RPS19 (ribosomal protein S19) - Rat Genome Database

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Gene: RPS19 (ribosomal protein S19) Homo sapiens
Analyze
Symbol: RPS19
Name: ribosomal protein S19
RGD ID: 68661
HGNC Page HGNC
Description: Exhibits fibroblast growth factor binding activity; identical protein binding activity; and protein kinase binding activity. A structural constituent of ribosome. Involved in several processes, including monocyte chemotaxis; regulation of respiratory burst involved in inflammatory response; and ribosomal small subunit biogenesis. Localizes to cytosolic small ribosomal subunit; nuclear lumen; and postsynaptic density. Implicated in Diamond-Blackfan anemia and Diamond-Blackfan anemia 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 40S ribosomal protein S19; DBA; DBA1; eS19; LOH19CR1; loss of heterozygosity on chromosome 19, region 1; loss of heterozygosity, 19, chromosomal region 1; S19; small ribosomal subunit protein eS19
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: RPS19P1   RPS19P2   RPS19P3   RPS19P4   RPS19P5   RPS19P6   RPS19P7  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1941,860,255 - 41,872,925 (+)EnsemblGRCh38hg38GRCh38
GRCh381941,860,255 - 41,872,925 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371942,364,325 - 42,376,993 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361947,055,828 - 47,067,324 (+)NCBINCBI36hg18NCBI36
Build 341947,055,827 - 47,067,322NCBI
Celera1939,163,675 - 39,175,171 (+)NCBI
Cytogenetic Map19q13.2NCBI
HuRef1938,795,270 - 38,806,767 (+)NCBIHuRef
CHM1_11942,365,453 - 42,376,951 (+)NCBICHM1_1
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-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-nitrofluorene  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetylsalicylic acid  (EXP)
aflatoxin B1  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
benzbromarone  (ISO)
benzo[a]pyrene  (ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bortezomib  (EXP)
cadmium dichloride  (EXP)
caffeine  (EXP)
calcitriol  (EXP)
carbon nanotube  (EXP)
chloropicrin  (EXP)
chromium(6+)  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
diethylstilbestrol  (EXP,ISO)
dihydroartemisinin  (EXP)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fenbuconazole  (EXP)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (ISO)
furan  (ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
glafenine  (ISO)
L-ethionine  (ISO)
lead diacetate  (ISO)
melatonin  (ISO)
methapyrilene  (EXP,ISO)
methotrexate  (ISO)
methoxychlor  (ISO)
N-nitrosodimethylamine  (ISO)
nimesulide  (ISO)
nitrofen  (ISO)
omeprazole  (ISO)
ozone  (ISO)
paracetamol  (ISO)
perfluorooctanoic acid  (EXP,ISO)
PhIP  (ISO)
piperonyl butoxide  (ISO)
pirinixic acid  (ISO)
resveratrol  (ISO)
rotenone  (ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (ISO)
vitamin E  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Human Phenotype
11 pairs of ribs  (IAGP)
Abnormality of the thenar eminence  (IAGP)
Absent thumb  (IAGP)
Acute myeloid leukemia  (IAGP)
Adenocarcinoma of the colon  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bifid thoracic vertebrae  (IAGP)
Cleft lip  (IAGP)
Cleft palate  (IAGP)
Cleft soft palate  (IAGP)
Cleft upper lip  (IAGP)
Coarctation of aorta  (IAGP)
Colon cancer  (IAGP)
Congenital hypoplastic anemia  (IAGP)
Congestive heart failure  (IAGP)
Delayed cranial suture closure  (IAGP)
Depressed nasal bridge  (IAGP)
Depressed nasal ridge  (IAGP)
Developmental cataract  (IAGP)
Developmental glaucoma  (IAGP)
Downslanted palpebral fissures  (IAGP)
Elevated red cell adenosine deaminase level  (IAGP)
Epicanthus  (IAGP)
Erythroid hypoplasia  (IAGP)
Failure to thrive  (IAGP)
High palate  (IAGP)
Horseshoe kidney  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the radius  (IAGP)
Hypoplastic coccygeal vertebrae  (IAGP)
Hypoplastic ilia  (IAGP)
Hypoplastic sacral vertebrae  (IAGP)
Hypospadias  (IAGP)
Increased mean corpuscular volume  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Lethargy  (IAGP)
Leukopenia  (IAGP)
Low anterior hairline  (IAGP)
Low-set ears  (IAGP)
Macrocytic dyserythropoietic anemia  (IAGP)
Malignant genitourinary tract tumor  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Microtia  (IAGP)
Myelodysplasia  (IAGP)
Narrow chest  (IAGP)
Neurodevelopmental delay  (IAGP)
Neutropenia  (IAGP)
Nonimmune hydrops fetalis  (IAGP)
Normochromic anemia  (IAGP)
Osteosarcoma  (IAGP)
Pallor  (IAGP)
Parietal foramina  (IAGP)
Partial duplication of thumb phalanx  (IAGP)
