LOC110120799 (VISTA enhancer hs906) - Rat Genome Database

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Gene: LOC110120799 (VISTA enhancer hs906) Homo sapiens
Analyze
Symbol: LOC110120799
Name: VISTA enhancer hs906
RGD ID: 38672090
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 embryonic hindbrain, limb, midbrain and genital tubercle of transgenic mice. This locus also includes an accessible chromatin subregion that was validated as a silencer based on its ability to repress an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
Type: biological-region
RefSeq Status: REVIEWED
RGD Orthologs
Mouse
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384144,355,661 - 144,357,567 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh374145,276,813 - 145,278,719 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.04147,673,054 - 147,674,960 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:17130149   PMID:35858748  


Genomics

Comparative Map Data
LOC110120799
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384144,355,661 - 144,357,567 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh374145,276,813 - 145,278,719 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.04147,673,054 - 147,674,960 (+)NCBIT2T-CHM13v2.0
LOC108150744
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39881,040,974 - 81,042,080 (+)NCBIGRCm39GRCm39mm39
GRCm38880,314,345 - 80,315,451 (+)NCBIGRCm38GRCm38mm10GRCm38

Variants

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Variants in LOC110120799
1 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1
pathogenic|likely benign
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2
pathogenic|likely benign
GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1 copy number loss See cases [RCV000053321] Chr4:116630862..145429900 [GRCh38]
Chr4:117552018..146351052 [GRCh37]
Chr4:117771466..146570502 [NCBI36]
Chr4:4q26-31.21
pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2
pathogenic
GRCh38/hg38 4q31.21(chr4:143738209-145870474)x1 copy number loss See cases [RCV000136753] Chr4:143738209..145870474 [GRCh38]
Chr4:144659362..146791626 [GRCh37]
Chr4:144878812..147011076 [NCBI36]
Chr4:4q31.21
pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2
pathogenic
GRCh38/hg38 4q31.21(chr4:144112130-144651801)x1 copy number loss See cases [RCV000133979] Chr4:144112130..144651801 [GRCh38]
Chr4:145033283..145572953 [GRCh37]
Chr4:145252733..145792403 [NCBI36]
Chr4:4q31.21
uncertain significance
GRCh38/hg38 4q31.21-31.23(chr4:143588844-148514027)x1 copy number loss See cases [RCV000136520] Chr4:143588844..148514027 [GRCh38]
Chr4:144509997..149435179 [GRCh37]
Chr4:144729447..149654629 [NCBI36]
Chr4:4q31.21-31.23
pathogenic
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2
pathogenic
GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3 copy number gain See cases [RCV000051787] Chr4:140876253..152186578 [GRCh38]
Chr4:141797407..153107730 [GRCh37]
Chr4:142016857..153327180 [NCBI36]
Chr4:4q31.21-31.3
pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2
pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC110120799 COSMIC
GTEx LOC110120799 GTEx
Human Proteome Map LOC110120799 Human Proteome Map
NCBI Gene LOC110120799 ENTREZGENE