MRPS6 (mitochondrial ribosomal protein S6) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: MRPS6 (mitochondrial ribosomal protein S6) Homo sapiens
Analyze
Symbol: MRPS6
Name: mitochondrial ribosomal protein S6
RGD ID: 1312391
HGNC Page HGNC:14051
Description: Predicted to enable small ribosomal subunit rRNA binding activity. Predicted to be a structural constituent of ribosome. Predicted to be involved in mitochondrial translation. Located in mitochondrion. Part of mitochondrial small ribosomal subunit.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 28S ribosomal protein S6, mitochondrial; bS6m; C21orf101; mitochondrial small ribosomal subunit protein bS6m; MRP-S6; RPMS6; S6mt; small ribosomal subunit protein bS6m
RGD Orthologs
Mouse
Rat
Bonobo
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: MRPS6P1   MRPS6P2   MRPS6P4  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382134,073,578 - 34,143,030 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2134,073,224 - 34,362,252 (+)EnsemblGRCh38hg38GRCh38
GRCh372135,445,878 - 35,515,330 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362134,367,693 - 34,437,200 (+)NCBINCBI36Build 36hg18NCBI36
Build 342134,367,692 - 34,437,198NCBI
Celera2120,645,386 - 20,714,895 (+)NCBICelera
Cytogenetic Map21q22.11NCBI
HuRef2120,976,108 - 20,993,807 (+)NCBIHuRef
CHM1_12135,008,095 - 35,077,595 (+)NCBICHM1_1
T2T-CHM13v2.02132,455,648 - 32,525,106 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-methylcholine  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (EXP)
4-hydroxyphenyl retinamide  (ISO)
acrolein  (EXP)
acrylamide  (EXP)
alpha-pinene  (EXP)
amphetamine  (ISO)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
calcitriol  (EXP)
CGP 52608  (EXP)
chloropicrin  (EXP)
choline  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
copper(II) sulfate  (EXP)
corosolic acid  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
DDE  (EXP)
deguelin  (EXP)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
enzyme inhibitor  (EXP)
ethanol  (ISO)
folic acid  (ISO)
folpet  (ISO)
gentamycin  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
indometacin  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
levonorgestrel  (EXP)
lipopolysaccharide  (EXP)
methoxychlor  (ISO)
nickel dichloride  (EXP)
nickel sulfate  (EXP)
oxaliplatin  (ISO)
ozone  (EXP)
paracetamol  (EXP)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (EXP)
pirinixic acid  (ISO)
progesterone  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (EXP)
sodium arsenite  (ISO)
succimer  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
testosterone enanthate  (EXP)
testosterone undecanoate  (EXP)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thapsigargin  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
triphenyl phosphate  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10830953   PMID:11279123   PMID:11402041   PMID:11543634   PMID:12036297   PMID:12477932   PMID:12706105   PMID:14702039   PMID:15489334   PMID:16159877   PMID:16169070   PMID:17207965  
PMID:19198609   PMID:19240061   PMID:20186120   PMID:20738937   PMID:20877624   PMID:20971364   PMID:21378990   PMID:21832049   PMID:21873635   PMID:21988832   PMID:22458338   PMID:23602568  
PMID:24981860   PMID:25416956   PMID:25838379   PMID:26186194   PMID:26344197   PMID:26472337   PMID:26496610   PMID:26687479   PMID:26725010   PMID:27023846   PMID:27432908   PMID:28514442  
PMID:28718761   PMID:29117863   PMID:29229926   PMID:29395067   PMID:29568061   PMID:29802200   PMID:29845934   PMID:30209976   PMID:30572598   PMID:30833792   PMID:30884312   PMID:31056398  
PMID:31091453   PMID:31617661   PMID:31822558   PMID:31871319   PMID:31980649   PMID:32296183   PMID:32628020   PMID:32640226   PMID:32707033   PMID:32877691   PMID:33306668   PMID:33644029  
PMID:33853758   PMID:33957083   PMID:33961781   PMID:33964376   PMID:34079125   PMID:34662580   PMID:34709727   PMID:34800366   PMID:35013218   PMID:35063084   PMID:35140242   PMID:35271311  
PMID:35384245   PMID:35446349   PMID:35563538   PMID:35944360   PMID:37071682   PMID:37249651   PMID:37758822   PMID:37866880   PMID:38113892  


Genomics

