OTUD5 (OTU deubiquitinase 5) - Rat Genome Database

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Gene: OTUD5 (OTU deubiquitinase 5) Homo sapiens
Analyze
Symbol: OTUD5
Name: OTU deubiquitinase 5
RGD ID: 1604609
HGNC Page HGNC
Description: Exhibits Lys48-specific deubiquitinase activity; Lys63-specific deubiquitinase activity; and thiol-dependent ubiquitin-specific protease activity. Involved in protein K48-linked deubiquitination; protein K63-linked deubiquitination; and response to lipopolysaccharide. Predicted to localize to cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: deubiquinating enzyme A; deubiquitinating enzyme A; DKFZp761A052; DUBA; MCAND; MGC104871; OTU domain containing 5; OTU domain-containing protein 5
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 EnsemblX48,922,024 - 48,958,386 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX48,922,028 - 48,958,386 (-)EnsemblGRCh38hg38GRCh38
GRCh38X48,922,024 - 48,960,783 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X48,779,301 - 48,815,643 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,664,432 - 48,699,837 (-)NCBINCBI36hg18NCBI36
CeleraX52,847,869 - 52,884,227 (+)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,435,456 - 46,472,247 (-)NCBIHuRef
CHM1_1X48,810,457 - 48,846,938 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Ependymoma  (IAGP)
Schizophrenia  (IAGP)
References

References - curated
1. Pipeline to import KEGG annotations from KEGG into RGD
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:10664582   PMID:12477932   PMID:14702039   PMID:15146197   PMID:15302935   PMID:15489334   PMID:16169070   PMID:16341674   PMID:16344560   PMID:16368877   PMID:17991829  
PMID:19615732   PMID:21873635   PMID:22245969   PMID:22658674   PMID:22939629   PMID:23827681   PMID:24143256   PMID:24763515   PMID:25499082   PMID:26186194   PMID:26972000   PMID:27432908  
PMID:27609421   PMID:28190767   PMID:28514442   PMID:29117863   PMID:29576527   PMID:29656893   PMID:30022168   PMID:30508113   PMID:30659753   PMID:30804394   PMID:30980112   PMID:32133736  
PMID:32694731   PMID:32826889  


Genomics

Comparative Map Data
OTUD5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX48,922,024 - 48,958,386 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX48,922,028 - 48,958,386 (-)EnsemblGRCh38hg38GRCh38
GRCh38X48,922,024 - 48,960,783 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X48,779,301 - 48,815,643 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,664,432 - 48,699,837 (-)NCBINCBI36hg18NCBI36
CeleraX52,847,869 - 52,884,227 (+)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,435,456 - 46,472,247 (-)NCBIHuRef
CHM1_1X48,810,457 - 48,846,938 (-)NCBICHM1_1
Otud5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X7,705,852 - 7,742,865 (+)NCBIGRCm39mm39
GRCm39 EnsemblX7,707,603 - 7,742,865 (+)Ensembl
GRCm38X7,839,613 - 7,876,626 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX7,841,364 - 7,876,626 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X7,418,957 - 7,451,986 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X6,998,790 - 7,031,819 (+)NCBImm8
CeleraX3,595,012 - 3,628,228 (-)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX3.54NCBI
Otud5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X14,626,173 - 14,659,331 (-)NCBI
Rnor_6.0 EnsemblX15,471,211 - 15,504,165 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X15,471,212 - 15,504,372 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X16,252,447 - 16,285,771 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X26,660,722 - 26,693,208 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX14,710,922 - 14,743,382 (-)NCBICelera
Cytogenetic MapXq12NCBI
Otud5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955543452,121 - 484,560 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955543452,172 - 484,564 (-)NCBIChiLan1.0ChiLan1.0
OTUD5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X49,077,807 - 49,112,128 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0X41,219,536 - 41,256,219 (-)NCBIMhudiblu_PPA_v0panPan3
OTUD5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X42,079,396 - 42,109,129 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX42,081,561 - 42,108,612 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX16,454,836 - 16,484,611 (-)NCBI
ROS_Cfam_1.0X42,215,589 - 42,245,392 (-)NCBI
UMICH_Zoey_3.1X42,201,829 - 42,231,594 (-)NCBI
UNSW_CanFamBas_1.0X42,190,077 - 42,219,859 (-)NCBI
UU_Cfam_GSD_1.0X42,284,322 - 42,314,095 (-)NCBI
Otud5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X34,606,971 - 34,636,523 (-)NCBI
SpeTri2.0NW_004936721847,360 - 876,912 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OTUD5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX43,000,227 - 43,029,465 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X43,001,491 - 43,029,471 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X47,784,223 - 47,812,685 (+)NCBISscrofa10.2Sscrofa10.2susScr3
OTUD5
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X46,041,348 - 46,077,195 (-)NCBI
Otud5
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624893702,895 - 736,623 (-)NCBI

Position Markers
DXS1470  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,799,416 - 48,799,617UniSTSGRCh37
Build 36X48,684,360 - 48,684,561RGDNCBI36
CeleraX52,863,900 - 52,864,113RGD
Cytogenetic MapXp11.23UniSTS
HuRefX46,455,826 - 46,456,045UniSTS
SHGC-145044  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,812,546 - 48,812,818UniSTSGRCh37
Build 36X48,697,490 - 48,697,762RGDNCBI36
CeleraX52,850,699 - 52,850,971RGD
Cytogenetic MapXp11.23UniSTS
HuRefX46,469,102 - 46,469,374UniSTS
DXS9835  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,795,617 - 48,795,844UniSTSGRCh37
Build 36X48,680,561 - 48,680,788RGDNCBI36
