RPS27A (ribosomal protein S27a) - Rat Genome Database

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Gene: RPS27A (ribosomal protein S27a) Homo sapiens
Analyze
Symbol: RPS27A
Name: ribosomal protein S27a
RGD ID: 736388
HGNC Page HGNC:10417
Description: A structural constituent of ribosome. Involved in ribosomal small subunit biogenesis. Located in several cellular components, including cytoplasm; extracellular exosome; and nucleolus. Part of cytosolic small ribosomal subunit and small-subunit processome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 40S ribosomal protein S27a; CEP80; epididymis luminal protein 112; eS31; HEL112; HUBCEP80; S27A; UBA80; UBC; UBCEP1; UBCEP80; ubiquitin and ribosomal protein S27a; ubiquitin C; ubiquitin carboxyl extension protein 80; ubiquitin-40S ribosomal protein S27a; ubiquitin-CEP80
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: RPS27AP1   RPS27AP10   RPS27AP11   RPS27AP12   RPS27AP13   RPS27AP14   RPS27AP15   RPS27AP16   RPS27AP17   RPS27AP18   RPS27AP2   RPS27AP20   RPS27AP3   RPS27AP4   RPS27AP5   RPS27AP6   RPS27AP7   RPS27AP8   RPS27AP9  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38255,231,903 - 55,235,853 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl255,231,903 - 55,235,853 (+)EnsemblGRCh38hg38GRCh38
GRCh37255,459,039 - 55,462,989 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36255,313,328 - 55,316,249 (+)NCBINCBI36Build 36hg18NCBI36
Build 34255,371,474 - 55,374,396NCBI
Celera255,299,565 - 55,303,515 (+)NCBICelera
Cytogenetic Map2p16.1NCBI
HuRef255,193,794 - 55,197,744 (+)NCBIHuRef
CHM1_1255,389,096 - 55,393,046 (+)NCBICHM1_1
T2T-CHM13v2.0255,229,133 - 55,233,083 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
(S)-nicotine  (EXP)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
acetylsalicylic acid  (EXP)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
amosite asbestos  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenic trichloride  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
Azaspiracid  (EXP)
azoxystrobin  (EXP)
benzatropine  (EXP)
benzene  (ISO)
benzo[a]pyrene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
cadmium dichloride  (EXP)
caffeine  (EXP)
cannabidiol  (EXP)
CGP 52608  (EXP)
chloropicrin  (EXP)
cisplatin  (ISO)
clofibric acid  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
crocidolite asbestos  (EXP)
Cuprizon  (EXP)
cypermethrin  (ISO)
DDT  (ISO)
diarsenic trioxide  (EXP)
dicrotophos  (EXP)
dinophysistoxin 1  (EXP)
enzalutamide  (EXP)
enzyme inhibitor  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
fenpyroximate  (EXP)
fenthion  (ISO)
fipronil  (ISO)
folic acid  (ISO)
FR900359  (EXP)
furan  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
haloperidol  (EXP)
hydralazine  (EXP)
indometacin  (ISO)
isoprenaline  (ISO)
ivermectin  (EXP)
methamphetamine  (ISO)
naphthalene  (ISO)
nefazodone  (ISO)
nicotine  (EXP)
nimesulide  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
picoxystrobin  (EXP)
potassium dichromate  (EXP)
pyrimidifen  (EXP)
rac-lactic acid  (EXP)
rotenone  (EXP)
silicon dioxide  (EXP)
tetrachloromethane  (ISO)
tolcapone  (ISO)
tungsten  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Structures of the human and Drosophila 80S ribosome. Anger AM, etal., Nature. 2013 May 2;497(7447):80-5. doi: 10.1038/nature12104.
2. Functional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits. O'Donohue MF, etal., J Cell Biol. 2010 Sep 6;190(5):853-66. doi: 10.1083/jcb.201005117.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Ubiquitin and ubiquitin-conjugated protein expression in the rat cerebral cortex and hippocampus following traumatic brain injury (TBI). Yao X, etal., Brain Res. 2007 Nov 28;1182:116-22. Epub 2007 Sep 14.
