LOC110120619 (VISTA enhancer hs222) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: LOC110120619 (VISTA enhancer hs222) Homo sapiens
Analyze
Symbol: LOC110120619
Name: VISTA enhancer hs222
RGD ID: 38645033
Description: This locus represents a conserved genomic element that can function as an enhancer. It can activate a Hsp68 promoter coupled to a LacZ reporter gene in transgenic mice. [provided by RefSeq, Jun 2015]
Type: biological-region
RefSeq Status: PROVISIONAL
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387114,655,054 - 114,656,318 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh377114,295,109 - 114,296,373 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.07115,969,746 - 115,971,010 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:17130149  


Genomics

Variants

.
Variants in LOC110120619
1 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q31.1-31.2(chr7:113569777-115093349)x3 copy number gain See cases [RCV000053574] Chr7:113569777..115093349 [GRCh38]
Chr7:113209832..114733403 [GRCh37]
Chr7:112997068..114520639 [NCBI36]
Chr7:7q31.1-31.2
pathogenic
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(chr7:113245819-114828815)x3 copy number gain See cases [RCV000143728] Chr7:113245819..114828815 [GRCh38]
Chr7:112885874..114468870 [GRCh37]
Chr7:112673110..114256106 [NCBI36]
Chr7:7q31.1
uncertain significance
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 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(chr7:54185-159282390)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 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 7q31.1-31.2(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 LOC110120619 COSMIC
GTEx LOC110120619 GTEx
Human Proteome Map LOC110120619 Human Proteome Map
NCBI Gene LOC110120619 ENTREZGENE