UBE2A (ubiquitin conjugating enzyme E2 A) - Rat Genome Database

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Gene: UBE2A (ubiquitin conjugating enzyme E2 A) Homo sapiens
Analyze
Symbol: UBE2A
Name: ubiquitin conjugating enzyme E2 A
RGD ID: 1346006
HGNC Page HGNC
Description: Exhibits ubiquitin conjugating enzyme activity and ubiquitin protein ligase binding activity. Involved in several processes, including DNA repair; protein ubiquitination; and response to UV. Localizes to HULC complex. Implicated in syndromic X-linked intellectual disability Nascimento type.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: E2 ubiquitin-conjugating enzyme A; HHR6A; HR6A; MRXS30; MRXSN; RAD6 homolog A; RAD6A; UBC2; ubiquitin carrier protein A; ubiquitin conjugating enzyme E2A; ubiquitin-conjugating enzyme E2 A; ubiquitin-conjugating enzyme E2A; ubiquitin-conjugating enzyme E2A (RAD6 homolog); ubiquitin-protein ligase A
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 EnsemblX119,574,536 - 119,591,083 (+)EnsemblGRCh38hg38GRCh38
GRCh38X119,574,563 - 119,584,423 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X118,708,526 - 118,718,386 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X118,592,527 - 118,602,409 (+)NCBINCBI36hg18NCBI36
Build 34X118,496,179 - 118,500,259NCBI
CeleraX119,163,202 - 119,173,086 (+)NCBI
Cytogenetic MapXq24NCBI
HuRefX108,201,952 - 108,211,764 (+)NCBIHuRef
CHM1_1X118,619,716 - 118,629,680 (+)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
Abnormal hair whorl  (IAGP)
Abnormal vena cava morphology  (IAGP)
Aggressive behavior  (IAGP)
Almond-shaped palpebral fissure  (IAGP)
Bilateral talipes equinovarus  (IAGP)
Broad face  (IAGP)
Broad hallux  (IAGP)
Broad neck  (IAGP)
Chronic constipation  (IAGP)
Clubbing of toes  (IAGP)
Cryptorchidism  (IAGP)
Deep philtrum  (IAGP)
Deeply set eye  (IAGP)
Delayed gross motor development  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental cataract  (IAGP)
Double outlet right ventricle  (IAGP)
Downturned corners of mouth  (IAGP)
Dry skin  (IAGP)
Echolalia  (IAGP)
Generalized hirsutism  (IAGP)
Hearing impairment  (IAGP)
High forehead  (IAGP)
Hirsutism  (IAGP)
Hypertelorism  (IAGP)
Hypointensity of cerebral white matter on MRI  (IAGP)
Hypoplasia of the pons  (IAGP)
Hypospadias  (IAGP)
Increased body weight  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, severe  (IAGP)
Low hanging columella  (IAGP)
Low posterior hairline  (IAGP)
Lower extremity joint dislocation  (IAGP)
Lumbar hypertrichosis  (IAGP)
Macrocephaly  (IAGP)
Macrotia  (IAGP)
Malar flattening  (IAGP)
Micropenis  (IAGP)
Midface retrusion  (IAGP)
Mitral stenosis  (IAGP)
Nail dysplasia  (IAGP)
Nail dystrophy  (IAGP)
Neonatal hyperbilirubinemia  (IAGP)
Neutropenia  (IAGP)
Obsessive-compulsive behavior  (IAGP)
Oligohydramnios  (IAGP)
Overlapping toe  (IAGP)
Patchy hypo- and hyperpigmentation  (IAGP)
Patent ductus arteriosus  (IAGP)
Patent foramen ovale  (IAGP)
Peripheral pulmonary artery stenosis  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Poor speech  (IAGP)
Preauricular pit  (IAGP)
Prominent supraorbital ridges  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Recurrent cutaneous abscess formation  (IAGP)
Recurrent ear infections  (IAGP)
Recurrent respiratory infections  (IAGP)
Regional abnormality of skin  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Short foot  (IAGP)
Short neck  (IAGP)
Spotty hypopigmentation  (IAGP)
Strabismus  (IAGP)
Synophrys  (IAGP)
Tetralogy of Fallot  (IAGP)
Thin vermilion border  (IAGP)
Underdeveloped nasal alae  (IAGP)
Upslanted palpebral fissure  (IAGP)
Ventricular septal defect  (IAGP)
Vesicoureteral reflux  (IAGP)
Wide intermamillary distance  (IAGP)
