Property Summary

NCBI Gene PubMed Count 32
PubMed Score 44.08
PubTator Score 50.14

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count P-value
ovarian cancer 8492 2.00415429549597E-12
group 3 medulloblastoma 2254 3.62505485141936E-6
non-small cell lung cancer 2798 3.89378828670796E-6
pilocytic astrocytoma 3086 4.88273038031525E-6
intraductal papillary-mucinous adenoma (IPMA) 2956 2.69940469289209E-5
primitive neuroectodermal tumor 3031 5.57274204707611E-5
tuberculosis and treatment for 6 months 686 6.96958242607643E-5
atypical teratoid / rhabdoid tumor 4369 7.34220720016809E-5
psoriasis 6685 1.66649156400555E-4
Pick disease 1893 5.92018415237023E-4
lung cancer 4473 7.43255546932702E-4
cutaneous lupus erythematosus 1056 7.99058346762216E-4
intraductal papillary-mucinous carcinoma (IPMC) 2988 9.96887584021381E-4
osteosarcoma 7933 0.00107464869730483
astrocytic glioma 2241 0.00133178725431217
glioblastoma 5572 0.00150643758904378
ependymoma 2514 0.00199340225197757
nasopharyngeal carcinoma 1056 0.00269555674407361
adult high grade glioma 2148 0.00290636190422345
oligodendroglioma 2849 0.0127898689508331
chronic rhinosinusitis 512 0.0216526887466936
Disease Target Count Z-score Confidence
Juvenile myoclonic epilepsy 17 0.0 5.0
Disease Target Count Z-score Confidence
Epilepsy 346 5.534 2.8

Expression

Synonym

Accession Q5JVL4 B4DMU3 F5GZD8 Q5XKM4 Q6E1U7 Q6E1U8 Q8WUL2 Q9NVW6
Symbols EJM1
dJ304B14.2

Gene

  Ortholog (14)

 GWAS Trait (1)

Pathway (1)

Gene RIF (24)

PMID Text
25489633 some EFHC1 mutations may be pathogenic only when introduced into specific genetic backgrounds to juvenile myoclonic epilepsy
23756481 Three SNP alleles in BRD2, Cx-36, and ME2 and microdeletions in 15q13.3, 15q11.2, and 16p13.11 also contribute risk to juvenile myclonic epilepsy.
23756480 Myoclonin1/EFHC1 mutation was suggested releated to juvenile myoclonic epilepsy.
22926142 These results show how Myoclonin1/EFHC1 mutations disrupt brain development and potentially produce structural brain abnormalities on which epileptogenesis is established.
22727576 we conclude that mutations in the Myoclonin1/EFHC1 gene are an important cause of juvenile myoclonic epilepsy in Mexican patients.
22690745 homozygous Phe229Leu mutation associated with primary intractable epilepsy in infancy
22226147 The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18823326 The results of this study show that four coding SNPs, rs3804506, rs3804505, rs1266787, and rs17851770, of EFHC1 may not be susceptibility alleles for juvenile myoclonic epilepsy.
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AA Sequence

MVSNPVHGLPFLPGTSFKDSTKTAFHRSQTLSYRNGYAIVRRPTVGIGGDRLQFNQLSQAELDELASKAP      1 - 70
VLTYGQPKQAPPADFIPAHVAFDKKVLKFDAYFQEDVPMSTEEQYRIRQVNIYYYLEDDSMSVIEPVVEN     71 - 140
SGILQGKLIKRQRLAKNDRGDHYHWKDLNRGINITIYGKTFRVVDCDQFTQVFLESQGIELNPPEKMALD    141 - 210
PYTELRKQPLRKYVTPSDFDQLKQFLTFDKQVLRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREVHE    211 - 280
RNDGRDPFPLLMNRQRVPKVLVENAKNFPQCVLEISDQEVLEWYTAKDFIVGKSLTILGRTFFIYDCDPF    281 - 350
TRRYYKEKFGITDLPRIDVSKREPPPVKQELPPYNGFGLVEDSAQNCFALIPKAPKKDVIKMLVNDNKVL    351 - 420
RYLAVLESPIPEDKDRRFVFSYFLATDMISIFEPPVRNSGIIGGKYLGRTKVVKPYSTVDNPVYYGPSDF    421 - 490
FIGAVIEVFGHRFIILDTDEYVLKYMESNAAQYSPEALASIQNHVRKREAPAPEAESKQTEKDPGVQELE    491 - 560
ALIDTIQKQLKDHSCKDNIREAFQIYDKEASGYVDRDMFFKICESLNVPVDDSLVKELIRMCSHGEGKIN    561 - 630
YYNFVRAFSN                                                                631 - 640
//

Text Mined References (32)

PMID Year Title
25489633 2015 Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.
25416956 2014 A proteome-scale map of the human interactome network.
23756481 2013 Juvenile myoclonic epilepsy as a possible neurodevelopmental disease: role of EFHC1 or Myoclonin1.
23756480 2013 The quest for juvenile myoclonic epilepsy genes.
22926142 2012 Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development.
22727576 2012 Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy.
22690745 2012 Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene.
22226147 2012 The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
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