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Aliases for LOC102724058 Gene

Subcategory (RNA class) for LOC102724058 Gene

ncRNA

Quality Score for this RNA gene is

13

Aliases for LOC102724058 Gene

  • Uncharacterized LOC102724058 3

External Ids for LOC102724058 Gene

Previous GeneCards Identifiers for LOC102724058 Gene

  • GC02U902899

Summaries for LOC102724058 Gene

GeneCards Summary for LOC102724058 Gene

LOC102724058 (Uncharacterized LOC102724058) is an RNA Gene, and is affiliated with the ncRNA class. Diseases associated with LOC102724058 include Generalized Epilepsy With Febrile Seizures Plus, Type 2 and Generalized Epilepsy With Febrile Seizures Plus, Type 1.

Additional gene information for LOC102724058 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LOC102724058 Gene

Genomics for LOC102724058 Gene

GeneHancer (GH) Regulatory Elements for LOC102724058 Gene

Promoters and enhancers for LOC102724058 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J165957 Promoter 0.5 Ensembl 600.7 -0.1 -117 0.2 SCN1A-AS1 LOC102724058 TTC21B
GH02J165972 Enhancer 0.2 Ensembl 0.4 +15.0 14983 0.4 SCN1A-AS1 GALNT3 LOC102724058 GC02P166003
GH02J166034 Enhancer 0.2 FANTOM5 0.2 +76.9 76899 0.4 SCN1A SCN1A-AS1 TTC21B GC02P166003 GC02M166073 LOC102724058
GH02J166031 Enhancer 0.2 Ensembl 0.2 +73.9 73883 0.2 GC02P166003 GC02M166073 SCN1A-AS1 LOC102724058 SCN1A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LOC102724058 on UCSC Golden Path with GeneCards custom track

Genomic Locations for LOC102724058 Gene

Genomic Locations for LOC102724058 Gene
chr2:165,957,418-166,036,400
(GRCh38/hg38)
Size:
78,983 bases
Orientation:
Plus strand

Genomic View for LOC102724058 Gene

Genes around LOC102724058 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LOC102724058 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LOC102724058 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOC102724058 Gene

Proteins for LOC102724058 Gene

Post-translational modifications for LOC102724058 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC102724058 Gene

Domains & Families for LOC102724058 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for LOC102724058 Gene

Function for LOC102724058 Gene

Phenotypes From GWAS Catalog for LOC102724058 Gene

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LOC102724058 Gene

Localization for LOC102724058 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for LOC102724058 Gene

Pathways & Interactions for LOC102724058 Gene

PathCards logo

SuperPathways for LOC102724058 Gene

No Data Available

Interacting Proteins for LOC102724058 Gene

Gene Ontology (GO) - Biological Process for LOC102724058 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOC102724058 Gene

Drugs & Compounds for LOC102724058 Gene

No Compound Related Data Available

Transcripts for LOC102724058 Gene

mRNA/cDNA for LOC102724058 Gene

(4) Additional mRNA sequences :
(1) RNA Central transcripts :

Alternative Splicing Database (ASD) splice patterns (SP) for LOC102724058 Gene

No ASD Table

Relevant External Links for LOC102724058 Gene

GeneLoc Exon Structure for
LOC102724058

Expression for LOC102724058 Gene

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LOC102724058 Gene

Orthologs for LOC102724058 Gene

No data available for Orthologs and Evolution for LOC102724058 Gene

Paralogs for LOC102724058 Gene

No data available for Paralogs for LOC102724058 Gene

Variants for LOC102724058 Gene

Sequence variations from dbSNP and Humsavar for LOC102724058 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1044871344 likely-benign, Early infantile epileptic encephalopathy 165,991,998(+) T/G intron_variant
rs10497275 likely-benign, Epilepsy, Familial hemiplegic migraine 165,990,220(+) A/G intron_variant
rs1057518671 likely-pathogenic, uncertain-significance, Severe myoclonic epilepsy in infancy 165,991,924(+) A/G/T intron_variant
rs1057519533 likely-pathogenic, Severe myoclonic epilepsy in infancy 165,994,184(+) T/A intron_variant
rs1057519534 pathogenic, Severe myoclonic epilepsy in infancy 166,013,759(+) AA/AAA intron_variant

Structural Variations from Database of Genomic Variants (DGV) for LOC102724058 Gene

Variant ID Type Subtype PubMed ID
dgv2085n106 CNV deletion 24896259
dgv63n17 CNV loss 16327808
nsv1149312 CNV insertion 26484159
nsv834445 CNV gain+loss 17160897
nsv961904 CNV duplication 23825009

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Variation tolerance and Additional Variant Information for LOC102724058 Gene

Disorders for LOC102724058 Gene

MalaCards: The human disease database

(7) MalaCards diseases for LOC102724058 Gene - From: GeneCards

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC102724058: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC102724058 Gene

Publications for LOC102724058 Gene

  1. Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies. (PMID: 25087078) International League Against Epilepsy Consortium on Complex Epilepsies. Electronic address: epilepsy-austin@unimelb.edu.au (The Lancet. Neurology 2014) 3 58

No data available for External Links for LOC102724058 Gene

Products for LOC102724058 Gene

Sources for LOC102724058 Gene

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