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Aliases for LOC102723439 Gene

Subcategory (RNA class) for LOC102723439 Gene

ncRNA

Quality Score for this RNA gene is

13

Aliases for LOC102723439 Gene

  • Uncharacterized LOC102723439 3

External Ids for LOC102723439 Gene

Summaries for LOC102723439 Gene

GeneCards Summary for LOC102723439 Gene

LOC102723439 (Uncharacterized LOC102723439) is an RNA Gene, and is affiliated with the ncRNA class. Diseases associated with LOC102723439 include Hypermethioninemia Due To Adenosine Kinase Deficiency.

Additional gene information for LOC102723439 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 LOC102723439 Gene

Genomics for LOC102723439 Gene

GeneHancer (GH) Regulatory Elements for LOC102723439 Gene

Promoters and enhancers for LOC102723439 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
GH10J074529 Enhancer 0.4 Ensembl 600.7 -0.3 -277 0.8 CEBPB FOXA2 FOXA1 LOC102723439 ENSG00000232342 ADK
GH10J074521 Enhancer 0.4 Ensembl 0.4 +6.6 6623 2.2 PRDM1 ZNF155 ADK SEC24C ZSWIM8 GLUD1P3 NDST2 DUSP8P5 ZSWIM8-AS1 ENSG00000272140 MRPL35P3 LOC102723439
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LOC102723439 on UCSC Golden Path with GeneCards custom track

Genomic Locations for LOC102723439 Gene

Genomic Locations for LOC102723439 Gene
chr10:74,506,498-74,529,324
(GRCh38/hg38)
Size:
22,827 bases
Orientation:
Minus strand

Genomic View for LOC102723439 Gene

Genes around LOC102723439 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LOC102723439 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LOC102723439 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOC102723439 Gene

Proteins for LOC102723439 Gene

Post-translational modifications for LOC102723439 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC102723439 Gene

Domains & Families for LOC102723439 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 LOC102723439 Gene

Function for LOC102723439 Gene

Animal Model 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 LOC102723439 Gene

Localization for LOC102723439 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 LOC102723439 Gene

Pathways & Interactions for LOC102723439 Gene

PathCards logo

SuperPathways for LOC102723439 Gene

No Data Available

Interacting Proteins for LOC102723439 Gene

Gene Ontology (GO) - Biological Process for LOC102723439 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOC102723439 Gene

Drugs & Compounds for LOC102723439 Gene

No Compound Related Data Available

Transcripts for LOC102723439 Gene

mRNA/cDNA for LOC102723439 Gene

(1) Additional mRNA sequences :
(1) RNA Central transcripts :

Alternative Splicing Database (ASD) splice patterns (SP) for LOC102723439 Gene

No ASD Table

Relevant External Links for LOC102723439 Gene

GeneLoc Exon Structure for
LOC102723439

Expression for LOC102723439 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 LOC102723439 Gene

Orthologs for LOC102723439 Gene

No data available for Orthologs and Evolution for LOC102723439 Gene

Paralogs for LOC102723439 Gene

No data available for Paralogs for LOC102723439 Gene

Variants for LOC102723439 Gene

Sequence variations from dbSNP and Humsavar for LOC102723439 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs16931480 likely-benign, Hypermethioninemia 74,525,405(-) T/C intron_variant
rs397514453 pathogenic, Hypermethioninemia due to adenosine kinase deficiency 74,525,404(-) A/C intron_variant
rs45529443 uncertain-significance, Hypermethioninemia 74,525,437(-) T/C/G intron_variant
rs1000066544 -- 74,511,972(-) T/C intron_variant
rs1000173110 -- 74,518,752(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for LOC102723439 Gene

Variant ID Type Subtype PubMed ID
dgv112n27 CNV loss 19166990
dgv1265n54 CNV loss 21841781
dgv1266n54 CNV loss 21841781
esv2567854 CNV deletion 19546169
esv2641301 CNV deletion 19546169
nsv1046267 CNV gain 25217958
nsv515824 CNV gain+loss 19592680
nsv551528 CNV loss 21841781
nsv7165 CNV insertion 18451855
nsv948072 CNV duplication 23825009

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Variation tolerance and Additional Variant Information for LOC102723439 Gene

Disorders for LOC102723439 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LOC102723439 Gene - From: GeneCards

Disorder Aliases PubMed IDs
hypermethioninemia due to adenosine kinase deficiency
  • mental retardation, autosomal recessive 8, formerly; mrt8, formerly
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC102723439: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC102723439 Gene

Publications for LOC102723439 Gene

No publications were found for LOC102723439 Gene.

No data available for External Links for LOC102723439 Gene

Products for LOC102723439 Gene

Sources for LOC102723439 Gene

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