HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1) - Rat Genome Database

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Gene: HUWE1 (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1) Homo sapiens
Analyze
Symbol: HUWE1
Name: HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
RGD ID: 1343412
HGNC Page HGNC
Description: Exhibits ubiquitin protein ligase activity. Involved in several processes, including circadian regulation of gene expression; negative regulation of mitochondrial fusion; and protein ubiquitination. Localizes to cytosol and nucleoplasm. Implicated in syndromic X-linked intellectual disability Turner type.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ARF binding protein 1; ARF-binding protein 1; ARF-BP1; BJ-HCC-24 tumor antigen; E3 ubiquitin-protein ligase HUWE1; HECT domain protein LASU1; HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase; HECT, UBA and WWE domain-containing protein 1; HECT-type E3 ubiquitin transferase HUWE1; HECTH9; homologous to E6AP carboxyl terminus homologous protein 9; HSPC272; Ib772; KIAA0312; large structure of UREB1; LASU1; Mcl-1 ubiquitin ligase E3; MRXST; MULE; upstream regulatory element-binding protein 1; URE-B1; URE-binding protein 1; UREB1
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 EnsemblX53,532,096 - 53,686,728 (-)EnsemblGRCh38hg38GRCh38
GRCh38X53,532,096 - 53,686,723 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X53,559,057 - 53,713,664 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X53,576,476 - 53,697,776 (-)NCBINCBI36hg18NCBI36
CeleraX57,390,630 - 57,545,232 (-)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX50,615,901 - 50,769,910 (-)NCBIHuRef
CHM1_1X53,550,037 - 53,704,948 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Human Phenotype
Absent speech  (IAGP)
Blepharophimosis  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Broad nasal tip  (IAGP)
Bulbous nose  (IAGP)
Camptodactyly  (IAGP)
Cerebral atrophy  (IAGP)
Clinodactyly  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Cupped ear  (IAGP)
Deeply set eye  (IAGP)
Delayed ability to walk  (IAGP)
Delayed skeletal maturation  (IAGP)
Delayed speech and language development  (IAGP)
Depressed nasal bridge  (IAGP)
Downslanted palpebral fissures  (IAGP)
Epicanthus inversus  (IAGP)
Esotropia  (IAGP)
Flexion contracture  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Hyperactivity  (IAGP)
Hypermetropia  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypospadias  (IAGP)
Hypotelorism  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Long face  (IAGP)
Long philtrum  (IAGP)
Low posterior hairline  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Myopia  (IAGP)
Narrow mouth  (IAGP)
Neurodevelopmental abnormality  (IAGP)
Nystagmus  (IAGP)
Oligodontia  (IAGP)
Optic atrophy  (IAGP)
Overlapping toe  (IAGP)
Pectus excavatum  (IAGP)
Poor coordination  (IAGP)
Posteriorly rotated ears  (IAGP)
Protruding ear  (IAGP)
Ptosis  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short foot  (IAGP)
Short nose  (IAGP)
Short palpebral fissure  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Sleep disturbance  (IAGP)
Small for gestational age  (IAGP)
Small hand  (IAGP)
Small nail  (IAGP)
Spastic diplegia  (IAGP)
Stereotypy  (IAGP)
Strabismus  (IAGP)
Tapered finger  (IAGP)
Thick lower lip vermilion  (IAGP)
Thin upper lip vermilion  (IAGP)
Triangular face  (IAGP)
Trigonocephaly  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventriculomegaly  (IAGP)
Wide mouth  (IAGP)
X-linked inheritance  (IAGP)
References

Additional References at PubMed
PMID:7478539   PMID:7943042   PMID:7968380   PMID:8125298   PMID:9205841   PMID:9575161   PMID:10997877   PMID:10998601   PMID:11042152   PMID:12477932   PMID:14702039   PMID:15231748  
PMID:15302935   PMID:15489334   PMID:15567145   PMID:15767685   PMID:15772651   PMID:15840729   PMID:15989956   PMID:15989957   PMID:16213503   PMID:16269333   PMID:16964243   PMID:17081983  
PMID:17314511   PMID:17478428   PMID:17550899   PMID:17567951   PMID:18029348   PMID:18187620   PMID:18252223   PMID:18488021   PMID:18598940   PMID:18775313   PMID:19013454   PMID:19028597  
PMID:19056867   PMID:19148187   PMID:19490893   PMID:19596235   PMID:19615732   PMID:19713937   PMID:19946888   PMID:20007713   PMID:20023629   PMID:20164180   PMID:20467437   PMID:20534529  
PMID:20624960   PMID:21145461   PMID:21167302   PMID:21298030   PMID:21507240   PMID:21522127   PMID:21613222   PMID:21726556   PMID:21730980   PMID:21846774   PMID:21873635   PMID:21907705  
PMID:21910689   PMID:22016339   PMID:22174317   PMID:22190034   PMID:22203964   PMID:22213803   PMID:22268729   PMID:22277673   PMID:22370481   PMID:22552282   PMID:22561347   PMID:22586326  