CeleraX52,867,685 - 52,867,912RGD
HuRefX46,452,027 - 46,452,254UniSTS
DXS8208  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,778,905 - 48,779,056UniSTSGRCh37
Build 36X48,663,849 - 48,664,000RGDNCBI36
CeleraX52,884,472 - 52,884,623RGD
Cytogenetic MapXp11.23UniSTS
RH18187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,780,058 - 48,780,197UniSTSGRCh37
Build 36X48,665,002 - 48,665,141RGDNCBI36
CeleraX52,883,331 - 52,883,470RGD
Cytogenetic MapXp11.23UniSTS
HuRefX46,436,213 - 46,436,352UniSTS
GeneMap99-GB4 RH MapX144.95UniSTS
SHGC-17255  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,811,403 - 48,811,549UniSTSGRCh37
Build 36X48,696,347 - 48,696,493RGDNCBI36
CeleraX52,851,968 - 52,852,114RGD
Cytogenetic MapXp11.23UniSTS
HuRefX46,467,959 - 46,468,105UniSTS
Stanford-G3 RH MapX1975.0UniSTS
GeneMap99-G3 RH MapX1183.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4131
Count of miRNA genes:1053
Interacting mature miRNAs:1273
Transcripts:ENST00000156084, ENST00000376488, ENST00000396743, ENST00000428668, ENST00000455452, ENST00000481142, ENST00000484499
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 1
Medium 2431 2852 1716 615 1937 457 4354 2077 3653 416 1447 1608 171 1204 2787 4
Low 8 139 10 9 14 8 2 120 81 3 12 5 4 1 1 2 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001136157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001136158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001136159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005278039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005278042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC233294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC233300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF207550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM797460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BY799160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB243128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN368451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA237046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC419901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000156084   ⟹   ENSP00000156084
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,922,211 - 48,957,631 (-)Ensembl
RefSeq Acc Id: ENST00000376488   ⟹   ENSP00000365671
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,922,212 - 48,957,599 (-)Ensembl
RefSeq Acc Id: ENST00000396743   ⟹   ENSP00000379969
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,922,028 - 48,957,631 (-)Ensembl
RefSeq Acc Id: ENST00000428668   ⟹   ENSP00000401629
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,922,943 - 48,958,386 (-)Ensembl
RefSeq Acc Id: ENST00000455452   ⟹   ENSP00000390767
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,922,206 - 48,957,189 (-)Ensembl
RefSeq Acc Id: ENST00000481142
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,934,582 - 48,936,339 (-)Ensembl
RefSeq Acc Id: ENST00000484499
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,925,934 - 48,957,056 (-)Ensembl
RefSeq Acc Id: ENST00000610466   ⟹   ENSP00000481335
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,922,640 - 48,957,894 (-)Ensembl
RefSeq Acc Id: NM_001136157   ⟹   NP_001129629
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,922,024 - 48,957,607 (-)NCBI
GRCh37X48,779,301 - 48,815,880 (-)NCBI
CeleraX52,847,869 - 52,884,227 (+)RGD
HuRefX46,435,456 - 46,472,247 (-)RGD
CHM1_1X48,810,457 - 48,846,183 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001136158   ⟹   NP_001129630
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,922,024 - 48,957,607 (-)NCBI
GRCh37X48,779,301 - 48,815,880 (-)NCBI
CeleraX52,847,869 - 52,884,227 (+)RGD
HuRefX46,435,456 - 46,472,247 (-)RGD
CHM1_1X48,810,457 - 48,846,183 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001136159   ⟹   NP_001129631
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,922,024 - 48,958,381 (-)NCBI
GRCh37X48,779,301 - 48,815,880 (-)NCBI
CeleraX52,847,869 - 52,884,227 (+)RGD
HuRefX46,435,456 - 46,472,247 (-)RGD
CHM1_1X48,810,457 - 48,846,938 (-)NCBI
Sequence:
RefSeq Acc Id: NM_017602   ⟹   NP_060072
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,922,024 - 48,957,607 (-)NCBI
GRCh37X48,779,301 - 48,815,880 (-)NCBI
Build 36X48,664,432 - 48,699,837 (-)NCBI Archive
CeleraX52,847,869 - 52,884,227 (+)RGD
HuRefX46,435,456 - 46,472,247 (-)RGD
CHM1_1X48,810,457 - 48,846,183 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005272622   ⟹   XP_005272679
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,922,206 - 48,960,783 (-)NCBI
GRCh37X48,779,301 - 48,815,880 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005278039   ⟹   XP_005278096
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,922,206 - 48,960,783 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005278042   ⟹   XP_005278099
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,922,206 - 48,958,381 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724537   ⟹   XP_006724600
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,922,206 - 48,960,783 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543932   ⟹   XP_011542234
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,922,206 - 48,960,783 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543934   ⟹   XP_011542236
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,922,206 - 48,944,283 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029628   ⟹   XP_016885117
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,922,211 - 48,960,783 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029629   ⟹   XP_016885118
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,922,206 - 48,957,051 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029630   ⟹   XP_016885119