Additional References at PubMed
PMID:1370760   PMID:1657614   PMID:1660345   PMID:2537304   PMID:2538756   PMID:2581967   PMID:8125298   PMID:8706699   PMID:8722009   PMID:9582194   PMID:10772958   PMID:10882101  
PMID:10995389   PMID:11031247   PMID:11231585   PMID:11285280   PMID:11733996   PMID:11875025   PMID:11931757   PMID:12477932   PMID:12588972   PMID:12609980   PMID:12787561   PMID:12791267  
PMID:12960054   PMID:14702039   PMID:14755250   PMID:14764729   PMID:15029244   PMID:15039775   PMID:15143060   PMID:15146197   PMID:15189156   PMID:15231748   PMID:15276183   PMID:15489334  
PMID:15647830   PMID:15721744   PMID:15761153   PMID:15883184   PMID:15936278   PMID:16009940   PMID:16169070   PMID:16189514   PMID:16344560   PMID:16502470   PMID:16791210   PMID:16997282  
PMID:17207965   PMID:17304240   PMID:17620599   PMID:19061985   PMID:19190083   PMID:19199708   PMID:19738201   PMID:19946888   PMID:20374249   PMID:20458337   PMID:20473970   PMID:21081503  
PMID:21163940   PMID:21319273   PMID:21561866   PMID:21630459   PMID:21832049   PMID:21873635   PMID:21988832   PMID:22145905   PMID:22174317   PMID:22623428   PMID:22658674   PMID:22681889  
PMID:22716248   PMID:22863883   PMID:22939629   PMID:23246001   PMID:23376485   PMID:23398456   PMID:23455922   PMID:23533145   PMID:24104479   PMID:24189400   PMID:24244333   PMID:24399297  
PMID:24457600   PMID:24680683   PMID:24833360   PMID:24981860   PMID:24999758   PMID:25416956   PMID:25437307   PMID:25592822   PMID:25756610   PMID:25798074   PMID:25901680   PMID:25963833  
PMID:26186194   PMID:26286193   PMID:26344197   PMID:26398855   PMID:26460568   PMID:26496610   PMID:26527279   PMID:26561776   PMID:26942564   PMID:26972000   PMID:27432908   PMID:27462432  
PMID:27578003   PMID:27591049   PMID:27684187   PMID:28024152   PMID:28225217   PMID:28292943   PMID:28498418   PMID:28514442   PMID:28515276   PMID:28581483   PMID:28735865   PMID:28913776  
PMID:28927264   PMID:28977470   PMID:28977666   PMID:29117863   PMID:29285303   PMID:29298432   PMID:29507755   PMID:29635000   PMID:29845934   PMID:29955894   PMID:30033366   PMID:30085276  
PMID:30194290   PMID:30209976   PMID:30258100   PMID:30344098   PMID:30352685   PMID:30462309   PMID:30463901   PMID:30532072   PMID:30631154   PMID:30745168   PMID:30804502   PMID:30833792  
PMID:30995489   PMID:30997501   PMID:31048545   PMID:31091453   PMID:31239290   PMID:31248990   PMID:31298480   PMID:31363146   PMID:31365120   PMID:31586073   PMID:31796584   PMID:31862882  
PMID:31871319   PMID:31874856   PMID:31901637   PMID:31980649   PMID:31985874   PMID:32120844   PMID:32129710   PMID:32129764   PMID:32203420   PMID:32296183   PMID:32433965   PMID:32552912  
PMID:32614325   PMID:32751694   PMID:32780723   PMID:32807901   PMID:32814053   PMID:32877691   PMID:32941527   PMID:33022573   PMID:33194618   PMID:33277362   PMID:33417871   PMID:33499712  
PMID:33545068   PMID:33644029   PMID:33660365   PMID:33731348   PMID:33916271   PMID:33957083   PMID:33961781   PMID:34133714   PMID:34166715   PMID:34244482   PMID:34373451   PMID:34428256  
PMID:34445801   PMID:34516797   PMID:34591877   PMID:34597346   PMID:34645483   PMID:34650049   PMID:34728620   PMID:34732716   PMID:34761192   PMID:35013218   PMID:35022314   PMID:35073964  
PMID:35256949   PMID:35271311   PMID:35338135   PMID:35446349   PMID:35563538   PMID:35652658   PMID:35676659   PMID:35681168   PMID:35803934   PMID:35819319   PMID:35844135   PMID:35896951  
PMID:35906200   PMID:35914814   PMID:35944360   PMID:35980206   PMID:36057605   PMID:36168627   PMID:36215168   PMID:36232890   PMID:36273042   PMID:36300783   PMID:36307841   PMID:36321656  
PMID:36373674   PMID:36424410   PMID:36470425   PMID:36484700   PMID:36526897   PMID:36574265   PMID:36580426   PMID:36584595   PMID:36610398   PMID:36688959   PMID:36724073   PMID:36736316  
PMID:36762613   PMID:36779763   PMID:36880596   PMID:36912080   PMID:36949045   PMID:36966971   PMID:37071664   PMID:37371478   PMID:37451480   PMID:38113892   PMID:38117590   PMID:38172120  