Comparative Map Data
MRPS6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382134,073,578 - 34,143,030 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2134,073,224 - 34,362,252 (+)EnsemblGRCh38hg38GRCh38
GRCh372135,445,878 - 35,515,330 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362134,367,693 - 34,437,200 (+)NCBINCBI36Build 36hg18NCBI36
Build 342134,367,692 - 34,437,198NCBI
Celera2120,645,386 - 20,714,895 (+)NCBICelera
Cytogenetic Map21q22.11NCBI
HuRef2120,976,108 - 20,993,807 (+)NCBIHuRef
CHM1_12135,008,095 - 35,077,595 (+)NCBICHM1_1
T2T-CHM13v2.02132,455,648 - 32,525,106 (+)NCBIT2T-CHM13v2.0
Mrps6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391691,855,224 - 91,909,115 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1691,855,158 - 91,909,115 (+)EnsemblGRCm39 Ensembl
GRCm381692,058,336 - 92,112,227 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1692,058,270 - 92,112,227 (+)EnsemblGRCm38mm10GRCm38
MGSCv371692,058,581 - 92,112,472 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361691,947,195 - 92,001,086 (+)NCBIMGSCv36mm8
Celera1693,184,244 - 93,196,878 (+)NCBICelera
Cytogenetic Map16C4NCBI
cM Map1653.44NCBI
Mrps6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81144,778,667 - 44,834,420 (+)NCBIGRCr8
mRatBN7.21131,295,358 - 31,348,483 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1131,295,614 - 31,348,484 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01132,208,246 - 32,263,999 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1132,211,115 - 32,263,899 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01135,815,281 - 35,868,916 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41131,998,158 - 32,097,913 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11132,054,415 - 32,154,155 (+)NCBI
Celera1130,951,984 - 31,005,364 (+)NCBICelera
Cytogenetic Map11q11NCBI
MRPS6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22230,191,861 - 30,261,300 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12125,050,026 - 25,119,478 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02120,441,365 - 20,510,800 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12133,809,456 - 33,879,670 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2133,862,033 - 33,879,670 (+)Ensemblpanpan1.1panPan2
Mrps6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497129,201,108 - 29,217,575 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365008,250,248 - 8,267,241 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365008,250,254 - 8,266,725 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MRPS6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.113197,687,906 - 197,756,773 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213207,518,381 - 207,553,021 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MRPS6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1258,062,923 - 58,130,815 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl258,063,353 - 58,130,637 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666071565,893 - 633,757 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mrps6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474522,231,776 - 22,304,147 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474522,231,789 - 22,304,147 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MRPS6
27 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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(chr21:7749532-46623792)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(chr21:7749532-46623792)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(chr21:7749532-46670546)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 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(chr21:7749532-46661140)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 [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [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
GRCh37/hg19 21q22.1(chr21:35292816-36834601)x3 copy number gain See cases [RCV000053070] Chr21:35292816..36834601 [GRCh37]
Chr21:34214686..35756471 [NCBI36]
Chr21:21q22.1
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(chr21:7749532-42971047)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
