Aliases for ENSG00000206129 Gene

Aliases for ENSG00000206129 Gene

  • Novel Transcript 5
  • NONHSAG023919 94
  • HSALNG0121712 169
  • AC006305.1 5
  • LINC01539 170

External Ids for ENSG00000206129 Gene

Previous GeneCards Identifiers for ENSG00000206129 Gene

  • GC18M051823
  • GC18M053670

Summaries for ENSG00000206129 Gene

GeneCards Summary for ENSG00000206129 Gene

ENSG00000206129 is an Uncategorized gene. Diseases associated with ENSG00000206129 include Hereditary Hemorrhagic Telangiectasia.

Additional gene information for ENSG00000206129 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 ENSG00000206129 Gene

Genomics for ENSG00000206129 Gene

GeneHancer (GH) Regulatory Elements for ENSG00000206129 Gene

Promoters and enhancers for ENSG00000206129 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
GH18J056189 Enhancer 0.3 Ensembl 750.6 +2.0 1961 0.2 PKNOX1 NRF1 ENSG00000206129 LOC105372132
GH18J056019 Enhancer 0.4 Ensembl 16.1 +170.2 170161 5 PKNOX1 FOS JUN POLR2A ENSG00000206129 ENSG00000287248 LOC642484 piR-60885-051 LOC107985164
GH18J055983 Enhancer 0.9 Ensembl ENCODE 6.5 +208.0 207961 1.4 SMARCE1 SP1 SMARCA4 MTA1 IKZF1 PHF21A ATF1 HDAC1 MTA2 EP300 ENSG00000206129 LINC01416 piR-50399-013 LOC107985164
GH18J055988 Enhancer 0.7 Ensembl ENCODE 7.4 +202.0 201954 2.6 ZBTB40 RFX1 PKNOX1 MEF2D NR2F2 CEBPG CEBPB JUN IKZF1 ENSG00000206129 LINC01416 piR-50399-013 LOC107985164
GH18J055997 Promoter/Enhancer 0.9 Ensembl ENCODE CraniofacialAtlas 5.3 +192.6 192599 3 SP1 IKZF1 EZH2 GABPA LINC01416 ENSG00000206129 piR-60885-051 LOC107985164
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ENSG00000206129 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ENSG00000206129 Gene

Genomic Locations for ENSG00000206129 Gene
chr18:56,003,613-56,191,262
(GRCh38/hg38)
Size:
187,650 bases
Orientation:
Minus strand

Genomic View for ENSG00000206129 Gene

Genes around ENSG00000206129 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENSG00000206129 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENSG00000206129 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

No data available for RefSeq DNA sequence for ENSG00000206129 Gene

Proteins for ENSG00000206129 Gene

Post-translational modifications for ENSG00000206129 Gene

No Post-translational modifications

No data available for DME Specific Peptides for ENSG00000206129 Gene

Domains & Families for ENSG00000206129 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ENSG00000206129 Gene

Function for ENSG00000206129 Gene

Phenotypes From GWAS Catalog for ENSG00000206129 Gene

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 ENSG00000206129 Gene

Localization for ENSG00000206129 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 ENSG00000206129 Gene

Pathways & Interactions for ENSG00000206129 Gene

PathCards logo

SuperPathways for ENSG00000206129 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ENSG00000206129 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for ENSG00000206129 Gene

Drugs & Compounds for ENSG00000206129 Gene

No Compound Related Data Available

Transcripts for ENSG00000206129 Gene

mRNA/cDNA for ENSG00000206129 Gene

(1) REFSEQ mRNAs :
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
(19) RNACentral transcripts :
(16) LNCipedia transcripts :
(15) NONCODE transcripts :
(12) LncBook transcripts :

Alternative Splicing Database (ASD) splice patterns (SP) for ENSG00000206129 Gene

No ASD Table

Relevant External Links for ENSG00000206129 Gene

GeneLoc Exon Structure for
ENSG00000206129

Expression for ENSG00000206129 Gene

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 ENSG00000206129 Gene

Orthologs for ENSG00000206129 Gene

Evolution for ENSG00000206129 Gene

ENSEMBL:
Gene Tree for ENSG00000206129 (if available)
TreeFam:
Gene Tree for ENSG00000206129 (if available)

No data available for Orthologs for ENSG00000206129 Gene

Paralogs for ENSG00000206129 Gene

No data available for Paralogs for ENSG00000206129 Gene

Variants for ENSG00000206129 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for ENSG00000206129 Gene

Disorders for ENSG00000206129 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ENSG00000206129 Gene - From: LncRNADisease

Disorder Aliases PubMed IDs
hereditary hemorrhagic telangiectasia
  • hht
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with ENSG00000206129: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for ENSG00000206129 Gene

Publications for ENSG00000206129 Gene

No publications were found for ENSG00000206129 Gene.

No data available for External Links for ENSG00000206129 Gene

Products for ENSG00000206129 Gene

Sources for ENSG00000206129 Gene