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,922,206 - 48,958,381 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452396   ⟹   XP_024308164
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,922,206 - 48,958,378 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452397   ⟹   XP_024308165
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,922,634 - 48,958,378 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001129629 (Get FASTA)   NCBI Sequence Viewer  
  NP_001129630 (Get FASTA)   NCBI Sequence Viewer  
  NP_001129631 (Get FASTA)   NCBI Sequence Viewer  
  NP_060072 (Get FASTA)   NCBI Sequence Viewer  
  XP_005272679 (Get FASTA)   NCBI Sequence Viewer  
  XP_005278096 (Get FASTA)   NCBI Sequence Viewer  
  XP_005278099 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724600 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542234 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542236 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885117 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885118 (Get FASTA)   NCBI Sequence Viewer  
  XP_016885119 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308164 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308165 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH09917 (Get FASTA)   NCBI Sequence Viewer  
  AAH28225 (Get FASTA)   NCBI Sequence Viewer  
  AAH98440 (Get FASTA)   NCBI Sequence Viewer  
  BAB14131 (Get FASTA)   NCBI Sequence Viewer  
  BAB15416 (Get FASTA)   NCBI Sequence Viewer  
  BAG57778 (Get FASTA)   NCBI Sequence Viewer  
  CAB70778 (Get FASTA)   NCBI Sequence Viewer  
  EAW50722 (Get FASTA)   NCBI Sequence Viewer  
  EAW50723 (Get FASTA)   NCBI Sequence Viewer  
  EAW50724 (Get FASTA)   NCBI Sequence Viewer  
  EAW50725 (Get FASTA)   NCBI Sequence Viewer  
  EAW50726 (Get FASTA)   NCBI Sequence Viewer  
  EAW50727 (Get FASTA)   NCBI Sequence Viewer  
  Q96G74 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001129631   ⟸   NM_001136159
- Peptide Label: isoform c
- UniProtKB: Q96G74 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001129629   ⟸   NM_001136157
- Peptide Label: isoform b
- UniProtKB: Q96G74 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001129630   ⟸   NM_001136158
- Peptide Label: isoform b
- UniProtKB: Q96G74 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_060072   ⟸   NM_017602
- Peptide Label: isoform a
- UniProtKB: Q96G74 (UniProtKB/Swiss-Prot),   A0A024QZ09 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005272679   ⟸   XM_005272622
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_005278099   ⟸   XM_005278042
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_006724600   ⟸   XM_006724537
- Peptide Label: isoform X2
- UniProtKB: Q96G74 (UniProtKB/Swiss-Prot),   A0A024QZ09 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005278096   ⟸   XM_005278039
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011542234   ⟸   XM_011543932
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011542236   ⟸   XM_011543934
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016885119   ⟸   XM_017029630
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016885118   ⟸   XM_017029629
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016885117   ⟸   XM_017029628
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024308164   ⟸   XM_024452396
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_024308165   ⟸   XM_024452397
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: ENSP00000481335   ⟸   ENST00000610466
RefSeq Acc Id: ENSP00000401629   ⟸   ENST00000428668
RefSeq Acc Id: ENSP00000365671   ⟸   ENST00000376488
RefSeq Acc Id: ENSP00000390767   ⟸   ENST00000455452
RefSeq Acc Id: ENSP00000156084   ⟸   ENST00000156084
RefSeq Acc Id: ENSP00000379969   ⟸   ENST00000396743
Protein Domains
OTU

Promoters
RGD ID:6809094
Promoter ID:HG_KWN:66718
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000060801
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,678,456 - 48,679,547 (-)MPROMDB
RGD ID:6808669
Promoter ID:HG_KWN:66720
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:ENST00000396743
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,699,261 - 48,700,657 (-)MPROMDB
RGD ID:6809095
Promoter ID:HG_KWN:66722
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_001136159
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,700,456 - 48,701,507 (-)MPROMDB
RGD ID:13605262
Promoter ID:EPDNEW_H28815
Type:initiation region
Name:OTUD5_2
Description:OTU deubiquitinase 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28816  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,957,607 - 48,957,667EPDNEW
RGD ID:13605266
Promoter ID:EPDNEW_H28816
Type:initiation region
Name:OTUD5_1
Description:OTU deubiquitinase 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28815  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,958,381 - 48,958,441EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical 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
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:10679-156013167)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 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 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
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 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: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 Xp11.23-11.22(chrX:47859417-52789530)x3 copy number gain See cases [RCV000052390] ChrX:47859417..52789530 [GRCh38]
ChrX:47835880..52818575 [GRCh37]
ChrX:47603760..52835300 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48344666-52664916)x2 copy number gain See cases [RCV000051992] ChrX:48344666..52664916 [GRCh38]
ChrX:48204101..52616581 [GRCh37]
ChrX:48089045..52710691 [NCBI36]