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 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(chr21:7749532-46670440)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 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
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 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(chr21:7749532-46660999)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
GRCh37/hg19 21q22.11-22.12(chr21:34997018-36118212)x3 copy number gain See cases [RCV000136827] Chr21:34997018..36118212 [GRCh37]
Chr21:33918888..35040082 [NCBI36]
Chr21:21q22.11-22.12
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
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 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 [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting data from submitters
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
GRCh37/hg19 21q21.3-22.12(chr21:29880468-36062331)x1 copy number loss See cases [RCV000141575] Chr21:29880468..36062331 [GRCh37]
Chr21:28802339..34984201 [NCBI36]
Chr21:21q21.3-22.12
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 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 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 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
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
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)x3 copy number gain See cases [RCV000446716] Chr21:15006457..43598570 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)x3 copy number gain See cases [RCV000448874] Chr21:29812033..39282854 [GRCh37]
Chr21:21q21.3-22.13
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3 copy number gain See cases [RCV000448199] Chr21:15006457..44827632 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_032476.4(MRPS6):c.278T>C (p.Ile93Thr) single nucleotide variant not specified [RCV004313710] Chr21:34142500 [GRCh38]
Chr21:35514800 [GRCh37]
Chr21:21q22.11
uncertain significance
GRCh37/hg19 21q22.11-22.2(chr21:33980213-42542987)x3 copy number gain not provided [RCV000684166] Chr21:33980213..42542987 [GRCh37]
Chr21:21q22.11-22.2
pathogenic
GRCh37/hg19 21q22.11-22.12(chr21:35313088-36864916)x3 copy number gain not provided [RCV000684159] Chr21:35313088..36864916 [GRCh37]
Chr21:21q22.11-22.12
uncertain significance
GRCh37/hg19 21q22.11(chr21:34281910-35748170)x1 copy number loss not provided [RCV000709834] Chr21:34281910..35748170 [GRCh37]
Chr21:21q22.11
not provided
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.11(chr21:35445378-35446561)x1 copy number loss not provided [RCV000741541] Chr21:35445378..35446561 [GRCh37]
Chr21:21q22.11
benign
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.11-22.12(chr21:35298070-36876005)x1 copy number loss not provided [RCV000846552] Chr21:35298070..36876005 [GRCh37]
Chr21:21q22.11-22.12
pathogenic
NM_006933.7(SLC5A3):c.1203C>T (p.Ser401=) single nucleotide variant not provided [RCV000934226] Chr21:34096401 [GRCh38]
Chr21:35468700 [GRCh37]
Chr21:21q22.11
likely benign
GRCh37/hg19 21q22.11-22.12(chr21:33205064-36039022) copy number loss 21q22.11q22.12 microdeletion syndrome [RCV001093501] Chr21:33205064..36039022 [GRCh37]
Chr21:21q22.11-22.12
pathogenic
NC_000021.8:g.35304341_36865875del deletion Hereditary thrombocytopenia and hematologic cancer predisposition syndrome [RCV003448360]|Thrombocytopenia [RCV001003847] Chr21:35304341..36865875 [GRCh37]
Chr21:21q22.11-22.12
pathogenic|likely pathogenic
NC_000021.8:g.35304355_36865958del deletion Thrombocytopenia [RCV001003848] Chr21:35304355..36865958 [GRCh37]
Chr21:21q22.11-22.12
likely pathogenic
GRCh37/hg19 21q22.11(chr21:34379096-35572731)x1 copy number loss not provided [RCV001259407] Chr21:34379096..35572731 [GRCh37]
Chr21:21q22.11
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3 copy number gain Down syndrome [RCV002284306] Chr21:14420615..48080926 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NC_000021.8:g.(?_32439271)_(37133458_?)dup duplication Early-onset Parkinson disease 20 [RCV001338842] Chr21:32439271..37133458 [GRCh37]
Chr21:21q22.11-22.12
uncertain significance
