hu.MAP 3.0: Complex View
Human Protein Complex Map
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Complex: huMAP3_05312.1
Complex Portal: CPX-17470
Confidence: Extremely High
Proteins| Genename | Protein Name | Uniprot Annotation Score | Links |
|---|---|---|---|
| NHLRC1 | E3 ubiquitin-protein ligase NHLRC1 (EC 2.3.2.27) (Malin) (NHL repeat-containing protein 1) (RING-type E3 ubiquitin transferase NHLRC1) | 5 | UniProt NCBI |
| EPM2A | Laforin (EC 3.1.3.-) (EC 3.1.3.16) (EC 3.1.3.48) (Glucan phosphatase) (Glycogen phosphatase) (Lafora PTPase) (LAFPTPase) | 5 | UniProt NCBI |
Enrichments
| Term ID | Corrected Pval | Fraction Complex Coverage | Proteins | Term Name |
|---|---|---|---|---|
| HP:0100318 | 3.41752350426e-06 | 1.0 | NHLRC1 EPM2A | Lafora bodies |
| HP:0011165 | 3.41752350426e-05 | 1.0 | NHLRC1 EPM2A | Focal sensory seizure with visual features |
| HP:0025357 | 3.41752350426e-05 | 1.0 | NHLRC1 EPM2A | Erratic myoclonus |
| HP:0001312 | 5.12628525639e-05 | 1.0 | NHLRC1 EPM2A | Giant somatosensory evoked potentials |
| HP:0007537 | 5.12628525639e-05 | 1.0 | NHLRC1 EPM2A | Severe photosensitivity |
| REAC:R-HSA-3785653 | 6.15154230766e-05 | 1.0 | NHLRC1 EPM2A | Myoclonic epilepsy of Lafora |
| REAC:R-HSA-3229121 | 0.000155497319444 | 1.0 | NHLRC1 EPM2A | Glycogen storage diseases |
| REAC:R-HSA-3322077 | 0.000155497319444 | 1.0 | NHLRC1 EPM2A | Glycogen synthesis |
| HP:0031358 | 0.000310994638887 | 1.0 | NHLRC1 EPM2A | Vegetative state |
| HP:0011157 | 0.000310994638887 | 1.0 | NHLRC1 EPM2A | Focal sensory seizure |
| HP:0002367 | 0.000358839967947 | 1.0 | NHLRC1 EPM2A | Visual hallucination |
| HP:0007377 | 0.000358839967947 | 1.0 | NHLRC1 EPM2A | Abnormality of somatosensory evoked potentials |
| REAC:R-HSA-8982491 | 0.000471618243588 | 1.0 | NHLRC1 EPM2A | Glycogen metabolism |
| HP:0033348 | 0.000584396519228 | 1.0 | NHLRC1 EPM2A | Epileptic aura |
| REAC:R-HSA-5663084 | 0.000743311362176 | 1.0 | NHLRC1 EPM2A | Diseases of carbohydrate metabolism |
| HP:0002100 | 0.00111069513888 | 1.0 | NHLRC1 EPM2A | Recurrent aspiration pneumonia |
| HP:0007270 | 0.00119955074999 | 1.0 | NHLRC1 EPM2A | Atypical absence seizure |
| HP:0032679 | 0.00191723068589 | 1.0 | NHLRC1 EPM2A | Focal non-motor seizure |
| HP:0040288 | 0.00191723068589 | 1.0 | NHLRC1 EPM2A | Nasogastric tube feeding |
| HP:0003678 | 0.00191723068589 | 1.0 | NHLRC1 EPM2A | Rapidly progressive |
| HP:0007334 | 0.00266566833332 | 1.0 | NHLRC1 EPM2A | Bilateral tonic-clonic seizure with focal onset |
| HP:0100314 | 0.00266566833332 | 1.0 | NHLRC1 EPM2A | Cerebral inclusion bodies |
| HP:0002344 | 0.00584738271579 | 1.0 | NHLRC1 EPM2A | Progressive neurologic deterioration |
| HP:0001289 | 0.00625406801279 | 1.0 | NHLRC1 EPM2A | Confusion |
| HP:0010819 | 0.0119134869358 | 1.0 | NHLRC1 EPM2A | Atonic seizure |
| HP:0000992 | 0.0146201655512 | 1.0 | NHLRC1 EPM2A | Cutaneous photosensitivity |
| HP:0011951 | 0.0155839071794 | 1.0 | NHLRC1 EPM2A | Aspiration pneumonia |
| HP:0002384 | 0.0165784065192 | 1.0 | NHLRC1 EPM2A | Focal impaired awareness seizure |
| HP:0000709 | 0.0169167413461 | 1.0 | NHLRC1 EPM2A | Psychosis |
| HP:0002123 | 0.0252247409849 | 1.0 | NHLRC1 EPM2A | Generalized myoclonic seizure |
| HP:0000738 | 0.0286559345832 | 1.0 | NHLRC1 EPM2A | Hallucinations |
| REAC:R-HSA-5668914 | 0.0297170756313 | 1.0 | NHLRC1 EPM2A | Diseases of metabolism |
| HP:0001399 | 0.0323058496858 | 1.0 | NHLRC1 EPM2A | Hepatic failure |
| HP:0030177 | 0.0332525036964 | 1.0 | NHLRC1 EPM2A | Abnormality of peripheral nervous system electrophysiology |
| HP:0032120 | 0.0346981161387 | 1.0 | NHLRC1 EPM2A | Abnormal peripheral nervous system physiology |
| HP:0000712 | 0.0387034536857 | 1.0 | NHLRC1 EPM2A | Emotional lability |
| HP:0002121 | 0.0392194997349 | 1.0 | NHLRC1 EPM2A | Generalized non-motor (absence) seizure |
| HP:0002521 | 0.0413178591665 | 1.0 | NHLRC1 EPM2A | Hypsarrhythmia |
| HP:0032677 | 0.0468029843908 | 1.0 | NHLRC1 EPM2A | Generalized-onset motor seizure |
| HP:5200430 | 0.0479410197177 | 1.0 | NHLRC1 EPM2A | Abnormal psychotic pattern |
| HP:0033259 | 0.0496737041344 | 1.0 | NHLRC1 EPM2A | Non-motor seizure |
Edges
| Protein 1 | Protein 2 | Score | ProteomeHD | Interface Overlap | Evidence |
|---|---|---|---|---|---|
| NHLRC1 | EPM2A | 0.996 | bioplex3_WMM bioplex3_HCT116 WMM_only |
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