MAMDC2-AS1 (MAMDC2 antisense RNA 1) - Rat Genome Database

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Gene: MAMDC2-AS1 (MAMDC2 antisense RNA 1) Homo sapiens
Analyze
Symbol: MAMDC2-AS1
Name: MAMDC2 antisense RNA 1
RGD ID: 7246294
HGNC Page HGNC:48719
Description: INTERACTS WITH acrylamide; aflatoxin B1; antirheumatic drug
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: LOC105379611; RP11-195E11.2; uncharacterized LOC105379611
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38970,153,134 - 70,175,888 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl970,033,921 - 70,175,888 (-)EnsemblGRCh38hg38GRCh38
GRCh37972,768,050 - 72,790,804 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map9q21.12NCBI
HuRef942,607,940 - 42,630,711 (-)NCBIHuRef
CHM1_1972,912,528 - 72,935,292 (-)NCBICHM1_1
T2T-CHM13v2.0982,319,905 - 82,342,673 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
References
Additional References at PubMed
PMID:32226304  


Genomics

Variants

.
Variants in MAMDC2-AS1
5 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q21.11-21.13(chr9:68454847-76252863)x1 copy number loss See cases [RCV000133632] Chr9:68454847..76252863 [GRCh38]
Chr9:71130848..78867779 [GRCh37]
Chr9:70259583..78057599 [NCBI36]
Chr9:9q21.11-21.13		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2		 pathogenic
GRCh38/hg38 9q21.11-21.12(chr9:68420349-70939579)x1 copy number loss See cases [RCV000137529] Chr9:68420349..70939579 [GRCh38]
Chr9:71130848..73554495 [GRCh37]
Chr9:70225085..72744315 [NCBI36]
Chr9:9q21.11-21.12		 likely pathogenic
GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1 copy number loss See cases [RCV000137963] Chr9:68499530..83670227 [GRCh38]
Chr9:71130848..86285142 [GRCh37]
Chr9:70304266..85474962 [NCBI36]
Chr9:9q21.11-21.32		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9q21.11-21.13(chr9:68624483-72028837)x3 copy number gain See cases [RCV000143753] Chr9:68624483..72028837 [GRCh38]
Chr9:71239399..74643753 [GRCh37]
Chr9:70429219..73833573 [NCBI36]
Chr9:9q21.11-21.13		 likely pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
NM_153267.5(MAMDC2):c.1581C>T (p.Ser527=) single nucleotide variant not provided [RCV000960907] Chr9:70170561 [GRCh38]
Chr9:72785477 [GRCh37]
Chr9:9q21.12		 benign
NM_153267.5(MAMDC2):c.1455C>A (p.Ala485=) single nucleotide variant not provided [RCV000959067] Chr9:70168752 [GRCh38]
Chr9:72783668 [GRCh37]
Chr9:9q21.12		 benign
NM_153267.5(MAMDC2):c.1574G>A (p.Arg525Gln) single nucleotide variant not specified [RCV004138495] Chr9:70170554 [GRCh38]
Chr9:72785470 [GRCh37]
Chr9:9q21.12		 uncertain significance
NM_153267.5(MAMDC2):c.1635T>A (p.Asp545Glu) single nucleotide variant not specified [RCV004173290] Chr9:70170615 [GRCh38]
Chr9:72785531 [GRCh37]
Chr9:9q21.12		 uncertain significance
NM_153267.5(MAMDC2):c.1511C>T (p.Pro504Leu) single nucleotide variant not specified [RCV004075343] Chr9:70170491 [GRCh38]
Chr9:72785407 [GRCh37]
Chr9:9q21.12		 uncertain significance
NM_153267.5(MAMDC2):c.1474C>G (p.Gln492Glu) single nucleotide variant not specified [RCV004413741] Chr9:70168771 [GRCh38]
Chr9:72783687 [GRCh37]
Chr9:9q21.12		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1099
Count of miRNA genes:550
Interacting mature miRNAs:605
Transcripts:ENST00000377178, ENST00000414515, ENST00000420573, ENST00000448377, ENST00000451488, ENST00000535188, ENST00000585478, ENST00000590177, ENST00000591368, ENST00000610059
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.

