COX6B1 (cytochrome c oxidase subunit 6B1)

Gene

• Entrez ID: 1340
• Gene name: Cytochrome c oxidase subunit 6B1
• Gene symbol: COX6B1
• Synonyms (NCBI Gene): COX6B, COXG, COXVIb1, MC4DN7
• Chromosome: 19
• Chromosome location: 19q13.12
• Summary: Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909602	G>A	Pathogenic	Coding sequence variant, missense variant
rs778740017	C>T	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT044502	hsa-miR-320a	CLASH	23622248
MIRT038293	hsa-miR-130b-5p	CLASH	23622248
MIRT036188	hsa-miR-320b	CLASH	23622248
MIRT711874	hsa-miR-3146	HITS-CLIP	19536157
MIRT711873	hsa-miR-621	HITS-CLIP	19536157
MIRT711872	hsa-miR-6131	HITS-CLIP	19536157
MIRT711871	hsa-miR-1180-3p	HITS-CLIP	19536157
MIRT711870	hsa-miR-4474-3p	HITS-CLIP	19536157
MIRT696503	hsa-miR-141-3p	HITS-CLIP	23313552
MIRT696502	hsa-miR-200a-3p	HITS-CLIP	23313552
MIRT696501	hsa-miR-6757-3p	HITS-CLIP	23313552
MIRT696500	hsa-miR-6134	HITS-CLIP	23313552
MIRT696499	hsa-miR-377-5p	HITS-CLIP	23313552
MIRT696498	hsa-miR-6086	HITS-CLIP	23313552
MIRT696497	hsa-miR-3689d	HITS-CLIP	23313552
MIRT696496	hsa-miR-6851-5p	HITS-CLIP	23313552
MIRT696494	hsa-miR-6880-5p	HITS-CLIP	23313552
MIRT696495	hsa-miR-7847-3p	HITS-CLIP	23313552
MIRT696493	hsa-miR-455-3p	HITS-CLIP	23313552
MIRT696492	hsa-miR-6516-5p	HITS-CLIP	23313552
MIRT696491	hsa-miR-1207-3p	HITS-CLIP	23313552
MIRT696490	hsa-miR-378g	HITS-CLIP	23313552
MIRT696489	hsa-miR-6776-5p	HITS-CLIP	23313552
MIRT696488	hsa-miR-214-5p	HITS-CLIP	23313552
MIRT696487	hsa-miR-6811-3p	HITS-CLIP	23313552
MIRT696486	hsa-miR-6847-3p	HITS-CLIP	23313552
MIRT696485	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT696484	hsa-miR-4284	HITS-CLIP	23313552
MIRT696483	hsa-miR-24-3p	HITS-CLIP	23313552
MIRT696482	hsa-miR-4505	HITS-CLIP	23313552
MIRT696481	hsa-miR-5787	HITS-CLIP	23313552
MIRT696480	hsa-miR-4656	HITS-CLIP	23313552
MIRT696479	hsa-miR-6829-5p	HITS-CLIP	23313552
MIRT696478	hsa-miR-4492	HITS-CLIP	23313552
MIRT696477	hsa-miR-4498	HITS-CLIP	23313552
MIRT696476	hsa-miR-5001-5p	HITS-CLIP	23313552
MIRT696475	hsa-miR-762	HITS-CLIP	23313552
MIRT696474	hsa-miR-4675	HITS-CLIP	23313552
MIRT696473	hsa-miR-4741	HITS-CLIP	23313552
MIRT696472	hsa-miR-6772-5p	HITS-CLIP	23313552
MIRT696471	hsa-miR-4455	HITS-CLIP	23313552
MIRT696470	hsa-miR-609	HITS-CLIP	23313552
MIRT524392	hsa-miR-7977	HITS-CLIP	23313552
MIRT696469	hsa-miR-6514-3p	HITS-CLIP	23313552
MIRT696468	hsa-miR-1587	HITS-CLIP	23313552
MIRT696467	hsa-miR-3620-5p	HITS-CLIP	23313552
MIRT682652	hsa-miR-890	HITS-CLIP	23706177
MIRT682651	hsa-miR-4695-5p	HITS-CLIP	23706177
MIRT682650	hsa-miR-4779	HITS-CLIP	23706177
MIRT367242	hsa-miR-2392	HITS-CLIP	23706177
MIRT562459	hsa-miR-3929	HITS-CLIP	23706177
MIRT562460	hsa-miR-4419b	HITS-CLIP	23706177
MIRT562458	hsa-miR-4478	HITS-CLIP	23706177
MIRT682649	hsa-miR-135a-5p	HITS-CLIP	23706177
MIRT682648	hsa-miR-135b-5p	HITS-CLIP	23706177
MIRT682647	hsa-miR-3605-5p	HITS-CLIP	23706177
MIRT682646	hsa-miR-485-5p	HITS-CLIP	23706177
