LOC129934714 (ATAC-STARR-seq lymphoblastoid active region 16485) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: LOC129934714 (ATAC-STARR-seq lymphoblastoid active region 16485) Homo sapiens
Analyze
Symbol: LOC129934714
Name: ATAC-STARR-seq lymphoblastoid active region 16485
RGD ID: 329404739
Description: This genomic sequence represents an accessible chromatin region that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
Type: biological-region
RefSeq Status: REVIEWED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Genome Annotation Status: not in current annotation release
Position: No map positions available.


Disease Annotations     Click to see Annotation Detail View

References
Additional References at PubMed
PMID:35858748  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000002.12:g.124348648_129410245del deletion See cases [RCV001568390] Chr2:124348648..129410245 [GRCh38]
Chr2:2q14.3-21.1		 not provided
GRCh38/hg38 2q14.3(chr2:123169989-128460075)x1 copy number loss See cases [RCV000135455] Chr2:123169989..128460075 [GRCh38]
Chr2:123927565..129217649 [GRCh37]
Chr2:123644035..128934119 [NCBI36]
Chr2:2q14.3		 pathogenic
GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1 copy number loss See cases [RCV000136714] Chr2:123445762..140592538 [GRCh38]
Chr2:124203338..141350107 [GRCh37]
Chr2:123919808..141066577 [NCBI36]
Chr2:2q14.3-22.1		 pathogenic
NC_000002.11:g.(?_127815029)_(127864539_?)dup duplication Myopathy, centronuclear, 2 [RCV000707869] Chr2:127057453..127106963 [GRCh38]
Chr2:127815029..127864539 [GRCh37]
Chr2:2q14.3		 uncertain significance
GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1 copy number loss See cases [RCV000054058] Chr2:118086324..134964738 [GRCh38]
Chr2:118843900..135722308 [GRCh37]
Chr2:118560370..135438778 [NCBI36]
Chr2:2q14.1-21.3		 pathogenic
GRCh38/hg38 2q14.3(chr2:121824798-128870804)x1 copy number loss See cases [RCV000054059] Chr2:121824798..128870804 [GRCh38]
Chr2:122582374..129628378 [GRCh37]
Chr2:122298844..129344848 [NCBI36]
Chr2:2q14.3		 pathogenic
GRCh38/hg38 2q14.3(chr2:122324343-128371704)x1 copy number loss See cases [RCV000054060] Chr2:122324343..128371704 [GRCh38]
Chr2:123081919..129129278 [GRCh37]
Chr2:122798389..128845748 [NCBI36]
Chr2:2q14.3		 pathogenic
GRCh38/hg38 2q14.3-21.1(chr2:127063206-130527454)x3 copy number gain See cases [RCV000138369] Chr2:127063206..130527454 [GRCh38]
Chr2:127820782..131285027 [GRCh37]
Chr2:127537252..131001497 [NCBI36]
Chr2:2q14.3-21.1		 uncertain significance
GRCh38/hg38 2q14.3-21.1(chr2:122847356-129545581)x1 copy number loss See cases [RCV000137467] Chr2:122847356..129545581 [GRCh38]
Chr2:123604932..130303154 [GRCh37]
Chr2:123321402..130019624 [NCBI36]
Chr2:2q14.3-21.1		 likely pathogenic
GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1 copy number loss See cases [RCV000141584] Chr2:115302067..129071130 [GRCh38]
Chr2:116059643..129828703 [GRCh37]
Chr2:115776113..129545173 [NCBI36]
Chr2:2q14.1-14.3		 pathogenic

Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_167731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles


Additional Information

Database Acc Id Source(s)
COSMIC LOC129934714 COSMIC
GTEx LOC129934714 GTEx
Human Proteome Map LOC129934714 Human Proteome Map
NCBI Gene LOC129934714 ENTREZGENE