Genomics

Comparative Map Data
RPS27A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38255,231,903 - 55,235,853 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl255,231,903 - 55,235,853 (+)EnsemblGRCh38hg38GRCh38
GRCh37255,459,039 - 55,462,989 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36255,313,328 - 55,316,249 (+)NCBINCBI36Build 36hg18NCBI36
Build 34255,371,474 - 55,374,396NCBI
Celera255,299,565 - 55,303,515 (+)NCBICelera
Cytogenetic Map2p16.1NCBI
HuRef255,193,794 - 55,197,744 (+)NCBIHuRef
CHM1_1255,389,096 - 55,393,046 (+)NCBICHM1_1
T2T-CHM13v2.0255,229,133 - 55,233,083 (+)NCBIT2T-CHM13v2.0
Rps27a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391129,495,842 - 29,498,040 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1129,495,846 - 29,498,109 (-)EnsemblGRCm39 Ensembl
GRCm381129,545,842 - 29,548,040 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1129,545,846 - 29,548,109 (-)EnsemblGRCm38mm10GRCm38
MGSCv371129,445,842 - 29,448,040 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361129,445,842 - 29,448,040 (-)NCBIMGSCv36mm8
Celera1131,907,121 - 31,909,319 (-)NCBICelera
Cytogenetic Map11A3.3NCBI
cM Map1116.79NCBI
Rps27a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr814107,486,664 - 107,488,941 (-)NCBIGRCr8
mRatBN7.214103,285,734 - 103,288,011 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5133,180,212 - 133,180,805 (-)EnsemblmRatBN7.2 Ensembl
mRatBN7.2 Ensembl14103,285,734 - 103,288,011 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx14107,625,246 - 107,627,522 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.014108,858,738 - 108,861,015 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.014105,331,167 - 105,333,444 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.014113,966,163 - 113,968,440 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl14113,966,611 - 113,968,268 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl5138,628,482 - 138,629,026 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.014113,632,952 - 113,634,814 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera14102,162,278 - 102,164,555 (-)NCBICelera
Cytogenetic Map14q22NCBI
Rps27a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542427,823,575 - 27,825,489 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542427,823,575 - 27,825,489 (-)NCBIChiLan1.0ChiLan1.0
RPS27A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21271,090,568 - 71,094,414 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A71,094,520 - 71,098,128 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A55,389,243 - 55,392,914 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A56,529,856 - 56,533,527 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A56,530,349 - 56,533,527 (+)Ensemblpanpan1.1panPan2
RPS27A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11056,132,924 - 56,135,327 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1056,132,894 - 56,135,327 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1056,089,650 - 56,092,053 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01057,136,975 - 57,139,378 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1057,136,945 - 57,139,378 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11056,838,149 - 56,840,545 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01057,117,379 - 57,119,782 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01057,407,860 - 57,410,263 (+)NCBIUU_Cfam_GSD_1.0
Rps27a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629226,938,453 - 26,940,987 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364911,630,128 - 1,635,952 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364911,630,172 - 1,632,839 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RPS27A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl385,986,501 - 85,992,503 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1385,989,609 - 85,992,257 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2390,773,810 - 90,776,492 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RPS27A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11451,664,098 - 51,667,138 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1451,664,101 - 51,667,011 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604560,052,453 - 60,055,600 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rps27a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248336,291,446 - 6,311,671 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248336,309,342 - 6,311,762 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RPS27A
