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
ENST00000025301	[[42846288, 42846364], [42860121, 42860171], [42860435, 42860535], [42866520, 42866637], [42869830, 42869878], [42871183, 42871318], [42872668, 42872933], [42873498, 42877999], [42882589, 42882745], [42887182, 42887266], [42888029, 42888076], [42891663, 42891824], [42893223, 42897396]]	[[42860484, 42860535], [42866520, 42866637], [42869830, 42869878], [42871183, 42871318], [42872668, 42872933], [42873498, 42877999], [42882589, 42882745], [42887182, 42887266], [42888029, 42888076], [42891663, 42891824], [42893223, 42893364]]
NM_016248	[[42846288, 42846364], [42860121, 42860171], [42860435, 42860535], [42866520, 42866637], [42869830, 42869878], [42871183, 42871318], [42872668, 42872933], [42873498, 42877999], [42882589, 42882745], [42887182, 42887266], [42888029, 42888076], [42891663, 42891824], [42893223, 42897403]]	[[42860484, 42860535], [42866520, 42866637], [42869830, 42869878], [42871183, 42871318], [42872668, 42872933], [42873498, 42877999], [42882589, 42882745], [42887182, 42887266], [42888029, 42888076], [42891663, 42891824], [42893223, 42893364]]

Promoter

Chrom	Start	End	Description
chr13	42845605	42845654	CAGE_peak_3_at_AKAP11_5end
chr13	42846123	42846148	CAGE_peak_4_at_AKAP11_5end
chr13	42846149	42846213	CAGE_peak_2_at_AKAP11_5end
chr13	42846272	42846334	CAGE_peak_1_at_AKAP11_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I042396	42396489	42396774	0.85	[{'connected_gene': 'TNFSF11', 'score': 9.19}, {'connected_gene': 'DGKH', 'score': 2.62}, {'connected_gene': 'AKAP11', 'score': 2.49}, {'connected_gene': 'GC13M042401', 'score': 0.44}, {'connected_gene': 'FABP3P2', 'score': 0.31}, {'connected_gene': 'LINC02341', 'score': 0.22}]
chr13	GH13I042377	42377227	42379296	1.02	[{'connected_gene': 'TNFSF11', 'score': 9.97}, {'connected_gene': 'AKAP11', 'score': 4.77}, {'connected_gene': 'FABP3P2', 'score': 0.44}, {'connected_gene': 'GC13M042401', 'score': 0.34}, {'connected_gene': 'LINC02341', 'score': 0.28}]
chr13	GH13I042391	42391750	42396200	1.39	[{'connected_gene': 'TNFSF11', 'score': 9.92}, {'connected_gene': 'AKAP11', 'score': 6.29}, {'connected_gene': 'DGKH', 'score': 2.02}, {'connected_gene': 'GC13M042401', 'score': 0.44}, {'connected_gene': 'FABP3P2', 'score': 0.34}, {'connected_gene': 'LINC02341', 'score': 0.23}]
chr13	GH13I042354	42354097	42356676	1.25	[{'connected_gene': 'TNFSF11', 'score': 16.61}, {'connected_gene': 'AKAP11', 'score': 15.34}, {'connected_gene': 'DGKH', 'score': 1.9}, {'connected_gene': 'VWA8', 'score': 1.24}, {'connected_gene': 'FABP3P2', 'score': 0.39}, {'connected_gene': 'LINC02341', 'score': 0.37}]
chr13	GH13I042597	42597345	42597364	0.22	[{'connected_gene': 'TNFSF11', 'score': 2.26}, {'connected_gene': 'AKAP11', 'score': 1.29}, {'connected_gene': 'DGKH', 'score': 1.27}, {'connected_gene': 'GC13P042584', 'score': 0.39}, {'connected_gene': 'GC13M042780', 'score': 0.09}]
chr13	GH13I042524	42524264	42525986	0.94	[{'connected_gene': 'TNFSF11', 'score': 16.93}, {'connected_gene': 'AKAP11', 'score': 6.17}, {'connected_gene': 'DGKH', 'score': 1.43}, {'connected_gene': 'GC13M042451', 'score': 0.21}]
chr13	GH13I042411	42411256	42414720	0.76	[{'connected_gene': 'TNFSF11', 'score': 14.16}, {'connected_gene': 'AKAP11', 'score': 9.07}, {'connected_gene': 'GC13M042417', 'score': 0.44}, {'connected_gene': 'GC13M042401', 'score': 0.39}, {'connected_gene': 'LINC02341', 'score': 0.19}]
chr13	GH13I042405	42405330	42406885	1.23	[{'connected_gene': 'TNFSF11', 'score': 17.63}, {'connected_gene': 'AKAP11', 'score': 3.11}, {'connected_gene': 'GC13M042401', 'score': 0.77}, {'connected_gene': 'GC13M042417', 'score': 0.39}, {'connected_gene': 'LINC02341', 'score': 0.2}]
chr13	GH13I042548	42548023	42550199	1.29	[{'connected_gene': 'TNFSF11', 'score': 6.79}, {'connected_gene': 'AKAP11', 'score': 3.39}, {'connected_gene': 'GC13M042451', 'score': 0.17}]