Markers in Region
D9S1999  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37972,787,530 - 72,787,759UniSTSGRCh37
Build 36971,977,350 - 71,977,579RGDNCBI36
Celera943,377,907 - 43,378,136RGD
Cytogenetic Map9q21.12UniSTS
HuRef942,627,433 - 42,627,662UniSTS
Whitehead-RH Map9275.1UniSTS
NCBI RH Map9656.8UniSTS


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 236 114 932 23 7 10 354 156 755 122 754 833 13 6 338 1
Below cutoff 2110 2407 737 550 997 404 3898 2010 2938 279 644 715 157 1197 2434 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_040076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC212493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL392044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA989283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA989284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA989290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA989291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA989292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA989293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA989294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA989295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA989296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA989297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA989298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA989299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA989300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA989301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA989303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA989304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000377178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl970,153,134 - 70,175,832 (-)Ensembl
RefSeq Acc Id: ENST00000414515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl970,085,816 - 70,113,860 (-)Ensembl
RefSeq Acc Id: ENST00000420573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl970,171,999 - 70,172,767 (-)Ensembl
RefSeq Acc Id: ENST00000448377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl970,169,642 - 70,175,888 (-)Ensembl
RefSeq Acc Id: ENST00000451488
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl970,153,134 - 70,157,540 (-)Ensembl
RefSeq Acc Id: ENST00000585478
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl970,087,419 - 70,089,236 (-)Ensembl
RefSeq Acc Id: ENST00000590177
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl970,087,419 - 70,092,706 (-)Ensembl
RefSeq Acc Id: ENST00000591368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl970,087,419 - 70,175,883 (-)Ensembl
RefSeq Acc Id: ENST00000610059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl970,087,590 - 70,093,962 (-)Ensembl
RefSeq Acc Id: ENST00000625991
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl970,060,557 - 70,088,424 (-)Ensembl
RefSeq Acc Id: ENST00000626263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl970,083,406 - 70,088,424 (-)Ensembl
RefSeq Acc Id: ENST00000626529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl970,082,603 - 70,088,424 (-)Ensembl
RefSeq Acc Id: ENST00000626773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl970,062,880 - 70,088,424 (-)Ensembl
RefSeq Acc Id: ENST00000627123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl970,062,535 - 70,088,424 (-)Ensembl
RefSeq Acc Id: ENST00000627141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl970,071,709 - 70,088,424 (-)Ensembl
RefSeq Acc Id: ENST00000627262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl970,062,580 - 70,088,424 (-)Ensembl
RefSeq Acc Id: ENST00000628046
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl970,071,581 - 70,088,424 (-)Ensembl
RefSeq Acc Id: ENST00000628414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl970,071,608 - 70,088,424 (-)Ensembl
RefSeq Acc Id: ENST00000628563
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl970,033,921 - 70,088,424 (-)Ensembl
RefSeq Acc Id: ENST00000628903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl970,071,590 - 70,088,424 (-)Ensembl
RefSeq Acc Id: ENST00000629922
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl970,034,088 - 70,088,424 (-)Ensembl
RefSeq Acc Id: ENST00000630191
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl970,033,921 - 70,088,424 (-)Ensembl
RefSeq Acc Id: ENST00000630232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl970,081,493 - 70,088,424 (-)Ensembl
RefSeq Acc Id: NR_040076
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38970,153,134 - 70,175,888 (-)NCBI
GRCh37972,768,050 - 72,790,804 (-)NCBI
HuRef942,607,940 - 42,630,711 (-)NCBI
CHM1_1972,912,528 - 72,935,292 (-)NCBI
T2T-CHM13v2.0982,319,905 - 82,342,673 (-)NCBI
Sequence:
Protein Sequences
GenBank Protein BAC85782 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences


Additional Information

Database Acc Id Source(s)
COSMIC MAMDC2-AS1 COSMIC
Ensembl Genes ENSG00000204706 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000377178 ENTREZGENE
GTEx ENSG00000204706 GTEx
HGNC ID HGNC:48719 ENTREZGENE
Human Proteome Map MAMDC2-AS1 Human Proteome Map
NCBI Gene MAMDC2-AS1 ENTREZGENE
RNAcentral URS000075DE3E RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-12-21 MAMDC2-AS1  MAMDC2 antisense RNA 1  LOC105379611  uncharacterized LOC105379611  Data Merged 737654 PROVISIONAL