Aliases for LOC100289580 Gene

Data sources for LOC100289580 Gene:

Subcategory (RNA class) for LOC100289580 Gene

lncRNA

Aliases for LOC100289580 Gene

External Ids for LOC100289580 Gene

Previous GeneCards Identifiers for LOC100289580 Gene

  • GC00U928401
  • GC16P088798

Summaries for LOC100289580 Gene

GeneCards Summary for LOC100289580 Gene

LOC100289580 (Uncharacterized LOC100289580) is an RNA Gene, and is affiliated with the lncRNA class.

Additional gene information for LOC100289580 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 LOC100289580 Gene

Genomics for LOC100289580 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LOC100289580 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LOC100289580 on the GeneHancer Hub at the UCSC Golden Path

Top Transcription factor binding sites by QIAGEN in the LOC100289580 gene promoter:
  • Brachyury
  • GR
  • GR-alpha
  • Olf-1
  • POU2F1
  • POU2F1a
  • RP58
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c

Genomic Locations for LOC100289580 Gene

Latest Assembly
chr16:88,728,232-88,741,425
(GRCh38/hg38)
Size:
13,194 bases
Orientation:
Plus strand

Previous Assembly
chr16:88,797,588-88,807,833
(GRCh37/hg19 by Entrez Gene)
Size:
10,246 bases
Orientation:
Plus strand

chr16:88,797,588-88,807,826
(GRCh37/hg19 by Ensembl)
Size:
10,239 bases
Orientation:
Plus strand

Genomic View for LOC100289580 Gene

Genes around LOC100289580 on UCSC Golden Path with GeneCards custom track
LOC100289580 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Cytogenetic band:
LOC100289580 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LOC100289580 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOC100289580 Gene

Proteins for LOC100289580 Gene

Post-translational modifications for LOC100289580 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC100289580 Gene

Domains & Families for LOC100289580 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC100289580 Gene

Function for LOC100289580 Gene

Phenotypes From GWAS Catalog for LOC100289580 Gene

Phenotypes for LOC100289580 Gene

genes like me logo Genes that share phenotypes with LOC100289580: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LOC100289580 Gene

Localization for LOC100289580 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 LOC100289580 Gene

Pathways & Interactions for LOC100289580 Gene

PathCards logo

SuperPathways for LOC100289580 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LOC100289580 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC100289580 Gene

Drugs & Compounds for LOC100289580 Gene

No Compound Related Data Available

Transcripts for LOC100289580 Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for LOC100289580 Gene

RNAcentral Transcript ID Subcategory Length (nts) # of Sources Source Identifiers and Annotations
URS000075EEBC_9606 lncRNA 3776 2

RefSeq: NR_103774,

NONCODE: NONHSAT144425.2,

URS00007720FD_9606 lncRNA 4528 1

Ensembl: ENST00000567968 (view in UCSC) ,

URS00000DB7B5_9606 lncRNA 1539 1

Ensembl: ENST00000440406 (view in UCSC) ,

URS0000606694_9606 lncRNA 4521 1

NONCODE: NONHSAT144427.2,

URS0001BCDF80_9606 lncRNA 3222 1

LncBook: HSALNT0235346,

LOC100289580 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Additional transcripts not in RNAcentral for LOC100289580 Gene

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :

Alternative Splicing Database (ASD) splice patterns (SP) for LOC100289580 Gene

No ASD Table

Relevant External Links for LOC100289580 Gene

GeneLoc Exon Structure for
LOC100289580

Expression for LOC100289580 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LOC100289580 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LOC100289580

SOURCE GeneReport for Unigene cluster for LOC100289580 Gene:

Hs.437712
genes like me logo Genes that share expression patterns with LOC100289580: 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 LOC100289580 Gene

Orthologs for LOC100289580 Gene

Evolution for LOC100289580 Gene

ENSEMBL:
Gene Tree for LOC100289580 (if available)
TreeFam:
Gene Tree for LOC100289580 (if available)

No data available for Orthologs for LOC100289580 Gene

Paralogs for LOC100289580 Gene

No data available for Paralogs for LOC100289580 Gene

Variants for LOC100289580 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LOC100289580 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
959722 Pathogenic: not provided 88,738,289(+) G/T
NM_001142864.4(PIEZO1):c.786C>A (p.Cys262Ter)
NONSENSE,NON_CODING_TRANSCRIPT
962684 Uncertain Significance: not provided 88,733,388(+) G/C
NM_001142864.4(PIEZO1):c.2554C>G (p.Pro852Ala)
MISSENSE
965053 Uncertain Significance: not provided 88,736,399(+) T/A
NM_001142864.4(PIEZO1):c.1306A>T (p.Ile436Phe)
MISSENSE
978651 Likely Pathogenic: Thickened nuchal skin fold; Hydrops fetalis 88,736,167(+) CAG/C
NM_001142864.4(PIEZO1):c.1536_1537del (p.Cys513fs)
FRAMESHIFT
978720 Likely Pathogenic: Lymphedema, hereditary, III; Xerocytosis 88,731,711(+) C/A
NM_001142864.4(PIEZO1):c.3191G>T (p.Cys1064Phe)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LOC100289580 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for LOC100289580 Gene

Variant ID Type Subtype PubMed ID
dgv3064n100 CNV gain 25217958
dgv3065n100 CNV gain 25217958
esv2715032 CNV deletion 23290073
esv2715033 CNV deletion 23290073
esv2715034 CNV deletion 23290073
esv29457 CNV gain 19812545
esv998799 CNV insertion 20482838
nsv1061256 CNV gain 25217958
nsv1063024 CNV gain 25217958
nsv1065973 CNV loss 25217958
nsv1160442 CNV deletion 26073780
nsv1927 CNV insertion 18451855
nsv471113 CNV loss 18288195
nsv471114 CNV gain 18288195
nsv482951 CNV loss 15286789
nsv517643 CNV loss 19592680
nsv573673 CNV loss 21841781
nsv573674 CNV gain 21841781
nsv573675 CNV loss 21841781
nsv833327 CNV loss 17160897
nsv952070 CNV deletion 24416366

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Variation tolerance and Additional Variant Information for LOC100289580 Gene

Disorders for LOC100289580 Gene

No disorders were found for LOC100289580 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for LOC100289580 Gene

Publications for LOC100289580 Gene

  1. The sequence of the human genome. (PMID: 11181995) Venter JC … Zhu X (Science (New York, N.Y.) 2001) 3

No data available for Mastermind for LOC100289580 Gene

Products for LOC100289580 Gene

Sources for LOC100289580 Gene