UBR5 (ubiquitin protein ligase E3 component n-recognin 5) - Rat Genome Database

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Gene: UBR5 (ubiquitin protein ligase E3 component n-recognin 5) Homo sapiens
Analyze
Symbol: UBR5
Name: ubiquitin protein ligase E3 component n-recognin 5
RGD ID: 1605385
HGNC Page HGNC
Description: Exhibits ubiquitin-ubiquitin ligase activity. Involved in several processes, including negative regulation of nitrogen compound metabolic process; positive regulation of protein import into nucleus; and progesterone receptor signaling pathway. Localizes to several cellular components, including cytosol; nucleoplasm; and perinuclear region of cytoplasm. Implicated in invasive ductal carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DD5; E3 identified by differential display; E3 ubiquitin protein ligase, HECT domain containing, 1; E3 ubiquitin-protein ligase UBR5; E3 ubiquitin-protein ligase, HECT domain-containing 1; EDD; EDD1; FLJ11310; HECT-type E3 ubiquitin transferase UBR5; hHYD; HYD; hyperplastic discs protein homolog; KIAA0896; MGC57263; progestin induced protein; progestin-induced protein; ubiquitin-protein ligase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8102,252,273 - 102,412,759 (-)EnsemblGRCh38hg38GRCh38
GRCh388102,252,273 - 102,412,700 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378103,264,501 - 103,424,928 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368103,334,745 - 103,493,671 (-)NCBINCBI36hg18NCBI36
Celera899,450,466 - 99,609,463 (-)NCBI
Cytogenetic Map8q22.3NCBI
HuRef898,463,202 - 98,623,328 (-)NCBIHuRef
CHM1_18103,304,790 - 103,465,221 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Human Phenotype
References

Additional References at PubMed
PMID:10030672   PMID:10048485   PMID:11287654   PMID:11714696   PMID:12011095   PMID:12168954   PMID:12477932   PMID:12594221   PMID:12840015   PMID:12902990   PMID:14702039   PMID:15231748  
PMID:15592455   PMID:16051665   PMID:16055722   PMID:16083285   PMID:16565220   PMID:16601676   PMID:17074762   PMID:17081983   PMID:17148452   PMID:17353931   PMID:17360488   PMID:17620599  
PMID:17643375   PMID:17696464   PMID:17855541   PMID:17897937   PMID:18073532   PMID:18076571   PMID:18349819   PMID:18457437   PMID:18775313   PMID:18976975   PMID:19270065   PMID:19287380  
PMID:19615732   PMID:19946888   PMID:20025491   PMID:20096703   PMID:20351170   PMID:20360068   PMID:20544796   PMID:20805509   PMID:21118991   PMID:21127351   PMID:21145461   PMID:21228227  
PMID:21320693   PMID:21383020   PMID:21726808   PMID:21726813   PMID:21873635   PMID:21942715   PMID:21949371   PMID:22374670   PMID:22496338   PMID:22586326   PMID:22884692   PMID:22939629  
PMID:22990118   PMID:23027739   PMID:23069210   PMID:23254330   PMID:23362280   PMID:23383273   PMID:23407552   PMID:23443559   PMID:23524849   PMID:23612978   PMID:23667531   PMID:23752268  
PMID:23878065   PMID:24058416   PMID:24145130   PMID:24169447   PMID:24255178   PMID:24379240   PMID:24438055   PMID:24441042   PMID:24711643   PMID:24811749   PMID:24981174   PMID:25092319  
PMID:25315684   PMID:25515538   PMID:25594175   PMID:25609649   PMID:25659891   PMID:25756610   PMID:25833949   PMID:26186194   PMID:26224628   PMID:26234678   PMID:26340541   PMID:26344197  
PMID:26438829   PMID:26446488   PMID:26464214   PMID:26485645   PMID:26496610   PMID:26582913   PMID:26598607   PMID:26618866   PMID:26673895   PMID:26687479   PMID:26839216   PMID:26949039  
PMID:26972000   PMID:27432908   PMID:27503909   PMID:27542412   PMID:27590582   PMID:27626314   PMID:27647897   PMID:27721409   PMID:28027390   PMID:28077445   PMID:28190767   PMID:28242748  
PMID:28330616   PMID:28330927   PMID:28332316   PMID:28425671   PMID:28514442   PMID:28515276   PMID:28559278   PMID:28675297   PMID:28689657   PMID:28718761   PMID:28856538   PMID:29053956  
