Aliases for LOC100130357 Gene

Subcategory (RNA class) for LOC100130357 Gene

lncRNA

Aliases for LOC100130357 Gene

  • Uncharacterized LOC100130357 3

External Ids for LOC100130357 Gene

Previous GeneCards Identifiers for LOC100130357 Gene

  • GC06M013388
  • GC06M013403
  • GC06M013295
  • GC06M013228
  • GC06M013291

Summaries for LOC100130357 Gene

GeneCards Summary for LOC100130357 Gene

LOC100130357 (Uncharacterized LOC100130357) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with LOC100130357 include Epileptic Encephalopathy, Early Infantile, 70.

Additional gene information for LOC100130357 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LOC100130357 Gene

Genomics for LOC100130357 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LOC100130357 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LOC100130357 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LOC100130357

Top Transcription factor binding sites by QIAGEN in the LOC100130357 gene promoter:
  • aMEF-2
  • AML1a
  • Arnt
  • LUN-1
  • MEF-2
  • MEF-2A
  • Nkx2-5
  • POU3F1
  • USF-1
  • USF1

Genomic Locations for LOC100130357 Gene

Genomic Locations for LOC100130357 Gene
chr6:13,273,094-13,295,586
(GRCh38/hg38)
Size:
22,493 bases
Orientation:
Minus strand
chr6:13,279,527-13,295,818
(GRCh37/hg19)
Size:
16,292 bases
Orientation:
Minus strand

Genomic View for LOC100130357 Gene

Genes around LOC100130357 on UCSC Golden Path with GeneCards custom track
LOC100130357 in the GeneCards ncRNA compendium hub on the UCSC Golden Path

Cytogenetic band:
LOC100130357 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LOC100130357 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOC100130357 Gene

Proteins for LOC100130357 Gene

Post-translational modifications for LOC100130357 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC100130357 Gene

Domains & Families for LOC100130357 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC100130357 Gene

Function for LOC100130357 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LOC100130357 Gene

Localization for LOC100130357 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 LOC100130357 Gene

Pathways & Interactions for LOC100130357 Gene

PathCards logo

SuperPathways for LOC100130357 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LOC100130357 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC100130357 Gene

Drugs & Compounds for LOC100130357 Gene

No Compound Related Data Available

Transcripts for LOC100130357 Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for LOC100130357 Gene

RNAcentral Transcript ID Subcategory Length (nts) # of Sources Source Identifiers and Annotations
URS0000E60B60_9606 lncRNA 2443 1

RefSeq: NR_160971,

URS0000E60A8E_9606 lncRNA 680 1

RefSeq: NR_134859,

LOC100130357 in the GeneCards ncRNA compendium hub on the UCSC Golden Path

Additional transcripts not in RNAcentral for LOC100130357 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LOC100130357

Alternative Splicing Database (ASD) splice patterns (SP) for LOC100130357 Gene

No ASD Table

Relevant External Links for LOC100130357 Gene

GeneLoc Exon Structure for
LOC100130357

Expression for LOC100130357 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LOC100130357

SOURCE GeneReport for Unigene cluster for LOC100130357 Gene:

Hs.657498
No Expression Related Data Available

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 LOC100130357 Gene

Orthologs for LOC100130357 Gene

No data available for Orthologs and Evolution for LOC100130357 Gene

Paralogs for LOC100130357 Gene

No data available for Paralogs for LOC100130357 Gene

Variants for LOC100130357 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LOC100130357 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs748743403 Pathogenic: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 13,283,473(-) C/T MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for LOC100130357 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC100130357 Gene

Disorders for LOC100130357 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LOC100130357 Gene - From: GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 70
  • eiee70
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC100130357: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC100130357 Gene

Publications for LOC100130357 Gene

  1. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3

No data available for Mastermind for LOC100130357 Gene

Products for LOC100130357 Gene

Sources for LOC100130357 Gene