Persistence of hemoglobin F  (IAGP)
Premature birth  (IAGP)
Primary congenital glaucoma  (IAGP)
Ptosis  (IAGP)
Pure red cell aplasia  (IAGP)
Radial artery aplasia  (IAGP)
Renal agenesis  (IAGP)
Renal hypoplasia  (IAGP)
Reticulocytopenia  (IAGP)
Retrognathia  (IAGP)
Schizophrenia  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Short thumb  (IAGP)
Small for gestational age  (IAGP)
Sprengel anomaly  (IAGP)
Strabismus  (IAGP)
Thrombocytopenia  (IAGP)
Thrombocytosis  (IAGP)
Tricuspid stenosis  (IAGP)
Triphalangeal thumb  (IAGP)
Ventricular septal defect  (IAGP)
Webbed neck  (IAGP)
Wide nasal bridge  (IAGP)
References

Additional References at PubMed
PMID:1339304   PMID:6188845   PMID:7821789   PMID:8706699   PMID:8722009   PMID:8889549   PMID:9241274   PMID:9582194   PMID:10590074   PMID:10598818   PMID:10662814   PMID:11112378  
PMID:11226885   PMID:11716516   PMID:11733378   PMID:11942409   PMID:12477932   PMID:12586610   PMID:12588972   PMID:12651630   PMID:12750732   PMID:15019208   PMID:15047060   PMID:15059149  
PMID:15075082   PMID:15189156   PMID:15330156   PMID:15342556   PMID:15384984   PMID:15489334   PMID:15626736   PMID:15635413   PMID:15750715   PMID:15755903   PMID:15883184   PMID:16159874  
PMID:16159877   PMID:16266891   PMID:16289379   PMID:16712791   PMID:16990592   PMID:17053056   PMID:17082006   PMID:17107358   PMID:17178250   PMID:17199736   PMID:17267499   PMID:17353931  
PMID:17356406   PMID:17361185   PMID:17517689   PMID:17620599   PMID:17962699   PMID:18412286   PMID:18697920   PMID:18768533   PMID:19155217   PMID:19338310   PMID:19380743   PMID:19454283  
PMID:19587786   PMID:19689926   PMID:19738201   PMID:19773279   PMID:19913121   PMID:19946888   PMID:20054847   PMID:20093496   PMID:20301769   PMID:20378560   PMID:20395159   PMID:20458337  
PMID:20473571   PMID:20568250   PMID:20606162   PMID:20628086   PMID:20639905   PMID:20811636   PMID:20960466   PMID:21068437   PMID:21081503   PMID:21145461   PMID:21151833   PMID:21170055  
PMID:21244100   PMID:21280222   PMID:21296889   PMID:21306436   PMID:21319273   PMID:21412415   PMID:21423176   PMID:21613290   PMID:21832049   PMID:21873635   PMID:21988832   PMID:22045982  
PMID:22145905   PMID:22262766   PMID:22496757   PMID:22586326   PMID:22623428   PMID:22681889   PMID:22689679   PMID:22833095   PMID:22863883   PMID:22939629   PMID:22944692   PMID:23184937  
PMID:23246001   PMID:23376485   PMID:23398456   PMID:23443559   PMID:23455922   PMID:23463506   PMID:23826176   PMID:23979707   PMID:24104479   PMID:24113185   PMID:24244333   PMID:24457600  
PMID:24463277   PMID:24711643   PMID:24875531   PMID:24965446   PMID:24980433   PMID:24999758   PMID:25062117   PMID:25069755   PMID:25132370   PMID:25144556   PMID:25147182   PMID:25216681  
PMID:25270909   PMID:25324306   PMID:25437307   PMID:25963833   PMID:26058344   PMID:26170170   PMID:26209609   PMID:26217791   PMID:26344197   PMID:26381412   PMID:26446488   PMID:26496610  
PMID:26831064   PMID:26979993   PMID:27025967   PMID:27082860   PMID:27129302   PMID:27173435   PMID:27453043   PMID:27545878   PMID:27591049   PMID:27609421   PMID:27684187   PMID:27734913  
PMID:27976729   PMID:28228558   PMID:28302793   PMID:28376382   PMID:28416769   PMID:28514442   PMID:28515276   PMID:28712289   PMID:28927264   PMID:28977666   PMID:29016636   PMID:29044489  
PMID:29053956   PMID:29117863   PMID:29228324   PMID:29229926   PMID:29298432   PMID:29449217   PMID:29467282   PMID:29507755   PMID:29511261   PMID:29676528   PMID:29721183   PMID:29777862  
PMID:29802200   PMID:29844126   PMID:29845934   PMID:29859926   PMID:30021884   PMID:30077612   PMID:30209976   PMID:30258100   PMID:30320910   PMID:30344098   PMID:30415952   PMID:30455355  
PMID:30804502   PMID:30948266   PMID:30997501   PMID:31046837   PMID:31048545   PMID:31059266   PMID:31091453   PMID:31180492   PMID:31239290   PMID:31253590   PMID:31501420   PMID:31586073  
PMID:32041737   PMID:32129710   PMID:32296183   PMID:32788342   PMID:32814053  


Genomics

Comparative Map Data
RPS19
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1941,860,255 - 41,872,925 (+)EnsemblGRCh38hg38GRCh38
GRCh381941,860,255 - 41,872,925 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371942,364,325 - 42,376,993 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361947,055,828 - 47,067,324 (+)NCBINCBI36hg18NCBI36
Build 341947,055,827 - 47,067,322NCBI
Celera1939,163,675 - 39,175,171 (+)NCBI
Cytogenetic Map19q13.2NCBI
HuRef1938,795,270 - 38,806,767 (+)NCBIHuRef
