HCCS (holocytochrome c synthase)

Gene

• Entrez ID: 3052
• Gene name: Holocytochrome c synthase
• Gene symbol: HCCS
• Synonyms (NCBI Gene): CCHL, LSDMCA1, MCOPS7, MLS
• Chromosome: X
• Chromosome location: Xp22.2
• Summary: The protein encoded by this gene is an enzyme that covalently links a heme group to the apoprotein of cytochrome c. Defects in this gene are a cause of microphthalmia syndromic type 7 (MCOPS7). Three transcript variants encoding the same protein have been

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121917888	C>T	Pathogenic	Coding sequence variant, stop gained
rs121917889	C>T	Pathogenic	Coding sequence variant, missense variant
rs144641429	G>A	Conflicting-interpretations-of-pathogenicity, benign	Missense variant, 5 prime UTR variant, coding sequence variant
rs193929392	G>A	Pathogenic	Missense variant, coding sequence variant
rs367601527	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1413276234	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020136	hsa-miR-130b-3p	Sequencing	20371350
MIRT023250	hsa-miR-122-5p	Proteomics	21750653
MIRT025988	hsa-miR-148a-3p	Sequencing	20371350
MIRT027992	hsa-miR-93-5p	Sequencing	20371350
MIRT124918	hsa-miR-4524b-3p	PAR-CLIP	22012620
MIRT229100	hsa-miR-4668-5p	PAR-CLIP	22012620
MIRT530059	hsa-miR-3613-3p	PAR-CLIP	22012620
MIRT025988	hsa-miR-148a-3p	PAR-CLIP	27292025
MIRT124918	hsa-miR-4524b-3p	PAR-CLIP	22012620
MIRT229100	hsa-miR-4668-5p	PAR-CLIP	22012620
MIRT530059	hsa-miR-3613-3p	PAR-CLIP	22012620
MIRT1041692	hsa-miR-1257	CLIP-seq
MIRT1041693	hsa-miR-127-5p	CLIP-seq
MIRT1041694	hsa-miR-136	CLIP-seq
MIRT1041695	hsa-miR-148a	CLIP-seq
MIRT1041696	hsa-miR-148b	CLIP-seq
MIRT1041697	hsa-miR-151-3p	CLIP-seq
MIRT1041698	hsa-miR-152	CLIP-seq
MIRT1041699	hsa-miR-153	CLIP-seq
MIRT1041700	hsa-miR-219-1-3p	CLIP-seq
MIRT1041701	hsa-miR-2276	CLIP-seq
MIRT1041702	hsa-miR-3153	CLIP-seq
MIRT1041703	hsa-miR-3192	CLIP-seq
MIRT1041704	hsa-miR-3611	CLIP-seq
MIRT1041705	hsa-miR-4305	CLIP-seq
MIRT1041706	hsa-miR-4314	CLIP-seq
MIRT1041707	hsa-miR-4463	CLIP-seq
MIRT1041708	hsa-miR-4499	CLIP-seq
MIRT1041709	hsa-miR-455-3p	CLIP-seq
MIRT1041710	hsa-miR-4646-5p	CLIP-seq
MIRT1041711	hsa-miR-4682	CLIP-seq
MIRT1041712	hsa-miR-4708-3p	CLIP-seq
MIRT1041713	hsa-miR-4731-3p	CLIP-seq
MIRT1041714	hsa-miR-4760-3p	CLIP-seq
MIRT1041715	hsa-miR-4801	CLIP-seq
MIRT1041716	hsa-miR-500b	CLIP-seq
MIRT1041717	hsa-miR-515-5p	CLIP-seq
MIRT1041718	hsa-miR-548ah	CLIP-seq
MIRT1041719	hsa-miR-548t	CLIP-seq
MIRT1041720	hsa-miR-571	CLIP-seq
MIRT1041721	hsa-miR-581	CLIP-seq
MIRT1041722	hsa-miR-590-3p	CLIP-seq
MIRT1041723	hsa-miR-105	CLIP-seq
MIRT1041724	hsa-miR-1202	CLIP-seq
MIRT1041725	hsa-miR-1205	CLIP-seq
MIRT1041726	hsa-miR-1245b-3p	CLIP-seq
MIRT1041727	hsa-miR-1252	CLIP-seq
MIRT1041728	hsa-miR-1266	CLIP-seq
MIRT1041693	hsa-miR-127-5p	CLIP-seq
MIRT1041729	hsa-miR-130a	CLIP-seq