15 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1
pathogenic
GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3 copy number gain See cases [RCV000052943] Chr2:40738282..57863821 [GRCh38]
Chr2:40965422..58090956 [GRCh37]
Chr2:40818926..57944460 [NCBI36]
Chr2:2p22.1-16.1
pathogenic
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3 copy number gain See cases [RCV000137586] Chr2:47620388..86702722 [GRCh38]
Chr2:47847527..86929845 [GRCh37]
Chr2:47701031..86783356 [NCBI36]
Chr2:2p16.3-11.2
uncertain significance
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 copy number gain See cases [RCV000454271] Chr2:27861707..60790985 [GRCh37]
Chr2:2p23.3-16.1
pathogenic
GRCh37/hg19 2p16.2-16.1(chr2:54234790-57365499)x3 copy number gain See cases [RCV000446524] Chr2:54234790..57365499 [GRCh37]
Chr2:2p16.2-16.1
uncertain significance
GRCh37/hg19 2p16.2-16.1(chr2:54555290-55741543)x3 copy number gain See cases [RCV000448299] Chr2:54555290..55741543 [GRCh37]
Chr2:2p16.2-16.1
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_002954.6(RPS27A):c.83C>T (p.Ala28Val) single nucleotide variant Inborn genetic diseases [RCV003252423] Chr2:55233397 [GRCh38]
Chr2:55460533 [GRCh37]
Chr2:2p16.1
uncertain significance
GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3 copy number gain not provided [RCV000682169] Chr2:34792916..56676541 [GRCh37]
Chr2:2p22.3-16.1
pathogenic
Single allele deletion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_002954.6(RPS27A):c.322-41G>A single nucleotide variant not provided [RCV001668698] Chr2:55235387 [GRCh38]
Chr2:55462523 [GRCh37]
Chr2:2p16.1
benign
NM_002954.6(RPS27A):c.214A>C (p.Arg72=) single nucleotide variant not provided [RCV001649044] Chr2:55234855 [GRCh38]
Chr2:55461991 [GRCh37]
Chr2:2p16.1
benign
GRCh37/hg19 2p16.1(chr2:55385346-55562517)x3 copy number gain not provided [RCV000848943] Chr2:55385346..55562517 [GRCh37]
Chr2:2p16.1
uncertain significance
GRCh37/hg19 2p16.1(chr2:55378531-55640033)x3 copy number gain not provided [RCV000846175] Chr2:55378531..55640033 [GRCh37]
Chr2:2p16.1
uncertain significance
GRCh37/hg19 2p16.1(chr2:55365531-55475705)x1 copy number loss not provided [RCV001005276] Chr2:55365531..55475705 [GRCh37]
Chr2:2p16.1
likely benign|uncertain significance
NC_000002.11:g.(?_55459961)_(55646215_?)dup duplication not provided [RCV003105493] Chr2:55459961..55646215 [GRCh37]
Chr2:2p16.1
uncertain significance
NC_000002.11:g.(?_55459961)_(55616042_?)dup duplication not provided [RCV003105496] Chr2:55459961..55616042 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_002954.6(RPS27A):c.103+60_103+62del deletion not provided [RCV001663168] Chr2:55233476..55233478 [GRCh38]
Chr2:55460612..55460614 [GRCh37]
Chr2:2p16.1
benign
NM_002954.6(RPS27A):c.103+52A>T single nucleotide variant not provided [RCV001638963] Chr2:55233469 [GRCh38]
Chr2:55460605 [GRCh37]
Chr2:2p16.1
benign
NM_002954.6(RPS27A):c.103+54_103+57del deletion not provided [RCV001616093] Chr2:55233471..55233474 [GRCh38]
Chr2:55460607..55460610 [GRCh37]
Chr2:2p16.1
benign
NM_002954.6(RPS27A):c.190-144T>A single nucleotide variant not provided [RCV001718129] Chr2:55234687 [GRCh38]
Chr2:55461823 [GRCh37]
Chr2:2p16.1
benign
NM_002954.6(RPS27A):c.190-3C>A single nucleotide variant not provided [RCV000890027] Chr2:55234828 [GRCh38]
Chr2:55461964 [GRCh37]
Chr2:2p16.1
benign
GRCh37/hg19 2p16.1(chr2:55393367-55627759)x3 copy number gain not provided [RCV002472882] Chr2:55393367..55627759 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_002954.6(RPS27A):c.322-101A>T single nucleotide variant not provided [RCV001609925] Chr2:55235327 [GRCh38]