MIRT682645	hsa-miR-6884-5p	HITS-CLIP	23706177
MIRT682644	hsa-let-7a-5p	HITS-CLIP	23706177
MIRT682643	hsa-let-7b-5p	HITS-CLIP	23706177
MIRT682642	hsa-let-7c-5p	HITS-CLIP	23706177
MIRT682641	hsa-let-7d-5p	HITS-CLIP	23706177
MIRT682640	hsa-let-7e-5p	HITS-CLIP	23706177
MIRT682639	hsa-let-7f-5p	HITS-CLIP	23706177
MIRT682638	hsa-let-7g-5p	HITS-CLIP	23706177
MIRT682637	hsa-let-7i-5p	HITS-CLIP	23706177
MIRT682636	hsa-miR-4458	HITS-CLIP	23706177
MIRT682635	hsa-miR-4500	HITS-CLIP	23706177
MIRT682634	hsa-miR-98-5p	HITS-CLIP	23706177
MIRT682633	hsa-miR-202-3p	HITS-CLIP	23706177
MIRT682632	hsa-miR-924	HITS-CLIP	23706177
MIRT562457	hsa-miR-7160-5p	HITS-CLIP	23706177
MIRT682631	hsa-miR-6894-5p	HITS-CLIP	23706177
MIRT682630	hsa-miR-7106-5p	HITS-CLIP	23706177
MIRT682629	hsa-miR-149-3p	HITS-CLIP	23706177
MIRT682628	hsa-miR-4728-5p	HITS-CLIP	23706177
MIRT682627	hsa-miR-6785-5p	HITS-CLIP	23706177
MIRT682626	hsa-miR-6883-5p	HITS-CLIP	23706177
MIRT682625	hsa-miR-6799-5p	HITS-CLIP	23706177
MIRT682624	hsa-miR-4266	HITS-CLIP	23706177
MIRT682623	hsa-miR-937-5p	HITS-CLIP	23706177
MIRT682622	hsa-miR-627-5p	HITS-CLIP	23706177
MIRT682621	hsa-miR-30c-1-3p	HITS-CLIP	23706177
MIRT682620	hsa-miR-30c-2-3p	HITS-CLIP	23706177
MIRT682619	hsa-miR-6788-5p	HITS-CLIP	23706177
MIRT682618	hsa-miR-1273h-5p	HITS-CLIP	23706177
MIRT682617	hsa-miR-30b-3p	HITS-CLIP	23706177
MIRT682616	hsa-miR-3689a-3p	HITS-CLIP	23706177
MIRT682615	hsa-miR-3689b-3p	HITS-CLIP	23706177
MIRT682614	hsa-miR-3689c	HITS-CLIP	23706177
MIRT682613	hsa-miR-6779-5p	HITS-CLIP	23706177
MIRT682612	hsa-miR-6780a-5p	HITS-CLIP	23706177
MIRT682611	hsa-miR-8081	HITS-CLIP	23706177
MIRT682610	hsa-miR-887-5p	HITS-CLIP	23706177
MIRT682609	hsa-miR-665	HITS-CLIP	23706177
MIRT367239	hsa-miR-3125	PAR-CLIP	20371350
MIRT367240	hsa-miR-3916	PAR-CLIP	20371350
MIRT367250	hsa-miR-6859-5p	PAR-CLIP	20371350
MIRT367249	hsa-miR-6847-5p	PAR-CLIP	20371350
MIRT367246	hsa-miR-5004-5p	PAR-CLIP	20371350
MIRT367252	hsa-miR-7154-3p	PAR-CLIP	20371350
MIRT082022	hsa-miR-433-3p	PAR-CLIP	20371350
MIRT082021	hsa-miR-224-5p	PAR-CLIP	20371350
MIRT082026	hsa-miR-6165	PAR-CLIP	20371350
MIRT082025	hsa-miR-4690-5p	PAR-CLIP	20371350
MIRT082027	hsa-miR-6510-5p	PAR-CLIP	20371350
MIRT558610	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT558609	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT082024	hsa-miR-374b-3p	PAR-CLIP	20371350
MIRT562459	hsa-miR-3929	PAR-CLIP	20371350
MIRT562460	hsa-miR-4419b	PAR-CLIP	20371350
MIRT562458	hsa-miR-4478	PAR-CLIP	20371350
MIRT562457	hsa-miR-7160-5p	PAR-CLIP	20371350
MIRT524393	hsa-miR-4533	PAR-CLIP	20371350
MIRT524394	hsa-miR-3202	PAR-CLIP	20371350
MIRT524392	hsa-miR-7977	PAR-CLIP	20371350
MIRT524391	hsa-miR-6079	PAR-CLIP	20371350
MIRT524390	hsa-miR-7850-5p	PAR-CLIP	20371350
