OTUD6B (OTU deubiquitinase 6B) - Rat Genome Database

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Gene: OTUD6B (OTU deubiquitinase 6B) Homo sapiens
Analyze
Symbol: OTUD6B
Name: OTU deubiquitinase 6B
RGD ID: 1602119
HGNC Page HGNC
Description: Exhibits thiol-dependent ubiquitin-specific protease activity. Involved in several processes, including proteasome assembly; protein deubiquitination; and regulation of translation. Colocalizes with eukaryotic translation initiation factor 4F complex.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: CGI-77; deubiquitinase OTUD6B; DUBA-5; DUBA5; IDDFSDA; OTU domain containing 6B; OTU domain-containing protein 6B
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 Ensembl891,070,196 - 91,087,095 (+)EnsemblGRCh38hg38GRCh38
GRCh38891,070,305 - 91,087,095 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37892,082,572 - 92,099,321 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36892,151,600 - 92,168,499 (+)NCBINCBI36hg18NCBI36
Celera888,277,450 - 88,294,349 (+)NCBI
Cytogenetic Map8q21.3NCBI
HuRef887,293,694 - 87,310,590 (+)NCBIHuRef
CHM1_1892,123,085 - 92,139,970 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Absent speech  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Aplasia/Hypoplasia of the external ear  (IAGP)
Arachnodactyly  (IAGP)
Ataxia  (IAGP)
Atrial septal defect  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Brachycephaly  (IAGP)
Broad thumb  (IAGP)
Cerebral cortical atrophy  (IAGP)
Cerebral palsy  (IAGP)
Chronic constipation  (IAGP)
Cryptorchidism  (IAGP)
Decreased body weight  (IAGP)
Delayed gross motor development  (IAGP)
Delayed speech and language development  (IAGP)
Down-sloping shoulders  (IAGP)
Downslanted palpebral fissures  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Flat occiput  (IAGP)
Flexion contracture  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
High palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hyperextensibility of the finger joints  (IAGP)
Hypertonia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Inability to walk  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, severe  (IAGP)
Intrauterine growth retardation  (IAGP)
Limb joint contracture  (IAGP)
Long eyelashes  (IAGP)
Long face  (IAGP)
Long palpebral fissure  (IAGP)
Long philtrum  (IAGP)
Low-set ears  (IAGP)
Macrotia  (IAGP)
Microcephaly  (IAGP)
Overlapping toe  (IAGP)
Prominent nasal bridge  (IAGP)
Protruding ear  (IAGP)
Retrognathia  (IAGP)
Sacral dimple  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Spastic tetraplegia  (IAGP)
Talipes equinovarus  (IAGP)
Tapered finger  (IAGP)
Thin upper lip vermilion  (IAGP)
Toe syndactyly  (IAGP)
Ventricular septal defect  (IAGP)
Ventriculomegaly  (IAGP)
Wide nasal bridge  (IAGP)
Wide nose  (IAGP)
References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10810093   PMID:12477932   PMID:15489334   PMID:16344560   PMID:19322201   PMID:19615732   PMID:20804422   PMID:21267069   PMID:21873635   PMID:22863883   PMID:22939629   PMID:22944692  
PMID:26186194   PMID:26344197   PMID:26496610   PMID:27864334   PMID:28343629   PMID:28514442   PMID:28515276   PMID:29576527   PMID:30021884   PMID:31156645   PMID:32129710   PMID:32323143  
PMID:33001583  


Genomics

Comparative Map Data
OTUD6B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl891,070,196 - 91,087,095 (+)EnsemblGRCh38hg38GRCh38
GRCh38891,070,305 - 91,087,095 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37892,082,572 - 92,099,321 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36892,151,600 - 92,168,499 (+)NCBINCBI36hg18NCBI36
Celera888,277,450 - 88,294,349 (+)NCBI
Cytogenetic Map8q21.3NCBI
HuRef887,293,694 - 87,310,590 (+)NCBIHuRef
CHM1_1892,123,085 - 92,139,970 (+)NCBICHM1_1
Otud6b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39414,809,505 - 14,826,552 (-)NCBIGRCm39mm39
GRCm39 Ensembl414,809,498 - 14,826,587 (-)Ensembl
GRCm38414,809,505 - 14,826,413 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl414,809,498 - 14,826,587 (-)EnsemblGRCm38mm10GRCm38
MGSCv37414,736,652 - 14,753,734 (-)NCBIGRCm37mm9NCBIm37
MGSCv36414,736,652 - 14,753,531 (-)NCBImm8
Celera414,601,182 - 14,626,052 (-)NCBICelera
Cytogenetic Map4A1NCBI
Otud6b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2528,181,992 - 28,214,486 (-)NCBI
