RPL26 (ribosomal protein L26) - Rat Genome Database

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Gene: RPL26 (ribosomal protein L26) Homo sapiens
Analyze
Symbol: RPL26
Name: ribosomal protein L26
RGD ID: 1321610
HGNC Page HGNC:10327
Description: Enables mRNA 5'-UTR binding activity. A structural constituent of ribosome. Involved in several processes, including cellular response to radiation; positive regulation of signal transduction by p53 class mediator; and ribosome biogenesis. Located in cytosolic ribosome; nucleolus; and nucleoplasm. Part of cytosolic large ribosomal subunit. Implicated in Diamond-Blackfan anemia 11.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 60S ribosomal protein L26; DBA11; L26; large ribosomal subunit protein uL24; uL24
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: RPL26P10   RPL26P11   RPL26P12   RPL26P13   RPL26P14   RPL26P15   RPL26P16   RPL26P17   RPL26P18   RPL26P19   RPL26P2   RPL26P20   RPL26P21   RPL26P22   RPL26P23   RPL26P24   RPL26P25   RPL26P26   RPL26P27   RPL26P28   RPL26P29   RPL26P3   RPL26P30   RPL26P31   RPL26P32   RPL26P33   RPL26P34   RPL26P35   RPL26P36   RPL26P37   RPL26P4   RPL26P5   RPL26P6   RPL26P7   RPL26P8   RPL26P9  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38178,377,516 - 8,383,193 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl178,377,516 - 8,383,213 (-)EnsemblGRCh38hg38GRCh38
GRCh37178,280,834 - 8,286,511 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36178,221,559 - 8,227,290 (-)NCBINCBI36Build 36hg18NCBI36
Build 34178,221,564 - 8,227,234NCBI
Celera178,311,586 - 8,317,314 (-)NCBICelera
Cytogenetic Map17p13.1NCBI
HuRef178,175,458 - 8,181,187 (-)NCBIHuRef
CHM1_1178,289,725 - 8,295,454 (-)NCBICHM1_1
T2T-CHM13v2.0178,283,737 - 8,289,839 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27142,647,142 - 142,647,658 (-)NCBI
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  (ISO)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
alpha-Zearalanol  (ISO)
ammonium chloride  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
azoxystrobin  (EXP)
benzo[a]pyrene  (ISO)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
bortezomib  (EXP)
butan-1-ol  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (ISO)
cantharidin  (ISO)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
chromium(6+)  (ISO)
coumarin  (EXP)
cylindrospermopsin  (ISO)
deguelin  (EXP)
diarsenic trioxide  (EXP)
dicrotophos  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
folic acid  (ISO)
FR900359  (EXP)
hydralazine  (EXP)
indometacin  (ISO)
ivermectin  (EXP)
lead(0)  (EXP)
methotrexate  (EXP)
N-nitrosodiethylamine  (ISO)
nicotine  (ISO)
ozone  (EXP)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenethyl caffeate  (ISO)
PhIP  (ISO)
picoxystrobin  (EXP)
pyrimidifen  (EXP)
pyrogallol  (ISO)
rotenone  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
sunitinib  (EXP)
tebufenpyrad  (EXP)
temozolomide  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
tungsten  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function
mRNA 5'-UTR binding  (IMP)
protein binding  (IPI)
RNA binding  (HDA,IBA,IEA,TAS)
structural constituent of ribosome  (IBA,IDA,IEA,IMP,NAS,TAS)

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)
Anemia of inadequate production  (IAGP)
Atresia of the external auditory canal  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bicuspid aortic valve  (IAGP)
Bilateral cleft palate  (IAGP)
Bone marrow hypocellularity  (IAGP)
Cleft lip  (IAGP)
Cleft soft palate  (IAGP)
Coarctation of aorta  (IAGP)
Congenital hypoplastic anemia  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental cataract  (IAGP)
Developmental glaucoma  (IAGP)
Elevated red cell adenosine deaminase activity  (IAGP)
Epicanthus  (IAGP)
Erythroid hypoplasia  (IAGP)
Eyelid coloboma  (IAGP)
Finger aplasia  (IAGP)
Forearm reduction defects  (IAGP)
Granulocytic hypoplasia  (IAGP)
Growth delay  (IAGP)
High palate  (IAGP)
Horseshoe kidney  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the radius  (IAGP)
Hypoplasia of the ulna  (IAGP)
Hypospadias  (IAGP)
Increased mean corpuscular volume  (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)
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)
Ptosis  (IAGP)
Pure red cell aplasia  (IAGP)
Radial artery aplasia  (IAGP)
Radioulnar synostosis  (IAGP)
Renal agenesis  (IAGP)
Reticulocytopenia  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Short thumb  (IAGP)
Small for gestational age  (IAGP)
Sprengel anomaly  (IAGP)
Stenosis of the external auditory canal  (IAGP)
Strabismus  (IAGP)
Third trimester onset  (IAGP)
Thrombocytopenia  (IAGP)
Thrombocytosis  (IAGP)
Triphalangeal thumb  (IAGP)
Unilateral radial aplasia  (IAGP)
Unilateral renal agenesis  (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. An overview of pre-ribosomal RNA processing in eukaryotes. Henras AK, etal., Wiley Interdiscip Rev RNA. 2015 Mar-Apr;6(2):225-42. doi: 10.1002/wrna.1269. Epub 2014 Oct 27.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7821789   PMID:8479925   PMID:8722009   PMID:9582194   PMID:11401437   PMID:11790298   PMID:11875025   PMID:12477932   PMID:12777385   PMID:12962325   PMID:14567916   PMID:15189156  
PMID:15489334   PMID:16169070   PMID:16213212   PMID:17353931   PMID:17361185   PMID:17620599   PMID:18457437   PMID:18697920   PMID:18951086   PMID:19615732   PMID:19738201   PMID:19946888  
PMID:20020773   PMID:20301769   PMID:20458337   PMID:20542919   PMID:20562864   PMID:21045808   PMID:21081503   PMID:21145461   PMID:21280222   PMID:21319273   PMID:21873635   PMID:21988832  
