LOC112136104 (Sharpr-MPRA regulatory region 11431) - Rat Genome Database

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Gene: LOC112136104 (Sharpr-MPRA regulatory region 11431) Homo sapiens
Analyze
Symbol: LOC112136104
Name: Sharpr-MPRA regulatory region 11431
RGD ID: 38600607
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 matched - State 12:CtcfO, distal CTCF/candidate insulator with open chromatin) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 13:Ctcf, distal CTCF/candidate insulator without 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
GRCh3812107,134,571 - 107,134,865 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3712107,528,349 - 107,528,643 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map12qNCBI
T2T-CHM13v2.012107,098,209 - 107,098,503 (+)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 12q23.3(chr12:106804832-107556040)x3 copy number gain See cases [RCV000141770] Chr12:106804832..107556040 [GRCh38]
Chr12:107198610..107949817 [GRCh37]
Chr12:105722740..106473947 [NCBI36]
Chr12:12q23.3		 uncertain significance
GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1 copy number loss See cases [RCV000050807] Chr12:105234677..112194686 [GRCh38]
Chr12:105628455..112632490 [GRCh37]
Chr12:104152585..111116873 [NCBI36]
Chr12:12q23.3-24.13		 pathogenic
GRCh38/hg38 12q23.3-24.11(chr12:105644967-108994840)x1 copy number loss See cases [RCV000138537] Chr12:105644967..108994840 [GRCh38]
Chr12:106038745..109432645 [GRCh37]
Chr12:104562875..107917026 [NCBI36]
Chr12:12q23.3-24.11		 uncertain significance
GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3 copy number gain See cases [RCV000142447] Chr12:91044318..109133210 [GRCh38]
Chr12:91438095..109571015 [GRCh37]
Chr12:89962226..108055398 [NCBI36]
Chr12:12q21.33-24.11		 pathogenic
GRCh38/hg38 12q23.1-23.3(chr12:100670616-108583607)x1 copy number loss See cases [RCV000051320] Chr12:100670616..108583607 [GRCh38]
Chr12:101064394..108977383 [GRCh37]
Chr12:99588525..107501512 [NCBI36]
Chr12:12q23.1-23.3		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC112136104 COSMIC
GTEx LOC112136104 GTEx
Human Proteome Map LOC112136104 Human Proteome Map
NCBI Gene LOC112136104 ENTREZGENE