RBPJ (recombination signal binding protein for immunoglobulin kappa J region) - Rat Genome Database

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Gene: RBPJ (recombination signal binding protein for immunoglobulin kappa J region) Homo sapiens
Analyze
Symbol: RBPJ
Name: recombination signal binding protein for immunoglobulin kappa J region
RGD ID: 1321529
HGNC Page HGNC:5724
Description: Enables DNA-binding transcription activator activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in Notch signaling involved in heart development and regulation of transcription by RNA polymerase II. Located in cytoplasm; nucleolus; and nucleoplasm. Part of MAML1-RBP-Jkappa- ICN1 complex and transcription repressor complex. Implicated in Adams-Oliver syndrome and dilated cardiomyopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AOS3; CBF-1; CBF1; csl; H-2K binding factor-2; IGKJRB; IGKJRB1; immunoglobulin kappa J region recombination signal binding protein 1; j kappa-recombination signal-binding protein; KBF2; MGC61669; RBP-J; RBP-J kappa; RBP-JK; RBPJK; RBPSUH; recombining binding protein suppressor of hairless; recombining binding protein suppressor of hairless (drosophila); renal carcinoma antigen NY-REN-30; SUH; suppressor of hairless homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: RBPJP1   RBPJP2   RBPJP3   RBPJP4   RBPJP5   RBPJP6   RBPJP7  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38426,105,449 - 26,435,131 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl426,163,455 - 26,435,131 (+)EnsemblGRCh38hg38GRCh38
GRCh37426,165,080 - 26,436,753 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36425,930,430 - 26,042,376 (+)NCBINCBI36hg18NCBI36
Celera426,771,681 - 26,884,040 (+)NCBI
Cytogenetic Map4p15.2NCBI
HuRef425,659,979 - 25,775,063 (+)NCBIHuRef
CHM1_1426,322,549 - 26,437,875 (+)NCBICHM1_1
T2T-CHM13v2.0426,145,652 - 26,420,111 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-alpha-phellandrene  (EXP)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-diaminotoluene  (ISO)
3-methylcholanthrene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
acetylleucyl-leucyl-norleucinal  (EXP)
acrylamide  (ISO)
all-trans-retinoic acid  (EXP)
alpha-phellandrene  (EXP)
ammonium chloride  (EXP,ISO)
antirheumatic drug  (EXP)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (ISO)
butanal  (EXP)
cadmium dichloride  (ISO)
CGP 52608  (EXP)
chloroquine  (EXP)
cisplatin  (EXP)
cobalt dichloride  (EXP)
cycloheximide  (EXP)
DAPT  (EXP,ISO)
decabromodiphenyl ether  (ISO)
dicrotophos  (EXP)
dioxygen  (ISO)
disodium selenite  (EXP)
enzalutamide  (EXP)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
glyphosate  (EXP)
hydrogen peroxide  (EXP)
ionomycin  (EXP)
irinotecan  (EXP)
lactacystin  (EXP)
lead diacetate  (ISO)
menadione  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP,ISO)
nickel sulfate  (EXP)
oxaliplatin  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
quercetin  (ISO)
rimonabant  (ISO)
SB 203580  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (EXP)
Soman  (ISO)
sunitinib  (EXP)
thimerosal  (ISO)
thioacetamide  (ISO)
topotecan  (ISO)
triptonide  (EXP)
troglitazone  (ISO)
valproic acid  (EXP)
zinc dichloride  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
angiogenesis  (IEA,ISO,ISS)
aortic valve development  (IEA)
arterial endothelial cell fate commitment  (IEA)
artery morphogenesis  (IEA,ISO)
atrioventricular canal development  (IEA,ISS)
auditory receptor cell fate commitment  (IEA,ISO)
B cell differentiation  (IEA,ISO)
blood vessel endothelial cell fate specification  (IEA,ISS)
blood vessel lumenization  (IEA,ISS)
blood vessel remodeling  (IEA)
cardiac left ventricle morphogenesis  (IEA,ISS)
cardiac muscle cell myoblast differentiation  (IEA,ISS)
cell differentiation  (IEA,ISO)
cell fate commitment  (IEA,ISO)
cell population proliferation  (IEA,ISO)
club cell differentiation  (IEA,ISO)
defense response to bacterium  (IEA,ISO)
dorsal aorta morphogenesis  (IEA,ISS)
endocardium development  (IEA)
endocardium morphogenesis  (IEA,ISS)
epidermal cell fate specification  (IEA,ISO)
epithelial cell proliferation  (IEA,ISO)
epithelial to mesenchymal transition  (IEA,ISO,ISS)
epithelial to mesenchymal transition involved in endocardial cushion formation  (IEA,ISS)
hair follicle maturation  (IEA,ISO)
heart development  (IEA,ISO)
hemopoiesis  (IEA,ISO)
humoral immune response  (IEA,ISO)
inflammatory response to antigenic stimulus  (IEA,ISO)
keratinocyte differentiation  (IEA,ISO)
labyrinthine layer blood vessel development  (IEA,ISS)
myeloid dendritic cell differentiation  (IEA,ISO)
negative regulation of cell differentiation  (IEA,ISO)
negative regulation of cell population proliferation  (IEA)
negative regulation of cold-induced thermogenesis  (IEA,ISS)
negative regulation of DNA-templated transcription  (IDA,IEA,ISO)
negative regulation of neuron projection development  (ISO)
negative regulation of ossification  (IEA,ISS)
negative regulation of smooth muscle cell apoptotic process  (ISO)
negative regulation of smooth muscle cell migration  (ISO)
negative regulation of stem cell proliferation  (IEA,ISO)
negative regulation of transcription by RNA polymerase II  (IEA,IMP,ISS)
neuron differentiation  (IEA,ISO)
Notch signaling involved in heart development  (IC,IMP)
Notch signaling pathway  (IBA,IEA,IMP,ISO)
obsolete regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation  (ISS)
outflow tract morphogenesis  (IEA,ISS)
pituitary gland development  (IEA,ISO)
positive regulation of BMP signaling pathway  (IEA,ISS)
positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment  (IEA,ISO)
positive regulation of cardiac muscle cell proliferation  (IEA,ISS)
positive regulation of cell proliferation involved in heart morphogenesis  (IEA,ISS)
positive regulation of DNA-templated transcription  (ISO)
positive regulation of ephrin receptor signaling pathway  (IEA,ISS)
positive regulation of epithelial cell proliferation  (IEA,ISO)
positive regulation of ERBB signaling pathway  (IEA,ISS)
positive regulation of gene expression  (IEA,ISO,ISS)
positive regulation of smooth muscle cell proliferation  (ISO)
positive regulation of transcription by RNA polymerase II  (IEA,IMP)
positive regulation of transcription from RNA polymerase II promoter in response to hypoxia  (IDA)
positive regulation of transcription of Notch receptor target  (IDA,IEA,ISO)
pulmonary valve development  (IEA)
regulation of DNA-templated transcription  (IEA)
regulation of epithelial cell proliferation  (IEA,ISO)
regulation of gene expression  (IEA,ISO)
regulation of reproductive process  (IEA,ISO)
regulation of timing of cell differentiation  (IEA,ISO)
regulation of transcription by RNA polymerase II  (IEA,ISO,ISS)
sebaceous gland development  (IEA,ISO)
secondary heart field specification  (IEA,ISO)
somatic stem cell population maintenance  (IEA,ISO)
somitogenesis  (IEA,ISO)
stem cell proliferation  (IEA,ISO)
ventricular septum morphogenesis  (IEA)
ventricular trabecula myocardium morphogenesis  (IEA,ISS)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Notch signaling pathway  (EXP,IEA,ISO,TAS)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Cell and molecular biology of Notch. Fiuza UM and Arias AM, J Endocrinol. 2007 Sep;194(3):459-74.
2. Enhanced expression and autoimmunity of recombination signal binding protein-jkappa in human dilated cardiomyopathy. Nickenig G, etal., Biochem Biophys Res Commun. 1999 Dec 20;266(2):432-6.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. Notch 1 and 3 receptor signaling modulates vascular smooth muscle cell growth, apoptosis, and migration via a CBF-1/RBP-Jk dependent pathway. Sweeney C, etal., FASEB J. 2004 Sep;18(12):1421-3. Epub 2004 Jul 9.