MIRT1041730	hsa-miR-130b	CLIP-seq
MIRT1041694	hsa-miR-136	CLIP-seq
MIRT1041731	hsa-miR-143	CLIP-seq
MIRT1041695	hsa-miR-148a	CLIP-seq
MIRT1041696	hsa-miR-148b	CLIP-seq
MIRT1041698	hsa-miR-152	CLIP-seq
MIRT1041699	hsa-miR-153	CLIP-seq
MIRT1041732	hsa-miR-200b	CLIP-seq
MIRT1041733	hsa-miR-200c	CLIP-seq
MIRT1041734	hsa-miR-2110	CLIP-seq
MIRT1041735	hsa-miR-2115	CLIP-seq
MIRT1041736	hsa-miR-217	CLIP-seq
MIRT1041700	hsa-miR-219-1-3p	CLIP-seq
MIRT1041701	hsa-miR-2276	CLIP-seq
MIRT1041737	hsa-miR-299-3p	CLIP-seq
MIRT1041738	hsa-miR-301a	CLIP-seq
MIRT1041739	hsa-miR-301b	CLIP-seq
MIRT1041740	hsa-miR-3119	CLIP-seq
MIRT1041741	hsa-miR-3129-3p	CLIP-seq
MIRT1041742	hsa-miR-3147	CLIP-seq
MIRT1041743	hsa-miR-3150b-3p	CLIP-seq
MIRT1041744	hsa-miR-3151	CLIP-seq
MIRT1041702	hsa-miR-3153	CLIP-seq
MIRT1041745	hsa-miR-3155	CLIP-seq
MIRT1041746	hsa-miR-3155b	CLIP-seq
MIRT1041747	hsa-miR-3187-3p	CLIP-seq
MIRT1041703	hsa-miR-3192	CLIP-seq
MIRT1041748	hsa-miR-3194-5p	CLIP-seq
MIRT1041749	hsa-miR-3202	CLIP-seq
MIRT1041704	hsa-miR-3611	CLIP-seq
MIRT1041750	hsa-miR-3612	CLIP-seq
MIRT1041751	hsa-miR-3647-5p	CLIP-seq
MIRT1041752	hsa-miR-3662	CLIP-seq
MIRT1041753	hsa-miR-3664-3p	CLIP-seq
MIRT1041754	hsa-miR-3665	CLIP-seq
MIRT1041755	hsa-miR-3666	CLIP-seq
MIRT1041756	hsa-miR-3689a-3p	CLIP-seq
MIRT1041757	hsa-miR-3689c	CLIP-seq
MIRT1041758	hsa-miR-3942-3p	CLIP-seq
MIRT1041759	hsa-miR-3972	CLIP-seq
MIRT1041760	hsa-miR-4257	CLIP-seq
MIRT1041761	hsa-miR-4259	CLIP-seq
MIRT1041762	hsa-miR-4271	CLIP-seq
MIRT1041763	hsa-miR-429	CLIP-seq
MIRT1041764	hsa-miR-4295	CLIP-seq
MIRT1041765	hsa-miR-4300	CLIP-seq
MIRT1041706	hsa-miR-4314	CLIP-seq
MIRT1041766	hsa-miR-4418	CLIP-seq
MIRT1041767	hsa-miR-4425	CLIP-seq
MIRT1041768	hsa-miR-4435	CLIP-seq
MIRT1041769	hsa-miR-4443	CLIP-seq
MIRT1041770	hsa-miR-4447	CLIP-seq
MIRT1041771	hsa-miR-4468	CLIP-seq
MIRT1041772	hsa-miR-4470	CLIP-seq
MIRT1041773	hsa-miR-4472	CLIP-seq
MIRT1041774	hsa-miR-4476	CLIP-seq
MIRT1041775	hsa-miR-4480	CLIP-seq
MIRT1041776	hsa-miR-450b-3p	CLIP-seq
MIRT1041777	hsa-miR-4518	CLIP-seq
MIRT1041778	hsa-miR-454	CLIP-seq
MIRT1041709	hsa-miR-455-3p	CLIP-seq
MIRT1041710	hsa-miR-4646-5p	CLIP-seq
MIRT1041779	hsa-miR-4667-5p	CLIP-seq
MIRT1041780	hsa-miR-4686	CLIP-seq
MIRT1041781	hsa-miR-4689	CLIP-seq
MIRT1041782	hsa-miR-4700-5p	CLIP-seq
MIRT1041783	hsa-miR-4701-5p	CLIP-seq
MIRT1041712	hsa-miR-4708-3p	CLIP-seq
MIRT1041784	hsa-miR-4725-3p	CLIP-seq
MIRT1041713	hsa-miR-4731-3p	CLIP-seq
MIRT1041785	hsa-miR-4747-5p	CLIP-seq
MIRT1041786	hsa-miR-4770	CLIP-seq
MIRT1041787	hsa-miR-4784	CLIP-seq
MIRT1041715	hsa-miR-4801	CLIP-seq
MIRT1041788	hsa-miR-484	CLIP-seq
MIRT1041789	hsa-miR-488	CLIP-seq
MIRT1041790	hsa-miR-491-5p	CLIP-seq
MIRT1041791	hsa-miR-499-3p	CLIP-seq
MIRT1041792	hsa-miR-499a-3p	CLIP-seq
MIRT1041716	hsa-miR-500b	CLIP-seq
MIRT1041793	hsa-miR-509-3-5p	CLIP-seq
MIRT1041794	hsa-miR-509-5p	CLIP-seq
