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

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Gene: BAALC-AS1 (BAALC antisense RNA 1) Homo sapiens
Analyze
Symbol: BAALC-AS1
Name: BAALC antisense RNA 1
RGD ID: 8655302
Description: ASSOCIATED WITH amenorrhea; Primary amenorrhea
Type: ncrna
RefSeq Status: VALIDATED
Also known as: FZD6-DT; lncFZD6
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8103,153,394 - 103,298,772 (-)EnsemblGRCh38hg38GRCh38
GRCh388103,243,538 - 103,298,818 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378104,255,766 - 104,311,046 (-)NCBIGRCh37GRCh37hg19GRCh37
Celera8100,364,572 - 100,371,202 (-)NCBI
Cytogenetic Map8q22.3NCBI
HuRef899,369,752 - 99,511,913 (-)NCBIHuRef
HuRef899,378,980 - 99,385,626 (-)NCBIHuRef
CHM1_18104,296,766 - 104,352,002 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
amenorrhea  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References
Additional References at PubMed
PMID:14702039  


Genomics

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1602
Count of miRNA genes:835
Interacting mature miRNAs:987
Transcripts:ENST00000499522, ENST00000500902, ENST00000519801, ENST00000520025, ENST00000521102, ENST00000521383, ENST00000522856, ENST00000523614, ENST00000523673, ENST00000523915
Prediction methods:Microtar, 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 1 5 5 103 1 30 4
Low 1183 1448 1255 169 363 75 2898 746 3235 338 1066 1459 107 949 1610 4
Below cutoff 1247 1301 424 408 1277 344 1449 1437 387 79 352 144 64 255 1175

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000499522
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,165,929 - 103,285,907 (-)Ensembl
RefSeq Acc Id: ENST00000500902
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,165,509 - 103,172,140 (-)Ensembl
RefSeq Acc Id: ENST00000519801
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,245,778 - 103,285,907 (-)Ensembl
RefSeq Acc Id: ENST00000520025
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,268,268 - 103,285,905 (-)Ensembl
RefSeq Acc Id: ENST00000521102
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,153,394 - 103,172,160 (-)Ensembl
RefSeq Acc Id: ENST00000521383
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,246,473 - 103,298,763 (-)Ensembl
RefSeq Acc Id: ENST00000522856
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,285,733 - 103,298,772 (-)Ensembl
RefSeq Acc Id: ENST00000523614
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,190,964 - 103,298,382 (-)Ensembl
RefSeq Acc Id: ENST00000523673
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,265,246 - 103,285,902 (-)Ensembl
RefSeq Acc Id: ENST00000523915
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,191,229 - 103,202,870 (-)Ensembl
RefSeq Acc Id: ENST00000653502
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,264,799 - 103,298,764 (-)Ensembl
RefSeq Acc Id: ENST00000660425
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,161,989 - 103,172,160 (-)Ensembl
RefSeq Acc Id: ENST00000663003
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,154,977 - 103,172,160 (-)Ensembl
RefSeq Acc Id: ENST00000667164
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,243,553 - 103,298,721 (-)Ensembl
RefSeq Acc Id: ENST00000669482
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8103,266,544 - 103,298,746 (-)Ensembl
RefSeq Acc Id: NR_148213
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388103,243,538 - 103,298,818 (-)NCBI
Sequence:
RefSeq Acc Id: NR_148214
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388103,266,445 - 103,298,818 (-)NCBI
Sequence:
RefSeq Acc Id: NR_148215
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388103,266,445 - 103,298,818 (-)NCBI
Sequence:
RefSeq Acc Id: NR_148216
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388103,243,538 - 103,298,818 (-)NCBI
Sequence:
Promoters
RGD ID:15096257
Promoter ID:EPDNEWNC_H1086
Type:initiation region
Name:BAALC-AS1_3
Description:BAALC antisense RNA 1 [Source:HGNC Symbol;Acc:HGNC:50461]
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
GRCh388103,285,872 - 103,285,932EPDNEWNC
RGD ID:15096269
Promoter ID:EPDNEWNC_H1087
Type:initiation region
Name:BAALC-AS1_1
Description:BAALC antisense RNA 1 [Source:HGNC Symbol;Acc:HGNC:50461]
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
GRCh388103,298,822 - 103,298,882EPDNEWNC

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1 copy number loss See cases [RCV000134099] Chr8:101884819..107356143 [GRCh38]
Chr8:102897047..108368371 [GRCh37]
Chr8:102966223..108437547 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101199826-105802098)x1 copy number loss See cases [RCV000136812] Chr8:101199826..105802098 [GRCh38]
Chr8:102212054..106814326 [GRCh37]
Chr8:102281230..106883502 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1 copy number loss See cases [RCV000138134] Chr8:101171263..109127664 [GRCh38]
Chr8:102183491..110139893 [GRCh37]
Chr8:102252667..110209069 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1 copy number loss See cases [RCV000141697] Chr8:100179408..106524667 [GRCh38]
Chr8:101191636..107536895 [GRCh37]
Chr8:101260812..107606071 [NCBI36]
Chr8:8q22.2-23.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3(chr8:101962098-103357772)x3 copy number gain See cases [RCV000050760] Chr8:101962098..103357772 [GRCh38]
Chr8:102974326..104370000 [GRCh37]
Chr8:103043502..104439176 [NCBI36]
Chr8:8q22.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NC_000008.10:g.104306192_104334440del28249 deletion Primary amenorrhea [RCV000754438] Chr8:103293964..103322212 [GRCh38]
Chr8:104306192..104334440 [GRCh37]
Chr8:8q22.3
uncertain significance

Additional Information

Database Acc Id Source(s)
COSMIC BAALC-AS1 COSMIC
Ensembl Genes ENSG00000247081 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000667164 ENTREZGENE
  ENST00000669482 ENTREZGENE
GTEx ENSG00000247081 GTEx
Human Proteome Map BAALC-AS1 Human Proteome Map
NCBI Gene LOC105369147 ENTREZGENE
RNAcentral URS0000BC43B9 RNACentral
  URS0000BC4433 RNACentral
  URS0000BC4531 RNACentral
  URS0000BC463D RNACentral