ABCC5-AS1 (ABCC5 antisense RNA 1) - Rat Genome Database

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Gene: ABCC5-AS1 (ABCC5 antisense RNA 1) Homo sapiens
Analyze
Symbol: ABCC5-AS1
Name: ABCC5 antisense RNA 1
RGD ID: 6481332
HGNC Page HGNC:40055
Description: ASSOCIATED WITH Currarino syndrome; INTERACTS WITH lipopolysaccharide; S-(1,2-dichlorovinyl)-L-cysteine
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: RP11-315J22.3
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383184,006,338 - 184,011,419 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3184,006,338 - 184,011,419 (+)EnsemblGRCh38hg38GRCh38
GRCh373183,724,126 - 183,729,207 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map3q27.1NCBI
HuRef3181,131,899 - 181,136,800 (+)NCBIHuRef
CHM1_13183,688,255 - 183,693,337 (+)NCBICHM1_1
T2T-CHM13v2.03186,815,822 - 186,820,905 (+)NCBIT2T-CHM13v2.0
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

Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q27.1(chr3:183747088-184238311)x3 copy number gain See cases [RCV000135560] Chr3:183747088..184238311 [GRCh38]
Chr3:183464876..183956099 [GRCh37]
Chr3:184947570..185438793 [NCBI36]
Chr3:3q27.1		 likely benign|uncertain significance
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 copy number gain See cases [RCV000138009] Chr3:176439911..198118383 [GRCh38]
Chr3:176157699..197845254 [GRCh37]
Chr3:177640393..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic|likely benign
GRCh38/hg38 3q27.1(chr3:183816693-184365094)x3 copy number gain See cases [RCV000137910] Chr3:183816693..184365094 [GRCh38]
Chr3:183534481..184082882 [GRCh37]
Chr3:185017175..185565576 [NCBI36]
Chr3:3q27.1		 uncertain significance
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 copy number gain See cases [RCV000138662] Chr3:176168525..198118383 [GRCh38]
Chr3:175886313..197845254 [GRCh37]
Chr3:177369007..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29		 pathogenic
GRCh38/hg38 3q27.1-27.2(chr3:184010704-186288926)x1 copy number loss See cases [RCV000139917] Chr3:184010704..186288926 [GRCh38]
Chr3:183728492..186006715 [GRCh37]
Chr3:185211186..187489409 [NCBI36]
Chr3:3q27.1-27.2		 likely pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q26.33-27.3(chr3:182319764-186443121)x1 copy number loss See cases [RCV000142154] Chr3:182319764..186443121 [GRCh38]
Chr3:182037552..186160910 [GRCh37]
Chr3:183520246..187643604 [NCBI36]
Chr3:3q26.33-27.3		 likely pathogenic
GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3 copy number gain See cases [RCV000142107] Chr3:167717962..188365272 [GRCh38]
Chr3:167435750..188083060 [GRCh37]
Chr3:168918444..189565754 [NCBI36]
Chr3:3q26.1-28		 likely pathogenic
GRCh38/hg38 3q26.33-28(chr3:181138664-192512023)x1 copy number loss See cases [RCV000142019] Chr3:181138664..192512023 [GRCh38]
Chr3:180856452..192229812 [GRCh37]
Chr3:182339146..193712506 [NCBI36]
Chr3:3q26.33-28		 pathogenic
GRCh38/hg38 3q27.1(chr3:183521497-184472038)x1 copy number loss See cases [RCV000143297] Chr3:183521497..184472038 [GRCh38]
Chr3:183239285..184189826 [GRCh37]
Chr3:184721979..185672520 [NCBI36]
Chr3:3q27.1		 likely pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3 copy number gain See cases [RCV000051736] Chr3:178411707..198110319 [GRCh38]
Chr3:178129495..197837190 [GRCh37]
Chr3:179612189..199321587 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q26.33-28(chr3:182678453-188418928)x1 copy number loss See cases [RCV000051607] Chr3:182678453..188418928 [GRCh38]
Chr3:182396241..188136716 [GRCh37]
Chr3:183878935..189619410 [NCBI36]
Chr3:3q26.33-28		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29		 pathogenic
NC_000003.12:g.177772523_185716872dup duplication Currarino triad [RCV000417195] Chr3:177772523..185716872 [GRCh38]
Chr3:3q26.32-27.2		 likely pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29		 pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:141
Count of miRNA genes:140
Interacting mature miRNAs:141
Transcripts:ENST00000422946
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.


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 entire extraembryonic component
High
Medium
Low 20 6 81 9 72 8 19 5 73 21 55 132 2 8 4
Below cutoff 641 513 564 127 409 70 950 548 986 146 458 608 63 362 535 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000422946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3184,006,338 - 184,011,419 (+)Ensembl
RefSeq Acc Id: NR_046570
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383184,006,338 - 184,011,419 (+)NCBI
GRCh373183,724,126 - 183,729,207 (+)NCBI
HuRef3181,131,899 - 181,136,800 (+)NCBI
CHM1_13183,688,255 - 183,693,337 (+)NCBI
T2T-CHM13v2.03186,815,822 - 186,820,905 (+)NCBI
Sequence:
Promoters
RGD ID:15095703
Promoter ID:EPDNEWNC_H545
Type:single initiation site
Name:ABCC5-AS1_1
Description:ABCC5 antisense RNA 1 [Source:HGNC Symbol;Acc:HGNC:40055]
SO ACC ID:SO:0000170
Source:EPDNEWNC (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383184,006,293 - 184,006,353EPDNEWNC

Additional Information

Database Acc Id Source(s)
COSMIC ABCC5-AS1 COSMIC
Ensembl Genes ENSG00000223882 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000422946 ENTREZGENE
GTEx ENSG00000223882 GTEx
HGNC ID HGNC:40055 ENTREZGENE
Human Proteome Map ABCC5-AS1 Human Proteome Map
NCBI Gene ABCC5-AS1 ENTREZGENE
RNAcentral URS0000221CD6 RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-08-21 ABCC5-AS1  ABCC5 antisense RNA 1  ABCC5-AS1  ABCC5 antisense RNA 1 (non-protein coding)  Symbol and/or name change 5135510 APPROVED