OTUD6B (OTU deubiquitinase 6B)

Gene

• Entrez ID: 51633
• Gene name: OTU deubiquitinase 6B
• Gene symbol: OTUD6B
• Synonyms (NCBI Gene): CGI-77, DUBA-5, DUBA5, IDDFSDA
• Chromosome: 8
• Chromosome location: 8q21.3
• Summary: 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 neg

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs150848976	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs368313959	C>T	Pathogenic	Stop gained, coding sequence variant
rs747009288	G>A,C	Pathogenic	Splice donor variant
rs759317757	TTAAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064797103	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1208011	hsa-miR-1179	CLIP-seq
MIRT1208012	hsa-miR-1283	CLIP-seq
MIRT1208013	hsa-miR-196a	CLIP-seq
MIRT1208014	hsa-miR-196b	CLIP-seq
MIRT1208015	hsa-miR-199a-3p	CLIP-seq
MIRT1208016	hsa-miR-199b-3p	CLIP-seq
MIRT1208017	hsa-miR-3065-3p	CLIP-seq
MIRT1208018	hsa-miR-3125	CLIP-seq
MIRT1208019	hsa-miR-3129-5p	CLIP-seq
MIRT1208020	hsa-miR-3529	CLIP-seq
MIRT1208021	hsa-miR-3614-5p	CLIP-seq
MIRT1208022	hsa-miR-379	CLIP-seq
MIRT1208023	hsa-miR-3916	CLIP-seq
MIRT1208024	hsa-miR-4277	CLIP-seq
MIRT1208025	hsa-miR-4291	CLIP-seq
MIRT1208026	hsa-miR-4451	CLIP-seq
MIRT1208027	hsa-miR-4499	CLIP-seq
MIRT1208028	hsa-miR-4513	CLIP-seq
MIRT1208029	hsa-miR-4645-3p	CLIP-seq
MIRT1208030	hsa-miR-4650-3p	CLIP-seq
MIRT1208031	hsa-miR-4703-3p	CLIP-seq
MIRT1208032	hsa-miR-4742-3p	CLIP-seq
MIRT1208033	hsa-miR-4773	CLIP-seq
MIRT1208034	hsa-miR-4799-5p	CLIP-seq
MIRT1208035	hsa-miR-495	CLIP-seq
MIRT1208036	hsa-miR-510	CLIP-seq
MIRT1208037	hsa-miR-512-5p	CLIP-seq
MIRT1208038	hsa-miR-548ag	CLIP-seq
MIRT1208039	hsa-miR-548ai	CLIP-seq
MIRT1208040	hsa-miR-548u	CLIP-seq
MIRT1208041	hsa-miR-561	CLIP-seq
MIRT1208042	hsa-miR-583	CLIP-seq
MIRT1208043	hsa-miR-936	CLIP-seq
MIRT2059766	hsa-miR-1207-5p	CLIP-seq
MIRT2059767	hsa-miR-1271	CLIP-seq
MIRT2059768	hsa-miR-1298	CLIP-seq
MIRT2059769	hsa-miR-135a	CLIP-seq
MIRT2059770	hsa-miR-135b	CLIP-seq
MIRT2059771	hsa-miR-182	CLIP-seq
MIRT2059772	hsa-miR-2054	CLIP-seq
MIRT2059773	hsa-miR-23a	CLIP-seq
MIRT2059774	hsa-miR-23b	CLIP-seq
MIRT2059775	hsa-miR-23c	CLIP-seq
MIRT2059776	hsa-miR-3163	CLIP-seq
MIRT2059777	hsa-miR-340	CLIP-seq
MIRT2059778	hsa-miR-3613-3p	CLIP-seq
MIRT2059779	hsa-miR-3613-5p	CLIP-seq
MIRT2059780	hsa-miR-4282	CLIP-seq
MIRT2059781	hsa-miR-4514	CLIP-seq
MIRT2059782	hsa-miR-4692	CLIP-seq
MIRT2059783	hsa-miR-4699-3p	CLIP-seq
MIRT1208031	hsa-miR-4703-3p	CLIP-seq
MIRT2059784	hsa-miR-4736	CLIP-seq
MIRT2059785	hsa-miR-4763-3p	CLIP-seq
MIRT2059786	hsa-miR-490-5p	CLIP-seq