PMID:29117863   PMID:29229926   PMID:29378950   PMID:29395067   PMID:29441938   PMID:29467282   PMID:29476094   PMID:29490077   PMID:29507117   PMID:29507755   PMID:29511261   PMID:29563501  
PMID:29576527   PMID:29643511   PMID:29656893   PMID:29724823   PMID:29742019   PMID:29795372   PMID:29911972   PMID:29955894   PMID:29961565   PMID:29991511   PMID:30038412   PMID:30166453  
PMID:30179224   PMID:30258100   PMID:30508113   PMID:30552140   PMID:30652415   PMID:30699358   PMID:30804394   PMID:30833792   PMID:30836988   PMID:30894683   PMID:31067491   PMID:31073040  
PMID:31091453   PMID:31240132   PMID:31365120   PMID:31413120   PMID:31452512   PMID:31586073   PMID:31586398   PMID:31617661   PMID:31620119   PMID:31753913   PMID:31980649   PMID:32029551  
PMID:32416067   PMID:32468011   PMID:32558906   PMID:32694731   PMID:32867711   PMID:33001583   PMID:33060197   PMID:33122718   PMID:33293516   PMID:33340455  


Genomics

Comparative Map Data
UBR5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8102,252,273 - 102,412,759 (-)EnsemblGRCh38hg38GRCh38
GRCh388102,252,273 - 102,412,700 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378103,264,501 - 103,424,928 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368103,334,745 - 103,493,671 (-)NCBINCBI36hg18NCBI36
Celera899,450,466 - 99,609,463 (-)NCBI
Cytogenetic Map8q22.3NCBI
HuRef898,463,202 - 98,623,328 (-)NCBIHuRef
CHM1_18103,304,790 - 103,465,221 (-)NCBICHM1_1
Ubr5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391537,966,421 - 38,084,103 (-)NCBIGRCm39mm39
GRCm39 Ensembl1537,967,572 - 38,079,098 (-)Ensembl
GRCm381537,967,328 - 38,078,862 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1537,967,328 - 38,078,854 (-)EnsemblGRCm38mm10GRCm38
MGSCv371537,897,083 - 38,008,608 (-)NCBIGRCm37mm9NCBIm37
MGSCv361537,911,917 - 38,023,442 (-)NCBImm8
Celera1538,586,135 - 38,667,882 (-)NCBICelera
Cytogenetic Map15B3.1NCBI
Ubr5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2769,116,758 - 69,224,490 (-)NCBI
Rnor_6.0 Ensembl776,789,531 - 76,853,840 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0776,839,661 - 76,907,441 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0776,789,110 - 76,835,517 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0776,906,390 - 76,952,033 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4773,467,676 - 73,545,246 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1773,488,424 - 73,512,532 (-)NCBI
Celera766,180,320 - 66,255,438 (-)NCBICelera
Cytogenetic Map7q22NCBI
Ubr5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541726,998,513 - 27,083,005 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541726,997,572 - 27,085,511 (-)NCBIChiLan1.0ChiLan1.0
UBR5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18101,066,463 - 101,225,515 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8101,067,435 - 101,224,913 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0898,904,557 - 99,064,121 (-)NCBIMhudiblu_PPA_v0panPan3
UBR5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1133,887,408 - 4,023,364 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl133,879,220 - 4,023,955 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha133,889,598 - 4,025,534 (-)NCBI
ROS_Cfam_1.0134,047,718 - 4,183,993 (-)NCBI
UMICH_Zoey_3.1133,890,615 - 4,026,582 (-)NCBI
UNSW_CanFamBas_1.0134,003,424 - 4,139,385 (-)NCBI
UU_Cfam_GSD_1.0134,020,631 - 4,156,590 (-)NCBI
Ubr5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530333,826,821 - 33,919,659 (+)NCBI
SpeTri2.0NW_00493647041,222,782 - 41,345,755 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UBR5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl434,645,751 - 34,793,940 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1434,645,794 - 34,794,510 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2437,744,470 - 37,783,940 (-)NCBISscrofa10.2Sscrofa10.2susScr3