CHM1_11942,365,453 - 42,376,951 (+)NCBICHM1_1
Rps19
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39724,584,017 - 24,589,236 (+)NCBIGRCm39mm39
GRCm39 Ensembl724,583,796 - 24,589,231 (+)Ensembl
GRCm38724,884,592 - 24,889,811 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl724,884,371 - 24,889,806 (+)EnsemblGRCm38mm10GRCm38
MGSCv37725,669,733 - 25,674,821 (+)NCBIGRCm37mm9NCBIm37
MGSCv36724,593,474 - 24,598,562 (+)NCBImm8
Celera719,500,610 - 19,505,697 (+)NCBICelera
Cytogenetic Map7A3NCBI
Rps19
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0 Ensembl181,750,928 - 81,756,627 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0181,750,873 - 81,756,629 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Celera174,928,305 - 74,934,062 (+)NCBICelera
Cytogenetic Map1q21NCBI
Rps19
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955555969,340 - 976,509 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955555969,345 - 976,122 (-)NCBIChiLan1.0ChiLan1.0
RPS19
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11947,254,157 - 47,264,953 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1947,254,157 - 47,264,953 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01938,748,604 - 38,760,055 (+)NCBIMhudiblu_PPA_v0panPan3
RPS19
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11112,418,800 - 112,427,445 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1112,411,281 - 112,427,381 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1111,855,118 - 111,863,708 (-)NCBI
ROS_Cfam_1.01113,042,734 - 113,051,324 (-)NCBI
UMICH_Zoey_3.11112,596,102 - 112,604,692 (-)NCBI
UNSW_CanFamBas_1.01112,232,253 - 112,240,642 (-)NCBI
UU_Cfam_GSD_1.01113,158,731 - 113,167,322 (-)NCBI
Rps19
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934916,221,100 - 16,228,630 (-)NCBI
SpeTri2.0NW_004936706568,443 - 575,973 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RPS19
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl650,000,219 - 50,009,592 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1650,003,198 - 50,010,135 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2646,056,524 - 46,063,482 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RPS19
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1636,067,959 - 36,085,581 (+)NCBI
Rps19
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624907811,069 - 818,218 (-)NCBI

Position Markers
RP_S19_1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371942,373,633 - 42,373,823UniSTSGRCh37
Build 361947,065,473 - 47,065,663RGDNCBI36
Celera1939,173,320 - 39,173,510RGD
Cytogenetic Map19q13.2UniSTS
HuRef1938,804,915 - 38,805,105UniSTS
GeneMap99-GB4 RH Map19242.82UniSTS
Whitehead-RH Map19318.9UniSTS
NCBI RH Map19392.2UniSTS
RH79941  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2832
Count of miRNA genes:945
Interacting mature miRNAs:1156
Transcripts:ENST00000221975, ENST00000593863, ENST00000598261, ENST00000598399, ENST00000598466, ENST00000598742, ENST00000600467, ENST00000601492
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.


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 34 11 9 440 9 54 7 8 22 163 35 1 26 1
Medium 2398 2985 1712 613 1510 455 4301 2187 3700 396 1285 1573 171 1203 2762 3
Low 7 6 3 2 1 1 1 3 26 1 12 5 4 1 2 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA165492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB007155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC243967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG398397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM468237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP270469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU603942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB124389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB125125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS401981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D28389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU326300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M81757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000221975   ⟹   ENSP00000221975
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,860,257 - 41,871,416 (+)Ensembl
RefSeq Acc Id: ENST00000593863   ⟹   ENSP00000470004
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,860,446 - 41,871,416 (+)Ensembl
RefSeq Acc Id: ENST00000598261   ⟹   ENSP00000469798
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,860,278 - 41,869,146 (+)Ensembl
