MT-TY (mitochondrially encoded tRNA-Tyr (UAU/C)) - Rat Genome Database

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Gene: MT-TY (mitochondrially encoded tRNA-Tyr (UAU/C)) Homo sapiens
Analyze
Symbol: MT-TY
Name: mitochondrially encoded tRNA-Tyr (UAU/C)
RGD ID: 1348937
HGNC Page HGNC:7502
Description: ASSOCIATED WITH Ataxia; Camptodactyly of finger; cerebellar ataxia; INTERACTS WITH aristolochic acid A; dieldrin; valproic acid
Type: trna (Ensembl: Mt_tRNA)
Previously known as: mitochondrially encoded tRNA tyrosine; MTTY
RGD Orthologs
Mouse
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38MT5,826 - 5,891 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblMT5,826 - 5,891 (-)EnsemblGRCh38hg38GRCh38
GRCh37MT5,826 - 5,891 (-)NCBIGRCh37GRCh37hg19GRCh37


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:19758471  


Genomics

Comparative Map Data
MT-TY
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38MT5,826 - 5,891 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblMT5,826 - 5,891 (-)EnsemblGRCh38hg38GRCh38
GRCh37MT5,826 - 5,891 (-)NCBIGRCh37GRCh37hg19GRCh37
mt-Ty
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39MT5,260 - 5,326 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblMT5,260 - 5,326 (-)EnsemblGRCm39 Ensembl
GRCm38MT5,260 - 5,326 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblMT5,260 - 5,326 (-)EnsemblGRCm38mm10GRCm38
MGSCv37MT5,260 - 5,326 (-)NCBIGRCm37MGSCv37mm9NCBIm37


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
m.5874T>C single nucleotide variant Exercise intolerance and complex III deficiency, somatic [RCV000010159]|not provided [RCV000509556] ChrMT:5874 [GRCh38]
ChrMT:5874 [GRCh37]		 pathogenic|other|not provided
m.5888delT deletion Kearns-Sayre syndrome [RCV000010160] ChrMT:5885 [GRCh38]
ChrMT:5885 [GRCh37]		 pathogenic|other
m.5877C>T single nucleotide variant Kearns-Sayre syndrome [RCV000010161] ChrMT:5877 [GRCh38]
ChrMT:5877 [GRCh37]		 pathogenic|other
m.5843A>G AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Focal segmental glomerulosclerosis and dilated cardiomyopathy [RCV000010162]|Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850873] ChrMT:5843 [GRCh38]
ChrMT:5843 [GRCh37]		 pathogenic|benign
NC_012920.1(MT-TY):m.5782_13922del deletion Primary dilated cardiomyopathy [RCV000191151] ChrMT:5782..13922 [GRCh38]
ChrMT:5782..13922 [GRCh37]		 likely pathogenic
NC_012920.1(MT-TY):m.5794_14876del deletion Primary dilated cardiomyopathy [RCV000191152] ChrMT:5794..14876 [GRCh38]
ChrMT:5794..14876 [GRCh37]		 likely pathogenic
NC_012920.1(MT-CYB):m.5846C>T AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850874] ChrMT:5846 [GRCh38]
ChrMT:5846 [GRCh37]		 benign
NC_012920.1(MT-CYB):m.5864G>A AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850878] ChrMT:5864 [GRCh38]
ChrMT:5864 [GRCh37]		 uncertain significance
NC_012920.1(MT-CYB):m.5885T>C single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850883]|See cases [RCV001198827] ChrMT:5885 [GRCh38]
ChrMT:5885 [GRCh37]		 uncertain significance
NC_012920.1(MT-CYB):m.5889A>G AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850884] ChrMT:5889 [GRCh38]
ChrMT:5889 [GRCh37]		 uncertain significance
NC_012920.1(MT-CYB):m.5836A>G AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850867] ChrMT:5836 [GRCh38]
ChrMT:5836 [GRCh37]		 benign
NC_012920.1(MT-CYB):m.5840C>A AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850870] ChrMT:5840 [GRCh38]
ChrMT:5840 [GRCh37]		 uncertain significance
NC_012920.1(MT-CYB):m.5840C>T AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850871] ChrMT:5840 [GRCh38]
ChrMT:5840 [GRCh37]		 likely benign
NC_012920.1(MT-CYB):m.5841T>C AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850872] ChrMT:5841 [GRCh38]
ChrMT:5841 [GRCh37]		 uncertain significance
NC_012920.1(MT-CYB):m.5855A>G AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850876] ChrMT:5855 [GRCh38]
ChrMT:5855 [GRCh37]		 likely benign
NC_012920.1(MT-CYB):m.5867C>T AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850880] ChrMT:5867 [GRCh38]
ChrMT:5867 [GRCh37]		 likely benign
NC_012920.1(MT-CYB):m.5837G>A AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850868] ChrMT:5837 [GRCh38]
ChrMT:5837 [GRCh37]		 uncertain significance
NC_012920.1(MT-CYB):m.5839C>T AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850869] ChrMT:5839 [GRCh38]
ChrMT:5839 [GRCh37]		 benign
NC_012920.1(MT-CYB):m.5865T>C AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850879] ChrMT:5865 [GRCh38]
ChrMT:5865 [GRCh37]		 uncertain significance
NC_012920.1(MT-CYB):m.5875C>T AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850881] ChrMT:5875 [GRCh38]
ChrMT:5875 [GRCh37]		 likely benign
NC_012920.1(MT-CYB):m.5852T>C AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850875] ChrMT:5852 [GRCh38]
ChrMT:5852 [GRCh37]		 uncertain significance
NC_012920.1(MT-CYB):m.5858T>C AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850877] ChrMT:5858 [GRCh38]
ChrMT:5858 [GRCh37]		 uncertain significance
NC_012920.1(MT-CYB):m.5876A>G AND Juvenile myopathy, encephalopathy, lactic acidosis single nucleotide variant Juvenile myopathy, encephalopathy, lactic acidosis AND stroke [RCV000850882] ChrMT:5876 [GRCh38]
ChrMT:5876 [GRCh37]		 likely benign
NC_012920.1:m.8993T>G single nucleotide variant Cerebellar ataxia [RCV000191106]|Hypertelorism [RCV000414771]|Leber optic atrophy [RCV001542706]|Leigh syndrome [RCV000010273]|Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 [RCV000754646]|Mitochondrial disease [RCV000495419]|NARP syndrome [RCV000010274]|Rod-cone dystrophy [RCV001376274]|not provided [RCV000224643]|not specified [RCV002285006] ChrMT:8993 [GRCh38]
ChrMT:8993 [GRCh37]		 pathogenic|likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:225
Count of miRNA genes:212
Interacting mature miRNAs:224
Transcripts:ENST00000387409
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
RH98513  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371567,937 - 568,064UniSTSGRCh37
GRCh37MT7,386 - 7,513UniSTSGRCh37
Build 361557,800 - 557,927RGDNCBI36
Cytogenetic Map5q35.2UniSTS
HuRef14,191 - 4,318UniSTS
D17S813E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371567,717 - 567,912UniSTSGRCh37
GRCh37MT7,166 - 7,361UniSTSGRCh37
Build 361557,580 - 557,775RGDNCBI36
Cytogenetic Map5q35.2UniSTS
HuRef13,971 - 4,166UniSTS
D1S2077E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371568,241 - 568,324UniSTSGRCh37
GRCh37MT7,690 - 7,773UniSTSGRCh37
Build 361558,104 - 558,187RGDNCBI36
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map11q13UniSTS
HuRef14,495 - 4,578UniSTS
PMC20756P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37MT7,483 - 7,570UniSTSGRCh37
GRCh371568,034 - 568,121UniSTSGRCh37
Build 361557,897 - 557,984RGDNCBI36
HuRef14,288 - 4,375UniSTS
PMC20756P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37MT7,125 - 7,672UniSTSGRCh37
GRCh371567,676 - 568,223UniSTSGRCh37
Build 361557,539 - 558,086RGDNCBI36
HuRef13,930 - 4,477UniSTS
PMC55343P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37MT6,318 - 6,918UniSTSGRCh37
GRCh371566,868 - 567,469UniSTSGRCh37
Build 361556,731 - 557,332RGDNCBI36
HuRef13,123 - 3,723UniSTS