PMID:22658674   PMID:22748923   PMID:22754359   PMID:22840365   PMID:22863883   PMID:22939629   PMID:22944692   PMID:23209776   PMID:23254330   PMID:23314748   PMID:23349634   PMID:23383273  
PMID:23438482   PMID:23443559   PMID:23602568   PMID:23652204   PMID:23752268   PMID:24270810   PMID:24303071   PMID:24342616   PMID:24443563   PMID:24472556   PMID:24643799   PMID:24711643  
PMID:24743594   PMID:24797263   PMID:24811749   PMID:24960692   PMID:24981174   PMID:25022756   PMID:25147182   PMID:25253726   PMID:25277244   PMID:25281560   PMID:25515538   PMID:25543140  
PMID:25609649   PMID:25652354   PMID:25665578   PMID:25693804   PMID:25723849   PMID:25737280   PMID:25752541   PMID:25756610   PMID:25814554   PMID:25883150   PMID:25921289   PMID:26212014  
PMID:26214738   PMID:26217791   PMID:26279298   PMID:26296893   PMID:26344197   PMID:26393420   PMID:26446488   PMID:26485645   PMID:26496610   PMID:26498360   PMID:26519477   PMID:26618866  
PMID:26687479   PMID:26711340   PMID:26949039   PMID:26972000   PMID:27130160   PMID:27146073   PMID:27342126   PMID:27375898   PMID:27503909   PMID:27517496   PMID:27517746   PMID:27542412  
PMID:27578003   PMID:27581931   PMID:27626314   PMID:27634302   PMID:27668798   PMID:27684187   PMID:27880917   PMID:27901130   PMID:27934968   PMID:28027390   PMID:28077445   PMID:28084302  
PMID:28137758   PMID:28137882   PMID:28148912   PMID:28169274   PMID:28190767   PMID:28193319   PMID:28205209   PMID:28378594   PMID:28425671   PMID:28515276   PMID:28581483   PMID:28611215  
PMID:28675297   PMID:28687618   PMID:28846114   PMID:28902428   PMID:28943312   PMID:29117863   PMID:29118367   PMID:29127375   PMID:29128334   PMID:29180823   PMID:29229926   PMID:29285303  
PMID:29331071   PMID:29346117   PMID:29357390   PMID:29378950   PMID:29467282   PMID:29507117   PMID:29507755   PMID:29509190   PMID:29563501   PMID:29568061   PMID:29615496   PMID:29643511  
PMID:29676528   PMID:29738775   PMID:29799788   PMID:29844126   PMID:29871923   PMID:29911972   PMID:29955894   PMID:29964046   PMID:29966975   PMID:29991511   PMID:30021884   PMID:30026863  
PMID:30042175   PMID:30097533   PMID:30217973   PMID:30340022   PMID:30397336   PMID:30455355   PMID:30463901   PMID:30575818   PMID:30721695   PMID:30796242   PMID:30797980   PMID:30818224  
PMID:30833792   PMID:30940648   PMID:30948266   PMID:31024071   PMID:31067453   PMID:31073040   PMID:31091453   PMID:31201299   PMID:31279706   PMID:31300519   PMID:31343991   PMID:31570706  
PMID:31586073   PMID:31677785   PMID:31699778   PMID:31713291   PMID:31732153   PMID:31822558   PMID:31904842   PMID:31980388   PMID:31980649   PMID:31985874   PMID:32017279   PMID:32203420  
PMID:32457219   PMID:32457294   PMID:32523091   PMID:32537647   PMID:32738194   PMID:32786267   PMID:32877691   PMID:33104527   PMID:33116152   PMID:33144569  


Genomics

Comparative Map Data
HUWE1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX53,532,096 - 53,686,728 (-)EnsemblGRCh38hg38GRCh38
GRCh38X53,532,096 - 53,686,723 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X53,559,057 - 53,713,664 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X53,576,476 - 53,697,776 (-)NCBINCBI36hg18NCBI36
CeleraX57,390,630 - 57,545,232 (-)NCBI
Cytogenetic MapXp11.22NCBI
HuRefX50,615,901 - 50,769,910 (-)NCBIHuRef
CHM1_1X53,550,037 - 53,704,948 (-)NCBICHM1_1
Huwe1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X150,583,779 - 150,718,413 (+)NCBIGRCm39mm39
GRCm39 EnsemblX150,583,803 - 150,718,413 (+)Ensembl
GRCm38X151,800,785 - 151,935,417 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX151,800,807 - 151,935,417 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X148,237,825 - 148,369,960 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X147,144,043 - 147,275,608 (+)NCBImm8
CeleraX132,494,924 - 132,629,529 (-)NCBICelera
Cytogenetic MapXF3NCBI
Huwe1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X20,871,278 - 21,001,378 (+)NCBI
Rnor_6.0 EnsemblX21,499,934 - 21,598,876 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X21,474,627 - 21,603,348 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X23,634,031 - 23,635,008 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0X21,848,515 - 21,950,709 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X41,269,837 - 41,397,687 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX21,152,936 - 21,282,567 (+)NCBICelera
Cytogenetic MapXq13NCBI
Huwe1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955475551,159 - 671,747 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955475550,643 - 671,771 (-)NCBIChiLan1.0ChiLan1.0
