RBL1 (RB transcriptional corepressor like 1) - Rat Genome Database

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Gene: RBL1 (RB transcriptional corepressor like 1) Homo sapiens
Analyze
Symbol: RBL1
Name: RB transcriptional corepressor like 1
RGD ID: 1313374
HGNC Page HGNC:9893
Description: Enables promoter-specific chromatin binding activity. Involved in negative regulation of cellular senescence and regulation of lipid kinase activity. Acts upstream of or within negative regulation of gene expression. Located in nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 107 kDa retinoblastoma-associated protein; cellular protein 107; CP107; MGC40006; p107; PRB1; retinoblastoma-like 1; retinoblastoma-like 1 (p107); retinoblastoma-like protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382036,996,349 - 37,095,997 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2036,996,349 - 37,095,997 (-)EnsemblGRCh38hg38GRCh38
GRCh372035,624,752 - 35,724,400 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362035,059,592 - 35,157,824 (-)NCBINCBI36Build 36hg18NCBI36
Build 342035,065,390 - 35,157,824NCBI
Celera2032,333,780 - 32,432,015 (-)NCBICelera
Cytogenetic Map20q11.23NCBI
HuRef2032,360,436 - 32,458,763 (-)NCBIHuRef
CHM1_12035,527,068 - 35,627,333 (-)NCBICHM1_1
T2T-CHM13v2.02038,720,692 - 38,820,363 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
(S)-nicotine  (EXP)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
4-hydroxynon-2-enal  (ISO)
4-nitrophenol  (ISO)
5-aza-2'-deoxycytidine  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP,ISO)
alvocidib  (EXP)
amphetamine  (ISO)
antimycin A  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-chloroethyl) sulfide  (EXP,ISO)
bisphenol A  (EXP,ISO)
butanal  (EXP)
caffeine  (EXP)
calcitriol  (EXP)
calyculin a  (EXP)
camptothecin  (EXP)
cannabidiol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cycloheximide  (EXP)
D-mannitol  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
doxorubicin  (EXP)
folic acid  (EXP,ISO)
FR900359  (EXP)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glyphosate  (EXP)
GW 3965  (EXP)
hydralazine  (EXP)
hydrogen peroxide  (EXP)
irinotecan  (EXP)
lamivudine  (EXP)
Lasiocarpine  (EXP)
lidocaine  (ISO)
lipopolysaccharide  (ISO)
LY294002  (ISO)
methotrexate  (EXP)
methoxyacetic acid  (ISO)
methylmercury chloride  (EXP)
monocrotaline  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-nitrosodiethylamine  (ISO)
nicotine  (EXP)
okadaic acid  (EXP)
oxaliplatin  (ISO)
oxybenzone  (EXP)
ozone  (ISO)
palbociclib  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
quercetin  (EXP,ISO)
raloxifene  (EXP)
riddelliine  (EXP)
ritonavir  (EXP)
rotenone  (ISO)
silicon dioxide  (EXP)
silver(1+) nitrate  (EXP)
sirolimus  (EXP)
sodium arsenite  (EXP,ISO)
succimer  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene 2,4-diisocyanate  (ISO)
topotecan  (ISO)
triphenyl phosphate  (EXP)
troglitazone  (EXP)
trovafloxacin  (ISO)
valproic acid  (EXP,ISO)
vincristine  (EXP)
zidovudine  (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
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Mammalian cyclin-dependent kinases. Malumbres M and Barbacid M, Trends Biochem Sci. 2005 Nov;30(11):630-41. Epub 2005 Oct 19.
