AP002490.1 (novel transcript) - Rat Genome Database

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Gene: AP002490.1 (novel transcript) Homo sapiens
Analyze
Symbol: AP002490.1
Name: novel transcript
RGD ID: 16559139
HGNC Page HGNC:58252
Description: ASSOCIATED WITH Acute promyelocytic leukemia; acute promyelocytic leukemia
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: LOC100128494; NUMA1 antisense RNA 1; NUMA1-AS1; uncharacterized LOC100128494
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38.p14 Ensembl - Human Genome Assembly GRCh38 Ensembl
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381172,014,291 - 72,020,910 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1172,014,291 - 72,020,910 (+)EnsemblGRCh38hg38GRCh38
GRCh371171,725,337 - 71,731,956 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map11q13.4NCBI
CHM1_11171,609,215 - 71,615,817 (+)NCBICHM1_1
T2T-CHM13v2.01171,941,206 - 71,947,807 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
AP002490.1Humanacute promyelocytic leukemia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Acute promyelocytic leukemiaClinVarPMID:25741868 and PMID:28492532

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
AP002490.1HumanAcute promyelocytic leukemia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Acute promyelocytic leukemiaClinVarPMID:25741868 and PMID:28492532


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Variants in AP002490.1
82 total Variants

1 to 10 of 84 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
NM_006185.4(NUMA1):c.1781C>T (p.Ala594Val) single nucleotide variant not specified [RCV004301373] Chr11:72015722 [GRCh38]
Chr11:71726768 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_006185.4(NUMA1):c.1891C>T (p.Arg631Trp) single nucleotide variant not specified [RCV004282341] Chr11:72015612 [GRCh38]
Chr11:71726658 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_006185.4(NUMA1):c.1328G>A (p.Arg443Gln) single nucleotide variant NUMA1-related disorder [RCV003940472]|not provided [RCV000883336] Chr11:72016175 [GRCh38]
Chr11:71727221 [GRCh37]
Chr11:11q13.4		 benign
GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1 copy number loss See cases [RCV000052708] Chr11:71928796..77064521 [GRCh38]
Chr11:71639842..76751808 [GRCh37]
Chr11:71317490..76453216 [NCBI36]
Chr11:11q13.4-13.5		 pathogenic
NM_006185.4(NUMA1):c.3152C>T (p.Ala1051Val) single nucleotide variant not provided [RCV000887998] Chr11:72014351 [GRCh38]
Chr11:71725397 [GRCh37]
Chr11:11q13.4		 benign
GRCh38/hg38 11q13.4(chr11:71164008-72309374)x3 copy number gain See cases [RCV000051910] Chr11:71164008..72309374 [GRCh38]
Chr11:71088949..72020418 [GRCh37]
Chr11:70552702..71698066 [NCBI36]
Chr11:11q13.4		 uncertain significance
GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1 copy number loss See cases [RCV000052709] Chr11:71969881..78232895 [GRCh38]
Chr11:71680927..77943941 [GRCh37]
Chr11:71358575..77621589 [NCBI36]
Chr11:11q13.4-14.1		 pathogenic
NM_006185.4(NUMA1):c.1430A>G (p.Asn477Ser) single nucleotide variant NUMA1-related disorder [RCV003930591]|not provided [RCV000883226] Chr11:72016073 [GRCh38]
Chr11:71727119 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_006185.4(NUMA1):c.725A>G (p.Lys242Arg) single nucleotide variant not provided [RCV000883337] Chr11:72018840 [GRCh38]
Chr11:71729886 [GRCh37]
Chr11:11q13.4		 benign
NM_006185.4(NUMA1):c.2306C>T (p.Ala769Val) single nucleotide variant not specified [RCV004319218] Chr11:72015197 [GRCh38]
Chr11:71726243 [GRCh37]
Chr11:11q13.4		 uncertain significance
1 to 10 of 84 rows

Predicted Target Of
Summary Value
Count of predictions:209
Count of miRNA genes:200
Interacting mature miRNAs:205
Transcripts:ENST00000390800, ENST00000502284
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2423 2788 2244 4922 1706 2320 4 605 1916 447 2254 7218 6422 52 3702 839 1728 1605 170



Ensembl Acc Id: ENST00000502284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1172,014,291 - 72,020,910 (+)Ensembl
RefSeq Acc Id: NR_104178
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381172,014,291 - 72,020,910 (+)NCBI
T2T-CHM13v2.01171,941,206 - 71,947,807 (+)NCBI
Sequence:


Database
Acc Id
Source(s)
COSMIC AP002490.1 COSMIC
Ensembl Genes ENSG00000251143 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000502284 ENTREZGENE
GTEx ENSG00000251143 GTEx
HGNC ID HGNC:58252 ENTREZGENE
Human Proteome Map AP002490.1 Human Proteome Map
NCBI Gene LOC100128494 ENTREZGENE
RNAcentral URS000025588D RNACentral


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2025-02-20 AP002490.1  novel transcript  NUMA1-AS1  NUMA1 antisense RNA 1  Data Merged 737654 PROVISIONAL
2020-06-25 AP002490.1  novel transcript  LOC100128494  uncharacterized LOC100128494  Symbol and/or name change 19259462 PROVISIONAL
2020-06-18 LOC100128494  uncharacterized LOC100128494  AP002490.1  novel transcript  Symbol and/or name change 5135510 APPROVED