPM | CENPT | Q96BT3 | 966 |
| CENPM | CENPA | P49450 | 956 |
| CENPM | CENPP | Q6IPU0 | 948 |
| CENPM | CENPQ | Q7L2Z9 | 943 |
| CENPM | CENPC | Q03188 | 939 |
| CENPM | CENPL | Q8N0S6 | 937 |
| CENPM | CENPS | Q8N2Z9 | 920 |
| CENPM | ITGB3BP | Q13352 | 851 |
| CENPM | CENPW | Q5EE01 | 817 |
IntAct
16 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CENPH | NDC80 | psi-mi:“MI:0914”(association) | 0.800 |
| CENPH | ITGB3BP | psi-mi:“MI:0914”(association) | 0.530 |
| CENPH | PSMD11 | psi-mi:“MI:0914”(association) | 0.530 |
| CENPK | DHRS12 | psi-mi:“MI:0914”(association) | 0.530 |
| HTRA2 | HAX1 | psi-mi:“MI:2364”(proximity) | 0.420 |
| Cenpi | CENPK | psi-mi:“MI:0914”(association) | 0.350 |
| Cenph | CENPX | psi-mi:“MI:0914”(association) | 0.350 |
| CENPO | CENPX | psi-mi:“MI:0914”(association) | 0.350 |
| CENPQ | CENPX | psi-mi:“MI:0914”(association) | 0.350 |
| CENPU | CENPX | psi-mi:“MI:0914”(association) | 0.350 |
| MKI67 | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.350 |
| CENPM | CENPI | psi-mi:“MI:0914”(association) | 0.350 |
| CENPM | DNM1L | psi-mi:“MI:0914”(association) | 0.350 |
| DGCR8 | VWA8 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (162): ARRB2 (Affinity Capture-MS), DOK2 (Affinity Capture-MS), CENPM (Affinity Capture-MS), CENPM (Affinity Capture-MS), CENPM (Affinity Capture-MS), CENPM (Affinity Capture-MS), CENPM (Affinity Capture-MS), OXLD1 (Affinity Capture-MS), DOK2 (Affinity Capture-MS), PCP2 (Affinity Capture-MS), CENPM (Negative Genetic), CENPM (Negative Genetic), CENPM (Negative Genetic), CENPM (Negative Genetic), CENPM (Negative Genetic)
ESM2 similar proteins: A1L1L6, A2A825, A6QL63, C9J798, O14908, O43374, O94844, O95278, O95294, Q0P5N6, Q15126, Q1LVW0, Q2HJF8, Q2TBH1, Q3UMR5, Q3UNW5, Q4R4U1, Q5E9M9, Q5R5F8, Q5ZIW1, Q5ZM73, Q5ZM83, Q66JN8, Q6DFV5, Q6GQW0, Q6IE70, Q6NVC5, Q6NYU2, Q7TSA0, Q7Z6G3, Q8BG51, Q8BGF7, Q8BHT7, Q8CIW5, Q8IXI1, Q8IXI2, Q8JZN7, Q8VCX6, Q91XQ2, Q923S8
Diamond homologs: Q1T7B9, Q2TBH1, Q3KQ10, Q7ZZC6, Q9CQA0, Q9NSP4
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CENPM | “form complex” | “CCAN complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 20 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 |
|---|---|---|---|
| Nucleosome assembly | 8 | 271.9× | 4e-17 |
| Chromosome Maintenance | 8 | 120.8× | 3e-14 |
| Amplification of signal from the kinetochores | 8 | 112.5× | 3e-14 |
| Deposition of new CENPA-containing nucleosomes at the centromere | 8 | 90.6× | 1e-13 |
| Mitotic Spindle Checkpoint | 8 | 90.6× | 1e-13 |
| Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal | 8 | 66.6× | 1e-12 |
| Mitotic Metaphase and Anaphase | 8 | 55.3× | 4e-12 |
| Mitotic Anaphase | 8 | 55.3× | 4e-12 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| chromosome segregation | 10 | 108.6× | 2e-17 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
35 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 27 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1060 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:41945315:C:CT | acceptor_gain | 1.0000 |
| 22:41945320:C:T | acceptor_gain | 1.0000 |
| 22:41945320:CAGGG:C | acceptor_gain | 1.0000 |
| 22:41945321:A:T | acceptor_gain | 1.0000 |
| 22:41945324:G:C | acceptor_gain | 1.0000 |
| 22:41945324:G:GC | acceptor_gain | 1.0000 |
| 22:41946415:A:AC | donor_gain | 1.0000 |
| 22:41946415:ACAC:A | donor_gain | 1.0000 |
| 22:41946416:C:CA | donor_gain | 1.0000 |
| 22:41946416:CA:C | donor_gain | 1.0000 |
| 22:41946416:CACC:C | donor_gain | 1.0000 |
| 22:41946416:CACCT:C | donor_gain | 1.0000 |
| 22:41946492:ACCAG:A | acceptor_gain | 1.0000 |
| 22:41946493:CCAG:C | acceptor_gain | 1.0000 |
| 22:41946493:CCAGC:C | acceptor_gain | 1.0000 |
| 22:41946494:CAGC:C | acceptor_gain | 1.0000 |
| 22:41946495:AG:A | acceptor_gain | 1.0000 |
| 22:41946497:C:CC | acceptor_gain | 1.0000 |
| 22:41946497:C:T | acceptor_loss | 1.0000 |
| 22:41946500:C:CT | acceptor_gain | 1.0000 |
| 22:41947017:TA:T | donor_loss | 1.0000 |
