Aliases for LOC100130987 Gene

Data sources for LOC100130987 Gene:

RNA type for LOC100130987 Gene

lncRNA

Aliases for LOC100130987 Gene

External Ids for LOC100130987 Gene

Previous GeneCards Identifiers for LOC100130987 Gene

  • GC11U901041
  • GC11P067085

Summaries for LOC100130987 Gene

GeneCards Summary for LOC100130987 Gene

LOC100130987 (Uncharacterized LOC100130987) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with LOC100130987 include Crisponi/Cold-Induced Sweating Syndrome 2 and Cold-Induced Sweating Syndrome.

Additional gene information for LOC100130987 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 LOC100130987 Gene

Genomics for LOC100130987 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LOC100130987 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 LOC100130987 on the GeneHancer Hub at the UCSC Golden Path

Top Transcription factor binding sites by QIAGEN in the LOC100130987 gene promoter:
  • AREB6
  • c-Ets-1
  • C/EBPbeta
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • Nkx5-1
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for LOC100130987 Gene

Latest Assembly
chr11:67,317,639-67,391,893
(GRCh38/hg38)
Size:
74,255 bases
Orientation:
Plus strand

Previous Assembly
chr11:67,085,310-67,159,158
(GRCh37/hg19 by Entrez Gene)
Size:
73,849 bases
Orientation:
Plus strand

Genomic View for LOC100130987 Gene

Genes around LOC100130987 on UCSC Golden Path with GeneCards custom track
LOC100130987 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Cytogenetic band:
LOC100130987 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LOC100130987 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOC100130987 Gene

Proteins for LOC100130987 Gene

Post-translational modifications for LOC100130987 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC100130987 Gene

Domains & Families for LOC100130987 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC100130987 Gene

Function for LOC100130987 Gene

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 LOC100130987 Gene

Localization for LOC100130987 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 LOC100130987 Gene

Pathways & Interactions for LOC100130987 Gene

PathCards logo

SuperPathways for LOC100130987 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LOC100130987 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC100130987 Gene

Drugs & Compounds for LOC100130987 Gene

No Compound Related Data Available

Transcripts for LOC100130987 Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for LOC100130987 Gene

RNAcentral Transcript ID RNA Type Length (nts) # of Sources Source Identifiers and Annotations
URS0000759B86_9606 lncRNA 850 2

RefSeq: NR_024469,

LNCipedia: lnc-RAD9A-6:3,

URS00008BEE4A_9606 lncRNA 685 3

LncBook: HSALNT0177186,

LNCipedia: lnc-RAD9A-6:1,

NONCODE: NONHSAT022393.2,

URS00008C0025_9606 lncRNA 531 3

LncBook: HSALNT0177202,

LNCipedia: lnc-RAD9A-6:7,

NONCODE: NONHSAT022411.2,

URS00008BCDB7_9606 lncRNA 408 3

LncBook: HSALNT0177185,

LNCipedia: lnc-RAD9A-6:2,

NONCODE: NONHSAT022394.2,

URS00008BAB01_9606 lncRNA 398 3

LncBook: HSALNT0177187,

LNCipedia: lnc-RAD9A-6:5,

NONCODE: NONHSAT022396.2,

LOC100130987 in the GeneCaRNA (GeneCards ncRNA compendium) hub on the UCSC Golden Path

Additional transcripts not in RNAcentral for LOC100130987 Gene

4 NCBI additional mRNA sequence :

Alternative Splicing Database (ASD) splice patterns (SP) for LOC100130987 Gene

No ASD Table

Relevant External Links for LOC100130987 Gene

GeneLoc Exon Structure for
LOC100130987

Expression for LOC100130987 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LOC100130987

SOURCE GeneReport for Unigene cluster for LOC100130987 Gene:

Hs.664585
No Expression Related Data Available

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 LOC100130987 Gene

Orthologs for LOC100130987 Gene

No data available for Orthologs and Evolution for LOC100130987 Gene

Paralogs for LOC100130987 Gene

No data available for Paralogs for LOC100130987 Gene

Variants for LOC100130987 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LOC100130987 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
1027793 Pathogenic: Cold-induced sweating syndrome 2 67,365,264(+) CG/C
NM_013246.3(CLCF1):c.549del (p.Asp183fs)
FRAMESHIFT
rs104894198 Pathogenic: Cold-induced sweating syndrome 2 67,365,493(+) G/T
NM_013246.3(CLCF1):c.321C>A (p.Tyr107Ter)
NONSENSE
rs104894203 Pathogenic: Cold-induced sweating syndrome 2 67,365,224(+) C/A
NM_013246.3(CLCF1):c.590G>T (p.Arg197Leu)
MISSENSE
rs137853934 Pathogenic: Cold-induced sweating syndrome 2 67,367,597(+) A/G
NM_013246.3(CLCF1):c.46T>C (p.Cys16Arg)
MISSENSE
rs137853935 Pathogenic: Cold-induced sweating syndrome 2 67,365,138(+) A/G
NM_013246.3(CLCF1):c.676T>C (p.Ter226Arg)
STOP_LOST

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LOC100130987 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 LOC100130987 Gene

Variant ID Type Subtype PubMed ID
dgv52n111 CNV deletion 26073780
esv23949 CNV loss 19812545
esv2676336 CNV deletion 23128226
esv3361899 CNV duplication 20981092
esv3626710 CNV loss 21293372
nsv1070466 CNV deletion 25765185
nsv1122638 CNV deletion 24896259
nsv367 CNV insertion 18451855
nsv468603 CNV loss 19166990
nsv472408 CNV novel sequence insertion 20440878
nsv474464 CNV novel sequence insertion 20440878
nsv555253 CNV loss 21841781
nsv7220 OTHER inversion 18451855

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 LOC100130987 Gene

Disorders for LOC100130987 Gene

MalaCards: The human disease database

(2) MalaCards diseases for LOC100130987 Gene - From: CVR and GCD

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC100130987: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC100130987 Gene

Publications for LOC100130987 Gene

  1. Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases. (PMID: 20400119) Hahn AF … Boman H (Journal of the neurological sciences 2010) 72
  2. Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient. (PMID: 16782820) Rousseau F … Boman H (Proceedings of the National Academy of Sciences of the United States of America 2006) 72
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3
  4. A germline-specific class of small RNAs binds mammalian Piwi proteins. (PMID: 16751776) Girard A … Carmell MA (Nature 2006) 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3

No data available for Mastermind for LOC100130987 Gene

Products for LOC100130987 Gene

Sources for LOC100130987 Gene