OTOL1 (Entrez ID: 131149)

Entrez Gene ID	131149
Official Gene Symbol	OTOL1 (GeneCards)
Full name	otolin 1
Location	3q26.1
Other ids	Vega : OTTHUMG00000159074 HGNC : HGNC:34071 Ensembl : ENSG00000182447
Other names	C1QTNF15, C1QTNF16
Summary	This gene encodes a secreted glycoprotein with a C-terminal complement Cq1-like globular domain that belongs to the C1q/tumor necrosis factor-related protein (CTRP) family. The encoded protein is expressed in the inner ear and forms a multimeric complex called the otoconia, together with cerebellin-1 and otoconin-90, as part of the otoconial membrane. It contains extensive posttranslational modifications including hydroxylated prolines and glycosylated lysines. Naturally occurring mutations in this gene are associated with abnormal otoconia formation and balance deficits resulting from vestibular dysfunction. [provided by RefSeq, Jul 2017]

Variants

Found 33 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
4661	131149	OTOL1	3	162061344	162061344	Asymptomatic	HiSeq X Ten
4770	131149	OTOL1	3	162869852	162869852	Asymptomatic	HiSeq X Ten
4800	131149	OTOL1	3	162201502	162201502	Asymptomatic	HiSeq X Ten
4935	131149	OTOL1	3	161750102	161750102	Asymptomatic	HiSeq X Ten
4975	131149	OTOL1	3	162283122	162283122	Asymptomatic	HiSeq X Ten
5017	131149	OTOL1	3	162611510	162611510	Asymptomatic	HiSeq X Ten
5154	131149	OTOL1	3	162520178	162520178	Asymptomatic	HiSeq X Ten
5253	131149	OTOL1	3	161503735	161503735	Asymptomatic	HiSeq X Ten
5266	131149	OTOL1	3	162523338	162523338	Asymptomatic	HiSeq X Ten
5287	131149	OTOL1	3	162764033	162764033	Asymptomatic	HiSeq X Ten
5301	131149	OTOL1	3	162732034	162732034	Asymptomatic	HiSeq X Ten
5328	131149	OTOL1	3	161674937	161674937	Asymptomatic	HiSeq X Ten
5439	131149	OTOL1	3	162428761	162428761	Asymptomatic	HiSeq X Ten
5532	131149	OTOL1	3	161470392	161470392	Asymptomatic	HiSeq X Ten
5668	131149	OTOL1	3	161940936	161940936	Cockayne syndrome	HiSeq X Ten
5977	131149	OTOL1	3	162882806	162882806	Xeroderma Pigmentosum	HiSeq X Ten
25041	131149	OTOL1	3	162021248	162021248	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
25059	131149	OTOL1	3	162021248	162021248	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
25060	131149	OTOL1	3	162051157	162051157	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
25061	131149	OTOL1	3	162265520	162265520	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
25086	131149	OTOL1	3	162021248	162021248	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
25109	131149	OTOL1	3	162021248	162021248	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
25168	131149	OTOL1	3	162021248	162021248	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
25185	131149	OTOL1	3	162021248	162021248	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
25202	131149	OTOL1	3	162021248	162021248	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
25214	131149	OTOL1	3	162021248	162021248	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
25234	131149	OTOL1	3	162021248	162021248	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
25243	131149	OTOL1	3	162021248	162021248	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
25257	131149	OTOL1	3	162021248	162021248	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
25320	131149	OTOL1	3	161768489	161768489	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
25321	131149	OTOL1	3	162582385	162582385	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
25349	131149	OTOL1	3	161768782	161768782	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
25363	131149	OTOL1	3	162795721	162795721	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning