MRPL51 (mitochondrial ribosomal protein L51) - Rat Genome Database

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Gene: MRPL51 (mitochondrial ribosomal protein L51) Homo sapiens
Analyze
Symbol: MRPL51
Name: mitochondrial ribosomal protein L51
RGD ID: 1315444
HGNC Page HGNC:14044
Description: Predicted to be a structural constituent of ribosome. Predicted to be involved in mitochondrial translation. Located in mitochondrial ribosome. Part of mitochondrial large ribosomal subunit.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 39S ribosomal protein L51, mitochondrial; bMRP-64; bMRP64; CDA09; HSPC241; L51mt; large ribosomal subunit protein mL51; mitochondrial large ribosomal subunit protein mL51; mitochondrial ribosomal protein 64; mitochondrial ribosomal protein bMRP64; mL51; MRP-L51; MRP64
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: MRPL51P1   MRPL51P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38126,491,886 - 6,493,262 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl126,491,886 - 6,493,841 (-)EnsemblGRCh38hg38GRCh38
GRCh37126,601,052 - 6,602,428 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36126,471,577 - 6,472,718 (-)NCBINCBI36Build 36hg18NCBI36
Build 34126,471,578 - 6,472,718NCBI
Celera128,218,232 - 8,219,387 (-)NCBICelera
Cytogenetic Map12p13.31NCBI
HuRef126,455,511 - 6,456,666 (-)NCBIHuRef
CHM1_1126,600,329 - 6,601,484 (-)NCBICHM1_1
T2T-CHM13v2.0126,502,237 - 6,503,613 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
mitochondrial translation  (ISS,NAS)
translation  (IBA,IEA,ISO,ISS)

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:11042152   PMID:11402041   PMID:11543634   PMID:11551941   PMID:12477932   PMID:12706105   PMID:15489334   PMID:20186120   PMID:20601428   PMID:20877624   PMID:21873635   PMID:22939629  
PMID:25278503   PMID:25609649   PMID:26186194   PMID:26344197   PMID:26496610   PMID:27023846   PMID:28380382   PMID:28514442   PMID:28892042   PMID:29802200   PMID:30833792   PMID:31871319  
PMID:32694731   PMID:32877691   PMID:33961781   PMID:34373451   PMID:34800366   PMID:35013218   PMID:35271311   PMID:36424410   PMID:36537216   PMID:39358380  