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
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
Additional References at PubMed
PMID:1331501   PMID:1530885   PMID:1532458   PMID:1833063   PMID:7565695   PMID:7739537   PMID:7760804   PMID:7791762   PMID:7892279   PMID:7935440   PMID:7958924   PMID:7958925  
PMID:8076603   PMID:8230483   PMID:8245034   PMID:8319904   PMID:8386265   PMID:8458319   PMID:8491188   PMID:8553588   PMID:8622916   PMID:8643455   PMID:8657117   PMID:8798463  
PMID:8816797   PMID:8832394   PMID:9233764   PMID:9242374   PMID:9343408   PMID:9372959   PMID:9464541   PMID:9472014   PMID:9501179   PMID:9566894   PMID:9697699   PMID:9710587  
PMID:9721205   PMID:9724724   PMID:9724731   PMID:9747874   PMID:9858615   PMID:9891079   PMID:9927208   PMID:10022926   PMID:10082561   PMID:10330166   PMID:10376528   PMID:10490602  
PMID:10540350   PMID:10766737   PMID:10863094   PMID:11034201   PMID:11313936   PMID:11521194   PMID:11571651   PMID:11573202   PMID:11642725   PMID:11780052   PMID:11799066   PMID:11884610  
PMID:12006580   PMID:12096339   PMID:12150994   PMID:12401786   PMID:12434308   PMID:12439743   PMID:12450794   PMID:12466551   PMID:12477932   PMID:12549820   PMID:12588981   PMID:12621062  
PMID:12947099   PMID:14555653   PMID:14666683   PMID:14671316   PMID:15467457   PMID:15479636   PMID:15489334   PMID:15631990   PMID:15716956   PMID:15735762   PMID:15750587   PMID:15827088  
PMID:15939381   PMID:16061792   PMID:16135806   PMID:16189514   PMID:16286473   PMID:16360038   PMID:16381817   PMID:16537896   PMID:16600870   PMID:16712791   PMID:16943418   PMID:17531812  
PMID:17563750   PMID:17620012   PMID:17620057   PMID:17671431   PMID:18086563   PMID:18418057   PMID:18799622   PMID:19279001   PMID:19453261   PMID:19738611   PMID:20379614   PMID:20453000  
PMID:20663872   PMID:21873635   PMID:21900206   PMID:21903422   PMID:21988832   PMID:22094256   PMID:22157815   PMID:22303805   PMID:22673945   PMID:22729126   PMID:22810586   PMID:22898364  
PMID:23455922   PMID:23602568   PMID:23853093   PMID:25100735   PMID:25429064   PMID:25544563   PMID:25609649   PMID:25798074   PMID:25852190   PMID:25917549   PMID:25921289   PMID:26186194  
PMID:27173435   PMID:27337956   PMID:27567532   PMID:27779109   PMID:28270591   PMID:28289097   PMID:28514442   PMID:28595801   PMID:28786561   PMID:29507755   PMID:30762338   PMID:31753913  
PMID:32203420   PMID:32235678   PMID:32707033   PMID:33422522   PMID:33537097   PMID:33961781   PMID:34661528   PMID:35016035   PMID:35271311   PMID:35337019   PMID:35906200   PMID:36413521  
PMID:36736316   PMID:37689310   PMID:37827155   PMID:38777146  


Genomics

Comparative Map Data
RBL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382036,996,349 - 37,095,997 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2036,996,349 - 37,095,997 (-)EnsemblGRCh38hg38GRCh38
GRCh372035,624,752 - 35,724,400 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362035,059,592 - 35,157,824 (-)NCBINCBI36Build 36hg18NCBI36
Build 342035,065,390 - 35,157,824NCBI
Celera2032,333,780 - 32,432,015 (-)NCBICelera
Cytogenetic Map20q11.23NCBI
HuRef2032,360,436 - 32,458,763 (-)NCBIHuRef
CHM1_12035,527,068 - 35,627,333 (-)NCBICHM1_1
T2T-CHM13v2.02038,720,692 - 38,820,363 (-)NCBIT2T-CHM13v2.0
Rbl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392156,987,813 - 157,046,454 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2156,987,813 - 157,046,454 (-)EnsemblGRCm39 Ensembl
GRCm382157,145,893 - 157,204,534 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2157,145,893 - 157,204,534 (-)EnsemblGRCm38mm10GRCm38
MGSCv372156,971,629 - 157,030,270 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362156,837,339 - 156,895,960 (-)NCBIMGSCv36mm8
Celera2163,079,752 - 163,138,173 (-)NCBICelera
Cytogenetic Map2H1NCBI
cM Map278.05NCBI
Rbl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83166,226,187 - 166,289,862 (-)NCBIGRCr8
mRatBN7.23145,806,160 - 145,869,434 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3145,807,095 - 145,869,330 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3149,633,152 - 149,694,671 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03158,130,942 - 158,195,584 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03155,871,986 - 155,936,707 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03153,263,692 - 153,321,351 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3153,263,692 - 153,321,352 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03158,398,177 - 158,452,482 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43147,734,622 - 147,796,630 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera3144,513,506 - 144,575,032 (-)NCBICelera