MIRT1208035	hsa-miR-495	CLIP-seq
MIRT2059787	hsa-miR-516a-3p	CLIP-seq
MIRT2059788	hsa-miR-520d-5p	CLIP-seq
MIRT2059789	hsa-miR-524-5p	CLIP-seq
MIRT2059790	hsa-miR-548c-3p	CLIP-seq
MIRT2059791	hsa-miR-548p	CLIP-seq
MIRT1208040	hsa-miR-548u	CLIP-seq
MIRT2059792	hsa-miR-579	CLIP-seq
MIRT2059793	hsa-miR-96	CLIP-seq
MIRT2288115	hsa-miR-1251	CLIP-seq
MIRT2288116	hsa-miR-1252	CLIP-seq
MIRT2288117	hsa-miR-1323	CLIP-seq
MIRT2288118	hsa-miR-217	CLIP-seq
MIRT2288119	hsa-miR-219-1-3p	CLIP-seq
MIRT2288120	hsa-miR-3122	CLIP-seq
MIRT2288121	hsa-miR-3153	CLIP-seq
MIRT2288122	hsa-miR-3660	CLIP-seq
MIRT2288123	hsa-miR-3913-5p	CLIP-seq
MIRT2288124	hsa-miR-409-5p	CLIP-seq
MIRT2288125	hsa-miR-4261	CLIP-seq
MIRT2288126	hsa-miR-4418	CLIP-seq
MIRT2288127	hsa-miR-4420	CLIP-seq
MIRT2288128	hsa-miR-4470	CLIP-seq
MIRT2288129	hsa-miR-4526	CLIP-seq
MIRT2288130	hsa-miR-4668-5p	CLIP-seq
MIRT2288131	hsa-miR-4698	CLIP-seq
MIRT2288132	hsa-miR-499-3p	CLIP-seq
MIRT2288133	hsa-miR-499a-3p	CLIP-seq
MIRT2288134	hsa-miR-509-3-5p	CLIP-seq
MIRT2288135	hsa-miR-509-5p	CLIP-seq
MIRT2288136	hsa-miR-548o	CLIP-seq
MIRT2059791	hsa-miR-548p	CLIP-seq
MIRT2288137	hsa-miR-568	CLIP-seq
MIRT2288138	hsa-miR-571	CLIP-seq
MIRT2059792	hsa-miR-579	CLIP-seq
MIRT1208011	hsa-miR-1179	CLIP-seq
MIRT1208013	hsa-miR-196a	CLIP-seq
MIRT1208014	hsa-miR-196b	CLIP-seq
MIRT1208015	hsa-miR-199a-3p	CLIP-seq
MIRT1208016	hsa-miR-199b-3p	CLIP-seq
MIRT1208019	hsa-miR-3129-5p	CLIP-seq
MIRT2059776	hsa-miR-3163	CLIP-seq
MIRT2059777	hsa-miR-340	CLIP-seq
MIRT2059779	hsa-miR-3613-5p	CLIP-seq
MIRT2586292	hsa-miR-3925-3p	CLIP-seq
MIRT2586293	hsa-miR-4263	CLIP-seq
MIRT2586294	hsa-miR-4659a-5p	CLIP-seq
MIRT2586295	hsa-miR-4659b-5p	CLIP-seq
MIRT2059783	hsa-miR-4699-3p	CLIP-seq
MIRT1208031	hsa-miR-4703-3p	CLIP-seq
MIRT2586296	hsa-miR-4720-3p	CLIP-seq
MIRT2586297	hsa-miR-4764-3p	CLIP-seq
MIRT2586298	hsa-miR-4776-3p	CLIP-seq
MIRT1208034	hsa-miR-4799-5p	CLIP-seq
MIRT2586299	hsa-miR-4804-3p	CLIP-seq
MIRT2059786	hsa-miR-490-5p	CLIP-seq
MIRT2586300	hsa-miR-508-5p	CLIP-seq
MIRT2586301	hsa-miR-548a-3p	CLIP-seq
MIRT2586302	hsa-miR-548ac	CLIP-seq
MIRT2586303	hsa-miR-548ae	CLIP-seq
MIRT1208038	hsa-miR-548ag	CLIP-seq
MIRT1208039	hsa-miR-548ai	CLIP-seq
MIRT2586304	hsa-miR-548aj	CLIP-seq
MIRT2586305	hsa-miR-548am	CLIP-seq
MIRT2059790	hsa-miR-548c-3p	CLIP-seq
MIRT2586306	hsa-miR-548d-3p	CLIP-seq
MIRT2586307	hsa-miR-548e	CLIP-seq
MIRT2586308	hsa-miR-548f	CLIP-seq
MIRT2059791	hsa-miR-548p	CLIP-seq
MIRT2586309	hsa-miR-548x	CLIP-seq
MIRT2586310	hsa-miR-548z	CLIP-seq
MIRT2586311	hsa-miR-576-5p	CLIP-seq
