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Aliases for LOC100287387 Gene

Aliases for LOC100287387 Gene

  • Uncharacterized LOC100287387 3
  • Uncharacterized Protein LOC100287387 3

External Ids for LOC100287387 Gene

Previous GeneCards Identifiers for LOC100287387 Gene

  • GC00U923666
  • GC02M239755

Summaries for LOC100287387 Gene

GeneCards Summary for LOC100287387 Gene

LOC100287387 (Uncharacterized LOC100287387) is a Protein Coding gene. Diseases associated with LOC100287387 include Say Syndrome and Barber-Say Syndrome.

Additional gene information for LOC100287387 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 LOC100287387 Gene

Genomics for LOC100287387 Gene

GeneHancer (GH) Regulatory Elements for LOC100287387 Gene

Promoters and enhancers for LOC100287387 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
GH02J238845 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 0.4 -13.2 -13172 30.9 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 FOS SP5 TWIST2 LOC151174 LOC100287387 GC02M238886
GH02J238820 Enhancer 0.6 ENCODE 0.3 +26.3 26270 1 L3MBTL2 ZNF692 ZNF366 SCRT2 ZSCAN4 ZNF398 ATF2 TRIM28 GC02P238802 LOC100287387
GH02J238810 Enhancer 0.2 ENCODE 0.3 +36.1 36107 1.2 GC02P238802 LOC100287387
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LOC100287387 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LOC100287387 gene promoter:
  • POU2F1a
  • POU2F1
  • ARP-1
  • RSRFC4
  • Olf-1
  • MEF-2A
  • aMEF-2
  • Nkx2-2
  • ZIC2
  • GCNF-2

Genomic Locations for LOC100287387 Gene

Genomic Locations for LOC100287387 Gene
chr2:238,844,546-238,847,679
(GRCh38/hg38)
Size:
3,134 bases
Orientation:
Minus strand
chr2:239,755,218-239,756,320
(GRCh37/hg19)
Size:
1,103 bases
Orientation:
Minus strand

Genomic View for LOC100287387 Gene

Genes around LOC100287387 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LOC100287387 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LOC100287387 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOC100287387 Gene

Proteins for LOC100287387 Gene

Post-translational modifications for LOC100287387 Gene

No Post-translational modifications

Other Protein References for LOC100287387 Gene

REFSEQ proteins:

No data available for DME Specific Peptides for LOC100287387 Gene

Domains & Families for LOC100287387 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 LOC100287387 Gene

Function for LOC100287387 Gene

Phenotypes From GWAS Catalog for LOC100287387 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 LOC100287387 Gene

Localization for LOC100287387 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 LOC100287387 Gene

Pathways & Interactions for LOC100287387 Gene

SuperPathways for LOC100287387 Gene

No Data Available

Interacting Proteins for LOC100287387 Gene

Gene Ontology (GO) - Biological Process for LOC100287387 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOC100287387 Gene

Drugs & Compounds for LOC100287387 Gene

No Compound Related Data Available

Transcripts for LOC100287387 Gene

mRNA/cDNA for LOC100287387 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :

Unigene Clusters for LOC100287387 Gene

Uncharacterized LOC100287387:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LOC100287387 Gene

No ASD Table

Relevant External Links for LOC100287387 Gene

GeneLoc Exon Structure for
LOC100287387

Expression for LOC100287387 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LOC100287387 Gene

SOURCE GeneReport for Unigene cluster for LOC100287387 Gene:

Hs.516864
genes like me logo Genes that share expression patterns with LOC100287387: 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 LOC100287387 Gene

Orthologs for LOC100287387 Gene

No data available for Orthologs and Evolution for LOC100287387 Gene

Paralogs for LOC100287387 Gene

No data available for Paralogs for LOC100287387 Gene

Variants for LOC100287387 Gene

Sequence variations from dbSNP and Humsavar for LOC100287387 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs387906973 pathogenic, Congenital ectodermal dysplasia of face 238,848,570(-) C/T upstream_transcript_variant
rs387906974 pathogenic, Congenital ectodermal dysplasia of face 238,848,408(-) C/T upstream_transcript_variant
rs869320750 pathogenic, Barber-Say syndrome 238,848,439(-) AGCGCCAGCGC/AGCGCCAGCGCCAGCGC upstream_transcript_variant
rs1001149587 -- 238,847,189(-) C/T coding_sequence_variant, missense_variant
rs1001415564 -- 238,846,995(-) CCCCCC/CCCCC coding_sequence_variant, frameshift

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 LOC100287387 Gene

Disorders for LOC100287387 Gene

MalaCards: The human disease database

(2) MalaCards diseases for LOC100287387 Gene - From: GeneCards

Disorder Aliases PubMed IDs
say syndrome
  • cleft palate, microcephaly, large ears, and short stature
barber-say syndrome
  • bbrsay
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LOC100287387

genes like me logo Genes that share disorders with LOC100287387: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LOC100287387 Gene

Publications for LOC100287387 Gene

  1. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for LOC100287387 Gene

Sources for LOC100287387 Gene

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