Cytogenetic Map3q42NCBI
Rbl1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542224,620,078 - 24,695,229 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542224,620,068 - 24,695,203 (+)NCBIChiLan1.0ChiLan1.0
RBL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22142,730,094 - 42,825,356 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12042,722,411 - 42,818,447 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02033,324,663 - 33,419,891 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12034,442,865 - 34,535,248 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2034,443,203 - 34,534,109 (-)Ensemblpanpan1.1panPan2
RBL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12425,698,313 - 25,757,358 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2425,699,638 - 25,757,229 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2425,346,666 - 25,405,658 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02426,395,755 - 26,454,244 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2426,395,763 - 26,454,227 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12425,673,462 - 25,732,016 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02425,777,693 - 25,836,916 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02426,267,110 - 26,325,939 (-)NCBIUU_Cfam_GSD_1.0
Rbl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640174,589,725 - 174,641,443 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365614,107,861 - 4,157,647 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365614,108,393 - 4,157,993 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RBL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1740,194,950 - 40,279,156 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11740,201,214 - 40,279,318 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21745,641,172 - 45,716,781 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103246453
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1226,593,657 - 26,601,041 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666054222,711 - 309,667 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rbl1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248422,494,911 - 2,563,421 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248422,495,015 - 2,565,220 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RBL1
61 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20q11.22-12(chr20:34541747-39663219)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]|See cases [RCV000052766] Chr20:34541747..39663219 [GRCh38]
Chr20:33129551..38291861 [GRCh37]
Chr20:32593212..37725275 [NCBI36]
Chr20:20q11.22-12		 pathogenic
GRCh38/hg38 20q11.22-13.11(chr20:34249453-43359749)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|See cases [RCV000053002] Chr20:34249453..43359749 [GRCh38]
Chr20:32837259..41988389 [GRCh37]
Chr20:32300920..41421803 [NCBI36]
Chr20:20q11.22-13.11		 pathogenic
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 copy number gain See cases [RCV000052999] Chr20:9811433..39316956 [GRCh38]
Chr20:9792081..37945599 [GRCh37]
Chr20:9740081..37379013 [NCBI36]
Chr20:20p12.2-q12		 pathogenic
NM_002895.3(RBL1):c.1500C>T (p.Ser500=) single nucleotide variant Malignant melanoma [RCV000063723] Chr20:37047158 [GRCh38]
Chr20:35675561 [GRCh37]
Chr20:35108975 [NCBI36]
Chr20:20q11.23		 not provided
NM_002895.3(RBL1):c.1499C>T (p.Ser500Phe) single nucleotide variant Malignant melanoma [RCV000063724] Chr20:37047159 [GRCh38]
Chr20:35675562 [GRCh37]
Chr20:35108976 [NCBI36]
Chr20:20q11.23		 not provided
NM_002895.3(RBL1):c.409A>C (p.Lys137Gln) single nucleotide variant Malignant melanoma [RCV000063725] Chr20:37068068 [GRCh38]
Chr20:35696471 [GRCh37]
Chr20:35129885 [NCBI36]
Chr20:20q11.23		 not provided
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 copy number loss See cases [RCV000140816] Chr20:35237946..47631818 [GRCh38]
Chr20:33825749..46260562 [GRCh37]
Chr20:33289165..45693969 [NCBI36]
Chr20:20q11.22-13.12		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_002895.5(RBL1):c.146A>G (p.Tyr49Cys) single nucleotide variant not specified [RCV004313238] Chr20:37095783 [GRCh38]
Chr20:35724186 [GRCh37]
Chr20:20q11.23		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_002895.5(RBL1):c.2745A>T (p.Thr915=) single nucleotide variant not provided [RCV000903913] Chr20:37007537 [GRCh38]
Chr20:35635940 [GRCh37]
Chr20:20q11.23		 benign
NM_002895.5(RBL1):c.1559C>G (p.Pro520Arg) single nucleotide variant not provided [RCV000895129] Chr20:37047099 [GRCh38]
Chr20:35675502 [GRCh37]
Chr20:20q11.23		 benign
NM_002895.5(RBL1):c.1756C>T (p.Pro586Ser) single nucleotide variant not specified [RCV004300303] Chr20:37044100 [GRCh38]
