RMDN2-AS1 (RMDN2 antisense RNA 1) - Rat Genome Database

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Gene: RMDN2-AS1 (RMDN2 antisense RNA 1) Homo sapiens
Analyze
Symbol: RMDN2-AS1
Name: RMDN2 antisense RNA 1
RGD ID: 7243073
HGNC Page HGNC:41150
Description: ASSOCIATED WITH genetic disease; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: AC016689.1
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38237,950,334 - 38,036,341 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl237,949,911 - 38,067,041 (-)EnsemblGRCh38hg38GRCh38
GRCh37238,177,477 - 38,263,484 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map2p22.2NCBI
HuRef237,917,368 - 38,003,372 (-)NCBIHuRef
CHM1_1238,106,843 - 38,192,832 (-)NCBICHM1_1
T2T-CHM13v2.0237,957,237 - 38,043,247 (-)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

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:16344560  


Genomics

Variants

.
Variants in RMDN2-AS1
36 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_144713.4(RMDN2):c.267C>T (p.Ser89=) single nucleotide variant Malignant melanoma [RCV000065587] Chr2:37951482 [GRCh38]
Chr2:38178625 [GRCh37]
Chr2:38032129 [NCBI36]
Chr2:2p22.2		 not provided
GRCh38/hg38 2p22.2(chr2:38013370-38232603)x1 copy number loss See cases [RCV000138173] Chr2:38013370..38232603 [GRCh38]
Chr2:38240513..38459745 [GRCh37]
Chr2:38094017..38313249 [NCBI36]
Chr2:2p22.2		 uncertain significance
GRCh38/hg38 2p22.2-21(chr2:37000557-41954686)x1 copy number loss See cases [RCV000139443] Chr2:37000557..41954686 [GRCh38]
Chr2:37227700..42181826 [GRCh37]
Chr2:37081204..42035330 [NCBI36]
Chr2:2p22.2-21		 pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21		 pathogenic
GRCh38/hg38 2p22.2-22.1(chr2:36809304-38309455)x3 copy number gain See cases [RCV000050907] Chr2:36809304..38309455 [GRCh38]
Chr2:37036447..38536597 [GRCh37]
Chr2:36889951..38390101 [NCBI36]
Chr2:2p22.2-22.1		 uncertain significance
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1		 pathogenic
GRCh38/hg38 2p22.3-21(chr2:32849247-45016061)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052942]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052942]|See cases [RCV000052942] Chr2:32849247..45016061 [GRCh38]
Chr2:33074314..45243200 [GRCh37]
Chr2:32927818..45096704 [NCBI36]
Chr2:2p22.3-21		 pathogenic
NM_001170791.3(RMDN2):c.453-21943C>G single nucleotide variant Inborn genetic diseases [RCV003256667] Chr2:37952097 [GRCh38]
Chr2:38179240 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_001170791.3(RMDN2):c.877G>A (p.Asp293Asn) single nucleotide variant Inborn genetic diseases [RCV003240968] Chr2:37991229 [GRCh38]
Chr2:38218372 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_001170791.3(RMDN2):c.453-22111G>A single nucleotide variant not provided [RCV000968541] Chr2:37951929 [GRCh38]
Chr2:38179072 [GRCh37]
Chr2:2p22.2		 benign
NM_001170791.3(RMDN2):c.452+22005A>G single nucleotide variant not provided [RCV000902657] Chr2:37951734 [GRCh38]
Chr2:38178877 [GRCh37]
Chr2:2p22.2		 benign
NM_001170791.3(RMDN2):c.697A>G (p.Asn233Asp) single nucleotide variant Inborn genetic diseases [RCV003297777] Chr2:37975281 [GRCh38]
Chr2:38202424 [GRCh37]
Chr2:2p22.2		 likely benign
NM_001170791.3(RMDN2):c.1165A>G (p.Thr389Ala) single nucleotide variant Inborn genetic diseases [RCV003264527] Chr2:38004202 [GRCh38]
Chr2:38231345 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_001170791.3(RMDN2):c.556G>C (p.Val186Leu) single nucleotide variant Inborn genetic diseases [RCV002729206] Chr2:37974143 [GRCh38]
Chr2:38201286 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_001170791.3(RMDN2):c.1038C>G (p.Phe346Leu) single nucleotide variant Inborn genetic diseases [RCV002729124] Chr2:37997508 [GRCh38]