MIRT567999	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT567998	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT567997	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT567996	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT567995	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT567994	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT567993	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT567992	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT567991	hsa-miR-302a-3p	PAR-CLIP	20371350
MIRT567990	hsa-miR-302b-3p	PAR-CLIP	20371350
MIRT567989	hsa-miR-302c-3p	PAR-CLIP	20371350
MIRT567988	hsa-miR-302d-3p	PAR-CLIP	20371350
MIRT567987	hsa-miR-302e	PAR-CLIP	20371350
MIRT567986	hsa-miR-372-3p	PAR-CLIP	20371350
MIRT567985	hsa-miR-373-3p	PAR-CLIP	20371350
MIRT567984	hsa-miR-520a-3p	PAR-CLIP	20371350
MIRT567983	hsa-miR-520b	PAR-CLIP	20371350
MIRT567982	hsa-miR-520c-3p	PAR-CLIP	20371350
MIRT567981	hsa-miR-520d-3p	PAR-CLIP	20371350
MIRT567980	hsa-miR-520e	PAR-CLIP	20371350
MIRT567979	hsa-miR-552-3p	PAR-CLIP	20371350
MIRT567978	hsa-miR-296-3p	PAR-CLIP	20371350
MIRT567977	hsa-miR-3934-5p	PAR-CLIP	20371350
MIRT567976	hsa-miR-5095	PAR-CLIP	20371350
MIRT567975	hsa-miR-7151-3p	PAR-CLIP	20371350
MIRT512138	hsa-miR-6807-5p	PAR-CLIP	20371350
MIRT512137	hsa-miR-4701-5p	PAR-CLIP	20371350
MIRT562459	hsa-miR-3929	PAR-CLIP	20371350
MIRT562460	hsa-miR-4419b	PAR-CLIP	20371350
MIRT562458	hsa-miR-4478	PAR-CLIP	20371350
MIRT562457	hsa-miR-7160-5p	PAR-CLIP	20371350
MIRT524393	hsa-miR-4533	PAR-CLIP	20371350
MIRT524394	hsa-miR-3202	PAR-CLIP	20371350
MIRT524392	hsa-miR-7977	PAR-CLIP	20371350
MIRT524391	hsa-miR-6079	PAR-CLIP	20371350
MIRT524390	hsa-miR-7850-5p	PAR-CLIP	20371350
MIRT562459	hsa-miR-3929	PAR-CLIP	20371350
MIRT562460	hsa-miR-4419b	PAR-CLIP	20371350
MIRT562458	hsa-miR-4478	PAR-CLIP	20371350
MIRT562457	hsa-miR-7160-5p	PAR-CLIP	20371350
MIRT524393	hsa-miR-4533	PAR-CLIP	20371350
MIRT524394	hsa-miR-3202	PAR-CLIP	20371350
MIRT524392	hsa-miR-7977	PAR-CLIP	20371350
MIRT524391	hsa-miR-6079	PAR-CLIP	20371350
MIRT524390	hsa-miR-7850-5p	PAR-CLIP	20371350
MIRT082022	hsa-miR-433-3p	PAR-CLIP	21572407
MIRT082021	hsa-miR-224-5p	PAR-CLIP	21572407
MIRT082026	hsa-miR-6165	PAR-CLIP	21572407
MIRT082025	hsa-miR-4690-5p	PAR-CLIP	21572407
MIRT082027	hsa-miR-6510-5p	PAR-CLIP	21572407
MIRT558614	hsa-miR-4661-3p	PAR-CLIP	21572407
MIRT558613	hsa-miR-939-3p	PAR-CLIP	21572407
MIRT558612	hsa-miR-6852-5p	PAR-CLIP	21572407
MIRT558611	hsa-miR-6742-3p	PAR-CLIP	21572407
MIRT558610	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT558609	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT558608	hsa-miR-1343-3p	PAR-CLIP	21572407
MIRT558607	hsa-miR-6783-3p	PAR-CLIP	21572407
MIRT082024	hsa-miR-374b-3p	PAR-CLIP	21572407
MIRT082023	hsa-miR-651-5p	PAR-CLIP	21572407
MIRT512139	hsa-miR-4707-5p	PAR-CLIP	23446348
MIRT512138	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT512137	hsa-miR-4701-5p	PAR-CLIP	23446348
MIRT524393	hsa-miR-4533	PAR-CLIP	23446348
MIRT524394	hsa-miR-3202	PAR-CLIP	23446348
MIRT524392	hsa-miR-7977	PAR-CLIP	23446348
MIRT524391	hsa-miR-6079	PAR-CLIP	23446348