Chr20:35672503 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.2170+6G>A single nucleotide variant not provided [RCV000903914] Chr20:37035236 [GRCh38]
Chr20:35663639 [GRCh37]
Chr20:20q11.23		 likely benign
Single allele deletion Focal-onset seizure [RCV001004039] Chr20:34980430..46806549 [GRCh37]
Chr20:20q11.23-13.13		 likely pathogenic
NC_000020.10:g.(?_35569422)_(36500415_?)dup duplication Aicardi-Goutieres syndrome 5 [RCV003119602]|Congenital disorder of glycosylation [RCV004579604] Chr20:35569422..36500415 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.128C>T (p.Thr43Ile) single nucleotide variant not specified [RCV004317517] Chr20:37095801 [GRCh38]
Chr20:35724204 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.1495C>T (p.Arg499Cys) single nucleotide variant not specified [RCV004186012] Chr20:37047163 [GRCh38]
Chr20:35675566 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.1840A>G (p.Met614Val) single nucleotide variant not specified [RCV004185483] Chr20:37040216 [GRCh38]
Chr20:35668619 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.2473G>A (p.Glu825Lys) single nucleotide variant not specified [RCV004124820] Chr20:37022736 [GRCh38]
Chr20:35651139 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.2671G>T (p.Val891Phe) single nucleotide variant not specified [RCV004109798] Chr20:37018330 [GRCh38]
Chr20:35646733 [GRCh37]
Chr20:20q11.23		 likely benign
NM_002895.5(RBL1):c.1652T>C (p.Met551Thr) single nucleotide variant not specified [RCV004083127] Chr20:37044204 [GRCh38]
Chr20:35672607 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.686G>T (p.Gly229Val) single nucleotide variant not specified [RCV004113773] Chr20:37066884 [GRCh38]
Chr20:35695287 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.3161T>C (p.Leu1054Ser) single nucleotide variant not specified [RCV004144962] Chr20:36998805 [GRCh38]
Chr20:35627208 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.976G>A (p.Ala326Thr) single nucleotide variant not specified [RCV004148463] Chr20:37062191 [GRCh38]
Chr20:35690594 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.1587A>C (p.Gln529His) single nucleotide variant not specified [RCV004191774] Chr20:37047071 [GRCh38]
Chr20:35675474 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.21C>A (p.His7Gln) single nucleotide variant not specified [RCV004130510] Chr20:37095908 [GRCh38]
Chr20:35724311 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.452A>G (p.Tyr151Cys) single nucleotide variant not specified [RCV004118371] Chr20:37068025 [GRCh38]
Chr20:35696428 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.2033G>A (p.Gly678Glu) single nucleotide variant not specified [RCV004234161] Chr20:37035379 [GRCh38]
Chr20:35663782 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.1898G>A (p.Arg633Gln) single nucleotide variant not specified [RCV004117644] Chr20:37040158 [GRCh38]
Chr20:35668561 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.871G>A (p.Asp291Asn) single nucleotide variant not specified [RCV004100683] Chr20:37065449 [GRCh38]
Chr20:35693852 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.881G>C (p.Ser294Thr) single nucleotide variant not specified [RCV004187041] Chr20:37065439 [GRCh38]
Chr20:35693842 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.113C>T (p.Ala38Val) single nucleotide variant not specified [RCV004095972] Chr20:37095816 [GRCh38]
Chr20:35724219 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.566G>A (p.Arg189Gln) single nucleotide variant not specified [RCV004099200] Chr20:37067112 [GRCh38]
Chr20:35695515 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.1060A>G (p.Asn354Asp) single nucleotide variant not specified [RCV004105357] Chr20:37062107 [GRCh38]
Chr20:35690510 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.145T>C (p.Tyr49His) single nucleotide variant not specified [RCV004319644] Chr20:37095784 [GRCh38]
Chr20:35724187 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.2122G>A (p.Ala708Thr) single nucleotide variant not specified [RCV004278016] Chr20:37035290 [GRCh38]
Chr20:35663693 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.2560G>A (p.Val854Ile) single nucleotide variant not specified [RCV004250496] Chr20:37020730 [GRCh38]
Chr20:35649133 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.1487T>A (p.Ile496Lys) single nucleotide variant not specified [RCV004255263] Chr20:37047171 [GRCh38]
Chr20:35675574 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.1792G>A (p.Glu598Lys) single nucleotide variant not specified [RCV004261169] Chr20:37040264 [GRCh38]