chr13	GH13I042486	42486124	42488195	0.91	[{'connected_gene': 'TNFSF11', 'score': 6.31}, {'connected_gene': 'AKAP11', 'score': 5.02}, {'connected_gene': 'GC13M042451', 'score': 0.31}]
chr13	GH13I042367	42367941	42368009	0.48	[{'connected_gene': 'FABP3P2', 'score': 550.77}, {'connected_gene': 'AKAP11', 'score': 2.24}, {'connected_gene': 'TNFSF11', 'score': 2.13}, {'connected_gene': 'LINC02341', 'score': 0.31}]
chr13	GH13I041587	41587899	41591597	1.46	[{'connected_gene': 'RGCC', 'score': 17.96}, {'connected_gene': 'AKAP11', 'score': 15.92}, {'connected_gene': 'VWA8', 'score': 4.2}, {'connected_gene': 'DGKH', 'score': 3.6}, {'connected_gene': 'PIR52393', 'score': 0.34}, {'connected_gene': 'GC13M041633', 'score': 0.26}]
chr13	GH13I041959	41959245	41963804	2.03	[{'connected_gene': 'VWA8', 'score': 557.7}, {'connected_gene': 'DGKH', 'score': 11.15}, {'connected_gene': 'ENSG00000231530', 'score': 11.14}, {'connected_gene': 'RNU6-74P', 'score': 10.82}, {'connected_gene': 'AKAP11', 'score': 6.06}, {'connected_gene': 'VWA8-AS1', 'score': 0.44}, {'connected_gene': 'GC13P041978', 'score': 0.37}]
chr13	GH13I042379	42379985	42381354	1.23	[{'connected_gene': 'AKAP11', 'score': 6.49}, {'connected_gene': 'TNFSF11', 'score': 5.27}, {'connected_gene': 'DGKH', 'score': 1.77}, {'connected_gene': 'FABP3P2', 'score': 0.39}, {'connected_gene': 'GC13M042401', 'score': 0.34}, {'connected_gene': 'LINC02341', 'score': 0.26}]
chr13	GH13I042497	42497254	42498448	0.74	[{'connected_gene': 'AKAP11', 'score': 8.08}, {'connected_gene': 'GC13M042451', 'score': 0.28}, {'connected_gene': 'TNFSF11', 'score': 0.21}]
chr13	GH13I042270	42270583	42276969	2.54	[{'connected_gene': 'AKAP11', 'score': 569.51}, {'connected_gene': 'NAA16', 'score': 17.69}, {'connected_gene': 'TNFSF11', 'score': 3.47}, {'connected_gene': 'DGKH', 'score': 1.35}, {'connected_gene': 'GC13M042285', 'score': 0.22}]
chr13	GH13I041604	41604045	41604214	0.67	[{'connected_gene': 'AKAP11', 'score': 15.91}, {'connected_gene': 'GC13M041633', 'score': 0.29}, {'connected_gene': 'PIR52393', 'score': 0.28}, {'connected_gene': 'VWA8', 'score': 0.05}]
chr13	GH13I042169	42169665	42170428	0.2	[{'connected_gene': 'AKAP11', 'score': 6.62}, {'connected_gene': 'GC13M042182', 'score': 0.39}, {'connected_gene': 'GC13M042088', 'score': 0.21}, {'connected_gene': 'DGKH', 'score': 0.12}]
chr13	GH13I042425	42425001	42425200	0.2	[{'connected_gene': 'AKAP11', 'score': 4.83}, {'connected_gene': 'GC13M042417', 'score': 0.44}, {'connected_gene': 'GC13P042441', 'score': 0.37}, {'connected_gene': 'LINC02341', 'score': 0.17}]
chr13	GH13I042216	42216245	42216394	0.59	[{'connected_gene': 'AKAP11', 'score': 7.19}, {'connected_gene': 'GC13P042238', 'score': 0.34}, {'connected_gene': 'CHCHD2P11', 'score': 0.29}, {'connected_gene': 'DGKH', 'score': 0.1}]
chr13	GH13I042266	42266401	42267000	0.4	[{'connected_gene': 'AKAP11', 'score': 0.77}, {'connected_gene': 'FHP1', 'score': 0.39}]
chr13	GH13I042280	42280881	42281104	0.45	[{'connected_gene': 'AKAP11', 'score': 2.62}, {'connected_gene': 'GC13M042285', 'score': 0.23}]
chr13	GH13I042277	42277745	42277894	0.46	[{'connected_gene': 'AKAP11', 'score': 0.44}, {'connected_gene': 'GC13M042285', 'score': 0.22}]
chr13	GH13I042279	42279024	42279600	0.95	[{'connected_gene': 'AKAP11', 'score': 14.99}, {'connected_gene': 'GC13M042285', 'score': 0.23}]
chr13	GH13I042401	42401985	42403594	0.63	[{'connected_gene': 'GC13M042401', 'score': 550.77}, {'connected_gene': 'TNFSF11', 'score': 10.47}, {'connected_gene': 'AKAP11', 'score': 4.42}, {'connected_gene': 'GC13M042417', 'score': 0.37}, {'connected_gene': 'LINC02341', 'score': 0.21}]
chr13	GH13I042333	42333725	42334687	0.63	[{'connected_gene': 'GC13M042285', 'score': 550.77}, {'connected_gene': 'AKAP11', 'score': 16.84}, {'connected_gene': 'LINC02341', 'score': 0.77}]