MIRT1041717	hsa-miR-515-5p	CLIP-seq
MIRT1041795	hsa-miR-516a-3p	CLIP-seq
MIRT1041796	hsa-miR-526b	CLIP-seq
MIRT1041797	hsa-miR-545	CLIP-seq
MIRT1041798	hsa-miR-548a-3p	CLIP-seq
MIRT1041799	hsa-miR-548ae	CLIP-seq
MIRT1041718	hsa-miR-548ah	CLIP-seq
MIRT1041800	hsa-miR-548aj	CLIP-seq
MIRT1041801	hsa-miR-548am	CLIP-seq
MIRT1041802	hsa-miR-548e	CLIP-seq
MIRT1041803	hsa-miR-548f	CLIP-seq
MIRT1041804	hsa-miR-548g	CLIP-seq
MIRT1041805	hsa-miR-548k	CLIP-seq
MIRT1041806	hsa-miR-548m	CLIP-seq
MIRT1041807	hsa-miR-548s	CLIP-seq
MIRT1041719	hsa-miR-548t	CLIP-seq
MIRT1041808	hsa-miR-548x	CLIP-seq
MIRT1041809	hsa-miR-567	CLIP-seq
MIRT1041720	hsa-miR-571	CLIP-seq
MIRT1041721	hsa-miR-581	CLIP-seq
MIRT1041810	hsa-miR-588	CLIP-seq
MIRT1041811	hsa-miR-637	CLIP-seq
MIRT1041812	hsa-miR-649	CLIP-seq
MIRT1041813	hsa-miR-650	CLIP-seq
MIRT1041814	hsa-miR-657	CLIP-seq
MIRT1041815	hsa-miR-769-3p	CLIP-seq
MIRT1041816	hsa-miR-769-5p	CLIP-seq
MIRT1041817	hsa-miR-885-5p	CLIP-seq
MIRT1041818	hsa-miR-891b	CLIP-seq
MIRT1041819	hsa-miR-920	CLIP-seq
MIRT1041723	hsa-miR-105	CLIP-seq
MIRT1041724	hsa-miR-1202	CLIP-seq
MIRT1041727	hsa-miR-1252	CLIP-seq
MIRT1041695	hsa-miR-148a	CLIP-seq
MIRT1041696	hsa-miR-148b	CLIP-seq
MIRT1041698	hsa-miR-152	CLIP-seq
MIRT1041699	hsa-miR-153	CLIP-seq
MIRT2008757	hsa-miR-2053	CLIP-seq
MIRT1041701	hsa-miR-2276	CLIP-seq
MIRT1041743	hsa-miR-3150b-3p	CLIP-seq
MIRT1041748	hsa-miR-3194-5p	CLIP-seq
MIRT1041750	hsa-miR-3612	CLIP-seq
MIRT1041759	hsa-miR-3972	CLIP-seq
MIRT2008758	hsa-miR-3974	CLIP-seq
MIRT1041767	hsa-miR-4425	CLIP-seq
MIRT1041769	hsa-miR-4443	CLIP-seq
MIRT1041775	hsa-miR-4480	CLIP-seq
MIRT1041776	hsa-miR-450b-3p	CLIP-seq
MIRT2008759	hsa-miR-4688	CLIP-seq
MIRT1041781	hsa-miR-4689	CLIP-seq
MIRT1041712	hsa-miR-4708-3p	CLIP-seq
MIRT1041713	hsa-miR-4731-3p	CLIP-seq
MIRT1041787	hsa-miR-4784	CLIP-seq
MIRT1041715	hsa-miR-4801	CLIP-seq
MIRT2008760	hsa-miR-485-5p	CLIP-seq
MIRT2008761	hsa-miR-487a	CLIP-seq
MIRT1041716	hsa-miR-500b	CLIP-seq
MIRT1041797	hsa-miR-545	CLIP-seq
MIRT1041718	hsa-miR-548ah	CLIP-seq
MIRT1041806	hsa-miR-548m	CLIP-seq
MIRT1041719	hsa-miR-548t	CLIP-seq
MIRT1041813	hsa-miR-650	CLIP-seq
MIRT1041815	hsa-miR-769-3p	CLIP-seq
MIRT1041816	hsa-miR-769-5p	CLIP-seq
MIRT1041723	hsa-miR-105	CLIP-seq
MIRT2241180	hsa-miR-1179	CLIP-seq
MIRT1041724	hsa-miR-1202	CLIP-seq
MIRT2241181	hsa-miR-1246	CLIP-seq
MIRT1041727	hsa-miR-1252	CLIP-seq
MIRT1041728	hsa-miR-1266	CLIP-seq
MIRT2241182	hsa-miR-1295	CLIP-seq
MIRT2241183	hsa-miR-1303	CLIP-seq
MIRT1041729	hsa-miR-130a	CLIP-seq
MIRT1041730	hsa-miR-130b	CLIP-seq
MIRT2241184	hsa-miR-141	CLIP-seq
MIRT1041731	hsa-miR-143	CLIP-seq
MIRT1041695	hsa-miR-148a	CLIP-seq
MIRT1041696	hsa-miR-148b	CLIP-seq
MIRT1041698	hsa-miR-152	CLIP-seq
MIRT1041699	hsa-miR-153	CLIP-seq
MIRT2241185	hsa-miR-194	CLIP-seq
MIRT2241186	hsa-miR-200a	CLIP-seq
MIRT1041732	hsa-miR-200b	CLIP-seq
MIRT1041733	hsa-miR-200c	CLIP-seq
