LOC113146412 (Sharpr-MPRA regulatory region 2979) - Rat Genome Database

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Gene: LOC113146412 (Sharpr-MPRA regulatory region 2979) Homo sapiens
Analyze
Symbol: LOC113146412
Name: Sharpr-MPRA regulatory region 2979
RGD ID: 38615946
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 8:EnhW, candidate weak enhancer and open chromatin) and K562 erythroleukemia cells (group: K562 Activating DNase unmatched - State 8:EnhW). [provided by RefSeq, Sep 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
GRCh38613,715,597 - 13,715,891 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37613,715,829 - 13,716,123 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map6pNCBI
T2T-CHM13v2.0613,589,123 - 13,589,417 (+)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 6p24.2-23(chr6:10601499-13987316)x1 copy number loss See cases [RCV000142410] Chr6:10601499..13987316 [GRCh38]
Chr6:10601732..13987547 [GRCh37]
Chr6:10709718..14095526 [NCBI36]
Chr6:6p24.2-23		 pathogenic
GRCh38/hg38 6p24.1-22.3(chr6:13311519-16295560)x3 copy number gain See cases [RCV000136133] Chr6:13311519..16295560 [GRCh38]
Chr6:13311751..16295791 [GRCh37]
Chr6:13419730..16403770 [NCBI36]
Chr6:6p24.1-22.3		 pathogenic
GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1 copy number loss See cases [RCV000143782] Chr6:156974..13855925 [GRCh38]
Chr6:156974..13856156 [GRCh37]
Chr6:101974..13964135 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3 copy number gain See cases [RCV000143334] Chr6:152634..14417003 [GRCh38]
Chr6:152634..14417234 [GRCh37]
Chr6:97634..14525213 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1 copy number loss See cases [RCV000142435] Chr6:2862640..16697788 [GRCh38]
Chr6:2862874..16698019 [GRCh37]
Chr6:2807873..16805998 [NCBI36]
Chr6:6p25.2-22.3		 pathogenic
GRCh38/hg38 6p24.1-23(chr6:13232395-13805149)x3 copy number gain See cases [RCV000053340] Chr6:13232395..13805149 [GRCh38]
Chr6:13232627..13805381 [GRCh37]
Chr6:13340606..13913360 [NCBI36]
Chr6:6p24.1-23		 uncertain significance
GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3 copy number gain See cases [RCV000140307] Chr6:155807..17058414 [GRCh38]
Chr6:155807..17058645 [GRCh37]
Chr6:100807..17166624 [NCBI36]
Chr6:6p25.3-22.3		 pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3		 pathogenic
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 copy number gain See cases [RCV000138956] Chr6:3224310..30657190 [GRCh38]
Chr6:3224544..30624967 [GRCh37]
Chr6:3169543..30732946 [NCBI36]
Chr6:6p25.2-21.33		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3 copy number gain See cases [RCV000051869] Chr6:106431..18360595 [GRCh38]
Chr6:106431..18360826 [GRCh37]
Chr6:51431..18468805 [NCBI36]
Chr6:6p25.3-22.3		 pathogenic
GRCh38/hg38 6p24.1-22.3(chr6:13093117-22126024)x3 copy number gain See cases [RCV000051897] Chr6:13093117..22126024 [GRCh38]
Chr6:13093349..22126253 [GRCh37]
Chr6:13201335..22234232 [NCBI36]
Chr6:6p24.1-22.3		 pathogenic
GRCh38/hg38 6p23-22.3(chr6:13684282-16645068)x1 copy number loss See cases [RCV000052179] Chr6:13684282..16645068 [GRCh38]
Chr6:13684514..16645299 [GRCh37]
Chr6:13792493..16753278 [NCBI36]
Chr6:6p23-22.3		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC113146412 COSMIC
GTEx LOC113146412 GTEx
Human Proteome Map LOC113146412 Human Proteome Map
NCBI Gene LOC113146412 ENTREZGENE