PsyMuKB

Visualization of regulatory element with DNMs in transcripts

Visualization of de novo variants in transcripts

Visualization of original de novo CNV set

There is no corresponding data published yet, we will update it when such data available.

Transcripts

Transcript ID	Transcript exon region	Coding exon region
ENST00000446573	[[78469615, 78470693], [78473993, 78474102], [78474655, 78474789], [78475192, 78475342], [78477290, 78477495], [78477629, 78477742], [78492225, 78492966]]	[[78470576, 78470693], [78473993, 78474102], [78474655, 78474789], [78475192, 78475342], [78477290, 78477495], [78477629, 78477742], [78492225, 78492708]]
ENST00000377211	[[78469615, 78472469], [78473993, 78474102], [78474655, 78474789], [78475192, 78475342], [78477290, 78477495], [78477629, 78477742], [78492225, 78492759], [78493531, 78493903]]	[[78472334, 78472469], [78473993, 78474102], [78474655, 78474789], [78475192, 78475342], [78477290, 78477495], [78477629, 78477742], [78492225, 78492759], [78493531, 78493750]]
ENST00000334286	[[78469623, 78472469], [78473993, 78474102], [78474655, 78474789], [78475192, 78475342], [78477290, 78477495], [78477629, 78477742], [78492225, 78492945]]	[[78472334, 78472469], [78473993, 78474102], [78474655, 78474789], [78475192, 78475342], [78477290, 78477495], [78477629, 78477742], [78492225, 78492708]]
ENST00000475537	[[78492473, 78492759], [78493141, 78493498]]	None
NM_000115	[[78469615, 78472469], [78473993, 78474102], [78474655, 78474789], [78475192, 78475342], [78477290, 78477495], [78477629, 78477742], [78492225, 78492759], [78549481, 78549858]]	[[78472334, 78472469], [78473993, 78474102], [78474655, 78474789], [78475192, 78475342], [78477290, 78477495], [78477629, 78477742], [78492225, 78492708]]
NM_001122659	[[78469615, 78472469], [78473993, 78474102], [78474655, 78474789], [78475192, 78475342], [78477290, 78477495], [78477629, 78477742], [78492225, 78492966]]	[[78472334, 78472469], [78473993, 78474102], [78474655, 78474789], [78475192, 78475342], [78477290, 78477495], [78477629, 78477742], [78492225, 78492708]]
NM_003991	[[78469615, 78470693], [78473993, 78474102], [78474655, 78474789], [78475192, 78475342], [78477290, 78477495], [78477629, 78477742], [78492225, 78492966]]	[[78470576, 78470693], [78473993, 78474102], [78474655, 78474789], [78475192, 78475342], [78477290, 78477495], [78477629, 78477742], [78492225, 78492708]]
NM_001201397	[[78469615, 78472469], [78473993, 78474102], [78474655, 78474789], [78475192, 78475342], [78477290, 78477495], [78477629, 78477742], [78492225, 78492759], [78493531, 78493903]]	[[78472334, 78472469], [78473993, 78474102], [78474655, 78474789], [78475192, 78475342], [78477290, 78477495], [78477629, 78477742], [78492225, 78492759], [78493531, 78493750]]

