AC013271.1 (novel transcript) - Rat Genome Database
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Gene: AC013271.1 (novel transcript) Homo sapiens
Analyze
Symbol: AC013271.1
Name: novel transcript
RGD ID: 16570406
Description: ASSOCIATED WITH autism spectrum disorder; INTERACTS WITH mercury dibromide; valproic acid
Type: ncrna
RefSeq Status: VALIDATED
Also known as: LIMS3-LOC440895; LIMS3-LOC440895 readthrough
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38.p13 Ensembl - Human Genome Assembly GRCh38 Ensembl
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2109,898,432 - 109,968,557 (+)EnsemblGRCh38hg38GRCh38
GRCh382109,898,432 - 109,968,574 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372110,656,009 - 110,726,151 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map2q13NCBI
HuRef2104,221,361 - 104,234,515 (-)NCBIHuRef
CHM1_12110,676,188 - 111,028,361 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
References
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:20967262  


Genomics


Expression


Sequence


Reference Sequences
RefSeq Acc Id: ENST00000638162   ⟹   ENSP00000490440
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2109,898,691 - 109,934,429 (+)Ensembl
RefSeq Acc Id: ENST00000640669   ⟹   ENSP00000492114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2109,898,432 - 109,968,557 (+)Ensembl
RefSeq Acc Id: NR_027145
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382109,898,432 - 109,968,574 (+)NCBI
Sequence:

Clinical Variants
Name Type Condition(s) Position(s) Clinical 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 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
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 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(chr2:108719125-110611314)x3 copy number gain See cases [RCV000137361] Chr2:108719125..110611314 [GRCh38]
Chr2:109335581..111368891 [GRCh37]
Chr2:108702013..111085360 [NCBI36]
Chr2:2q13		 uncertain significance
Single allele duplication Autism spectrum disorder [RCV000208724] Chr2:109696399..110327308 [GRCh38]
Chr2:110453976..111084885 [GRCh37]
Chr2:2q13		 uncertain significance
GRCh38/hg38 2q13(chr2:109936618-110452159)x1 copy number loss See cases [RCV000053606] Chr2:109936618..110452159 [GRCh38]
Chr2:110694195..111209736 [GRCh37]
Chr2:110051484..110644273 [NCBI36]
Chr2:2q13		 benign
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 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 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
GRCh38/hg38 2q13(chr2:109959903-110360538)x3 copy number gain See cases [RCV000134235] Chr2:109959903..110360538 [GRCh38]
Chr2:110717480..111118115 [GRCh37]
Chr2:110074769..110552653 [NCBI36]
Chr2:2q13		 benign

Additional Information

Database Acc Id Source(s)
COSMIC AC013271.1 COSMIC
Ensembl Genes ENSG00000284337 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000640669 ENTREZGENE
GTEx ENSG00000284337 GTEx
Human Proteome Map AC013271.1 Human Proteome Map
NCBI Gene LIMS3-LOC440895 ENTREZGENE
RNAcentral URS000075E1B9 RNACentral
UniGene Hs.535619 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-06-25 AC013271.1  novel transcript  LIMS3-LOC440895  LIMS3-LOC440895 readthrough  Symbol and/or name change 19259462 PROVISIONAL
2020-06-18 LIMS3-LOC440895  LIMS3-LOC440895 readthrough  AC013271.1  novel transcript  Symbol and/or name change 5135510 APPROVED