Additional References at PubMed
PMID:2556644   PMID:7625272   PMID:7651391   PMID:8406481   PMID:8627785   PMID:8676443   PMID:8749394   PMID:8889548   PMID:8895530   PMID:9032325   PMID:9111040   PMID:9290259  
PMID:9694793   PMID:9874765   PMID:10508479   PMID:10637481   PMID:10644367   PMID:10708423   PMID:10713164   PMID:10747963   PMID:11390662   PMID:11404076   PMID:11509665   PMID:11518718  
PMID:11748221   PMID:11997524   PMID:12370315   PMID:12374742   PMID:12477932   PMID:12644465   PMID:12832621   PMID:14570916   PMID:14611647   PMID:14645224   PMID:14701863   PMID:14702039  
PMID:14999091   PMID:15187023   PMID:15194757   PMID:15489334   PMID:15546612   PMID:15710417   PMID:15987768   PMID:16287852   PMID:16354684   PMID:16378632   PMID:16399505   PMID:16439682  
PMID:16510869   PMID:16530044   PMID:16682003   PMID:16691198   PMID:16763620   PMID:16873269   PMID:17055026   PMID:17070841   PMID:17245125   PMID:17284587   PMID:17434929   PMID:17513037  
PMID:17513780   PMID:17526737   PMID:17573339   PMID:17636029   PMID:18155729   PMID:18239137   PMID:18332109   PMID:18663143   PMID:19147558   PMID:19237563   PMID:19240061   PMID:19247952  
PMID:19274049   PMID:19321451   PMID:19322201   PMID:19487031   PMID:19503073   PMID:19776126   PMID:19800882   PMID:19838210   PMID:19866488   PMID:19939918   PMID:19969318   PMID:20006367  
PMID:20028974   PMID:20231316   PMID:20346360   PMID:20379614   PMID:20453842   PMID:20511547   PMID:20890042   PMID:21102556   PMID:21150319   PMID:21311046   PMID:21440926   PMID:21475249  
PMID:21507979   PMID:21518914   PMID:21558417   PMID:21737748   PMID:21820430   PMID:21832049   PMID:21873635   PMID:21880753   PMID:21900206   PMID:21988832   PMID:21991380   PMID:22100894  
PMID:22143792   PMID:22253595   PMID:22279058   PMID:22279105   PMID:22302987   PMID:22325781   PMID:22366521   PMID:22379092   PMID:22792167   PMID:22810586   PMID:22883147   PMID:22915591  
PMID:23022380   PMID:23103515   PMID:23303788   PMID:23365452   PMID:23696732   PMID:23775085   PMID:24068939   PMID:24449572   PMID:24549417   PMID:24684754   PMID:24696491   PMID:24952875  
PMID:25014791   PMID:25038826   PMID:25277244   PMID:25281560   PMID:25324571   PMID:25355311   PMID:25356737   PMID:25445601   PMID:25512468   PMID:25589461   PMID:25609649   PMID:26033182  
PMID:26108681   PMID:26186194   PMID:26202358   PMID:26302407   PMID:26496610   PMID:26496776   PMID:26522984   PMID:26604133   PMID:26655998   PMID:26673895   PMID:26719268   PMID:26735629  
PMID:26760575   PMID:27066863   PMID:27077170   PMID:27163456   PMID:27322055   PMID:27466498   PMID:27489358   PMID:27634302   PMID:27794430   PMID:27926858   PMID:28174252   PMID:28487372  
PMID:28514442   PMID:28571041   PMID:28805822   PMID:28877478   PMID:29030483   PMID:29242273   PMID:29509190   PMID:29757189   PMID:29844126   PMID:29931229   PMID:29971915   PMID:30030832  
PMID:30061220   PMID:30075508   PMID:30157580   PMID:30213224   PMID:30231994   PMID:30254149   PMID:30419336   PMID:30642633   PMID:30804502   PMID:30856484   PMID:30948266   PMID:30967258  
PMID:30975888   PMID:31467287   PMID:31871319   PMID:32130980   PMID:32271392   PMID:32460013   PMID:32567455   PMID:32961937   PMID:33034023   PMID:33311552   PMID:33387451   PMID:33389283  
PMID:33640491   PMID:33961781   PMID:34079125   PMID:34655278   PMID:35140242   PMID:35509820   PMID:35844785  


Genomics

Comparative Map Data
RBPJ
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38426,105,449 - 26,435,131 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl426,163,455 - 26,435,131 (+)EnsemblGRCh38hg38GRCh38
GRCh37426,165,080 - 26,436,753 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36425,930,430 - 26,042,376 (+)NCBINCBI36hg18NCBI36
Celera426,771,681 - 26,884,040 (+)NCBI
Cytogenetic Map4p15.2NCBI
HuRef425,659,979 - 25,775,063 (+)NCBIHuRef
CHM1_1426,322,549 - 26,437,875 (+)NCBICHM1_1
T2T-CHM13v2.0426,145,652 - 26,420,111 (+)NCBI
Rbpj
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39553,713,121 - 53,814,787 (+)NCBIGRCm39mm39
GRCm39 Ensembl553,623,494 - 53,814,704 (+)Ensembl
GRCm38553,555,779 - 53,657,445 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl553,466,152 - 53,657,362 (+)EnsemblGRCm38mm10GRCm38
MGSCv37553,947,018 - 54,048,684 (+)NCBIGRCm37mm9NCBIm37
MGSCv36553,878,593 - 53,944,281 (+)NCBImm8
Celera550,938,216 - 51,041,035 (+)NCBICelera
Cytogenetic Map5C1NCBI
cM Map529.37NCBI
Rbpj
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21457,338,493 - 57,523,330 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1457,338,507 - 57,523,353 (-)Ensembl
Rnor_6.01459,657,738 - 59,865,427 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1459,658,935 - 59,735,450 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01459,785,053 - 59,859,229 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1456,447,546 - 56,510,235 (-)NCBICelera
Cytogenetic Map14q11NCBI
Rbpj
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544318,783,061 - 18,910,228 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544318,783,061 - 19,029,441 (-)NCBIChiLan1.0ChiLan1.0
RBPJ
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1425,996,223 - 26,107,683 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl425,995,263 - 26,107,683 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0420,719,548 - 20,835,439 (+)NCBIMhudiblu_PPA_v0panPan3
RBPJ
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1384,060,417 - 84,286,008 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl384,064,440 - 84,286,360 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha386,572,469 - 86,797,897 (-)NCBI
ROS_Cfam_1.0385,030,006 - 85,255,529 (-)NCBI
ROS_Cfam_1.0 Ensembl385,034,041 - 85,255,924 (-)Ensembl
UMICH_Zoey_3.1384,151,949 - 84,377,265 (-)NCBI
UNSW_CanFamBas_1.0384,271,690 - 84,496,976 (-)NCBI
UU_Cfam_GSD_1.0384,656,440 - 84,881,337 (-)NCBI
Rbpj
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528549,648,938 - 49,859,262 (-)NCBI
SpeTri2.0NW_0049364773,354,336 - 3,445,248 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RBPJ
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl819,922,779 - 20,166,754 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1819,933,035 - 20,166,746 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2820,306,820 - 20,540,623 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RBPJ
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12723,911,084 - 24,023,856 (-)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604770,424,032 - 70,537,613 (-)NCBIVero_WHO_p1.0
Rbpj
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247556,176,497 - 6,298,225 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046247556,176,497 - 6,298,034 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-64083  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37426,435,684 - 26,435,808UniSTSGRCh37
Build 36426,044,782 - 26,044,906RGDNCBI36
Celera426,886,446 - 26,886,570RGD
Cytogenetic Map4p15.2UniSTS
HuRef425,773,994 - 25,774,118UniSTS
SHGC-67732  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37426,435,783 - 26,435,940UniSTSGRCh37
Build 36426,044,881 - 26,045,038RGDNCBI36
Celera426,886,545 - 26,886,702RGD
Cytogenetic Map4p15.2UniSTS
HuRef425,774,093 - 25,774,250UniSTS
GeneMap99-GB4 RH Map4105.66UniSTS
NCBI RH Map4274.8UniSTS
STS-T67414  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37426,432,528 - 26,432,674UniSTSGRCh37
Build 36426,041,626 - 26,041,772RGDNCBI36
Celera426,883,290 - 26,883,436RGD
Cytogenetic Map4p15.2UniSTS
HuRef425,770,838 - 25,770,984UniSTS
TNG Radiation Hybrid Map416306.0UniSTS
GeneMap99-GB4 RH Map4108.43UniSTS
NCBI RH Map4266.0UniSTS
SHGC-67311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37426,436,336 - 26,436,584UniSTSGRCh37
Build 36426,045,434 - 26,045,682RGDNCBI36
Celera426,887,098 - 26,887,346RGD
Cytogenetic Map4p15.2UniSTS
HuRef425,774,646 - 25,774,894UniSTS
TNG Radiation Hybrid Map425338.0UniSTS
G48208  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37426,411,761 - 26,411,855UniSTSGRCh37
Build 36426,020,859 - 26,020,953RGDNCBI36
Celera426,862,525 - 26,862,619RGD
Cytogenetic Map4p15.2UniSTS
HuRef425,750,079 - 25,750,173UniSTS
TNG Radiation Hybrid Map416289.0UniSTS
SHGC-133079  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37426,435,620 - 26,435,934UniSTSGRCh37
Build 36426,044,718 - 26,045,032RGDNCBI36
Celera426,886,382 - 26,886,696RGD
Cytogenetic Map4p15.2UniSTS
HuRef425,773,930 - 25,774,244UniSTS
TNG Radiation Hybrid Map416309.0UniSTS
SHGC-67733  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37426,432,600 - 26,432,770UniSTSGRCh37
Build 36426,041,698 - 26,041,868RGDNCBI36
Celera426,883,362 - 26,883,532RGD
Cytogenetic Map4p15.2UniSTS
HuRef425,770,910 - 25,771,080UniSTS
GeneMap99-GB4 RH Map4105.66UniSTS
NCBI RH Map4274.8UniSTS
SHGC-59198  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37426,430,910 - 26,431,068UniSTSGRCh37
Build 36426,040,008 - 26,040,166RGDNCBI36
Celera426,881,672 - 26,881,830RGD
Cytogenetic Map4p15.2UniSTS
HuRef425,769,220 - 25,769,378UniSTS
GeneMap99-GB4 RH Map4105.66UniSTS
Whitehead-RH Map4134.2UniSTS
D4S858  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37426,431,052 - 26,431,204UniSTSGRCh37
Build 36426,040,150 - 26,040,302RGDNCBI36
Celera426,881,814 - 26,881,966RGD
Cytogenetic Map4p15.2UniSTS
HuRef425,769,362 - 25,769,514UniSTS
TNG Radiation Hybrid Map416306.0UniSTS
Stanford-G3 RH Map41608.0UniSTS
Whitehead-RH Map4134.3UniSTS
NCBI RH Map4282.6UniSTS
SHGC-59196  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37426,431,665 - 26,431,791UniSTSGRCh37
Build 36426,040,763 - 26,040,889RGDNCBI36
Celera426,882,427 - 26,882,553RGD
Cytogenetic Map4p15.2UniSTS
HuRef425,769,975 - 25,770,101UniSTS
GeneMap99-GB4 RH Map4107.48UniSTS
Whitehead-RH Map4129.0UniSTS
RBPSUH_4000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37426,432,322 - 26,433,023UniSTSGRCh37
Build 36426,041,420 - 26,042,121RGDNCBI36
Celera426,883,084 - 26,883,785RGD
HuRef425,770,632 - 25,771,333UniSTS
D10S16   No map positions available.