Promoter

Chrom	Start	End	Description
chr13	78492522	78492536	CAGE_peak_9_at_EDNRB_5end
chr13	78492927	78492943	CAGE_peak_2_at_EDNRB_5end
chr13	78492955	78492973	CAGE_peak_1_at_EDNRB_5end
chr13	78493559	78493593	CAGE_peak_4_at_EDNRB_5end
chr13	78493594	78493623	CAGE_peak_5_at_EDNRB_5end
chr13	78493657	78493668	CAGE_peak_8_at_EDNRB_5end
chr13	78493676	78493690	CAGE_peak_7_at_EDNRB_5end
chr13	78493703	78493726	CAGE_peak_3_at_EDNRB_5end
chr13	78549607	78549618	CAGE_peak_14_at_EDNRB_5end
chr13	78549648	78549669	CAGE_peak_6_at_EDNRB_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I078129	78129081	78134391	0.57	[{'connected_gene': 'POU4F1', 'score': 10.92}, {'connected_gene': 'EDNRB', 'score': 10.8}, {'connected_gene': 'GC13M078137', 'score': 0.44}, {'connected_gene': 'PIR49322', 'score': 0.22}, {'connected_gene': 'RNF219-AS1', 'score': 0.08}]
chr13	GH13I077974	77974879	77977186	0.2	[{'connected_gene': 'EDNRB', 'score': 550.77}, {'connected_gene': 'LINC01069', 'score': 7.01}, {'connected_gene': 'CLN5', 'score': 4.19}, {'connected_gene': 'RNF219-AS1', 'score': 0.22}]
chr13	GH13I077910	77910247	77920538	1.87	[{'connected_gene': 'EDNRB', 'score': 550.21}, {'connected_gene': 'LINC01069', 'score': 6.2}, {'connected_gene': 'RNF219-AS1', 'score': 0.77}, {'connected_gene': 'GC13M077919', 'score': 0.77}, {'connected_gene': 'GC13M077918', 'score': 0.77}, {'connected_gene': 'EDNRB-AS1', 'score': 0.15}]
chr13	GH13I078084	78084150	78086400	0.78	[{'connected_gene': 'EDNRB', 'score': 10.73}, {'connected_gene': 'LINC01069', 'score': 5.6}, {'connected_gene': 'PIR49322', 'score': 0.44}, {'connected_gene': 'GC13M078137', 'score': 0.23}, {'connected_gene': 'RNF219-AS1', 'score': 0.1}]
chr13	GH13I078018	78018916	78020208	0.2	[{'connected_gene': 'EDNRB', 'score': 11.04}, {'connected_gene': 'LINC01069', 'score': 5.81}, {'connected_gene': 'LINC00446', 'score': 0.44}, {'connected_gene': 'PIR49322', 'score': 0.22}, {'connected_gene': 'RNF219-AS1', 'score': 0.15}]
chr13	GH13I078020	78020946	78021200	0.78	[{'connected_gene': 'EDNRB', 'score': 11.03}, {'connected_gene': 'LINC01069', 'score': 5.53}, {'connected_gene': 'LINC00446', 'score': 0.44}, {'connected_gene': 'PIR49322', 'score': 0.23}, {'connected_gene': 'RNF219-AS1', 'score': 0.15}]
chr13	GH13I078029	78029707	78030769	0.4	[{'connected_gene': 'EDNRB', 'score': 10.37}, {'connected_gene': 'LINC01069', 'score': 6.92}, {'connected_gene': 'LINC00446', 'score': 0.37}, {'connected_gene': 'PIR49322', 'score': 0.25}, {'connected_gene': 'RNF219-AS1', 'score': 0.14}]
chr13	GH13I078045	78045460	78046914	0.2	[{'connected_gene': 'EDNRB', 'score': 10.53}, {'connected_gene': 'LINC01069', 'score': 5.34}, {'connected_gene': 'PIR49322', 'score': 0.31}, {'connected_gene': 'LINC00446', 'score': 0.29}, {'connected_gene': 'RNF219-AS1', 'score': 0.13}]
chr13	GH13I077852	77852800	77855483	0.54	[{'connected_gene': 'EDNRB', 'score': 10.82}, {'connected_gene': 'LINC01069', 'score': 5.59}, {'connected_gene': 'EDNRB-AS1', 'score': 0.28}, {'connected_gene': 'GC13M077919', 'score': 0.2}, {'connected_gene': 'GC13M077918', 'score': 0.2}]
chr13	GH13I077859	77859103	77861400	0.93	[{'connected_gene': 'EDNRB', 'score': 11.04}, {'connected_gene': 'LINC01069', 'score': 5.6}, {'connected_gene': 'EDNRB-AS1', 'score': 0.26}, {'connected_gene': 'GC13M077919', 'score': 0.22}, {'connected_gene': 'GC13M077918', 'score': 0.22}]
chr13	GH13I078121	78121606	78121755	0.77	[{'connected_gene': 'EDNRB', 'score': 10.7}, {'connected_gene': 'GC13M078137', 'score': 0.37}, {'connected_gene': 'PIR49322', 'score': 0.25}, {'connected_gene': 'RNF219-AS1', 'score': 0.08}]
chr13	GH13I078102	78102006	78103515	0.96	[{'connected_gene': 'EDNRB', 'score': 10.66}, {'connected_gene': 'PIR49322', 'score': 0.31}, {'connected_gene': 'GC13M078137', 'score': 0.29}, {'connected_gene': 'RNF219-AS1', 'score': 0.09}]
