RPS28 (ribosomal protein S28) - Rat Genome Database

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Gene: RPS28 (ribosomal protein S28) Homo sapiens
Analyze
Symbol: RPS28
Name: ribosomal protein S28
RGD ID: 735338
HGNC Page HGNC:10418
Description: A structural constituent of ribosome. Involved in cytoplasmic translation; rRNA processing; and ribosomal small subunit biogenesis. Located in extracellular exosome. Part of cytosolic small ribosomal subunit and small-subunit processome. Implicated in Diamond-Blackfan anemia 15 with mandibulofacial dysostosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 40S ribosomal protein S28; DBA15; eS28; S28; small ribosomal subunit protein eS28
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: RPS28P1   RPS28P2   RPS28P3   RPS28P4   RPS28P5   RPS28P6   RPS28P7   RPS28P8   RPS28P9  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38198,321,496 - 8,323,340 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl198,321,158 - 8,323,340 (+)EnsemblGRCh38hg38GRCh38
GRCh37198,386,380 - 8,388,224 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36198,292,384 - 8,293,280 (+)NCBINCBI36Build 36hg18NCBI36
Build 34198,292,383 - 8,293,278NCBI
Celera198,242,910 - 8,243,806 (+)NCBICelera
Cytogenetic Map19p13.2NCBI
HuRef198,040,421 - 8,041,317 (+)NCBIHuRef
CHM1_1198,385,886 - 8,386,782 (+)NCBICHM1_1
T2T-CHM13v2.0198,308,015 - 8,309,851 (+)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

Cellular Component

Molecular Function
protein binding  (IPI,ISO)
RNA binding  (HDA)
structural constituent of ribosome  (HDA,IBA,IDA,IEA,IMP)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal heart morphology  (IAGP)
Abnormality of the genitourinary system  (IAGP)
Abnormality of the head  (IAGP)
Abnormality of the thenar eminence  (IAGP)
Abnormality of the upper limb  (IAGP)
Absent thumb  (IAGP)
Acute myeloid leukemia  (IAGP)
Adenocarcinoma of the colon  (IAGP)
Atrial septal defect  (IAGP)
Autism  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bifid uvula  (IAGP)
Broad neck  (IAGP)
Cleft lip  (IAGP)
Cleft palate  (IAGP)
Cleft soft palate  (IAGP)
Coarctation of aorta  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Congenital onset  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental cataract  (IAGP)
Developmental glaucoma  (IAGP)
Downslanted palpebral fissures  (IAGP)
Elevated red cell adenosine deaminase activity  (IAGP)
Epicanthus  (IAGP)
Erythroid hypoplasia  (IAGP)
Feeding difficulties  (IAGP)
Global developmental delay  (IAGP)
Granulocytopenia  (IAGP)
Growth delay  (IAGP)
High palate  (IAGP)
Horseshoe kidney  (IAGP)
Hypertelorism  (IAGP)
Hypospadias  (IAGP)
Increased mean corpuscular volume  (IAGP)
Lethargy  (IAGP)
Leukopenia  (IAGP)
Low anterior hairline  (IAGP)
Low posterior hairline  (IAGP)
Low-set ears  (IAGP)
Macrocytic anemia  (IAGP)
Macrocytic dyserythropoietic anemia  (IAGP)
Malignant genitourinary tract tumor  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microtia  (IAGP)
Midface retrusion  (IAGP)
Mixed hearing impairment  (IAGP)
Myelodysplasia  (IAGP)
Neurodevelopmental delay  (IAGP)
Neutropenia  (IAGP)
Nonimmune hydrops fetalis  (IAGP)
Normochromic anemia  (IAGP)
Osteosarcoma  (IAGP)
Pallor  (IAGP)
Partial duplication of thumb phalanx  (IAGP)
Persistence of hemoglobin F  (IAGP)
Posteriorly rotated ears  (IAGP)
Ptosis  (IAGP)
Pure red cell aplasia  (IAGP)
Radial artery aplasia  (IAGP)
Renal agenesis  (IAGP)
Respiratory distress  (IAGP)
Reticulocytopenia  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Short thumb  (IAGP)
Small for gestational age  (IAGP)
Sparse eyebrow  (IAGP)
Sprengel anomaly  (IAGP)
Stenosis of the external auditory canal  (IAGP)
Strabismus  (IAGP)