MIRT2008757	hsa-miR-2053	CLIP-seq
MIRT1041734	hsa-miR-2110	CLIP-seq
MIRT1041736	hsa-miR-217	CLIP-seq
MIRT1041701	hsa-miR-2276	CLIP-seq
MIRT1041737	hsa-miR-299-3p	CLIP-seq
MIRT1041738	hsa-miR-301a	CLIP-seq
MIRT1041739	hsa-miR-301b	CLIP-seq
MIRT1041740	hsa-miR-3119	CLIP-seq
MIRT2241187	hsa-miR-3120-3p	CLIP-seq
MIRT2241188	hsa-miR-3121-3p	CLIP-seq
MIRT2241189	hsa-miR-3121-5p	CLIP-seq
MIRT1041741	hsa-miR-3129-3p	CLIP-seq
MIRT2241190	hsa-miR-3144-5p	CLIP-seq
MIRT1041742	hsa-miR-3147	CLIP-seq
MIRT1041743	hsa-miR-3150b-3p	CLIP-seq
MIRT1041745	hsa-miR-3155	CLIP-seq
MIRT1041746	hsa-miR-3155b	CLIP-seq
MIRT1041748	hsa-miR-3194-5p	CLIP-seq
MIRT2241191	hsa-miR-33a	CLIP-seq
MIRT2241192	hsa-miR-33b	CLIP-seq
MIRT1041750	hsa-miR-3612	CLIP-seq
MIRT2241193	hsa-miR-3619-3p	CLIP-seq
MIRT1041753	hsa-miR-3664-3p	CLIP-seq
MIRT1041755	hsa-miR-3666	CLIP-seq
MIRT1041756	hsa-miR-3689a-3p	CLIP-seq
MIRT1041757	hsa-miR-3689c	CLIP-seq
MIRT1041758	hsa-miR-3942-3p	CLIP-seq
MIRT1041759	hsa-miR-3972	CLIP-seq
MIRT2008758	hsa-miR-3974	CLIP-seq
MIRT1041760	hsa-miR-4257	CLIP-seq
MIRT1041761	hsa-miR-4259	CLIP-seq
MIRT1041762	hsa-miR-4271	CLIP-seq
MIRT1041763	hsa-miR-429	CLIP-seq
MIRT1041764	hsa-miR-4295	CLIP-seq
MIRT1041765	hsa-miR-4300	CLIP-seq
MIRT2241194	hsa-miR-4310	CLIP-seq
MIRT1041766	hsa-miR-4418	CLIP-seq
MIRT1041767	hsa-miR-4425	CLIP-seq
MIRT1041769	hsa-miR-4443	CLIP-seq
MIRT2241195	hsa-miR-4464	CLIP-seq
MIRT1041771	hsa-miR-4468	CLIP-seq
MIRT1041775	hsa-miR-4480	CLIP-seq
MIRT2241196	hsa-miR-4494	CLIP-seq
MIRT1041776	hsa-miR-450b-3p	CLIP-seq
MIRT1041777	hsa-miR-4518	CLIP-seq
MIRT1041778	hsa-miR-454	CLIP-seq
MIRT1041779	hsa-miR-4667-5p	CLIP-seq
MIRT1041780	hsa-miR-4686	CLIP-seq
MIRT2008759	hsa-miR-4688	CLIP-seq
MIRT1041781	hsa-miR-4689	CLIP-seq
MIRT1041782	hsa-miR-4700-5p	CLIP-seq
MIRT1041712	hsa-miR-4708-3p	CLIP-seq
MIRT2241197	hsa-miR-4716-3p	CLIP-seq
MIRT1041784	hsa-miR-4725-3p	CLIP-seq
MIRT1041713	hsa-miR-4731-3p	CLIP-seq
MIRT2241198	hsa-miR-4735-5p	CLIP-seq
MIRT2241199	hsa-miR-4748	CLIP-seq
MIRT2241200	hsa-miR-4761-5p	CLIP-seq
MIRT1041786	hsa-miR-4770	CLIP-seq
MIRT2241201	hsa-miR-4773	CLIP-seq
MIRT1041787	hsa-miR-4784	CLIP-seq
MIRT1041715	hsa-miR-4801	CLIP-seq
MIRT1041788	hsa-miR-484	CLIP-seq
MIRT2008760	hsa-miR-485-5p	CLIP-seq
MIRT2008761	hsa-miR-487a	CLIP-seq
MIRT2241202	hsa-miR-498	CLIP-seq
MIRT1041791	hsa-miR-499-3p	CLIP-seq
MIRT1041792	hsa-miR-499a-3p	CLIP-seq
MIRT1041716	hsa-miR-500b	CLIP-seq
MIRT1041793	hsa-miR-509-3-5p	CLIP-seq
MIRT1041794	hsa-miR-509-5p	CLIP-seq
MIRT1041797	hsa-miR-545	CLIP-seq
MIRT1041718	hsa-miR-548ah	CLIP-seq
MIRT1041804	hsa-miR-548g	CLIP-seq
MIRT1041806	hsa-miR-548m	CLIP-seq
MIRT1041719	hsa-miR-548t	CLIP-seq
MIRT1041811	hsa-miR-637	CLIP-seq
MIRT1041813	hsa-miR-650	CLIP-seq
MIRT1041815	hsa-miR-769-3p	CLIP-seq
MIRT1041816	hsa-miR-769-5p	CLIP-seq
MIRT2241203	hsa-miR-877	CLIP-seq