chr13	GH13I078103	78103634	78104199	0.4	[{'connected_gene': 'EDNRB', 'score': 10.54}, {'connected_gene': 'PIR49322', 'score': 0.31}, {'connected_gene': 'GC13M078137', 'score': 0.29}, {'connected_gene': 'RNF219-AS1', 'score': 0.09}]
chr13	GH13I078026	78026697	78027378	0.38	[{'connected_gene': 'EDNRB', 'score': 10.37}, {'connected_gene': 'LINC00446', 'score': 0.39}, {'connected_gene': 'PIR49322', 'score': 0.25}, {'connected_gene': 'RNF219-AS1', 'score': 0.14}]
chr13	GH13I078021	78021582	78023109	1.18	[{'connected_gene': 'EDNRB', 'score': 11.03}, {'connected_gene': 'LINC00446', 'score': 0.44}, {'connected_gene': 'PIR49322', 'score': 0.23}, {'connected_gene': 'RNF219-AS1', 'score': 0.15}]
chr13	GH13I077857	77857568	77858148	0.2	[{'connected_gene': 'EDNRB', 'score': 11.04}, {'connected_gene': 'EDNRB-AS1', 'score': 0.28}, {'connected_gene': 'GC13M077919', 'score': 0.21}, {'connected_gene': 'GC13M077918', 'score': 0.21}]
chr13	GH13I077861	77861626	77861706	0.2	[{'connected_gene': 'EDNRB', 'score': 9.91}, {'connected_gene': 'EDNRB-AS1', 'score': 0.26}, {'connected_gene': 'GC13M077919', 'score': 0.22}, {'connected_gene': 'GC13M077918', 'score': 0.22}]
chr13	GH13I077831	77831993	77834157	1.03	[{'connected_gene': 'EDNRB', 'score': 11.21}, {'connected_gene': 'EDNRB-AS1', 'score': 0.39}, {'connected_gene': 'GC13M077919', 'score': 0.17}, {'connected_gene': 'GC13M077918', 'score': 0.17}]
chr13	GH13I077836	77836002	77837073	0.69	[{'connected_gene': 'EDNRB', 'score': 11.22}, {'connected_gene': 'EDNRB-AS1', 'score': 0.37}, {'connected_gene': 'GC13M077919', 'score': 0.18}, {'connected_gene': 'GC13M077918', 'score': 0.18}]
chr13	GH13I077896	77896089	77899269	0.94	[{'connected_gene': 'EDNRB', 'score': 10.95}, {'connected_gene': 'GC13M077919', 'score': 0.34}, {'connected_gene': 'GC13M077918', 'score': 0.34}, {'connected_gene': 'EDNRB-AS1', 'score': 0.18}]
chr13	GH13I077772	77772848	77773927	0.2	[{'connected_gene': 'EDNRB', 'score': 10.39}, {'connected_gene': 'EDNRB-AS1', 'score': 0.25}, {'connected_gene': 'GC13M077708', 'score': 0.21}]
chr13	GH13I077779	77779566	77780463	0.82	[{'connected_gene': 'EDNRB', 'score': 11.67}, {'connected_gene': 'EDNRB-AS1', 'score': 0.28}, {'connected_gene': 'GC13M077708', 'score': 0.19}]
chr13	GH13I077875	77875887	77876915	0.31	[{'connected_gene': 'EDNRB', 'score': 11.33}, {'connected_gene': 'GC13M077919', 'score': 0.26}, {'connected_gene': 'GC13M077918', 'score': 0.26}, {'connected_gene': 'EDNRB-AS1', 'score': 0.22}]
chr13	GH13I077891	77891201	77891400	0.2	[{'connected_gene': 'EDNRB', 'score': 11.28}, {'connected_gene': 'GC13M077919', 'score': 0.31}, {'connected_gene': 'GC13M077918', 'score': 0.31}, {'connected_gene': 'EDNRB-AS1', 'score': 0.19}]
chr13	GH13I077584	77584189	77584403	0.24	[{'connected_gene': 'SLAIN1', 'score': 25.86}, {'connected_gene': 'SCEL-AS1', 'score': 11.02}, {'connected_gene': 'EDNRB', 'score': 6.0}, {'connected_gene': 'MYCBP2', 'score': 1.43}, {'connected_gene': 'SCEL', 'score': 0.25}]
chr13	GH13I077952	77952717	77953231	0.31	[{'connected_gene': 'RN7SL810P', 'score': 0.44}, {'connected_gene': 'EDNRB', 'score': 0.34}, {'connected_gene': 'RNF219-AS1', 'score': 0.29}]
chr13	GH13I077980	77980332	77981826	0.66	[{'connected_gene': 'LINC01069', 'score': 7.94}, {'connected_gene': 'EDNRB', 'score': 0.44}, {'connected_gene': 'RNF219-AS1', 'score': 0.21}]
chr13	GH13I077906	77906739	77910116	0.38	[{'connected_gene': 'LINC01069', 'score': 13.23}, {'connected_gene': 'GC13M077919', 'score': 0.39}, {'connected_gene': 'GC13M077918', 'score': 0.39}, {'connected_gene': 'EDNRB', 'score': 0.2}, {'connected_gene': 'EDNRB-AS1', 'score': 0.17}]