UBR5
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1897,104,325 - 97,257,317 (-)NCBI
ChlSab1.1 Ensembl897,103,220 - 97,257,440 (-)Ensembl
Vero_WHO_p1.0NW_02366603943,394,343 - 43,547,147 (+)NCBI
Ubr5
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476319,414,582 - 19,530,539 (-)NCBI

Position Markers
A004H21  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378103,265,628 - 103,265,778UniSTSGRCh37
Build 368103,334,804 - 103,334,954RGDNCBI36
Celera899,450,525 - 99,450,675RGD
Cytogenetic Map8q22UniSTS
HuRef898,464,329 - 98,464,479UniSTS
GeneMap99-GB4 RH Map8440.12UniSTS
NCBI RH Map81101.1UniSTS
RH17938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378103,385,385 - 103,385,506UniSTSGRCh37
Build 368103,454,561 - 103,454,682RGDNCBI36
Celera899,570,325 - 99,570,446RGD
Cytogenetic Map8q22UniSTS
HuRef898,583,930 - 98,584,051UniSTS
GeneMap99-GB4 RH Map8439.42UniSTS
NCBI RH Map81107.9UniSTS
SHGC-52495  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378103,278,330 - 103,278,541UniSTSGRCh37
Build 368103,347,506 - 103,347,717RGDNCBI36
Celera899,463,228 - 99,463,439RGD
Cytogenetic Map8q22UniSTS
HuRef898,477,043 - 98,477,254UniSTS
SHGC-142115  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378103,304,955 - 103,305,268UniSTSGRCh37
Build 368103,374,131 - 103,374,444RGDNCBI36
Celera899,489,852 - 99,490,165RGD
Cytogenetic Map8q22UniSTS
HuRef898,503,664 - 98,503,977UniSTS
RH18437  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378103,371,157 - 103,371,283UniSTSGRCh37
Build 368103,440,333 - 103,440,459RGDNCBI36
Celera899,556,100 - 99,556,226RGD
Cytogenetic Map8q22UniSTS
HuRef898,569,706 - 98,569,832UniSTS
GeneMap99-GB4 RH Map8438.39UniSTS
RH48415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378103,379,378 - 103,379,527UniSTSGRCh37
Build 368103,448,554 - 103,448,703RGDNCBI36
Celera899,564,321 - 99,564,470RGD
Cytogenetic Map8q22UniSTS
HuRef898,577,926 - 98,578,075UniSTS
GeneMap99-GB4 RH Map8439.73UniSTS
STS-H27554  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378103,264,525 - 103,264,691UniSTSGRCh37
Build 368103,333,701 - 103,333,867RGDNCBI36
Celera899,449,422 - 99,449,588RGD
Cytogenetic Map8q22UniSTS
HuRef898,463,226 - 98,463,392UniSTS
GeneMap99-GB4 RH Map8439.42UniSTS
NCBI RH Map81107.9UniSTS
RH46007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378103,282,635 - 103,282,785UniSTSGRCh37
Build 368103,351,811 - 103,351,961RGDNCBI36
Celera899,467,533 - 99,467,683RGD
Cytogenetic Map8q22UniSTS
HuRef898,481,348 - 98,481,498UniSTS
GeneMap99-GB4 RH Map8440.32UniSTS
SGC33262  
Human AssemblyChrPosition (strand)SourceJBrowse
Celera882,683,209 - 82,683,358RGD
Cytogenetic Map8q22UniSTS
GeneMap99-GB4 RH Map8440.12UniSTS
Whitehead-RH Map8573.8UniSTS
NCBI RH Map81090.6UniSTS
A006N17  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378103,279,769 - 103,279,995UniSTSGRCh37
Build 368103,348,945 - 103,349,171RGDNCBI36
Celera899,464,667 - 99,464,893RGD
Cytogenetic Map8q22UniSTS
HuRef898,478,482 - 98,478,708UniSTS
GeneMap99-GB4 RH Map8440.12UniSTS
NCBI RH Map81094.1UniSTS
WI-21460  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378103,278,850 - 103,278,997UniSTSGRCh37
Build 368103,348,026 - 103,348,173RGDNCBI36
Celera899,463,748 - 99,463,895RGD
Cytogenetic Map8q22UniSTS
HuRef898,477,563 - 98,477,710UniSTS
GeneMap99-GB4 RH Map8439.42UniSTS
Whitehead-RH Map8576.0UniSTS
NCBI RH Map81101.1UniSTS
A005L32  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378103,385,379 - 103,385,508UniSTSGRCh37
Build 368103,454,555 - 103,454,684RGDNCBI36
Celera899,570,319 - 99,570,448RGD
Cytogenetic Map8q22UniSTS
HuRef898,583,924 - 98,584,053UniSTS
GeneMap99-GB4 RH Map8439.22UniSTS
NCBI RH Map81107.9UniSTS
