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
ENST00000367078	[[207262186, 207262291], [207262826, 207262934], [207263652, 207263826], [207264988, 207265165], [207269866, 207269960], [207271494, 207271609], [207273133, 207273338]]	[[207262876, 207262934], [207263652, 207263826], [207264988, 207265165], [207269866, 207269960], [207271494, 207271609], [207273133, 207273274]]
ENST00000492730	[[207262238, 207262291], [207262826, 207262934], [207263652, 207263826], [207264988, 207265217]]	None
ENST00000452902	[[207262557, 207262706], [207262826, 207262934], [207263652, 207263826], [207264988, 207265165], [207269866, 207269960], [207271494, 207271534]]	[[207262876, 207262934], [207263652, 207263826], [207264988, 207265165], [207269866, 207269960], [207271494, 207271534]]
ENST00000243611	[[207262582, 207262934], [207263652, 207263826], [207264988, 207265165], [207269866, 207269960], [207271494, 207271609], [207273133, 207273338]]	[[207262876, 207262934], [207263652, 207263826], [207264988, 207265165], [207269866, 207269960], [207271494, 207271609], [207273133, 207273274]]
ENST00000367076	[[207262583, 207262934], [207263655, 207263826], [207264988, 207265165], [207269866, 207269960], [207271494, 207271609], [207273133, 207273338]]	[[207262876, 207262934], [207263655, 207263826], [207264988, 207265165], [207269866, 207269960], [207271494, 207271609], [207273133, 207273274]]
ENST00000391923	[[207262627, 207262706], [207262826, 207262934], [207263652, 207263826], [207264988, 207265165], [207269866, 207269960], [207271494, 207271609], [207273133, 207273335]]	[[207262876, 207262934], [207263652, 207263826], [207264988, 207265165], [207269866, 207269960], [207271494, 207271609], [207273133, 207273274]]
ENST00000451804	[[207262886, 207262934], [207263655, 207263826], [207264988, 207265165], [207268635, 207269240]]	[[207262903, 207262934], [207263655, 207263826], [207264988, 207265165], [207268635, 207268913]]
ENST00000469326	[[207268278, 207269960], [207271494, 207271609], [207273133, 207273328]]	None
ENST00000470767	[[207271162, 207271609], [207273133, 207273338]]	None
NM_001017366	[[207262186, 207262291], [207262826, 207262934], [207263655, 207263826], [207264988, 207265165], [207269866, 207269960], [207271494, 207271609], [207273133, 207273338]]	[[207262876, 207262934], [207263655, 207263826], [207264988, 207265165], [207269866, 207269960], [207271494, 207271609], [207273133, 207273274]]
NM_001017365	[[207262186, 207262291], [207262826, 207262934], [207263652, 207263826], [207264988, 207265165], [207269866, 207269960], [207271494, 207271609], [207273133, 207273338]]	[[207262876, 207262934], [207263652, 207263826], [207264988, 207265165], [207269866, 207269960], [207271494, 207271609], [207273133, 207273274]]
NM_001017364	[[207262583, 207262934], [207263655, 207263826], [207264988, 207265165], [207269866, 207269960], [207271494, 207271609], [207273133, 207273338]]	[[207262876, 207262934], [207263655, 207263826], [207264988, 207265165], [207269866, 207269960], [207271494, 207271609], [207273133, 207273274]]
NM_000716	[[207262583, 207262934], [207263652, 207263826], [207264988, 207265165], [207269866, 207269960], [207271494, 207271609], [207273133, 207273338]]	[[207262876, 207262934], [207263652, 207263826], [207264988, 207265165], [207269866, 207269960], [207271494, 207271609], [207273133, 207273274]]
