LOC112268479 (Sharpr-MPRA regulatory region 8744) - Rat Genome Database

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Gene: LOC112268479 (Sharpr-MPRA regulatory region 8744) Homo sapiens
Analyze
Symbol: LOC112268479
Name: Sharpr-MPRA regulatory region 8744
RGD ID: 38653560
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 both HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 8:EnhW, candidate weak enhancer and open chromatin). [provided by RefSeq, Mar 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
GRCh381435,331,663 - 35,331,957 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371435,800,869 - 35,801,163 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map14qNCBI
T2T-CHM13v2.01429,519,280 - 29,519,574 (+)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 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1 copy number loss See cases [RCV000142211] Chr14:33880412..42359485 [GRCh38]
Chr14:34349618..42828688 [GRCh37]
Chr14:33419369..41898438 [NCBI36]
Chr14:14q13.1-21.1		 pathogenic
GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 copy number gain See cases [RCV000143748] Chr14:20043513..48642042 [GRCh38]
Chr14:20511672..49111245 [GRCh37]
Chr14:19581512..48180995 [NCBI36]
Chr14:14q11.2-21.3		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3 copy number gain See cases [RCV000053803] Chr14:20000611..38984415 [GRCh38]
Chr14:20468770..39453619 [GRCh37]
Chr14:19538610..38523370 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
GRCh38/hg38 14q13.2-21.2(chr14:35068276-43994777)x1 copy number loss See cases [RCV000137841] Chr14:35068276..43994777 [GRCh38]
Chr14:35537482..44463980 [GRCh37]
Chr14:34607233..43533730 [NCBI36]
Chr14:14q13.2-21.2		 pathogenic
GRCh38/hg38 14q13.1-13.3(chr14:33762166-36191750)x1 copy number loss See cases [RCV000142534] Chr14:33762166..36191750 [GRCh38]
Chr14:34231372..36660956 [GRCh37]
Chr14:33301123..35730707 [NCBI36]
Chr14:14q13.1-13.3		 uncertain significance
GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1 copy number loss See cases [RCV000143063] Chr14:30792271..44685131 [GRCh38]
Chr14:31261477..45154334 [GRCh37]
Chr14:30331228..44224084 [NCBI36]
Chr14:14q12-21.2		 pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3 copy number gain See cases [RCV000143186] Chr14:20022693..44093672 [GRCh38]
Chr14:20490852..44562875 [GRCh37]
Chr14:19560692..43632625 [NCBI36]
Chr14:14q11.2-21.2		 pathogenic
GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3 copy number gain See cases [RCV000052292] Chr14:30670314..44990595 [GRCh38]
Chr14:31139520..45459798 [GRCh37]
Chr14:30209271..44529548 [NCBI36]
Chr14:14q12-21.2		 pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 copy number loss See cases [RCV000051485] Chr14:20196945..45284802 [GRCh38]
Chr14:20665104..45754005 [GRCh37]
Chr14:19734944..44823755 [NCBI36]
Chr14:14q11.2-21.2		 pathogenic
GRCh38/hg38 14q13.1-13.3(chr14:34450934-36880151)x1 copy number loss See cases [RCV000051492] Chr14:34450934..36880151 [GRCh38]
Chr14:34920140..37349356 [GRCh37]
Chr14:33989891..36419107 [NCBI36]
Chr14:14q13.1-13.3		 pathogenic
GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1 copy number loss See cases [RCV000135334] Chr14:30382554..37712341 [GRCh38]
Chr14:30851760..38181546 [GRCh37]
Chr14:29921511..37251297 [NCBI36]
Chr14:14q12-21.1		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1 copy number loss See cases [RCV000051490] Chr14:23548960..41983402 [GRCh38]
Chr14:24018169..42452605 [GRCh37]
Chr14:23088009..41522355 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC112268479 COSMIC
GTEx LOC112268479 GTEx
Human Proteome Map LOC112268479 Human Proteome Map
NCBI Gene LOC112268479 ENTREZGENE