Chr2:55462463 [GRCh37]
Chr2:2p16.1
benign
NM_002954.6(RPS27A):c.189+69T>C single nucleotide variant not provided [RCV001641547] Chr2:55234273 [GRCh38]
Chr2:55461409 [GRCh37]
Chr2:2p16.1
benign
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_002954.6(RPS27A):c.104-202A>G single nucleotide variant not provided [RCV001717143] Chr2:55233917 [GRCh38]
Chr2:55461053 [GRCh37]
Chr2:2p16.1
benign
NM_002954.6(RPS27A):c.103+198C>T single nucleotide variant not provided [RCV001654433] Chr2:55233615 [GRCh38]
Chr2:55460751 [GRCh37]
Chr2:2p16.1
benign
NC_000002.11:g.(?_55459961)_(55566804_?)dup duplication not provided [RCV003105494] Chr2:55459961..55566804 [GRCh37]
Chr2:2p16.1
uncertain significance
GRCh37/hg19 2p16.2-16.1(chr2:54555290-55741543) copy number gain not specified [RCV002052748] Chr2:54555290..55741543 [GRCh37]
Chr2:2p16.2-16.1
uncertain significance
GRCh37/hg19 2p16.1(chr2:55365532-55475705)x1 copy number loss not provided [RCV001833047] Chr2:55365532..55475705 [GRCh37]
Chr2:2p16.1
uncertain significance
NC_000002.11:g.(?_54278075)_(55549848_?)dup duplication not provided [RCV003105495] Chr2:54278075..55549848 [GRCh37]
Chr2:2p16.2-16.1
uncertain significance
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13
pathogenic
GRCh37/hg19 2p16.2-16.1(chr2:54780778-55935168)x3 copy number gain not provided [RCV002472401] Chr2:54780778..55935168 [GRCh37]
Chr2:2p16.2-16.1
uncertain significance
NM_002954.6(RPS27A):c.106A>G (p.Ile36Val) single nucleotide variant Inborn genetic diseases [RCV002839690] Chr2:55234121 [GRCh38]
Chr2:55461257 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_002954.6(RPS27A):c.452A>G (p.Asn151Ser) single nucleotide variant Inborn genetic diseases [RCV002822741] Chr2:55235558 [GRCh38]
Chr2:55462694 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_002954.6(RPS27A):c.226G>A (p.Gly76Ser) single nucleotide variant Inborn genetic diseases [RCV002832217] Chr2:55234867 [GRCh38]
Chr2:55462003 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_002954.6(RPS27A):c.109C>A (p.Pro37Thr) single nucleotide variant Inborn genetic diseases [RCV003308674] Chr2:55234124 [GRCh38]
Chr2:55461260 [GRCh37]
Chr2:2p16.1
uncertain significance
NM_002954.6(RPS27A):c.352C>A (p.Arg118Ser) single nucleotide variant not provided [RCV003415581] Chr2:55235458 [GRCh38]
Chr2:55462594 [GRCh37]
Chr2:2p16.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1167
Count of miRNA genes:592
Interacting mature miRNAs:663
Transcripts:ENST00000272317, ENST00000402285, ENST00000404735, ENST00000449323, ENST00000463185, ENST00000468810, ENST00000471772, ENST00000478196, ENST00000494756, ENST00000495843
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
RP_S27A_1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37255,462,069 - 55,462,237UniSTSGRCh37
Build 36255,315,573 - 55,315,741RGDNCBI36
Celera255,302,595 - 55,302,763RGD
Cytogenetic Map2p16UniSTS
HuRef255,196,824 - 55,196,992UniSTS
GeneMap99-GB4 RH Map2174.26UniSTS
Whitehead-RH Map2233.3UniSTS
Whitehead-YAC Contig Map2 UniSTS
D2S2663  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p16UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1343 1237 743 90 623 11 2911 606 753 58 837 937 81 859 1827 2
Medium 1096 1754 983 534 1328 454 1446 1591 2980 361 622 675 94 1 345 961 4 2
Low 1 1 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_017017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_033063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001177413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB007163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB061854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB062071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB362574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY952889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC066293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF678026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM907473