Thrombocytopenia  (IAGP)
Thrombocytosis  (IAGP)
Triphalangeal thumb  (IAGP)
Ventricular septal defect  (IAGP)
Webbed neck  (IAGP)
Wide nasal bridge  (IAGP)
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. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8415000   PMID:8706699   PMID:8722009   PMID:9582194   PMID:11875025   PMID:12477932   PMID:12588972   PMID:15189156   PMID:15489334   PMID:15883184   PMID:16169070   PMID:16189514  
PMID:16344560   PMID:16751776   PMID:17353931   PMID:18697920   PMID:19738201   PMID:20301769   PMID:20458337   PMID:21145461   PMID:21319273   PMID:21873635   PMID:21900206   PMID:21988832  
PMID:22623428   PMID:22658674   PMID:22681889   PMID:22863883   PMID:22939629   PMID:23376485   PMID:23402259   PMID:23463506   PMID:24457600   PMID:24942156   PMID:24981860   PMID:25416956  
PMID:25437307   PMID:25900982   PMID:25901680   PMID:25957688   PMID:25963833   PMID:26496610   PMID:26527279   PMID:26725010   PMID:27025967   PMID:27173435   PMID:27684187   PMID:28302793  
PMID:28514442   PMID:28515276   PMID:28977470   PMID:28977666   PMID:29229926   PMID:29507755   PMID:29509190   PMID:29704455   PMID:29721183   PMID:29802200   PMID:29845934   PMID:30021884  
PMID:30033366   PMID:30196744   PMID:30209976   PMID:30344098   PMID:30463901   PMID:30712990   PMID:30804502   PMID:30884312   PMID:31046837   PMID:31048545   PMID:31059266   PMID:31253590  
PMID:31501420   PMID:31527615   PMID:31586073   PMID:31694235   PMID:31822558   PMID:31995728   PMID:32129710   PMID:32296183   PMID:32457219   PMID:32552912   PMID:32665550   PMID:32908313  
PMID:33226137   PMID:33306668   PMID:33545068   PMID:33729478   PMID:33766124   PMID:33916271   PMID:33957083   PMID:33961781   PMID:34133714   PMID:34185411   PMID:34189442   PMID:34349018  
PMID:34373451   PMID:34516797   PMID:34581821   PMID:34870550   PMID:35013218   PMID:35032548   PMID:35235311   PMID:35271311   PMID:35338135   PMID:35446349   PMID:35563538   PMID:35676659  
PMID:35819319   PMID:35831314   PMID:35844135   PMID:35850772   PMID:35915203   PMID:35944360   PMID:36042349   PMID:36057605   PMID:36114006   PMID:36168628   PMID:36180527   PMID:36215168  
PMID:36273042   PMID:36321656   PMID:36373674   PMID:36424410   PMID:36517590   PMID:36537216   PMID:36574265   PMID:36774506   PMID:37071682   PMID:37616343   PMID:37689310   PMID:38113892  


Genomics

Comparative Map Data
RPS28
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38198,321,496 - 8,323,340 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl198,321,158 - 8,323,340 (+)EnsemblGRCh38hg38GRCh38
GRCh37198,386,380 - 8,388,224 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36198,292,384 - 8,293,280 (+)NCBINCBI36Build 36hg18NCBI36
Build 34198,292,383 - 8,293,278NCBI
Celera198,242,910 - 8,243,806 (+)NCBICelera
Cytogenetic Map19p13.2NCBI
HuRef198,040,421 - 8,041,317 (+)NCBIHuRef
CHM1_1198,385,886 - 8,386,782 (+)NCBICHM1_1
T2T-CHM13v2.0198,308,015 - 8,309,851 (+)NCBIT2T-CHM13v2.0
Rps28
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391734,042,010 - 34,043,536 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1734,038,001 - 34,043,536 (-)EnsemblGRCm39 Ensembl
GRCm381733,823,036 - 33,824,562 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1733,819,027 - 33,824,562 (-)EnsemblGRCm38mm10GRCm38
MGSCv371733,959,981 - 33,961,443 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361733,429,010 - 33,430,453 (-)NCBIMGSCv36mm8
Celera1736,580,449 - 36,581,911 (-)NCBICelera
Cytogenetic Map17B1NCBI
cM Map1717.98NCBI
Rps28
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8715,309,964 - 15,311,333 (-)NCBIGRCr8