Chr2:38224651 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_001170791.3(RMDN2):c.452+21872C>G single nucleotide variant Inborn genetic diseases [RCV002687727] Chr2:37951601 [GRCh38]
Chr2:38178744 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_001170791.3(RMDN2):c.452+21574C>T single nucleotide variant Inborn genetic diseases [RCV002973509] Chr2:37951303 [GRCh38]
Chr2:38178446 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_001170791.3(RMDN2):c.452+22097A>T single nucleotide variant Inborn genetic diseases [RCV002799532] Chr2:37951826 [GRCh38]
Chr2:38178969 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_001170791.3(RMDN2):c.452+22065C>G single nucleotide variant Inborn genetic diseases [RCV002783912] Chr2:37951794 [GRCh38]
Chr2:38178937 [GRCh37]
Chr2:2p22.2		 likely benign
NM_001170791.3(RMDN2):c.938G>T (p.Cys313Phe) single nucleotide variant Inborn genetic diseases [RCV002854421] Chr2:37991290 [GRCh38]
Chr2:38218433 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_001170791.3(RMDN2):c.453-21923C>T single nucleotide variant Inborn genetic diseases [RCV002874159] Chr2:37952117 [GRCh38]
Chr2:38179260 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_001170791.3(RMDN2):c.846C>G (p.Ile282Met) single nucleotide variant Inborn genetic diseases [RCV002742295] Chr2:37989595 [GRCh38]
Chr2:38216738 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_001170791.3(RMDN2):c.615C>A (p.Asp205Glu) single nucleotide variant Inborn genetic diseases [RCV002804233] Chr2:37974202 [GRCh38]
Chr2:38201345 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_001170791.3(RMDN2):c.452+21935G>A single nucleotide variant Inborn genetic diseases [RCV002827813] Chr2:37951664 [GRCh38]
Chr2:38178807 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_001170791.3(RMDN2):c.517C>T (p.Arg173Cys) single nucleotide variant Inborn genetic diseases [RCV002940817] Chr2:37974104 [GRCh38]
Chr2:38201247 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_001170791.3(RMDN2):c.452+21539C>T single nucleotide variant Inborn genetic diseases [RCV002652239] Chr2:37951268 [GRCh38]
Chr2:38178411 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_001170791.3(RMDN2):c.452+21884G>A single nucleotide variant Inborn genetic diseases [RCV002879145] Chr2:37951613 [GRCh38]
Chr2:38178756 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_001170791.3(RMDN2):c.453-22056A>G single nucleotide variant Inborn genetic diseases [RCV002677903] Chr2:37951984 [GRCh38]
Chr2:38179127 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_001170791.3(RMDN2):c.452+21520C>G single nucleotide variant Inborn genetic diseases [RCV003299518] Chr2:37951249 [GRCh38]
Chr2:38178392 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_001170791.3(RMDN2):c.452+21656C>A single nucleotide variant Inborn genetic diseases [RCV003211391] Chr2:37951385 [GRCh38]
Chr2:38178528 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_001170791.3(RMDN2):c.453-22019C>G single nucleotide variant Inborn genetic diseases [RCV003198843] Chr2:37952021 [GRCh38]
Chr2:38179164 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_001170791.3(RMDN2):c.610C>T (p.Arg204Cys) single nucleotide variant Inborn genetic diseases [RCV003282563] Chr2:37974197 [GRCh38]
Chr2:38201340 [GRCh37]
Chr2:2p22.2		 likely benign
NM_001170791.3(RMDN2):c.453-22139A>G single nucleotide variant Inborn genetic diseases [RCV003281860] Chr2:37951901 [GRCh38]
Chr2:38179044 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_001170791.3(RMDN2):c.453-21891G>C single nucleotide variant Inborn genetic diseases [RCV003209013] Chr2:37952149 [GRCh38]
Chr2:38179292 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_001170791.3(RMDN2):c.1030C>T (p.His344Tyr) single nucleotide variant Inborn genetic diseases [RCV003189814] Chr2:37997500 [GRCh38]
