Aliases for LOC102723439 Gene

Subcategory (RNA class) for LOC102723439 Gene

lncRNA

Number of RNA Genes sources:

3 / 14

Aliases for LOC102723439 Gene

  • Uncharacterized LOC102723439 3
  • HSALNG0078908 167
  • NONHSAG006248 92
  • Lnc-AP3M1-3 168

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 lncRNA class. Diseases associated with LOC102723439 include Hypermethioninemia Due To Adenosine Kinase Deficiency and Hypermethioninemia.

Additional gene information for LOC102723439 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 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 500.7 -0.3 -277 0.4 FOS CEBPB SPI1 STAT3 ENSG00000232342 LOC102723439 ADK
GH10J074521 Enhancer 0.3 Ensembl CraniofacialAtlas 0.4 +7.8 7802 0.6 ENSG00000232342 LOC102723439 lnc-KAT6B-3 MRPL35P3 lnc-KAT6B-4 ADK
GH10J074522 Enhancer 0.3 Ensembl CraniofacialAtlas 0.4 +7.2 7202 0.6 ENSG00000232342 LOC102723439 lnc-KAT6B-3 MRPL35P3 lnc-KAT6B-4 ADK
GH10J074523 Enhancer 0.3 Ensembl 0.4 +6.1 6123 1.2 ZNF155 PRDM1 ADK SEC24C ZSWIM8 GLUD1P3 NDST2 DUSP8P5 ZSWIM8-AS1 ENSG00000272140 MRPL35P3 lnc-KAT6B-3
- 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

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC102723439 Gene

Function for LOC102723439 Gene

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
;

Gene Ontology (GO) - Biological Process for LOC102723439 Gene

None

No data available for Pathways by source , Interacting Proteins 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

4 RNACentral transcripts :
1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
2 NONCODE transcripts :
1 LncBook transcripts :
4 LNCipedia 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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LOC102723439 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LOC102723439

genes like me logo Genes that share expression patterns with LOC102723439: 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 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LOC102723439 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs16931480 Likely Benign: Hypermethioninemia 74,525,405(-) T/C SYNONYMOUS_VARIANT,INTRON_VARIANT
rs397514453 Pathogenic: Hypermethioninemia due to adenosine kinase deficiency 74,525,404(-) A/C MISSENSE_VARIANT,INTRON_VARIANT
rs45529443 Uncertain Significance: Hypermethioninemia 74,525,437(-) T/G INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for LOC102723439 Gene

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

(2) 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
hypermethioninemia
  • mat deficiency
- 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 Mastermind for LOC102723439 Gene

Products for LOC102723439 Gene

Sources for LOC102723439 Gene