LOC106867047 (origin of replication upstream of MYC) - Rat Genome Database

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Gene: LOC106867047 (origin of replication upstream of MYC) Homo sapiens
Analyze
Symbol: LOC106867047
Name: origin of replication upstream of MYC
RGD ID: 38603203
Description: This region contains multiple sequences that can function as replication origins. These origins show activity in the endogenous context, in ectopic locations, and on plasmids. Binding of D-tyrosyl-tRNA deacylase 1 (Dtd1) to an element known as the DUE (DNA unwinding element) results in recruitment of members of the origin recognition complex as well as associated replication factors, leading to initiation of DNA synthesis. This region contains multiple DNase I hypersensitive sites and sequences that may adopt non-canonical structures. However, unlike some mammalian origins, this sequence is not significantly methylated. Multiple promoters of the MYC (v-myc avian myelocytomatosis viral oncogene homolog) gene are also located in this vicinity; transcription in this region may interfere with replication origin activity. [provided by RefSeq, Jan 2016]
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
GRCh388127,733,744 - 127,736,141 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378128,745,990 - 128,748,387 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map8q24NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:1324192   PMID:1448097   PMID:1545807   PMID:1549367   PMID:1942068   PMID:2157194   PMID:2201906   PMID:2216716   PMID:2686984   PMID:2710118   PMID:2717410   PMID:2834731  
PMID:2853702   PMID:3033665   PMID:3053161   PMID:3856876   PMID:6321164   PMID:6327064   PMID:6414718   PMID:6714223   PMID:7626216   PMID:7794903   PMID:7799437   PMID:7838710  
PMID:7935372   PMID:8012384   PMID:8041609   PMID:8134115   PMID:8657570   PMID:8816489   PMID:9153414   PMID:9356241   PMID:9584187   PMID:9809750   PMID:10409757   PMID:10464318  
PMID:10861842   PMID:11500928   PMID:12589000   PMID:15190069   PMID:15542830   PMID:15653633   PMID:15653697   PMID:15910003   PMID:16809765   PMID:17226771   PMID:17668008   PMID:18072282  
PMID:20065034   PMID:22134836   PMID:23658226  


Genomics

Comparative Map Data
LOC106867047
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388127,733,744 - 127,736,141 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378128,745,990 - 128,748,387 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map8q24NCBI
LOC107197956
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391561,855,221 - 61,856,917 (+)NCBIGRCm39mm39
GRCm381561,983,372 - 61,985,068 (+)NCBIGRCm38GRCm38mm10GRCm38


Expression


Sequence



Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3 copy number gain See cases [RCV000133620] Chr8:122454392..128513076 [GRCh38]
Chr8:123466631..129525322 [GRCh37]
Chr8:123535812..129594504 [NCBI36]
Chr8:8q24.13-24.21
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q24.21-24.23(chr8:126626164-137169427)x1 copy number loss See cases [RCV000054306] Chr8:126626164..137169427 [GRCh38]
Chr8:127638409..138181670 [GRCh37]
Chr8:127707591..138250852 [NCBI36]
Chr8:8q24.21-24.23
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q24.21(chr8:127118340-127858575)x3 copy number gain See cases [RCV000050763] Chr8:127118340..127858575 [GRCh38]
Chr8:128130585..128870821 [GRCh37]
Chr8:128199767..128940003 [NCBI36]
Chr8:8q24.21
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic

Additional Information

Database Acc Id Source(s)
COSMIC LOC106867047 COSMIC
GTEx LOC106867047 GTEx
Human Proteome Map LOC106867047 Human Proteome Map
NCBI Gene LOC106867047 ENTREZGENE