Wide mouth  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:1559696   PMID:1717990   PMID:7821789   PMID:8125298   PMID:10884424   PMID:10908344   PMID:11714696   PMID:11885984   PMID:11929833   PMID:11953320   PMID:12477932   PMID:12525704  
PMID:12640129   PMID:12776193   PMID:15359278   PMID:15489334   PMID:15509568   PMID:16344560   PMID:16909393   PMID:17108083   PMID:17597759   PMID:18926833   PMID:19410543   PMID:19549727  
PMID:20061386   PMID:20412111   PMID:20967207   PMID:21108393   PMID:21329877   PMID:21443952   PMID:21816346   PMID:21858012   PMID:21873635   PMID:21884979   PMID:21900206   PMID:21967848  
PMID:22083959   PMID:22427669   PMID:22456510   PMID:22592529   PMID:22810586   PMID:22898364   PMID:22904075   PMID:22939629   PMID:23471985   PMID:23525009   PMID:23685073   PMID:24036990  
PMID:24053514   PMID:24506068   PMID:24647965   PMID:24672041   PMID:24837678   PMID:24981860   PMID:25023518   PMID:25287747   PMID:25384975   PMID:25416956   PMID:25527291   PMID:25582440  
PMID:26170230   PMID:26336826   PMID:26344197   PMID:26489670   PMID:26496610   PMID:27182664   PMID:27377895   PMID:27425610   PMID:27678051   PMID:28031328   PMID:28225217   PMID:28514442  
PMID:28786561   PMID:28806395   PMID:28846114   PMID:29283210   PMID:30531907   PMID:30649429   PMID:30700555   PMID:30819912   PMID:31683936   PMID:31887036   PMID:32296183   PMID:32416067  
PMID:32485717   PMID:32814053  


Genomics

Comparative Map Data
UBE2A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX119,574,536 - 119,591,083 (+)EnsemblGRCh38hg38GRCh38
GRCh38X119,574,563 - 119,584,423 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X118,708,526 - 118,718,386 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X118,592,527 - 118,602,409 (+)NCBINCBI36hg18NCBI36
Build 34X118,496,179 - 118,500,259NCBI
CeleraX119,163,202 - 119,173,086 (+)NCBI
Cytogenetic MapXq24NCBI
HuRefX108,201,952 - 108,211,764 (+)NCBIHuRef
CHM1_1X118,619,716 - 118,629,680 (+)NCBICHM1_1
Ube2a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X36,137,948 - 36,147,875 (+)NCBIGRCm39mm39
GRCm39 EnsemblX36,137,553 - 36,147,875 (+)Ensembl
GRCm38X36,874,295 - 36,884,222 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX36,873,900 - 36,884,222 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X34,414,361 - 34,424,217 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X33,305,811 - 33,315,667 (+)NCBImm8
CeleraX23,598,009 - 23,607,867 (+)NCBICelera
Cytogenetic MapXA3.3NCBI
Ube2a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X116,114,339 - 116,125,076 (+)NCBI
Rnor_6.0 EnsemblX123,486,989 - 123,497,726 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X123,486,988 - 123,497,726 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X123,631,932 - 123,642,667 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X7,981,683 - 7,992,372 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X7,987,239 - 7,997,928 (-)NCBI
CeleraX115,344,617 - 115,355,306 (+)NCBICelera
Cytogenetic MapXq35NCBI
Ube2a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955534409,947 - 421,888 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955534411,602 - 485,964 (-)NCBIChiLan1.0ChiLan1.0
UBE2A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X119,034,235 - 119,044,162 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX119,034,235 - 119,049,655 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X108,606,271 - 108,617,000 (+)NCBIMhudiblu_PPA_v0panPan3
UBE2A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X91,608,936 - 91,617,993 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX91,529,855 - 91,617,086 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX77,683,723 - 77,693,214 (+)NCBI
