LOC123881371 (Sharpr-MPRA regulatory region 11687) - Rat Genome Database

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Gene: LOC123881371 (Sharpr-MPRA regulatory region 11687) Homo sapiens
Analyze
Symbol: LOC123881371
Name: Sharpr-MPRA regulatory region 11687
RGD ID: 151347274
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 repressive element 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 Repressive non-DNase unmatched - State 20:ReprD, Polycomb repression w. Duke DNase/promoter and conservation enriched). [provided by RefSeq, Jan 2022]
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
GRCh386170,434,121 - 170,434,415 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh376170,743,209 - 170,743,503 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map6qNCBI
T2T-CHM13v2.06171,805,554 - 171,805,848 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References
Additional References at PubMed
PMID:27701403  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6q27(chr6:170210927-170714507)x1 copy number loss See cases [RCV000137398] Chr6:170210927..170714507 [GRCh38]
Chr6:170526161..171023595 [GRCh37]
Chr6:170368086..170865520 [NCBI36]
Chr6:6q27		 likely pathogenic|uncertain significance
GRCh38/hg38 6q27(chr6:167145050-170714507)x1 copy number loss See cases [RCV000137523] Chr6:167145050..170714507 [GRCh38]
Chr6:167558538..171023595 [GRCh37]
Chr6:167478528..170865520 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:167760366-170610394)x1 copy number loss See cases [RCV000143582] Chr6:167760366..170610394 [GRCh38]
Chr6:168161046..170919482 [GRCh37]
Chr6:167903895..170761407 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:167963618-170597678)x1 copy number loss See cases [RCV000139526] Chr6:167963618..170597678 [GRCh38]
Chr6:168364298..170906766 [GRCh37]
Chr6:168107147..170748691 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:159825913-170612001)x1 copy number loss See cases [RCV000052211] Chr6:159825913..170612001 [GRCh38]
Chr6:160246945..170921089 [GRCh37]
Chr6:160166935..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1 copy number loss See cases [RCV000052207] Chr6:154118058..170602152 [GRCh38]
Chr6:154439193..170911240 [GRCh37]
Chr6:154480885..170753165 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q27(chr6:166370159-170602152)x1 copy number loss See cases [RCV000052227] Chr6:166370159..170602152 [GRCh38]
Chr6:166783647..170911240 [GRCh37]
Chr6:166703637..170753165 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q26-27(chr6:162042846-170608818)x1 copy number loss See cases [RCV000052223] Chr6:162042846..170608818 [GRCh38]
Chr6:162463878..170917906 [GRCh37]
Chr6:162383868..170759831 [NCBI36]
Chr6:6q26-27		 pathogenic
GRCh38/hg38 6q27(chr6:167924952-170602152)x1 copy number loss See cases [RCV000052229] Chr6:167924952..170602152 [GRCh38]
Chr6:168325632..170911240 [GRCh37]
Chr6:168068481..170753165 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:169688809-170583214)x1 copy number loss See cases [RCV000136831] Chr6:169688809..170583214 [GRCh38]
Chr6:170088905..170892302 [GRCh37]
Chr6:169830830..170734227 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1 copy number loss See cases [RCV000143619] Chr6:160899898..170610394 [GRCh38]
Chr6:161320930..170919482 [GRCh37]
Chr6:161240920..170761407 [NCBI36]
Chr6:6q26-27		 pathogenic
GRCh38/hg38 6q27(chr6:170425647-170567808)x4 copy number gain See cases [RCV000137334] Chr6:170425647..170567808 [GRCh38]
Chr6:170734735..170876896 [GRCh37]
Chr6:170576660..170718821 [NCBI36]
Chr6:6q27		 likely benign|uncertain significance
GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1 copy number loss See cases [RCV000137381] Chr6:154539655..170714507 [GRCh38]
Chr6:154860789..171023595 [GRCh37]
Chr6:154902481..170865520 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q27(chr6:169441378-170612001)x1 copy number loss See cases [RCV000050605] Chr6:169441378..170612001 [GRCh38]
Chr6:169841473..170921089 [GRCh37]
Chr6:169583398..170763014 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:169641704-170612001)x1 copy number loss See cases [RCV000051219] Chr6:169641704..170612001 [GRCh38]
Chr6:170041800..170921089 [GRCh37]
Chr6:169783725..170763014 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:170014772-170714507)x1 copy number loss See cases [RCV000139129] Chr6:170014772..170714507 [GRCh38]
Chr6:170329996..171023595 [GRCh37]
Chr6:170171921..170865520 [NCBI36]
Chr6:6q27		 uncertain significance
GRCh38/hg38 6q27(chr6:168524169-170612001)x1 copy number loss See cases [RCV000050982] Chr6:168524169..170612001 [GRCh38]
Chr6:168924849..170921089 [GRCh37]
Chr6:168667698..170763014 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:164790270-170612001)x1 copy number loss See cases [RCV000135415] Chr6:164790270..170612001 [GRCh38]