PMID:22190735   PMID:22431104   PMID:22433872   PMID:22586326   PMID:22623428   PMID:22681889   PMID:22863883   PMID:22868929   PMID:23084401   PMID:23169665   PMID:23246001   PMID:23398456  
PMID:23443559   PMID:23463506   PMID:24457600   PMID:24625528   PMID:24965446   PMID:25324306   PMID:25437307   PMID:25662211   PMID:25723396   PMID:25963833   PMID:26100019   PMID:26186194  
PMID:26344197   PMID:26381412   PMID:26527279   PMID:26549023   PMID:26687066   PMID:26725010   PMID:26990986   PMID:27025967   PMID:27101085   PMID:27432908   PMID:27503909   PMID:27545878  
PMID:27552055   PMID:27684187   PMID:27825141   PMID:27976729   PMID:28288992   PMID:28514442   PMID:28515276   PMID:28524877   PMID:28533407   PMID:28581483   PMID:28927264   PMID:28977470  
PMID:28977666   PMID:29117863   PMID:29128334   PMID:29229926   PMID:29298432   PMID:29568061   PMID:29721183   PMID:29773831   PMID:29802200   PMID:29845934   PMID:29991511   PMID:30021884  
PMID:30097533   PMID:30154076   PMID:30320910   PMID:30344098   PMID:30459231   PMID:30463901   PMID:30626644   PMID:30804502   PMID:30884312   PMID:30890647   PMID:30997501   PMID:31048545  
PMID:31059266   PMID:31091453   PMID:31180492   PMID:31253590   PMID:31363146   PMID:31405213   PMID:31476572   PMID:31586073   PMID:31640799   PMID:31980649   PMID:32041737   PMID:32129710  
PMID:32249768   PMID:32669547   PMID:32687490   PMID:32788342   PMID:32807901   PMID:32929329   PMID:33001583   PMID:33194618   PMID:33226137   PMID:33277362   PMID:33301849   PMID:33306668  
PMID:33378683   PMID:33644029   PMID:33729478   PMID:33838681   PMID:33916271   PMID:33957083   PMID:33961781   PMID:33989516   PMID:34029587   PMID:34091597   PMID:34133714   PMID:34185411  
PMID:34316702   PMID:34316707   PMID:34349018   PMID:34373451   PMID:34428256   PMID:34619150   PMID:34650049   PMID:35012549   PMID:35013218   PMID:35063084   PMID:35140242   PMID:35235311  
PMID:35256949   PMID:35338135   PMID:35439318   PMID:35446349   PMID:35563538   PMID:35575683   PMID:35676659   PMID:35819319   PMID:35850772   PMID:35915203   PMID:35944360   PMID:36114006  
PMID:36199071   PMID:36215168   PMID:36307841   PMID:36424410   PMID:36517590   PMID:36526897   PMID:36537216   PMID:36574265   PMID:36597993   PMID:36779763   PMID:36848233   PMID:36880596  
PMID:36912080   PMID:36931259   PMID:37071682   PMID:37211047   PMID:37249651   PMID:37314216   PMID:37317656   PMID:37616343   PMID:37689310   PMID:37827155   PMID:37845327   PMID:38113892  
PMID:38172120   PMID:38334954   PMID:38569033   PMID:39066279  


Genomics

Comparative Map Data
RPL26
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38178,377,516 - 8,383,193 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl178,377,516 - 8,383,213 (-)EnsemblGRCh38hg38GRCh38
GRCh37178,280,834 - 8,286,511 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36178,221,559 - 8,227,290 (-)NCBINCBI36Build 36hg18NCBI36
Build 34178,221,564 - 8,227,234NCBI
Celera178,311,586 - 8,317,314 (-)NCBICelera
Cytogenetic Map17p13.1NCBI
HuRef178,175,458 - 8,181,187 (-)NCBIHuRef
CHM1_1178,289,725 - 8,295,454 (-)NCBICHM1_1
T2T-CHM13v2.0178,283,737 - 8,289,839 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27142,647,142 - 142,647,658 (-)NCBI
Rpl26
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391168,792,392 - 68,795,360 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1168,792,409 - 68,797,815 (+)EnsemblGRCm39 Ensembl
GRCm381168,901,566 - 68,904,534 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1168,901,583 - 68,906,989 (+)EnsemblGRCm38mm10GRCm38
MGSCv371168,715,068 - 68,718,036 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3653,242,396 - 3,242,934 (+)NCBIMGSCv36mm8
Celera1175,851,533 - 75,854,505 (+)NCBICelera
Cytogenetic Map11B3NCBI
cM Map1142.17NCBI
Rpl26
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81054,109,692 - 54,112,822 (+)NCBIGRCr8
mRatBN7.21053,610,836 - 53,613,966 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1053,610,421 - 53,613,966 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx677,161,785 - 77,162,308 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0677,461,108 - 77,461,631 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01053,269,862 - 53,272,989 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01055,492,417 - 55,495,547 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1055,492,404 - 55,496,012 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01055,234,665 - 55,238,391 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41055,662,220 - 55,665,752 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11055,675,648 - 55,678,904 (+)NCBI
Celera1052,777,155 - 52,780,285 (+)NCBICelera
Cytogenetic Map10q24NCBI
Rpl26
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554678,519,760 - 8,527,182 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554678,519,760 - 8,525,514 (+)NCBIChiLan1.0ChiLan1.0
RPL26
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21965,370,286 - 65,377,332 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11770,180,689 - 70,186,795 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01743,274,839 - 43,282,606 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11748,008,951 - 48,015,977 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1748,009,198 - 48,015,977 (+)Ensemblpanpan1.1panPan2
RPL26
