LOC129934217 (ATAC-STARR-seq lymphoblastoid active region 16130) - Rat Genome Database

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Gene: LOC129934217 (ATAC-STARR-seq lymphoblastoid active region 16130) Homo sapiens
Analyze
Symbol: LOC129934217
Name: ATAC-STARR-seq lymphoblastoid active region 16130
RGD ID: 329404152
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38285,561,467 - 85,561,696 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37285,788,590 - 85,788,819 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.0285,563,526 - 85,563,755 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References
Additional References at PubMed
PMID:35858748  


Genomics

Variants

.
Variants in LOC129934217
5 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3 copy number gain See cases [RCV000134786] Chr2:77025216..90282666 [GRCh38]
Chr2:77252342..91619262 [GRCh37]
Chr2:77105850..90982989 [NCBI36]
Chr2:2p12-11.2		 pathogenic
GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1 copy number loss See cases [RCV000141948] Chr2:85014686..88826619 [GRCh38]
Chr2:85241809..89126132 [GRCh37]
Chr2:85095320..88907247 [NCBI36]
Chr2:2p11.2		 pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
NM_000821.7(GGCX):c.-46C>T single nucleotide variant Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000396803] Chr2:85561474 [GRCh38]
Chr2:85788597 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_000821.6(GGCX):c.-70G>A single nucleotide variant Vitamin K-Dependent Clotting Factors [RCV000355210]|not provided [RCV004694589] Chr2:85561498 [GRCh38]
Chr2:85788621 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_000821.7(GGCX):c.-53C>T single nucleotide variant Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV000300946] Chr2:85561481 [GRCh38]
Chr2:85788604 [GRCh37]
Chr2:2p11.2		 uncertain significance
NM_000821.7(GGCX):c.-46C>G single nucleotide variant Vitamin K-dependent clotting factors, combined deficiency of, type 1 [RCV001141886] Chr2:85561474 [GRCh38]
Chr2:85788597 [GRCh37]
Chr2:2p11.2		 uncertain significance
NC_000002.12:g.85561615C>A single nucleotide variant not provided [RCV001713732] Chr2:85561615 [GRCh38]
Chr2:85788738 [GRCh37]
Chr2:2p11.2		 benign

Expression

RNA-SEQ Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC129934217 COSMIC
GTEx LOC129934217 GTEx
Human Proteome Map LOC129934217 Human Proteome Map
NCBI Gene LOC129934217 ENTREZGENE