AC024224.2 (novel transcript) - 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: AC024224.2 (novel transcript) Homo sapiens
Analyze
Symbol: AC024224.2
Name: novel transcript
RGD ID: 16561129
Description: ASSOCIATED WITH genetic disease
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: LOC102724020; uncharacterized LOC102724020
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38.p14 Ensembl - Human Genome Assembly GRCh38 Ensembl
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381210,014,886 - 10,030,623 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1210,015,240 - 10,030,606 (-)EnsemblGRCh38hg38GRCh38
GRCh371210,167,485 - 10,183,222 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map12p13.2NCBI
CHM1_11210,137,265 - 10,152,519 (-)NCBICHM1_1
T2T-CHM13v2.0129,901,290 - 9,917,032 (-)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:23834954   PMID:24058526  


Genomics

Variants

.
Variants in AC024224.2
8 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 copy number gain See cases [RCV000137694] Chr12:2871741..14987348 [GRCh38]
Chr12:2980907..15140282 [GRCh37]
Chr12:2851168..15031549 [NCBI36]
Chr12:12p13.33-12.3		 pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2		 pathogenic
NM_001129998.3(CLEC12B):c.449A>G (p.Tyr150Cys) single nucleotide variant Inborn genetic diseases [RCV003291096] Chr12:10015291 [GRCh38]
Chr12:10167890 [GRCh37]
Chr12:12p13.2		 uncertain significance
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
NM_001129998.3(CLEC12B):c.712G>C (p.Gly238Arg) single nucleotide variant Inborn genetic diseases [RCV002860247] Chr12:10018362 [GRCh38]
Chr12:10170961 [GRCh37]
Chr12:12p13.2		 uncertain significance
NM_001129998.3(CLEC12B):c.521A>C (p.Asp174Ala) single nucleotide variant Inborn genetic diseases [RCV002731825] Chr12:10015363 [GRCh38]
Chr12:10167962 [GRCh37]
Chr12:12p13.2		 uncertain significance
NM_001129998.3(CLEC12B):c.695A>G (p.Glu232Gly) single nucleotide variant Inborn genetic diseases [RCV002739469] Chr12:10018345 [GRCh38]
Chr12:10170944 [GRCh37]
Chr12:12p13.2		 uncertain significance
NM_001129998.3(CLEC12B):c.419G>T (p.Cys140Phe) single nucleotide variant Inborn genetic diseases [RCV002697797] Chr12:10015261 [GRCh38]
Chr12:10167860 [GRCh37]
Chr12:12p13.2		 uncertain significance
NM_001129998.3(CLEC12B):c.794A>T (p.Lys265Met) single nucleotide variant Inborn genetic diseases [RCV002809791] Chr12:10018444 [GRCh38]
Chr12:10171043 [GRCh37]
Chr12:12p13.2		 uncertain significance
NM_001129998.3(CLEC12B):c.511G>A (p.Asp171Asn) single nucleotide variant Inborn genetic diseases [RCV002896792] Chr12:10015353 [GRCh38]
Chr12:10167952 [GRCh37]
Chr12:12p13.2		 likely benign
NM_001129998.3(CLEC12B):c.649T>C (p.Trp217Arg) single nucleotide variant Inborn genetic diseases [RCV002724937] Chr12:10015696 [GRCh38]
Chr12:10168295 [GRCh37]
Chr12:12p13.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:127
Count of miRNA genes:118
Interacting mature miRNAs:121
Transcripts:ENST00000544225
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 3 31
Low 3 12 4 18 14 3 4 1 342 39 6 6
Below cutoff 270 438 203 46 330 17 666 284 261 45 126 437 29 332 376 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000544225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1210,015,240 - 10,030,606 (-)Ensembl
RefSeq Acc Id: NR_120484
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381210,015,352 - 10,030,606 (-)NCBI
T2T-CHM13v2.0129,901,756 - 9,917,015 (-)NCBI
Sequence:
RefSeq Acc Id: NR_169587
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381210,014,886 - 10,030,623 (-)NCBI
T2T-CHM13v2.0129,901,290 - 9,917,032 (-)NCBI
Sequence:

Additional Information

Database Acc Id Source(s)
COSMIC AC024224.2 COSMIC
Ensembl Genes ENSG00000256803 Ensembl, ENTREZGENE
Ensembl Transcript ENST00000544225 ENTREZGENE
GTEx ENSG00000256803 GTEx
Human Proteome Map AC024224.2 Human Proteome Map
NCBI Gene LOC102724020 ENTREZGENE
RNAcentral URS000075E422 RNACentral
  URS0001BBE423 RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-06-25 AC024224.2  novel transcript  LOC102724020  uncharacterized LOC102724020  Symbol and/or name change 19259462 PROVISIONAL
2020-06-18 LOC102724020  uncharacterized LOC102724020  AC024224.2  novel transcript  Symbol and/or name change 5135510 APPROVED