MIRT524390	hsa-miR-7850-5p	PAR-CLIP	23446348
MIRT512149	hsa-miR-548aa	PAR-CLIP	23446348
MIRT512148	hsa-miR-548ap-3p	PAR-CLIP	23446348
MIRT512147	hsa-miR-548t-3p	PAR-CLIP	23446348
MIRT512146	hsa-miR-548as-3p	PAR-CLIP	23446348
MIRT512145	hsa-miR-548at-3p	PAR-CLIP	23446348
MIRT512144	hsa-miR-548ay-3p	PAR-CLIP	23446348
MIRT512143	hsa-miR-6771-3p	PAR-CLIP	23446348
MIRT512142	hsa-miR-6849-3p	PAR-CLIP	23446348
MIRT512141	hsa-miR-4786-5p	PAR-CLIP	23446348
MIRT512140	hsa-miR-769-5p	PAR-CLIP	23446348
MIRT512139	hsa-miR-4707-5p	PAR-CLIP	23446348
MIRT512138	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT512137	hsa-miR-4701-5p	PAR-CLIP	23446348
MIRT512142	hsa-miR-6849-3p	HITS-CLIP	27418678
MIRT711874	hsa-miR-3146	HITS-CLIP	19536157
MIRT711873	hsa-miR-621	HITS-CLIP	19536157
MIRT711872	hsa-miR-6131	HITS-CLIP	19536157
MIRT711871	hsa-miR-1180-3p	HITS-CLIP	19536157
MIRT711870	hsa-miR-4474-3p	HITS-CLIP	19536157
MIRT696503	hsa-miR-141-3p	HITS-CLIP	23313552
MIRT696502	hsa-miR-200a-3p	HITS-CLIP	23313552
MIRT696501	hsa-miR-6757-3p	HITS-CLIP	23313552
MIRT696500	hsa-miR-6134	HITS-CLIP	23313552
MIRT696499	hsa-miR-377-5p	HITS-CLIP	23313552
MIRT696498	hsa-miR-6086	HITS-CLIP	23313552
MIRT696497	hsa-miR-3689d	HITS-CLIP	23313552
MIRT696496	hsa-miR-6851-5p	HITS-CLIP	23313552
MIRT696494	hsa-miR-6880-5p	HITS-CLIP	23313552
MIRT696495	hsa-miR-7847-3p	HITS-CLIP	23313552
MIRT696493	hsa-miR-455-3p	HITS-CLIP	23313552
MIRT696492	hsa-miR-6516-5p	HITS-CLIP	23313552
MIRT696491	hsa-miR-1207-3p	HITS-CLIP	23313552
MIRT696490	hsa-miR-378g	HITS-CLIP	23313552
MIRT696489	hsa-miR-6776-5p	HITS-CLIP	23313552
MIRT696488	hsa-miR-214-5p	HITS-CLIP	23313552
MIRT696487	hsa-miR-6811-3p	HITS-CLIP	23313552
MIRT696486	hsa-miR-6847-3p	HITS-CLIP	23313552
MIRT696485	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT696484	hsa-miR-4284	HITS-CLIP	23313552
MIRT696483	hsa-miR-24-3p	HITS-CLIP	23313552
MIRT696482	hsa-miR-4505	HITS-CLIP	23313552
MIRT696481	hsa-miR-5787	HITS-CLIP	23313552
MIRT696480	hsa-miR-4656	HITS-CLIP	23313552
MIRT696479	hsa-miR-6829-5p	HITS-CLIP	23313552
MIRT696478	hsa-miR-4492	HITS-CLIP	23313552
MIRT696477	hsa-miR-4498	HITS-CLIP	23313552
MIRT696476	hsa-miR-5001-5p	HITS-CLIP	23313552
MIRT696475	hsa-miR-762	HITS-CLIP	23313552
MIRT696474	hsa-miR-4675	HITS-CLIP	23313552
MIRT696473	hsa-miR-4741	HITS-CLIP	23313552
MIRT696472	hsa-miR-6772-5p	HITS-CLIP	23313552
MIRT696471	hsa-miR-4455	HITS-CLIP	23313552
MIRT696470	hsa-miR-609	HITS-CLIP	23313552
MIRT524392	hsa-miR-7977	HITS-CLIP	23313552
MIRT696469	hsa-miR-6514-3p	HITS-CLIP	23313552
MIRT696468	hsa-miR-1587	HITS-CLIP	23313552
MIRT696467	hsa-miR-3620-5p	HITS-CLIP	23313552
MIRT682652	hsa-miR-890	HITS-CLIP	23706177
MIRT682651	hsa-miR-4695-5p	HITS-CLIP	23706177
MIRT682650	hsa-miR-4779	HITS-CLIP	23706177
MIRT367242	hsa-miR-2392	HITS-CLIP	23706177
MIRT562459	hsa-miR-3929	HITS-CLIP	23706177
MIRT562460	hsa-miR-4419b	HITS-CLIP	23706177
MIRT562458	hsa-miR-4478	HITS-CLIP	23706177