HUWE1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X53,855,404 - 54,005,383 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX53,855,404 - 54,005,366 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X45,746,228 - 45,897,250 (-)NCBIMhudiblu_PPA_v0panPan3
HUWE1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X45,234,666 - 45,409,641 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX45,234,322 - 45,410,043 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX36,751,409 - 36,836,872 (-)NCBI
ROS_Cfam_1.0X45,559,669 - 45,734,540 (-)NCBI
UMICH_Zoey_3.1X45,054,717 - 45,229,543 (-)NCBI
UNSW_CanFamBas_1.0X45,504,350 - 45,679,158 (-)NCBI
UU_Cfam_GSD_1.0X45,571,951 - 45,747,074 (-)NCBI
Huwe1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X38,139,253 - 38,283,118 (-)NCBI
SpeTri2.0NW_004936751478,978 - 622,818 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HUWE1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX46,282,415 - 46,441,623 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X46,281,958 - 46,444,315 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X51,780,471 - 51,942,782 (-)NCBISscrofa10.2Sscrofa10.2susScr3
HUWE1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X49,661,506 - 49,814,551 (-)NCBI
ChlSab1.1 EnsemblX49,660,790 - 49,808,572 (-)Ensembl
Huwe1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624909745,141 - 891,421 (-)NCBI

Position Markers
AL023918  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,645,863 - 53,646,042UniSTSGRCh37
Build 36X53,662,588 - 53,662,767RGDNCBI36
CeleraX57,477,426 - 57,477,605RGD
Cytogenetic MapXp11.22UniSTS
HuRefX50,701,797 - 50,701,976UniSTS
RH66308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,559,931 - 53,560,080UniSTSGRCh37
Build 36X53,576,656 - 53,576,805RGDNCBI36
CeleraX57,391,498 - 57,391,647RGD
Cytogenetic MapXp11.22UniSTS
HuRefX50,616,772 - 50,616,921UniSTS
GeneMap99-GB4 RH MapX164.35UniSTS
NCBI RH MapX290.3UniSTS
RH79713  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,637,802 - 53,638,093UniSTSGRCh37
Build 36X53,654,527 - 53,654,818RGDNCBI36
CeleraX57,469,365 - 57,469,656RGD
Cytogenetic MapXp11.22UniSTS
HuRefX50,693,736 - 50,694,027UniSTS
GeneMap99-GB4 RH MapX159.65UniSTS
SHGC-80022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,585,775 - 53,586,089UniSTSGRCh37
Build 36X53,602,500 - 53,602,814RGDNCBI36
CeleraX57,417,344 - 57,417,658RGD
Cytogenetic MapXp11.22UniSTS
HuRefX50,641,735 - 50,642,049UniSTS
TNG Radiation Hybrid MapX13540.0UniSTS
RH118662  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,671,594 - 53,671,911UniSTSGRCh37
Build 36X53,688,319 - 53,688,636RGDNCBI36
CeleraX57,503,155 - 57,503,472RGD
Cytogenetic MapXp11.22UniSTS
HuRefX50,727,463 - 50,727,780UniSTS
TNG Radiation Hybrid MapX14004.0UniSTS
AL023608  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,563,316 - 53,563,485UniSTSGRCh37
Build 36X53,580,041 - 53,580,210RGDNCBI36
CeleraX57,394,883 - 57,395,052RGD
Cytogenetic MapXp11.22UniSTS
GDB:314533  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,592,960 - 53,593,166UniSTSGRCh37
Build 36X53,609,685 - 53,609,891RGDNCBI36
CeleraX57,424,529 - 57,424,733RGD
Cytogenetic MapXp11.22UniSTS
HuRefX50,648,921 - 50,649,125UniSTS
WI-19261  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,559,798 - 53,560,075UniSTSGRCh37
Build 36X53,576,523 - 53,576,800RGDNCBI36
CeleraX57,391,365 - 57,391,642RGD
Cytogenetic MapXp11.22UniSTS
HuRefX50,616,639 - 50,616,916UniSTS
GeneMap99-GB4 RH MapX164.31UniSTS
Whitehead-RH MapX87.8UniSTS
RH11216  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,559,116 - 53,559,219UniSTSGRCh37
Build 36X53,575,841 - 53,575,944RGDNCBI36
CeleraX57,390,683 - 57,390,786RGD
Cytogenetic MapXp11.22UniSTS
HuRefX50,615,960 - 50,616,063UniSTS
GeneMap99-GB4 RH MapX163.3UniSTS
NCBI RH MapX290.3UniSTS
WI-14649  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,559,101 - 53,559,212UniSTSGRCh37
Build 36X53,575,826 - 53,575,937RGDNCBI36
CeleraX57,390,668 - 57,390,779RGD
Cytogenetic MapXp11.22UniSTS
HuRefX50,615,945 - 50,616,056UniSTS
GeneMap99-GB4 RH MapX166.8UniSTS
Whitehead-RH MapX86.9UniSTS
NCBI RH MapX290.3UniSTS
RH46399  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,607,417 - 53,607,549UniSTSGRCh37
Build 36X53,624,142 - 53,624,274RGDNCBI36
CeleraX57,438,980 - 57,439,112RGD
Cytogenetic MapXp11.22UniSTS
HuRefX50,662,317 - 50,662,449UniSTS
GeneMap99-GB4 RH MapX163.3UniSTS
NCBI RH MapX290.3UniSTS
DXS8230  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,624,575 - 53,624,635UniSTSGRCh37
GRCh37X53,551,507 - 53,551,567UniSTSGRCh37
Build 36X53,568,232 - 53,568,292RGDNCBI36
CeleraX57,383,070 - 57,383,130RGD
CeleraX57,456,138 - 57,456,198UniSTS
Cytogenetic MapXp11.22UniSTS
HuRefX50,608,367 - 50,608,427UniSTS
HuRefX50,680,552 - 50,680,612UniSTS