Single allele deletion ZTTK syndrome [RCV002247722] Chr21:32213458..34373118 [GRCh38]
Chr21:21q22.11
pathogenic
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3 copy number gain See cases [RCV001780078] Chr21:1..48129895 [GRCh37]
Chr21:21p13-q22.3
pathogenic
GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854) copy number gain not specified [RCV002052729] Chr21:29812033..39282854 [GRCh37]
Chr21:21q21.3-22.13
pathogenic
GRCh37/hg19 21q21.3-22.12(chr21:27185913-35853445) copy number loss not specified [RCV002052728] Chr21:27185913..35853445 [GRCh37]
Chr21:21q21.3-22.12
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV001829203] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372) copy number gain not specified [RCV002052723] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372) copy number gain not specified [RCV002052725] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372) copy number gain not specified [RCV002052724] Chr21:15041209..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.11-22.12(chr21:35298070-36876005) copy number gain not specified [RCV002052735] Chr21:35298070..36876005 [GRCh37]
Chr21:21q22.11-22.12
uncertain significance
NC_000021.8:g.(?_32439271)_(39212984_?)dup duplication Amyotrophic lateral sclerosis type 1 [RCV001939883]|DYRK1A-related intellectual disability syndrome [RCV003107882]|Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 [RCV004579580]|Immunodeficiency 28 [RCV004579581] Chr21:32439271..39212984 [GRCh37]
Chr21:21q22.11-22.13
uncertain significance
NM_006933.7(SLC5A3):c.1928A>C (p.Glu643Ala) single nucleotide variant not specified [RCV004296726] Chr21:34097126 [GRCh38]
Chr21:35469425 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_006933.7(SLC5A3):c.1195C>T (p.Arg399Cys) single nucleotide variant not specified [RCV004327303] Chr21:34096393 [GRCh38]
Chr21:35468692 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_032476.4(MRPS6):c.70C>T (p.Arg24Cys) single nucleotide variant not specified [RCV004183893] Chr21:34125365 [GRCh38]
Chr21:35497665 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_006933.7(SLC5A3):c.2005C>A (p.Leu669Ile) single nucleotide variant not specified [RCV004207172] Chr21:34097203 [GRCh38]
Chr21:35469502 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_032476.4(MRPS6):c.97G>C (p.Gly33Arg) single nucleotide variant not specified [RCV004190456] Chr21:34125392 [GRCh38]
Chr21:35497692 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_006933.7(SLC5A3):c.274C>T (p.Leu92Phe) single nucleotide variant not specified [RCV004187550] Chr21:34095472 [GRCh38]
Chr21:35467771 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_006933.7(SLC5A3):c.554A>G (p.Asp185Gly) single nucleotide variant not specified [RCV004155762] Chr21:34095752 [GRCh38]
Chr21:35468051 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_006933.7(SLC5A3):c.1249T>G (p.Phe417Val) single nucleotide variant not specified [RCV004181168] Chr21:34096447 [GRCh38]
Chr21:35468746 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_006933.7(SLC5A3):c.106G>A (p.Val36Met) single nucleotide variant not specified [RCV004128300] Chr21:34095304 [GRCh38]
Chr21:35467603 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_006933.7(SLC5A3):c.1282A>G (p.Ile428Val) single nucleotide variant not specified [RCV004075174] Chr21:34096480 [GRCh38]
Chr21:35468779 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_006933.7(SLC5A3):c.1792C>T (p.Leu598Phe) single nucleotide variant not specified [RCV004086815] Chr21:34096990 [GRCh38]
Chr21:35469289 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_032476.4(MRPS6):c.358A>G (p.Thr120Ala) single nucleotide variant not specified [RCV004258023] Chr21:34142580 [GRCh38]
Chr21:35514880 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_032476.4(MRPS6):c.230G>A (p.Ser77Asn) single nucleotide variant not specified [RCV004252257] Chr21:34142452 [GRCh38]
Chr21:35514752 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_032476.4(MRPS6):c.316G>A (p.Glu106Lys) single nucleotide variant not specified [RCV004357676] Chr21:34142538 [GRCh38]
Chr21:35514838 [GRCh37]
Chr21:21q22.11