MIRT682649	hsa-miR-135a-5p	HITS-CLIP	23706177
MIRT682648	hsa-miR-135b-5p	HITS-CLIP	23706177
MIRT682647	hsa-miR-3605-5p	HITS-CLIP	23706177
MIRT682646	hsa-miR-485-5p	HITS-CLIP	23706177
MIRT682645	hsa-miR-6884-5p	HITS-CLIP	23706177
MIRT682644	hsa-let-7a-5p	HITS-CLIP	23706177
MIRT682643	hsa-let-7b-5p	HITS-CLIP	23706177
MIRT682642	hsa-let-7c-5p	HITS-CLIP	23706177
MIRT682641	hsa-let-7d-5p	HITS-CLIP	23706177
MIRT682640	hsa-let-7e-5p	HITS-CLIP	23706177
MIRT682639	hsa-let-7f-5p	HITS-CLIP	23706177
MIRT682638	hsa-let-7g-5p	HITS-CLIP	23706177
MIRT682637	hsa-let-7i-5p	HITS-CLIP	23706177
MIRT682636	hsa-miR-4458	HITS-CLIP	23706177
MIRT682635	hsa-miR-4500	HITS-CLIP	23706177
MIRT682634	hsa-miR-98-5p	HITS-CLIP	23706177
MIRT682633	hsa-miR-202-3p	HITS-CLIP	23706177
MIRT682632	hsa-miR-924	HITS-CLIP	23706177
MIRT562457	hsa-miR-7160-5p	HITS-CLIP	23706177
MIRT682631	hsa-miR-6894-5p	HITS-CLIP	23706177
MIRT682630	hsa-miR-7106-5p	HITS-CLIP	23706177
MIRT682629	hsa-miR-149-3p	HITS-CLIP	23706177
MIRT682628	hsa-miR-4728-5p	HITS-CLIP	23706177
MIRT682627	hsa-miR-6785-5p	HITS-CLIP	23706177
MIRT682626	hsa-miR-6883-5p	HITS-CLIP	23706177
MIRT682625	hsa-miR-6799-5p	HITS-CLIP	23706177
MIRT682624	hsa-miR-4266	HITS-CLIP	23706177
MIRT682623	hsa-miR-937-5p	HITS-CLIP	23706177
MIRT682622	hsa-miR-627-5p	HITS-CLIP	23706177
MIRT682621	hsa-miR-30c-1-3p	HITS-CLIP	23706177
MIRT682620	hsa-miR-30c-2-3p	HITS-CLIP	23706177
MIRT682619	hsa-miR-6788-5p	HITS-CLIP	23706177
MIRT682618	hsa-miR-1273h-5p	HITS-CLIP	23706177
MIRT682617	hsa-miR-30b-3p	HITS-CLIP	23706177
MIRT682616	hsa-miR-3689a-3p	HITS-CLIP	23706177
MIRT682615	hsa-miR-3689b-3p	HITS-CLIP	23706177
MIRT682614	hsa-miR-3689c	HITS-CLIP	23706177
MIRT682613	hsa-miR-6779-5p	HITS-CLIP	23706177
MIRT682612	hsa-miR-6780a-5p	HITS-CLIP	23706177
MIRT682611	hsa-miR-8081	HITS-CLIP	23706177
MIRT682610	hsa-miR-887-5p	HITS-CLIP	23706177
MIRT682609	hsa-miR-665	HITS-CLIP	23706177
MIRT367239	hsa-miR-3125	PAR-CLIP	20371350
MIRT367240	hsa-miR-3916	PAR-CLIP	20371350
MIRT367250	hsa-miR-6859-5p	PAR-CLIP	20371350
MIRT367249	hsa-miR-6847-5p	PAR-CLIP	20371350
MIRT367246	hsa-miR-5004-5p	PAR-CLIP	20371350
MIRT367252	hsa-miR-7154-3p	PAR-CLIP	20371350
MIRT082022	hsa-miR-433-3p	PAR-CLIP	20371350
MIRT082021	hsa-miR-224-5p	PAR-CLIP	20371350
MIRT082026	hsa-miR-6165	PAR-CLIP	20371350
MIRT082025	hsa-miR-4690-5p	PAR-CLIP	20371350
MIRT082027	hsa-miR-6510-5p	PAR-CLIP	20371350
MIRT558610	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT558609	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT082024	hsa-miR-374b-3p	PAR-CLIP	20371350
MIRT562459	hsa-miR-3929	PAR-CLIP	20371350
MIRT562460	hsa-miR-4419b	PAR-CLIP	20371350
MIRT562458	hsa-miR-4478	PAR-CLIP	20371350
MIRT562457	hsa-miR-7160-5p	PAR-CLIP	20371350
MIRT524393	hsa-miR-4533	PAR-CLIP	20371350
MIRT524394	hsa-miR-3202	PAR-CLIP	20371350
MIRT524392	hsa-miR-7977	PAR-CLIP	20371350
MIRT524391	hsa-miR-6079	PAR-CLIP	20371350
MIRT524390	hsa-miR-7850-5p	PAR-CLIP	20371350
