LOC113219437 (greater CFTR locus negative regulatory element CR2) - Rat Genome Database

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Gene: LOC113219437 (greater CFTR locus negative regulatory element CR2) Homo sapiens
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Symbol: LOC113219437
Name: greater CFTR locus negative regulatory element CR2
RGD ID: 38620261
Description: This conserved genomic region, which is located in the greater CFTR locus on chromosome 7, can function as both a silencer and an enhancer-blocking element. In transfected K562 cells, it showed modest silencing for reporter constructs with an SV40 promoter coupled to the HS2 beta-globin enhancer, and also modest enhancer-blocking activity for constructs with a gamma-globin promoter and HS2 enhancer, when positioned between the enhancer and promoter. [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
GRCh387116,448,434 - 116,448,761 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh377116,088,488 - 116,088,815 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map7qNCBI
T2T-CHM13v2.07117,763,480 - 117,763,807 (+)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 7q31.1-31.31(chr7:114898882-117790123)x1 copy number loss See cases [RCV000142459] Chr7:114898882..117790123 [GRCh38]
Chr7:114538937..117430177 [GRCh37]
Chr7:114326173..117217413 [NCBI36]
Chr7:7q31.1-31.31		 pathogenic
GRCh38/hg38 7q31.2(chr7:115042242-116687714)x3 copy number gain See cases [RCV000053575] Chr7:115042242..116687714 [GRCh38]
Chr7:114682296..116327768 [GRCh37]
Chr7:114469532..116115004 [NCBI36]
Chr7:7q31.2		 pathogenic
GRCh38/hg38 7q31.1-31.2(chr7:114389395-117253741)x1 copy number loss See cases [RCV000143413] Chr7:114389395..117253741 [GRCh38]
Chr7:114029450..116893795 [GRCh37]
Chr7:113816686..116681031 [NCBI36]
Chr7:7q31.1-31.2		 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 7q31.1-31.33(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 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 7q31.2-36.3(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
GRCh38/hg38 7q31.1-31.2(chr7:113604778-117643891) copy number loss Autism spectrum disorder [RCV003883405] Chr7:113604778..117643891 [GRCh38]
Chr7:7q31.1-31.2		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC113219437 COSMIC
GTEx LOC113219437 GTEx
Human Proteome Map LOC113219437 Human Proteome Map
NCBI Gene LOC113219437 ENTREZGENE