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3 copy number gain not provided [RCV003485218] Chr21:15006458..45674637 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3 copy number gain not provided [RCV003485222] Chr21:33015681..48097372 [GRCh37]
Chr21:21q22.11-22.3
pathogenic
GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3 copy number gain not specified [RCV003986158] Chr21:34092685..48097372 [GRCh37]
Chr21:21q22.11-22.3
pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3 copy number gain not specified [RCV003986149] Chr21:30685776..48097372 [GRCh37]
Chr21:21q21.3-22.3
pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3 copy number gain not specified [RCV003986152] Chr21:26929299..48097372 [GRCh37]
Chr21:21q21.3-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3 copy number gain not specified [RCV003986160] Chr21:15023401..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_006933.7(SLC5A3):c.223A>G (p.Ser75Gly) single nucleotide variant not specified [RCV004464094] Chr21:34095421 [GRCh38]
Chr21:35467720 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_032476.4(MRPS6):c.83C>A (p.Ala28Asp) single nucleotide variant not specified [RCV004498064] Chr21:34125378 [GRCh38]
Chr21:35497678 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_006933.7(SLC5A3):c.1804G>T (p.Asp602Tyr) single nucleotide variant not specified [RCV004464092] Chr21:34097002 [GRCh38]
Chr21:35469301 [GRCh37]
Chr21:21q22.11
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3 copy number gain not provided [RCV004577449] Chr21:15380398..48100790 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_006933.7(SLC5A3):c.1636T>C (p.Phe546Leu) single nucleotide variant not specified [RCV004464091] Chr21:34096834 [GRCh38]
Chr21:35469133 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_032476.4(MRPS6):c.266T>G (p.Ile89Ser) single nucleotide variant not specified [RCV004498046] Chr21:34142488 [GRCh38]
Chr21:35514788 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_006933.7(SLC5A3):c.1187A>C (p.Lys396Thr) single nucleotide variant not specified [RCV004464090] Chr21:34096385 [GRCh38]
Chr21:35468684 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_006933.7(SLC5A3):c.2055A>C (p.Leu685Phe) single nucleotide variant not specified [RCV004464093] Chr21:34097253 [GRCh38]
Chr21:35469552 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_032476.4(MRPS6):c.157G>A (p.Ala53Thr) single nucleotide variant not specified [RCV004498039] Chr21:34125452 [GRCh38]
Chr21:35497752 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_006933.7(SLC5A3):c.2033T>A (p.Met678Lys) single nucleotide variant not specified [RCV004674911] Chr21:34097231 [GRCh38]
Chr21:35469530 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_006933.7(SLC5A3):c.2059A>T (p.Met687Leu) single nucleotide variant not specified [RCV004683812] Chr21:34097257 [GRCh38]
Chr21:35469556 [GRCh37]
Chr21:21q22.11
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1535
Count of miRNA genes:436
Interacting mature miRNAs:471
Transcripts:ENST00000399312, ENST00000477091, ENST00000482679, ENST00000483977, ENST00000488492
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597285950GWAS1382024_HCOVID-19 QTL GWAS1382024 (human)0.000002COVID-19213413964734139648Human
597049823GWAS1145897_Herythrocyte count QTL GWAS1145897 (human)9e-12erythrocyte countred blood cell count (CMO:0000025)213409238834092389Human
596951997GWAS1071516_HCOVID-19 QTL GWAS1071516 (human)0.000002COVID-19213413964734139648Human
2303081MAMTS49_HMammary tumor susceptibility QTL 49 (human)1.72Mammary tumor susceptibility211795044843950448Human
597406886GWAS1502960_Hglucose measurement QTL GWAS1502960 (human)0.000004glucose measurementblood glucose level (CMO:0000046)213409320734093208Human
597060440GWAS1156514_HBMI-adjusted waist-hip ratio QTL GWAS1156514 (human)5e-08body size trait (VT:0100005)213409630634096307Human

Markers in Region
WI-11818  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,515,136 - 35,515,285UniSTSGRCh37
Build 362134,437,006 - 34,437,155RGDNCBI36
Celera2120,714,697 - 20,714,846RGD
Cytogenetic Map21q22.11UniSTS
HuRef2120,993,609 - 20,993,758UniSTS
GeneMap99-GB4 RH Map21152.01UniSTS
Whitehead-RH Map21163.4UniSTS
NCBI RH Map21258.5UniSTS