Genomics

Comparative Map Data
MRPL51
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38126,491,886 - 6,493,262 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl126,491,886 - 6,493,841 (-)EnsemblGRCh38hg38GRCh38
GRCh37126,601,052 - 6,602,428 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36126,471,577 - 6,472,718 (-)NCBINCBI36Build 36hg18NCBI36
Build 34126,471,578 - 6,472,718NCBI
Celera128,218,232 - 8,219,387 (-)NCBICelera
Cytogenetic Map12p13.31NCBI
HuRef126,455,511 - 6,456,666 (-)NCBIHuRef
CHM1_1126,600,329 - 6,601,484 (-)NCBICHM1_1
T2T-CHM13v2.0126,502,237 - 6,503,613 (-)NCBIT2T-CHM13v2.0
Mrpl51
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396125,169,163 - 125,171,355 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6125,168,764 - 125,173,232 (+)EnsemblGRCm39 Ensembl
GRCm386125,192,200 - 125,194,392 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6125,191,801 - 125,196,269 (+)EnsemblGRCm38mm10GRCm38
MGSCv376125,142,218 - 125,144,410 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366125,157,819 - 125,160,011 (+)NCBIMGSCv36mm8
Celera6126,862,086 - 126,864,286 (+)NCBICelera
Cytogenetic Map6F3NCBI
cM Map659.32NCBI
Mrpl51
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84159,677,988 - 159,681,650 (+)NCBIGRCr8
mRatBN7.24157,991,756 - 157,994,715 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4157,992,408 - 157,995,414 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4164,220,833 - 164,223,782 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04160,003,748 - 160,006,698 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04158,639,714 - 158,642,678 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04157,705,790 - 157,709,452 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4157,705,790 - 157,708,748 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04224,722,975 - 224,726,637 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44161,311,611 - 161,314,569 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14161,557,230 - 161,558,448 (+)NCBI
Celera4146,728,787 - 146,731,745 (+)NCBICelera
Cytogenetic Map4q42NCBI
Mrpl51
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554134,135,206 - 4,136,392 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554134,135,206 - 4,136,392 (-)NCBIChiLan1.0ChiLan1.0
MRPL51
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21012,053,306 - 12,054,427 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11212,050,063 - 12,051,108 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0126,622,334 - 6,623,502 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1126,539,516 - 6,540,959 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl126,539,516 - 6,540,959 (-)Ensemblpanpan1.1panPan2
MRPL51
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12738,497,499 - 38,499,089 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2738,497,499 - 38,499,067 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha278,117,578 - 8,119,351 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02738,851,886 - 38,853,660 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2738,852,470 - 38,854,648 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12738,723,887 - 38,725,661 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02738,765,432 - 38,767,206 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0277,596,052 - 7,598,046 (-)NCBIUU_Cfam_GSD_1.0
Mrpl51
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945102,608,330 - 102,609,476 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367091,275,890 - 1,277,025 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367091,275,888 - 1,277,025 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MRPL51
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl564,167,200 - 64,168,983 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1564,167,418 - 64,168,986 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2566,630,184 - 66,630,515 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MRPL51
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1116,532,418 - 6,534,101 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl116,532,431 - 6,533,536 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660631,692,312 - 1,693,987 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mrpl51
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248603,228,155 - 3,229,036 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248603,228,155 - 3,229,037 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MRPL51
10 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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(chr12:77187-34380176)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 12p13.33-12.1(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 12p13.33-13.31(chr12:121055-7272606)x3 copy number gain See cases [RCV000053663] Chr12:121055..7272606 [GRCh38]
Chr12:282465..7425202 [GRCh37]
Chr12:100482..7316469 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
GRCh38/hg38 12p13.33-13.31(chr12:121255-8361746)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053664]|See cases [RCV000053664] Chr12:121255..8361746 [GRCh38]
Chr12:282465..8514342 [GRCh37]
Chr12:100682..8405609 [NCBI36]
Chr12:12p13.33-13.31
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 12p13.33-13.31(chr12:45740-6945196)x3 copy number gain See cases [RCV000135350] Chr12:45740..6945196 [GRCh38]
Chr12:147099..7054359 [GRCh37]
Chr12:17360..6924620 [NCBI36]
Chr12:12p13.33-13.31
pathogenic
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 12p13.33-12.3(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 12p13.33-11.1(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-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
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
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
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173786-8257049)x3 copy number gain See cases [RCV000446749] Chr12:173786..8257049 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1
likely pathogenic
GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3 copy number gain See cases [RCV000510853] Chr12:173786..11677456 [GRCh37]
Chr12:12p13.33-13.2
pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22
pathogenic
NM_016497.4(MRPL51):c.82G>A (p.Val28Met) single nucleotide variant not specified [RCV004328515] Chr12:6492970 [GRCh38]
Chr12:6602136 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3 copy number gain not provided [RCV000683477] Chr12:191242..8122785 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21
pathogenic
NC_000012.12:g.(1_3750000)_(5250000_9000000)del deletion Tumoral calcinosis, hyperphosphatemic, familial, 1 [RCV000758697] Chr12:3750000..5250000 [GRCh38]
Chr12:12p13.33-13.31
pathogenic|not provided
GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497) copy number gain not provided [RCV000767819] Chr12:189216..8185497 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) copy number gain not provided [RCV000767817] Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292) copy number gain not provided [RCV000767818] Chr12:237588..8278292 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.31(chr12:6070459-6737675)x3 copy number gain not provided [RCV000848085] Chr12:6070459..6737675 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3 copy number gain not provided [RCV000846343] Chr12:173786..8393815 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_016497.4(MRPL51):c.207C>G (p.His69Gln) single nucleotide variant not specified [RCV004289293] Chr12:6492451 [GRCh38]
Chr12:6601617 [GRCh37]
Chr12:12p13.31
uncertain significance
NC_000012.11:g.(?_4368352)_(9027607_?)dup duplication Lymphoproliferative syndrome 2 [RCV003105682] Chr12:4368352..9027607 [GRCh37]
Chr12:12p13.32-13.31
uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3 copy number gain not provided [RCV002472514] Chr12:173787..8320544 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.31(chr12:6523329-6606738)x1 copy number loss not provided [RCV001006479] Chr12:6523329..6606738 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.31(chr12:6528194-6606738)x1 copy number loss not provided [RCV001006480] Chr12:6528194..6606738 [GRCh37]
Chr12:12p13.31
uncertain significance
NC_000012.11:g.(?_6438458)_(7362839_?)dup duplication Peroxisome biogenesis disorder 2B [RCV001031288] Chr12:6438458..7362839 [GRCh37]
Chr12:12p13.31
uncertain significance
NC_000012.11:g.(?_6438478)_(7362819_?)dup duplication Temtamy syndrome [RCV001365174] Chr12:6438478..7362819 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3 copy number gain not provided [RCV001537906] Chr12:189145..7730395 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3 copy number gain Obesity [RCV001801197] Chr12:146240..8330229 [GRCh37]
Chr12:12p13.33-13.31
pathogenic
NC_000012.11:g.(?_6438478)_(8248686_?)dup duplication Temtamy syndrome [RCV003120743]|not provided [RCV001913769] Chr12:6438478..8248686 [GRCh37]
Chr12:12p13.31
uncertain significance|no classifications from unflagged records
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
NC_000012.11:g.(?_6438478)_(8756953_?)dup duplication not provided [RCV001970781] Chr12:6438478..8756953 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.31(chr12:6530146-7376398) copy number gain not specified [RCV002052968] Chr12:6530146..7376398 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1
pathogenic
NC_000012.11:g.(?_6438478)_(9027607_?)dup duplication not provided [RCV001943267] Chr12:6438478..9027607 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016497.4(MRPL51):c.225G>T (p.Arg75Ser) single nucleotide variant not specified [RCV004142878] Chr12:6492433 [GRCh38]
Chr12:6601599 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016497.4(MRPL51):c.293T>C (p.Val98Ala) single nucleotide variant not specified [RCV004069456] Chr12:6492365 [GRCh38]
Chr12:6601531 [GRCh37]
Chr12:12p13.31
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 copy number gain not specified [RCV003986979] Chr12:173786..34835641 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_016497.4(MRPL51):c.34C>G (p.Arg12Gly) single nucleotide variant not specified [RCV004500241] Chr12:6493103 [GRCh38]
Chr12:6602269 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016497.4(MRPL51):c.122C>G (p.Pro41Arg) single nucleotide variant not specified [RCV004500227] Chr12:6492930 [GRCh38]
Chr12:6602096 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016497.4(MRPL51):c.155C>A (p.Ala52Asp) single nucleotide variant not specified [RCV004500230] Chr12:6492897 [GRCh38]
Chr12:6602063 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016497.4(MRPL51):c.206A>C (p.His69Pro) single nucleotide variant not specified [RCV004631662] Chr12:6492452 [GRCh38]
Chr12:6601618 [GRCh37]
Chr12:12p13.31
uncertain significance
NC_000012.11:g.(?_6438478)_(6950528_?)dup duplication Lymphoproliferative syndrome 2 [RCV004578457] Chr12:6438478..6950528 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016497.4(MRPL51):c.211A>C (p.Lys71Gln) single nucleotide variant not specified [RCV004638204] Chr12:6492447 [GRCh38]
Chr12:6601613 [GRCh37]
Chr12:12p13.31
uncertain significance
NM_016497.4(MRPL51):c.13C>T (p.Leu5Phe) single nucleotide variant not specified [RCV004638203] Chr12:6493124 [GRCh38]
Chr12:6602290 [GRCh37]
Chr12:12p13.31
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:875
Count of miRNA genes:272
Interacting mature miRNAs:286
Transcripts:ENST00000229238, ENST00000537701, ENST00000538814, ENST00000540949, ENST00000543164, ENST00000543703, ENST00000543959
Prediction methods:Microtar, 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
RH25377  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37126,602,578 - 6,602,673UniSTSGRCh37
Build 36126,472,839 - 6,472,934RGDNCBI36
Celera128,219,494 - 8,219,589RGD
Cytogenetic Map12p13.3-p13.1UniSTS
Cytogenetic Map12p13.3UniSTS
HuRef126,456,773 - 6,456,868UniSTS
RH93703  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37126,601,555 - 6,602,121UniSTSGRCh37
Celera128,218,471 - 8,219,037UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map12p13.3-p13.1UniSTS
HuRef126,455,750 - 6,456,316UniSTS
GeneMap99-GB4 RH Map1239.88UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1951 465 2269 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence


Ensembl Acc Id: ENST00000229238   ⟹   ENSP00000229238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,491,886 - 6,493,262 (-)Ensembl
Ensembl Acc Id: ENST00000537701   ⟹   ENSP00000480329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,492,103 - 6,493,841 (-)Ensembl
Ensembl Acc Id: ENST00000538814   ⟹   ENSP00000478132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,492,152 - 6,493,046 (-)Ensembl
Ensembl Acc Id: ENST00000540949   ⟹   ENSP00000478326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,492,281 - 6,493,295 (-)Ensembl
Ensembl Acc Id: ENST00000543164   ⟹   ENSP00000482353
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,492,147 - 6,493,840 (-)Ensembl
Ensembl Acc Id: ENST00000543703   ⟹   ENSP00000471687
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,492,151 - 6,493,840 (-)Ensembl
Ensembl Acc Id: ENST00000543959   ⟹   ENSP00000477598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl126,492,152 - 6,493,718 (-)Ensembl
RefSeq Acc Id: NM_016497   ⟹   NP_057581
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,491,886 - 6,493,262 (-)NCBI
GRCh37126,601,316 - 6,602,471 (-)RGD
Build 36126,471,577 - 6,472,718 (-)NCBI Archive
Celera128,218,232 - 8,219,387 (-)RGD
HuRef126,455,511 - 6,456,666 (-)RGD
CHM1_1126,600,329 - 6,601,484 (-)NCBI
T2T-CHM13v2.0126,502,237 - 6,503,613 (-)NCBI
Sequence:
RefSeq Acc Id: NP_057581   ⟸   NM_016497
- UniProtKB: Q4U2R6 (UniProtKB/Swiss-Prot),   Q9BQ36 (UniProtKB/Swiss-Prot),   Q96Q57 (UniProtKB/Swiss-Prot),   Q9P0N7 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000477598   ⟸   ENST00000543959
Ensembl Acc Id: ENSP00000471687   ⟸   ENST00000543703
Ensembl Acc Id: ENSP00000482353   ⟸   ENST00000543164
Ensembl Acc Id: ENSP00000229238   ⟸   ENST00000229238
Ensembl Acc Id: ENSP00000480329   ⟸   ENST00000537701
Ensembl Acc Id: ENSP00000478132   ⟸   ENST00000538814
Ensembl Acc Id: ENSP00000478326   ⟸   ENST00000540949

