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Aliases for LOC100130451 Gene

Aliases for LOC100130451 Gene

  • Uncharacterized LOC100130451 3
  • Uncharacterized Protein LOC100130451 3
  • AC079610.1 5

External Ids for LOC100130451 Gene

Previous GeneCards Identifiers for LOC100130451 Gene

  • GC02M213849
  • GC02U901735
  • GC02M214142

Summaries for LOC100130451 Gene

GeneCards Summary for LOC100130451 Gene

LOC100130451 (Uncharacterized LOC100130451) is a Protein Coding gene. Diseases associated with LOC100130451 include Hereditary Hemorrhagic Telangiectasia.

Additional gene information for LOC100130451 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 LOC100130451 Gene

Genomics for LOC100130451 Gene

GeneHancer (GH) Regulatory Elements for LOC100130451 Gene

Promoters and enhancers for LOC100130451 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
GH02J213283 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 -0.4 -356 2.3 HDGF PKNOX1 FOXA2 SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 IRF4 SPAG16 LOC100130451 PIR41828 GC02P213397
GH02J213230 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 10.6 +48.3 48287 10.7 HDGF PKNOX1 FOXA2 SMAD1 ARID4B DMAP1 YBX1 IRF4 ETS1 YY1 SPAG16 LOC100130451 IKZF2 ENSG00000272519 LOC105373864
GH02J213229 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 13.1 +54.3 54331 1 SOX5 SOX13 PKNOX1 TFAP4 SOX6 JUNB CEBPG BATF ZNF518A ZNF592 LOC100130451 SPAG16 ENSG00000272519 LOC105373864
GH02J213251 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.8 +32.4 32404 0.4 CTCF BACH1 ZNF384 BATF RAD21 ZNF316 ZNF143 SMC3 NFE2 MAFK LOC100130451 SPAG16 ENSG00000272519 LOC105373864
GH02J213226 Enhancer 0.7 dbSUPER 10.6 +56.9 56895 1.2 STAT5A EBF1 BATF IRF4 RELA NFATC1 EED ATF7 ETV6 BCLAF1 SPAG16 LOC100130451 ENSG00000272519 LOC105373864
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around LOC100130451 on UCSC Golden Path with GeneCards custom track

Genomic Locations for LOC100130451 Gene

Genomic Locations for LOC100130451 Gene
chr2:213,276,552-213,284,205
(GRCh38/hg38)
Size:
7,654 bases
Orientation:
Minus strand

Genomic View for LOC100130451 Gene

Genes around LOC100130451 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LOC100130451 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LOC100130451 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOC100130451 Gene

Proteins for LOC100130451 Gene

Post-translational modifications for LOC100130451 Gene

No Post-translational modifications

Other Protein References for LOC100130451 Gene

REFSEQ proteins:

No data available for DME Specific Peptides for LOC100130451 Gene

Domains & Families for LOC100130451 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 LOC100130451 Gene

Function for LOC100130451 Gene

Phenotypes From GWAS Catalog for LOC100130451 Gene

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LOC100130451

Clone 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 LOC100130451 Gene

Localization for LOC100130451 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 LOC100130451 Gene

Pathways & Interactions for LOC100130451 Gene

SuperPathways for LOC100130451 Gene

No Data Available

Interacting Proteins for LOC100130451 Gene

Gene Ontology (GO) - Biological Process for LOC100130451 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOC100130451 Gene

Drugs & Compounds for LOC100130451 Gene

No Compound Related Data Available

Transcripts for LOC100130451 Gene

mRNA/cDNA for LOC100130451 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LOC100130451

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LOC100130451 Gene

No ASD Table

Relevant External Links for LOC100130451 Gene

GeneLoc Exon Structure for
LOC100130451

Expression for LOC100130451 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LOC100130451 Gene

genes like me logo Genes that share expression patterns with LOC100130451: view

No data available for 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 LOC100130451 Gene

Orthologs for LOC100130451 Gene

Evolution for LOC100130451 Gene

ENSEMBL:
Gene Tree for LOC100130451 (if available)
TreeFam:
Gene Tree for LOC100130451 (if available)

No data available for Orthologs for LOC100130451 Gene

Paralogs for LOC100130451 Gene

No data available for Paralogs for LOC100130451 Gene

Variants for LOC100130451 Gene

Sequence variations from dbSNP and Humsavar for LOC100130451 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000159117 -- 213,285,149(-) G/A upstream_transcript_variant
rs1000294761 -- 213,284,944(-) T/G upstream_transcript_variant
rs1000298980 -- 213,279,391(-) A/C intron_variant
rs1000460099 -- 213,286,177(-) C/G upstream_transcript_variant
rs1000604235 -- 213,283,673(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for LOC100130451 Gene

Variant ID Type Subtype PubMed ID
nsv834531 CNV loss 17160897
nsv3152 CNV insertion 18451855
nsv1013206 CNV loss 25217958

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Variation tolerance and Additional Variant Information for LOC100130451 Gene

Disorders for LOC100130451 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LOC100130451 Gene - From: LncRNADisease

Disorder Aliases PubMed IDs
hereditary hemorrhagic telangiectasia
  • hht
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LOC100130451

genes like me logo Genes that share disorders with LOC100130451: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LOC100130451 Gene

Publications for LOC100130451 Gene

No publications were found for LOC100130451 Gene.

Products for LOC100130451 Gene

Sources for LOC100130451 Gene

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