ChrX:Xp11.23-11.22
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-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 Xp22.33-11.21(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 Xp22.33-11.1(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 Xp22.33-11.21(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 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 Xp11.23(chrX:48612125-49292405)x2 copy number gain See cases [RCV000054185] ChrX:48612125..49292405 [GRCh38]
ChrX:48510591..49148873 [GRCh37]
ChrX:48355457..49035817 [NCBI36]
ChrX:Xp11.23
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
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_001136157.2(OTUD5):c.1195C>T (p.Arg399Trp) single nucleotide variant MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED [RCV001290735] ChrX:48925915 [GRCh38]
ChrX:48783191 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
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: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 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: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 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
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 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
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 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 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
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 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48022053-52664916)x3 copy number gain See cases [RCV000135801] ChrX:48022053..52664916 [GRCh38]
ChrX:47881447..52616581 [GRCh37]
ChrX:47766391..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
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 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 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 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp11.23-11.22(chrX:48260861-52664916)x2 copy number gain See cases [RCV000136829] ChrX:48260861..52664916 [GRCh38]
ChrX:48120296..52616581 [GRCh37]
ChrX:48005240..52710691 [NCBI36]
ChrX:Xp11.23-11.22
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 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 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp11.3-11.23(chrX:44765664-49343053)x3 copy number gain See cases [RCV000137271] ChrX:44765664..49343053 [GRCh38]
ChrX:44624910..49218180 [GRCh37]
ChrX:44509854..49105124 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x3 copy number gain See cases [RCV000138106] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52616581 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1 copy number loss See cases [RCV000138107] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52693966 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
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 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
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 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48386298-52664916)x2 copy number gain See cases [RCV000139185] ChrX:48386298..52664916 [GRCh38]
ChrX:48245740..52616581 [GRCh37]
ChrX:48130684..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
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 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
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 Xp11.23-11.22(chrX:48953927-53273903)x2 copy number gain See cases [RCV000141869] ChrX:48953927..53273903 [GRCh38]
ChrX:48811187..53303085 [GRCh37]
ChrX:48696131..53319810 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
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 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 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
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 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:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-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:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp11.23-11.22(chrX:48310313-52614698)x1 copy number loss See cases [RCV000203435] ChrX:48310313..52614698 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [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 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
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
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:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
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 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
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 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp11.23-11.22(chrX:48317353-51497588)x3 copy number gain See cases [RCV000449147] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
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 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
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 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
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:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x2 copy number gain See cases [RCV000447617] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
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 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:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-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 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
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
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