RefSeq Acc Id: ENST00000598399   ⟹   ENSP00000472660
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,860,778 - 41,869,192 (+)Ensembl
RefSeq Acc Id: ENST00000598466
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,860,255 - 41,861,606 (+)Ensembl
RefSeq Acc Id: ENST00000598742   ⟹   ENSP00000470972
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,860,255 - 41,872,925 (+)Ensembl
RefSeq Acc Id: ENST00000600467   ⟹   ENSP00000469228
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,860,255 - 41,871,416 (+)Ensembl
RefSeq Acc Id: ENST00000601492   ⟹   ENSP00000471621
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1941,860,255 - 41,869,084 (+)Ensembl
RefSeq Acc Id: NM_001022   ⟹   NP_001013
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381941,860,255 - 41,872,925 (+)NCBI
GRCh371942,363,988 - 42,375,484 (+)ENTREZGENE
GRCh371942,363,988 - 42,375,484 (+)NCBI
Build 361947,055,828 - 47,067,324 (+)NCBI Archive
HuRef1938,795,270 - 38,806,767 (+)ENTREZGENE
CHM1_11942,365,453 - 42,376,951 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321483   ⟹   NP_001308412
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381941,860,404 - 41,872,925 (+)NCBI
CHM1_11942,365,981 - 42,376,951 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321484   ⟹   NP_001308413
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381941,860,255 - 41,872,925 (+)NCBI
CHM1_11942,365,802 - 42,376,951 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001321485   ⟹   NP_001308414
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381941,860,255 - 41,872,925 (+)NCBI
CHM1_11942,365,453 - 42,376,951 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027113   ⟹   XP_016882602
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381941,860,257 - 41,870,240 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001013   ⟸   NM_001022
- Peptide Label: isoform 1
- UniProtKB: P39019 (UniProtKB/Swiss-Prot),   B0ZBD0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308414   ⟸   NM_001321485
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001308413   ⟸   NM_001321484
- Peptide Label: isoform 1
- UniProtKB: P39019 (UniProtKB/Swiss-Prot),   B0ZBD0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308412   ⟸   NM_001321483
- Peptide Label: isoform 1
- UniProtKB: P39019 (UniProtKB/Swiss-Prot),   B0ZBD0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016882602   ⟸   XM_017027113
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000469798   ⟸   ENST00000598261
RefSeq Acc Id: ENSP00000470972   ⟸   ENST00000598742
RefSeq Acc Id: ENSP00000472660   ⟸   ENST00000598399
RefSeq Acc Id: ENSP00000469228   ⟸   ENST00000600467
RefSeq Acc Id: ENSP00000471621   ⟸   ENST00000601492
RefSeq Acc Id: ENSP00000221975   ⟸   ENST00000221975
RefSeq Acc Id: ENSP00000470004   ⟸   ENST00000593863

Promoters
RGD ID:7240123
Promoter ID:EPDNEW_H25806
Type:initiation region
Name:RPS19_1
Description:ribosomal protein S19
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
GRCh381941,860,255 - 41,860,315EPDNEW
RGD ID:6796000
Promoter ID:HG_KWN:30049
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_001022
Position:
Human AssemblyChrPosition (strand)Source
Build 361947,055,531 - 47,056,247 (+)MPROMDB
RGD ID:6849450
Promoter ID:EP68002
Type:multiple initiation site
Name:HS_RPS19
Description:Ribosomal protein S19.
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; Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361947,056,165 - 47,056,225EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001022.4(RPS19):c.280C>T (p.Arg94Ter) single nucleotide variant Diamond-Blackfan anemia 1 [RCV000033182]|not provided [RCV000272977] Chr19:41869138 [GRCh38]
Chr19:42373208 [GRCh37]
Chr19:19q13.2
pathogenic
NM_001022.4(RPS19):c.184C>T (p.Arg62Trp) single nucleotide variant Diamond-Blackfan anemia 1 [RCV000033183]|Diamond-Blackfan anemia [RCV001065746]|not provided [RCV000497714] Chr19:41869042 [GRCh38]
Chr19:42373112 [GRCh37]
Chr19:19q13.2
pathogenic
NM_001022.4(RPS19):c.98G>A (p.Trp33Ter) single nucleotide variant Diamond-Blackfan anemia 1 [RCV000033184]|Diamond-Blackfan anemia [RCV001237459] Chr19:41861138 [GRCh38]
Chr19:42365207 [GRCh37]
Chr19:19q13.2
pathogenic
NM_001022.4(RPS19):c.250A>T (p.Arg84Ter) single nucleotide variant Diamond-Blackfan anemia 1 [RCV000033185] Chr19:41869108 [GRCh38]
Chr19:42373178 [GRCh37]
Chr19:19q13.2
pathogenic
NM_001022.4(RPS19):c.307del (p.Val103fs) deletion Diamond-Blackfan anemia 1 [RCV000033186] Chr19:41869163 [GRCh38]
Chr19:42373233 [GRCh37]