G20314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378103,385,379 - 103,385,508UniSTSGRCh37
Build 368103,454,555 - 103,454,684RGDNCBI36
Celera899,570,319 - 99,570,448RGD
Cytogenetic Map8q22UniSTS
HuRef898,583,924 - 98,584,053UniSTS
HSC2MD092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378103,265,638 - 103,265,844UniSTSGRCh37
Build 368103,334,814 - 103,335,020RGDNCBI36
Celera899,450,535 - 99,450,741RGD
Cytogenetic Map8q22UniSTS
HuRef898,464,339 - 98,464,545UniSTS
GeneMap99-GB4 RH Map8437.37UniSTS
Whitehead-RH Map8570.7UniSTS
RH15795  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378103,266,187 - 103,266,401UniSTSGRCh37
Build 368103,335,363 - 103,335,577RGDNCBI36
Celera899,451,084 - 99,451,298RGD
Cytogenetic Map8q22UniSTS
HuRef898,464,888 - 98,465,102UniSTS
GeneMap99-GB4 RH Map8440.12UniSTS
NCBI RH Map81016.3UniSTS
EST4E9  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378103,306,196 - 103,306,308UniSTSGRCh37
Build 368103,375,372 - 103,375,484RGDNCBI36
Celera882,679,254 - 82,679,366RGD
Celera899,491,093 - 99,491,205UniSTS
HuRef898,504,905 - 98,505,017UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1785
Count of miRNA genes:844
Interacting mature miRNAs:984
Transcripts:ENST00000220959, ENST00000517465, ENST00000518145, ENST00000518205, ENST00000519365, ENST00000519528, ENST00000520539, ENST00000520898, ENST00000521312, ENST00000521566, ENST00000521767, ENST00000521922, ENST00000522327
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 pharyngeal arch
High
Medium 2368 2070 1355 310 1424 152 4315 1860 2610 262 1427 1596 171 1199 2751 4
Low 68 917 370 313 525 313 41 334 1112 156 29 14 2 1 5 37 2 1
Below cutoff 2 1 1 1 11 1 2 2 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB020703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF006010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK002172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC044598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC151231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX489192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U95000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000220959   ⟹   ENSP00000220959
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8102,253,736 - 102,412,689 (-)Ensembl
RefSeq Acc Id: ENST00000517465
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8102,253,946 - 102,261,986 (-)Ensembl
RefSeq Acc Id: ENST00000518145
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8102,345,896 - 102,347,000 (-)Ensembl
RefSeq Acc Id: ENST00000518205   ⟹   ENSP00000428693
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8102,254,198 - 102,272,931 (-)Ensembl
RefSeq Acc Id: ENST00000519365   ⟹   ENSP00000428138
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8102,298,867 - 102,305,257 (-)Ensembl
RefSeq Acc Id: ENST00000519528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8102,287,505 - 102,293,709 (-)Ensembl
RefSeq Acc Id: ENST00000520539   ⟹   ENSP00000429084
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8102,252,273 - 102,412,700 (-)Ensembl
RefSeq Acc Id: ENST00000520898   ⟹   ENSP00000429127
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8102,298,860 - 102,305,182 (-)Ensembl
RefSeq Acc Id: ENST00000521312
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8102,265,208 - 102,267,435 (-)Ensembl
RefSeq Acc Id: ENST00000521566   ⟹   ENSP00000428062
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8102,271,194 - 102,276,820 (-)Ensembl
RefSeq Acc Id: ENST00000521767
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8102,265,203 - 102,268,718 (-)Ensembl
RefSeq Acc Id: ENST00000521922   ⟹   ENSP00000427819
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8102,254,198 - 102,412,759 (-)Ensembl
RefSeq Acc Id: ENST00000522327
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8102,359,652 - 102,361,209 (-)Ensembl