RH104128  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,476,159 - 35,476,348UniSTSGRCh37
Build 362134,398,029 - 34,398,218RGDNCBI36
Celera2120,675,720 - 20,675,909RGD
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map21q22.12UniSTS
HuRef2120,954,616 - 20,954,805UniSTS
GeneMap99-GB4 RH Map21157.95UniSTS
Cda0ae11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,475,428 - 35,475,552UniSTSGRCh37
Build 362134,397,298 - 34,397,422RGDNCBI36
Celera2120,674,989 - 20,675,113RGD
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map21q22.12UniSTS
HuRef2120,953,884 - 20,954,008UniSTS
GeneMap99-GB4 RH Map21157.84UniSTS
SHGC-87543  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,478,348 - 35,478,451UniSTSGRCh37
Build 362134,400,218 - 34,400,321RGDNCBI36
Celera2120,677,909 - 20,678,012RGD
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map21q22.12UniSTS
HuRef2120,956,805 - 20,956,908UniSTS
TNG Radiation Hybrid Map2112068.0UniSTS
GeneMap99-GB4 RH Map21149.1UniSTS
MRPS6_3115.2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,514,766 - 35,515,314UniSTSGRCh37
Build 362134,436,636 - 34,437,184RGDNCBI36
Celera2120,714,327 - 20,714,875RGD
HuRef2120,993,239 - 20,993,787UniSTS
G20293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,475,350 - 35,475,606UniSTSGRCh37
Build 362134,397,220 - 34,397,476RGDNCBI36
Celera2120,674,911 - 20,675,167RGD
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map21q22.12UniSTS
HuRef2120,953,806 - 20,954,062UniSTS
A005K42  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,475,350 - 35,475,606UniSTSGRCh37
Build 362134,397,220 - 34,397,476RGDNCBI36
Celera2120,674,911 - 20,675,167RGD
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map21q22.12UniSTS
HuRef2120,953,806 - 20,954,062UniSTS
GeneMap99-GB4 RH Map21154.61UniSTS
RH78031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,478,265 - 35,478,402UniSTSGRCh37
Build 362134,400,135 - 34,400,272RGDNCBI36
Celera2120,677,826 - 20,677,963RGD
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map21q22.12UniSTS
HuRef2120,956,722 - 20,956,859UniSTS
GeneMap99-GB4 RH Map21170.91UniSTS
D21S1941  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,515,099 - 35,515,257UniSTSGRCh37
Build 362134,436,969 - 34,437,127RGDNCBI36
Celera2120,714,660 - 20,714,818RGD
Cytogenetic Map21q22.11UniSTS
HuRef2120,993,572 - 20,993,730UniSTS
GeneMap99-GB4 RH Map21154.82UniSTS
Whitehead-RH Map21162.9UniSTS
Whitehead-YAC Contig Map21 UniSTS
SHGC-87556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,475,471 - 35,475,597UniSTSGRCh37
Build 362134,397,341 - 34,397,467RGDNCBI36
Celera2120,675,032 - 20,675,158RGD
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map21q22.12UniSTS
HuRef2120,953,927 - 20,954,053UniSTS
TNG Radiation Hybrid Map2112053.0UniSTS
GeneMap99-GB4 RH Map21154.3UniSTS
Whitehead-RH Map21162.8UniSTS
RH35989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,473,438 - 35,473,686UniSTSGRCh37
Build 362134,395,308 - 34,395,556RGDNCBI36
Celera2120,672,999 - 20,673,247RGD
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map21q22.12UniSTS
HuRef2120,951,894 - 20,952,142UniSTS
GeneMap99-GB4 RH Map21163.62UniSTS
A004F10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,515,196 - 35,515,297UniSTSGRCh37
Build 362134,437,066 - 34,437,167RGDNCBI36
Celera2120,714,757 - 20,714,858RGD
Cytogenetic Map21q22.11UniSTS
HuRef2120,993,669 - 20,993,770UniSTS
GeneMap99-GB4 RH Map21155.01UniSTS
NCBI RH Map21258.5UniSTS
SLC5A3_3862  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,468,806 - 35,469,681UniSTSGRCh37
Build 362134,390,676 - 34,391,551RGDNCBI36
Celera2120,668,367 - 20,669,242RGD
HuRef2120,947,260 - 20,948,135UniSTS


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

Nucleotide Sequences
RefSeq Transcripts NM_032476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB049942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB051347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI799469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY061855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG720377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB571303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000362077   ⟹   ENSP00000520522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2134,073,592 - 34,362,252 (+)Ensembl