Chr2:38224643 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_001170791.3(RMDN2):c.1025C>G (p.Ala342Gly) single nucleotide variant Inborn genetic diseases [RCV003265876] Chr2:37997495 [GRCh38]
Chr2:38224638 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_001170791.3(RMDN2):c.452+21812A>G single nucleotide variant Inborn genetic diseases [RCV003342429] Chr2:37951541 [GRCh38]
Chr2:38178684 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_001170791.3(RMDN2):c.761G>C (p.Arg254Thr) single nucleotide variant Inborn genetic diseases [RCV003362551] Chr2:37981313 [GRCh38]
Chr2:38208456 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_001170791.3(RMDN2):c.452+21946T>C single nucleotide variant Inborn genetic diseases [RCV003356121] Chr2:37951675 [GRCh38]
Chr2:38178818 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_001170791.3(RMDN2):c.452+21587C>T single nucleotide variant Inborn genetic diseases [RCV003362319] Chr2:37951316 [GRCh38]
Chr2:38178459 [GRCh37]
Chr2:2p22.2		 uncertain significance
NM_001170791.3(RMDN2):c.453-22016C>G single nucleotide variant Inborn genetic diseases [RCV003376491] Chr2:37952024 [GRCh38]
Chr2:38179167 [GRCh37]
Chr2:2p22.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:340
Count of miRNA genes:297
Interacting mature miRNAs:307
Transcripts:ENST00000414365, ENST00000598798, ENST00000601029
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 1
Low 33 5 34 5 123 5 149 15 159 13 413 60 19 145
Below cutoff 2067 2304 1490 459 1235 311 3374 1706 3142 196 874 1359 153 1111 2178 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000414365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl237,950,001 - 38,036,341 (-)Ensembl
RefSeq Acc Id: ENST00000598798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl238,030,225 - 38,036,290 (-)Ensembl
RefSeq Acc Id: ENST00000601029
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl238,035,888 - 38,067,041 (-)Ensembl
RefSeq Acc Id: ENST00000626669
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl237,950,227 - 37,976,365 (-)Ensembl
RefSeq Acc Id: ENST00000627113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl238,026,979 - 38,036,299 (-)Ensembl
RefSeq Acc Id: ENST00000627330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl237,950,239 - 38,036,267 (-)Ensembl
RefSeq Acc Id: ENST00000627614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl237,949,977 - 38,036,189 (-)Ensembl
RefSeq Acc Id: ENST00000629310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl238,028,087 - 38,036,267 (-)Ensembl
RefSeq Acc Id: ENST00000629814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl237,950,030 - 38,036,260 (-)Ensembl
RefSeq Acc Id: ENST00000630021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl237,949,911 - 38,039,327 (-)Ensembl
RefSeq Acc Id: ENST00000630340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl238,030,425 - 38,036,267 (-)Ensembl
RefSeq Acc Id: ENST00000630458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl238,032,869 - 38,036,297 (-)Ensembl
RefSeq Acc Id: ENST00000631120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl238,029,824 - 38,036,267 (-)Ensembl
RefSeq Acc Id: ENST00000631208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl238,029,346 - 38,036,267 (-)Ensembl
RefSeq Acc Id: NR_102712
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38237,950,334 - 38,036,341 (-)NCBI
GRCh37238,177,477 - 38,263,484 (-)NCBI
HuRef237,917,368 - 38,003,372 (-)NCBI
CHM1_1238,106,843 - 38,192,832 (-)NCBI
T2T-CHM13v2.0237,957,237 - 38,043,247 (-)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC RMDN2-AS1 COSMIC
Ensembl Genes ENSG00000235848 Ensembl
GTEx ENSG00000235848 GTEx
HGNC ID HGNC:41150 ENTREZGENE
Human Proteome Map RMDN2-AS1 Human Proteome Map
NCBI Gene RMDN2-AS1 ENTREZGENE
RNAcentral URS000075E7DC RNACentral