NM_001017367	[[207262627, 207262706], [207262826, 207262934], [207263652, 207263826], [207264988, 207265165], [207269866, 207269960], [207271494, 207271609], [207273133, 207273338]]	[[207262876, 207262934], [207263652, 207263826], [207264988, 207265165], [207269866, 207269960], [207271494, 207271609], [207273133, 207273274]]

Promoter

Chrom	Start	End	Description
chr1	207262150	207262161	CAGE_peak_9_at_C4BPB_5end
chr1	207262170	207262212	CAGE_peak_1_at_C4BPB_5end
chr1	207262215	207262226	CAGE_peak_4_at_C4BPB_5end
chr1	207262232	207262254	CAGE_peak_2_at_C4BPB_5end
chr1	207262293	207262306	CAGE_peak_17_at_C4BPB_5end
chr1	207262478	207262493	CAGE_peak_14_at_C4BPB_5end
chr1	207262540	207262551	CAGE_peak_13_at_C4BPB_5end
chr1	207262571	207262574	CAGE_peak_19_at_C4BPB_5end
chr1	207262578	207262597	CAGE_peak_7_at_C4BPB_5end
chr1	207262615	207262626	CAGE_peak_11_at_C4BPB_5end
chr1	207262627	207262632	CAGE_peak_18_at_C4BPB_5end
chr1	207262638	207262666	CAGE_peak_3_at_C4BPB_5end
chr1	207262720	207262753	CAGE_peak_6_at_C4BPB_5end
chr1	207262814	207262825	CAGE_peak_15_at_C4BPB_5end
chr1	207262856	207262880	CAGE_peak_8_at_C4BPB_5end
chr1	207262881	207262901	CAGE_peak_5_at_C4BPB_5end
chr1	207262924	207262935	CAGE_peak_10_at_C4BPB_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I207066	207066279	207068660	0.58	[{'connected_gene': 'C1orf116', 'score': 10.44}, {'connected_gene': 'FCAMR', 'score': 10.36}, {'connected_gene': 'PIGR', 'score': 10.33}, {'connected_gene': 'IL20', 'score': 9.84}, {'connected_gene': 'PFKFB2', 'score': 8.28}, {'connected_gene': 'YOD1', 'score': 0.39}, {'connected_gene': 'C4BPB', 'score': 0.34}]
chr1	GH01I207064	207064091	207065188	0.4	[{'connected_gene': 'C1orf116', 'score': 10.44}, {'connected_gene': 'FCAMR', 'score': 10.37}, {'connected_gene': 'PIGR', 'score': 10.33}, {'connected_gene': 'IL20', 'score': 9.84}, {'connected_gene': 'PFKFB2', 'score': 4.93}, {'connected_gene': 'YOD1', 'score': 0.39}, {'connected_gene': 'C4BPB', 'score': 0.34}]
chr1	GH01I207017	207017474	207035862	2.25	[{'connected_gene': 'C1orf116', 'score': 556.44}, {'connected_gene': 'EIF2D', 'score': 34.52}, {'connected_gene': 'C4BPA', 'score': 20.19}, {'connected_gene': 'CDCA4P4', 'score': 19.45}, {'connected_gene': 'C4BPB', 'score': 15.23}, {'connected_gene': 'FCAMR', 'score': 10.87}, {'connected_gene': 'PIGR', 'score': 10.84}, {'connected_gene': 'FCMR', 'score': 10.81}, {'connected_gene': 'RPL7AP20', 'score': 10.19}, {'connected_gene': 'IL20', 'score': 10.08}, {'connected_gene': 'CD46', 'score': 9.92}, {'connected_gene': 'PFKFB2', 'score': 9.31}, {'connected_gene': 'GC01P207018', 'score': 0.44}]
chr1	GH01I207093	207093482	207095175	0.57	[{'connected_gene': 'C4BPB', 'score': 8.93}, {'connected_gene': 'C4BPA', 'score': 0.44}]
chr1	GH01I207088	207088027	207090936	1.83	[{'connected_gene': 'C4BPB', 'score': 559.74}, {'connected_gene': 'C4BPA', 'score': 0.39}]
chr1	GH01I206808	206808716	206808885	0.64	[{'connected_gene': 'C4BPB', 'score': 4.38}, {'connected_gene': 'IL19', 'score': 0.44}, {'connected_gene': 'LOC105372878', 'score': 0.29}]
chr1	GH01I207001	207001471	207003864	1.07	[{'connected_gene': 'C4BPB', 'score': 5.96}, {'connected_gene': 'TRP-TGG5-1', 'score': 0.77}, {'connected_gene': 'FCAMR', 'score': 0.29}]
chr1	GH01I207103	207103649	207104496	1.34	[{'connected_gene': 'C4BPA', 'score': 596.86}, {'connected_gene': 'C4BPB', 'score': 0.37}]
chr1	GH01I207059	207059401	207060200	0.31	[{'connected_gene': 'YOD1', 'score': 0.44}, {'connected_gene': 'PFKFB2', 'score': 0.31}, {'connected_gene': 'C4BPB', 'score': 0.31}]
