LOC129389359 (MPRA-validated peak5456 silencer) - Rat Genome Database

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Gene: LOC129389359 (MPRA-validated peak5456 silencer) Homo sapiens
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Symbol: LOC129389359
Name: MPRA-validated peak5456 silencer
RGD ID: 329341649
Description: This genomic region was identified as an uncharacterized cis-regulatory element (CRE) that lacked a promoter, enhancer or CTCF-bound insulator chromatin signature. It was validated as a silencer that could repress activity of a super core promoter (SCP1) by STARR-seq massively parallel reporter assays (MPRAs) in K562 erythroleukemia cells. [provided by RefSeq, Apr 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
GRCh385126,624,803 - 126,625,003 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh375125,960,495 - 125,960,695 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.05127,141,668 - 127,141,868 (+)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:32103011  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000005.10:g.126508361_126769360del deletion Adult-onset autosomal dominant demyelinating leukodystrophy [RCV001837737] Chr5:126508361..126769360 [GRCh38]
Chr5:5q23.2		 pathogenic
GRCh38/hg38 5q23.2(chr5:122479268-126833168)x1 copy number loss See cases [RCV000136633] Chr5:122479268..126833168 [GRCh38]
Chr5:121814963..126168860 [GRCh37]
Chr5:121842862..126196759 [NCBI36]
Chr5:5q23.2		 uncertain significance
GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1 copy number loss See cases [RCV000135549] Chr5:111463016..127193038 [GRCh38]
Chr5:110798714..126528730 [GRCh37]
Chr5:110826613..126556629 [NCBI36]
Chr5:5q22.1-23.2		 pathogenic
GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1 copy number loss See cases [RCV000139235] Chr5:110687442..130103838 [GRCh38]
Chr5:110023143..129439531 [GRCh37]
Chr5:110051042..129467430 [NCBI36]
Chr5:5q22.1-23.3		 pathogenic|uncertain significance
GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1 copy number loss See cases [RCV000052109] Chr5:126438406..132873967 [GRCh38]
Chr5:125774098..132209659 [GRCh37]
Chr5:125801997..132237558 [NCBI36]
Chr5:5q23.2-31.1		 pathogenic
GRCh38/hg38 5q23.1-23.2(chr5:120739630-126823984)x1 copy number loss See cases [RCV000052108] Chr5:120739630..126823984 [GRCh38]
Chr5:120075325..126159676 [GRCh37]
Chr5:120103224..126187575 [NCBI36]
Chr5:5q23.1-23.2		 pathogenic
GRCh38/hg38 5q23.2(chr5:125372857-126839014)x3 copy number gain See cases [RCV000137993] Chr5:125372857..126839014 [GRCh38]
Chr5:124708550..126174706 [GRCh37]
Chr5:124736449..126202605 [NCBI36]
Chr5:5q23.2		 likely benign|uncertain significance
GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1 copy number loss See cases [RCV000139893] Chr5:90374606..128076423 [GRCh38]
Chr5:89670423..127412115 [GRCh37]
Chr5:89706179..127440014 [NCBI36]
Chr5:5q14.3-23.3		 pathogenic
GRCh38/hg38 5q23.2-23.3(chr5:126458947-128537986)x1 copy number loss See cases [RCV000052110] Chr5:126458947..128537986 [GRCh38]
Chr5:125794639..127873679 [GRCh37]
Chr5:125822538..127901578 [NCBI36]
Chr5:5q23.2-23.3		 pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2		 pathogenic
GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1 copy number loss See cases [RCV000053525] Chr5:116677122..132686163 [GRCh38]
Chr5:116012818..132021855 [GRCh37]
Chr5:116040717..132049754 [NCBI36]
Chr5:5q23.1-31.1		 pathogenic
GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1 copy number loss See cases [RCV000143746] Chr5:91411708..131319563 [GRCh38]
Chr5:90707525..130655256 [GRCh37]
Chr5:90743281..130683155 [NCBI36]
Chr5:5q14.3-31.1		 pathogenic

Expression

RNA-SEQ Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC129389359 COSMIC
GTEx LOC129389359 GTEx
Human Proteome Map LOC129389359 Human Proteome Map
NCBI Gene LOC129389359 ENTREZGENE