ROS_Cfam_1.0X93,348,047 - 93,357,539 (+)NCBI
UMICH_Zoey_3.1X90,800,735 - 90,810,228 (+)NCBI
UNSW_CanFamBas_1.0X92,559,455 - 92,567,715 (+)NCBI
UU_Cfam_GSD_1.0X92,288,649 - 92,298,142 (+)NCBI
Ube2a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X90,647,228 - 90,656,829 (+)NCBI
SpeTri2.0NW_00493647910,330,666 - 10,340,268 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UBE2A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX97,925,131 - 98,013,194 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X97,925,136 - 98,007,551 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X113,657,314 - 113,666,926 (-)NCBISscrofa10.2Sscrofa10.2susScr3
UBE2A
(Chlorocebus sabaeus - African green monkey)
No map positions available.
Ube2a
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248953,544,410 - 3,553,981 (+)NCBI

Position Markers
G44726  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X118,717,161 - 118,717,283UniSTSGRCh37
Build 36X118,601,189 - 118,601,311RGDNCBI36
CeleraX119,171,866 - 119,171,988RGD
Cytogenetic MapXq24UniSTS
UBE2A_72  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X118,717,704 - 118,718,456UniSTSGRCh37
Build 36X118,601,732 - 118,602,484RGDNCBI36
CeleraX119,172,409 - 119,173,163RGD
HuRefX108,211,087 - 108,211,840UniSTS
STS-M74524  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X118,718,005 - 118,718,248UniSTSGRCh37
Build 36X118,602,033 - 118,602,276RGDNCBI36
CeleraX119,172,710 - 119,172,953RGD
Cytogenetic MapXq24UniSTS
HuRefX108,211,388 - 108,211,631UniSTS
GeneMap99-GB4 RH MapX298.29UniSTS
NCBI RH MapX608.9UniSTS
A009F17  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X118,718,129 - 118,718,265UniSTSGRCh37
Build 36X118,602,157 - 118,602,293RGDNCBI36
CeleraX119,172,834 - 119,172,970RGD
Cytogenetic MapXq24UniSTS
HuRefX108,211,512 - 108,211,648UniSTS
GeneMap99-GB4 RH MapX298.19UniSTS
NCBI RH MapX608.9UniSTS
G32504  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X118,718,129 - 118,718,265UniSTSGRCh37
CeleraX119,172,834 - 119,172,970UniSTS
Cytogenetic MapXq24UniSTS
HuRefX108,211,512 - 108,211,648UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1792
Count of miRNA genes:771
Interacting mature miRNAs:893
Transcripts:ENST00000346330, ENST00000371558, ENST00000371569, ENST00000469205
Prediction methods:Microtar, Miranda, Pita, Pita,Targetscan, 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 2438 2871 1655 556 1903 397 4355 2126 3663 413 1460 1611 175 1 1204 2787 6 2
Low 1 120 71 68 48 68 2 71 71 6 2 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_181762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF455746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI784380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL701289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI093289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D28459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA068506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA599154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ068065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI179118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI179120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI179122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M74524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000346330   ⟹   ENSP00000335027
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX119,574,536 - 119,583,347 (+)Ensembl
RefSeq Acc Id: ENST00000371558   ⟹   ENSP00000360613
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX119,574,563 - 119,584,423 (+)Ensembl
RefSeq Acc Id: ENST00000371569