Ensembl Acc Id: ENST00000399312   ⟹   ENSP00000382250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2134,073,578 - 34,143,030 (+)Ensembl
Ensembl Acc Id: ENST00000477091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2134,073,549 - 34,143,034 (+)Ensembl
Ensembl Acc Id: ENST00000482679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2134,123,953 - 34,143,034 (+)Ensembl
Ensembl Acc Id: ENST00000483977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2134,122,174 - 34,143,034 (+)Ensembl
Ensembl Acc Id: ENST00000488492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2134,073,224 - 34,143,034 (+)Ensembl
Ensembl Acc Id: ENST00000715810   ⟹   ENSP00000520521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2134,073,578 - 34,183,255 (+)Ensembl
RefSeq Acc Id: NM_032476   ⟹   NP_115865
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,073,578 - 34,143,030 (+)NCBI
GRCh372135,445,823 - 35,515,334 (+)RGD
Build 362134,367,693 - 34,437,200 (+)NCBI Archive
Celera2120,645,386 - 20,714,895 (+)RGD
HuRef2120,976,108 - 20,993,807 (+)RGD
CHM1_12135,008,095 - 35,077,595 (+)NCBI
T2T-CHM13v2.02132,455,648 - 32,525,106 (+)NCBI
Sequence:
RefSeq Acc Id: NP_115865   ⟸   NM_032476
- UniProtKB: P82932 (UniProtKB/Swiss-Prot),   Q9BSK8 (UniProtKB/Swiss-Prot),   Q96Q64 (UniProtKB/Swiss-Prot),   B2R573 (UniProtKB/Swiss-Prot),   Q9BW89 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000382250   ⟸   ENST00000399312
Ensembl Acc Id: ENSP00000520521   ⟸   ENST00000715810
Ensembl Acc Id: ENSP00000520522   ⟸   ENST00000362077

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P82932-F1-model_v2 AlphaFold P82932 1-125 view protein structure

Promoters
RGD ID:13602710
Promoter ID:EPDNEW_H27539
Type:initiation region
Name:MRPS6_1
Description:mitochondrial ribosomal protein S6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27541  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,073,207 - 34,073,267EPDNEW
RGD ID:13602714
Promoter ID:EPDNEW_H27541
Type:initiation region
Name:MRPS6_2
Description:mitochondrial ribosomal protein S6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27539  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,087,731 - 34,087,791EPDNEW
RGD ID:6799267
Promoter ID:HG_KWN:40716
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000399312,   OTTHUMT00000141036,   OTTHUMT00000193779,   OTTHUMT00000194067,   UC002YTO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362134,366,841 - 34,367,862 (+)MPROMDB
RGD ID:6853212
Promoter ID:EP74427
Type:initiation region
Name:HS_MRPS6
Description:Mitochondrial ribosomal protein S6.
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 362134,367,748 - 34,367,808EPD
RGD ID:6799511
Promoter ID:HG_KWN:40718
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_2Hour
Transcripts:ENST00000381143,   OTTHUMT00000141034,   OTTHUMT00000141035
Position:
Human AssemblyChrPosition (strand)Source
Build 362134,418,011 - 34,418,511 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14051 AgrOrtholog
COSMIC MRPS6 COSMIC
Ensembl Genes ENSG00000243927 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000399312 ENTREZGENE
  ENST00000399312.3 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.70.60 UniProtKB/Swiss-Prot
GTEx ENSG00000243927 GTEx
HGNC ID HGNC:14051 ENTREZGENE
Human Proteome Map MRPS6 Human Proteome Map
InterPro Ribosomal_S6 UniProtKB/Swiss-Prot
  Ribosomal_S6_sf UniProtKB/Swiss-Prot
  Transl_elong_EF1B/ribosomal_S6 UniProtKB/Swiss-Prot
KEGG Report hsa:64968 UniProtKB/Swiss-Prot
NCBI Gene 64968 ENTREZGENE
OMIM 611973 OMIM
PANTHER 28S RIBOSOMAL PROTEIN S6, MITOCHONDRIAL UniProtKB/Swiss-Prot
  PTHR21011 UniProtKB/Swiss-Prot
Pfam Ribosomal_S6 UniProtKB/Swiss-Prot
PharmGKB PA31025 PharmGKB
Superfamily-SCOP SSF54995 UniProtKB/Swiss-Prot
UniProt B2R573 ENTREZGENE
  P82932 ENTREZGENE
  Q96Q64 ENTREZGENE
  Q9BSK8 ENTREZGENE
  Q9BW89 ENTREZGENE
  RT06_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2R573 UniProtKB/Swiss-Prot
  Q96Q64 UniProtKB/Swiss-Prot
  Q9BSK8 UniProtKB/Swiss-Prot
  Q9BW89 UniProtKB/Swiss-Prot