IB772  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,559,917 - 53,560,081UniSTSGRCh37
Build 36X53,576,642 - 53,576,806RGDNCBI36
CeleraX57,391,484 - 57,391,648RGD
Cytogenetic MapXp11.22UniSTS
HuRefX50,616,758 - 50,616,922UniSTS
GeneMap99-GB4 RH MapX164.31UniSTS
Whitehead-RH MapX95.4UniSTS
NCBI RH MapX290.3UniSTS
WI-12365  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,635,633 - 53,635,782UniSTSGRCh37
Build 36X53,652,358 - 53,652,507RGDNCBI36
CeleraX57,467,196 - 57,467,345RGD
Cytogenetic MapXp11.22UniSTS
HuRefX50,691,522 - 50,691,671UniSTS
GeneMap99-GB4 RH MapX166.5UniSTS
Whitehead-RH MapX95.2UniSTS
NCBI RH MapX290.3UniSTS
L77820  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,659,304 - 53,659,448UniSTSGRCh37
Build 36X53,676,029 - 53,676,173RGDNCBI36
CeleraX57,490,865 - 57,491,009RGD
Cytogenetic MapXp11.22UniSTS
HuRefX50,715,242 - 50,715,386UniSTS
MARC_5969-5970:991939821:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,560,336 - 53,561,135UniSTSGRCh37
GRCh37X53,560,336 - 53,561,134UniSTSGRCh37
Build 36X53,577,061 - 53,577,859RGDNCBI36
CeleraX57,391,903 - 57,392,701RGD
CeleraX57,391,903 - 57,392,702UniSTS
HuRefX50,617,177 - 50,617,976UniSTS
HuRefX50,617,177 - 50,617,975UniSTS
MARC_15341-15342:1017678837:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,570,854 - 53,571,661UniSTSGRCh37
Build 36X53,587,579 - 53,588,386RGDNCBI36
CeleraX57,402,423 - 57,403,230RGD
HuRefX50,626,310 - 50,627,117UniSTS
RH65358  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,619,547 - 53,620,457UniSTSGRCh37
CeleraX57,451,110 - 57,452,020UniSTS
Cytogenetic MapXp11.22UniSTS
HuRefX50,675,524 - 50,676,434UniSTS
MARC_6753-6754:992007394:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X53,561,601 - 53,562,404UniSTSGRCh37
CeleraX57,393,168 - 57,393,971UniSTS
HuRefX50,618,442 - 50,619,245UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR30C2hsa-miR-30c-2-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
MIR660hsa-miR-660-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:6094
Count of miRNA genes:1272
Interacting mature miRNAs:1636
Transcripts:ENST00000218328, ENST00000262854, ENST00000342160, ENST00000424562, ENST00000426907, ENST00000427052, ENST00000446750, ENST00000463852, ENST00000468322, ENST00000471676, ENST00000474288, ENST00000474971, ENST00000480438, ENST00000488459, ENST00000489876
Prediction methods:Microtar, Miranda, Pita, 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 2427 2234 1586 490 1382 332 4356 2050 3430 367 1444 1604 172 1204 2788 4
Low 12 756 140 134 568 133 147 304 52 16 9 3 1 2 2
Below cutoff 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_031407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005261965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB002310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB071605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC231658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF057569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF161390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL592046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY772009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY929612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC072421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG334536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU619074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX323845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK002817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS228272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ097177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R60532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z94044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z97054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000218328
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,584,211 - 53,686,728 (-)Ensembl
RefSeq Acc Id: ENST00000262854   ⟹   ENSP00000262854
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,532,096 - 53,686,719 (-)Ensembl
RefSeq Acc Id: ENST00000342160   ⟹   ENSP00000340648
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,532,096 - 53,684,169 (-)Ensembl
RefSeq Acc Id: ENST00000426907   ⟹   ENSP00000403236
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,532,096 - 53,549,505 (-)Ensembl
RefSeq Acc Id: ENST00000446750   ⟹   ENSP00000413651
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,647,441 - 53,684,169 (-)Ensembl
RefSeq Acc Id: ENST00000463852
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,539,657 - 53,542,872 (-)Ensembl
RefSeq Acc Id: ENST00000468322   ⟹   ENSP00000483891