RefSeq Acc Id: NM_001282873   ⟹   NP_001269802
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388102,252,273 - 102,412,700 (-)NCBI
HuRef898,463,202 - 98,623,328 (-)NCBI
CHM1_18103,304,790 - 103,465,221 (-)NCBI
Sequence:
RefSeq Acc Id: NM_015902   ⟹   NP_056986
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388102,252,273 - 102,412,700 (-)NCBI
GRCh378103,264,501 - 103,424,947 (-)NCBI
Build 368103,334,745 - 103,493,671 (-)NCBI Archive
HuRef898,463,202 - 98,623,328 (-)ENTREZGENE
CHM1_18103,304,790 - 103,465,221 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005250962   ⟹   XP_005251019
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388102,253,897 - 102,302,440 (-)NCBI
GRCh378103,264,501 - 103,424,947 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517104   ⟹   XP_011515406
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388102,253,897 - 102,412,253 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517105   ⟹   XP_011515407
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388102,253,338 - 102,412,253 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011517106   ⟹   XP_011515408
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388102,253,897 - 102,412,253 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013533   ⟹   XP_016869022
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388102,253,338 - 102,412,253 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013534   ⟹   XP_016869023
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388102,253,885 - 102,412,253 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447178   ⟹   XP_024302946
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388102,253,897 - 102,361,591 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024447179   ⟹   XP_024302947
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388102,253,897 - 102,361,591 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001745539
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388102,253,338 - 102,412,253 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001745540
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388102,253,901 - 102,412,253 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001745541
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388102,277,121 - 102,412,253 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_056986   ⟸   NM_015902
- Peptide Label: isoform 1
- UniProtKB: O95071 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005251019   ⟸   XM_005250962
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: NP_001269802   ⟸   NM_001282873
- Peptide Label: isoform 2
- UniProtKB: O95071 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515408   ⟸   XM_011517106
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011515407   ⟸   XM_011517105
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011515406   ⟸   XM_011517104
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016869023   ⟸   XM_017013534
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016869022   ⟸   XM_017013533
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024302947   ⟸   XM_024447179
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_024302946   ⟸   XM_024447178
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: ENSP00000428693   ⟸   ENST00000518205
RefSeq Acc Id: ENSP00000428138   ⟸   ENST00000519365
RefSeq Acc Id: ENSP00000429127   ⟸   ENST00000520898
RefSeq Acc Id: ENSP00000429084   ⟸   ENST00000520539
RefSeq Acc Id: ENSP00000428062   ⟸   ENST00000521566
RefSeq Acc Id: ENSP00000427819   ⟸   ENST00000521922
RefSeq Acc Id: ENSP00000220959   ⟸   ENST00000220959
Protein Domains
HECT   PABC   UBR-type

Promoters
RGD ID:7213925
Promoter ID:EPDNEW_H12708
Type:initiation region
Name:UBR5_1
