BMPR1B-DT (BMPR1B divergent transcript) - Rat Genome Database

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Gene: BMPR1B-DT (BMPR1B divergent transcript) Homo sapiens
Analyze
Symbol: BMPR1B-DT
Name: BMPR1B divergent transcript
RGD ID: 8694008
HGNC Page HGNC:50864
Description:
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: BMPR1B antisense RNA 1 (head to head); BMPR1B-AS1
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38494,743,668 - 94,757,533 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl494,743,668 - 94,757,681 (-)EnsemblGRCh38hg38GRCh38
GRCh37495,664,819 - 95,678,684 (-)NCBIGRCh37GRCh37hg19GRCh37
Celera492,961,733 - 92,975,594 (-)NCBICelera
Cytogenetic Map4q22.3NCBI
HuRef491,402,021 - 91,416,329 (-)NCBIHuRef
CHM1_1495,641,818 - 95,656,121 (-)NCBICHM1_1
T2T-CHM13v2.0498,058,791 - 98,072,659 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


References
Additional References at PubMed
PMID:35404759  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1 copy number loss See cases [RCV000134977] Chr4:80879777..94809447 [GRCh38]
Chr4:81800931..95730598 [GRCh37]
Chr4:82019955..95949621 [NCBI36]
Chr4:4q21.21-22.3		 pathogenic
GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1 copy number loss See cases [RCV000137269] Chr4:80427023..100855441 [GRCh38]
Chr4:81348177..101776598 [GRCh37]
Chr4:81567201..101995621 [NCBI36]
Chr4:4q21.21-24		 pathogenic
GRCh38/hg38 4q22.3(chr4:94616498-95446867)x3 copy number gain See cases [RCV000138316] Chr4:94616498..95446867 [GRCh38]
Chr4:95537649..96368018 [GRCh37]
Chr4:95756672..96587041 [NCBI36]
Chr4:4q22.3		 uncertain significance
GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1 copy number loss See cases [RCV000140412] Chr4:92610413..101521991 [GRCh38]
Chr4:93531564..102443148 [GRCh37]
Chr4:93750587..102662171 [NCBI36]
Chr4:4q22.1-24		 pathogenic
GRCh38/hg38 4q22.3(chr4:94580110-95188656)x3 copy number gain See cases [RCV000140875] Chr4:94580110..95188656 [GRCh38]
Chr4:95501261..96109807 [GRCh37]
Chr4:95720284..96328830 [NCBI36]
Chr4:4q22.3		 likely benign|uncertain significance
GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3 copy number gain See cases [RCV000143458] Chr4:68686088..95294456 [GRCh38]
Chr4:69551806..96215607 [GRCh37]
Chr4:69234401..96434630 [NCBI36]
Chr4:4q13.2-22.3		 pathogenic
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 copy number gain See cases [RCV000051772] Chr4:51831622..97505618 [GRCh38]
Chr4:52697788..98426769 [GRCh37]
Chr4:52392545..98645792 [NCBI36]
Chr4:4q12-22.3		 pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3		 pathogenic
GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1 copy number loss Chromosome 4q21 deletion syndrome [RCV003327709] Chr4:79123548..99457773 [GRCh38]
Chr4:4q21.21-23		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:36
Count of miRNA genes:36
Interacting mature miRNAs:36
Transcripts:ENST00000510795
Prediction methods:Miranda, Rnahybrid
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium 1 2 497 3
Low 213 169 113 5 9 5 294 166 1820 144 421 115 1 5 281
Below cutoff 984 650 346 67 95 40 862 591 1534 86 166 381 30 184 669

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000510795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl494,743,668 - 94,757,681 (-)Ensembl
RefSeq Acc Id: NR_121610
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38494,743,668 - 94,757,533 (-)NCBI
CHM1_1495,641,809 - 95,655,675 (-)NCBI
T2T-CHM13v2.0498,058,791 - 98,072,659 (-)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC BMPR1B-DT COSMIC
Ensembl Genes ENSG00000249599 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000510795 ENTREZGENE
GTEx ENSG00000249599 GTEx
HGNC ID HGNC:50864 ENTREZGENE
Human Proteome Map BMPR1B-DT Human Proteome Map
NCBI Gene BMPR1B-AS1 ENTREZGENE
RNAcentral URS0000759CD9 RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-03-27 BMPR1B-DT  BMPR1B divergent transcript  BMPR1B-AS1  BMPR1B antisense RNA 1 (head to head)  Symbol and/or name change 5135510 APPROVED