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1533,152,114 - 33,158,237 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl533,152,113 - 33,158,302 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha533,287,982 - 33,294,136 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0533,255,271 - 33,261,512 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl533,255,271 - 33,261,468 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1533,222,399 - 33,228,549 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0533,177,657 - 33,183,810 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0533,357,730 - 33,363,882 (-)NCBIUU_Cfam_GSD_1.0
Rpl26
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560248,129,729 - 48,134,886 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365951,603,413 - 1,609,132 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365951,603,913 - 1,609,125 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RPL26
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1253,548,321 - 53,553,455 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11253,548,313 - 53,553,453 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21256,024,039 - 56,029,520 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RPL26
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1167,733,652 - 7,740,384 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl167,732,921 - 7,740,325 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605913,656,977 - 13,663,801 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rpl26
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478610,946,302 - 10,953,564 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478610,948,624 - 10,953,381 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RPL26
71 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000987.5(RPL26):c.120_121del (p.Lys41fs) deletion Diamond-Blackfan anemia 11 [RCV000032955] Chr17:8382190..8382191 [GRCh38]
Chr17:8285508..8285509 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:7750804-10112969)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052460]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052460]|See cases [RCV000052460] Chr17:7750804..10112969 [GRCh38]
Chr17:7654122..10016286 [GRCh37]
Chr17:7594847..9957011 [NCBI36]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6307904-8842949)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|See cases [RCV000053407] Chr17:6307904..8842949 [GRCh38]
Chr17:6211224..8746266 [GRCh37]
Chr17:6151948..8686991 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1 copy number loss See cases [RCV000053426] Chr17:7478195..8435524 [GRCh38]
Chr17:7381514..8338842 [GRCh37]
Chr17:7322238..8279567 [NCBI36]
Chr17:17p13.1		 pathogenic
GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 copy number gain See cases [RCV000134851] Chr17:5732953..12095349 [GRCh38]
Chr17:5636273..11998666 [GRCh37]
Chr17:5576997..11939391 [NCBI36]
Chr17:17p13.2-12		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.1(chr17:7967712-8490279)x3 copy number gain See cases [RCV000141063] Chr17:7967712..8490279 [GRCh38]
Chr17:7871030..8393597 [GRCh37]
Chr17:7811755..8334322 [NCBI36]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12		 pathogenic
NM_000987.5(RPL26):c.259C>T (p.Arg87Trp) single nucleotide variant Diamond-Blackfan anemia [RCV000230178] Chr17:8379846 [GRCh38]
Chr17:8283164 [GRCh37]
Chr17:17p13.1		 likely pathogenic|uncertain significance
NC_000017.11:g.(?_7669603)_(8382316_?)del deletion Diamond-Blackfan anemia [RCV000538057]|Dyskeratosis congenita [RCV001382188]|Li-Fraumeni syndrome [RCV003105948] Chr17:7669603..8382316 [GRCh38]
Chr17:7572921..8285634 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.1(chr17:7966164-8338622)x3 copy number gain See cases [RCV000447606] Chr17:7966164..8338622 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.1(chr17:7241916-8692213)x1 copy number loss See cases [RCV000445992] Chr17:7241916..8692213 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.1(chr17:7929776-9995862)x3 copy number gain See cases [RCV000447853] Chr17:7929776..9995862 [GRCh37]
Chr17:17p13.1		 uncertain significance
NC_000017.10:g.(?_8280834)_(8283254_?)dup duplication Diamond-Blackfan anemia [RCV000465764] Chr17:8377516..8379936 [GRCh38]
Chr17:8280834..8283254 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.1(chr17:7431013-9868179)x3 copy number gain See cases [RCV000511388] Chr17:7431013..9868179 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12		 pathogenic
NM_000987.5(RPL26):c.-5-16_-5-15del deletion Diamond-Blackfan anemia 11 [RCV002491279]|not specified [RCV000608204] Chr17:8382330..8382331 [GRCh38]
Chr17:8285648..8285649 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_000987.5(RPL26):c.96C>T (p.Ser32=) single nucleotide variant Diamond-Blackfan anemia 11 [RCV002506331]|Diamond-Blackfan anemia [RCV000535338] Chr17:8382215 [GRCh38]
Chr17:8285533 [GRCh37]
Chr17:17p13.1		 benign|likely benign
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.1(chr17:8219814-8676240)x3 copy number gain not provided [RCV000683885] Chr17:8219814..8676240 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_000987.5(RPL26):c.310-49T>G single nucleotide variant not provided [RCV001692576] Chr17:8377741 [GRCh38]
Chr17:8281059 [GRCh37]
Chr17:17p13.1		 benign
NM_000987.5(RPL26):c.168+63A>G single nucleotide variant not provided [RCV001708063] Chr17:8382080 [GRCh38]
Chr17:8285398 [GRCh37]
Chr17:17p13.1		 benign
NM_000987.5(RPL26):c.168+211del deletion not provided [RCV001641886] Chr17:8381932 [GRCh38]
Chr17:8285250 [GRCh37]
Chr17:17p13.1		 benign
NM_000987.5(RPL26):c.255G>A (p.Val85=) single nucleotide variant Diamond-Blackfan anemia [RCV000870327] Chr17:8379850 [GRCh38]
Chr17:8283168 [GRCh37]
Chr17:17p13.1		 likely benign
