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Aliases for LOC105371253 Gene

Aliases for LOC105371253 Gene

  • Uncharacterized LOC105371253 3
  • Uncharacterized Protein LOC105371253 3

External Ids for LOC105371253 Gene

Previous GeneCards Identifiers for LOC105371253 Gene

  • GC16U902216

Summaries for LOC105371253 Gene

GeneCards Summary for LOC105371253 Gene

LOC105371253 (Uncharacterized LOC105371253) is a Protein Coding gene. Diseases associated with LOC105371253 include Townes-Brocks Syndrome 1.

Additional gene information for LOC105371253 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 LOC105371253 Gene

Genomics for LOC105371253 Gene

GeneHancer (GH) Regulatory Elements for LOC105371253 Gene

Promoters and enhancers for LOC105371253 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
GH16J051134 Enhancer 0.4 ENCODE 600.7 +1.4 1444 1.1 PRDM1 YY1 SIN3A LOC105371253 SOD1P2
GH16J051119 Enhancer 1.1 Ensembl ENCODE 0.4 +14.7 14674 4.2 ZNF652 ELF3 CEBPG RERE SP1 HNF1A PPARG SP5 ZNF644 KAT8 SALL1 LOC105371253 SOD1P2
GH16J051147 Promoter/Enhancer 1.1 Ensembl dbSUPER 0.4 -10.9 -10927 0.2 PRDM1 PKNOX1 ZIC2 ZNF561 ZXDB OSR2 RAD21 HNF4A FEZF1 ZNF843 ENSG00000261238 SALL1 LOC105371253
GH16J051109 Enhancer 1.3 VISTA Ensembl ENCODE 0.3 +23.1 23073 8.2 ZNF652 MAFK SP1 ATF7 ZNF316 SCRT2 NR2F1 RAD21 HNF4A ZFP64 SOD1P2 LOC105371253
GH16J051132 Enhancer 0.6 ENCODE 0.7 +3.1 3089 0.2 PRDM10 ZEB2 TCF7L2 TCF7 ZFP69B WT1 ZNF335 NFIL3 ATF2 ZNF843 LOC105371253 SOD1P2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LOC105371253 on UCSC Golden Path with GeneCards custom track

Genomic Locations for LOC105371253 Gene

Genomic Locations for LOC105371253 Gene
chr16:51,126,627-51,135,774
(GRCh38/hg38)
Size:
9,148 bases
Orientation:
Minus strand

Genomic View for LOC105371253 Gene

Genes around LOC105371253 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LOC105371253 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LOC105371253 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOC105371253 Gene

Proteins for LOC105371253 Gene

Post-translational modifications for LOC105371253 Gene

No Post-translational modifications

Other Protein References for LOC105371253 Gene

REFSEQ proteins:

No data available for DME Specific Peptides for LOC105371253 Gene

Domains & Families for LOC105371253 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 LOC105371253 Gene

Function for LOC105371253 Gene

Phenotypes From GWAS Catalog for LOC105371253 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 LOC105371253 Gene

Localization for LOC105371253 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 LOC105371253 Gene

Pathways & Interactions for LOC105371253 Gene

PathCards logo

SuperPathways for LOC105371253 Gene

No Data Available

Interacting Proteins for LOC105371253 Gene

Gene Ontology (GO) - Biological Process for LOC105371253 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOC105371253 Gene

Drugs & Compounds for LOC105371253 Gene

No Compound Related Data Available

Transcripts for LOC105371253 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC105371253 Gene

No ASD Table

Relevant External Links for LOC105371253 Gene

GeneLoc Exon Structure for
LOC105371253

No data available for mRNA/cDNA for LOC105371253 Gene

Expression for LOC105371253 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 LOC105371253 Gene

Orthologs for LOC105371253 Gene

No data available for Orthologs and Evolution for LOC105371253 Gene

Paralogs for LOC105371253 Gene

No data available for Paralogs for LOC105371253 Gene

Variants for LOC105371253 Gene

Sequence variations from dbSNP and Humsavar for LOC105371253 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs116971887 benign, Townes-Brocks syndrome 1 51,136,115(-) G/T upstream_transcript_variant
rs140524372 benign-likely-benign, likely-benign, not specified, Townes-Brocks syndrome 1 51,137,172(-) G/A upstream_transcript_variant
rs143159240 likely-benign, Townes-Brocks syndrome 1 51,136,466(-) G/A upstream_transcript_variant
rs184690178 likely-benign, Townes-Brocks syndrome 1 51,136,190(-) A/C upstream_transcript_variant
rs189411650 likely-benign, Townes-Brocks syndrome 1 51,137,145(-) G/A/C upstream_transcript_variant

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 LOC105371253 Gene

Disorders for LOC105371253 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LOC105371253 Gene - From: GeneCards

Disorder Aliases PubMed IDs
townes-brocks syndrome 1
  • tbs1
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC105371253: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC105371253 Gene

Publications for LOC105371253 Gene

No publications were found for LOC105371253 Gene.

No data available for External Links for LOC105371253 Gene

Products for LOC105371253 Gene

Sources for LOC105371253 Gene

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