LOC113219444 (greater CFTR locus negative regulatory element CR9) - Rat Genome Database

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Gene: LOC113219444 (greater CFTR locus negative regulatory element CR9) Homo sapiens
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Symbol: LOC113219444
Name: greater CFTR locus negative regulatory element CR9
RGD ID: 38665815
Description: This conserved genomic region, which overlaps the 3' exon of the CAPZA2 (capping actin protein of muscle Z-line subunit alpha 2) gene in the greater CFTR locus on chromosome 7, represents a silencer that was shown to modestly repress both an SV40 promoter and a gamma-globin promoter coupled to the HS2 beta-globin enhancer 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
GRCh387116,918,230 - 116,918,944 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh377116,558,284 - 116,558,998 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map7qNCBI
T2T-CHM13v2.07118,233,396 - 118,234,110 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References
Additional References at PubMed
PMID:12853948   PMID:18436892  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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
NC_000007.13:g.(?_116339129)_(117144427_?)dup duplication Papillary renal cell carcinoma type 1 [RCV000707756] Chr7:116699075..117504373 [GRCh38]
Chr7:116339129..117144427 [GRCh37]
Chr7:7q31.2		 uncertain 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 7q31.1-31.2(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(chr7:53985-159282531)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 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 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(chr7:116868268-117565389) copy number gain Anomalous pulmonary venous return [RCV003223570] Chr7:116868268..117565389 [GRCh38]
Chr7:7q31.2		 uncertain significance
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
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 LOC113219444 COSMIC
GTEx LOC113219444 GTEx
Human Proteome Map LOC113219444 Human Proteome Map
NCBI Gene LOC113219444 ENTREZGENE