NC_000017.11:g.(?_8228170)_(8382320_?)dup duplication Diamond-Blackfan anemia [RCV001343466]|Dyskeratosis congenita [RCV001033786] Chr17:8131488..8285638 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.342C>T (p.Asp114=) single nucleotide variant Diamond-Blackfan anemia 11 [RCV002507528]|Diamond-Blackfan anemia [RCV003103882] Chr17:8377660 [GRCh38]
Chr17:8280978 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000987.5(RPL26):c.153G>A (p.Lys51=) single nucleotide variant Diamond-Blackfan anemia [RCV000809374] Chr17:8382158 [GRCh38]
Chr17:8285476 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
GRCh37/hg19 17p13.1(chr17:7676383-8350870)x3 copy number gain not provided [RCV000848522] Chr17:7676383..8350870 [GRCh37]
Chr17:17p13.1		 uncertain significance
NC_000017.11:g.(?_7669599)_(8382320_?)del deletion Li-Fraumeni syndrome [RCV000803922] Chr17:7669599..8382320 [GRCh38]
Chr17:7572917..8285638 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_000987.5(RPL26):c.168+210_168+211del deletion not provided [RCV001714611] Chr17:8381932..8381933 [GRCh38]
Chr17:8285250..8285251 [GRCh37]
Chr17:17p13.1		 benign
NM_000987.5(RPL26):c.168+9C>G single nucleotide variant not provided [RCV000913452] Chr17:8382134 [GRCh38]
Chr17:8285452 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000987.5(RPL26):c.169-232C>G single nucleotide variant not provided [RCV001666335] Chr17:8380168 [GRCh38]
Chr17:8283486 [GRCh37]
Chr17:17p13.1		 benign
NM_000987.5(RPL26):c.377G>A (p.Arg126His) single nucleotide variant Diamond-Blackfan anemia 11 [RCV002480706]|Diamond-Blackfan anemia [RCV001215912]|not specified [RCV001819905] Chr17:8377625 [GRCh38]
Chr17:8280943 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.359A>G (p.Glu120Gly) single nucleotide variant Diamond-Blackfan anemia [RCV001324526] Chr17:8377643 [GRCh38]
Chr17:8280961 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.169-5C>G single nucleotide variant Diamond-Blackfan anemia [RCV001340451] Chr17:8379941 [GRCh38]
Chr17:8283259 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NC_000017.10:g.(?_8192101)_(8283260_?)dup duplication Diamond-Blackfan anemia [RCV001372152] Chr17:8192101..8283260 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.24T>C (p.Thr8=) single nucleotide variant Diamond-Blackfan anemia [RCV001400125] Chr17:8382287 [GRCh38]
Chr17:8285605 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000987.5(RPL26):c.128A>G (p.Asn43Ser) single nucleotide variant Diamond-Blackfan anemia [RCV001444757]|RPL26-related disorder [RCV003946161]|not specified [RCV003151321] Chr17:8382183 [GRCh38]
Chr17:8285501 [GRCh37]
Chr17:17p13.1		 likely benign|uncertain significance
NM_000987.5(RPL26):c.384A>T (p.Val128=) single nucleotide variant Diamond-Blackfan anemia [RCV001436665] Chr17:8377618 [GRCh38]
Chr17:8280936 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000987.5(RPL26):c.327A>G (p.Leu109=) single nucleotide variant Diamond-Blackfan anemia 11 [RCV002501757]|Diamond-Blackfan anemia [RCV001510863] Chr17:8377675 [GRCh38]
Chr17:8280993 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_000987.5(RPL26):c.169-125G>C single nucleotide variant not provided [RCV001684376] Chr17:8380061 [GRCh38]
Chr17:8283379 [GRCh37]
Chr17:17p13.1		 benign
NM_000987.5(RPL26):c.168+261A>G single nucleotide variant not provided [RCV001769731] Chr17:8381882 [GRCh38]
Chr17:8285200 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000987.5(RPL26):c.168+188A>T single nucleotide variant not provided [RCV001787588] Chr17:8381955 [GRCh38]
Chr17:8285273 [GRCh37]
Chr17:17p13.1		 likely benign
NC_000017.11:g.8377343TCT[2] microsatellite not provided [RCV001776538] Chr17:8377341..8377343 [GRCh38]
Chr17:8280659..8280661 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000987.5(RPL26):c.130G>T (p.Val44Leu) single nucleotide variant Diamond-Blackfan anemia [RCV001995046]|RPL26-related disorder [RCV004731217] Chr17:8382181 [GRCh38]
Chr17:8285499 [GRCh37]
Chr17:17p13.1		 uncertain significance
NC_000017.10:g.(?_8131498)_(8285628_?)dup duplication Diamond-Blackfan anemia [RCV003107905]|Dyskeratosis congenita [RCV001950640] Chr17:8131498..8285628 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.139A>G (p.Met47Val) single nucleotide variant Diamond-Blackfan anemia [RCV001877614] Chr17:8382172 [GRCh38]
Chr17:8285490 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.361C>T (p.Arg121Trp) single nucleotide variant Diamond-Blackfan anemia [RCV001872142] Chr17:8377641 [GRCh38]
Chr17:8280959 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.97C>T (p.Pro33Ser) single nucleotide variant Diamond-Blackfan anemia [RCV002041547] Chr17:8382214 [GRCh38]
Chr17:8285532 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.341del (p.Asp114fs) deletion Diamond-Blackfan anemia 11 [RCV001825205] Chr17:8377661 [GRCh38]
Chr17:8280979 [GRCh37]
Chr17:17p13.1		 not provided
GRCh37/hg19 17p13.1(chr17:7241916-8692213) copy number loss not specified [RCV002052586] Chr17:7241916..8692213 [GRCh37]
Chr17:17p13.1		 pathogenic
GRCh37/hg19 17p13.1(chr17:7929776-9995862) copy number gain not specified [RCV002052588] Chr17:7929776..9995862 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.145A>G (p.Ile49Val) single nucleotide variant Diamond-Blackfan anemia [RCV001981890] Chr17:8382166 [GRCh38]
Chr17:8285484 [GRCh37]
Chr17:17p13.1		 uncertain significance
NC_000017.10:g.(?_8136214)_(8285628_?)del deletion Diamond-Blackfan anemia [RCV001963287] Chr17:8136214..8285628 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_000987.5(RPL26):c.288C>T (p.His96=) single nucleotide variant Diamond-Blackfan anemia [RCV002076044] Chr17:8379817 [GRCh38]