MIRT567999	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT567998	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT567997	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT567996	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT567995	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT567994	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT567993	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT567992	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT567991	hsa-miR-302a-3p	PAR-CLIP	20371350
MIRT567990	hsa-miR-302b-3p	PAR-CLIP	20371350
MIRT567989	hsa-miR-302c-3p	PAR-CLIP	20371350
MIRT567988	hsa-miR-302d-3p	PAR-CLIP	20371350
MIRT567987	hsa-miR-302e	PAR-CLIP	20371350
MIRT567986	hsa-miR-372-3p	PAR-CLIP	20371350
MIRT567985	hsa-miR-373-3p	PAR-CLIP	20371350
MIRT567984	hsa-miR-520a-3p	PAR-CLIP	20371350
MIRT567983	hsa-miR-520b	PAR-CLIP	20371350
MIRT567982	hsa-miR-520c-3p	PAR-CLIP	20371350
MIRT567981	hsa-miR-520d-3p	PAR-CLIP	20371350
MIRT567980	hsa-miR-520e	PAR-CLIP	20371350
MIRT567979	hsa-miR-552-3p	PAR-CLIP	20371350
MIRT567978	hsa-miR-296-3p	PAR-CLIP	20371350
MIRT567977	hsa-miR-3934-5p	PAR-CLIP	20371350
MIRT567976	hsa-miR-5095	PAR-CLIP	20371350
MIRT567975	hsa-miR-7151-3p	PAR-CLIP	20371350
MIRT512138	hsa-miR-6807-5p	PAR-CLIP	20371350
MIRT512137	hsa-miR-4701-5p	PAR-CLIP	20371350
MIRT562459	hsa-miR-3929	PAR-CLIP	20371350
MIRT562460	hsa-miR-4419b	PAR-CLIP	20371350
MIRT562458	hsa-miR-4478	PAR-CLIP	20371350
MIRT562457	hsa-miR-7160-5p	PAR-CLIP	20371350
MIRT524393	hsa-miR-4533	PAR-CLIP	20371350
MIRT524394	hsa-miR-3202	PAR-CLIP	20371350
MIRT524392	hsa-miR-7977	PAR-CLIP	20371350
MIRT524391	hsa-miR-6079	PAR-CLIP	20371350
MIRT524390	hsa-miR-7850-5p	PAR-CLIP	20371350
MIRT562459	hsa-miR-3929	PAR-CLIP	20371350
MIRT562460	hsa-miR-4419b	PAR-CLIP	20371350
MIRT562458	hsa-miR-4478	PAR-CLIP	20371350
MIRT562457	hsa-miR-7160-5p	PAR-CLIP	20371350
MIRT524393	hsa-miR-4533	PAR-CLIP	20371350
MIRT524394	hsa-miR-3202	PAR-CLIP	20371350
MIRT524392	hsa-miR-7977	PAR-CLIP	20371350
MIRT524391	hsa-miR-6079	PAR-CLIP	20371350
MIRT524390	hsa-miR-7850-5p	PAR-CLIP	20371350
MIRT082022	hsa-miR-433-3p	PAR-CLIP	21572407
MIRT082021	hsa-miR-224-5p	PAR-CLIP	21572407
MIRT082026	hsa-miR-6165	PAR-CLIP	21572407
MIRT082025	hsa-miR-4690-5p	PAR-CLIP	21572407
MIRT082027	hsa-miR-6510-5p	PAR-CLIP	21572407
MIRT558614	hsa-miR-4661-3p	PAR-CLIP	21572407
MIRT558613	hsa-miR-939-3p	PAR-CLIP	21572407
MIRT558612	hsa-miR-6852-5p	PAR-CLIP	21572407
MIRT558611	hsa-miR-6742-3p	PAR-CLIP	21572407
MIRT558610	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT558609	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT558608	hsa-miR-1343-3p	PAR-CLIP	21572407
MIRT558607	hsa-miR-6783-3p	PAR-CLIP	21572407
MIRT082024	hsa-miR-374b-3p	PAR-CLIP	21572407
MIRT082023	hsa-miR-651-5p	PAR-CLIP	21572407
MIRT512139	hsa-miR-4707-5p	PAR-CLIP	23446348
MIRT512138	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT512137	hsa-miR-4701-5p	PAR-CLIP	23446348