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 6 9 4 1 99 1 4 3 7 13 4 2 1 2 1
Medium 1346 987 464 153 683 120 2095 1164 1210 205 293 636 44 379 1306 3
Low 938 1617 819 293 795 171 2185 981 2302 86 829 728 123 696 1440
Below cutoff 7 50 34 10 41 9 7 9 20 7 12 5 1 13 4

Sequence

Nucleotide Sequences

Reference Sequences
RefSeq Acc Id: ENST00000387409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblMT5,826 - 5,891 (-)Ensembl

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7502 AgrOrtholog
COSMIC MT-TY COSMIC
Ensembl Genes ENSG00000210144 Ensembl
GTEx ENSG00000210144 GTEx
HGNC ID HGNC:7502 ENTREZGENE
Human Proteome Map MT-TY Human Proteome Map
NCBI Gene MT-TY ENTREZGENE
OMIM 590100 OMIM
PharmGKB PA31305 PharmGKB


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-02-26 MT-TY  mitochondrially encoded tRNA-Tyr (UAU/C)  MT-TY  mitochondrially encoded tRNA tyrosine  Symbol and/or name change 19259463 PROVISIONAL
2015-05-19 MT-TY  mitochondrially encoded tRNA tyrosine  TRNY  mitochondrially encoded tRNA tyrosine  Symbol and/or name change 5135510 APPROVED
2015-05-19 MT-TY  mitochondrially encoded tRNA tyrosine  TRNY    Symbol and/or name change 5135510 APPROVED
2014-01-07 TRNY  mitochondrially encoded tRNA tyrosine  MT-TY    Symbol and/or name change 5135510 APPROVED
2014-01-07 TRNY  mitochondrially encoded tRNA tyrosine  MT-TY  mitochondrially encoded tRNA tyrosine  Symbol and/or name change 5135510 APPROVED