Chr20:35668667 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.209G>T (p.Ser70Ile) single nucleotide variant not specified [RCV004260203] Chr20:37089070 [GRCh38]
Chr20:35717473 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.2144G>A (p.Gly715Glu) single nucleotide variant not specified [RCV004290629] Chr20:37035268 [GRCh38]
Chr20:35663671 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.2593A>T (p.Met865Leu) single nucleotide variant not specified [RCV004348776] Chr20:37020697 [GRCh38]
Chr20:35649100 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.422C>T (p.Pro141Leu) single nucleotide variant not specified [RCV004364992] Chr20:37068055 [GRCh38]
Chr20:35696458 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.727G>A (p.Glu243Lys) single nucleotide variant not specified [RCV004339831] Chr20:37066843 [GRCh38]
Chr20:35695246 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.2192A>C (p.Glu731Ala) single nucleotide variant not specified [RCV004355939] Chr20:37032855 [GRCh38]
Chr20:35661258 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.436A>G (p.Ile146Val) single nucleotide variant not specified [RCV004335150] Chr20:37068041 [GRCh38]
Chr20:35696444 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.1285A>G (p.Lys429Glu) single nucleotide variant not specified [RCV004441059] Chr20:37056224 [GRCh38]
Chr20:35684627 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.1508C>T (p.Ala503Val) single nucleotide variant not specified [RCV004441060] Chr20:37047150 [GRCh38]
Chr20:35675553 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.1738G>T (p.Val580Phe) single nucleotide variant not specified [RCV004441061] Chr20:37044118 [GRCh38]
Chr20:35672521 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.232G>T (p.Gly78Cys) single nucleotide variant not specified [RCV004441065] Chr20:37089047 [GRCh38]
Chr20:35717450 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.2212T>G (p.Ser738Ala) single nucleotide variant not specified [RCV004441064] Chr20:37032835 [GRCh38]
Chr20:35661238 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.1262G>A (p.Arg421His) single nucleotide variant not specified [RCV004441058] Chr20:37056247 [GRCh38]
Chr20:35684650 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.2461T>C (p.Trp821Arg) single nucleotide variant not specified [RCV004441066] Chr20:37022748 [GRCh38]
Chr20:35651151 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.2158A>G (p.Ile720Val) single nucleotide variant not specified [RCV004441062] Chr20:37035254 [GRCh38]
Chr20:35663657 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.2182G>A (p.Asp728Asn) single nucleotide variant not specified [RCV004441063] Chr20:37032865 [GRCh38]
Chr20:35661268 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.3134G>A (p.Arg1045His) single nucleotide variant not specified [RCV004660748] Chr20:36998832 [GRCh38]
Chr20:35627235 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.1725G>C (p.Trp575Cys) single nucleotide variant not specified [RCV004660750] Chr20:37044131 [GRCh38]
Chr20:35672534 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.2306C>T (p.Thr769Ile) single nucleotide variant not specified [RCV004660749] Chr20:37032741 [GRCh38]
Chr20:35661144 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.975C>G (p.Asp325Glu) single nucleotide variant not specified [RCV004660751] Chr20:37062192 [GRCh38]
Chr20:35690595 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.2396C>A (p.Ala799Glu) single nucleotide variant not specified [RCV004660747] Chr20:37022813 [GRCh38]
Chr20:35651216 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.1829C>T (p.Pro610Leu) single nucleotide variant not specified [RCV004660752] Chr20:37040227 [GRCh38]
Chr20:35668630 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_002895.5(RBL1):c.430T>G (p.Leu144Val) single nucleotide variant not specified [RCV004660746] Chr20:37068047 [GRCh38]
Chr20:35696450 [GRCh37]
Chr20:20q11.23		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1625
Count of miRNA genes:746
Interacting mature miRNAs:856
Transcripts:ENST00000344359, ENST00000373664, ENST00000525052, ENST00000527999
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
407049537GWAS698513_Hbody height QTL GWAS698513 (human)9e-12body height (VT:0001253)body height (CMO:0000106)203700899537008996Human
407116615GWAS765591_Hmean corpuscular volume QTL GWAS765591 (human)3e-15mean corpuscular volumemean corpuscular volume (CMO:0000038)203704710937047110Human
406955207GWAS604183_Hpulmonary tuberculosis QTL GWAS604183 (human)0.0000004pulmonary tuberculosis203700589437005895Human
407201677GWAS850653_Herythrocyte count QTL GWAS850653 (human)4e-09erythrocyte countred blood cell count (CMO:0000025)203706806337068064Human
