LOC112841607 (Sharpr-MPRA regulatory region 4718) - Rat Genome Database

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Gene: LOC112841607 (Sharpr-MPRA regulatory region 4718) Homo sapiens
Analyze
Symbol: LOC112841607
Name: Sharpr-MPRA regulatory region 4718
RGD ID: 38649988
Description: This genomic sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It was validated as a functional enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Jul 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
GRCh38296,225,111 - 96,225,405 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37296,890,849 - 96,891,143 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map2qNCBI
T2T-CHM13v2.0296,731,719 - 96,732,013 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
schizophrenia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References
Additional References at PubMed
PMID:27701403  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q11.2(chr2:96073560-97513144)x1 copy number loss See cases [RCV000142800] Chr2:96073560..97513144 [GRCh38]
Chr2:96739308..98066294 [GRCh37]
Chr2:96103035..97496039 [NCBI36]
Chr2:2q11.2		 pathogenic
GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3 copy number gain See cases [RCV000138012] Chr2:95337458..99072953 [GRCh38]
Chr2:96003206..99689416 [GRCh37]
Chr2:95366933..99055848 [NCBI36]
Chr2:2q11.1-11.2		 uncertain significance
GRCh38/hg38 2q11.1-11.2(chr2:95810453-97024341)x3 copy number gain See cases [RCV000053137] Chr2:95810453..97024341 [GRCh38]
Chr2:96476201..97690078 [GRCh37]
Chr2:95839928..97053805 [NCBI36]
Chr2:2q11.1-11.2		 uncertain significance
GRCh38/hg38 2q11.2(chr2:96066771-97285797)x3 copy number gain See cases [RCV000142146] Chr2:96066771..97285797 [GRCh38]
Chr2:96732519..98079569 [GRCh37]
Chr2:96096246..97432433 [NCBI36]
Chr2:2q11.2		 uncertain significance
GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x1 copy number loss See cases [RCV000134141] Chr2:95879602..97029672 [GRCh38]
Chr2:96545350..97695409 [GRCh37]
Chr2:95909077..97059136 [NCBI36]
Chr2:2q11.1-11.2		 pathogenic
GRCh38/hg38 2q11.1-11.2(chr2:95493468-96977610)x3 copy number gain See cases [RCV000133839] Chr2:95493468..96977610 [GRCh38]
Chr2:96159216..97643347 [GRCh37]
Chr2:95522943..97007074 [NCBI36]
Chr2:2q11.1-11.2		 uncertain significance
GRCh38/hg38 2q11.1-11.2(chr2:95879602-97029672)x3 copy number gain See cases [RCV000050366] Chr2:95879602..97029672 [GRCh38]
Chr2:96545350..97695409 [GRCh37]
Chr2:95909077..97059136 [NCBI36]
Chr2:2q11.1-11.2		 uncertain significance
GRCh38/hg38 2q11.2(chr2:96100816-97285797)x3 copy number gain See cases [RCV000142814] Chr2:96100816..97285797 [GRCh38]
Chr2:96766564..98013954 [GRCh37]
Chr2:96130291..97380093 [NCBI36]
Chr2:2q11.2		 uncertain significance
GRCh38/hg38 2q11.1-11.2(chr2:95766541-97589743)x3 copy number gain See cases [RCV000137817] Chr2:95766541..97589743 [GRCh38]
Chr2:96432289..98206206 [GRCh37]
Chr2:95796016..97572638 [NCBI36]
Chr2:2q11.1-11.2		 uncertain significance
GRCh38/hg38 2q11.1-11.2(chr2:95916534-97024341)x3 copy number gain See cases [RCV000053139] Chr2:95916534..97024341 [GRCh38]
Chr2:96582282..97690078 [GRCh37]
Chr2:95946009..97053805 [NCBI36]
Chr2:2q11.1-11.2		 uncertain significance
GRCh38/hg38 2q11.1-11.2(chr2:95806265-97285797)x3 copy number gain See cases [RCV000053136] Chr2:95806265..97285797 [GRCh38]
Chr2:96472013..98013866 [GRCh37]
Chr2:95835740..97380005 [NCBI36]
Chr2:2q11.1-11.2		 uncertain significance
GRCh38/hg38 2q11.1-11.2(chr2:95879602-97285797)x1 copy number loss See cases [RCV000051260] Chr2:95879602..97285797 [GRCh38]
Chr2:96545350..98013866 [GRCh37]
Chr2:95909077..97380005 [NCBI36]
Chr2:2q11.1-11.2		 pathogenic
GRCh38/hg38 2q11.1-11.2(chr2:95880668-97131646)x3 copy number gain See cases [RCV000053138] Chr2:95880668..97131646 [GRCh38]
Chr2:96546416..97797383 [GRCh37]
Chr2:95910143..97161110 [NCBI36]
Chr2:2q11.1-11.2		 uncertain significance
GRCh38/hg38 2q11.2(chr2:96100812-97154835)x1 copy number loss See cases [RCV000137012] Chr2:96100812..97154835 [GRCh38]
Chr2:96766560..97820572 [GRCh37]
Chr2:96130287..97184299 [NCBI36]
Chr2:2q11.2		 uncertain significance
GRCh38/hg38 2q11.2(chr2:96100812-97285797)x1 copy number loss See cases [RCV000051137] Chr2:96100812..97285797 [GRCh38]
Chr2:96766560..98013866 [GRCh37]
Chr2:96130287..97380005 [NCBI36]
Chr2:2q11.2		 pathogenic
GRCh38/hg38 2q11.2(chr2:96073560-97589743)x3 copy number gain See cases [RCV000143142] Chr2:96073560..97589743 [GRCh38]
Chr2:96739308..98206206 [GRCh37]
Chr2:96103035..97572638 [NCBI36]
Chr2:2q11.2		 likely benign
GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3 copy number gain See cases [RCV000052945] Chr2:91443218..102334856 [GRCh38]
Chr2:91617683..102951316 [GRCh37]
Chr2:90981410..102317748 [NCBI36]
Chr2:2p11.2-q11.2		 pathogenic
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 copy number gain See cases [RCV000141075] Chr2:94678532..110602409 [GRCh38]
Chr2:95344257..111359986 [GRCh37]
Chr2:94707984..111076455 [NCBI36]
Chr2:2q11.1-13		 pathogenic
GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3 copy number gain See cases [RCV000052946] Chr2:94817406..103252396 [GRCh38]
Chr2:95618109..103868854 [GRCh37]
Chr2:94846878..103235286 [NCBI36]
Chr2:2q11.1-12.1		 pathogenic
NC_000002.12:g.(?_96063558)_(97079140_?)del deletion Schizophrenia [RCV000754268] Chr2:96063558..97079140 [GRCh38]
Chr2:2q11.2		 likely pathogenic
GRCh38/hg38 2q11.2(chr2:96073560-97062710)x1 copy number loss See cases [RCV000135343] Chr2:96073560..97062710 [GRCh38]
Chr2:96739308..97728447 [GRCh37]
Chr2:96103035..97092174 [NCBI36]
Chr2:2q11.2		 pathogenic

Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC112841607 COSMIC
GTEx LOC112841607 GTEx
Human Proteome Map LOC112841607 Human Proteome Map
NCBI Gene LOC112841607 ENTREZGENE