mRatBN7.2714,607,801 - 14,609,170 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1666,797,875 - 66,808,775 (+)EnsemblmRatBN7.2 Ensembl
mRatBN7.2 Ensembl714,607,801 - 14,609,170 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1672,085,564 - 72,085,888 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0719,481,640 - 19,483,009 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01670,740,007 - 70,740,331 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0718,682,071 - 18,683,440 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl718,682,071 - 18,683,440 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0718,859,671 - 18,861,040 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4716,319,719 - 16,321,088 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1716,319,739 - 16,321,069 (-)NCBI
Celera713,505,200 - 13,506,569 (-)NCBICelera
Cytogenetic Map7q13NCBI
Rps28
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555631,073,774 - 1,074,077 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555631,073,556 - 1,074,149 (-)NCBIChiLan1.0ChiLan1.0
RPS28
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22012,989,047 - 12,990,012 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11912,105,775 - 12,106,687 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0197,607,197 - 7,608,113 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1198,458,321 - 8,459,250 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl198,458,321 - 8,459,250 (+)Ensemblpanpan1.1panPan2
RPS28
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12052,901,953 - 52,903,244 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2052,902,031 - 52,903,244 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2052,703,341 - 52,704,584 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02053,429,906 - 53,431,149 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2053,429,936 - 53,431,149 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12052,632,374 - 52,633,617 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02053,077,846 - 53,079,089 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02053,309,413 - 53,310,656 (+)NCBIUU_Cfam_GSD_1.0
Rps28
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118212,679,261 - 212,680,211 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365885,154,615 - 5,155,522 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365885,154,614 - 5,155,522 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RPS28
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl270,953,708 - 70,954,775 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1270,953,706 - 70,954,862 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2271,320,395 - 71,321,525 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RPS28
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.167,684,720 - 7,685,597 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607412,604,390 - 12,605,303 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rps28
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248281,116,157 - 1,116,686 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248281,116,016 - 1,116,908 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RPS28
23 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:4039158-9176125)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|See cases [RCV000052881] Chr19:4039158..9176125 [GRCh38]
Chr19:4039156..9286801 [GRCh37]
Chr19:3990156..9147801 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
NM_001031.5(RPS28):c.1A>G (p.Met1Val) single nucleotide variant Diamond-Blackfan anemia 15 with mandibulofacial dysostosis [RCV000167573] Chr19:8321531 [GRCh38]
Chr19:8386415 [GRCh37]
Chr19:19p13.2
pathogenic|not provided