Chr17:8283135 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000987.5(RPL26):c.168+17G>A single nucleotide variant Diamond-Blackfan anemia 11 [RCV002486950]|Diamond-Blackfan anemia [RCV002130782] Chr17:8382126 [GRCh38]
Chr17:8285444 [GRCh37]
Chr17:17p13.1		 benign|likely benign
NM_000987.5(RPL26):c.276C>A (p.Gly92=) single nucleotide variant Diamond-Blackfan anemia [RCV003115827] Chr17:8379829 [GRCh38]
Chr17:8283147 [GRCh37]
Chr17:17p13.1		 likely benign
NC_000017.10:g.(?_7571752)_(8285628_?)del deletion Li-Fraumeni syndrome [RCV003111422] Chr17:7571752..8285628 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_000987.5(RPL26):c.-5-204A>G single nucleotide variant not provided [RCV002285810] Chr17:8382519 [GRCh38]
Chr17:8285837 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000987.5(RPL26):c.-5-164C>T single nucleotide variant not provided [RCV002285783] Chr17:8382479 [GRCh38]
Chr17:8285797 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000987.5(RPL26):c.72C>T (p.His24=) single nucleotide variant Diamond-Blackfan anemia [RCV002382760] Chr17:8382239 [GRCh38]
Chr17:8285557 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000987.5(RPL26):c.309+18T>C single nucleotide variant Diamond-Blackfan anemia [RCV002614902] Chr17:8379778 [GRCh38]
Chr17:8283096 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000987.5(RPL26):c.169-16T>C single nucleotide variant Diamond-Blackfan anemia [RCV002754937] Chr17:8379952 [GRCh38]
Chr17:8283270 [GRCh37]
Chr17:17p13.1		 benign
NM_000987.5(RPL26):c.349A>C (p.Lys117Gln) single nucleotide variant Diamond-Blackfan anemia [RCV002637352] Chr17:8377653 [GRCh38]
Chr17:8280971 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.371A>C (p.Lys124Thr) single nucleotide variant Diamond-Blackfan anemia [RCV002593399] Chr17:8377631 [GRCh38]
Chr17:8280949 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.168+18T>G single nucleotide variant Diamond-Blackfan anemia [RCV002696279] Chr17:8382125 [GRCh38]
Chr17:8285443 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000987.5(RPL26):c.369C>T (p.Ala123=) single nucleotide variant Diamond-Blackfan anemia [RCV002640311] Chr17:8377633 [GRCh38]
Chr17:8280951 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000987.5(RPL26):c.300C>T (p.His100=) single nucleotide variant Diamond-Blackfan anemia [RCV002785808] Chr17:8379805 [GRCh38]
Chr17:8283123 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000987.5(RPL26):c.313G>A (p.Val105Ile) single nucleotide variant Diamond-Blackfan anemia [RCV002979539] Chr17:8377689 [GRCh38]
Chr17:8281007 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.436T>G (p.Ter146Glu) single nucleotide variant Diamond-Blackfan anemia [RCV003018062] Chr17:8377566 [GRCh38]
Chr17:8280884 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.310-16dup duplication Diamond-Blackfan anemia [RCV003078188] Chr17:8377707..8377708 [GRCh38]
Chr17:8281025..8281026 [GRCh37]
Chr17:17p13.1		 benign
NM_000987.5(RPL26):c.83A>G (p.Lys28Arg) single nucleotide variant Diamond-Blackfan anemia [RCV003042843] Chr17:8382228 [GRCh38]
Chr17:8285546 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.58A>G (p.Asn20Asp) single nucleotide variant Diamond-Blackfan anemia [RCV002625096] Chr17:8382253 [GRCh38]
Chr17:8285571 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.107A>T (p.Lys36Ile) single nucleotide variant Diamond-Blackfan anemia [RCV003005897] Chr17:8382204 [GRCh38]
Chr17:8285522 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.105C>G (p.Ser35=) single nucleotide variant Diamond-Blackfan anemia [RCV002932700]|RPL26-related disorder [RCV003898602] Chr17:8382206 [GRCh38]
Chr17:8285524 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000987.5(RPL26):c.29A>C (p.Asp10Ala) single nucleotide variant Diamond-Blackfan anemia [RCV002624387] Chr17:8382282 [GRCh38]
Chr17:8285600 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.286C>T (p.His96Tyr) single nucleotide variant Diamond-Blackfan anemia [RCV002629452] Chr17:8379819 [GRCh38]
Chr17:8283137 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.180A>G (p.Gly60=) single nucleotide variant Diamond-Blackfan anemia [RCV002962963] Chr17:8379925 [GRCh38]
Chr17:8283243 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000987.5(RPL26):c.133C>G (p.Arg45Gly) single nucleotide variant Diamond-Blackfan anemia [RCV002937278] Chr17:8382178 [GRCh38]
Chr17:8285496 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.382G>A (p.Val128Ile) single nucleotide variant Diamond-Blackfan anemia [RCV003091259] Chr17:8377620 [GRCh38]
Chr17:8280938 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.352A>T (p.Ile118Phe) single nucleotide variant Diamond-Blackfan anemia [RCV002680741] Chr17:8377650 [GRCh38]
Chr17:8280968 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.168+15T>G single nucleotide variant Diamond-Blackfan anemia [RCV003052756] Chr17:8382128 [GRCh38]
Chr17:8285446 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000987.5(RPL26):c.377G>C (p.Arg126Pro) single nucleotide variant Diamond-Blackfan anemia [RCV002606906] Chr17:8377625 [GRCh38]
Chr17:8280943 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.309+13G>T single nucleotide variant Diamond-Blackfan anemia [RCV002635714] Chr17:8379783 [GRCh38]
Chr17:8283101 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000987.5(RPL26):c.357C>G (p.Leu119=) single nucleotide variant Diamond-Blackfan anemia [RCV003068925] Chr17:8377645 [GRCh38]
Chr17:8280963 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000987.5(RPL26):c.168+6T>G single nucleotide variant Diamond-Blackfan anemia 11 [RCV003224726] Chr17:8382137 [GRCh38]