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,542,443 - 53,547,809 (-)Ensembl
RefSeq Acc Id: ENST00000471676
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,630,873 - 53,631,752 (-)Ensembl
RefSeq Acc Id: ENST00000474288
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,543,710 - 53,548,052 (-)Ensembl
RefSeq Acc Id: ENST00000474971
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,535,927 - 53,536,651 (-)Ensembl
RefSeq Acc Id: ENST00000480438
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,537,264 - 53,538,467 (-)Ensembl
RefSeq Acc Id: ENST00000488459
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,533,542 - 53,534,659 (-)Ensembl
RefSeq Acc Id: ENST00000489876
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,615,770 - 53,625,478 (-)Ensembl
RefSeq Acc Id: ENST00000612484   ⟹   ENSP00000479451
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,532,096 - 53,654,107 (-)Ensembl
RefSeq Acc Id: ENST00000622887   ⟹   ENSP00000484417
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX53,624,620 - 53,628,526 (-)Ensembl
RefSeq Acc Id: NM_031407   ⟹   NP_113584
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,532,096 - 53,686,719 (-)NCBI
GRCh37X53,559,057 - 53,713,697 (-)NCBI
Build 36X53,576,476 - 53,697,776 (-)NCBI Archive
HuRefX50,615,901 - 50,769,887 (-)NCBI
CHM1_1X53,550,037 - 53,704,948 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005261965   ⟹   XP_005262022
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,532,790 - 53,684,143 (-)NCBI
GRCh37X53,559,057 - 53,713,697 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530747   ⟹   XP_011529049
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,532,790 - 53,686,723 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530751   ⟹   XP_011529053
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,532,790 - 53,683,820 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029191   ⟹   XP_016884680
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,532,790 - 53,651,942 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029192   ⟹   XP_016884681
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,532,790 - 53,651,942 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029193   ⟹   XP_016884682
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,532,790 - 53,651,942 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029194   ⟹   XP_016884683
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,532,790 - 53,651,942 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029195   ⟹   XP_016884684
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,532,790 - 53,651,942 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029196   ⟹   XP_016884685
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,532,790 - 53,651,942 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029197   ⟹   XP_016884686
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,532,790 - 53,651,942 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029198   ⟹   XP_016884687
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,532,790 - 53,684,143 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029199   ⟹   XP_016884688
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,532,790 - 53,686,723 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029200   ⟹   XP_016884689
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,532,790 - 53,684,284 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029201   ⟹   XP_016884690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,532,790 - 53,683,491 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029202   ⟹   XP_016884691
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,532,790 - 53,686,263 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029203   ⟹   XP_016884692
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,532,790 - 53,683,821 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029204   ⟹   XP_016884693
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,532,790 - 53,651,941 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029206   ⟹   XP_016884695
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,532,790 - 53,651,942 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452322   ⟹   XP_024308090
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,532,790 - 53,684,286 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_113584 (Get FASTA)   NCBI Sequence Viewer  