RH35837  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p15.2UniSTS
G43168  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p15.2UniSTS
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5033
Count of miRNA genes:1285
Interacting mature miRNAs:1680
Transcripts:ENST00000342295, ENST00000342320, ENST00000345843, ENST00000348160, ENST00000355476, ENST00000361572, ENST00000504423, ENST00000504907, ENST00000504938, ENST00000505727, ENST00000505958, ENST00000506903, ENST00000506956, ENST00000507561, ENST00000507574, ENST00000509158, ENST00000510725, ENST00000510778, ENST00000511401, ENST00000511451, ENST00000511546, ENST00000512351, ENST00000512671, ENST00000513182, ENST00000514380, ENST00000514656, ENST00000514675, ENST00000514730, ENST00000514807, ENST00000515023, ENST00000515573
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 2400 2320 1354 278 1848 125 4006 1459 3238 330 1446 1604 166 1202 2441 4
Low 32 664 369 344 100 339 349 735 476 88 2 4 5 2 347
Below cutoff 3 2 2 1 1 17 1 7 2 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_030343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_203283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_203284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047415656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047415657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047415658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC093637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC097109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC097714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC111003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL600045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE269143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM472788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM555733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM560796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM680668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ216033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD653684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D14041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC361185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC389691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L07872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L07874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L07875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L07876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L08904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z36843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000342295   ⟹   ENSP00000345206
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,319,636 - 26,431,186 (+)Ensembl
RefSeq Acc Id: ENST00000342320   ⟹   ENSP00000340124
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,362,436 - 26,435,131 (+)Ensembl
RefSeq Acc Id: ENST00000345843   ⟹   ENSP00000305815
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,319,710 - 26,431,066 (+)Ensembl
RefSeq Acc Id: ENST00000348160   ⟹   ENSP00000339699
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,320,807 - 26,431,136 (+)Ensembl
RefSeq Acc Id: ENST00000355476   ⟹   ENSP00000347659
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,321,014 - 26,434,923 (+)Ensembl
RefSeq Acc Id: ENST00000361572   ⟹   ENSP00000354528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,320,563 - 26,431,007 (+)Ensembl
RefSeq Acc Id: ENST00000504423   ⟹   ENSP00000421804
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,344,741 - 26,431,142 (+)Ensembl
RefSeq Acc Id: ENST00000504907   ⟹   ENSP00000423703
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,362,436 - 26,431,156 (+)Ensembl
RefSeq Acc Id: ENST00000504938   ⟹   ENSP00000424459
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,362,530 - 26,420,725 (+)Ensembl
RefSeq Acc Id: ENST00000505727
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,430,146 - 26,431,174 (+)Ensembl
RefSeq Acc Id: ENST00000505958   ⟹   ENSP00000426872
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,321,365 - 26,431,009 (+)Ensembl
RefSeq Acc Id: ENST00000506903
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,420,570 - 26,424,994 (+)Ensembl
RefSeq Acc Id: ENST00000506956   ⟹   ENSP00000425750
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,319,662 - 26,415,613 (+)Ensembl
RefSeq Acc Id: ENST00000507561   ⟹   ENSP00000423907
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,321,602 - 26,431,183 (+)Ensembl
RefSeq Acc Id: ENST00000507574   ⟹   ENSP00000422617
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,322,209 - 26,424,383 (+)Ensembl
RefSeq Acc Id: ENST00000509158   ⟹   ENSP00000424804
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,320,975 - 26,431,140 (+)Ensembl
RefSeq Acc Id: ENST00000510725
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,428,613 - 26,430,195 (+)Ensembl
RefSeq Acc Id: ENST00000510778   ⟹   ENSP00000427170
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,321,016 - 26,430,703 (+)Ensembl
RefSeq Acc Id: ENST00000511401
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,321,014 - 26,415,640 (+)Ensembl
RefSeq Acc Id: ENST00000511451
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,362,476 - 26,420,838 (+)Ensembl
RefSeq Acc Id: ENST00000511546   ⟹   ENSP00000422838
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,359,691 - 26,420,553 (+)Ensembl
RefSeq Acc Id: ENST00000512351   ⟹   ENSP00000424789
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,163,455 - 26,415,605 (+)Ensembl
RefSeq Acc Id: ENST00000512671   ⟹   ENSP00000423644
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,319,662 - 26,431,181 (+)Ensembl
RefSeq Acc Id: ENST00000513182   ⟹   ENSP00000427344
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,321,007 - 26,415,583 (+)Ensembl
RefSeq Acc Id: ENST00000514380
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,320,725 - 26,430,457 (+)Ensembl
RefSeq Acc Id: ENST00000514656
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,362,446 - 26,368,145 (+)Ensembl
RefSeq Acc Id: ENST00000514675   ⟹   ENSP00000423575
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,322,870 - 26,420,563 (+)Ensembl
RefSeq Acc Id: ENST00000514730   ⟹   ENSP00000425061
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,322,164 - 26,420,571 (+)Ensembl
RefSeq Acc Id: ENST00000514807   ⟹   ENSP00000424989
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,320,787 - 26,406,263 (+)Ensembl
RefSeq Acc Id: ENST00000515023
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,385,917 - 26,430,883 (+)Ensembl
RefSeq Acc Id: ENST00000515573   ⟹   ENSP00000423406
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,343,140 - 26,424,479 (+)Ensembl
RefSeq Acc Id: ENST00000679469   ⟹   ENSP00000504953
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,321,228 - 26,431,045 (+)Ensembl
RefSeq Acc Id: ENST00000679698   ⟹   ENSP00000506331
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,321,022 - 26,431,116 (+)Ensembl
RefSeq Acc Id: ENST00000680140   ⟹   ENSP00000506443
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,321,014 - 26,431,168 (+)Ensembl
RefSeq Acc Id: ENST00000680204   ⟹   ENSP00000506010
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,362,581 - 26,430,037 (+)Ensembl
RefSeq Acc Id: ENST00000680210   ⟹   ENSP00000505411
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,321,011 - 26,430,432 (+)Ensembl
RefSeq Acc Id: ENST00000680511   ⟹   ENSP00000506628
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,321,015 - 26,430,911 (+)Ensembl
RefSeq Acc Id: ENST00000680928   ⟹   ENSP00000505493
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,343,172 - 26,431,178 (+)Ensembl
RefSeq Acc Id: ENST00000681025   ⟹   ENSP00000504979
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,321,011 - 26,431,104 (+)Ensembl
RefSeq Acc Id: ENST00000681093   ⟹   ENSP00000504964
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,344,437 - 26,431,134 (+)Ensembl
RefSeq Acc Id: ENST00000681260   ⟹   ENSP00000505479
