MACC1-AS1 (MACC1 antisense RNA 1) - Rat Genome Database

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Gene: MACC1-AS1 (MACC1 antisense RNA 1) Homo sapiens
Analyze
Symbol: MACC1-AS1
Name: MACC1 antisense RNA 1
RGD ID: 6480856
HGNC Page HGNC:41257
Description:
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: PREDICTED
Previously known as: AC007001.4
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38720,141,916 - 20,153,531 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl720,141,916 - 20,153,531 (+)EnsemblGRCh38hg38GRCh38
GRCh37720,181,539 - 20,193,154 (+)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map7p21.1NCBI
HuRef720,070,987 - 20,082,602 (+)NCBIHuRef
CHM1_1720,182,248 - 20,193,864 (+)NCBICHM1_1
T2T-CHM13v2.0720,276,204 - 20,287,819 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2720,232,882 - 20,244,497 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:29510730   PMID:30742067   PMID:31822653   PMID:32267834   PMID:32339066  


Genomics

Variants

.
Variants in MACC1-AS1
1 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_182762.3(MACC1):c.2346+2682G>A single nucleotide variant Lung cancer [RCV000105940] Chr7:20151511 [GRCh38]
Chr7:20191134 [GRCh37]
Chr7:7p21.1		 uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p21.1(chr7:19178547-20733512)x3 copy number gain See cases [RCV000136582] Chr7:19178547..20733512 [GRCh38]
Chr7:19218170..20773135 [GRCh37]
Chr7:19184695..20739660 [NCBI36]
Chr7:7p21.1		 uncertain significance
GRCh38/hg38 7p21.1-15.3(chr7:19145712-22193713)x1 copy number loss See cases [RCV000136842] Chr7:19145712..22193713 [GRCh38]
Chr7:19185335..22233331 [GRCh37]
Chr7:19151860..22199856 [NCBI36]
Chr7:7p21.1-15.3		 pathogenic
GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3 copy number gain See cases [RCV000136649] Chr7:5682209..27230311 [GRCh38]
Chr7:5721840..27269930 [GRCh37]
Chr7:5688366..27236455 [NCBI36]
Chr7:7p22.1-15.2		 pathogenic
GRCh38/hg38 7p21.2-21.1(chr7:16121516-20607899)x1 copy number loss See cases [RCV000137236] Chr7:16121516..20607899 [GRCh38]
Chr7:16161141..20647522 [GRCh37]
Chr7:16127666..20614047 [NCBI36]
Chr7:7p21.2-21.1		 pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1 copy number loss See cases [RCV000137924] Chr7:15533812..24851432 [GRCh38]
Chr7:15573437..24891051 [GRCh37]
Chr7:15539962..24857576 [NCBI36]
Chr7:7p21.2-15.3		 pathogenic
GRCh38/hg38 7p21.1(chr7:18660228-20666885)x3 copy number gain See cases [RCV000138724] Chr7:18660228..20666885 [GRCh38]
Chr7:18699851..20706508 [GRCh37]
Chr7:18666376..20673033 [NCBI36]
Chr7:7p21.1		 uncertain significance
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 copy number gain See cases [RCV000143060] Chr7:1698124..27207295 [GRCh38]
Chr7:1737760..27246914 [GRCh37]
Chr7:1704286..27213439 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1 copy number loss See cases [RCV000142708] Chr7:10610069..25760560 [GRCh38]
Chr7:10649696..25800180 [GRCh37]
Chr7:10616221..25766705 [NCBI36]
Chr7:7p21.3-15.2		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p21.3-15.3(chr7:8274775-21988311)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052280]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052280]|See cases [RCV000052280] Chr7:8274775..21988311 [GRCh38]
Chr7:8314405..22027929 [GRCh37]
Chr7:8280930..21994454 [NCBI36]
Chr7:7p21.3-15.3		 pathogenic
GRCh38/hg38 7p21.1-15.3(chr7:18505390-21417733)x1 copy number loss See cases [RCV000052304] Chr7:18505390..21417733 [GRCh38]
Chr7:18545013..21457351 [GRCh37]
Chr7:18511538..21423876 [NCBI36]
Chr7:7p21.1-15.3		 pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2		 pathogenic
GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3 copy number gain See cases [RCV000053531] Chr7:16234212..26167278 [GRCh38]
Chr7:16273837..26206898 [GRCh37]
Chr7:16240362..26173423 [NCBI36]
Chr7:7p21.2-15.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:51
Count of miRNA genes:51
Interacting mature miRNAs:51
Transcripts:ENST00000439285
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 entire extraembryonic component
High
Medium 10 4
Low 107 3 11 3 171 1 743 15 446 56 545 22 2 70 506
Below cutoff 1130 233 422 144 255 28 1544 521 584 203 516 429 120 474 866 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000439285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl720,141,916 - 20,153,531 (+)Ensembl
RefSeq Acc Id: NR_046756
RefSeq Status: PREDICTED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38720,141,916 - 20,153,531 (+)NCBI
GRCh37720,181,539 - 20,193,154 (+)NCBI
HuRef720,070,987 - 20,082,602 (+)NCBI
CHM1_1720,182,248 - 20,193,864 (+)NCBI
T2T-CHM13v2.0720,276,204 - 20,287,819 (+)NCBI
CRA_TCAGchr7v2720,232,882 - 20,244,497 (+)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC MACC1-AS1 COSMIC
Ensembl Genes ENSG00000228598 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000439285 ENTREZGENE
GTEx ENSG00000228598 GTEx
HGNC ID HGNC:41257 ENTREZGENE
Human Proteome Map MACC1-AS1 Human Proteome Map
NCBI Gene MACC1-AS1 ENTREZGENE
RNAcentral URS00005F5556 RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-08-21 MACC1-AS1  MACC1 antisense RNA 1  MACC1-AS1  MACC1 antisense RNA 1 (non-protein coding)  Symbol and/or name change 5135510 APPROVED