  XP_005262022 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529049 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529053 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884680 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884681 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884682 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884683 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884684 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884685 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884686 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884687 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884688 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884689 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884690 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884691 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884692 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884693 (Get FASTA)   NCBI Sequence Viewer  
  XP_016884695 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308090 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC62492 (Get FASTA)   NCBI Sequence Viewer  
  AAF28950 (Get FASTA)   NCBI Sequence Viewer  
  AAH02602 (Get FASTA)   NCBI Sequence Viewer  
  AAH18750 (Get FASTA)   NCBI Sequence Viewer  
  AAH38184 (Get FASTA)   NCBI Sequence Viewer  
  AAH63505 (Get FASTA)   NCBI Sequence Viewer  
  AAI07577 (Get FASTA)   NCBI Sequence Viewer  
  AAV90838 (Get FASTA)   NCBI Sequence Viewer  
  AAX24125 (Get FASTA)   NCBI Sequence Viewer  
  AAY98258 (Get FASTA)   NCBI Sequence Viewer  
  BAA20771 (Get FASTA)   NCBI Sequence Viewer  
  BAC06833 (Get FASTA)   NCBI Sequence Viewer  
  BAD96887 (Get FASTA)   NCBI Sequence Viewer  
  BAG57767 (Get FASTA)   NCBI Sequence Viewer  
  CAB82393 (Get FASTA)   NCBI Sequence Viewer  
  CAG33094 (Get FASTA)   NCBI Sequence Viewer  
  CAI39578 (Get FASTA)   NCBI Sequence Viewer  
  CAI39579 (Get FASTA)   NCBI Sequence Viewer  
  CAI39580 (Get FASTA)   NCBI Sequence Viewer  
  CAI39581 (Get FASTA)   NCBI Sequence Viewer  
  CAI42351 (Get FASTA)   NCBI Sequence Viewer  
  CAI42352 (Get FASTA)   NCBI Sequence Viewer  
  CAI42353 (Get FASTA)   NCBI Sequence Viewer  
  CAI42354 (Get FASTA)   NCBI Sequence Viewer  
  CAI42644 (Get FASTA)   NCBI Sequence Viewer  
  CAI42654 (Get FASTA)   NCBI Sequence Viewer  
  CAI42656 (Get FASTA)   NCBI Sequence Viewer  
  CAJ47378 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43744 (Get FASTA)   NCBI Sequence Viewer  
  EAW93160 (Get FASTA)   NCBI Sequence Viewer  
  EAW93161 (Get FASTA)   NCBI Sequence Viewer  
  EAW93162 (Get FASTA)   NCBI Sequence Viewer  
  EAW93163 (Get FASTA)   NCBI Sequence Viewer  
  EAW93164 (Get FASTA)   NCBI Sequence Viewer  
  EAW93165 (Get FASTA)   NCBI Sequence Viewer  
  EAW93166 (Get FASTA)   NCBI Sequence Viewer  
  Q7Z6Z7 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_113584   ⟸   NM_031407
- UniProtKB: Q7Z6Z7 (UniProtKB/Swiss-Prot),   A0A024R9W5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005262022   ⟸   XM_005261965
- Peptide Label: isoform X11
- UniProtKB: Q7Z6Z7 (UniProtKB/Swiss-Prot),   A0A024R9W5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011529049   ⟸   XM_011530747
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011529053   ⟸   XM_011530751
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016884688   ⟸   XM_017029199
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016884691   ⟸   XM_017029202
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016884689   ⟸   XM_017029200
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016884687   ⟸   XM_017029198
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016884692   ⟸   XM_017029203
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016884690   ⟸   XM_017029201
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016884682   ⟸   XM_017029193
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016884685   ⟸   XM_017029196
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016884681   ⟸   XM_017029192
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016884695   ⟸   XM_017029206
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_016884686   ⟸   XM_017029197
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016884684   ⟸   XM_017029195
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016884683   ⟸   XM_017029194
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016884680   ⟸   XM_017029191
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016884693   ⟸   XM_017029204
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_024308090   ⟸   XM_024452322
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: ENSP00000484417   ⟸   ENST00000622887
RefSeq Acc Id: ENSP00000403236   ⟸   ENST00000426907
RefSeq Acc Id: ENSP00000483891   ⟸   ENST00000468322
RefSeq Acc Id: ENSP00000479451   ⟸   ENST00000612484
RefSeq Acc Id: ENSP00000413651   ⟸   ENST00000446750
RefSeq Acc Id: ENSP00000262854   ⟸   ENST00000262854