Chr17:8285455 [GRCh37]
Chr17:17p13.1		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV003327726] Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12		 pathogenic
Single allele duplication not provided [RCV003448671] Chr17:7709286..8297901 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.388A>G (p.Lys130Glu) single nucleotide variant Diamond-Blackfan anemia [RCV003508724] Chr17:8377614 [GRCh38]
Chr17:8280932 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.332T>C (p.Leu111Pro) single nucleotide variant Diamond-Blackfan anemia [RCV003848952] Chr17:8377670 [GRCh38]
Chr17:8280988 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.15C>T (p.Pro5=) single nucleotide variant Diamond-Blackfan anemia [RCV003508550] Chr17:8382296 [GRCh38]
Chr17:8285614 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000987.5(RPL26):c.426G>A (p.Lys142=) single nucleotide variant Diamond-Blackfan anemia [RCV003507828] Chr17:8377576 [GRCh38]
Chr17:8280894 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000987.5(RPL26):c.408G>A (p.Lys136=) single nucleotide variant Diamond-Blackfan anemia [RCV003508205] Chr17:8377594 [GRCh38]
Chr17:8280912 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000987.5(RPL26):c.15C>G (p.Pro5=) single nucleotide variant Diamond-Blackfan anemia [RCV003506896] Chr17:8382296 [GRCh38]
Chr17:8285614 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000987.5(RPL26):c.168+11C>G single nucleotide variant Diamond-Blackfan anemia [RCV003508588] Chr17:8382132 [GRCh38]
Chr17:8285450 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000987.5(RPL26):c.251G>C (p.Arg84Pro) single nucleotide variant Diamond-Blackfan anemia [RCV003508401] Chr17:8379854 [GRCh38]
Chr17:8283172 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.44G>T (p.Arg15Leu) single nucleotide variant Diamond-Blackfan anemia [RCV003616047] Chr17:8382267 [GRCh38]
Chr17:8285585 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.309+13_309+14delinsCT indel Diamond-Blackfan anemia [RCV003616642] Chr17:8379782..8379783 [GRCh38]
Chr17:8283100..8283101 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.169-19C>T single nucleotide variant Diamond-Blackfan anemia [RCV003615669] Chr17:8379955 [GRCh38]
Chr17:8283273 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000987.5(RPL26):c.309+7G>T single nucleotide variant Diamond-Blackfan anemia [RCV003617213] Chr17:8379789 [GRCh38]
Chr17:8283107 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000987.5(RPL26):c.168+4T>G single nucleotide variant Diamond-Blackfan anemia [RCV003616375] Chr17:8382139 [GRCh38]
Chr17:8285457 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.243C>T (p.Tyr81=) single nucleotide variant Diamond-Blackfan anemia [RCV003617091] Chr17:8379862 [GRCh38]
Chr17:8283180 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000987.5(RPL26):c.416C>T (p.Thr139Ile) single nucleotide variant Diamond-Blackfan anemia [RCV003838510] Chr17:8377586 [GRCh38]
Chr17:8280904 [GRCh37]
Chr17:17p13.1		 uncertain significance
NM_000987.5(RPL26):c.45C>T (p.Arg15=) single nucleotide variant Diamond-Blackfan anemia [RCV003872182] Chr17:8382266 [GRCh38]
Chr17:8285584 [GRCh37]
Chr17:17p13.1		 likely benign
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2		 pathogenic
NM_000987.5(RPL26):c.234T>C (p.Tyr78=) single nucleotide variant Diamond-Blackfan anemia [RCV003823598] Chr17:8379871 [GRCh38]
Chr17:8283189 [GRCh37]
Chr17:17p13.1		 likely benign
NM_000987.5(RPL26):c.-5-2A>G single nucleotide variant Diamond-Blackfan anemia 11 [RCV004527283] Chr17:8382317 [GRCh38]
Chr17:8285635 [GRCh37]
Chr17:17p13.1		 likely pathogenic
NM_000987.5(RPL26):c.87del (p.Met30fs) deletion Diamond-Blackfan anemia 11 [RCV004527284] Chr17:8382224 [GRCh38]
Chr17:8285542 [GRCh37]
Chr17:17p13.1		 pathogenic
NM_000987.5(RPL26):c.-6+3_-6+25del deletion Diamond-Blackfan anemia 11 [RCV004527282] Chr17:8383132..8383154 [GRCh38]
Chr17:8286450..8286472 [GRCh37]
Chr17:17p13.1		 likely pathogenic
NC_000017.10:g.(?_422368)_(8285628_?)dup duplication not provided [RCV004581443] Chr17:422368..8285628 [GRCh37]
Chr17:17p13.3-13.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1642
Count of miRNA genes:625
Interacting mature miRNAs:707
Transcripts:ENST00000293842, ENST00000578069, ENST00000578115, ENST00000578812, ENST00000582485, ENST00000582556, ENST00000583011, ENST00000583515, ENST00000584164, ENST00000584343, ENST00000584441, ENST00000584906, ENST00000585176
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407280786GWAS929762_Hbody height QTL GWAS929762 (human)3e-36body height (VT:0001253)body height (CMO:0000106)1783804168380417Human

Markers in Region
D17S1277  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37178,285,684 - 8,286,027UniSTSGRCh37
Build 36178,226,409 - 8,226,752RGDNCBI36
Celera178,316,433 - 8,316,776RGD
Cytogenetic Map17p13UniSTS
HuRef178,180,306 - 8,180,649UniSTS
GeneMap99-GB4 RH Map1754.94UniSTS
Whitehead-RH Map1784.4UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2245 4942 1723 2345 4 622 1948 464 2268 7281 6454 52 3708 847 1731 1612 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_031989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001315530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001315531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054316869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB061829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC135178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX888013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC066316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI091167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI596427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI603704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM928617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU954679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D28413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L07287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000578069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl178,377,526 - 8,380,084 (-)Ensembl