406994571GWAS643547_Hmean corpuscular volume QTL GWAS643547 (human)6e-24mean corpuscular volumemean corpuscular volume (CMO:0000038)203704710937047110Human
407334999GWAS983975_Hmean corpuscular hemoglobin QTL GWAS983975 (human)4e-13mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)203704710937047110Human
406996563GWAS645539_Hmean corpuscular hemoglobin concentration QTL GWAS645539 (human)5e-19mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)203704710937047110Human
407200093GWAS849069_Hmean corpuscular volume QTL GWAS849069 (human)4e-20mean corpuscular volumemean corpuscular volume (CMO:0000038)203704710937047110Human
407200094GWAS849070_Hmean corpuscular volume QTL GWAS849070 (human)2e-09mean corpuscular volumemean corpuscular volume (CMO:0000038)203706806337068064Human
406999326GWAS648302_Hmean corpuscular volume QTL GWAS648302 (human)4e-22reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)203704710937047110Human
407405033GWAS1054009_Hobsolete_red blood cell distribution width QTL GWAS1054009 (human)7e-39obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)203701554337015544Human
407031648GWAS680624_Hmean corpuscular volume QTL GWAS680624 (human)3e-18mean corpuscular volumemean corpuscular volume (CMO:0000038)203704710937047110Human
406991008GWAS639984_Hmean corpuscular hemoglobin concentration QTL GWAS639984 (human)1e-20mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)203704710937047110Human
406955938GWAS604914_Htuberculosis QTL GWAS604914 (human)0.000002tuberculosis203700589437005895Human
406954978GWAS603954_Htuberculosis QTL GWAS603954 (human)2e-10tuberculosis203700589437005895Human
407034026GWAS683002_Hmean reticulocyte volume QTL GWAS683002 (human)8e-14reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)203704710937047110Human
407087338GWAS736314_Hobsolete_red blood cell distribution width QTL GWAS736314 (human)1e-09obsolete_red blood cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)203702586737025868Human
407199790GWAS848766_Hmean reticulocyte volume QTL GWAS848766 (human)1e-12reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)203706806337068064Human
407005678GWAS654654_Hmean corpuscular hemoglobin QTL GWAS654654 (human)2e-15mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)203704710937047110Human
407338870GWAS987846_Hmean corpuscular volume QTL GWAS987846 (human)5e-15mean corpuscular volumemean corpuscular volume (CMO:0000038)203704710937047110Human
407018032GWAS667008_Hbody height QTL GWAS667008 (human)1e-32body height (VT:0001253)body height (CMO:0000106)203704467937044680Human
1300007BP29_HBlood pressure QTL 29 (human)Blood pressurehypertension susceptibility203653600562536005Human
407202493GWAS851469_Hmean corpuscular volume QTL GWAS851469 (human)6e-25mean corpuscular volumemean corpuscular volume (CMO:0000038)203704710937047110Human
407202235GWAS851211_Hmean corpuscular hemoglobin concentration QTL GWAS851211 (human)2e-13mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)203706806337068064Human
407202234GWAS851210_Hmean corpuscular hemoglobin concentration QTL GWAS851210 (human)2e-18mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)203704710937047110Human
407201658GWAS850634_Hmean corpuscular volume QTL GWAS850634 (human)2e-15mean corpuscular volumemean corpuscular volume (CMO:0000038)203706806337068064Human

Markers in Region
D20S823  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372035,635,821 - 35,635,997UniSTSGRCh37
Build 362035,069,235 - 35,069,411RGDNCBI36
Celera2032,343,421 - 32,343,597RGD
Cytogenetic Map20q11.2UniSTS
HuRef2032,370,338 - 32,370,514UniSTS
Stanford-G3 RH Map201944.0UniSTS
NCBI RH Map20321.2UniSTS
G15936  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372035,626,563 - 35,626,710UniSTSGRCh37
Build 362035,059,977 - 35,060,124RGDNCBI36
Celera2032,334,165 - 32,334,312RGD
Cytogenetic Map20q11.2UniSTS
HuRef2032,362,247 - 32,362,394UniSTS
stdJ621N11SP6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372035,718,869 - 35,719,011UniSTSGRCh37
Build 362035,152,283 - 35,152,425RGDNCBI36
Celera2032,426,474 - 32,426,616RGD
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20q11.2UniSTS
HuRef2032,453,229 - 32,453,371UniSTS
PMC126057P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372035,724,366 - 35,724,564UniSTSGRCh37
Build 362035,157,780 - 35,157,978RGDNCBI36
Celera2032,431,971 - 32,432,169RGD
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20q11.2UniSTS
HuRef2032,458,726 - 32,458,924UniSTS
PMC152552P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372035,724,306 - 35,724,466UniSTSGRCh37
Build 362035,157,720 - 35,157,880RGDNCBI36
Celera2032,431,911 - 32,432,071RGD
