LOC111429615 (HNF4 motif-containing MPRA enhancer 213) - Rat Genome Database

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Gene: LOC111429615 (HNF4 motif-containing MPRA enhancer 213) Homo sapiens
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Symbol: LOC111429615
Name: HNF4 motif-containing MPRA enhancer 213
RGD ID: 38663473
Description: This genomic region was predicted to be a cell type-specific enhancer based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It was validated as a functional enhancer by high-throughput massively parallel reporter assays (MPRAs) in liver carcinoma HepG2 cells. This enhancer contains a conserved motif for the HNF4 activator. Mutation of this motif results in reduced enhancer activity. [provided by RefSeq, Nov 2017]
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
GRCh3863,410,659 - 3,410,803 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3763,410,893 - 3,411,037 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map6pNCBI
T2T-CHM13v2.063,279,442 - 3,279,586 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


PMID:21441907   PMID:23512712  



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1 to 10 of 28 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 6p25.3-25.1(chr6:156974-4907692)x1 copy number loss See cases [RCV000142304] Chr6:156974..4907692 [GRCh38]
Chr6:156974..4907926 [GRCh37]
Chr6:101974..4852925 [NCBI36]
Chr6:6p25.3-25.1		 pathogenic
GRCh38/hg38 6p25.3-25.2(chr6:163083-3459607)x1 copy number loss See cases [RCV000138184] Chr6:163083..3459607 [GRCh38]
Chr6:163083..3459841 [GRCh37]
Chr6:108083..3404840 [NCBI36]
Chr6:6p25.3-25.2		 pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:156974-4946857)x3 copy number gain See cases [RCV000143375] Chr6:156974..4946857 [GRCh38]
Chr6:156974..4947091 [GRCh37]
Chr6:101974..4892090 [NCBI36]
Chr6:6p25.3-25.1		 uncertain significance
GRCh38/hg38 6p25.3-25.1(chr6:152634-5315679)x1 copy number loss See cases [RCV000137496] Chr6:152634..5315679 [GRCh38]
Chr6:152634..5315912 [GRCh37]
Chr6:97634..5260911 [NCBI36]
Chr6:6p25.3-25.1		 pathogenic
GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3 copy number gain See cases [RCV000134022] Chr6:164360..13339881 [GRCh38]
Chr6:164360..13340113 [GRCh37]
Chr6:109360..13448092 [NCBI36]
Chr6:6p25.3-24.1		 pathogenic
GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3 copy number gain See cases [RCV000143334] Chr6:152634..14417003 [GRCh38]
Chr6:152634..14417234 [GRCh37]
Chr6:97634..14525213 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3 copy number gain See cases [RCV000138716] Chr6:152634..6027547 [GRCh38]
Chr6:152634..6027780 [GRCh37]
Chr6:97634..5972779 [NCBI36]
Chr6:6p25.3-25.1		 likely pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1 copy number loss See cases [RCV000138717] Chr6:152634..6027547 [GRCh38]
Chr6:152634..6027780 [GRCh37]
Chr6:97634..5972779 [NCBI36]
Chr6:6p25.3-25.1		 pathogenic
GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3 copy number gain See cases [RCV000136567] Chr6:163083..9525496 [GRCh38]
Chr6:163083..9525729 [GRCh37]
Chr6:108083..9633715 [NCBI36]
Chr6:6p25.3-24.3		 pathogenic
GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1 copy number loss See cases [RCV000142435] Chr6:2862640..16697788 [GRCh38]
Chr6:2862874..16698019 [GRCh37]
Chr6:2807873..16805998 [NCBI36]
Chr6:6p25.2-22.3		 pathogenic
1 to 10 of 28 rows

The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
2289408BW324_HBody weight QTL 324 (human)3.150.0001Body fat amount6120803913Human
1643418BW282_HBody Weight QTL 282 (human)2.070.001Body weight6119321359Human
2289435BMD4_HBone mineral density QTL 4 (human)3.150.0001Bone mineral density6120803913Human
2292824PRSTS5_HProstate tumor susceptibility QTL 5 (human)Prostate tumor susceptibility6119232373Human
2289320BW390_HBody weight QTL 390 (human)2.13Body weightBMI6119321359Human
1643495BW291_HBody Weight QTL 291 (human)2.13Body weightBMI6119321359Human
RefSeq Transcripts NG_055892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AL160398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles



Database
Acc Id
Source(s)
COSMIC LOC111429615 COSMIC
GTEx LOC111429615 GTEx
Human Proteome Map LOC111429615 Human Proteome Map
NCBI Gene LOC111429615 ENTREZGENE