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3 copy number gain not provided [RCV000684096] Chr19:3120160..9732820 [GRCh37]
Chr19:19p13.3-13.2
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
Single allele duplication Autism [RCV000754212] Chr19:7981357..10019383 [GRCh38]
Chr19:19p13.2
likely pathogenic
NM_001031.5(RPS28):c.*16+23T>C single nucleotide variant Diamond-Blackfan anemia 15 with mandibulofacial dysostosis [RCV001796637]|not provided [RCV001648872] Chr19:8322114 [GRCh38]
Chr19:8386998 [GRCh37]
Chr19:19p13.2
benign
NM_001031.5(RPS28):c.87+6C>T single nucleotide variant not provided [RCV000827448] Chr19:8321709 [GRCh38]
Chr19:8386593 [GRCh37]
Chr19:19p13.2
likely benign
NM_001031.5(RPS28):c.87+75T>C single nucleotide variant not provided [RCV001685701] Chr19:8321778 [GRCh38]
Chr19:8386662 [GRCh37]
Chr19:19p13.2
benign
NM_005001.5(NDUFA7):c.51+136C>G single nucleotide variant not provided [RCV001596839] Chr19:8321172 [GRCh38]
Chr19:8386056 [GRCh37]
Chr19:19p13.2
benign
NM_005001.5(NDUFA7):c.51+133A>C single nucleotide variant not provided [RCV001677821] Chr19:8321175 [GRCh38]
Chr19:8386059 [GRCh37]
Chr19:19p13.2
benign
NC_000019.10:g.8321422G>A single nucleotide variant not provided [RCV001687637] Chr19:8321422 [GRCh38]
Chr19:8386306 [GRCh37]
Chr19:19p13.2
benign
NM_001031.5(RPS28):c.*68G>A single nucleotide variant not provided [RCV001661230] Chr19:8322323 [GRCh38]
Chr19:8387207 [GRCh37]
Chr19:19p13.2
benign
NC_000019.10:g.8321483C>T single nucleotide variant not provided [RCV001668848] Chr19:8321483 [GRCh38]
Chr19:8386367 [GRCh37]
Chr19:19p13.2
benign
GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3 copy number gain not provided [RCV001007030] Chr19:7657490..8569762 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001031.5(RPS28):c.87+114G>A single nucleotide variant not provided [RCV001538456] Chr19:8321817 [GRCh38]
Chr19:8386701 [GRCh37]
Chr19:19p13.2
benign
NC_000019.9:g.(?_7586521)_(8670595_?)dup duplication Mucolipidosis type IV [RCV003109714] Chr19:7586521..8670595 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001031.5(RPS28):c.12C>T (p.Ser4=) single nucleotide variant not provided [RCV002871315] Chr19:8321542 [GRCh38]
Chr19:8386426 [GRCh37]
Chr19:19p13.2
likely benign
NM_001031.5(RPS28):c.39+20T>G single nucleotide variant not provided [RCV002735791] Chr19:8321589 [GRCh38]
Chr19:8386473 [GRCh37]
Chr19:19p13.2
benign
NM_198471.3(KANK3):c.2386G>A (p.Glu796Lys) single nucleotide variant not specified [RCV004181507] Chr19:8322919 [GRCh38]
Chr19:8387803 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001031.5(RPS28):c.40-7C>T single nucleotide variant not provided [RCV003090771] Chr19:8321649 [GRCh38]
Chr19:8386533 [GRCh37]
Chr19:19p13.2
likely benign
NM_001031.5(RPS28):c.6C>T (p.Asp2=) single nucleotide variant not provided [RCV002938410] Chr19:8321536 [GRCh38]
Chr19:8386420 [GRCh37]
Chr19:19p13.2
likely benign
NM_001031.5(RPS28):c.204G>A (p.Leu68=) single nucleotide variant not provided [RCV002607636] Chr19:8322069 [GRCh38]
Chr19:8386953 [GRCh37]
Chr19:19p13.2
likely benign
NM_001031.5(RPS28):c.202T>C (p.Leu68=) single nucleotide variant not provided [RCV003406825] Chr19:8322067 [GRCh38]
Chr19:8386951 [GRCh37]
Chr19:19p13.2
likely benign
NM_001031.5(RPS28):c.7A>G (p.Thr3Ala) single nucleotide variant not provided [RCV003740317] Chr19:8321537 [GRCh38]
Chr19:8386421 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001031.5(RPS28):c.15T>C (p.Arg5=) single nucleotide variant not provided [RCV003579102] Chr19:8321545 [GRCh38]
Chr19:8386429 [GRCh37]
Chr19:19p13.2
likely benign
NM_001031.5(RPS28):c.51C>T (p.Val17=) single nucleotide variant not provided [RCV003687327] Chr19:8321667 [GRCh38]
Chr19:8386551 [GRCh37]
Chr19:19p13.2