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,343,183 - 26,431,000 (+)Ensembl
RefSeq Acc Id: ENST00000681264   ⟹   ENSP00000505255
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,362,521 - 26,431,007 (+)Ensembl
RefSeq Acc Id: ENST00000681403
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,163,530 - 26,430,432 (+)Ensembl
RefSeq Acc Id: ENST00000681484   ⟹   ENSP00000505636
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,321,299 - 26,431,159 (+)Ensembl
RefSeq Acc Id: ENST00000681506   ⟹   ENSP00000504925
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,320,961 - 26,431,066 (+)Ensembl
RefSeq Acc Id: ENST00000681679   ⟹   ENSP00000505870
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,321,011 - 26,431,083 (+)Ensembl
RefSeq Acc Id: ENST00000681799   ⟹   ENSP00000504876
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,163,458 - 26,430,432 (+)Ensembl
RefSeq Acc Id: ENST00000681856   ⟹   ENSP00000505922
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,321,003 - 26,430,982 (+)Ensembl
RefSeq Acc Id: ENST00000689192
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,343,162 - 26,431,182 (+)Ensembl
RefSeq Acc Id: ENST00000691085
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,321,003 - 26,431,182 (+)Ensembl
RefSeq Acc Id: ENST00000692303
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl426,321,003 - 26,431,182 (+)Ensembl
RefSeq Acc Id: NM_001363577   ⟹   NP_001350506
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,321,228 - 26,435,131 (+)NCBI
T2T-CHM13v2.0426,306,219 - 26,420,111 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001374400   ⟹   NP_001361329
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,319,746 - 26,435,131 (+)NCBI
T2T-CHM13v2.0426,304,737 - 26,420,111 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001374401   ⟹   NP_001361330
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,163,458 - 26,435,131 (+)NCBI
T2T-CHM13v2.0426,145,652 - 26,420,111 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001374402   ⟹   NP_001361331
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,321,228 - 26,435,131 (+)NCBI
T2T-CHM13v2.0426,306,219 - 26,420,111 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001374403   ⟹   NP_001361332
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,343,140 - 26,435,131 (+)NCBI
T2T-CHM13v2.0426,328,124 - 26,420,111 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379406   ⟹   NP_001366335
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,319,746 - 26,435,131 (+)NCBI
T2T-CHM13v2.0426,304,737 - 26,420,111 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379407   ⟹   NP_001366336
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,319,746 - 26,435,131 (+)NCBI
T2T-CHM13v2.0426,304,737 - 26,420,111 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379408   ⟹   NP_001366337
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,319,746 - 26,435,131 (+)NCBI
T2T-CHM13v2.0426,304,737 - 26,420,111 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001379409   ⟹   NP_001366338
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,319,746 - 26,435,131 (+)NCBI
T2T-CHM13v2.0426,304,737 - 26,420,111 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005349   ⟹   NP_005340
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,319,746 - 26,435,131 (+)NCBI
GRCh37426,165,077 - 26,436,753 (+)NCBI
Build 36425,930,430 - 26,042,376 (+)NCBI Archive
HuRef425,659,979 - 25,775,063 (+)NCBI
CHM1_1426,322,549 - 26,437,875 (+)NCBI
T2T-CHM13v2.0426,304,737 - 26,420,111 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015874   ⟹   NP_056958
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,321,014 - 26,434,923 (+)NCBI
GRCh37426,165,077 - 26,436,753 (+)NCBI
Build 36425,931,546 - 26,042,376 (+)NCBI Archive
HuRef425,659,979 - 25,775,063 (+)NCBI
CHM1_1426,323,646 - 26,437,875 (+)NCBI
T2T-CHM13v2.0426,306,005 - 26,419,903 (+)NCBI
Sequence:
RefSeq Acc Id: NM_203283   ⟹   NP_976028
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,319,746 - 26,435,131 (+)NCBI
GRCh37426,165,077 - 26,436,753 (+)NCBI
Build 36425,930,430 - 26,042,376 (+)NCBI Archive
HuRef425,659,979 - 25,775,063 (+)NCBI
CHM1_1426,322,549 - 26,437,875 (+)NCBI
T2T-CHM13v2.0426,304,737 - 26,420,111 (+)NCBI
Sequence:
RefSeq Acc Id: NM_203284   ⟹   NP_976029
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,321,014 - 26,435,131 (+)NCBI
GRCh37426,165,077 - 26,436,753 (+)NCBI
Build 36425,931,546 - 26,042,376 (+)NCBI Archive
HuRef425,659,979 - 25,775,063 (+)NCBI
CHM1_1426,323,646 - 26,437,875 (+)NCBI
T2T-CHM13v2.0426,306,005 - 26,420,111 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011513840   ⟹   XP_011512142
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,321,228 - 26,435,131 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008171   ⟹   XP_016863660
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,322,166 - 26,435,131 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047415656   ⟹   XP_047271612
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,105,449 - 26,435,131 (+)NCBI
RefSeq Acc Id: XM_047415657   ⟹   XP_047271613
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,322,166 - 26,435,131 (+)NCBI
RefSeq Acc Id: XM_047415658   ⟹   XP_047271614
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,322,166 - 26,435,131 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001350506 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361329 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361330 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361331 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361332 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366335 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366336 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366337 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366338 (Get FASTA)   NCBI Sequence Viewer  
  NP_005340 (Get FASTA)   NCBI Sequence Viewer  
  NP_056958 (Get FASTA)   NCBI Sequence Viewer  
  NP_976028 (Get FASTA)   NCBI Sequence Viewer  
  NP_976029 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512142 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863660 (Get FASTA)   NCBI Sequence Viewer  
  XP_047271612 (Get FASTA)   NCBI Sequence Viewer  
  XP_047271613 (Get FASTA)   NCBI Sequence Viewer  
  XP_047271614 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA16253 (Get FASTA)   NCBI Sequence Viewer  
  AAA16254 (Get FASTA)   NCBI Sequence Viewer  
  AAA16356 (Get FASTA)   NCBI Sequence Viewer  
  AAA60258 (Get FASTA)   NCBI Sequence Viewer  
  AAA91836 (Get FASTA)   NCBI Sequence Viewer  
  AAH20780 (Get FASTA)   NCBI Sequence Viewer  
  AAH64976 (Get FASTA)   NCBI Sequence Viewer  
  BAA21773 (Get FASTA)   NCBI Sequence Viewer  
  BAG63584 (Get FASTA)   NCBI Sequence Viewer  
  BAH13924 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43315 (Get FASTA)   NCBI Sequence Viewer  
  EAW92846 (Get FASTA)   NCBI Sequence Viewer  
  EAW92847 (Get FASTA)   NCBI Sequence Viewer  
  EAW92848 (Get FASTA)   NCBI Sequence Viewer  
  EAW92849 (Get FASTA)   NCBI Sequence Viewer  
  Q06330 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_005340   ⟸   NM_005349
- Peptide Label: isoform 1
- UniProtKB: Q6P1N3 (UniProtKB/Swiss-Prot),   Q06330 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_976028   ⟸   NM_203283
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_976029   ⟸   NM_203284
- Peptide Label: isoform 4
- UniProtKB: Q06330 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_056958   ⟸   NM_015874
- Peptide Label: isoform 2
- UniProtKB: Q06330 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011512142   ⟸   XM_011513840
- Peptide Label: isoform X3
- UniProtKB: Q06330 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016863660   ⟸   XM_017008171
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001350506   ⟸   NM_001363577
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001361330   ⟸   NM_001374401
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001361329   ⟸   NM_001374400
- Peptide Label: isoform 1