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX119,580,335 - 119,584,418 (+)Ensembl
RefSeq Acc Id: ENST00000469205
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX119,574,571 - 119,575,794 (+)Ensembl
RefSeq Acc Id: ENST00000625379
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX119,574,549 - 119,575,397 (+)Ensembl
RefSeq Acc Id: ENST00000625938   ⟹   ENSP00000486599
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX119,574,546 - 119,584,101 (+)Ensembl
RefSeq Acc Id: ENST00000628549   ⟹   ENSP00000487203
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX119,574,748 - 119,583,621 (+)Ensembl
RefSeq Acc Id: ENST00000628734
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX119,582,368 - 119,583,417 (+)Ensembl
RefSeq Acc Id: ENST00000629303   ⟹   ENSP00000486347
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX119,574,578 - 119,582,647 (+)Ensembl
RefSeq Acc Id: ENST00000630695   ⟹   ENSP00000486550
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX119,574,563 - 119,584,425 (+)Ensembl
RefSeq Acc Id: ENST00000631185   ⟹   ENSP00000486153
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX119,574,563 - 119,591,083 (+)Ensembl
RefSeq Acc Id: NM_001282161   ⟹   NP_001269090
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,574,563 - 119,584,423 (+)NCBI
HuRefX108,201,883 - 108,211,775 (+)NCBI
CHM1_1X118,619,716 - 118,629,680 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003336   ⟹   NP_003327
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,574,563 - 119,584,423 (+)NCBI
GRCh37X118,708,499 - 118,718,381 (+)ENTREZGENE
Build 36X118,592,527 - 118,602,409 (+)NCBI Archive
HuRefX108,201,883 - 108,211,775 (+)NCBI
CHM1_1X118,619,716 - 118,629,680 (+)NCBI
Sequence:
RefSeq Acc Id: NM_181762   ⟹   NP_861427
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X119,574,563 - 119,584,423 (+)NCBI
GRCh37X118,708,499 - 118,718,381 (+)ENTREZGENE
Build 36X118,592,527 - 118,602,409 (+)NCBI Archive
HuRefX108,201,883 - 108,211,775 (+)NCBI
CHM1_1X118,619,716 - 118,629,680 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003327   ⟸   NM_003336
- Peptide Label: isoform 1
- UniProtKB: P49459 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_861427   ⟸   NM_181762
- Peptide Label: isoform 2
- UniProtKB: P49459 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269090   ⟸   NM_001282161
- Peptide Label: isoform 4
- UniProtKB: P49459 (UniProtKB/Swiss-Prot),   A0A0D9SG71 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000360613   ⟸   ENST00000371558
RefSeq Acc Id: ENSP00000335027   ⟸   ENST00000346330
RefSeq Acc Id: ENSP00000486599   ⟸   ENST00000625938
RefSeq Acc Id: ENSP00000487203   ⟸   ENST00000628549
RefSeq Acc Id: ENSP00000486347   ⟸   ENST00000629303
RefSeq Acc Id: ENSP00000486550   ⟸   ENST00000630695
RefSeq Acc Id: ENSP00000486153   ⟸   ENST00000631185
Protein Domains
UBIQUITIN_CONJUGAT_2

Promoters
RGD ID:6809354
Promoter ID:HG_KWN:67885
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_181762,   OTTHUMT00000058036,   OTTHUMT00000058039,   UC004ERN.1,   UC004ERO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X118,591,801 - 118,592,657 (+)MPROMDB
RGD ID:6851676
Promoter ID:EP73640
Type:multiple initiation site
Name:HS_UBE2A
Description:Ubiquitin-conjugating enzyme E2A (RAD6 homolog).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36X118,592,556 - 118,592,616EPD
RGD ID:6809353
Promoter ID:HG_KWN:67886
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   Lymphoblastoid
Transcripts:ENST00000371569
Position:
Human AssemblyChrPosition (strand)Source
Build 36X118,597,571 - 118,599,577 (+)MPROMDB
RGD ID:13627952
Promoter ID:EPDNEW_H29251
Type:initiation region
Name:UBE2A_1
Description:ubiquitin conjugating enzyme E2 A
