LOC130060207 (ATAC-STARR-seq lymphoblastoid active region 11665) - Rat Genome Database

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Gene: LOC130060207 (ATAC-STARR-seq lymphoblastoid active region 11665) Homo sapiens
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Symbol: LOC130060207
Name: ATAC-STARR-seq lymphoblastoid active region 11665
RGD ID: 329819157
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
GRCh38178,126,955 - 8,127,034 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37178,030,273 - 8,030,352 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.0178,032,330 - 8,032,409 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References
Additional References at PubMed
PMID:35858748  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 copy number gain See cases [RCV000134851] Chr17:5732953..12095349 [GRCh38]
Chr17:5636273..11998666 [GRCh37]
Chr17:5576997..11939391 [NCBI36]
Chr17:17p13.2-12		 pathogenic
NC_000017.11:g.(?_7669603)_(8382316_?)del deletion Diamond-Blackfan anemia [RCV000538057]|Dyskeratosis congenita [RCV001382188]|Li-Fraumeni syndrome [RCV003105948] Chr17:7669603..8382316 [GRCh38]
Chr17:7572921..8285634 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV003327726] Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12		 pathogenic
NC_000017.11:g.(?_7669599)_(8382320_?)del deletion Li-Fraumeni syndrome [RCV000803922] Chr17:7669599..8382320 [GRCh38]
Chr17:7572917..8285638 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.1(chr17:7967712-8490279)x3 copy number gain See cases [RCV000141063] Chr17:7967712..8490279 [GRCh38]
Chr17:7871030..8393597 [GRCh37]
Chr17:7811755..8334322 [NCBI36]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1 copy number loss See cases [RCV000053426] Chr17:7478195..8435524 [GRCh38]
Chr17:7381514..8338842 [GRCh37]
Chr17:7322238..8279567 [NCBI36]
Chr17:17p13.1		 pathogenic

Expression

RNA-SEQ Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC130060207 COSMIC
GTEx LOC130060207 GTEx
Human Proteome Map LOC130060207 Human Proteome Map
NCBI Gene LOC130060207 ENTREZGENE