- UniProtKB: Q6P1N3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001361331   ⟸   NM_001374402
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001361332   ⟸   NM_001374403
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001366336   ⟸   NM_001379407
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001366337   ⟸   NM_001379408
- Peptide Label: isoform 7
RefSeq Acc Id: NP_001366335   ⟸   NM_001379406
- Peptide Label: isoform 4
RefSeq Acc Id: NP_001366338   ⟸   NM_001379409
- Peptide Label: isoform 6
RefSeq Acc Id: ENSP00000305815   ⟸   ENST00000345843
RefSeq Acc Id: ENSP00000421804   ⟸   ENST00000504423
RefSeq Acc Id: ENSP00000423703   ⟸   ENST00000504907
RefSeq Acc Id: ENSP00000424459   ⟸   ENST00000504938
RefSeq Acc Id: ENSP00000339699   ⟸   ENST00000348160
RefSeq Acc Id: ENSP00000426872   ⟸   ENST00000505958
RefSeq Acc Id: ENSP00000425750   ⟸   ENST00000506956
RefSeq Acc Id: ENSP00000354528   ⟸   ENST00000361572
RefSeq Acc Id: ENSP00000423907   ⟸   ENST00000507561
RefSeq Acc Id: ENSP00000422617   ⟸   ENST00000507574
RefSeq Acc Id: ENSP00000424804   ⟸   ENST00000509158
RefSeq Acc Id: ENSP00000427170   ⟸   ENST00000510778
RefSeq Acc Id: ENSP00000422838   ⟸   ENST00000511546
RefSeq Acc Id: ENSP00000347659   ⟸   ENST00000355476
RefSeq Acc Id: ENSP00000423644   ⟸   ENST00000512671
RefSeq Acc Id: ENSP00000424789   ⟸   ENST00000512351
RefSeq Acc Id: ENSP00000345206   ⟸   ENST00000342295
RefSeq Acc Id: ENSP00000340124   ⟸   ENST00000342320
RefSeq Acc Id: ENSP00000427344   ⟸   ENST00000513182
RefSeq Acc Id: ENSP00000423575   ⟸   ENST00000514675
RefSeq Acc Id: ENSP00000424989   ⟸   ENST00000514807
RefSeq Acc Id: ENSP00000425061   ⟸   ENST00000514730
RefSeq Acc Id: ENSP00000423406   ⟸   ENST00000515573
RefSeq Acc Id: ENSP00000505255   ⟸   ENST00000681264
RefSeq Acc Id: ENSP00000504979   ⟸   ENST00000681025
RefSeq Acc Id: ENSP00000504925   ⟸   ENST00000681506
RefSeq Acc Id: ENSP00000504964   ⟸   ENST00000681093
RefSeq Acc Id: ENSP00000505479   ⟸   ENST00000681260
RefSeq Acc Id: ENSP00000505411   ⟸   ENST00000680210
RefSeq Acc Id: ENSP00000506628   ⟸   ENST00000680511
RefSeq Acc Id: ENSP00000506443   ⟸   ENST00000680140
RefSeq Acc Id: ENSP00000505870   ⟸   ENST00000681679
RefSeq Acc Id: ENSP00000504953   ⟸   ENST00000679469
RefSeq Acc Id: ENSP00000506010   ⟸   ENST00000680204
RefSeq Acc Id: ENSP00000505636   ⟸   ENST00000681484
RefSeq Acc Id: ENSP00000506331   ⟸   ENST00000679698
RefSeq Acc Id: ENSP00000505493   ⟸   ENST00000680928
RefSeq Acc Id: ENSP00000505922   ⟸   ENST00000681856
RefSeq Acc Id: ENSP00000504876   ⟸   ENST00000681799
RefSeq Acc Id: XP_047271612   ⟸   XM_047415656
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047271613   ⟸   XM_047415657
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047271614   ⟸   XM_047415658
- Peptide Label: isoform X4
Protein Domains
BTD   IPT/TIG   LAG1_DNAbind   TIG_SUH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q06330-F1-model_v2 AlphaFold Q06330 1-500 view protein structure

Promoters
RGD ID:6802556
Promoter ID:HG_KWN:48002
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_005349,   OTTHUMT00000215045
Position:
Human AssemblyChrPosition (strand)Source
Build 36425,929,971 - 25,930,497 (+)MPROMDB
RGD ID:6802561
Promoter ID:HG_KWN:48003
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_015874,   NM_203284,   UC003GRZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36425,930,331 - 25,931,702 (+)MPROMDB
RGD ID:6812588
Promoter ID:HG_ACW:58705
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   Lymphoblastoid,   NB4
Transcripts:RBPJ.FAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36425,931,821 - 25,932,577 (+)MPROMDB
RGD ID:6867174
Promoter ID:EPDNEW_H6752
Type:initiation region
Name:RBPJ_4
Description:recombination signal binding protein for immunoglobulin kappaJ region
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6753  EPDNEW_H6754  EPDNEW_H6755  EPDNEW_H6756  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,163,458 - 26,163,518EPDNEW
RGD ID:6867176
Promoter ID:EPDNEW_H6753
Type:initiation region
Name:RBPJ_3
Description:recombination signal binding protein for immunoglobulin kappaJ region
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6752  EPDNEW_H6754  EPDNEW_H6755  EPDNEW_H6756  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,319,746 - 26,319,806EPDNEW
RGD ID:6867178
Promoter ID:EPDNEW_H6754
Type:initiation region
Name:RBPJ_1
Description:recombination signal binding protein for immunoglobulin kappaJ region
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6752  EPDNEW_H6753  EPDNEW_H6755  EPDNEW_H6756  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,320,807 - 26,320,867EPDNEW
RGD ID:6867180
Promoter ID:EPDNEW_H6755
Type:initiation region
Name:RBPJ_2
Description:recombination signal binding protein for immunoglobulin kappaJ region
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6752  EPDNEW_H6753  EPDNEW_H6754  EPDNEW_H6756  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,321,014 - 26,321,074EPDNEW
RGD ID:6867182
Promoter ID:EPDNEW_H6756
Type:initiation region
Name:RBPJ_5
Description:recombination signal binding protein for immunoglobulin kappaJ region
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6752  EPDNEW_H6753  EPDNEW_H6754  EPDNEW_H6755  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38426,362,440 - 26,362,500EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_015874.6(RBPJ):c.149A>G (p.Glu50Gly) single nucleotide variant Adams-Oliver syndrome 3 [RCV000030707] Chr4:26406264 [GRCh38]
Chr4:26407886 [GRCh37]
Chr4:4p15.2		 pathogenic
NM_015874.6(RBPJ):c.466A>G (p.Lys156Glu) single nucleotide variant Adams-Oliver syndrome 3 [RCV000030708] Chr4:26420695 [GRCh38]
Chr4:26422317 [GRCh37]
Chr4:4p15.2		 pathogenic
NM_015874.6(RBPJ):c.21-26407G>A single nucleotide variant Type 2 diabetes mellitus [RCV000626365] Chr4:26359946 [GRCh38]
Chr4:26361568 [GRCh37]
Chr4:4p15.2		 benign
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p15.31-15.2(chr4:21056309-26732162)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053263]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053263]|See cases [RCV000053263] Chr4:21056309..26732162 [GRCh38]
Chr4:21057932..26733784 [GRCh37]
Chr4:20667030..26342882 [NCBI36]
Chr4:4p15.31-15.2		 pathogenic
NM_015874.6(RBPJ):c.154A>G (p.Arg52Gly) single nucleotide variant Adams-Oliver syndrome 3 [RCV000662238]|Type 2 diabetes mellitus [RCV000987431] Chr4:26406269 [GRCh38]
Chr4:26407891 [GRCh37]
Chr4:4p15.2		 likely pathogenic
NM_015874.6(RBPJ):c.157T>G (p.Phe53Val) single nucleotide variant Adams-Oliver syndrome 3 [RCV000662239] Chr4:26415476 [GRCh38]
Chr4:26417098 [GRCh37]
Chr4:4p15.2		 likely pathogenic
NM_015874.6(RBPJ):c.957C>A (p.Ser319Arg) single nucleotide variant Adams-Oliver syndrome 3 [RCV000662240] Chr4:26429966 [GRCh38]
Chr4:26431588 [GRCh37]
Chr4:4p15.2		 likely pathogenic
NC_000004.12:g.26210411T>C single nucleotide variant Lung cancer [RCV000094596] Chr4:26210411 [GRCh38]
Chr4:26212033 [GRCh37]
Chr4:4p15.2		 uncertain significance
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p15.2(chr4:23862000-27685546)x1 copy number loss See cases [RCV000135404] Chr4:23862000..27685546 [GRCh38]
Chr4:23863623..27687168 [GRCh37]
Chr4:23472721..27296266 [NCBI36]
Chr4:4p15.2		 pathogenic
GRCh38/hg38 4p15.32-15.1(chr4:16925022-32113076)x1 copy number loss See cases [RCV000135806] Chr4:16925022..32113076 [GRCh38]
Chr4:16926645..32114698 [GRCh37]
Chr4:16535743..31758596 [NCBI36]
Chr4:4p15.32-15.1		 pathogenic|likely pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV000449078] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p15.2-15.1(chr4:23458442-29252060)x1 copy number loss See cases [RCV000240221] Chr4:23458442..29252060 [GRCh37]
Chr4:4p15.2-15.1		 pathogenic
NM_015874.6(RBPJ):c.59+2331A>C single nucleotide variant Type 2 diabetes mellitus [RCV000626357] Chr4:26388722 [GRCh38]
Chr4:26390344 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.60-5130C>T single nucleotide variant Type 2 diabetes mellitus [RCV000626369] Chr4:26401045 [GRCh38]
Chr4:26402667 [GRCh37]