Chr6:165203779..170921089 [GRCh37]
Chr6:165123769..170763014 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:160484810-170612011)x1 copy number loss See cases [RCV000134021] Chr6:160484810..170612011 [GRCh38]
Chr6:160905842..170921099 [GRCh37]
Chr6:160825832..170763024 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q26-27(chr6:163420224-170608818)x1 copy number loss See cases [RCV000052225] Chr6:163420224..170608818 [GRCh38]
Chr6:163841256..170917906 [GRCh37]
Chr6:163761246..170759831 [NCBI36]
Chr6:6q26-27		 pathogenic
GRCh38/hg38 6q27(chr6:168180473-170583214)x1 copy number loss See cases [RCV000052230] Chr6:168180473..170583214 [GRCh38]
Chr6:168581153..170892302 [GRCh37]
Chr6:168324002..170734227 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:169021176-170602152)x1 copy number loss See cases [RCV000052243] Chr6:169021176..170602152 [GRCh38]
Chr6:169421271..170911240 [GRCh37]
Chr6:169163196..170753165 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q26-27(chr6:162789915-170602152)x1 copy number loss See cases [RCV000052224] Chr6:162789915..170602152 [GRCh38]
Chr6:163210947..170911240 [GRCh37]
Chr6:163130937..170753165 [NCBI36]
Chr6:6q26-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3 copy number gain See cases [RCV000142594] Chr6:152376338..170612001 [GRCh38]
Chr6:152697473..170921089 [GRCh37]
Chr6:152739166..170763014 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1 copy number loss See cases [RCV000141880] Chr6:152793402..170610394 [GRCh38]
Chr6:153114537..170919482 [GRCh37]
Chr6:153156230..170761407 [NCBI36]
Chr6:6q25.2-27		 pathogenic
GRCh38/hg38 6q27(chr6:170257060-170714507)x1 copy number loss See cases [RCV000137422] Chr6:170257060..170714507 [GRCh38]
Chr6:170566148..171023595 [GRCh37]
Chr6:170408073..170865520 [NCBI36]
Chr6:6q27		 uncertain significance
GRCh38/hg38 6q27(chr6:168802993-170714507)x1 copy number loss See cases [RCV000137643] Chr6:168802993..170714507 [GRCh38]
Chr6:169203088..171023595 [GRCh37]
Chr6:168945013..170865520 [NCBI36]
Chr6:6q27		 likely pathogenic
GRCh38/hg38 6q27(chr6:168881467-170602152)x1 copy number loss See cases [RCV000137746] Chr6:168881467..170602152 [GRCh38]
Chr6:169281562..170911240 [GRCh37]
Chr6:169023487..170753165 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:170282502-170499171)x1 copy number loss See cases [RCV000138722] Chr6:170282502..170499171 [GRCh38]
Chr6:170591590..170808259 [GRCh37]
Chr6:170433515..170650184 [NCBI36]
Chr6:6q27		 uncertain significance
NC_000006.12:g.170299941_170556913dup duplication Primary amenorrhea [RCV000754426] Chr6:170299941..170556913 [GRCh38]
Chr6:170609029..170866001 [GRCh37]
Chr6:6q27		 uncertain significance
GRCh38/hg38 6q27(chr6:168581259-170610394)x1 copy number loss See cases [RCV000140451] Chr6:168581259..170610394 [GRCh38]
Chr6:168981939..170919482 [GRCh37]
Chr6:168724788..170761407 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1 copy number loss See cases [RCV000139636] Chr6:159915390..170714507 [GRCh38]
Chr6:160336422..171023595 [GRCh37]
Chr6:160256412..170865520 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q25.3-27(chr6:160359686-170608818)x1 copy number loss See cases [RCV000052213] Chr6:160359686..170608818 [GRCh38]
Chr6:160780718..170917906 [GRCh37]
Chr6:160700708..170759831 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q27(chr6:167896913-170714507)x1 copy number loss See cases [RCV000140812] Chr6:167896913..170714507 [GRCh38]
Chr6:168297593..171023595 [GRCh37]
Chr6:168040442..170865520 [NCBI36]
Chr6:6q27		 pathogenic
GRCh38/hg38 6q27(chr6:170187559-170610394)x3 copy number gain See cases [RCV000141988] Chr6:170187559..170610394 [GRCh38]
Chr6:170502783..170919482 [GRCh37]
Chr6:170344708..170761407 [NCBI36]
Chr6:6q27		 uncertain significance
GRCh38/hg38 6q25.3-27(chr6:159454639-170612001)x1 copy number loss See cases [RCV000052209] Chr6:159454639..170612001 [GRCh38]
Chr6:159875671..170921089 [GRCh37]
Chr6:159795661..170763014 [NCBI36]
Chr6:6q25.3-27		 pathogenic
GRCh38/hg38 6q26-27(chr6:161349282-170584790)x1 copy number loss Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV003327715] Chr6:161349282..170584790 [GRCh38]
Chr6:6q26-27		 pathogenic

QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1643404BMD3_HBone mineral density QTL 3 (human)2.420.0005Bone mineral density6157563614170805979Human
1643367BW323_HBody weight QTL 323 (human)2.420.0005Body fat amount6157563614170805979Human


Expression

RNA-SEQ Expression


Sequence



Additional Information

Database Acc Id Source(s)
COSMIC LOC123881371 COSMIC
GTEx LOC123881371 GTEx
Human Proteome Map LOC123881371 Human Proteome Map
NCBI Gene LOC123881371 ENTREZGENE