Chr19:19q13.2
pathogenic
L45Q insertion Diamond-Blackfan anemia 1 [RCV000033187] Chr19:19q13.2 pathogenic
NM_001022.4(RPS19):c.380G>A (p.Gly127Glu) single nucleotide variant Diamond-Blackfan anemia 1 [RCV000033189] Chr19:41869722 [GRCh38]
Chr19:42373792 [GRCh37]
Chr19:19q13.2
pathogenic
NM_001022.4(RPS19):c.208G>A (p.Ala70Thr) single nucleotide variant not provided [RCV000519101] Chr19:41869066 [GRCh38]
Chr19:42373136 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001022.4(RPS19):c.294_295TG[3] (p.Ala100fs) microsatellite Diamond-Blackfan anemia [RCV000553313] Chr19:41869150..41869151 [GRCh38]
Chr19:42373220..42373221 [GRCh37]
Chr19:19q13.2
pathogenic
NM_001022.4(RPS19):c.75C>T (p.Ser25=) single nucleotide variant Diamond-Blackfan anemia [RCV000541747] Chr19:41861115 [GRCh38]
Chr19:42365184 [GRCh37]
Chr19:19q13.2
likely benign
nsv1197578 deletion Diamond-Blackfan anemia 1 [RCV000074476] Chr19:42364612..42369681 [GRCh37]
Chr19:47056452..47061521 [NCBI36]
Chr19:19q13.2
pathogenic
GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3 copy number gain See cases [RCV000050636] Chr19:37319377..42738688 [GRCh38]
Chr19:37810279..43242840 [GRCh37]
Chr19:42502119..47934680 [NCBI36]
Chr19:19q13.12-13.2
pathogenic
NM_001022.4(RPS19):c.356+14= single nucleotide variant Diamond-Blackfan anemia 1 [RCV000380575]|not specified [RCV000455504] Chr19:41869228 [GRCh38]
Chr19:42373298 [GRCh37]
Chr19:19q13.2
benign
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
GRCh38/hg38 19q13.2(chr19:41866470-41874552)x3 copy number gain See cases [RCV000143322] Chr19:41866470..41874552 [GRCh38]
Chr19:42370540..42378620 [GRCh37]
Chr19:47062380..47070460 [NCBI36]
Chr19:19q13.2
uncertain significance
NM_001022.4(RPS19):c.411+12G>A single nucleotide variant Diamond-Blackfan anemia 1 [RCV000269586]|not specified [RCV000194512] Chr19:41869765 [GRCh38]
Chr19:42373835 [GRCh37]
Chr19:19q13.2
benign|likely benign
NM_001022.4(RPS19):c.72-92A>G single nucleotide variant Diamond-Blackfan anemia [RCV000226958] Chr19:41861020 [GRCh38]
Chr19:42365089 [GRCh37]
Chr19:19q13.2
likely benign
NM_001022.4(RPS19):c.356+18G>C single nucleotide variant Diamond-Blackfan anemia 1 [RCV001258318]|Diamond-Blackfan anemia [RCV000234245]|not provided [RCV000996932] Chr19:41869232 [GRCh38]
Chr19:42373302 [GRCh37]
Chr19:19q13.2
benign|likely benign
NM_001022.4(RPS19):c.60C>G (p.Ala20=) single nucleotide variant Diamond-Blackfan anemia 1 [RCV001094591]|Diamond-Blackfan anemia [RCV000300957] Chr19:41860834 [GRCh38]
Chr19:42364904 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_001022.4(RPS19):c.1-9C>A single nucleotide variant Diamond-Blackfan anemia 1 [RCV000262205] Chr19:41860766 [GRCh38]
Chr19:42364836 [GRCh37]
Chr19:19q13.2
likely benign|uncertain significance
NM_001022.4(RPS19):c.1-14A>G single nucleotide variant Diamond-Blackfan anemia 1 [RCV000355112] Chr19:41860761 [GRCh38]
Chr19:42364831 [GRCh37]
Chr19:19q13.2
likely benign
NM_001022.3(RPS19):c.-288A>C single nucleotide variant Diamond-Blackfan anemia 1 [RCV000343828] Chr19:41860002 [GRCh38]
Chr19:42364072 [GRCh37]
Chr19:19q13.2
benign|likely benign
NM_001022.3(RPS19):c.-146_-145insGCCA insertion Diamond-Blackfan anemia [RCV000403164] Chr19:41860143..41860144 [GRCh38]
Chr19:42364213..42364214 [GRCh37]
Chr19:19q13.2
benign
NM_001022.3(RPS19):c.-234G>A single nucleotide variant Diamond-Blackfan anemia 1 [RCV000289918] Chr19:41860056 [GRCh38]
Chr19:42364126 [GRCh37]
Chr19:19q13.2
benign|likely benign
NM_001022.4(RPS19):c.-10A>G single nucleotide variant Diamond-Blackfan anemia 1 [RCV000394135] Chr19:41860280 [GRCh38]
Chr19:42364350 [GRCh37]
Chr19:19q13.2
likely benign|uncertain significance
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg) single nucleotide variant Diamond-Blackfan anemia 1 [RCV001094592]|Diamond-Blackfan anemia [RCV000358661] Chr19:41860842 [GRCh38]
Chr19:42364912 [GRCh37]
Chr19:19q13.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001022.4(RPS19):c.71+12del deletion Diamond-Blackfan anemia [RCV000266291] Chr19:41860854 [GRCh38]
Chr19:42364924 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001022.3(RPS19):c.-274T>C single nucleotide variant Diamond-Blackfan anemia 1 [RCV000404005] Chr19:41860016 [GRCh38]
Chr19:42364086 [GRCh37]
Chr19:19q13.2
benign|likely benign
NM_001022.4(RPS19):c.49G>C (p.Ala17Pro) single nucleotide variant not provided [RCV000489970] Chr19:41860823 [GRCh38]
Chr19:42364893 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_001022.3(RPS19):c.-151G>T single nucleotide variant Diamond-Blackfan anemia 1 [RCV000347289] Chr19:41860139 [GRCh38]
