LOC120908907 (Sharpr-MPRA regulatory region 1545) - Rat Genome Database

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Gene: LOC120908907 (Sharpr-MPRA regulatory region 1545) Homo sapiens
Analyze
Symbol: LOC120908907
Name: Sharpr-MPRA regulatory region 1545
RGD ID: 125093784
Description: This genomic sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It was validated as a functional enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 13:Ctcf, distal CTCF/candidate insulator without open chromatin). [provided by RefSeq, Mar 2021]
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
GRCh381217,048,367 - 217,048,661 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371217,221,709 - 217,222,003 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map1qNCBI
T2T-CHM13v2.01216,289,451 - 216,289,745 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Usher syndrome  (IAGP)

References
Additional References at PubMed
PMID:27701403  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3 copy number gain See cases [RCV000050981] Chr1:214023812..248918469 [GRCh38]
Chr1:214197155..249212668 [GRCh37]
Chr1:212263778..247179291 [NCBI36]
Chr1:1q32.3-44
pathogenic
GRCh38/hg38 1q41(chr1:215447347-221971832)x3 copy number gain See cases [RCV000051874] Chr1:215447347..221971832 [GRCh38]
Chr1:215620690..222145174 [GRCh37]
Chr1:213687313..220211797 [NCBI36]
Chr1:1q41
pathogenic
Single allele deletion Usher syndrome [RCV000505151] Chr1:216066818..222607612 [GRCh38]
Chr1:216240159..222780953 [GRCh37]
Chr1:1q41
likely pathogenic
GRCh38/hg38 1q32.3-41(chr1:214028574-217327791)x3 copy number gain See cases [RCV000142206] Chr1:214028574..217327791 [GRCh38]
Chr1:214201917..217501133 [GRCh37]
Chr1:212268540..215567756 [NCBI36]
Chr1:1q32.3-41
uncertain significance
GRCh38/hg38 1q41(chr1:215206760-222004068)x1 copy number loss See cases [RCV000050298] Chr1:215206760..222004068 [GRCh38]
Chr1:215380103..222177410 [GRCh37]
Chr1:213446726..220244033 [NCBI36]
Chr1:1q41
pathogenic
GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 copy number gain See cases [RCV000051857] Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11
pathogenic
GRCh38/hg38 1q41(chr1:215206760-222004068)x1 copy number loss See cases [RCV000148255] Chr1:215206760..222004068 [GRCh38]
Chr1:215380103..222177410 [GRCh37]
Chr1:213446726..220244033 [NCBI36]
Chr1:1q41
pathogenic
GRCh38/hg38 1q41(chr1:216396695-217549806)x1 copy number loss See cases [RCV000053952] Chr1:216396695..217549806 [GRCh38]
Chr1:216570037..217723148 [GRCh37]
Chr1:214636660..215789771 [NCBI36]
Chr1:1q41
pathogenic
GRCh38/hg38 1q41(chr1:216518607-219827290)x1 copy number loss See cases [RCV000053953] Chr1:216518607..219827290 [GRCh38]
Chr1:216691949..220000632 [GRCh37]
Chr1:214758572..218067255 [NCBI36]
Chr1:1q41
pathogenic
GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3 copy number gain See cases [RCV000134979] Chr1:209963625..248918469 [GRCh38]
Chr1:210136970..249212668 [GRCh37]
Chr1:208203593..247179291 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 copy number gain See cases [RCV000143727] Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q41(chr1:216598114-218007334)x3 copy number gain See cases [RCV000138050] Chr1:216598114..218007334 [GRCh38]
Chr1:216771456..218180676 [GRCh37]
Chr1:214838079..216247299 [NCBI36]
Chr1:1q41
uncertain significance
GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3 copy number gain See cases [RCV000051861] Chr1:209646207..248931113 [GRCh38]
Chr1:209819552..249225312 [GRCh37]
Chr1:207886175..247191935 [NCBI36]
Chr1:1q32.2-44
pathogenic
GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 copy number gain See cases [RCV000142054] Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12
pathogenic
GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2 copy number loss Orofacial cleft 2 [RCV002481175] Chr1:228006998..228061271 [GRCh38]
Chr1:1q32.2-42.13
association

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC120908907 COSMIC
GTEx LOC120908907 GTEx
Human Proteome Map LOC120908907 Human Proteome Map
NCBI Gene LOC120908907 ENTREZGENE