OTUD6B Chromosome 8
OTU deubiquitinase 6B
Upload your DNA to see your personal genotypes for variants in OTUD6B.
What This Gene Does
This gene encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Deubiquitinating enzymes are primarily involved in removing ubiquitin from proteins targeted for degradation. This protein may function as a negative regulator of the cell cycle in B cells. [provided by RefSeq, Nov 2013]
Gene Info
Gene Group
OTU domain containing
Locus Type
gene with protein product
Location
8q21.3
Ensembl
ENSG00000155100
Associated Conditions (11)
OTUD6B-related disorder
Intellectual developmental disorder with dysmorphic facies
seizures
and distal limb anomalies
Inborn genetic diseases
Intellectual disability
Ovarian serous cystadenocarcinoma
Acute myeloid leukemia
Epilepsy
Dysmorphic features
Colorectal cancer
Key Variants
RS1391158579
Conflicting classifications of pathogenicity
OTUD6B-related disorder, Intellectual developmental disorder with dysmorphic facies, seizures
Health Risk
RS143121527
Conflicting classifications of pathogenicity
Inborn genetic diseases, Intellectual developmental disorder with dysmorphic facies, seizures
Health Risk
RS143832637
Conflicting classifications of pathogenicity
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
Health Risk
RS186307892
Conflicting classifications of pathogenicity
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
Health Risk
RS199542428
Conflicting classifications of pathogenicity
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
Health Risk
RS1064797103
Likely pathogenic
Intellectual disability, Epilepsy, Dysmorphic features
Health Risk
RS1395982289
Likely pathogenic
Health Risk
RS150848976
Likely pathogenic
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
Health Risk
RS2130446714
Likely pathogenic
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
Health Risk
RS2488421311
Likely pathogenic
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
Health Risk
RS767217536
Likely pathogenic
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
Health Risk
RS1064797102
Pathogenic
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1391158579 | Health Risk | Conflicting classifications of pathogenicity | OTUD6B-related disorder, Intellectual developmental disorder with dysmorphic facies, seizures |
| RS143121527 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual developmental disorder with dysmorphic facies, seizures |
| RS143832637 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies |
| RS186307892 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies |
| RS199542428 | Health Risk | Conflicting classifications of pathogenicity | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies |
| RS1064797103 | Health Risk | Likely pathogenic | Intellectual disability, Epilepsy, Dysmorphic features |
| RS1395982289 | Health Risk | Likely pathogenic | — |
| RS150848976 | Health Risk | Likely pathogenic | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies |
| RS2130446714 | Health Risk | Likely pathogenic | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies |
| RS2488421311 | Health Risk | Likely pathogenic | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies |
| RS767217536 | Health Risk | Likely pathogenic | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies |
| RS1064797102 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies |
| RS2130436818 | Health Risk | Pathogenic | — |
| RS2488421245 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies |
| RS368313959 | Health Risk | Pathogenic | Epilepsy, Dysmorphic features, Intellectual disability |
| RS747009288 | Health Risk | Pathogenic | — |
| RS759317757 | Health Risk | Pathogenic | Intellectual disability, Epilepsy, Dysmorphic features |
| RS764539241 | Health Risk | Pathogenic | — |
| RS772032719 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies |
| RS779499353 | Health Risk | Pathogenic | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies |
| RS1472577530 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies |
| RS748735420 | Health Risk | Pathogenic/Likely pathogenic | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies |