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Aliases for LOC101929680 Gene

Subcategory (RNA class) for LOC101929680 Gene

ncRNA

Quality Score for this RNA gene is

13

Aliases for LOC101929680 Gene

  • Uncharacterized LOC101929680 3
  • AC010127.1 5

External Ids for LOC101929680 Gene

Previous GeneCards Identifiers for LOC101929680 Gene

  • GC02U902785

Summaries for LOC101929680 Gene

GeneCards Summary for LOC101929680 Gene

LOC101929680 (Uncharacterized LOC101929680) is an RNA Gene, and is affiliated with the ncRNA class. Diseases associated with LOC101929680 include Generalized Epilepsy With Febrile Seizures Plus, Type 7 and Indifference To Pain, Congenital, Autosomal Recessive.

Additional gene information for LOC101929680 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 LOC101929680 Gene

Genomics for LOC101929680 Gene

GeneHancer (GH) Regulatory Elements for LOC101929680 Gene

Promoters and enhancers for LOC101929680 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
GH02J165952 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 17.5 -3.3 -3339 3.4 CLOCK ZFP64 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC TTC21B LOC101929680 GALNT3
GH02J166131 Enhancer 0.9 dbSUPER 16.3 +177.4 177412 6.2 FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 ATF7 NFKBIZ SP5 PPARG LOC101929680 GALNT3 SCN3A GC02M166127 GC02M166126 SCN1A GC02M166154 GC02M166148
GH02J166127 Enhancer 1 Ensembl dbSUPER 11.4 +170.3 170288 0.8 ELF3 FOXA2 NFIB RAD21 ZNF143 ZNF654 ZNF362 MXD4 REST MIER2 GC02M166127 GC02M166126 SCN1A LOC101929680 GC02M166154 GC02M166148
GH02J166125 Enhancer 0.8 FANTOM5 dbSUPER 11.4 +168.8 168786 0.4 GATAD2A STAT1 SAP130 TEAD1 HLF CEBPB CEBPG TEAD3 NFIL3 ATF4 GC02M166126 GC02M166127 SCN1A LOC101929680 GC02M166124
GH02J165874 Enhancer 0.8 Ensembl ENCODE 4.3 -82.9 -82926 0.8 SMARCA5 CTCF ZNF654 TRIM22 REST ELF1 RAD21 TARDBP ZNF143 SMC3 LOC101929680 LOC100506124 TTC21B-AS1 TTC21B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LOC101929680 on UCSC Golden Path with GeneCards custom track

Genomic Locations for LOC101929680 Gene

Genomic Locations for LOC101929680 Gene
chr2:165,957,399-166,301,784
(GRCh38/hg38)
Size:
344,386 bases
Orientation:
Plus strand
chr2:166,813,909-167,158,294
(GRCh37/hg19)

Genomic View for LOC101929680 Gene

Genes around LOC101929680 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LOC101929680 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LOC101929680 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOC101929680 Gene

Proteins for LOC101929680 Gene

Post-translational modifications for LOC101929680 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC101929680 Gene

Domains & Families for LOC101929680 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 LOC101929680 Gene

Function for LOC101929680 Gene

Animal Model Products

Clone Products

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 LOC101929680 Gene

Localization for LOC101929680 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 LOC101929680 Gene

Pathways & Interactions for LOC101929680 Gene

SuperPathways for LOC101929680 Gene

No Data Available

Interacting Proteins for LOC101929680 Gene

Gene Ontology (GO) - Biological Process for LOC101929680 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOC101929680 Gene

Drugs & Compounds for LOC101929680 Gene

No Compound Related Data Available

Transcripts for LOC101929680 Gene

mRNA/cDNA for LOC101929680 Gene

(13) Ensembl transcripts including schematic representations, and UCSC links where relevant :
(13) RNA Central transcripts :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LOC101929680 Gene

No ASD Table

Relevant External Links for LOC101929680 Gene

GeneLoc Exon Structure for
LOC101929680

Expression for LOC101929680 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 LOC101929680 Gene

Orthologs for LOC101929680 Gene

Evolution for LOC101929680 Gene

ENSEMBL:
Gene Tree for LOC101929680 (if available)
TreeFam:
Gene Tree for LOC101929680 (if available)

No data available for Orthologs for LOC101929680 Gene

Paralogs for LOC101929680 Gene

No data available for Paralogs for LOC101929680 Gene

Variants for LOC101929680 Gene

Sequence variations from dbSNP and Humsavar for LOC101929680 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1034452097 uncertain-significance, Generalized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIA 166,198,713(+) T/C intron_variant
rs1057518900 pathogenic, Pain insensitivity 166,284,785(+) G/A intron_variant
rs1060502047 likely-pathogenic, Generalized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIA 166,198,763(+) T/G intron_variant
rs1060502048 uncertain-significance, Generalized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIA 166,280,361(+) T/C intron_variant
rs1060502050 uncertain-significance, Generalized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIA 166,294,627(+) G/C non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for LOC101929680 Gene

Variant ID Type Subtype PubMed ID
esv1764654 CNV deletion 17803354
esv1997121 CNV deletion 18987734
esv2127014 CNV deletion 18987734
esv23265 CNV loss 19812545
esv2357676 CNV deletion 18987734
esv2658860 CNV deletion 23128226
esv2666983 CNV deletion 23128226
esv2721078 CNV deletion 23290073
esv2721079 CNV deletion 23290073
esv2721080 CNV deletion 23290073
esv2721081 CNV deletion 23290073
esv2721082 CNV deletion 23290073
esv2721083 CNV deletion 23290073
esv3304915 CNV mobile element insertion 20981092
esv3326002 CNV insertion 20981092
esv3593246 CNV gain 21293372
esv3593247 CNV loss 21293372
nsv1071633 CNV deletion 25765185
nsv1136433 CNV deletion 24896259
nsv1136434 CNV deletion 24896259
nsv459937 CNV loss 19166990
nsv478361 CNV novel sequence insertion 20440878
nsv583585 CNV loss 21841781
nsv956697 CNV deletion 24416366
nsv961905 CNV duplication 23825009
nsv961906 CNV duplication 23825009

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Variation tolerance and Additional Variant Information for LOC101929680 Gene

Disorders for LOC101929680 Gene

MalaCards: The human disease database

(4) MalaCards diseases for LOC101929680 Gene - From: GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LOC101929680

genes like me logo Genes that share disorders with LOC101929680: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LOC101929680 Gene

Publications for LOC101929680 Gene

  1. Regulation of Nav1.7: A Conserved SCN9A Natural Antisense Transcript Expressed in Dorsal Root Ganglia. (PMID: 26035178) Koenig J … Cox JJ (PloS one 2015) 3 58
  2. Common variants associated with general and MMR vaccine-related febrile seizures. (PMID: 25344690) Feenstra B … Hviid A (Nature genetics 2014) 3 58
  3. Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. (PMID: 24014518) Kasperaviciute D … Sisodiya SM (Brain : a journal of neurology 2013) 3 58
  4. Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). (PMID: 22952603) Hart AB … Palmer AA (PloS one 2012) 3 58
  5. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. (PMID: 22949513) EPICURE Consortium … Sander T (Human molecular genetics 2012) 3 58

Products for LOC101929680 Gene

Sources for LOC101929680 Gene

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