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20q11.2UniSTS
HuRef2032,458,666 - 32,458,826UniSTS
SGC35236  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372035,626,945 - 35,627,145UniSTSGRCh37
Build 362035,060,359 - 35,060,559RGDNCBI36
Celera2032,334,547 - 32,334,747RGD
Cytogenetic Map20q11.2UniSTS
HuRef2032,362,629 - 32,362,829UniSTS
Whitehead-RH Map20232.8UniSTS
STS-H85528  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372035,647,614 - 35,647,755UniSTSGRCh37
Build 362035,081,028 - 35,081,169RGDNCBI36
Celera2032,355,215 - 32,355,356RGD
Cytogenetic Map20q11.2UniSTS
HuRef2032,382,058 - 32,382,199UniSTS
GeneMap99-GB4 RH Map20209.07UniSTS
NCBI RH Map20309.5UniSTS
RBL1_3855  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372035,626,023 - 35,626,593UniSTSGRCh37
Build 362035,059,437 - 35,060,007RGDNCBI36
Celera2032,333,625 - 32,334,195RGD
HuRef2032,361,707 - 32,362,277UniSTS
D11S2560  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map20q11.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6p24UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map14q32.32UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q11UniSTS
RH17622  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map20q11.2UniSTS
GeneMap99-GB4 RH Map20209.07UniSTS
NCBI RH Map20309.1UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 623 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001323281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_183404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006723842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK290380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL365505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL391114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ004524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB115117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC375054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L14812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M74547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S78664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000344359   ⟹   ENSP00000343646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2037,003,574 - 37,095,989 (-)Ensembl
Ensembl Acc Id: ENST00000373664   ⟹   ENSP00000362768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2036,996,349 - 37,095,997 (-)Ensembl
Ensembl Acc Id: ENST00000525052   ⟹   ENSP00000434711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2037,056,160 - 37,068,055 (-)Ensembl
Ensembl Acc Id: ENST00000527999   ⟹   ENSP00000437240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2037,068,087 - 37,095,995 (-)Ensembl
RefSeq Acc Id: NM_001323281   ⟹   NP_001310210
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,996,349 - 37,095,997 (-)NCBI
CHM1_12035,527,068 - 35,627,548 (-)NCBI
T2T-CHM13v2.02038,720,692 - 38,820,363 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001323282   ⟹   NP_001310211
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,996,349 - 37,095,997 (-)NCBI
CHM1_12035,527,068 - 35,627,548 (-)NCBI
T2T-CHM13v2.02038,720,692 - 38,820,363 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002895   ⟹   NP_002886
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,996,349 - 37,095,997 (-)NCBI
GRCh372035,624,752 - 35,724,403 (-)NCBI
Build 362035,059,592 - 35,157,824 (-)NCBI Archive
HuRef2032,360,436 - 32,458,763 (-)NCBI
CHM1_12035,527,068 - 35,627,548 (-)NCBI
T2T-CHM13v2.02038,720,692 - 38,820,363 (-)NCBI
Sequence:
RefSeq Acc Id: NM_183404   ⟹   NP_899662
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382037,003,574 - 37,095,997 (-)NCBI
GRCh372035,624,752 - 35,724,403 (-)NCBI
Build 362035,065,391 - 35,157,824 (-)NCBI Archive
HuRef2032,360,436 - 32,458,763 (-)NCBI
CHM1_12035,534,299 - 35,627,548 (-)NCBI
T2T-CHM13v2.02038,727,918 - 38,820,363 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047440348   ⟹   XP_047296304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,996,349 - 37,095,997 (-)NCBI
RefSeq Acc Id: XM_047440349   ⟹   XP_047296305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382036,996,349 - 37,082,029 (-)NCBI
RefSeq Acc Id: XM_047440350   ⟹   XP_047296306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382037,022,646 - 37,095,997 (-)NCBI
RefSeq Acc Id: XM_054323789   ⟹   XP_054179764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02038,720,692 - 38,820,363 (-)NCBI
RefSeq Acc Id: XM_054323790   ⟹   XP_054179765
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02038,720,692 - 38,806,393 (-)NCBI
RefSeq Acc Id: XM_054323791   ⟹   XP_054179766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02038,720,692 - 38,806,393 (-)NCBI