Chr4:4p15.2		 benign
NM_005349.4(RBPJ):c.59+102G>A single nucleotide variant Type 2 diabetes mellitus [RCV000626373] Chr4:26320917 [GRCh38]
Chr4:26322539 [GRCh37]
Chr4:4p15.2		 benign
NM_005349.3(RBPJ):c.-1504G>A single nucleotide variant Type 2 diabetes mellitus [RCV000626358] Chr4:26318442 [GRCh38]
Chr4:26320064 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.321+406G>A single nucleotide variant Type 2 diabetes mellitus [RCV000626368] Chr4:26416046 [GRCh38]
Chr4:26417668 [GRCh37]
Chr4:4p15.2		 benign
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p15.2-15.1(chr4:23790131-32302608)x1 copy number loss See cases [RCV000445756] Chr4:23790131..32302608 [GRCh37]
Chr4:4p15.2-15.1		 likely pathogenic
NM_015874.6(RBPJ):c.635-9_638del deletion not provided [RCV000486407] Chr4:26424622..26424634 [GRCh38]
Chr4:26426244..26426256 [GRCh37]
Chr4:4p15.2		 likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
NM_015874.6(RBPJ):c.20+10722T>G single nucleotide variant Type 2 diabetes mellitus [RCV000626366] Chr4:26331770 [GRCh38]
Chr4:26333392 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.21-2640G>A single nucleotide variant Type 2 diabetes mellitus [RCV000626364] Chr4:26383713 [GRCh38]
Chr4:26385335 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.156-2327G>C single nucleotide variant Type 2 diabetes mellitus [RCV000626361] Chr4:26413148 [GRCh38]
Chr4:26414770 [GRCh37]
Chr4:4p15.2		 benign
NC_000004.11:g.26446006G>A single nucleotide variant Type 2 diabetes mellitus [RCV000626362] Chr4:26444384 [GRCh38]
Chr4:26446006 [GRCh37]
Chr4:4p15.2		 benign
NC_000004.11:g.26455229G>C single nucleotide variant Type 2 diabetes mellitus [RCV000626363] Chr4:26453607 [GRCh38]
Chr4:26455229 [GRCh37]
Chr4:4p15.2		 benign
NC_000004.11:g.26223789C>T single nucleotide variant Type 2 diabetes mellitus [RCV000626359] Chr4:26222167 [GRCh38]
Chr4:26223789 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.20+13573C>T single nucleotide variant Type 2 diabetes mellitus [RCV000626360] Chr4:26334621 [GRCh38]
Chr4:26336243 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.21-20856T>C single nucleotide variant Type 2 diabetes mellitus [RCV000626367] Chr4:26365497 [GRCh38]
Chr4:26367119 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.60-8189dup duplication Type 2 diabetes mellitus [RCV000626370] Chr4:26397981..26397982 [GRCh38]
Chr4:26399603..26399604 [GRCh37]
Chr4:4p15.2		 benign
NC_000004.11:g.26451697G>A single nucleotide variant Type 2 diabetes mellitus [RCV000626371] Chr4:26450075 [GRCh38]
Chr4:26451697 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.20+29693T>G single nucleotide variant Type 2 diabetes mellitus [RCV000626372] Chr4:26350741 [GRCh38]
Chr4:26352363 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.130C>G (p.Gln44Glu) single nucleotide variant Inborn genetic diseases [RCV000623402] Chr4:26406245 [GRCh38]
Chr4:26407867 [GRCh37]
Chr4:4p15.2		 likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1 copy number loss not provided [RCV000682373] Chr4:4165334..33324781 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p15.2(chr4:26431386-26489057)x3 copy number gain not provided [RCV000743456] Chr4:26431386..26489057 [GRCh37]
Chr4:4p15.2		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_015874.6(RBPJ):c.258G>T (p.Pro86=) single nucleotide variant not provided [RCV000894477] Chr4:26415577 [GRCh38]
Chr4:26417199 [GRCh37]
Chr4:4p15.2		 likely benign
NM_015874.6(RBPJ):c.*193A>G single nucleotide variant not provided [RCV001645704] Chr4:26431200 [GRCh38]
Chr4:26432822 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.321+135del deletion not provided [RCV001665744] Chr4:26415774 [GRCh38]
Chr4:26417396 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.1411G>A (p.Ala471Thr) single nucleotide variant not provided [RCV000906688] Chr4:26430954 [GRCh38]
Chr4:26432576 [GRCh37]
Chr4:4p15.2		 likely benign
NM_015874.6(RBPJ):c.1332A>G (p.Ala444=) single nucleotide variant not provided [RCV000967744] Chr4:26430875 [GRCh38]
Chr4:26432497 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.1038C>T (p.Ser346=) single nucleotide variant not provided [RCV000901887] Chr4:26430047 [GRCh38]
Chr4:26431669 [GRCh37]
Chr4:4p15.2		 likely benign
NM_015874.6(RBPJ):c.282T>C (p.Asn94=) single nucleotide variant not provided [RCV000923465] Chr4:26415601 [GRCh38]
Chr4:26417223 [GRCh37]
Chr4:4p15.2		 likely benign
NM_015874.6(RBPJ):c.1284C>T (p.Thr428=) single nucleotide variant not provided [RCV000972106] Chr4:26430827 [GRCh38]
Chr4:26432449 [GRCh37]
Chr4:4p15.2		 benign|likely benign
NM_015874.6(RBPJ):c.1335A>G (p.Gly445=) single nucleotide variant not provided [RCV000915805] Chr4:26430878 [GRCh38]
Chr4:26432500 [GRCh37]
Chr4:4p15.2		 likely benign
GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141) copy number loss not provided [RCV000767707] Chr4:12778849..27760141 [GRCh37]
Chr4:4p15.33-15.1		 pathogenic
NM_015874.6(RBPJ):c.1168del (p.Cys390fs) deletion Type 2 diabetes mellitus [RCV000987436] Chr4:26430711 [GRCh38]
Chr4:26432333 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_015874.6(RBPJ):c.1183A>G (p.Ile395Val) single nucleotide variant Type 2 diabetes mellitus [RCV000987437] Chr4:26430726 [GRCh38]
Chr4:26432348 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_015874.6(RBPJ):c.368G>A (p.Arg123Gln) single nucleotide variant Type 2 diabetes mellitus [RCV000987432] Chr4:26420597 [GRCh38]
Chr4:26422219 [GRCh37]
Chr4:4p15.2		 uncertain significance
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
NM_015874.6(RBPJ):c.745T>C (p.Leu249=) single nucleotide variant not provided [RCV000979637] Chr4:26424741 [GRCh38]
Chr4:26426363 [GRCh37]
Chr4:4p15.2		 likely benign
NM_015874.6(RBPJ):c.1446A>G (p.Thr482=) single nucleotide variant not provided [RCV000896391] Chr4:26430989 [GRCh38]
Chr4:26432611 [GRCh37]
Chr4:4p15.2		 likely benign
NM_015874.6(RBPJ):c.673C>T (p.Arg225Ter) single nucleotide variant not provided [RCV000998232] Chr4:26424669 [GRCh38]
Chr4:26426291 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_015874.6(RBPJ):c.1064T>A (p.Val355Glu) single nucleotide variant Type 2 diabetes mellitus [RCV000987434] Chr4:26430438 [GRCh38]
Chr4:26432060 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_015874.6(RBPJ):c.634+15G>T single nucleotide variant not provided [RCV001544941] Chr4:26424494 [GRCh38]
Chr4:26426116 [GRCh37]
Chr4:4p15.2		 benign|likely benign
NM_015874.6(RBPJ):c.394A>G (p.Met132Val) single nucleotide variant Type 2 diabetes mellitus [RCV000987433] Chr4:26420623 [GRCh38]
Chr4:26422245 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_015874.6(RBPJ):c.155+203A>G single nucleotide variant not provided [RCV001574565] Chr4:26406473 [GRCh38]
Chr4:26408095 [GRCh37]
Chr4:4p15.2		 likely benign
NM_015874.6(RBPJ):c.1044+155del deletion not provided [RCV001651403] Chr4:26430200 [GRCh38]
Chr4:26431822 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.1045-97T>A single nucleotide variant not provided [RCV001560625] Chr4:26430322 [GRCh38]
Chr4:26431944 [GRCh37]
Chr4:4p15.2		 likely benign
NM_005349.4(RBPJ):c.-57-48A>G single nucleotide variant not provided [RCV001560684] Chr4:26320652 [GRCh38]
Chr4:26322274 [GRCh37]
Chr4:4p15.2		 likely benign
NM_005349.4(RBPJ):c.-57-280G>A single nucleotide variant not provided [RCV001689410] Chr4:26320420 [GRCh38]
Chr4:26322042 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.321+183C>T single nucleotide variant not provided [RCV001562304] Chr4:26415823 [GRCh38]
Chr4:26417445 [GRCh37]
Chr4:4p15.2		 likely benign
NM_015874.6(RBPJ):c.1045-53T>G single nucleotide variant not provided [RCV001577723] Chr4:26430366 [GRCh38]
Chr4:26431988 [GRCh37]
Chr4:4p15.2		 likely benign
NM_015874.6(RBPJ):c.497-49C>T single nucleotide variant not provided [RCV001563215] Chr4:26424293 [GRCh38]
Chr4:26425915 [GRCh37]
Chr4:4p15.2		 likely benign
NM_015874.6(RBPJ):c.322-129G>T single nucleotide variant not provided [RCV001689494] Chr4:26420422 [GRCh38]
Chr4:26422044 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.889-134A>G single nucleotide variant not provided [RCV001682005] Chr4:26429764 [GRCh38]