Description:ubiquitin protein ligase E3 component n-recognin 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388102,412,700 - 102,412,760EPDNEW
RGD ID:6806841
Promoter ID:HG_KWN:61837
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC003YKQ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 368103,348,679 - 103,349,179 (-)MPROMDB
RGD ID:6807095
Promoter ID:HG_KWN:61839
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_015902,   UC003YKS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368103,493,346 - 103,494,517 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q22.3(chr8:101962098-103357772)x3 copy number gain See cases [RCV000050760] Chr8:101962098..103357772 [GRCh38]
Chr8:102974326..104370000 [GRCh37]
Chr8:103043502..104439176 [NCBI36]
Chr8:8q22.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_015902.5(UBR5):c.939C>T (p.Ser313=) single nucleotide variant Malignant melanoma [RCV000068059] Chr8:102342632 [GRCh38]
Chr8:103354860 [GRCh37]
Chr8:103424036 [NCBI36]
Chr8:8q22.3
not provided
NM_015902.5(UBR5):c.899C>T (p.Pro300Leu) single nucleotide variant Malignant melanoma [RCV000068060] Chr8:102342672 [GRCh38]
Chr8:103354900 [GRCh37]
Chr8:103424076 [NCBI36]
Chr8:8q22.3
not provided
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101884819-107356143)x1 copy number loss See cases [RCV000134099] Chr8:101884819..107356143 [GRCh38]
Chr8:102897047..108368371 [GRCh37]
Chr8:102966223..108437547 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101199826-105802098)x1 copy number loss See cases [RCV000136812] Chr8:101199826..105802098 [GRCh38]
Chr8:102212054..106814326 [GRCh37]
Chr8:102281230..106883502 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1 copy number loss See cases [RCV000138134] Chr8:101171263..109127664 [GRCh38]
Chr8:102183491..110139893 [GRCh37]
Chr8:102252667..110209069 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8q22.2-23.1(chr8:100179408-106524667)x1 copy number loss See cases [RCV000141697] Chr8:100179408..106524667 [GRCh38]
Chr8:101191636..107536895 [GRCh37]
Chr8:101260812..107606071 [NCBI36]
Chr8:8q22.2-23.1
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
NM_015902.6(UBR5):c.2965C>T (p.Arg989Trp) single nucleotide variant Long QT syndrome [RCV000190238] Chr8:102300141 [GRCh38]
Chr8:103312369 [GRCh37]
Chr8:8q22.3
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.3(chr8:103131039-103661336)x3 copy number gain See cases [RCV000447650] Chr8:103131039..103661336 [GRCh37]
Chr8:8q22.3
uncertain significance
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.3(chr8:102590127-104034598)x1 copy number loss See cases [RCV000511503] Chr8:102590127..104034598 [GRCh37]
Chr8:8q22.3
likely pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
NM_015902.6(UBR5):c.6590G>C (p.Gly2197Ala) single nucleotide variant not provided [RCV000678301] Chr8:102275748 [GRCh38]
Chr8:103287976 [GRCh37]
Chr8:8q22.3
uncertain significance
GRCh37/hg19 8q22.3(chr8:102584167-104236192)x1 copy number loss not provided [RCV000683013] Chr8:102584167..104236192 [GRCh37]
Chr8:8q22.3
likely pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8q22.2-22.3(chr8:100551211-103676738)x1 copy number loss not provided [RCV000683023] Chr8:100551211..103676738 [GRCh37]
Chr8:8q22.2-22.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.3(chr8:103420680-103604941)x3 copy number gain not provided [RCV000762714] Chr8:103420680..103604941 [GRCh37]
Chr8:8q22.3
likely benign
GRCh37/hg19 8q22.3(chr8:103137438-103335671)x3 copy number gain not provided [RCV000762715] Chr8:103137438..103335671 [GRCh37]
Chr8:8q22.3
likely benign
NM_015902.6(UBR5):c.2008-9_2008-8del microsatellite not provided [RCV000947122] Chr8:102312493..102312494 [GRCh38]
Chr8:103324721..103324722 [GRCh37]
Chr8:8q22.3
benign
NM_015902.6(UBR5):c.3693C>T (p.Tyr1231=) single nucleotide variant not provided [RCV000884545] Chr8:102295755 [GRCh38]