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
GRCh38X119,574,563 - 119,574,623EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
UBE2A, GLY23ARG single nucleotide variant Syndromic mental retardation, Nascimento type, X-linked [RCV000022885] ChrX:Xq24-q25 pathogenic
NM_003336.4(UBE2A):c.32G>A (p.Arg11Gln) single nucleotide variant Syndromic mental retardation, Nascimento type, X-linked [RCV000022886] ChrX:119574743 [GRCh38]
ChrX:118708706 [GRCh37]
ChrX:Xq24
pathogenic
NM_003336.4(UBE2A):c.382C>T (p.Gln128Ter) single nucleotide variant Syndromic mental retardation, Nascimento type, X-linked [RCV000010600] ChrX:119583178 [GRCh38]
ChrX:118717141 [GRCh37]
ChrX:Xq24
pathogenic
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:10679-156022206)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)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:10679-156013167)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 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
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 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
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 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
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-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-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-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_003336.4(UBE2A):c.321A>G (p.Thr107=) single nucleotide variant not specified [RCV000178877] ChrX:119582667 [GRCh38]
ChrX:118716630 [GRCh37]
ChrX:Xq24
benign
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
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
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003336.4(UBE2A):c.125+2T>C single nucleotide variant not provided [RCV000522360] ChrX:119574983 [GRCh38]
ChrX:118708946 [GRCh37]
ChrX:Xq24
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq24(chrX:118673728-118717682)x0 copy number loss See cases [RCV000240349] ChrX:118673728..118717682 [GRCh37]
ChrX:Xq24
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_003336.4(UBE2A):c.2T>G (p.Met1Arg) single nucleotide variant Inborn genetic diseases [RCV000622905] ChrX:119574713 [GRCh38]
ChrX:118708676 [GRCh37]
ChrX:Xq24
likely pathogenic|uncertain significance
NM_003336.4(UBE2A):c.48G>A (p.Leu16=) single nucleotide variant not provided [RCV000599158] ChrX:119574904 [GRCh38]
ChrX:118708867 [GRCh37]
ChrX:Xq24
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_003336.4(UBE2A):c.126-1G>A single nucleotide variant not provided [RCV000432035] ChrX:119575374 [GRCh38]
ChrX:118709337 [GRCh37]
ChrX:Xq24
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_003336.4(UBE2A):c.67G>A (p.Gly23Arg) single nucleotide variant Syndromic mental retardation, Nascimento type, X-linked [RCV000499961]|not provided [RCV000509156] ChrX:119574923 [GRCh38]
ChrX:118708886 [GRCh37]
ChrX:Xq24
pathogenic|not provided
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_003336.4(UBE2A):c.111C>T (p.Asn37=) single nucleotide variant not specified [RCV000506261] ChrX:119574967 [GRCh38]
ChrX:118708930 [GRCh37]
ChrX:Xq24
likely benign
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_003336.4(UBE2A):c.241G>A (p.Val81Ile) single nucleotide variant not provided [RCV000492904] ChrX:119581596 [GRCh38]
ChrX:118715559 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq24(chrX:118601218-118855714)x0 copy number loss See cases [RCV000510978] ChrX:118601218..118855714 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_003336.4(UBE2A):c.1A>G (p.Met1Val) single nucleotide variant Inborn genetic diseases [RCV000623732] ChrX:119574712 [GRCh38]
ChrX:118708675 [GRCh37]