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 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001136157.2(OTUD5):c.1687C>A (p.Pro563Thr) single nucleotide variant Ependymoma [RCV000577860] ChrX:48923188 [GRCh38]
ChrX:48780465 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.3-11.23(chrX:46326268-48801984)x2 copy number gain See cases [RCV000511234] ChrX:46326268..48801984 [GRCh37]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NC_000023.10:g.(?_48755773)_(48935774_?)dup duplication SLC35A2-CDG [RCV000651315] ChrX:48755773..48935774 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3 copy number gain See cases [RCV000512224] ChrX:48224454..52813336 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4 copy number gain See cases [RCV000512561] ChrX:48290189..52154997 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1 copy number loss not provided [RCV000684331] ChrX:48156672..52672728 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
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 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
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 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
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
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
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622) copy number gain not provided [RCV000767648] ChrX:43507300..48929622 [GRCh37]
ChrX:Xp11.3-11.23
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2 copy number gain not provided [RCV000847795] ChrX:48224266..52744574 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
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 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NC_000023.11:g.48930034_48935858del deletion Neurodegeneration with brain iron accumulation 5 [RCV000785976] ChrX:48930034..48935858 [GRCh38]
ChrX:Xp11.23
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001136157.2(OTUD5):c.1203C>G (p.Ser401=) single nucleotide variant not provided [RCV000954792] ChrX:48925907 [GRCh38]
ChrX:48783183 [GRCh37]
ChrX:Xp11.23
benign
NM_001136157.2(OTUD5):c.59C>A (p.Pro20Gln) single nucleotide variant not provided [RCV001091499] ChrX:48957512 [GRCh38]
ChrX:48814774 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3 copy number gain not provided [RCV001007303] ChrX:48307437..50657313 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2 copy number gain not provided [RCV001258953] ChrX:48102202..52685635 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2 copy number gain not provided [RCV001258954] ChrX:48178413..52686510 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_001136157.2(OTUD5):c.598G>A (p.Glu200Lys) single nucleotide variant MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED [RCV001290731] ChrX:48944280 [GRCh38]
ChrX:48801541 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001136157.2(OTUD5):c.820C>T (p.Arg274Trp) single nucleotide variant MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED [RCV001290734] ChrX:48934801 [GRCh38]
ChrX:48792074 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001136157.2(OTUD5):c.1040T>C (p.Leu347Pro) single nucleotide variant MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED [RCV001290733] ChrX:48934483 [GRCh38]
ChrX:48791756 [GRCh37]
ChrX:Xp11.23
pathogenic
NC_000023.10:g.(?_48382160)_(49856876_?)dup duplication Neurodegeneration with brain iron accumulation 5 [RCV001305099]|SLC35A2-CDG [RCV001308190] ChrX:48382160..49856876 [GRCh37]
ChrX:Xp11.23-11.22
uncertain significance
NM_001136157.2(OTUD5):c.1465G>A (p.Gly489Ser) single nucleotide variant MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED [RCV001290732] ChrX:48923851 [GRCh38]
ChrX:48781128 [GRCh37]
ChrX:Xp11.23
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25402 AgrOrtholog
COSMIC OTUD5 COSMIC
Ensembl Genes ENSG00000068308 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000156084 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000365671 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000379969 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000390767 UniProtKB/TrEMBL
  ENSP00000401629 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000481335 UniProtKB/TrEMBL
Ensembl Transcript ENST00000156084 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000376488 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000396743 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000428668 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000455452 UniProtKB/TrEMBL
  ENST00000610466 UniProtKB/TrEMBL
GTEx ENSG00000068308 GTEx
HGNC ID HGNC:25402 ENTREZGENE
Human Proteome Map OTUD5 Human Proteome Map
InterPro OTU5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OTU_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Papain-like_cys_pep_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55593 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 55593 ENTREZGENE
OMIM 300713 OMIM
  301056 OMIM
PANTHER PTHR12419:SF4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam OTU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671217 PharmGKB
PROSITE OTU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54001 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024QZ09 ENTREZGENE, UniProtKB/TrEMBL
  A0A087WXV6_HUMAN UniProtKB/TrEMBL
  H7BZQ3_HUMAN UniProtKB/TrEMBL
  OTUD5_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B4DGG7 UniProtKB/Swiss-Prot
  G5E9D7 UniProtKB/Swiss-Prot
  Q4KMN9 UniProtKB/Swiss-Prot
  Q8N6T5 UniProtKB/Swiss-Prot
  Q9H650 UniProtKB/Swiss-Prot
  Q9H9U0 UniProtKB/Swiss-Prot
  Q9NT65 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2014-03-05 OTUD5  OTU deubiquitinase 5    OTU domain containing 5  Symbol and/or name change 5135510 APPROVED
2011-09-01 OTUD5  OTU domain containing 5  OTUD5  OTU domain containing 5  Symbol and/or name change 5135510 APPROVED