Rnor_6.0 Ensembl528,333,019 - 28,349,927 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0528,333,019 - 28,350,093 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0533,017,035 - 33,034,265 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4529,268,066 - 29,283,381 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1529,230,845 - 29,283,260 (-)NCBI
Celera527,450,913 - 27,466,028 (-)NCBICelera
Cytogenetic Map5q13NCBI
Otud6b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554177,844,292 - 7,858,658 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554177,844,311 - 7,859,032 (+)NCBIChiLan1.0ChiLan1.0
OTUD6B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1889,685,766 - 89,702,661 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl889,685,766 - 89,702,659 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0887,733,597 - 87,750,481 (+)NCBIMhudiblu_PPA_v0panPan3
OTUD6B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12936,466,596 - 36,485,509 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2936,433,450 - 36,483,222 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2936,618,817 - 36,638,435 (+)NCBI
ROS_Cfam_1.02936,667,557 - 36,687,411 (+)NCBI
UMICH_Zoey_3.12936,687,777 - 36,707,389 (+)NCBI
UNSW_CanFamBas_1.02936,669,466 - 36,689,095 (+)NCBI
UU_Cfam_GSD_1.02937,108,146 - 37,127,799 (+)NCBI
Otud6b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530343,087,401 - 43,104,325 (-)NCBI
SpeTri2.0NW_0049365444,688,332 - 4,705,304 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OTUD6B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl445,741,928 - 45,793,290 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1445,776,776 - 45,793,270 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2449,397,943 - 49,414,516 (-)NCBISscrofa10.2Sscrofa10.2susScr3
OTUD6B
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1886,140,202 - 86,156,906 (+)NCBI
ChlSab1.1 Ensembl886,140,327 - 86,154,676 (+)Ensembl
Otud6b
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624744875,658 - 901,540 (-)NCBI

Position Markers
RH93935  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,081,839 - 92,082,024UniSTSGRCh37
Build 36892,151,015 - 92,151,200RGDNCBI36
Celera888,276,865 - 88,277,050RGD
Cytogenetic Map8q21.3UniSTS
HuRef887,293,109 - 87,293,294UniSTS
GeneMap99-GB4 RH Map8427.09UniSTS
D8S1360E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,081,982 - 92,082,229UniSTSGRCh37
Build 36892,151,158 - 92,151,405RGDNCBI36
Celera888,277,008 - 88,277,255RGD
Cytogenetic Map8q21.3UniSTS
HuRef887,293,252 - 87,293,499UniSTS
SHGC-35860  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,099,158 - 92,099,266UniSTSGRCh37
Build 36892,168,334 - 92,168,442RGDNCBI36
Celera888,294,184 - 88,294,292RGD
Cytogenetic Map8q21.3UniSTS
HuRef887,310,425 - 87,310,533UniSTS
GeneMap99-GB4 RH Map8426.99UniSTS
Whitehead-RH Map8535.8UniSTS
NCBI RH Map8899.7UniSTS
GeneMap99-G3 RH Map83528.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2004
Count of miRNA genes:652
Interacting mature miRNAs:758
Transcripts:ENST00000285420, ENST00000404789, ENST00000522894, ENST00000524027
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 506 573 516 74 764 72 1815 270 1163 115 743 794 19 349 1161 4 1
Low 1933 2216 1210 550 992 393 2541 1920 2571 302 717 819 156 1 855 1627 2 1
Below cutoff 202 195 7 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000285420   ⟹   ENSP00000285420
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl891,070,196 - 91,087,095 (+)Ensembl
RefSeq Acc Id: ENST00000404789   ⟹   ENSP00000384190
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl891,070,344 - 91,087,093 (+)Ensembl
RefSeq Acc Id: ENST00000522894   ⟹   ENSP00000428528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl891,070,325 - 91,085,417 (+)Ensembl
RefSeq Acc Id: ENST00000524027
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl891,070,362 - 91,079,207 (+)Ensembl
RefSeq Acc Id: ENST00000615618   ⟹   ENSP00000481196
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl891,070,196 - 91,087,091 (+)Ensembl
RefSeq Acc Id: ENST00000617869   ⟹   ENSP00000483706
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl891,070,196 - 91,087,091 (+)Ensembl
RefSeq Acc Id: NM_001286745   ⟹   NP_001273674
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38891,070,344 - 91,087,093 (+)NCBI
HuRef887,293,694 - 87,310,590 (+)NCBI
CHM1_1892,123,085 - 92,139,970 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016023   ⟹   NP_057107
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38891,070,344 - 91,087,093 (+)NCBI
GRCh37892,082,424 - 92,099,323 (+)NCBI