chr1	GH01I207004	207004238	207011369	1.39	[{'connected_gene': 'PIGR', 'score': 11.35}, {'connected_gene': 'FCMR', 'score': 11.32}, {'connected_gene': 'FCAMR', 'score': 11.17}, {'connected_gene': 'IL24', 'score': 10.74}, {'connected_gene': 'IL20', 'score': 10.1}, {'connected_gene': 'PFKFB2', 'score': 9.67}, {'connected_gene': 'MAPKAPK2', 'score': 9.62}, {'connected_gene': 'IL19', 'score': 9.57}, {'connected_gene': 'C4BPB', 'score': 6.21}, {'connected_gene': 'TRP-TGG5-1', 'score': 0.77}, {'connected_gene': 'GC01P207018', 'score': 0.39}]
chr1	GH01I207070	207070401	207072137	0.4	[{'connected_gene': 'PFKFB2', 'score': 27.06}, {'connected_gene': 'C1orf116', 'score': 10.88}, {'connected_gene': 'FCAMR', 'score': 10.35}, {'connected_gene': 'PIGR', 'score': 10.33}, {'connected_gene': 'C4BPA', 'score': 10.23}, {'connected_gene': 'IL20', 'score': 9.83}, {'connected_gene': 'YOD1', 'score': 0.37}, {'connected_gene': 'C4BPB', 'score': 0.37}]
chr1	GH01I207073	207073318	207074949	0.38	[{'connected_gene': 'PFKFB2', 'score': 27.99}, {'connected_gene': 'YOD1', 'score': 12.78}, {'connected_gene': 'C1orf116', 'score': 10.66}, {'connected_gene': 'C4BPB', 'score': 0.39}]
chr1	GH01I207077	207077800	207078201	1.27	[{'connected_gene': 'PFKFB2', 'score': 25.82}, {'connected_gene': 'CR1', 'score': 10.7}, {'connected_gene': 'C4BPA', 'score': 10.58}, {'connected_gene': 'FCAMR', 'score': 10.38}, {'connected_gene': 'PIGR', 'score': 10.36}, {'connected_gene': 'C4BPB', 'score': 0.39}, {'connected_gene': 'YOD1', 'score': 0.34}]
chr1	GH01I206768	206768648	206773200	2.02	[{'connected_gene': 'IL10', 'score': 556.83}, {'connected_gene': 'ENSG00000284486', 'score': 550.77}, {'connected_gene': 'IL19', 'score': 11.73}, {'connected_gene': 'MAPKAPK2', 'score': 11.69}, {'connected_gene': 'IL24', 'score': 10.06}, {'connected_gene': 'IL20', 'score': 10.0}, {'connected_gene': 'C4BPB', 'score': 4.39}, {'connected_gene': 'RASSF5', 'score': 1.58}]
chr1	GH01I206765	206765896	206767000	1.31	[{'connected_gene': 'IL19', 'score': 11.47}, {'connected_gene': 'IL24', 'score': 10.31}, {'connected_gene': 'PIGR', 'score': 10.2}, {'connected_gene': 'FCAMR', 'score': 10.11}, {'connected_gene': 'IL20', 'score': 9.82}, {'connected_gene': 'C4BPB', 'score': 4.23}, {'connected_gene': 'GC01M206760', 'score': 0.77}, {'connected_gene': 'ENSG00000284486', 'score': 0.77}]
chr1	GH01I207405	207405036	207405185	0.78	[{'connected_gene': 'CR2', 'score': 11.75}, {'connected_gene': 'CR1', 'score': 11.51}, {'connected_gene': 'C4BPB', 'score': 11.39}, {'connected_gene': 'CD55', 'score': 11.01}, {'connected_gene': 'C4BPA', 'score': 9.72}, {'connected_gene': 'ENSG00000283044', 'score': 0.39}, {'connected_gene': 'ENSG00000274245', 'score': 0.29}]
chr1	GH01I207084	207084296	207085445	1.33	[{'connected_gene': 'CR1', 'score': 11.31}, {'connected_gene': 'PFKFB2', 'score': 10.55}, {'connected_gene': 'C4BPB', 'score': 0.77}, {'connected_gene': 'YOD1', 'score': 0.29}]
chr1	GH01I207407	207407601	207408309	1.03	[{'connected_gene': 'CR1', 'score': 20.68}, {'connected_gene': 'CD55', 'score': 13.79}, {'connected_gene': 'CR2', 'score': 11.75}, {'connected_gene': 'C4BPB', 'score': 11.39}, {'connected_gene': 'C4BPA', 'score': 10.0}, {'connected_gene': 'CD46', 'score': 3.49}, {'connected_gene': 'YOD1', 'score': 1.63}, {'connected_gene': 'ENSG00000283044', 'score': 0.44}, {'connected_gene': 'ENSG00000274245', 'score': 0.28}]