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ276758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ421613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK004647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN344335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR746519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA527860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB505702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX757682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M10939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S79522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X63237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000272317   ⟹   ENSP00000272317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl255,232,688 - 55,235,853 (+)Ensembl
RefSeq Acc Id: ENST00000402285   ⟹   ENSP00000383981
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl255,231,903 - 55,235,588 (+)Ensembl
RefSeq Acc Id: ENST00000404735   ⟹   ENSP00000385659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl255,232,678 - 55,235,755 (+)Ensembl
RefSeq Acc Id: ENST00000449323   ⟹   ENSP00000408482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl255,232,432 - 55,234,959 (+)Ensembl
RefSeq Acc Id: ENST00000463185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl255,232,681 - 55,233,369 (+)Ensembl
RefSeq Acc Id: ENST00000468810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl255,233,357 - 55,234,923 (+)Ensembl
RefSeq Acc Id: ENST00000471772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl255,232,688 - 55,233,833 (+)Ensembl
RefSeq Acc Id: ENST00000478196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl255,232,689 - 55,235,184 (+)Ensembl
RefSeq Acc Id: ENST00000494756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl255,232,694 - 55,233,718 (+)Ensembl
RefSeq Acc Id: ENST00000495843
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl255,232,795 - 55,235,609 (+)Ensembl
RefSeq Acc Id: ENST00000639844   ⟹   ENSP00000492819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl255,232,405 - 55,234,301 (+)Ensembl
RefSeq Acc Id: NM_001135592   ⟹   NP_001129064
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38255,231,903 - 55,235,853 (+)NCBI
GRCh37255,459,039 - 55,462,989 (+)ENTREZGENE
HuRef255,193,794 - 55,197,744 (+)ENTREZGENE
CHM1_1255,389,096 - 55,393,046 (+)NCBI
T2T-CHM13v2.0255,229,133 - 55,233,083 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001177413   ⟹   NP_001170884
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38255,232,678 - 55,235,853 (+)NCBI
GRCh37255,459,039 - 55,462,989 (+)ENTREZGENE
HuRef255,193,794 - 55,197,744 (+)ENTREZGENE
CHM1_1255,389,871 - 55,393,046 (+)NCBI
T2T-CHM13v2.0255,229,908 - 55,233,083 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002954   ⟹   NP_002945
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38255,232,688 - 55,235,853 (+)NCBI
GRCh37255,459,039 - 55,462,989 (+)ENTREZGENE
Build 36255,313,328 - 55,316,249 (+)NCBI Archive
HuRef255,193,794 - 55,197,744 (+)ENTREZGENE
CHM1_1255,389,598 - 55,393,046 (+)NCBI
T2T-CHM13v2.0255,229,918 - 55,233,083 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001129064   ⟸   NM_001135592
- Peptide Label: precursor
- UniProtKB: Q9BQ77 (UniProtKB/Swiss-Prot),   P14798 (UniProtKB/Swiss-Prot),   P62979 (UniProtKB/Swiss-Prot),   B2RDW1 (UniProtKB/TrEMBL),   D6W5C9 (UniProtKB/TrEMBL),   Q5RKT7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_002945   ⟸   NM_002954
- Peptide Label: precursor
- UniProtKB: Q9BQ77 (UniProtKB/Swiss-Prot),   P14798 (UniProtKB/Swiss-Prot),   P62979 (UniProtKB/Swiss-Prot),   B2RDW1 (UniProtKB/TrEMBL),   D6W5C9 (UniProtKB/TrEMBL),   Q5RKT7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001170884   ⟸   NM_001177413
- Peptide Label: precursor
- UniProtKB: Q9BQ77 (UniProtKB/Swiss-Prot),   P14798 (UniProtKB/Swiss-Prot),   P62979 (UniProtKB/Swiss-Prot),   B2RDW1 (UniProtKB/TrEMBL),   D6W5C9 (UniProtKB/TrEMBL),   Q5RKT7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000492819   ⟸   ENST00000639844