Build 36892,151,600 - 92,168,499 (+)NCBI Archive
Celera888,277,450 - 88,294,349 (+)RGD
HuRef887,293,694 - 87,310,590 (+)RGD
CHM1_1892,123,085 - 92,139,970 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517129   ⟹   XP_011515431
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38891,070,305 - 91,087,095 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_057107   ⟸   NM_016023
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: NP_001273674   ⟸   NM_001286745
- Peptide Label: isoform 2
- UniProtKB: Q8N6M0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515431   ⟸   XM_011517129
- Peptide Label: isoform X1
- UniProtKB: Q8N6M0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000285420   ⟸   ENST00000285420
RefSeq Acc Id: ENSP00000384190   ⟸   ENST00000404789
RefSeq Acc Id: ENSP00000428528   ⟸   ENST00000522894
RefSeq Acc Id: ENSP00000481196   ⟸   ENST00000615618
RefSeq Acc Id: ENSP00000483706   ⟸   ENST00000617869
Protein Domains
OTU

Promoters
RGD ID:7213741
Promoter ID:EPDNEW_H12616
Type:initiation region
Name:OTUD6B_1
Description:OTU domain containing 6B
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
GRCh38891,070,344 - 91,070,404EPDNEW
RGD ID:6807128
Promoter ID:HG_KWN:61679
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_016023,   UC003YET.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36892,150,401 - 92,151,777 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-22.1(chr8:85835757-93610142)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053676]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053676]|See cases [RCV000053676] Chr8:85835757..93610142 [GRCh38]
Chr8:86847986..94622370 [GRCh37]
Chr8:86917086..94691546 [NCBI36]
Chr8:8q21.2-22.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1 copy number loss See cases [RCV000054261] Chr8:77765431..91839285 [GRCh38]
Chr8:78677666..92851513 [GRCh37]
Chr8:78840221..92920689 [NCBI36]
Chr8:8q21.13-21.3
pathogenic
GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1 copy number loss See cases [RCV000054262] Chr8:78672463..95366868 [GRCh38]
Chr8:79584698..96379096 [GRCh37]
Chr8:79747253..96448272 [NCBI36]
Chr8:8q21.13-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:90940996-94538343)x1 copy number loss See cases [RCV000054263] Chr8:90940996..94538343 [GRCh38]
Chr8:91953224..95550571 [GRCh37]
Chr8:92022400..95619747 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
NM_016023.5(OTUD6B):c.557A>G (p.Tyr186Cys) single nucleotide variant Epilepsy [RCV000490986]|Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies [RCV000487494] Chr8:91078597 [GRCh38]
Chr8:92090825 [GRCh37]
Chr8:8q21.3
pathogenic|likely pathogenic
NM_016023.5(OTUD6B):c.343C>T (p.Arg115Ter) single nucleotide variant Epilepsy [RCV000491014]|Inborn genetic diseases [RCV001266980]|Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies [RCV000487564]|not provided [RCV000578662] Chr8:91078383 [GRCh38]
Chr8:92090611 [GRCh37]
Chr8:8q21.3
pathogenic
NM_016023.5(OTUD6B):c.379_383del (p.Leu127fs) deletion Epilepsy [RCV000491466]|Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies [RCV000487729]|not provided [RCV000656282] Chr8:91078416..91078420 [GRCh38]
Chr8:92090644..92090648 [GRCh37]
Chr8:8q21.3
pathogenic
NM_016023.5(OTUD6B):c.83-2A>G single nucleotide variant Epilepsy [RCV000491932]|Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies [RCV000488135] Chr8:91071136 [GRCh38]
Chr8:92083364 [GRCh37]
Chr8:8q21.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q21.3(chr8:90543310-91144982)x1 copy number loss See cases [RCV000143683] Chr8:90543310..91144982 [GRCh38]
Chr8:91555538..92157210 [GRCh37]
Chr8:91624714..92226386 [NCBI36]
Chr8:8q21.3
likely benign|uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
NM_016023.5(OTUD6B):c.686T>C (p.Leu229Pro) single nucleotide variant Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies [RCV000677720] Chr8:91080726 [GRCh38]
Chr8:92092954 [GRCh37]
Chr8:8q21.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3(chr8:91080027-92129950)x3 copy number gain See cases [RCV000510205] Chr8:91080027..92129950 [GRCh37]
Chr8:8q21.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
NM_016023.5(OTUD6B):c.797+1G>A single nucleotide variant not provided [RCV000579017] Chr8:91084115 [GRCh38]
Chr8:92096343 [GRCh37]
Chr8:8q21.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q21.3-22.1(chr8:91914994-93365750)x1 copy number loss not provided [RCV000683011] Chr8:91914994..93365750 [GRCh37]