MIRT524393	hsa-miR-4533	PAR-CLIP	23446348
MIRT524394	hsa-miR-3202	PAR-CLIP	23446348
MIRT524392	hsa-miR-7977	PAR-CLIP	23446348
MIRT524391	hsa-miR-6079	PAR-CLIP	23446348
MIRT524390	hsa-miR-7850-5p	PAR-CLIP	23446348
MIRT512149	hsa-miR-548aa	PAR-CLIP	23446348
MIRT512148	hsa-miR-548ap-3p	PAR-CLIP	23446348
MIRT512147	hsa-miR-548t-3p	PAR-CLIP	23446348
MIRT512146	hsa-miR-548as-3p	PAR-CLIP	23446348
MIRT512145	hsa-miR-548at-3p	PAR-CLIP	23446348
MIRT512144	hsa-miR-548ay-3p	PAR-CLIP	23446348
MIRT512143	hsa-miR-6771-3p	PAR-CLIP	23446348
MIRT512142	hsa-miR-6849-3p	PAR-CLIP	23446348
MIRT512141	hsa-miR-4786-5p	PAR-CLIP	23446348
MIRT512140	hsa-miR-769-5p	PAR-CLIP	23446348
MIRT512139	hsa-miR-4707-5p	PAR-CLIP	23446348
MIRT512138	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT512137	hsa-miR-4701-5p	PAR-CLIP	23446348
MIRT905435	hsa-miR-1225-5p	CLIP-seq
MIRT905436	hsa-miR-1343	CLIP-seq
MIRT905437	hsa-miR-197	CLIP-seq
MIRT905438	hsa-miR-224	CLIP-seq
MIRT905439	hsa-miR-3192	CLIP-seq
MIRT905440	hsa-miR-342-5p	CLIP-seq
MIRT905441	hsa-miR-412	CLIP-seq
MIRT905442	hsa-miR-433	CLIP-seq
MIRT905443	hsa-miR-4434	CLIP-seq
MIRT905444	hsa-miR-4450	CLIP-seq
MIRT905445	hsa-miR-4516	CLIP-seq
MIRT905446	hsa-miR-4524	CLIP-seq
MIRT905447	hsa-miR-4534	CLIP-seq
MIRT905448	hsa-miR-4651	CLIP-seq
MIRT905449	hsa-miR-4664-5p	CLIP-seq
MIRT905450	hsa-miR-4793-5p	CLIP-seq
MIRT905451	hsa-miR-4802-5p	CLIP-seq
MIRT905452	hsa-miR-491-5p	CLIP-seq
MIRT905453	hsa-miR-608	CLIP-seq
MIRT905454	hsa-miR-651	CLIP-seq
MIRT905455	hsa-miR-765	CLIP-seq
MIRT905435	hsa-miR-1225-5p	CLIP-seq
MIRT905436	hsa-miR-1343	CLIP-seq
MIRT905438	hsa-miR-224	CLIP-seq
MIRT905440	hsa-miR-342-5p	CLIP-seq
MIRT905442	hsa-miR-433	CLIP-seq
MIRT905444	hsa-miR-4450	CLIP-seq
MIRT905446	hsa-miR-4524	CLIP-seq
MIRT905448	hsa-miR-4651	CLIP-seq
MIRT905449	hsa-miR-4664-5p	CLIP-seq
MIRT905452	hsa-miR-491-5p	CLIP-seq
MIRT905453	hsa-miR-608	CLIP-seq
MIRT905454	hsa-miR-651	CLIP-seq
MIRT905436	hsa-miR-1343	CLIP-seq
MIRT905438	hsa-miR-224	CLIP-seq
MIRT905442	hsa-miR-433	CLIP-seq
MIRT905446	hsa-miR-4524	CLIP-seq
MIRT905454	hsa-miR-651	CLIP-seq
MIRT905438	hsa-miR-224	CLIP-seq
MIRT905442	hsa-miR-433	CLIP-seq
MIRT905446	hsa-miR-4524	CLIP-seq
MIRT2507889	hsa-miR-4676-5p	CLIP-seq
MIRT2507890	hsa-miR-575	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004129	Function	Cytochrome-c oxidase activity	NAS	2172092
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IBA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006119	Process	Oxidative phosphorylation	IEA
GO:0006123	Process	Mitochondrial electron transport, cytochrome c to oxygen	NAS	30030519
GO:0016020	Component	Membrane	IEA
GO:0021762	Process	Substantia nigra development	HEP	22926577
GO:0031966	Component	Mitochondrial membrane	IDA	30030519
GO:0045277	Component	Respiratory chain complex IV	IBA
GO:0045277	Component	Respiratory chain complex IV	IEA
GO:0045333	Process	Cellular respiration	NAS	30030519
GO:1902600	Process	Proton transmembrane transport	IEA