RefSeq Acc Id: ENSP00000340648   ⟸   ENST00000342160
Protein Domains
DUF908   DUF913   HECT   UBA   UIM   WWE

Promoters
RGD ID:6808928
Promoter ID:HG_KWN:66928
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000056769
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,577,866 - 53,579,207 (-)MPROMDB
RGD ID:6808926
Promoter ID:HG_KWN:66929
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000056768
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,579,861 - 53,581,257 (-)MPROMDB
RGD ID:6808934
Promoter ID:HG_KWN:66930
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000056779
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,581,686 - 53,582,732 (-)MPROMDB
RGD ID:6808932
Promoter ID:HG_KWN:66931
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000056778
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,586,106 - 53,587,512 (-)MPROMDB
RGD ID:6808990
Promoter ID:HG_KWN:66932
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC004DSQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,588,006 - 53,589,387 (-)MPROMDB
RGD ID:6808933
Promoter ID:HG_KWN:66933
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000056776,   OTTHUMT00000056777
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,591,386 - 53,592,567 (-)MPROMDB
RGD ID:6808929
Promoter ID:HG_KWN:66934
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000056770
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,592,716 - 53,594,007 (-)MPROMDB
RGD ID:6815685
Promoter ID:HG_MRA:17042
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:AF161390
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,605,476 - 53,605,976 (-)MPROMDB
RGD ID:6808935
Promoter ID:HG_KWN:66937
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:UC004DSN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,637,126 - 53,638,232 (-)MPROMDB
RGD ID:6808927
Promoter ID:HG_KWN:66938
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000056767
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,647,031 - 53,647,957 (-)MPROMDB
RGD ID:6808931
Promoter ID:HG_KWN:66939
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000056771
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,668,426 - 53,668,926 (-)MPROMDB
RGD ID:6808677
Promoter ID:HG_KWN:66940
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:ENST00000396323,   OTTHUMT00000056774
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,672,231 - 53,672,777 (-)MPROMDB
RGD ID:6808930
Promoter ID:HG_KWN:66941
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000056773
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,675,754 - 53,676,254 (-)MPROMDB
RGD ID:13605380
Promoter ID:EPDNEW_H28874
Type:initiation region
Name:HUWE1_1
Description:HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28875  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X53,686,719 - 53,686,779EPDNEW
RGD ID:6808936
Promoter ID:HG_KWN:66942
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:UC004DSO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X53,697,541 - 53,698,182 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_031407.7(HUWE1):c.473del (p.Pro158fs) deletion not provided [RCV000521871] ChrX:53645342 [GRCh38]
ChrX:53672294 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_031407.7(HUWE1):c.2866_2876+22dup duplication not specified [RCV000520094] ChrX:53603345..53603346 [GRCh38]
ChrX:53630306..53630307 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_031407.7(HUWE1):c.1421T>C (p.Val474Ala) single nucleotide variant not provided [RCV000523608] ChrX:53627478 [GRCh38]
ChrX:53654429 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_031407.7(HUWE1):c.12895T>C (p.Phe4299Leu) single nucleotide variant not provided [RCV000519152] ChrX:53534134 [GRCh38]
ChrX:53561095 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_031407.7(HUWE1):c.12037C>T (p.Arg4013Trp) single nucleotide variant Syndromic X-linked intellectual disability Turner type [RCV000011422]|not provided [RCV000999458] ChrX:53537656 [GRCh38]
ChrX:53564617 [GRCh37]
ChrX:Xp11.22
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_031407.7(HUWE1):c.8942G>A (p.Arg2981His) single nucleotide variant Syndromic X-linked intellectual disability Turner type [RCV000011423]|not provided [RCV000480036] ChrX:53551420 [GRCh38]
ChrX:53578381 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys) single nucleotide variant Syndromic X-linked intellectual disability Turner type [RCV000011424]|not provided [RCV000585168] ChrX:53535474 [GRCh38]
ChrX:53562435 [GRCh37]
ChrX:Xp11.22
pathogenic|likely pathogenic
NM_031407.7(HUWE1):c.4919C>G (p.Ser1640Cys) single nucleotide variant not provided [RCV000520576] ChrX:53585094 [GRCh38]
ChrX:53612054 [GRCh37]
ChrX:Xp11.22