Chr8:8q21.3-22.1
uncertain significance
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_016023.5(OTUD6B):c.315G>T (p.Arg105=) single nucleotide variant not provided [RCV000762530] Chr8:91073911 [GRCh38]
Chr8:92086139 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_016023.5(OTUD6B):c.389C>A (p.Ala130Asp) single nucleotide variant Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies [RCV001335783]|not provided [RCV000883270]|not specified [RCV001193305] Chr8:91078429 [GRCh38]
Chr8:92090657 [GRCh37]
Chr8:8q21.3
likely benign|uncertain significance
NM_016023.5(OTUD6B):c.658G>A (p.Val220Ile) single nucleotide variant not provided [RCV000879625] Chr8:91080698 [GRCh38]
Chr8:92092926 [GRCh37]
Chr8:8q21.3
likely benign
NM_016023.5(OTUD6B):c.372T>C (p.Ile124=) single nucleotide variant not provided [RCV000924540] Chr8:91078412 [GRCh38]
Chr8:92090640 [GRCh37]
Chr8:8q21.3
likely benign
NM_016023.5(OTUD6B):c.-39A>G single nucleotide variant Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies [RCV001335784]|not provided [RCV000883269]|not specified [RCV001193306] Chr8:91070346 [GRCh38]
Chr8:92082574 [GRCh37]
Chr8:8q21.3
likely benign|uncertain significance
NM_016023.5(OTUD6B):c.513T>C (p.Asp171=) single nucleotide variant not provided [RCV000937086] Chr8:91078553 [GRCh38]
Chr8:92090781 [GRCh37]
Chr8:8q21.3
likely benign
NM_016023.5(OTUD6B):c.628+8A>C single nucleotide variant not provided [RCV000940486] Chr8:91078676 [GRCh38]
Chr8:92090904 [GRCh37]
Chr8:8q21.3
likely benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_016023.5(OTUD6B):c.189_190del (p.His63fs) deletion not provided [RCV001242816] Chr8:91071243..91071244 [GRCh38]
Chr8:92083471..92083472 [GRCh37]
Chr8:8q21.3
pathogenic
NM_016023.5(OTUD6B):c.693A>G (p.Leu231=) single nucleotide variant not provided [RCV000933726] Chr8:91084010 [GRCh38]
Chr8:92096238 [GRCh37]
Chr8:8q21.3
likely benign
NC_000008.10:g.92082538A>G single nucleotide variant not provided [RCV001203557] Chr8:91070310 [GRCh38]
Chr8:92082538 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_016023.5(OTUD6B):c.377A>C (p.Asn126Thr) single nucleotide variant not provided [RCV001203558] Chr8:91078417 [GRCh38]
Chr8:92090645 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_016023.5(OTUD6B):c.-15G>A single nucleotide variant Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies [RCV001335785] Chr8:91070370 [GRCh38]
Chr8:92082598 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_016023.5(OTUD6B):c.172G>T (p.Glu58Ter) single nucleotide variant Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies [RCV001330699] Chr8:91071227 [GRCh38]
Chr8:92083455 [GRCh37]
Chr8:8q21.3
pathogenic
NM_016023.5(OTUD6B):c.631G>T (p.Glu211Ter) single nucleotide variant Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies [RCV001330700] Chr8:91080671 [GRCh38]
Chr8:92092899 [GRCh37]
Chr8:8q21.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24281 AgrOrtholog
COSMIC OTUD6B COSMIC
Ensembl Genes ENSG00000155100 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000285420 UniProtKB/TrEMBL
  ENSP00000384190 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428528 UniProtKB/TrEMBL
  ENSP00000481196 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000483706 UniProtKB/TrEMBL
Ensembl Transcript ENST00000285420 UniProtKB/TrEMBL
  ENST00000404789 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000522894 UniProtKB/TrEMBL
  ENST00000615618 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000617869 UniProtKB/TrEMBL
GTEx ENSG00000155100 GTEx
HGNC ID HGNC:24281 ENTREZGENE
Human Proteome Map OTUD6B Human Proteome Map
InterPro OTU_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Papain-like_cys_pep_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51633 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 51633 ENTREZGENE
OMIM 612021 OMIM
  617452 OMIM
Pfam OTU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA142671219 PharmGKB
PROSITE OTU UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54001 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X0W9_HUMAN UniProtKB/TrEMBL
  A0A0C4DH76_HUMAN UniProtKB/TrEMBL
  OTU6B_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K6I1 UniProtKB/Swiss-Prot
  B4DEY0 UniProtKB/Swiss-Prot
  Q9NTA4 UniProtKB/Swiss-Prot
  Q9Y387 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-08-06 OTUD6B  OTU deubiquitinase 6B  OTUD6B  OTU domain containing 6B  Symbol and/or name change 5135510 APPROVED