LOC113225352 (greater CFTR locus negative regulatory element NR19) - Rat Genome Database

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Gene: LOC113225352 (greater CFTR locus negative regulatory element NR19) Homo sapiens
Analyze
Symbol: LOC113225352
Name: greater CFTR locus negative regulatory element NR19
RGD ID: 38612114
Description: This nonconserved genomic region, which is located in the greater CFTR locus on chromosome 7, represents an enhancer-blocking element that was shown to modestly block activation of a gamma-globin promoter by the HS2 beta-globin enhancer when positioned between the enhancer and promoter in transfected K562 cells. [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
GRCh387118,003,046 - 118,003,635 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh377117,643,100 - 117,643,689 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map7qNCBI
T2T-CHM13v2.07119,318,777 - 119,319,366 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:9847074   PMID:18436892  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1 copy number loss See cases [RCV000137522] Chr7:102196924..121278641 [GRCh38]
Chr7:101912320..120918695 [GRCh37]
Chr7:101626924..120705931 [NCBI36]
Chr7:7q22.1-31.31
pathogenic
GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1 copy number loss See cases [RCV000054160] Chr7:113799835..124899218 [GRCh38]
Chr7:113439890..124539272 [GRCh37]
Chr7:113227126..124326508 [NCBI36]
Chr7:7q31.1-31.33
pathogenic
GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1 copy number loss See cases [RCV000138226] Chr7:117326805..134790689 [GRCh38]
Chr7:116966859..134475440 [GRCh37]
Chr7:116754095..134125980 [NCBI36]
Chr7:7q31.2-33
pathogenic
GRCh38/hg38 7q31.31(chr7:117758754-119514263)x3 copy number gain See cases [RCV000137291] Chr7:117758754..119514263 [GRCh38]
Chr7:117398808..119154317 [GRCh37]
Chr7:117186044..118941553 [NCBI36]
Chr7:7q31.31
uncertain significance
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3
pathogenic
GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1 copy number loss See cases [RCV000135311] Chr7:114142477..125840381 [GRCh38]
Chr7:113782532..125480435 [GRCh37]
Chr7:113569768..125267671 [NCBI36]
Chr7:7q31.1-31.33
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3
pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC113225352 COSMIC
GTEx LOC113225352 GTEx
Human Proteome Map LOC113225352 Human Proteome Map
NCBI Gene LOC113225352 ENTREZGENE