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.23-11.22(chrX:50086006-54030240)x1 copy number loss See cases [RCV000051663] ChrX:50086006..54030240 [GRCh38]
ChrX:49850663..53957191 [GRCh37]
ChrX:49737403..54073398 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp11.22-11.21(chrX:51664377-58055036)x3 copy number gain See cases [RCV000052392] ChrX:51664377..58055036 [GRCh38]
ChrX:51407309..58081470 [GRCh37]
ChrX:51424049..58098195 [NCBI36]
ChrX:Xp11.22-11.21
pathogenic
GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2 copy number gain See cases [RCV000052393] ChrX:52363196..58455952 [GRCh38]
ChrX:52175778..58482385 [GRCh37]
ChrX:52123054..58499110 [NCBI36]
ChrX:Xp11.22-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22(chrX:53403791-54030240)x2 copy number gain See cases [RCV000052413] ChrX:53403791..54030240 [GRCh38]
ChrX:53430723..53957191 [GRCh37]
ChrX:53447448..54073398 [NCBI36]
ChrX:Xp11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22(chrX:50916108-53902080)x2 copy number gain See cases [RCV000052391] ChrX:50916108..53902080 [GRCh38]
ChrX:50659108..53928500 [GRCh37]
ChrX:50675848..53945225 [NCBI36]
ChrX:Xp11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp11.22(chrX:53374742-53543761)x3 copy number gain See cases [RCV000054186] ChrX:53374742..53543761 [GRCh38]
ChrX:53401663..53570722 [GRCh37]
ChrX:53418388..53587447 [NCBI36]
ChrX:Xp11.22
uncertain significance
GRCh38/hg38 Xp11.22(chrX:53511777-53575140)x3 copy number gain See cases [RCV000054187] ChrX:53511777..53575140 [GRCh38]
ChrX:53538743..53602100 [GRCh37]
ChrX:53555468..53618825 [NCBI36]
ChrX:Xp11.22
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_031407.7(HUWE1):c.4229C>T (p.Ala1410Val) single nucleotide variant History of neurodevelopmental disorder [RCV000716541]|Syndromic X-linked intellectual disability Turner type [RCV000660364] ChrX:53589779 [GRCh38]
ChrX:53616739 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_031407.7(HUWE1):c.12177T>C (p.Gly4059=) single nucleotide variant History of neurodevelopmental disorder [RCV000715277]|not specified [RCV000082281] ChrX:53536628 [GRCh38]
ChrX:53563589 [GRCh37]
ChrX:Xp11.22
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_031407.7(HUWE1):c.12671C>T (p.Ala4224Val) single nucleotide variant Syndromic X-linked intellectual disability Turner type [RCV001253188]|not provided [RCV000082282] ChrX:53534676 [GRCh38]
ChrX:53561637 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_031407.7(HUWE1):c.2192_2197AGGAAG[1] (p.Glu733_Glu734del) microsatellite not provided [RCV000082283] ChrX:53614592..53614597 [GRCh38]
ChrX:53641553..53641558 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_031407.7(HUWE1):c.12573C>G (p.Pro4191=) single nucleotide variant History of neurodevelopmental disorder [RCV000718326]|not provided [RCV000117243] ChrX:53535460 [GRCh38]
ChrX:53562421 [GRCh37]
ChrX:Xp11.22
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_031407.7(HUWE1):c.1470A>G (p.Glu490=) single nucleotide variant not provided [RCV000916457]|not specified [RCV000117244] ChrX:53627429 [GRCh38]
ChrX:53654380 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_031407.7(HUWE1):c.4503C>T (p.Pro1501=) single nucleotide variant History of neurodevelopmental disorder [RCV000721026]|not provided [RCV000117245]|not specified [RCV001172461] ChrX:53588493 [GRCh38]
ChrX:53615453 [GRCh37]
ChrX:Xp11.22
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_031407.7(HUWE1):c.8694G>A (p.Ala2898=) single nucleotide variant History of neurodevelopmental disorder [RCV000715948]|not provided [RCV000958319]|not specified [RCV000117246] ChrX:53552694 [GRCh38]
ChrX:53579655 [GRCh37]
ChrX:Xp11.22
benign
NM_031407.7(HUWE1):c.10101G>A (p.Arg3367=) single nucleotide variant History of neurodevelopmental disorder [RCV000717691]|not provided [RCV000953115]|not specified [RCV000117247] ChrX:53548208 [GRCh38]
ChrX:53575169 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_031407.7(HUWE1):c.10551G>T (p.Leu3517=) single nucleotide variant History of neurodevelopmental disorder [RCV000718786]|not provided [RCV000961816]|not specified [RCV000117248] ChrX:53547758 [GRCh38]
ChrX:53574719 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_031407.7(HUWE1):c.12275C>A (p.Thr4092Asn) single nucleotide variant not provided [RCV000117249] ChrX:53536530 [GRCh38]
ChrX:53563491 [GRCh37]
ChrX:Xp11.22
uncertain significance
NM_031407.7(HUWE1):c.12903= (p.Thr4301=) single nucleotide variant History of neurodevelopmental disorder [RCV000716591]|not provided [RCV000897989]|not specified [RCV000117250] ChrX:53534126 [GRCh38]
ChrX:53561087 [GRCh37]
ChrX:Xp11.22
benign|likely benign
NM_031407.7(HUWE1):c.1448A>G (p.Asn483