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Aliases for LOC100505549 Gene
Summaries for LOC100505549 Gene
GeneCards Summary for LOC100505549 Gene
LOC100505549 (Uncharacterized LOC100505549) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with LOC100505549 include Familial Intrahepatic Cholestasis and Cholestasis, Progressive Familial Intrahepatic, 1.
Additional gene information for LOC100505549 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 LOC100505549 Gene
Genomics for LOC100505549 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for LOC100505549 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 LOC100505549 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LOC100505549
Genomic Locations for LOC100505549 Gene
Genomic Locations for LOC100505549 Gene
- chr18:57,630,331-57,669,283
- (GRCh38/hg38)
- Size:
- 38,953 bases
- Orientation:
- Plus strand
- chr18:55,297,534-55,336,508
- (GRCh37/hg19)
- Size:
- 38,975 bases
- Orientation:
- Plus strand
Genomic View for LOC100505549 Gene
Genes around LOC100505549 on UCSC Golden Path with GeneCards custom track
LOC100505549 in the GeneCards ncRNA compendium hub on the UCSC Golden Path
- Cytogenetic band:
-
- 18q21.31 by Entrez Gene
LOC100505549 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for LOC100505549 Gene
Proteins for LOC100505549 Gene
Post-translational modifications for LOC100505549 Gene
No Post-translational modifications
Antibody Products
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for LOC100505549
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No data available for DME Specific Peptides for LOC100505549 Gene
Domains & Families for LOC100505549 Gene
No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC100505549 Gene
Function for LOC100505549 Gene
Phenotypes From GWAS Catalog for LOC100505549 Gene
Animal Model Products
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CRISPR Products
-
OriGene CRISPR knockouts for LOC100505549
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-
Santa Cruz Biotechnology (SCBT) CRISPR for LOC100505549
miRNA Products
Inhibitory RNA Products
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LOC100505549
Clone Products
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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 LOC100505549 Gene
Localization for LOC100505549 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 LOC100505549 Gene
Transcripts for LOC100505549 Gene
Non-coding RNA (ncRNA) Transcripts from RNAcentral for LOC100505549 Gene
| RNAcentral Transcript ID | Subcategory | Length (nts) | # of Sources | Source Identifiers and Annotations |
|---|---|---|---|---|
| URS0000EEACA1_9606 | lncRNA | 1960 | 1 |
RefSeq: NR_164148, |
| URS00019FF371_9606 | lncRNA | 2658 | 1 |
ENA: MN297537.1:1..2658:ncRNA, |
| URS0001A15FED_9606 | lncRNA | 2124 | 1 |
ENA: MN297536.1:1..2124:ncRNA, |
LOC100505549 in the GeneCards ncRNA compendium hub on the UCSC Golden Path
Additional transcripts not in RNAcentral for LOC100505549 Gene
- 5 NCBI additional mRNA sequence :
CRISPR Products
-
OriGene CRISPR knockouts for LOC100505549
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-
Santa Cruz Biotechnology (SCBT) CRISPR for LOC100505549
miRNA Products
Inhibitory RNA Products
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LOC100505549
Clone Products
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for LOC100505549
Relevant External Links for LOC100505549 Gene
- GeneLoc Exon Structure for
- LOC100505549
Expression for LOC100505549 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LOC100505549
SOURCE GeneReport for Unigene cluster for LOC100505549 Gene:
Hs.660645
No Expression Related Data Available
Primer Products
Gene Expression Assay Products
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 LOC100505549 Gene
Orthologs for LOC100505549 Gene
No data available for Orthologs and Evolution for LOC100505549 Gene
Paralogs for LOC100505549 Gene
No data available for Paralogs for LOC100505549 Gene
Variants for LOC100505549 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LOC100505549 Gene
| SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 671637 | Likely Benign: not provided | 57,655,404(+) | G/A | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
| 682118 | Likely Benign: not provided | 57,655,209(+) | A/G | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
| 694736 | Uncertain Significance: Intrahepatic cholestasis with episodic jaundice; Cholestasis, progressive familial intrahepatic 1 | 57,667,095(+) | A/T | MISSENSE_VARIANT | |
| 7270 | Pathogenic: Cholestasis, benign recurrent intrahepatic 1 | 57,654,078(+) | G/T | INTRON_VARIANT | |
| 745906 | Likely Benign: not provided | 57,650,388(+) | G/A | SYNONYMOUS_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1027456 | CNV | insertion | 17803354 |
| esv1228761 | CNV | insertion | 17803354 |
| esv2751777 | CNV | gain | 17911159 |
| esv3384921 | CNV | duplication | 20981092 |
| nsv131427 | CNV | deletion | 16902084 |
| nsv2319 | CNV | insertion | 18451855 |
| nsv458086 | CNV | gain | 19166990 |
| nsv458087 | CNV | loss | 19166990 |
| nsv577032 | CNV | gain | 21841781 |
| nsv577033 | CNV | loss | 21841781 |
| nsv833663 | CNV | gain | 17160897 |
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Variation tolerance and Additional Variant Information for LOC100505549 Gene
Disorders for LOC100505549 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| familial intrahepatic cholestasis |
|
|
| cholestasis, progressive familial intrahepatic, 1 |
|
|
| progressive familial intrahepatic cholestasis |
|
|
Search LOC100505549 in MalaCards
View complete list of genes associated with diseases
No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC100505549 Gene
Publications for LOC100505549 Gene
- Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PMID: 22001757) Chambers JC … Kooner JS (Nature genetics 2011) 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
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3
Products for LOC100505549 Gene
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Sources for LOC100505549 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
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- (30) HomoloGene
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- (33) SGD
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- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
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- (44) Atlas
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- (49) Leiden
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- (53) PubMed
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- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
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- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
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- (88) Addgene
- (89) antibodies-online
- (90) CYP
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- (93) PathCards
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- (96) Taconic Biosciences
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- (98) ProteomicsDB
- (99) SCBT
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- (104) diseasecard
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