MIRT1041819	hsa-miR-920	CLIP-seq
MIRT1041695	hsa-miR-148a	CLIP-seq
MIRT1041696	hsa-miR-148b	CLIP-seq
MIRT1041698	hsa-miR-152	CLIP-seq
MIRT1041699	hsa-miR-153	CLIP-seq
MIRT1041713	hsa-miR-4731-3p	CLIP-seq
MIRT1041715	hsa-miR-4801	CLIP-seq
MIRT1041716	hsa-miR-500b	CLIP-seq
MIRT1041718	hsa-miR-548ah	CLIP-seq
MIRT1041719	hsa-miR-548t	CLIP-seq
MIRT2241180	hsa-miR-1179	CLIP-seq
MIRT1041724	hsa-miR-1202	CLIP-seq
MIRT2241182	hsa-miR-1295	CLIP-seq
MIRT2241184	hsa-miR-141	CLIP-seq
MIRT2241186	hsa-miR-200a	CLIP-seq
MIRT1041734	hsa-miR-2110	CLIP-seq
MIRT1041737	hsa-miR-299-3p	CLIP-seq
MIRT2241187	hsa-miR-3120-3p	CLIP-seq
MIRT1041744	hsa-miR-3151	CLIP-seq
MIRT1041748	hsa-miR-3194-5p	CLIP-seq
MIRT2544766	hsa-miR-3199	CLIP-seq
MIRT1041749	hsa-miR-3202	CLIP-seq
MIRT2544767	hsa-miR-34b	CLIP-seq
MIRT1041750	hsa-miR-3612	CLIP-seq
MIRT1041759	hsa-miR-3972	CLIP-seq
MIRT1041761	hsa-miR-4259	CLIP-seq
MIRT1041762	hsa-miR-4271	CLIP-seq
MIRT2241194	hsa-miR-4310	CLIP-seq
MIRT1041767	hsa-miR-4425	CLIP-seq
MIRT1041769	hsa-miR-4443	CLIP-seq
MIRT1041770	hsa-miR-4447	CLIP-seq
MIRT2241195	hsa-miR-4464	CLIP-seq
MIRT1041772	hsa-miR-4470	CLIP-seq
MIRT1041773	hsa-miR-4472	CLIP-seq
MIRT2241196	hsa-miR-4494	CLIP-seq
MIRT1041776	hsa-miR-450b-3p	CLIP-seq
MIRT1041784	hsa-miR-4725-3p	CLIP-seq
MIRT2241198	hsa-miR-4735-5p	CLIP-seq
MIRT1041785	hsa-miR-4747-5p	CLIP-seq
MIRT2241199	hsa-miR-4748	CLIP-seq
MIRT2544768	hsa-miR-4755-3p	CLIP-seq
MIRT2241200	hsa-miR-4761-5p	CLIP-seq
MIRT2008760	hsa-miR-485-5p	CLIP-seq
MIRT1041790	hsa-miR-491-5p	CLIP-seq
MIRT2241202	hsa-miR-498	CLIP-seq
MIRT1041797	hsa-miR-545	CLIP-seq
MIRT2544769	hsa-miR-561	CLIP-seq
MIRT1041813	hsa-miR-650	CLIP-seq
MIRT1041815	hsa-miR-769-3p	CLIP-seq
MIRT2241180	hsa-miR-1179	CLIP-seq
MIRT1041724	hsa-miR-1202	CLIP-seq
MIRT2241182	hsa-miR-1295	CLIP-seq
MIRT2241184	hsa-miR-141	CLIP-seq
MIRT2241186	hsa-miR-200a	CLIP-seq
MIRT1041734	hsa-miR-2110	CLIP-seq
MIRT1041737	hsa-miR-299-3p	CLIP-seq
MIRT2241187	hsa-miR-3120-3p	CLIP-seq
MIRT1041744	hsa-miR-3151	CLIP-seq
MIRT1041748	hsa-miR-3194-5p	CLIP-seq
MIRT2544766	hsa-miR-3199	CLIP-seq
MIRT1041749	hsa-miR-3202	CLIP-seq
MIRT2544767	hsa-miR-34b	CLIP-seq
MIRT1041750	hsa-miR-3612	CLIP-seq
MIRT1041759	hsa-miR-3972	CLIP-seq
MIRT1041761	hsa-miR-4259	CLIP-seq
MIRT1041762	hsa-miR-4271	CLIP-seq
MIRT2241194	hsa-miR-4310	CLIP-seq
MIRT1041767	hsa-miR-4425	CLIP-seq
MIRT1041769	hsa-miR-4443	CLIP-seq
MIRT1041770	hsa-miR-4447	CLIP-seq
MIRT2241195	hsa-miR-4464	CLIP-seq
MIRT1041772	hsa-miR-4470	CLIP-seq
MIRT1041773	hsa-miR-4472	CLIP-seq
MIRT2241196	hsa-miR-4494	CLIP-seq
MIRT1041776	hsa-miR-450b-3p	CLIP-seq
MIRT1041784	hsa-miR-4725-3p	CLIP-seq
MIRT2241198	hsa-miR-4735-5p	CLIP-seq
MIRT1041785	hsa-miR-4747-5p	CLIP-seq
MIRT2241199	hsa-miR-4748	CLIP-seq
MIRT2544768	hsa-miR-4755-3p	CLIP-seq
MIRT2241200	hsa-miR-4761-5p	CLIP-seq
MIRT2008760	hsa-miR-485-5p	CLIP-seq
MIRT1041790	hsa-miR-491-5p	CLIP-seq