Chr4:26431386 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.141T>C (p.Tyr47=) single nucleotide variant not provided [RCV000955334] Chr4:26406256 [GRCh38]
Chr4:26407878 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.1023G>A (p.Val341=) single nucleotide variant not provided [RCV000909505] Chr4:26430032 [GRCh38]
Chr4:26431654 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.1437A>G (p.Thr479=) single nucleotide variant not provided [RCV000911293] Chr4:26430980 [GRCh38]
Chr4:26432602 [GRCh37]
Chr4:4p15.2		 likely benign
NM_015874.6(RBPJ):c.1066G>C (p.Ala356Pro) single nucleotide variant Type 2 diabetes mellitus [RCV000987435] Chr4:26430440 [GRCh38]
Chr4:26432062 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_015874.6(RBPJ):c.889-274A>G single nucleotide variant not provided [RCV001671413] Chr4:26429624 [GRCh38]
Chr4:26431246 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.156-179G>A single nucleotide variant not provided [RCV001527985] Chr4:26415296 [GRCh38]
Chr4:26416918 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.156-18dup duplication not provided [RCV001621817] Chr4:26415446..26415447 [GRCh38]
Chr4:26417068..26417069 [GRCh37]
Chr4:4p15.2		 benign
NM_005349.4(RBPJ):c.-57-200G>T single nucleotide variant not provided [RCV001537048] Chr4:26320500 [GRCh38]
Chr4:26322122 [GRCh37]
Chr4:4p15.2		 likely benign
NM_015874.6(RBPJ):c.156-211G>A single nucleotide variant not provided [RCV001720380] Chr4:26415264 [GRCh38]
Chr4:26416886 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.321+147C>T single nucleotide variant not provided [RCV001590034] Chr4:26415787 [GRCh38]
Chr4:26417409 [GRCh37]
Chr4:4p15.2		 likely benign
NM_015874.6(RBPJ):c.*80T>A single nucleotide variant not provided [RCV001546503] Chr4:26431087 [GRCh38]
Chr4:26432709 [GRCh37]
Chr4:4p15.2		 likely benign
NM_015874.6(RBPJ):c.322-171T>G single nucleotide variant not provided [RCV001548665] Chr4:26420380 [GRCh38]
Chr4:26422002 [GRCh37]
Chr4:4p15.2		 likely benign
NM_015874.6(RBPJ):c.60-116A>G single nucleotide variant not provided [RCV001647675] Chr4:26406059 [GRCh38]
Chr4:26407681 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.497-113C>G single nucleotide variant not provided [RCV001613763] Chr4:26424229 [GRCh38]
Chr4:26425851 [GRCh37]
Chr4:4p15.2		 benign
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p15.31-15.1(chr4:20406475-29134345)x1 copy number loss not provided [RCV001005527] Chr4:20406475..29134345 [GRCh37]
Chr4:4p15.31-15.1		 pathogenic
GRCh37/hg19 4p15.2(chr4:26326650-27059065)x3 copy number gain not provided [RCV001259841] Chr4:26326650..27059065 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_015874.6(RBPJ):c.1044+155dup duplication not provided [RCV001764979] Chr4:26430199..26430200 [GRCh38]
Chr4:26431821..26431822 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.775G>T (p.Ala259Ser) single nucleotide variant not provided [RCV001321419] Chr4:26428747 [GRCh38]
Chr4:26430369 [GRCh37]
Chr4:4p15.2		 uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
NM_005349.4(RBPJ):c.28del (p.Glu10fs) deletion Adams-Oliver syndrome 3 [RCV001329396] Chr4:26320783 [GRCh38]
Chr4:26322405 [GRCh37]
Chr4:4p15.2		 pathogenic
NM_005349.4(RBPJ):c.-64dup duplication Adams-Oliver syndrome 3 [RCV001329397] Chr4:26319876..26319877 [GRCh38]
Chr4:26321498..26321499 [GRCh37]
Chr4:4p15.2		 pathogenic
NM_015874.6(RBPJ):c.60-68G>A single nucleotide variant not provided [RCV001538331] Chr4:26406107 [GRCh38]
Chr4:26407729 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.60-285G>A single nucleotide variant not provided [RCV001534493] Chr4:26405890 [GRCh38]
Chr4:26407512 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.496+160G>A single nucleotide variant not provided [RCV001686040] Chr4:26420885 [GRCh38]
Chr4:26422507 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.748-195A>G single nucleotide variant not provided [RCV001687020] Chr4:26428525 [GRCh38]
Chr4:26430147 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.195T>C (p.Ser65=) single nucleotide variant not provided [RCV001509697] Chr4:26415514 [GRCh38]
Chr4:26417136 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.21-5del deletion not provided [RCV001511588] Chr4:26386338 [GRCh38]
Chr4:26387960 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.1249C>T (p.Arg417Ter) single nucleotide variant not provided [RCV001755011] Chr4:26430792 [GRCh38]
Chr4:26432414 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_015874.6(RBPJ):c.134del (p.Lys45fs) deletion not provided [RCV001765328] Chr4:26406248 [GRCh38]
Chr4:26407870 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_015874.6(RBPJ):c.50G>A (p.Arg17Gln) single nucleotide variant Adams-Oliver syndrome 3 [RCV001839129]|not provided [RCV002034706] Chr4:26386382 [GRCh38]
Chr4:26388004 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_015874.6(RBPJ):c.1217G>A (p.Arg406Gln) single nucleotide variant not provided [RCV001874251] Chr4:26430760 [GRCh38]
Chr4:26432382 [GRCh37]
Chr4:4p15.2		 uncertain significance
GRCh37/hg19 4p15.31-14(chr4:19892850-37325128) copy number loss not specified [RCV002053409] Chr4:19892850..37325128 [GRCh37]
Chr4:4p15.31-14		 pathogenic
GRCh37/hg19 4p15.2-15.1(chr4:23790131-32302608) copy number loss not specified [RCV002053411] Chr4:23790131..32302608 [GRCh37]
Chr4:4p15.2-15.1		 likely pathogenic
NM_015874.6(RBPJ):c.1007C>T (p.Ala336Val) single nucleotide variant not provided [RCV001913287] Chr4:26430016 [GRCh38]
Chr4:26431638 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_015874.6(RBPJ):c.405C>T (p.Gly135=) single nucleotide variant not provided [RCV002023453] Chr4:26420634 [GRCh38]
Chr4:26422256 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_015874.6(RBPJ):c.59+4A>G single nucleotide variant not provided [RCV002009823] Chr4:26386395 [GRCh38]
Chr4:26388017 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_015874.6(RBPJ):c.1427C>G (p.Thr476Ser) single nucleotide variant not provided [RCV001866666] Chr4:26430970 [GRCh38]
Chr4:26432592 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_015874.6(RBPJ):c.257C>G (p.Pro86Arg) single nucleotide variant not provided [RCV001977634] Chr4:26415576 [GRCh38]
Chr4:26417198 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_015874.6(RBPJ):c.229G>A (p.Asp77Asn) single nucleotide variant not provided [RCV001939144] Chr4:26415548 [GRCh38]
Chr4:26417170 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_015874.6(RBPJ):c.462T>C (p.Pro154=) single nucleotide variant not provided [RCV001993298] Chr4:26420691 [GRCh38]
Chr4:26422313 [GRCh37]
Chr4:4p15.2		 likely benign
NM_005349.4(RBPJ):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV001891528] Chr4:26320757 [GRCh38]
Chr4:26322379 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_015874.6(RBPJ):c.129A>G (p.Ala43=) single nucleotide variant not provided [RCV002192472] Chr4:26406244 [GRCh38]
Chr4:26407866 [GRCh37]
Chr4:4p15.2		 likely benign
NM_015874.6(RBPJ):c.774C>T (p.Thr258=) single nucleotide variant not provided [RCV002208388] Chr4:26428746 [GRCh38]
Chr4:26430368 [GRCh37]
Chr4:4p15.2		 likely benign
NM_015874.6(RBPJ):c.634+17G>T single nucleotide variant not provided [RCV002086331] Chr4:26424496 [GRCh38]
Chr4:26426118 [GRCh37]
Chr4:4p15.2		 likely benign
NM_015874.6(RBPJ):c.156-18T>C single nucleotide variant not provided [RCV002151252] Chr4:26415457 [GRCh38]
Chr4:26417079 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.888+14T>C single nucleotide variant not provided [RCV002116080] Chr4:26428874 [GRCh38]
Chr4:26430496 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.258G>A (p.Pro86=) single nucleotide variant not provided [RCV002197557] Chr4:26415577 [GRCh38]
Chr4:26417199 [GRCh37]
Chr4:4p15.2		 likely benign
NM_005349.4(RBPJ):c.59+12G>C single nucleotide variant not provided [RCV002108342] Chr4:26320827 [GRCh38]
Chr4:26322449 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.1374C>T (p.Asn458=) single nucleotide variant not provided [RCV002133573] Chr4:26430917 [GRCh38]
Chr4:26432539 [GRCh37]
Chr4:4p15.2		 likely benign