ChrX:Xq24
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_003336.4(UBE2A):c.296C>T (p.Thr99Ile) single nucleotide variant not provided [RCV000659177] ChrX:119582642 [GRCh38]
ChrX:118716605 [GRCh37]
ChrX:Xq24
uncertain significance
NM_003336.4(UBE2A):c.373del (p.Gln125fs) deletion Syndromic mental retardation, Nascimento type, X-linked [RCV000677425] ChrX:119583168 [GRCh38]
ChrX:118717131 [GRCh37]
ChrX:Xq24
likely pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
NM_003336.4(UBE2A):c.-4C>T single nucleotide variant History of neurodevelopmental disorder [RCV000718416] ChrX:119574708 [GRCh38]
ChrX:118708671 [GRCh37]
ChrX:Xq24
uncertain significance
NM_003336.4(UBE2A):c.403C>T (p.Arg135Trp) single nucleotide variant History of neurodevelopmental disorder [RCV000719428]|Syndromic mental retardation, Nascimento type, X-linked [RCV001257328] ChrX:119583199 [GRCh38]
ChrX:118717162 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq24(chrX:118053103-119334499)x2 copy number gain not provided [RCV000753733] ChrX:118053103..119334499 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq24(chrX:118712005-118717200)x3 copy number gain not provided [RCV000753736] ChrX:118712005..118717200 [GRCh37]
ChrX:Xq24
benign
GRCh37/hg19 Xq24(chrX:118712112-118717200)x3 copy number gain not provided [RCV000753737] ChrX:118712112..118717200 [GRCh37]
ChrX:Xq24
benign
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xq24(chrX:118714474-118718137) copy number loss Syndromic mental retardation, Nascimento type, X-linked [RCV000767806] ChrX:118714474..118718137 [GRCh37]
ChrX:Xq24
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_003336.4(UBE2A):c.45-5C>T single nucleotide variant not provided [RCV000910137] ChrX:119574896 [GRCh38]
ChrX:118708859 [GRCh37]
ChrX:Xq24
benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq24-26.1(chrX:117119895-129850963)x2 copy number gain not provided [RCV001007336] ChrX:117119895..129850963 [GRCh37]
ChrX:Xq24-26.1
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
NM_003336.4(UBE2A):c.31_42del (p.Asp12_Arg15del) deletion Syndromic mental retardation, Nascimento type, X-linked [RCV000990932] ChrX:119574741..119574752 [GRCh38]
ChrX:118708704..118708715 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_003336.4(UBE2A):c.285T>C (p.Arg95=) single nucleotide variant not provided [RCV000929259] ChrX:119582631 [GRCh38]
ChrX:118716594 [GRCh37]
ChrX:Xq24
likely benign
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_003336.4(UBE2A):c.390C>T (p.Tyr130=) single nucleotide variant not provided [RCV000934243] ChrX:119583186 [GRCh38]
ChrX:118717149 [GRCh37]
ChrX:Xq24
likely benign
NM_003336.4(UBE2A):c.330+1G>A single nucleotide variant Syndromic mental retardation, Nascimento type, X-linked [RCV001254171] ChrX:119582677 [GRCh38]
ChrX:118716640 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_003336.4(UBE2A):c.283C>T (p.Arg95Cys) single nucleotide variant Syndromic mental retardation, Nascimento type, X-linked [RCV001257330] ChrX:119582629 [GRCh38]
ChrX:118716592 [GRCh37]
ChrX:Xq24
uncertain significance
NM_003336.4(UBE2A):c.242T>A (p.Val81Asp) single nucleotide variant Inborn genetic diseases [RCV001266341] ChrX:119582588 [GRCh38]
ChrX:118716551 [GRCh37]
ChrX:Xq24
uncertain significance
NM_003336.4(UBE2A):c.108G>A (p.Trp36Ter) single nucleotide variant Inborn genetic diseases [RCV001266492] ChrX:119574964 [GRCh38]
ChrX:118708927 [GRCh37]
ChrX:Xq24
pathogenic
GRCh37/hg19 Xq24-26.1(chrX:117120780-129850994)x3 copy number gain not provided [RCV001259495] ChrX:117120780..129850994 [GRCh37]
ChrX:Xq24-26.1
pathogenic
NM_003336.4(UBE2A):c.184G>A (p.Glu62Lys) single nucleotide variant Syndromic mental retardation, Nascimento type, X-linked [RCV001257329] ChrX:119581539 [GRCh38]