Ensembl Acc Id: ENST00000578115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl178,381,784 - 8,383,193 (-)Ensembl
Ensembl Acc Id: ENST00000578812   ⟹   ENSP00000463910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl178,379,145 - 8,383,193 (-)Ensembl
Ensembl Acc Id: ENST00000582485   ⟹   ENSP00000464143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl178,377,544 - 8,382,309 (-)Ensembl
Ensembl Acc Id: ENST00000582556   ⟹   ENSP00000463470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl178,377,549 - 8,383,166 (-)Ensembl
Ensembl Acc Id: ENST00000583011   ⟹   ENSP00000462322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl178,377,523 - 8,383,213 (-)Ensembl
Ensembl Acc Id: ENST00000583515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl178,379,815 - 8,382,554 (-)Ensembl
Ensembl Acc Id: ENST00000584164   ⟹   ENSP00000463784
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl178,377,521 - 8,383,164 (-)Ensembl
Ensembl Acc Id: ENST00000584343   ⟹   ENSP00000464239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl178,377,679 - 8,383,009 (-)Ensembl
Ensembl Acc Id: ENST00000584441   ⟹   ENSP00000462249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl178,377,538 - 8,379,936 (-)Ensembl
Ensembl Acc Id: ENST00000584906   ⟹   ENSP00000462619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl178,377,521 - 8,382,315 (-)Ensembl
Ensembl Acc Id: ENST00000585176
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl178,377,610 - 8,383,192 (-)Ensembl
Ensembl Acc Id: ENST00000648839   ⟹   ENSP00000498177
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl178,377,516 - 8,383,193 (-)Ensembl
RefSeq Acc Id: NM_000987   ⟹   NP_000978
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38178,377,516 - 8,383,193 (-)NCBI
GRCh37178,280,834 - 8,286,565 (-)RGD
GRCh37178,280,834 - 8,286,565 (-)NCBI
Build 36178,221,559 - 8,227,290 (-)NCBI Archive
Celera178,311,586 - 8,317,314 (-)RGD
HuRef178,175,458 - 8,181,187 (-)RGD
CHM1_1178,289,725 - 8,295,454 (-)NCBI
T2T-CHM13v2.0178,283,737 - 8,289,406 (-)NCBI
CRA_TCAGchr7v27142,647,142 - 142,647,658 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001315530   ⟹   NP_001302459
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38178,377,516 - 8,383,193 (-)NCBI
CHM1_1178,289,725 - 8,295,371 (-)NCBI
T2T-CHM13v2.0178,283,737 - 8,289,406 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001315531   ⟹   NP_001302460
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38178,377,516 - 8,383,193 (-)NCBI
CHM1_1178,289,725 - 8,295,371 (-)NCBI
T2T-CHM13v2.0178,283,737 - 8,289,406 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054316869   ⟹   XP_054172844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0178,283,737 - 8,289,839 (-)NCBI
RefSeq Acc Id: NP_000978   ⟸   NM_000987
- UniProtKB: Q02877 (UniProtKB/Swiss-Prot),   D3DTR8 (UniProtKB/Swiss-Prot),   B2R4F0 (UniProtKB/Swiss-Prot),   Q6IPY2 (UniProtKB/Swiss-Prot),   P61254 (UniProtKB/Swiss-Prot),   Q6IBH6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001302460   ⟸   NM_001315531
- UniProtKB: Q02877 (UniProtKB/Swiss-Prot),   D3DTR8 (UniProtKB/Swiss-Prot),   B2R4F0 (UniProtKB/Swiss-Prot),   Q6IPY2 (UniProtKB/Swiss-Prot),   P61254 (UniProtKB/Swiss-Prot),   Q6IBH6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001302459   ⟸   NM_001315530
- UniProtKB: Q02877 (UniProtKB/Swiss-Prot),   D3DTR8 (UniProtKB/Swiss-Prot),   B2R4F0 (UniProtKB/Swiss-Prot),   Q6IPY2 (UniProtKB/Swiss-Prot),   P61254 (UniProtKB/Swiss-Prot),   Q6IBH6 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000498177   ⟸   ENST00000648839
Ensembl Acc Id: ENSP00000463470   ⟸   ENST00000582556
Ensembl Acc Id: ENSP00000464143   ⟸   ENST00000582485
Ensembl Acc Id: ENSP00000462322   ⟸   ENST00000583011
Ensembl Acc Id: ENSP00000462249   ⟸   ENST00000584441
Ensembl Acc Id: ENSP00000464239   ⟸   ENST00000584343
Ensembl Acc Id: ENSP00000463784   ⟸   ENST00000584164
Ensembl Acc Id: ENSP00000462619   ⟸   ENST00000584906
Ensembl Acc Id: ENSP00000463910   ⟸   ENST00000578812
RefSeq Acc Id: XP_054172844   ⟸   XM_054316869
- Peptide Label: isoform X1
- UniProtKB: Q02877 (UniProtKB/Swiss-Prot),   P61254 (UniProtKB/Swiss-Prot),   D3DTR8 (UniProtKB/Swiss-Prot),   B2R4F0 (UniProtKB/Swiss-Prot),   Q6IPY2 (UniProtKB/Swiss-Prot)
Protein Domains
KOW

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P61254-F1-model_v2 AlphaFold P61254 1-145 view protein structure

Promoters
RGD ID:6814611
Promoter ID:HG_XEF:3258
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_001005104,   NM_001015512,   NM_001043768,   NM_001105788,   NM_001135949,   NM_001135950,   NM_001135951,   NM_001140622,   NM_001178039,   NM_213113
Position:
Human AssemblyChrPosition (strand)Source
Build 36178,226,351 - 8,226,851 (-)MPROMDB
RGD ID:6794032
Promoter ID:HG_KWN:24963
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:ENST00000334048,   OTTHUMT00000226997
Position:
Human AssemblyChrPosition (strand)Source
Build 36178,227,146 - 8,227,812 (-)MPROMDB
RGD ID:6850728
Promoter ID:EP73158
Type:single initiation site
Name:HS_RPL26
Description:Ribosomal protein L26.