NM_015874.6(RBPJ):c.1044+8C>T single nucleotide variant not provided [RCV002172893] Chr4:26430061 [GRCh38]
Chr4:26431683 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.321+18G>C single nucleotide variant not provided [RCV002114572] Chr4:26415658 [GRCh38]
Chr4:26417280 [GRCh37]
Chr4:4p15.2		 likely benign
NM_015874.6(RBPJ):c.21-6_21-5del deletion not provided [RCV002195597] Chr4:26386338..26386339 [GRCh38]
Chr4:26387960..26387961 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.204G>A (p.Lys68=) single nucleotide variant not provided [RCV002171307] Chr4:26415523 [GRCh38]
Chr4:26417145 [GRCh37]
Chr4:4p15.2		 likely benign
NM_015874.6(RBPJ):c.21-5dup duplication not provided [RCV002081369] Chr4:26386337..26386338 [GRCh38]
Chr4:26387959..26387960 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.59+14T>G single nucleotide variant not provided [RCV002180499] Chr4:26386405 [GRCh38]
Chr4:26388027 [GRCh37]
Chr4:4p15.2		 likely benign
NM_015874.6(RBPJ):c.634+15G>A single nucleotide variant not provided [RCV002160208] Chr4:26424494 [GRCh38]
Chr4:26426116 [GRCh37]
Chr4:4p15.2		 benign
NM_015874.6(RBPJ):c.897A>G (p.Pro299=) single nucleotide variant not provided [RCV002184156] Chr4:26429906 [GRCh38]
Chr4:26431528 [GRCh37]
Chr4:4p15.2		 likely benign
NM_015874.6(RBPJ):c.156-14dup duplication not provided [RCV002157981] Chr4:26415457..26415458 [GRCh38]
Chr4:26417079..26417080 [GRCh37]
Chr4:4p15.2		 benign
NM_005349.4(RBPJ):c.-58+3A>C single nucleotide variant not provided [RCV002265369] Chr4:26319891 [GRCh38]
Chr4:26321513 [GRCh37]
Chr4:4p15.2		 uncertain significance
NM_015874.6(RBPJ):c.1375G>A (p.Glu459Lys) single nucleotide variant Adams-Oliver syndrome 3 [RCV002266599] Chr4:26430918 [GRCh38]
Chr4:26432540 [GRCh37]
Chr4:4p15.2		 uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5724 AgrOrtholog
COSMIC RBPJ COSMIC
Ensembl Genes ENSG00000168214 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000305815 ENTREZGENE
  ENSP00000305815.6 UniProtKB/Swiss-Prot
  ENSP00000339699 ENTREZGENE
  ENSP00000339699.5 UniProtKB/Swiss-Prot
  ENSP00000340124.4 UniProtKB/Swiss-Prot
  ENSP00000345206 ENTREZGENE
  ENSP00000345206.1 UniProtKB/Swiss-Prot
  ENSP00000347659 ENTREZGENE
  ENSP00000347659.4 UniProtKB/Swiss-Prot
  ENSP00000354528.6 UniProtKB/Swiss-Prot
  ENSP00000421804 UniProtKB/TrEMBL
  ENSP00000421804.2 UniProtKB/Swiss-Prot
  ENSP00000422617.1 UniProtKB/TrEMBL
  ENSP00000422838.1 UniProtKB/TrEMBL
  ENSP00000423406.1 UniProtKB/TrEMBL
  ENSP00000423575.1 UniProtKB/TrEMBL
  ENSP00000423644 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000423644.2 UniProtKB/Swiss-Prot
  ENSP00000423703.1 UniProtKB/TrEMBL
  ENSP00000423907.1 UniProtKB/Swiss-Prot
  ENSP00000424459.1 UniProtKB/TrEMBL
  ENSP00000424789.1 UniProtKB/TrEMBL
  ENSP00000424804.2 UniProtKB/TrEMBL
  ENSP00000424989.1 UniProtKB/TrEMBL
  ENSP00000425061.1 UniProtKB/TrEMBL
  ENSP00000425750.1 UniProtKB/TrEMBL
  ENSP00000426872 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000426872.2 UniProtKB/Swiss-Prot
  ENSP00000427170.3 UniProtKB/TrEMBL
  ENSP00000427344.1 UniProtKB/TrEMBL
  ENSP00000504876.1 UniProtKB/TrEMBL
  ENSP00000504925.1 UniProtKB/TrEMBL
  ENSP00000504953.1 UniProtKB/TrEMBL
  ENSP00000504964.1 UniProtKB/Swiss-Prot
  ENSP00000504979.1 UniProtKB/TrEMBL
  ENSP00000505255.1 UniProtKB/Swiss-Prot
  ENSP00000505411.1 UniProtKB/TrEMBL
  ENSP00000505479.1 UniProtKB/TrEMBL
  ENSP00000505493 ENTREZGENE
  ENSP00000505493.1 UniProtKB/Swiss-Prot
  ENSP00000505636 ENTREZGENE
  ENSP00000505636.1 UniProtKB/Swiss-Prot
  ENSP00000505870.1 UniProtKB/TrEMBL
  ENSP00000505922.1 UniProtKB/TrEMBL
  ENSP00000506010.1 UniProtKB/TrEMBL
  ENSP00000506331.1 UniProtKB/TrEMBL
  ENSP00000506443.1 UniProtKB/TrEMBL
  ENSP00000506628.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000342295 ENTREZGENE
  ENST00000342295.6 UniProtKB/Swiss-Prot
  ENST00000342320.8 UniProtKB/Swiss-Prot
  ENST00000345843 ENTREZGENE
  ENST00000345843.8 UniProtKB/Swiss-Prot
  ENST00000348160 ENTREZGENE
  ENST00000348160.9 UniProtKB/Swiss-Prot
  ENST00000355476 ENTREZGENE
  ENST00000355476.8 UniProtKB/Swiss-Prot
  ENST00000361572.10 UniProtKB/Swiss-Prot
  ENST00000504423 UniProtKB/TrEMBL
  ENST00000504423.2 UniProtKB/Swiss-Prot
  ENST00000504907.5 UniProtKB/TrEMBL
  ENST00000504938.1 UniProtKB/TrEMBL
  ENST00000505958 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000505958.6 UniProtKB/Swiss-Prot
  ENST00000506956.5 UniProtKB/TrEMBL
  ENST00000507561.5 UniProtKB/Swiss-Prot
  ENST00000507574.5 UniProtKB/TrEMBL
  ENST00000509158.6 UniProtKB/TrEMBL
  ENST00000510778.7 UniProtKB/TrEMBL
  ENST00000511546.5 UniProtKB/TrEMBL
  ENST00000512351.5 UniProtKB/TrEMBL
  ENST00000512671 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000512671.6 UniProtKB/Swiss-Prot
  ENST00000513182.5 UniProtKB/TrEMBL
  ENST00000514675.5 UniProtKB/TrEMBL
  ENST00000514730.5 UniProtKB/TrEMBL
  ENST00000514807.5 UniProtKB/TrEMBL
  ENST00000515573.5 UniProtKB/TrEMBL
  ENST00000679469.1 UniProtKB/TrEMBL
  ENST00000679698.1 UniProtKB/TrEMBL
  ENST00000680140.1 UniProtKB/TrEMBL
  ENST00000680204.1 UniProtKB/TrEMBL
  ENST00000680210.1 UniProtKB/TrEMBL
  ENST00000680511.1 UniProtKB/TrEMBL
  ENST00000680928 ENTREZGENE
  ENST00000680928.1 UniProtKB/Swiss-Prot
  ENST00000681025.1 UniProtKB/TrEMBL
  ENST00000681093.1 UniProtKB/Swiss-Prot
  ENST00000681260.1 UniProtKB/TrEMBL
  ENST00000681264.1 UniProtKB/Swiss-Prot
  ENST00000681484 ENTREZGENE
  ENST00000681484.1 UniProtKB/Swiss-Prot
  ENST00000681506.1 UniProtKB/TrEMBL
  ENST00000681679.1 UniProtKB/TrEMBL
  ENST00000681799.1 UniProtKB/TrEMBL
  ENST00000681856.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.1450 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000168214 GTEx
HGNC ID HGNC:5724 ENTREZGENE
Human Proteome Map RBPJ Human Proteome Map
InterPro Beta-trefoil_DNA-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BTD_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CLS_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_E-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  p53-like_TF_DNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBP-J/Cbf11/Cbf12_DNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBP-J/Cbf11/Cbf12_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBP-Jkappa_IPT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3516 UniProtKB/Swiss-Prot
NCBI Gene 3516 ENTREZGENE
OMIM 147183 OMIM
  614814 OMIM
PANTHER PTHR10665 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BTD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LAG1-DNAbind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TIG_SUH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34292 PharmGKB
SMART BTD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LAG1_DNAbind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF110217 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49417 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF81296 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A7P0T7Z3_HUMAN UniProtKB/TrEMBL
  A0A7P0T806_HUMAN UniProtKB/TrEMBL
  A0A7P0T821_HUMAN UniProtKB/TrEMBL
  A0A7P0T848_HUMAN UniProtKB/TrEMBL
  A0A7P0T947_HUMAN UniProtKB/TrEMBL
  A0A7P0T964_HUMAN UniProtKB/TrEMBL
  A0A7P0T9W9_HUMAN UniProtKB/TrEMBL
  A0A7P0T9Y9_HUMAN UniProtKB/TrEMBL
  A0A7P0TA33_HUMAN UniProtKB/TrEMBL
  A0A7P0TBJ4_HUMAN UniProtKB/TrEMBL
  A0A7P0Z4N7_HUMAN UniProtKB/TrEMBL
  D6R927_HUMAN UniProtKB/TrEMBL
  D6R946_HUMAN UniProtKB/TrEMBL
  D6R9K5_HUMAN UniProtKB/TrEMBL
  D6R9X3_HUMAN UniProtKB/TrEMBL
  D6RA45_HUMAN UniProtKB/TrEMBL
  D6RAT2_HUMAN UniProtKB/TrEMBL
  D6RB37_HUMAN UniProtKB/TrEMBL
  D6RBQ8_HUMAN UniProtKB/TrEMBL
  D6RCM1_HUMAN UniProtKB/TrEMBL
  D6RE93_HUMAN UniProtKB/TrEMBL
  D6REC2_HUMAN UniProtKB/TrEMBL
  D6REP3_HUMAN UniProtKB/TrEMBL
  D6RF98_HUMAN UniProtKB/TrEMBL
  D6RIV8_HUMAN UniProtKB/TrEMBL
  D6RIZ8_HUMAN UniProtKB/TrEMBL
  H0Y8R3_HUMAN UniProtKB/TrEMBL
  L8E7S3_HUMAN UniProtKB/TrEMBL
  Q06330 ENTREZGENE
  Q6P1N3 ENTREZGENE
  SUH_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4DY22 UniProtKB/Swiss-Prot
  Q5XKH9 UniProtKB/Swiss-Prot
  Q6P1N3 UniProtKB/Swiss-Prot