Chr19:42364209 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001022.4(RPS19):c.*54T>C single nucleotide variant Diamond-Blackfan anemia [RCV000344779] Chr19:41871431 [GRCh38]
Chr19:42375499 [GRCh37]
Chr19:19q13.2
likely benign
NM_001022.3(RPS19):c.-74C>T single nucleotide variant Diamond-Blackfan anemia 1 [RCV000351569] Chr19:41860216 [GRCh38]
Chr19:42364286 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001022.3(RPS19):c.-339T>C single nucleotide variant Diamond-Blackfan anemia 1 [RCV000286261] Chr19:41859951 [GRCh38]
Chr19:42364021 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001022.4(RPS19):c.-1+14C>T single nucleotide variant Diamond-Blackfan anemia 1 [RCV000297896] Chr19:41860303 [GRCh38]
Chr19:42364373 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001022.4(RPS19):c.172+5G>C single nucleotide variant Diamond-Blackfan anemia 1 [RCV000323572] Chr19:41861217 [GRCh38]
Chr19:42365286 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001022.3(RPS19):c.-139C>T single nucleotide variant Diamond-Blackfan anemia [RCV000312967] Chr19:41860151 [GRCh38]
Chr19:42364221 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001022.4(RPS19):c.411+2T>C single nucleotide variant not provided [RCV000579035] Chr19:41869755 [GRCh38]
Chr19:42373825 [GRCh37]
Chr19:19q13.2
pathogenic
NM_001022.4(RPS19):c.128_129del (p.Lys43fs) deletion not provided [RCV000599611] Chr19:41861167..41861168 [GRCh38]
Chr19:42365236..42365237 [GRCh37]
Chr19:19q13.2
pathogenic
NM_001022.4(RPS19):c.72-10T>G single nucleotide variant Diamond-Blackfan anemia [RCV000638831] Chr19:41861102 [GRCh38]
Chr19:42365171 [GRCh37]
Chr19:19q13.2
likely benign
NM_001022.4(RPS19):c.3G>T (p.Met1Ile) single nucleotide variant not provided [RCV000413436] Chr19:41860777 [GRCh38]
Chr19:42364847 [GRCh37]
Chr19:19q13.2
pathogenic
NM_001022.4(RPS19):c.406G>T (p.Gly136Ter) single nucleotide variant not provided [RCV000414046] Chr19:41869748 [GRCh38]
Chr19:42373818 [GRCh37]
Chr19:19q13.2
pathogenic
NM_001022.4(RPS19):c.382C>T (p.Gln128Ter) single nucleotide variant Diamond-Blackfan anemia [RCV000462953] Chr19:41869724 [GRCh38]
Chr19:42373794 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_001022.4(RPS19):c.164C>T (p.Thr55Met) single nucleotide variant Diamond-Blackfan anemia 1 [RCV001331478]|Diamond-Blackfan anemia [RCV000471188] Chr19:41861204 [GRCh38]
Chr19:42365273 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001022.4(RPS19):c.43G>T (p.Val15Phe) single nucleotide variant not provided [RCV000482973] Chr19:41860817 [GRCh38]
Chr19:42364887 [GRCh37]
Chr19:19q13.2
pathogenic
NM_001022.4(RPS19):c.335_337TGG[1] (p.Val113del) microsatellite not provided [RCV000478263] Chr19:41869193..41869195 [GRCh38]
Chr19:42373263..42373265 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_001022.4(RPS19):c.139C>T (p.Pro47Ser) single nucleotide variant not provided [RCV000486522] Chr19:41861179 [GRCh38]
Chr19:42365248 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001022.4(RPS19):c.105dup (p.Thr36fs) duplication not provided [RCV000480243] Chr19:41861144..41861145 [GRCh38]
Chr19:42365213..42365214 [GRCh37]
Chr19:19q13.2
pathogenic
NM_001022.4(RPS19):c.356+3A>C single nucleotide variant Diamond-Blackfan anemia 1 [RCV000503534] Chr19:41869217 [GRCh38]
Chr19:42373287 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_001022.4(RPS19):c.1-7C>T single nucleotide variant Diamond-Blackfan anemia 1 [RCV001133649]|not specified [RCV000501777] Chr19:41860768 [GRCh38]
Chr19:42364838 [GRCh37]
Chr19:19q13.2
likely benign|uncertain significance
NM_001022.4(RPS19):c.-1+36= single nucleotide variant not specified [RCV000508381] Chr19:41860325 [GRCh38]
Chr19:42364395 [GRCh37]
Chr19:19q13.2
benign
NM_001022.4(RPS19):c.178A>C (p.Thr60Pro) single nucleotide variant not provided [RCV000494443] Chr19:41869036 [GRCh38]
Chr19:42373106 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_001022.4(RPS19):c.308T>A (p.Val103Asp) single nucleotide variant Diamond-Blackfan anemia [RCV001304587]|not provided [RCV000492907] Chr19:41869166 [GRCh38]
Chr19:42373236 [GRCh37]
Chr19:19q13.2
uncertain significance
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
NM_001022.4(RPS19):c.185G>A (p.Arg62Gln) single nucleotide variant Diamond-Blackfan anemia [RCV000538681] Chr19:41869043 [GRCh38]
Chr19:42373113 [GRCh37]
Chr19:19q13.2
pathogenic
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