RefSeq Acc Id: XM_054323792   ⟹   XP_054179767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02038,746,998 - 38,820,363 (-)NCBI
RefSeq Acc Id: NP_002886   ⟸   NM_002895
- Peptide Label: isoform a
- UniProtKB: Q9H1L5 (UniProtKB/Swiss-Prot),   Q8N5K6 (UniProtKB/Swiss-Prot),   Q4VXA0 (UniProtKB/Swiss-Prot),   A8K2W5 (UniProtKB/Swiss-Prot),   Q9H1M1 (UniProtKB/Swiss-Prot),   P28749 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_899662   ⟸   NM_183404
- Peptide Label: isoform b
- UniProtKB: P28749 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310210   ⟸   NM_001323281
- Peptide Label: isoform c
- Sequence:
RefSeq Acc Id: NP_001310211   ⟸   NM_001323282
- Peptide Label: isoform c
- Sequence:
Ensembl Acc Id: ENSP00000362768   ⟸   ENST00000373664
Ensembl Acc Id: ENSP00000434711   ⟸   ENST00000525052
Ensembl Acc Id: ENSP00000437240   ⟸   ENST00000527999
Ensembl Acc Id: ENSP00000343646   ⟸   ENST00000344359
RefSeq Acc Id: XP_047296304   ⟸   XM_047440348
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047296305   ⟸   XM_047440349
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047296306   ⟸   XM_047440350
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054179764   ⟸   XM_054323789
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054179766   ⟸   XM_054323791
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054179765   ⟸   XM_054323790
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054179767   ⟸   XM_054323792
- Peptide Label: isoform X3
Protein Domains
Retinoblastoma-associated protein A-box

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P28749-F1-model_v2 AlphaFold P28749 1-1068 view protein structure

Promoters
RGD ID:6798935
Promoter ID:HG_KWN:39323
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_183404,   OTTHUMT00000079067,   UC010GFV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362035,157,471 - 35,157,971 (-)MPROMDB
RGD ID:13206867
Promoter ID:EPDNEW_H27014
Type:initiation region
Name:RBL1_1
Description:RB transcriptional corepressor like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27015  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382037,095,997 - 37,096,057EPDNEW
RGD ID:13206869
Promoter ID:EPDNEW_H27015
Type:initiation region
Name:RBL1_2
Description:RB transcriptional corepressor like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27014  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382037,096,215 - 37,096,275EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9893 AgrOrtholog
COSMIC RBL1 COSMIC
Ensembl Genes ENSG00000080839 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000344359 ENTREZGENE
  ENST00000344359.7 UniProtKB/Swiss-Prot
  ENST00000373664 ENTREZGENE
  ENST00000373664.8 UniProtKB/Swiss-Prot
  ENST00000525052.1 UniProtKB/TrEMBL
  ENST00000527999.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.472.140 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyclin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000080839 GTEx
HGNC ID HGNC:9893 ENTREZGENE
Human Proteome Map RBL1 Human Proteome Map
InterPro Cyclin-like UniProtKB/Swiss-Prot
  Cyclin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RB_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RB_B UniProtKB/Swiss-Prot
  RB_C UniProtKB/Swiss-Prot
  RB_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RB_N UniProtKB/Swiss-Prot
KEGG Report hsa:5933 UniProtKB/Swiss-Prot
NCBI Gene 5933 ENTREZGENE
OMIM 116957 OMIM
PANTHER PTHR13742 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13742:SF20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF3452 UniProtKB/Swiss-Prot
  RB_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RB_B UniProtKB/Swiss-Prot
  Rb_C UniProtKB/Swiss-Prot
PharmGKB PA34257 PharmGKB
SMART CYCLIN UniProtKB/Swiss-Prot
  DUF3452 UniProtKB/Swiss-Prot
  RB_A UniProtKB/Swiss-Prot
  Rb_C UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47954 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K2W5 ENTREZGENE
  E9PNB6_HUMAN UniProtKB/TrEMBL
  H0YE05_HUMAN UniProtKB/TrEMBL
  P28749 ENTREZGENE
  Q4VXA0 ENTREZGENE
  Q8N5K6 ENTREZGENE
  Q8WVU8_HUMAN UniProtKB/TrEMBL
  Q9H1L5 ENTREZGENE
  Q9H1M1 ENTREZGENE
  RBL1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K2W5 UniProtKB/Swiss-Prot
  Q4VXA0 UniProtKB/Swiss-Prot
  Q8N5K6 UniProtKB/Swiss-Prot
  Q9H1L5 UniProtKB/Swiss-Prot
  Q9H1M1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-31 RBL1  RB transcriptional corepressor like 1  RBL1  retinoblastoma-like 1  Symbol and/or name change 5135510 APPROVED
2014-03-19 RBL1  retinoblastoma-like 1  RBL1  retinoblastoma-like 1 (p107)  Symbol and/or name change 5135510 APPROVED