LOC112694721 (Sharpr-MPRA regulatory region 8647) - Rat Genome Database

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Gene: LOC112694721 (Sharpr-MPRA regulatory region 8647) Homo sapiens
Analyze
Symbol: LOC112694721
Name: Sharpr-MPRA regulatory region 8647
RGD ID: 38645725
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 K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin). [provided by RefSeq, Jul 2018]
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
GRCh382050,993,112 - 50,993,406 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372049,609,649 - 49,609,943 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map20qNCBI
T2T-CHM13v2.02052,763,687 - 52,763,981 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:27701403  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20q13.13-13.2(chr20:49989123-51495645)x1 copy number loss See cases [RCV000137268] Chr20:49989123..51495645 [GRCh38]
Chr20:48605660..50112183 [GRCh37]
Chr20:48039067..49545590 [NCBI36]
Chr20:20q13.13-13.2		 likely pathogenic
GRCh38/hg38 20q13.13-13.2(chr20:49947237-55875406)x3 copy number gain See cases [RCV000053037] Chr20:49947237..55875406 [GRCh38]
Chr20:48563774..54450462 [GRCh37]
Chr20:47997181..53883869 [NCBI36]
Chr20:20q13.13-13.2		 pathogenic
GRCh38/hg38 20q13.13-13.2(chr20:49731076-51202566)x1 copy number loss See cases [RCV000052767] Chr20:49731076..51202566 [GRCh38]
Chr20:48347613..49819103 [GRCh37]
Chr20:47781020..49252510 [NCBI36]
Chr20:20q13.13-13.2		 pathogenic
GRCh38/hg38 20q13.13-13.2(chr20:50781990-52792847)x1 copy number loss See cases [RCV000137265] Chr20:50781990..52792847 [GRCh38]
Chr20:49398527..51409386 [GRCh37]
Chr20:48831934..50842793 [NCBI36]
Chr20:20q13.13-13.2		 pathogenic
GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3 copy number gain See cases [RCV000053035] Chr20:44787704..64277321 [GRCh38]
Chr20:43416345..62908674 [GRCh37]
Chr20:42849759..62379118 [NCBI36]
Chr20:20q13.12-13.33		 pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC112694721 COSMIC
GTEx LOC112694721 GTEx
Human Proteome Map LOC112694721 Human Proteome Map
NCBI Gene LOC112694721 ENTREZGENE