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Gene : LGI1 Homo sapiens

Name  ? leucine rich glioma inactivated 1 Cytological Location  10q23.33
Brief Description  leucine rich glioma inactivated 1
Description  This gene encodes a member of the secreted leucine-rich repeat (LRR) superfamily and shares homology with members of the SLIT protein family. The encoded protein may regulate the activity of voltage-gated potassium channels and may be involved in neuronal growth regulation and cell survival. This gene is rearranged as a result of translocations in glioblastoma cell lines, and it is frequently down-regulated or rearranged in malignant gliomas. Mutations in this gene result in autosomal dominant lateral temporal epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
  • synonyms:
  • EPITEMPIN,
  • IB1099,
  • EPT,
  • EPT,
  • LGI1,
  • IB1099,
  • ADPEAF,
  • uc001kjc.5,
  • ADLTE,
  • ADPAEF,
  • ETL1,
  • ETL1,
  • OTTHUMG00000018777,
  • NM_005097,
  • AF055636,
  • HGNC:6572,
  • EPITEMPIN,
  • epilepsy, partial
  • identifiers:
  • 9211,
  • ENSG00000108231,
  • LGI1

Genome feature

Region: gene ? Length: 40366  
Location: 10:93757809-93798174 Cyto location: 10q23.33


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

294 SN Ps

5 Cross References

16 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results