likely benign
NM_001031.5(RPS28):c.33G>A (p.Leu11=) single nucleotide variant not provided [RCV003572145] Chr19:8321563 [GRCh38]
Chr19:8386447 [GRCh37]
Chr19:19p13.2
likely benign
NM_001031.5(RPS28):c.114G>T (p.Thr38=) single nucleotide variant RPS28-related disorder [RCV003901240]|not provided [RCV003670280] Chr19:8321979 [GRCh38]
Chr19:8386863 [GRCh37]
Chr19:19p13.2
likely benign
NM_001031.5(RPS28):c.40-14C>T single nucleotide variant not provided [RCV003703025] Chr19:8321642 [GRCh38]
Chr19:8386526 [GRCh37]
Chr19:19p13.2
likely benign
NM_001031.5(RPS28):c.39+20T>C single nucleotide variant not provided [RCV003675677] Chr19:8321589 [GRCh38]
Chr19:8386473 [GRCh37]
Chr19:19p13.2
likely benign
NM_001031.5(RPS28):c.147C>G (p.Pro49=) single nucleotide variant not provided [RCV003733247] Chr19:8322012 [GRCh38]
Chr19:8386896 [GRCh37]
Chr19:19p13.2
likely benign
NM_001031.5(RPS28):c.157G>A (p.Gly53Ser) single nucleotide variant not provided [RCV003708279] Chr19:8322022 [GRCh38]
Chr19:8386906 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_001031.5(RPS28):c.87+7G>T single nucleotide variant not provided [RCV003731055] Chr19:8321710 [GRCh38]
Chr19:8386594 [GRCh37]
Chr19:19p13.2
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1075
Count of miRNA genes:648
Interacting mature miRNAs:723
Transcripts:ENST00000417088, ENST00000449223, ENST00000600659, ENST00000602140
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RP_S28_1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37198,386,999 - 8,387,139UniSTSGRCh37
Build 36198,292,999 - 8,293,139RGDNCBI36
Celera198,243,525 - 8,243,665RGD
Cytogenetic Map19p13.2UniSTS
HuRef198,041,036 - 8,041,176UniSTS
GeneMap99-GB4 RH Map1953.99UniSTS
Whitehead-RH Map1938.8UniSTS
WI-17737  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37198,387,491 - 8,387,596UniSTSGRCh37
Build 36198,293,491 - 8,293,596RGDNCBI36
Celera198,244,017 - 8,244,122RGD
Cytogenetic Map19p13.2UniSTS
HuRef198,041,528 - 8,041,633UniSTS
GeneMap99-GB4 RH Map1952.59UniSTS
Whitehead-RH Map1937.5UniSTS
D19S1020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37198,386,908 - 8,387,249UniSTSGRCh37
GRCh371182,400,759 - 82,400,920UniSTSGRCh37
Build 361182,078,407 - 82,078,568RGDNCBI36
Celera198,243,434 - 8,243,775UniSTS
Celera1179,710,610 - 79,710,771RGD
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map11q14.1UniSTS
HuRef198,040,945 - 8,041,286UniSTS
HuRef1178,698,040 - 78,698,201UniSTS
RH78597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37198,387,580 - 8,387,739UniSTSGRCh37
Build 36198,293,580 - 8,293,739RGDNCBI36
Celera198,244,106 - 8,244,265RGD
Cytogenetic Map19p13.2UniSTS
HuRef198,041,617 - 8,041,776UniSTS
GeneMap99-GB4 RH Map1952.59UniSTS
RH79980  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19p13.2UniSTS


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 39 30 70 2 141 2 636 5 7 6 303 87 51 321
Medium 2393 2954 1653 620 1807 462 3719 2188 3701 412 1145 1521 171 1153 2467 4
Low 6 7 3 2 3 1 2 4 26 1 11 5 4 1 2 2
Below cutoff 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_050637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047439201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054321703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB007164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB055779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB061846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU126783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ586798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB342959 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB711082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L05091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U58682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000417088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl198,321,634 - 8,322,396 (+)Ensembl