MIRT2682229	hsa-miR-495	CLIP-seq
MIRT2241202	hsa-miR-498	CLIP-seq
MIRT1041795	hsa-miR-516a-3p	CLIP-seq
MIRT1041797	hsa-miR-545	CLIP-seq
MIRT2544769	hsa-miR-561	CLIP-seq
MIRT2682230	hsa-miR-633	CLIP-seq
MIRT1041813	hsa-miR-650	CLIP-seq
MIRT1041815	hsa-miR-769-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004408	Function	Holocytochrome-c synthase activity	IBA
GO:0004408	Function	Holocytochrome-c synthase activity	IDA	23150584
GO:0004408	Function	Holocytochrome-c synthase activity	IEA
GO:0004408	Function	Holocytochrome-c synthase activity	TAS	8661044
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 32814053, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	11827457
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS	8661044
GO:0005829	Component	Cytosol	IEA
GO:0009887	Process	Animal organ morphogenesis	TAS	8661044
GO:0016020	Component	Membrane	IDA	23150584
GO:0016020	Component	Membrane	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0018063	Process	Cytochrome c-heme linkage	IDA	23150584
GO:0020037	Function	Heme binding	IDA	23150584
GO:0022904	Process	Respiratory electron transport chain	TAS
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 300056
• HGNC: 4837
• e!Ensembl: ENSG00000004961

Protein

• UniProt ID: P53701
• Protein name: Holocytochrome c-type synthase (EC 4.4.1.17) (Cytochrome c-type heme lyase)
• Protein function: Lyase that catalyzes the covalent linking of the heme group to the cytochrome C apoprotein to produce the mature functional cytochrome.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01265	Cyto_heme_lyase	3 → 263	Cytochrome c/c1 heme lyase	Family

• Sequence:

  MGLSPSAPAVAVQASNASASPPSGCPMHEGKMKGCPVNTEPSGPTCEKKTYSVPAHQERA
  YEYVECPIRGTAAENKENLDPSNLMPPPNQTPAPDQPFALSTVREESSIPRADSEKKWVY
  PSEQMFWNAMLKKGWKWKDEDISQKDMYNIIRIHNQNNEQAWKEILKWEALHAAECPCGP
  SLIRFGGKAKEYSPRARIRSWMGYELPFDRHDWIINRCGTEVRYVIDYYDGGEVNKDYQF
  TILDVRPALDSLSAVWDRMKVAWWRWTS

• Sequence length: 268

Pathways

KEGG:

Porphyrin metabolism
Metabolic pathways

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
HCCS-related disorder	Likely pathogenic	rs121917889	RCV003398486	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Linear skin defects with multiple congenital anomalies 1	Pathogenic; Likely pathogenic	rs121917888, rs121917889, rs2518472366, rs2045455875	RCV000020631 RCV000020632 RCV003990036 RCV001269290	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
History of neurodevelopmental disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 7	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMOS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta	Amelogenesis imperfecta	Pubtator	35243551	Associate	★☆☆☆☆ Found in Text Mining only
