LOC107305686 (2q13 recombination region) - Rat Genome Database
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Gene: LOC107305686 (2q13 recombination region) Homo sapiens
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Symbol: LOC107305686
Name: 2q13 recombination region
RGD ID: 38611121
Description: This region has been shown to undergo non-allelic homologous recombination (NAHR) with a similar low-copy repeat region, the 2q12.3 distal recombination region, located about 1.3 Mb upstream of this region, in direct orientation on the reference genome. Deletion of the intervening sequence as a result of NAHR between these recombination regions has been observed. This region overlaps an Alu element and a meiotic recombination hotspot. [provided by RefSeq, Mar 2016]
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
GRCh382109,869,638 - 109,870,749 (+)NCBIGRCh38GRCh38hg38GRCh38
Cytogenetic Map2q13NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References
Additional References at PubMed
PMID:23657883   PMID:25395542  


Genomics


Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_046766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC013271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q13(chr2:108719125-110611314)x3 copy number gain See cases [RCV000137361] Chr2:108719125..110611314 [GRCh38]
Chr2:109335581..111368891 [GRCh37]
Chr2:108702013..111085360 [NCBI36]
Chr2:2q13
uncertain significance
GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3 copy number gain See cases [RCV000138645] Chr2:101710825..110791418 [GRCh38]
Chr2:102327287..111548995 [GRCh37]
Chr2:101693719..111265466 [NCBI36]
Chr2:2q11.2-13
pathogenic
GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3 copy number gain See cases [RCV000053141] Chr2:106696282..110223328 [GRCh38]
Chr2:107312738..110980905 [GRCh37]
Chr2:106679170..110338194 [NCBI36]
Chr2:2q12.2-13
uncertain significance
GRCh38/hg38 2q13(chr2:109623720-110207160)x1 copy number loss See cases [RCV000133772] Chr2:109623720..110207160 [GRCh38]
Chr2:110381297..110964737 [GRCh37]
Chr2:109738586..110322026 [NCBI36]
Chr2:2q13
benign
Single allele duplication Autism spectrum disorder [RCV000208724] Chr2:109696399..110327308 [GRCh38]
Chr2:110453976..111084885 [GRCh37]
Chr2:2q13
uncertain significance
GRCh38/hg38 2q12.2-13(chr2:106516472-110576905)x3 copy number gain See cases [RCV000139569] Chr2:106516472..110576905 [GRCh38]
Chr2:107132928..111334482 [GRCh37]
Chr2:106499360..110857227 [NCBI36]
Chr2:2q12.2-13
uncertain significance
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 2q11.2-13(chr2:97672522-110211318)x3 copy number gain See cases [RCV000052947] Chr2:97672522..110211318 [GRCh38]
Chr2:98288985..110968895 [GRCh37]
Chr2:97655417..110326184 [NCBI36]
Chr2:2q11.2-13
pathogenic
GRCh38/hg38 2q12.2-14.1(chr2:106428663-112379067)x3 copy number gain See cases [RCV000140834] Chr2:106428663..112379067 [GRCh38]
Chr2:107045119..113136644 [GRCh37]
Chr2:106411551..112853115 [NCBI36]
Chr2:2q12.2-14.1
uncertain significance

Additional Information

Database Acc Id Source(s)
COSMIC LOC107305686 COSMIC
GTEx LOC107305686 GTEx
Human Proteome Map LOC107305686 Human Proteome Map
NCBI Gene LOC107305686 ENTREZGENE