| 22:41947018:A:AC | donor_gain | 1.0000 |
| 22:41947018:A:AT | donor_loss | 1.0000 |
| 22:41947019:C:CC | donor_gain | 1.0000 |
| 22:41939194:CACCT:C | acceptor_loss | 0.9900 |
| 22:41939195:ACCTG:A | acceptor_loss | 0.9900 |
| 22:41939196:CCTGC:C | acceptor_loss | 0.9900 |
| 22:41939197:C:CA | acceptor_loss | 0.9900 |
| 22:41939198:T:C | acceptor_loss | 0.9900 |
| 22:41945219:A:AC | donor_gain | 0.9900 |
AlphaMissense
1153 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:41945949:A:G | L65P | 0.984 |
| 22:41943634:G:C | S126R | 0.980 |
| 22:41943634:G:T | S126R | 0.980 |
| 22:41943636:T:G | S126R | 0.980 |
| 22:41945239:A:G | F99S | 0.979 |
| 22:41945251:C:A | G95V | 0.967 |
| 22:41945304:A:C | S77R | 0.966 |
| 22:41945304:A:T | S77R | 0.966 |
| 22:41945914:T:G | S77R | 0.966 |
| 22:41939162:A:G | L146P | 0.956 |
| 22:41945252:C:A | G95W | 0.952 |
| 22:41945940:A:G | F68S | 0.951 |
| 22:41939150:A:G | L150P | 0.949 |
| 22:41945236:A:G | L100P | 0.947 |
| 22:41945281:A:G | L85P | 0.941 |
| 22:41943650:G:T | A121D | 0.939 |
| 22:41945943:A:T | V67E | 0.939 |
| 22:41947021:A:G | L19S | 0.939 |
| 22:41947024:A:T | I18N | 0.939 |
| 22:41945252:C:G | G95R | 0.936 |
| 22:41945252:C:T | G95R | 0.936 |
| 22:41939139:C:G | A154P | 0.935 |
| 22:41945259:G:C | F92L | 0.935 |
| 22:41945259:G:T | F92L | 0.935 |
| 22:41945261:A:G | F92L | 0.935 |
| 22:41946417:A:T | V46D | 0.935 |
| 22:41945939:A:C | F68L | 0.933 |
| 22:41945939:A:T | F68L | 0.933 |
| 22:41945941:A:G | F68L | 0.933 |
| 22:41945952:T:A | D64V | 0.932 |
dbSNP variants (sampled 300 via entrez): RS1000003454 (22:41928787 G>A), RS1000052048 (22:41934524 G>A,C), RS1000059379 (22:41933964 T>A), RS1000256694 (22:41948269 A>C), RS1000311569 (22:41942766 G>A), RS1000363111 (22:41938822 C>T), RS1000428588 (22:41943088 C>G), RS1000439692 (22:41928609 G>T), RS1001080917 (22:41927355 C>T), RS1001317190 (22:41937866 C>T), RS1001378232 (22:41947167 C>A,T), RS1001407710 (22:41927569 G>A), RS1001468470 (22:41948959 G>A), RS1001498760 (22:41932012 G>C), RS1001654166 (22:41937322 G>A,T)
Disease associations
OMIM: gene MIM:610152 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001758_2 | Birth weight | 3.000000e-06 |
| GCST002539_95 | Schizophrenia | 2.000000e-09 |
| GCST006803_13 | Schizophrenia | 2.000000e-14 |
| GCST010002_83 | Refractive error | 2.000000e-27 |
| GCST010132_1 | Processed meat consumption | 1.000000e-08 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004344 | birth weight |
| EFO:0008111 | diet measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs8140869 | CENPM, SMIM45 | 0.00 | 0 |
CTD chemical–gene interactions
59 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, increases expression, decreases expression | 3 |
| Arsenic | affects methylation, decreases expression, increases abundance, affects cotreatment | 3 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Benzo(a)pyrene | decreases expression, increases expression | 2 |
| Smoke | decreases expression, increases abundance, increases expression | 2 |
| Testosterone | affects cotreatment, decreases expression, increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| Particulate Matter | decreases expression, increases abundance, affects cotreatment, increases expression | 2 |
| bisphenol A | decreases expression | 1 |
| sodium arsenate | decreases expression, increases abundance | 1 |
| N(4)-hydroxycytidine | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| diallyl trisulfide | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| 16-hydroxycleroda-3,13(14)-dien-15,16-olide | decreases expression | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| K 7174 | decreases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | decreases expression | 1 |
| palbociclib | decreases expression | 1 |
| jinfukang | increases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Ethanol | increases abundance, increases expression, affects cotreatment | 1 |
| Allergens | decreases 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.