NM_001022.4(RPS19):c.72-15C>G single nucleotide variant not specified [RCV000608442] Chr19:41861097 [GRCh38]
Chr19:42365166 [GRCh37]
Chr19:19q13.2
likely benign
NM_001022.4(RPS19):c.367_368dup (p.Leu123_Thr124insTer) duplication Diamond-Blackfan anemia 1 [RCV000714976] Chr19:41869708..41869709 [GRCh38]
Chr19:42373778..42373779 [GRCh37]
Chr19:19q13.2
pathogenic
NC_000019.9:g.(?_42363988)_(42364359_?)del deletion Diamond-Blackfan anemia [RCV000707983] Chr19:42363988..42364359 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001022.4(RPS19):c.384_385del (p.Asp130fs) deletion Diamond-Blackfan anemia [RCV000703435] Chr19:41869725..41869726 [GRCh38]
Chr19:42373795..42373796 [GRCh37]
Chr19:19q13.2
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 Schizophrenia [RCV000754211] Chr19:41608672..44315856 [GRCh38]
Chr19:19q13.2-13.31
likely pathogenic
NM_001022.4(RPS19):c.372A>T (p.Thr124=) single nucleotide variant not provided [RCV000867144] Chr19:41869714 [GRCh38]
Chr19:42373784 [GRCh37]
Chr19:19q13.2
likely benign
NM_001022.4(RPS19):c.333A>G (p.Lys111=) single nucleotide variant not provided [RCV000868994] Chr19:41869191 [GRCh38]
Chr19:42373261 [GRCh37]
Chr19:19q13.2
likely benign
NM_001022.4(RPS19):c.173-9T>C single nucleotide variant Diamond-Blackfan anemia [RCV001062450] Chr19:41869022 [GRCh38]
Chr19:42373092 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001022.4(RPS19):c.175_176delinsCT (p.Ser59Leu) indel Diamond-Blackfan anemia [RCV000793592] Chr19:41869033..41869034 [GRCh38]
Chr19:42373103..42373104 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001022.4(RPS19):c.75C>G (p.Ser25=) single nucleotide variant Diamond-Blackfan anemia [RCV000874125] Chr19:41861115 [GRCh38]
Chr19:42365184 [GRCh37]
Chr19:19q13.2
likely benign
NM_001022.4(RPS19):c.173-2A>G single nucleotide variant Diamond-Blackfan anemia [RCV000798302] Chr19:41869029 [GRCh38]
Chr19:42373099 [GRCh37]
Chr19:19q13.2
pathogenic
NM_001022.4(RPS19):c.410A>G (p.Gln137Arg) single nucleotide variant Diamond-Blackfan anemia [RCV000813156] Chr19:41869752 [GRCh38]
Chr19:42373822 [GRCh37]
Chr19:19q13.2
uncertain significance
NC_000019.9:g.(?_42373091)_(42375455_?)del deletion Diamond-Blackfan anemia [RCV000805921] Chr19:42373091..42375455 [GRCh37]
Chr19:19q13.2
pathogenic
NM_001022.4(RPS19):c.72-1G>A single nucleotide variant Diamond-Blackfan anemia [RCV000801996] Chr19:41861111 [GRCh38]
Chr19:42365180 [GRCh37]
Chr19:19q13.2
likely pathogenic
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33
pathogenic
NM_001022.4(RPS19):c.317C>T (p.Ala106Val) single nucleotide variant Diamond-Blackfan anemia [RCV001231511] Chr19:41869175 [GRCh38]
Chr19:42373245 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001022.4(RPS19):c.3G>A (p.Met1Ile) single nucleotide variant Diamond-Blackfan anemia [RCV001066690] Chr19:41860777 [GRCh38]
Chr19:42364847 [GRCh37]
Chr19:19q13.2
pathogenic
NM_001022.4(RPS19):c.214G>T (p.Val72Phe) single nucleotide variant Landsteiner-Wiener phenotype [RCV000990220] Chr19:41869072 [GRCh38]
Chr19:42373142 [GRCh37]
Chr19:19q13.2
likely pathogenic
NM_001022.4(RPS19):c.257dup (p.Val87fs) duplication Diamond-Blackfan anemia [RCV001222578] Chr19:41869113..41869114 [GRCh38]
Chr19:42373183..42373184 [GRCh37]
Chr19:19q13.2
pathogenic
NM_001022.4(RPS19):c.16del (p.Thr5_Val6insTer) deletion Diamond-Blackfan anemia [RCV001210193] Chr19:41860790 [GRCh38]
Chr19:42364860 [GRCh37]
Chr19:19q13.2
pathogenic
NM_001022.4(RPS19):c.99G>A (p.Trp33Ter) single nucleotide variant Diamond-Blackfan anemia [RCV001210127] Chr19:41861139 [GRCh38]
Chr19:42365208 [GRCh37]
Chr19:19q13.2
pathogenic
NM_001022.4(RPS19):c.259G>A (p.Val87Ile) single nucleotide variant Diamond-Blackfan anemia 1 [RCV001292964]|Diamond-Blackfan anemia [RCV001211758] Chr19:41869117 [GRCh38]
Chr19:42373187 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001022.4(RPS19):c.183G>A (p.Ala61=) single nucleotide variant Diamond-Blackfan anemia 1 [RCV001135146] Chr19:41869041 [GRCh38]
Chr19:42373111 [GRCh37]
Chr19:19q13.2
likely benign
NM_001022.4(RPS19):c.357-5C>G single nucleotide variant Diamond-Blackfan anemia 1 [RCV001135148] Chr19:41869694 [GRCh38]
Chr19:42373764 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001022.4(RPS19):c.87A>G (p.Lys29=) single nucleotide variant not provided [RCV000874126] Chr19:41861127 [GRCh38]
Chr19:42365196 [GRCh37]
Chr19:19q13.2
likely benign
NM_001022.4(RPS19):c.411+6G>C single nucleotide variant Diamond-Blackfan anemia [RCV000863099] Chr19:41869759 [GRCh38]
Chr19:42373829 [GRCh37]
Chr19:19q13.2
benign