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 36178,227,236 - 8,227,296EPD
RGD ID:7233939
Promoter ID:EPDNEW_H22715
Type:initiation region
Name:RPL26_2
Description:ribosomal protein L26
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22717  EPDNEW_H22716  EPDNEW_H22718  EPDNEW_H22723  EPDNEW_H22719  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38178,377,666 - 8,377,726EPDNEW
RGD ID:7233943
Promoter ID:EPDNEW_H22716
Type:initiation region
Name:RPL26_3
Description:ribosomal protein L26
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22715  EPDNEW_H22717  EPDNEW_H22718  EPDNEW_H22723  EPDNEW_H22719  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38178,379,827 - 8,379,887EPDNEW
RGD ID:7233941
Promoter ID:EPDNEW_H22717
Type:initiation region
Name:RPL26_5
Description:ribosomal protein L26
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22715  EPDNEW_H22716  EPDNEW_H22718  EPDNEW_H22723  EPDNEW_H22719  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38178,382,141 - 8,382,201EPDNEW
RGD ID:7233945
Promoter ID:EPDNEW_H22718
Type:initiation region
Name:RPL26_6
Description:ribosomal protein L26
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22715  EPDNEW_H22717  EPDNEW_H22716  EPDNEW_H22723  EPDNEW_H22719  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38178,382,747 - 8,382,807EPDNEW
RGD ID:7233955
Promoter ID:EPDNEW_H22719
Type:initiation region
Name:RPL26_1
Description:ribosomal protein L26
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22715  EPDNEW_H22717  EPDNEW_H22716  EPDNEW_H22718  EPDNEW_H22723  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38178,383,193 - 8,383,253EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10327 AgrOrtholog
COSMIC RPL26 COSMIC
Ensembl Genes ENSG00000161970 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000578812.5 UniProtKB/TrEMBL
  ENST00000582485.5 UniProtKB/TrEMBL
  ENST00000582556 ENTREZGENE
  ENST00000582556.5 UniProtKB/Swiss-Prot
  ENST00000583011.6 UniProtKB/Swiss-Prot
  ENST00000584164 ENTREZGENE
  ENST00000584164.6 UniProtKB/Swiss-Prot
  ENST00000584343.6 UniProtKB/TrEMBL
  ENST00000584441.5 UniProtKB/TrEMBL
  ENST00000584906.6 UniProtKB/TrEMBL
  ENST00000648839 ENTREZGENE
  ENST00000648839.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.30.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000161970 GTEx
HGNC ID HGNC:10327 ENTREZGENE
Human Proteome Map RPL26 Human Proteome Map
InterPro KOW UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KOW_RPL26/RPL24 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rib_L2_dom2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_L24/26_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_L26/L24P_euk/arc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Translation_prot_SH3-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6154 UniProtKB/Swiss-Prot
NCBI Gene 6154 ENTREZGENE
OMIM 603704 OMIM
PANTHER 60S RIBOSOMAL PROTEIN L26-LIKE 1 UniProtKB/TrEMBL
  KOW DOMAIN-CONTAINING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11143 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam KOW UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ribosomal_L26 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34705 PharmGKB
PROSITE RIBOSOMAL_L24 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART KOW UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50104 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R4F0 ENTREZGENE
  D3DTR8 ENTREZGENE
  J3KS10_HUMAN UniProtKB/TrEMBL
  J3KSS0_HUMAN UniProtKB/TrEMBL
  J3QQV1_HUMAN UniProtKB/TrEMBL
  J3QRC4_HUMAN UniProtKB/TrEMBL
  J3QRI7_HUMAN UniProtKB/TrEMBL
  P61254 ENTREZGENE
  Q02877 ENTREZGENE
  Q6IBH6 ENTREZGENE, UniProtKB/TrEMBL
  Q6IPY2 ENTREZGENE
  RL26_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2R4F0 UniProtKB/Swiss-Prot
  D3DTR8 UniProtKB/Swiss-Prot
  Q02877 UniProtKB/Swiss-Prot
  Q6IPY2 UniProtKB/Swiss-Prot