Amelogenesis imperfecta local hypoplastic form	Amelogenesis imperfecta	Pubtator	35243551	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	27282955	Inhibit	★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	Pubtator	39766903	Associate	★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	BEFREE	17893649		★☆☆☆☆ Found in Text Mining only
Anophthalmos	Anophthalmia	Pubtator	39766903	Associate	★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aphakia congenital primary	Congenital primary aphakia	Pubtator	39766903	Associate	★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	18699940		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	25182979	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	25182979		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	25182979	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	26703717		★☆☆☆☆ Found in Text Mining only
Bilateral microphthalmos	Microphthalmos	BEFREE	17893649		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Dilated cardiomyopathy	Pubtator	35893073	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colpocephaly	Colpocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of mandible	Mandibular aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of rectum	Congenital Anomaly Of Rectum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal Diseases	Corneal disease	Pubtator	39766903	Associate	★☆☆☆☆ Found in Text Mining only
Corneal Opacity	Corneal opacity	Pubtator	39766903	Associate	★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental enamel hypoplasia	Pubtator	39766903	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	23239471		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	18559660, 9662410		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	11916952, 17179727, 9285775		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endocarditis	Endocarditis	BEFREE	12522763		★☆☆☆☆ Found in Text Mining only
Epispadias	Epispadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	39766903	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	27909727, 28045549		★☆☆☆☆ Found in Text Mining only
Focal Dermal Hypoplasia	Focal Dermal Hypoplasia	BEFREE	19277062		★☆☆☆☆ Found in Text Mining only
Gillespie syndrome	Gillespie Syndrome	BEFREE	27124303		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	39766903	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	39766903	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	39766903	Associate	★☆☆☆☆ Found in Text Mining only
Histiocytoid Cardiomyopathy	Histiocytoid Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperthyroxinemia, Familial Dysalbuminemic	Hyperthyroxinemia, Dysalbuminemic	BEFREE	19277062		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	27909727		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	39766903	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	11536080		★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	16651630, 27909727		★☆☆☆☆ Found in Text Mining only