Other IDs

• MIM: 124089
• HGNC: 2280
• e!Ensembl: ENSG00000126267

Protein

• UniProt ID: P14854
• Protein name: Cytochrome c oxidase subunit 6B1 (Cytochrome c oxidase subunit VIb isoform 1) (COX VIb-1)
• Protein function: Component of the cytochrome c oxidase, the last enzyme in the mitochondrial electron transport chain which drives oxidative phosphorylation. The respiratory chain contains 3 multisubunit complexes succinate dehydrogenase (complex II, CII), ubiqu
• PDB: 5Z62
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02297	COX6B	19 → 83	Cytochrome oxidase c subunit VIb	Domain

• Sequence:

  MAEDMETKIKNYKTAPFDSRFPNQNQTRNCWQNYLDFHRCQKAMTAKGGDISVCEWYQRV
  YQSLCPTSWVTDWDEQRAEGTFPGKI

• Sequence length: 86

Pathways

KEGG:

Oxidative phosphorylation
Metabolic pathways
Cardiac muscle contraction
Thermogenesis
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy

Reactome:

TP53 Regulates Metabolic Genes
Respiratory electron transport

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
Mitochondrial complex IV deficiency, nuclear type 1	Likely pathogenic	rs778740017, rs121909602	RCV000201789 RCV000018371	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex IV deficiency, nuclear type 7	Likely pathogenic	rs121909602	RCV005025068	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
COX6B1-related disorder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYTOCHROME-C OXIDASE DEFICIENCY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYTOCHROME-C OXIDASE DEFICIENCY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Fanconi syndrome	Fanconi syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	24781756		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	24781756	Associate	★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22545919	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31280487		★☆☆☆☆ Found in Text Mining only
Cytochrome c Oxidase Deficiency	Cytochrome c oxidase deficiency	Pubtator	24781756	Associate	★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	UNIPROT_DG	18499082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	ORPHANET_DG	18499082, 24781756		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	24781756	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	24781756		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	24781756	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isolated cytochrome C oxidase deficiency	Isolated Cytochrome C Oxidase Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	22545919	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	26669719	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	Pubtator	18499082, 24781756	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Phosphate Diabetes	Phosphate Diabetes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33194991	Associate	★☆☆☆☆ Found in Text Mining only