NM_001022.4(RPS19):c.126C>T (p.His42=) single nucleotide variant not provided [RCV000867196] Chr19:41861166 [GRCh38]
Chr19:42365235 [GRCh37]
Chr19:19q13.2
likely benign
NM_001022.4(RPS19):c.10G>T (p.Val4Phe) single nucleotide variant Diamond-Blackfan anemia [RCV001226298] Chr19:41860784 [GRCh38]
Chr19:42364854 [GRCh37]
Chr19:19q13.2
uncertain significance
NC_000019.10:g.41860100C>G single nucleotide variant Diamond-Blackfan anemia 1 [RCV001130690] Chr19:41860100 [GRCh38]
Chr19:42364170 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001022.4(RPS19):c.-26C>T single nucleotide variant Diamond-Blackfan anemia 1 [RCV001130692] Chr19:41860264 [GRCh38]
Chr19:42364334 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001022.4(RPS19):c.129_130AG[1] (p.Glu44fs) microsatellite not provided [RCV001091180] Chr19:41861169..41861170 [GRCh38]
Chr19:42365238..42365239 [GRCh37]
Chr19:19q13.2
pathogenic
NC_000019.10:g.41860240G>A single nucleotide variant Diamond-Blackfan anemia 1 [RCV001130691] Chr19:41860240 [GRCh38]
Chr19:42364310 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001022.4(RPS19):c.71+6T>A single nucleotide variant Diamond-Blackfan anemia 1 [RCV001133650] Chr19:41860851 [GRCh38]
Chr19:42364921 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001022.4(RPS19):c.13dup (p.Thr5fs) duplication Diamond-Blackfan anemia [RCV001064225] Chr19:41860786..41860787 [GRCh38]
Chr19:42364856..42364857 [GRCh37]
Chr19:19q13.2
pathogenic
NM_001022.4(RPS19):c.1-13C>T single nucleotide variant Diamond-Blackfan anemia 1 [RCV001133648] Chr19:41860762 [GRCh38]
Chr19:42364832 [GRCh37]
Chr19:19q13.2
benign
NM_001022.4(RPS19):c.198C>T (p.Leu66=) single nucleotide variant Diamond-Blackfan anemia 1 [RCV001135147] Chr19:41869056 [GRCh38]
Chr19:42373126 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001022.4(RPS19):c.295_296delinsCAGCCGA (p.Val99fs) indel Diamond-Blackfan anemia 1 [RCV001255169] Chr19:41869153..41869154 [GRCh38]
Chr19:42373223..42373224 [GRCh37]
Chr19:19q13.2
pathogenic
NM_001022.4(RPS19):c.393G>A (p.Leu131=) single nucleotide variant Diamond-Blackfan anemia 1 [RCV001255174] Chr19:41869735 [GRCh38]
Chr19:42373805 [GRCh37]
Chr19:19q13.2
uncertain significance
GRCh37/hg19 19q13.2(chr19:42259135-42393370)x3 copy number gain not provided [RCV001259940] Chr19:42259135..42393370 [GRCh37]
Chr19:19q13.2
uncertain significance
NM_001022.4(RPS19):c.372dup (p.Pro125fs) duplication not provided [RCV001311533] Chr19:41869713..41869714 [GRCh38]
Chr19:42373783..42373784 [GRCh37]
Chr19:19q13.2
pathogenic
NM_001022.4(RPS19):c.53T>C (p.Leu18Pro) single nucleotide variant Diamond-Blackfan anemia [RCV001303198] Chr19:41860827 [GRCh38]
Chr19:42364897 [GRCh37]
Chr19:19q13.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10402 AgrOrtholog
COSMIC RPS19 COSMIC
Ensembl Genes ENSG00000105372 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000221975 UniProtKB/TrEMBL
  ENSP00000469228 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000469798 UniProtKB/TrEMBL
  ENSP00000470004 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000470972 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000471621 UniProtKB/TrEMBL
  ENSP00000472660 UniProtKB/TrEMBL
Ensembl Transcript ENST00000221975 UniProtKB/TrEMBL
  ENST00000593863 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000598261 UniProtKB/TrEMBL
  ENST00000598399 UniProtKB/TrEMBL
  ENST00000598742 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000600467 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000601492 UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.2700 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000105372 GTEx
HGNC ID HGNC:10402 ENTREZGENE
Human Proteome Map RPS19 Human Proteome Map
InterPro Ribosomal_S19e UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S19e_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_S19e_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6223 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6223 ENTREZGENE
OMIM 105650 OMIM
  603474 OMIM
PANTHER PTHR11710 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ribosomal_S19e UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34803 PharmGKB
PROSITE RIBOSOMAL_S19E UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Ribosomal_S19e UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A075B6E2_HUMAN UniProtKB/TrEMBL
  B0ZBD0 ENTREZGENE, UniProtKB/TrEMBL
  M0QYF7_HUMAN UniProtKB/TrEMBL
  M0R140_HUMAN UniProtKB/TrEMBL
  M0R2L9_HUMAN UniProtKB/TrEMBL
  P39019 ENTREZGENE, UniProtKB/Swiss-Prot