MIRT1208043	hsa-miR-936	CLIP-seq
MIRT1208011	hsa-miR-1179	CLIP-seq
MIRT1208013	hsa-miR-196a	CLIP-seq
MIRT1208014	hsa-miR-196b	CLIP-seq
MIRT1208015	hsa-miR-199a-3p	CLIP-seq
MIRT1208016	hsa-miR-199b-3p	CLIP-seq
MIRT1208017	hsa-miR-3065-3p	CLIP-seq
MIRT1208019	hsa-miR-3129-5p	CLIP-seq
MIRT2059776	hsa-miR-3163	CLIP-seq
MIRT2059777	hsa-miR-340	CLIP-seq
MIRT1208020	hsa-miR-3529	CLIP-seq
MIRT1208021	hsa-miR-3614-5p	CLIP-seq
MIRT1208022	hsa-miR-379	CLIP-seq
MIRT2586292	hsa-miR-3925-3p	CLIP-seq
MIRT2586293	hsa-miR-4263	CLIP-seq
MIRT1208024	hsa-miR-4277	CLIP-seq
MIRT1208025	hsa-miR-4291	CLIP-seq
MIRT1208026	hsa-miR-4451	CLIP-seq
MIRT1208030	hsa-miR-4650-3p	CLIP-seq
MIRT2586294	hsa-miR-4659a-5p	CLIP-seq
MIRT2586295	hsa-miR-4659b-5p	CLIP-seq
MIRT2059783	hsa-miR-4699-3p	CLIP-seq
MIRT1208031	hsa-miR-4703-3p	CLIP-seq
MIRT2586296	hsa-miR-4720-3p	CLIP-seq
MIRT2586297	hsa-miR-4764-3p	CLIP-seq
MIRT1208033	hsa-miR-4773	CLIP-seq
MIRT2586298	hsa-miR-4776-3p	CLIP-seq
MIRT1208034	hsa-miR-4799-5p	CLIP-seq
MIRT2586299	hsa-miR-4804-3p	CLIP-seq
MIRT2586300	hsa-miR-508-5p	CLIP-seq
MIRT1208036	hsa-miR-510	CLIP-seq
MIRT1208037	hsa-miR-512-5p	CLIP-seq
MIRT2586301	hsa-miR-548a-3p	CLIP-seq
MIRT2586302	hsa-miR-548ac	CLIP-seq
MIRT2586303	hsa-miR-548ae	CLIP-seq
MIRT1208038	hsa-miR-548ag	CLIP-seq
MIRT1208039	hsa-miR-548ai	CLIP-seq
MIRT2586304	hsa-miR-548aj	CLIP-seq
MIRT2586305	hsa-miR-548am	CLIP-seq
MIRT2059790	hsa-miR-548c-3p	CLIP-seq
MIRT2586306	hsa-miR-548d-3p	CLIP-seq
MIRT2586307	hsa-miR-548e	CLIP-seq
MIRT2586308	hsa-miR-548f	CLIP-seq
MIRT2586309	hsa-miR-548x	CLIP-seq
MIRT2586310	hsa-miR-548z	CLIP-seq
MIRT2586311	hsa-miR-576-5p	CLIP-seq
MIRT1208043	hsa-miR-936	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004843	Function	Cysteine-type deubiquitinase activity	IBA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IDA	21267069
GO:0004843	Function	Cysteine-type deubiquitinase activity	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 33421002, 33961781
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0008283	Process	Cell population proliferation	IDA	27864334
GO:0016281	Component	Eukaryotic translation initiation factor 4F complex	IDA	27864334
GO:0016579	Process	Protein deubiquitination	IDA	21267069
GO:0016579	Process	Protein deubiquitination	IEA
GO:0016579	Process	Protein deubiquitination	IMP	27864334
GO:0016787	Function	Hydrolase activity	IEA
GO:0017148	Process	Negative regulation of translation	IMP	27864334
GO:0043248	Process	Proteasome assembly	IMP	28343629
GO:0045727	Process	Positive regulation of translation	IMP	27864334