Liposarcoma, Myxoid	liposarcoma	BEFREE	20017906, 20515481		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	26703717		★☆☆☆☆ Found in Text Mining only
Male Pseudohermaphroditism	Male Pseudohermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	28045549		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	2715085		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmia syndromic 7	Microphthalmia	Pubtator	23401659, 24735900, 25182979, 30068298, 39766903	Associate	★☆☆☆☆ Found in Text Mining only
Microphthalmia with linear skin defects syndrome	Microphthalmia With Linear Skin Defects Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	BEFREE	11827457, 12444108, 17033964, 17845869, 17893649, 19277062, 21907713, 23239471, 23401659, 24735900, 25772934, 9674913, 9737776		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	UNIPROT_DG	17033964		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	GENOMICS_ENGLAND_DG	17033964, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	ORPHANET_DG	17033964		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	BEFREE	17893649, 23122588, 30068298		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	Pubtator	24735900, 30068298, 39766903	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	12003972		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	12003972		★☆☆☆☆ Found in Text Mining only
Myxoid/Round Cell Liposarcoma	Myxoid Liposarcoma	BEFREE	25393000		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15492825, 15880497, 20515481, 25393000		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	27282955	Associate	★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	2715085		★☆☆☆☆ Found in Text Mining only
Overriding aorta	Overriding aorta	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovotestis	Ovotestis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posterior embryotoxon	Posterior embryotoxon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dysplasia	Retinal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sclerocornea	Sclerocornea	BEFREE	17893649		★☆☆☆☆ Found in Text Mining only
Sclerocornea	Sclerocornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	30068298, 39766903	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	30068298		★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	27909727		★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Insufficiency	Tricuspid Valve Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Prolapse	Tricuspid Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
True Hermaphroditism (disorder)	True Hermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21483740	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	34674573	Associate	★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	15744037		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitritis	Vitritis	HPO_DG			★☆☆☆☆ Found in Text Mining only