RefSeq Acc Id: ENST00000449223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl198,321,158 - 8,322,946 (+)Ensembl
RefSeq Acc Id: ENST00000600659   ⟹   ENSP00000472469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl198,321,496 - 8,323,340 (+)Ensembl
RefSeq Acc Id: ENST00000602140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl198,321,495 - 8,322,492 (+)Ensembl
RefSeq Acc Id: NM_001031   ⟹   NP_001022
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38198,321,496 - 8,323,340 (+)NCBI
GRCh37198,386,384 - 8,387,280 (+)RGD
Build 36198,292,384 - 8,293,280 (+)NCBI Archive
Celera198,242,910 - 8,243,806 (+)RGD
HuRef198,040,421 - 8,041,317 (+)ENTREZGENE
CHM1_1198,385,886 - 8,386,782 (+)NCBI
T2T-CHM13v2.0198,308,015 - 8,309,851 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047439201   ⟹   XP_047295157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38198,321,496 - 8,322,097 (+)NCBI
RefSeq Acc Id: XM_054321703   ⟹   XP_054177678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0198,308,015 - 8,308,616 (+)NCBI
RefSeq Acc Id: NP_001022   ⟸   NM_001031
- UniProtKB: P25112 (UniProtKB/Swiss-Prot),   P62857 (UniProtKB/Swiss-Prot),   B2R4R9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000472469   ⟸   ENST00000600659
RefSeq Acc Id: XP_047295157   ⟸   XM_047439201
- Peptide Label: isoform X1
- UniProtKB: P62857 (UniProtKB/Swiss-Prot),   P25112 (UniProtKB/Swiss-Prot),   B2R4R9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054177678   ⟸   XM_054321703
- Peptide Label: isoform X1
- UniProtKB: P25112 (UniProtKB/Swiss-Prot),   P62857 (UniProtKB/Swiss-Prot),   B2R4R9 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P62857-F1-model_v2 AlphaFold P62857 1-69 view protein structure

Promoters
RGD ID:6796009
Promoter ID:HG_KWN:28759
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_001031,   NM_005001
Position:
Human AssemblyChrPosition (strand)Source
Build 36198,291,661 - 8,292,412 (+)MPROMDB
RGD ID:6852084
Promoter ID:EP73848
Type:multiple initiation site
Name:HS_RPS28
Description:Ribosomal protein S28.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36198,292,384 - 8,292,444EPD
RGD ID:7238353
Promoter ID:EPDNEW_H24922
Type:initiation region
Name:RPS28_1
Description:ribosomal protein S28
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38198,321,500 - 8,321,560EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10418 AgrOrtholog
COSMIC RPS28 COSMIC
Ensembl Genes ENSG00000233927 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000600659 ENTREZGENE
  ENST00000600659.3 UniProtKB/Swiss-Prot
Gene3D-CATH 2.40.50.140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000233927 GTEx
HGNC ID HGNC:10418 ENTREZGENE
Human Proteome Map RPS28 Human Proteome Map
InterPro NA-bd_OB-fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S28e UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S28e_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6234 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6234 ENTREZGENE
OMIM 603685 OMIM
PANTHER 40S RIBOSOMAL PROTEIN S28 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10769 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ribosomal_S28e UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34825 PharmGKB
PROSITE RIBOSOMAL_S28E UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50249 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R4R9 ENTREZGENE, UniProtKB/TrEMBL
  P25112 ENTREZGENE
  P62857 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary P25112 UniProtKB/Swiss-Prot