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

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: MRAP-AS1 (MRAP antisense RNA 1) Homo sapiens
Analyze
Symbol: MRAP-AS1
Name: MRAP antisense RNA 1
RGD ID: 14700862
HGNC Page HGNC:40108
Description: ASSOCIATED WITH genetic disease; Glucocorticoid Deficiency 2; ZTTK Syndrome
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: AP000266.1
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382132,306,464 - 32,308,735 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2132,306,464 - 32,308,737 (-)EnsemblGRCh38hg38GRCh38
Cytogenetic Map21q22.11NCBI
CHM1_12133,240,591 - 33,243,281 (-)NCBICHM1_1
T2T-CHM13v2.02130,676,222 - 30,678,493 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References
Additional References at PubMed
PMID:12477932  


Genomics

Variants

.
Variants in MRAP-AS1
12 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3		 pathogenic
NM_001379228.1(MRAP):c.128G>T (p.Trp43Leu) single nucleotide variant Inborn genetic diseases [RCV003299130] Chr21:32306661 [GRCh38]
Chr21:33678972 [GRCh37]
Chr21:21q22.11		 uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
NM_001379228.1(MRAP):c.189C>T (p.Ser63=) single nucleotide variant not provided [RCV000948085] Chr21:32306722 [GRCh38]
Chr21:33679033 [GRCh37]
Chr21:21q22.11		 benign
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
NM_001379228.1(MRAP):c.206+5G>T single nucleotide variant MRAP-related condition [RCV003409666]|not provided [RCV000482985] Chr21:32306744 [GRCh38]
Chr21:33679055 [GRCh37]
Chr21:21q22.11		 likely pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1 copy number loss See cases [RCV000138095] Chr21:7749532..37653653 [GRCh38]
Chr21:15451032..39025955 [GRCh37]
Chr21:14372903..37947825 [NCBI36]
Chr21:21p11.2-q22.13		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3		 uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
NM_001379228.1(MRAP):c.132G>T (p.Val44=) single nucleotide variant Glucocorticoid deficiency 2 [RCV000301463] Chr21:32306665 [GRCh38]
Chr21:33678976 [GRCh37]
Chr21:21q22.11		 benign|likely benign
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting data from submitters
NM_001379228.1(MRAP):c.148G>A (p.Val50Met) single nucleotide variant Glucocorticoid deficiency 2 [RCV000354030]|not provided [RCV000889295] Chr21:32306681 [GRCh38]
Chr21:33678992 [GRCh37]
Chr21:21q22.11		 benign|likely benign
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q22.11(chr21:31339386-32311519)x1 copy number loss See cases [RCV000052805] Chr21:31339386..32311519 [GRCh38]
Chr21:32711701..33683830 [GRCh37]
Chr21:31633572..32605701 [NCBI36]
Chr21:21q22.11		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 copy number gain See cases [RCV000133676] Chr21:7749532..42971047 [GRCh38]
Chr21:15499847..44391157 [GRCh37]
Chr21:14421718..43264226 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
NM_001379228.1(MRAP):c.206+13G>C single nucleotide variant Glucocorticoid deficiency 2 [RCV000261515] Chr21:32306752 [GRCh38]
Chr21:33679063 [GRCh37]
Chr21:21q22.11		 uncertain significance
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347) copy number loss Monosomy 21 [RCV000225665] Chr21:21754822..32380347 [GRCh38]
Chr21:21q21.1-22.11		 pathogenic
NM_001379228.1(MRAP):c.130del (p.Trp43_Val44insTer) deletion Glucocorticoid deficiency 2 [RCV000001916]|not provided [RCV003430630] Chr21:32306661 [GRCh38]
Chr21:33678972 [GRCh37]
Chr21:21q22.11		 pathogenic|uncertain significance
NM_001379228.1(MRAP):c.107-5C>T single nucleotide variant Glucocorticoid deficiency 2 [RCV001139188] Chr21:32306635 [GRCh38]
Chr21:33678946 [GRCh37]
Chr21:21q22.11		 uncertain significance
NM_001379228.1(MRAP):c.126C>T (p.Phe42=) single nucleotide variant Glucocorticoid deficiency 2 [RCV001139189] Chr21:32306659 [GRCh38]
Chr21:33678970 [GRCh37]
Chr21:21q22.11		 uncertain significance
Single allele deletion ZTTK syndrome [RCV002247722] Chr21:32213458..34373118 [GRCh38]
Chr21:21q22.11		 pathogenic
NM_001379228.1(MRAP):c.194C>T (p.Ser65Phe) single nucleotide variant Inborn genetic diseases [RCV002794520] Chr21:32306727 [GRCh38]
Chr21:33679038 [GRCh37]
Chr21:21q22.11		 uncertain significance
NM_001379228.1(MRAP):c.190G>A (p.Ala64Thr) single nucleotide variant Inborn genetic diseases [RCV002738697] Chr21:32306723 [GRCh38]
Chr21:33679034 [GRCh37]
Chr21:21q22.11		 uncertain significance
NM_001379228.1(MRAP):c.180G>A (p.Met60Ile) single nucleotide variant Inborn genetic diseases [RCV003186339] Chr21:32306713 [GRCh38]
Chr21:33679024 [GRCh37]
Chr21:21q22.11		 uncertain significance
NM_001379228.1(MRAP):c.115G>A (p.Val39Met) single nucleotide variant Inborn genetic diseases [RCV003340424] Chr21:32306648 [GRCh38]
Chr21:33678959 [GRCh37]
Chr21:21q22.11		 uncertain significance

Expression


Sequence


Reference Sequences
RefSeq Acc Id: ENST00000450936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2132,306,464 - 32,308,737 (-)Ensembl
RefSeq Acc Id: NR_187556
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382132,306,464 - 32,308,735 (-)NCBI
T2T-CHM13v2.02130,676,222 - 30,678,493 (-)NCBI

Additional Information

Database Acc Id Source(s)
COSMIC MRAP-AS1 COSMIC
Ensembl Genes ENSG00000232623 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000450936 ENTREZGENE
GTEx ENSG00000232623 GTEx
HGNC ID HGNC:40108 ENTREZGENE
Human Proteome Map MRAP-AS1 Human Proteome Map
NCBI Gene MRAP-AS1 ENTREZGENE
RNAcentral URS00026A20A9 RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-05-31 MRAP-AS1  MRAP antisense RNA 1  AP000266.1  novel transcript  Data merged from RGD:16555391 737654 PROVISIONAL