ChrX:118715502 [GRCh37]
ChrX:Xq24
uncertain significance
NM_003336.4(UBE2A):c.295A>G (p.Thr99Ala) single nucleotide variant Syndromic mental retardation, Nascimento type, X-linked [RCV001257325] ChrX:119582641 [GRCh38]
ChrX:118716604 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xq24(chrX:118679335-118744405)x0 copy number loss See cases [RCV001264395] ChrX:118679335..118744405 [GRCh37]
ChrX:Xq24
pathogenic
NC_000023.11:g.119582645_119582647ATG[1] microsatellite Syndromic mental retardation, Nascimento type, X-linked [RCV001257326] ChrX:119582645..119582647 [GRCh38]
ChrX:118716608..118716610 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_003336.4(UBE2A):c.242-3_244del deletion Syndromic mental retardation, Nascimento type, X-linked [RCV001257327] ChrX:119582582..119582587 [GRCh38]
ChrX:118716545..118716550 [GRCh37]
ChrX:Xq24
likely pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_003336.4(UBE2A):c.276del (p.Gln93fs) deletion not provided [RCV001344266] ChrX:119582621 [GRCh38]
ChrX:118716584 [GRCh37]
ChrX:Xq24
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12472 AgrOrtholog
COSMIC UBE2A COSMIC
Ensembl Genes ENSG00000077721 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000335027 UniProtKB/TrEMBL
  ENSP00000360613 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000486153 UniProtKB/TrEMBL
  ENSP00000486347 UniProtKB/TrEMBL
  ENSP00000486550 UniProtKB/Swiss-Prot
  ENSP00000486599 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000487203 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000346330 UniProtKB/TrEMBL
  ENST00000371558 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000625938 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000628549 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000629303 UniProtKB/TrEMBL
  ENST00000630695 UniProtKB/Swiss-Prot
  ENST00000631185 UniProtKB/TrEMBL
Gene3D-CATH 3.10.110.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000077721 GTEx
HGNC ID HGNC:12472 ENTREZGENE
Human Proteome Map UBE2A Human Proteome Map
InterPro UBQ-conjugat_E2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBQ-conjugating_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBQ-conjugating_enzyme/RWD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7319 UniProtKB/Swiss-Prot
NCBI Gene 7319 ENTREZGENE
OMIM 300860 OMIM
  312180 OMIM
Pfam UQ_con UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37122 PharmGKB
PROSITE UBIQUITIN_CONJUGAT_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBIQUITIN_CONJUGAT_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54495 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0D9SEZ6_HUMAN UniProtKB/TrEMBL
  A0A0D9SF75_HUMAN UniProtKB/TrEMBL
  A0A0D9SG71 ENTREZGENE, UniProtKB/TrEMBL
  A0A0R4J2E5_HUMAN UniProtKB/TrEMBL
  P49459 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6NFE9 UniProtKB/Swiss-Prot
  A6NGR2 UniProtKB/Swiss-Prot
  A6NMF5 UniProtKB/Swiss-Prot
  B2R7R9 UniProtKB/Swiss-Prot
  D3DWI1 UniProtKB/Swiss-Prot
  Q4TTG1 UniProtKB/Swiss-Prot
  Q96FX4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-21 UBE2A  ubiquitin conjugating enzyme E2 A    ubiquitin conjugating enzyme E2A  Symbol and/or name change 5135510 APPROVED
2015-11-24 UBE2A  ubiquitin conjugating enzyme E2A    ubiquitin-conjugating enzyme E2A  Symbol and/or name change 5135510 APPROVED
2011-08-17 UBE2A  ubiquitin-conjugating enzyme E2A  UBE2A  ubiquitin-conjugating enzyme E2A  Symbol and/or name change 5135510 APPROVED
2011-07-27 UBE2A  ubiquitin-conjugating enzyme E2A  UBE2A  ubiquitin-conjugating enzyme E2A (RAD6 homolog)  Symbol and/or name change 5135510 APPROVED