Chr8:103307983 [GRCh37]
Chr8:8q22.3
likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.3(chr8:103317285-103538707)x3 copy number gain not provided [RCV000847913] Chr8:103317285..103538707 [GRCh37]
Chr8:8q22.3
uncertain significance
NM_015902.6(UBR5):c.577-10T>C single nucleotide variant not provided [RCV000892611] Chr8:102346405 [GRCh38]
Chr8:103358633 [GRCh37]
Chr8:8q22.3
benign
GRCh37/hg19 8q22.3(chr8:103287794-103400189)x1 copy number loss not provided [RCV000849888] Chr8:103287794..103400189 [GRCh37]
Chr8:8q22.3
uncertain significance
GRCh37/hg19 8q22.3(chr8:103237328-103367599)x3 copy number gain not provided [RCV000845725] Chr8:103237328..103367599 [GRCh37]
Chr8:8q22.3
uncertain significance
NM_015902.6(UBR5):c.1482-14dup duplication not provided [RCV000971285] Chr8:102326671..102326672 [GRCh38]
Chr8:103338899..103338900 [GRCh37]
Chr8:8q22.3
benign
NM_015902.6(UBR5):c.3819G>A (p.Glu1273=) single nucleotide variant not provided [RCV000890773] Chr8:102295526 [GRCh38]
Chr8:103307754 [GRCh37]
Chr8:8q22.3
benign
GRCh37/hg19 8q22.3(chr8:103152797-103408155)x3 copy number gain not provided [RCV001259023] Chr8:103152797..103408155 [GRCh37]
Chr8:8q22.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16806 AgrOrtholog
COSMIC UBR5 COSMIC
Ensembl Genes ENSG00000104517 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000220959 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427819 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000428062 UniProtKB/TrEMBL
  ENSP00000428138 UniProtKB/TrEMBL
  ENSP00000428693 UniProtKB/TrEMBL
  ENSP00000429084 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000429127 UniProtKB/TrEMBL
Ensembl Transcript ENST00000220959 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000518205 UniProtKB/TrEMBL
  ENST00000519365 UniProtKB/TrEMBL
  ENST00000520539 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000520898 UniProtKB/TrEMBL
  ENST00000521566 UniProtKB/TrEMBL
  ENST00000521922 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000104517 GTEx
HGNC ID HGNC:16806 ENTREZGENE
Human Proteome Map UBR5 Human Proteome Map
InterPro E3_UbLigase_EDD_UBA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HECT_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hect_E3_ubiquitin_ligase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PABP-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PABP_HYD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RCC1/BLIP-II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_UBR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51366 UniProtKB/Swiss-Prot
NCBI Gene 51366 ENTREZGENE
OMIM 608413 OMIM
Pfam E3_UbLigase_EDD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HECT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PABP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162408175 PharmGKB
PROSITE HECT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PABC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_UBR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HECTc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PolyA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_UBR1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50985 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56204 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF63570 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E5RFK7_HUMAN UniProtKB/TrEMBL
  E7EMW7_HUMAN UniProtKB/TrEMBL
  E7ET84_HUMAN UniProtKB/TrEMBL
  H0YAV7_HUMAN UniProtKB/TrEMBL
  H0YBB4_HUMAN UniProtKB/TrEMBL
  L8E894_HUMAN UniProtKB/TrEMBL
  O95071 ENTREZGENE
  Q49A65_HUMAN UniProtKB/TrEMBL
  UBR5_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2RP24 UniProtKB/Swiss-Prot
  J3KMW7 UniProtKB/Swiss-Prot
  O94970 UniProtKB/Swiss-Prot
  Q9NPL3 UniProtKB/Swiss-Prot