Other IDs

• MIM: 612021
• HGNC: 24281
• e!Ensembl: ENSG00000155100

Protein

• UniProt ID: Q8N6M0
• Protein name: Deubiquitinase OTUD6B (EC 3.4.19.12) (DUBA-5) (OTU domain-containing protein 6B)
• Protein function: [Isoform 1]: Deubiquitinating enzyme that may play a role in the ubiquitin-dependent regulation of protein synthesis, downstream of mTORC1 (PubMed:21267069, PubMed:27864334). May associate with the protein synthesis initiation complex and modify
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02338	OTU	153 → 278	OTU-like cysteine protease	Family

• Sequence:

  MEAVLTEELDEEEQLLRRHRKEKKELQAKIQGMKNAVPKNDKKRRKQLTEDVAKLEKEME
  QKHREELEQLKLTTKENKIDSVAVNISNLVLENQPPRISKAQKRREKKAALEKEREERIA
  EAEIENLTGARHMESEKLAQILAARQLEIKQIPSDGHCMYKAIEDQLKEKDCALTVVALR
  SQTAEYMQSHVEDFLPFLTNPNTGDMYTPEEFQKYCEDIVNTAAWGGQLELRALSHILQT
  PIEIIQADSPPIIVGEEYSKKPLILVYMRHAYGLGEHYNSVTRLVNIVTENCS

• Sequence length: 293

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Colorectal cancer	Pathogenic	rs368313959	RCV005900715	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysmorphic features	Pathogenic; Likely pathogenic	rs368313959, rs759317757, rs1064797102, rs1064797103	RCV000491014 RCV000491466 RCV000491932 RCV000490986	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Pathogenic; Likely pathogenic	rs368313959, rs759317757, rs1064797102, rs1064797103	RCV000491014 RCV000491466 RCV000491932 RCV000490986	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	Pathogenic; Likely pathogenic	rs772032719, rs767217536, rs748735420, rs1472577530, rs2130446714, rs2488421311, rs2488421245, rs368313959, rs759317757, rs1064797102, rs1064797103, rs150848976, rs779499353	RCV001330700 RCV001782559 RCV001807975 RCV002266033 RCV002266034 RCV002508983 RCV003388646 RCV000487564 RCV000487729 RCV000488135 RCV000487494 RCV000677720 RCV003339559	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs368313959, rs759317757, rs1064797102, rs1064797103	RCV000491014 RCV000491466 RCV000491932 RCV000490986	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTUD6B-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Aging Premature	Associate	37110517	★☆☆☆☆ Found in Text Mining only
Alcohol Related Disorders	Associate	34680978	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	33225954, 35441740, 37110517	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	32952848	★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Associate	27864334	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Inhibit	32256450	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Associate	35110537	★☆☆☆☆ Found in Text Mining only
Cell Transformation Neoplastic	Associate	36052059	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Associate	32924626	★☆☆☆☆ Found in Text Mining only
Drug Related Side Effects and Adverse Reactions	Associate	32952848	★☆☆☆☆ Found in Text Mining only
Edema	Associate	34680978	★☆☆☆☆ Found in Text Mining only
Epilepsy	Associate	34680978	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Esophageal Squamous Cell Carcinoma	Inhibit	37038094	★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Associate	34680978	★☆☆☆☆ Found in Text Mining only
Fryns syndrome	Associate	34680978	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Associate	32924626	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Associate	32924626, 34680978, 35430327	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung Neoplasms	Associate	36052059	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Inhibit	32256450	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Associate	36059274	★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	32256450	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	34440306, 36059274	★☆☆☆☆ Found in Text Mining only
Neoplasms	Stimulate	36052059	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Associate	34440306	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Stimulate	36052059	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Associate	29179949	★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Inhibit	31156645	★☆☆☆☆ Found in Text Mining only
Seizures	Associate	32924626	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Inhibit	32256450	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Associate	32952848	★☆☆☆☆ Found in Text Mining only
von Hippel Lindau Disease	Associate	35110537	★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Associate	34680978	★☆☆☆☆ Found in Text Mining only