RefSeq Acc Id: ENSP00000383981   ⟸   ENST00000402285
RefSeq Acc Id: ENSP00000385659   ⟸   ENST00000404735
RefSeq Acc Id: ENSP00000272317   ⟸   ENST00000272317
RefSeq Acc Id: ENSP00000408482   ⟸   ENST00000449323
Protein Domains
Ubiquitin-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P62979-F1-model_v2 AlphaFold P62979 1-156 view protein structure

Promoters
RGD ID:6860356
Promoter ID:EPDNEW_H3343
Type:initiation region
Name:RPS27A_1
Description:ribosomal protein S27a
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3344  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38255,232,688 - 55,232,748EPDNEW
RGD ID:6860358
Promoter ID:EPDNEW_H3344
Type:multiple initiation site
Name:RPS27A_2
Description:ribosomal protein S27a
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3343  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38255,232,808 - 55,232,868EPDNEW
RGD ID:6798107
Promoter ID:HG_KWN:32694
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:NM_001135592,   NM_001177413,   OTTHUMT00000324419,   OTTHUMT00000324420,   OTTHUMT00000324421,   OTTHUMT00000324422,   OTTHUMT00000324423,   OTTHUMT00000326268,   OTTHUMT00000326269,   OTTHUMT00000326270,   OTTHUMT00000326271,   OTTHUMT00000326456,   UC002RYL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36255,312,641 - 55,314,002 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10417 AgrOrtholog
COSMIC RPS27A COSMIC
Ensembl Genes ENSG00000143947 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000272317 ENTREZGENE
  ENST00000272317.11 UniProtKB/Swiss-Prot
  ENST00000402285 ENTREZGENE
  ENST00000402285.7 UniProtKB/Swiss-Prot
  ENST00000404735 ENTREZGENE
  ENST00000404735.1 UniProtKB/Swiss-Prot
  ENST00000449323 UniProtKB/TrEMBL
Gene3D-CATH 6.20.50.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000143947 GTEx
HGNC ID HGNC:10417 ENTREZGENE
Human Proteome Map RPS27A Human Proteome Map
InterPro Ribosomal_S27a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_zn-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  S27a-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin UniProtKB/Swiss-Prot
  Ubiquitin-like_dom UniProtKB/TrEMBL
  Ubiquitin-like_domsf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ubiquitin_dom UniProtKB/Swiss-Prot
  Ubiquitin_dom UniProtKB/TrEMBL
KEGG Report hsa:6233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6233 ENTREZGENE
OMIM 191343 OMIM
PANTHER UBIQUITIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBIQUITIN-40S RIBOSOMAL PROTEIN S27A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBIQUITIN-60S RIBOSOMAL PROTEIN L40 UniProtKB/TrEMBL
Pfam Ribosomal_S27 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ubiquitin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34821 PharmGKB
PRINTS UBIQUITIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE UBIQUITIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBIQUITIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Ribosomal_S27 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBQ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54236 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57829 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RDW1 ENTREZGENE, UniProtKB/TrEMBL
  D6W5C9 ENTREZGENE
  J3QTR3_HUMAN UniProtKB/TrEMBL
  P14798 ENTREZGENE
  P62979 ENTREZGENE
  Q49A90_HUMAN UniProtKB/TrEMBL
  Q5RKT7 ENTREZGENE, UniProtKB/TrEMBL
  Q8WYN9_HUMAN UniProtKB/TrEMBL
  Q9BQ77 ENTREZGENE
  RS27A_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary D6W5C9 UniProtKB/TrEMBL
  P02248 UniProtKB/Swiss-Prot
  P02249 UniProtKB/Swiss-Prot
  P02250 UniProtKB/Swiss-Prot
  P14798 UniProtKB/Swiss-Prot
  P62988 UniProtKB/Swiss-Prot
  Q29120 UniProtKB/Swiss-Prot
  Q6LBL4 UniProtKB/Swiss-Prot
  Q6LDU5 UniProtKB/Swiss-Prot
  Q8WYN8 UniProtKB/Swiss-Prot
  Q91887 UniProtKB/Swiss-Prot
  Q91888 UniProtKB/Swiss-Prot
  Q9BQ77 UniProtKB/Swiss-Prot
  Q9BWD6 UniProtKB/Swiss-Prot
  Q9BX98 UniProtKB/Swiss-Prot
  Q9UEF2 UniProtKB/Swiss-Prot
  Q9UEG1 UniProtKB/Swiss-Prot
  Q9UEK8 UniProtKB/Swiss-Prot
  Q9UPK7 UniProtKB/Swiss-Prot