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q4U2R6-F1-model_v2 AlphaFold Q4U2R6 1-128 view protein structure

Promoters
RGD ID:6790291
Promoter ID:HG_KWN:14814
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000315579,   ENST00000382457,   NM_016497,   UC001QON.1,   UC009ZEN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36126,472,556 - 6,473,947 (+)MPROMDB
RGD ID:6853140
Promoter ID:EP74391
Type:initiation region
Name:HS_MRPL51
Description:Mitochondrial ribosomal protein L51.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36126,472,677 - 6,472,737EPD
RGD ID:7222869
Promoter ID:EPDNEW_H17180
Type:initiation region
Name:MRPL51_1
Description:mitochondrial ribosomal protein L51
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17182  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,493,262 - 6,493,322EPDNEW
RGD ID:7222875
Promoter ID:EPDNEW_H17182
Type:initiation region
Name:MRPL51_2
Description:mitochondrial ribosomal protein L51
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17180  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38126,493,799 - 6,493,859EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14044 AgrOrtholog
COSMIC MRPL51 COSMIC
Ensembl Genes ENSG00000111639 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000229238 ENTREZGENE
  ENST00000229238.5 UniProtKB/Swiss-Prot
  ENST00000537701.5 UniProtKB/TrEMBL
  ENST00000538814.5 UniProtKB/TrEMBL
  ENST00000540949.1 UniProtKB/TrEMBL
  ENST00000543164.5 UniProtKB/TrEMBL
  ENST00000543703.1 UniProtKB/TrEMBL
  ENST00000543959.5 UniProtKB/TrEMBL
GTEx ENSG00000111639 GTEx
HGNC ID HGNC:14044 ENTREZGENE
Human Proteome Map MRPL51 Human Proteome Map
InterPro Ribosomal_L51_mit UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51258 UniProtKB/Swiss-Prot
NCBI Gene 51258 ENTREZGENE
OMIM 611855 OMIM
PANTHER 39S RIBOSOMAL PROTEIN L51, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MRP-L51 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30984 PharmGKB
UniProt A0A087WU28_HUMAN UniProtKB/TrEMBL
  A0A0B4J2C1_HUMAN UniProtKB/TrEMBL
  M0R176_HUMAN UniProtKB/TrEMBL
  Q4U2R6 ENTREZGENE
  Q96Q57 ENTREZGENE
  Q9BQ36 ENTREZGENE
  Q9P0N7 ENTREZGENE
  RM51_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q96Q57 UniProtKB/Swiss-Prot
  Q9BQ36 UniProtKB/Swiss-Prot
  Q9P0N7 UniProtKB/Swiss-Prot