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
ENST00000366607	[[235272650, 235275423], [235277082, 235277225], [235283132, 235283214], [235285640, 235285687], [235291909, 235292251]]	[[235275378, 235275423], [235277082, 235277225], [235283132, 235283214], [235285640, 235285687], [235291909, 235292030]]
ENST00000467767	[[235275339, 235275423], [235277082, 235277225], [235282653, 235282721], [235283132, 235283214]]	None
ENST00000473132	[[235275417, 235275423], [235277082, 235277225], [235283132, 235283214], [235285640, 235285774]]	None
NM_014765	[[235272655, 235275423], [235277082, 235277225], [235283132, 235283214], [235285640, 235285687], [235291909, 235292256]]	[[235275378, 235275423], [235277082, 235277225], [235283132, 235283214], [235285640, 235285687], [235291909, 235292030]]

Promoter

Chrom	Start	End	Description
chr1	235292114	235292129	CAGE_peak_2_at_TOMM20_5end
chr1	235292137	235292170	CAGE_peak_1_at_TOMM20_5end
chr1	235292180	235292191	CAGE_peak_3_at_TOMM20_5end
chr1	235292221	235292237	CAGE_peak_4_at_TOMM20_5end
chr1	235292250	235292261	CAGE_peak_5_at_TOMM20_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I235126	235126709	235131259	2.12	[{'connected_gene': 'TOMM20', 'score': 556.05}, {'connected_gene': 'LOC105379283', 'score': 550.77}, {'connected_gene': 'GC01M235128', 'score': 550.77}, {'connected_gene': 'SNORA14B', 'score': 550.77}, {'connected_gene': 'GC01M235129', 'score': 550.77}, {'connected_gene': 'ARID4B', 'score': 62.06}, {'connected_gene': 'RPS21P1', 'score': 35.37}, {'connected_gene': 'IRF2BP2', 'score': 21.3}, {'connected_gene': 'LDHAP2', 'score': 19.23}, {'connected_gene': 'GGPS1', 'score': 17.91}, {'connected_gene': 'LYST', 'score': 9.99}, {'connected_gene': 'TBCE', 'score': 9.83}, {'connected_gene': 'TARBP1', 'score': 9.78}, {'connected_gene': 'RBM34', 'score': 9.49}, {'connected_gene': 'GC01P235131', 'score': 0.77}]
chr1	GH01I234822	234822578	234824324	0.51	[{'connected_gene': 'TOMM20', 'score': 5.47}, {'connected_gene': 'RNY4P16', 'score': 0.39}, {'connected_gene': 'PIR47455', 'score': 0.23}]
chr1	GH01I234815	234814812	234818604	1.18	[{'connected_gene': 'TOMM20', 'score': 5.14}, {'connected_gene': 'RNY4P16', 'score': 0.34}, {'connected_gene': 'PIR47455', 'score': 0.25}]
chr1	GH01I234824	234824547	234828059	0.38	[{'connected_gene': 'TOMM20', 'score': 5.51}, {'connected_gene': 'RNY4P16', 'score': 0.39}, {'connected_gene': 'PIR47455', 'score': 0.22}]
chr1	GH01I235321	235321824	235323511	0.43	[{'connected_gene': 'GGPS1', 'score': 15.7}, {'connected_gene': 'ARID4B', 'score': 10.32}, {'connected_gene': 'B3GALNT2', 'score': 7.58}, {'connected_gene': 'ENSG00000227962', 'score': 5.61}, {'connected_gene': 'TOMM20', 'score': 4.45}, {'connected_gene': 'GC01M235309', 'score': 0.39}]
chr1	GH01I235207	235207306	235207455	0.56	[{'connected_gene': 'SNORA14B', 'score': 11.69}, {'connected_gene': 'TOMM20', 'score': 11.69}, {'connected_gene': 'GGPS1', 'score': 11.51}, {'connected_gene': 'ARID4B', 'score': 11.51}, {'connected_gene': 'MIR4753', 'score': 0.37}, {'connected_gene': 'GC01P235225', 'score': 0.37}]
chr1	GH01I235101	235100226	235100395	0.72	[{'connected_gene': 'SNORA14B', 'score': 12.22}, {'connected_gene': 'TOMM20', 'score': 12.22}, {'connected_gene': 'GGPS1', 'score': 6.91}, {'connected_gene': 'ENSG00000233018', 'score': 0.77}, {'connected_gene': 'ENSG00000273416', 'score': 0.77}]
chr1	GH01I235199	235199309	235200209	0.46	[{'connected_gene': 'SNORA14B', 'score': 11.36}, {'connected_gene': 'TOMM20', 'score': 11.36}, {'connected_gene': 'ARID4B', 'score': 9.72}, {'connected_gene': 'MIR4753', 'score': 0.44}, {'connected_gene': 'GC01P235225', 'score': 0.31}]
chr1	GH01I235100	235100485	235100722	0.75	[{'connected_gene': 'SNORA14B', 'score': 12.22}, {'connected_gene': 'TOMM20', 'score': 12.22}, {'connected_gene': 'ENSG00000233018', 'score': 0.77}, {'connected_gene': 'ENSG00000273416', 'score': 0.77}]
chr1	GH01I235259	235259197	235259927	0.72	[{'connected_gene': 'ARID4B', 'score': 11.83}, {'connected_gene': 'GGPS1', 'score': 11.83}, {'connected_gene': 'SNORA14B', 'score': 10.2}, {'connected_gene': 'TOMM20', 'score': 10.2}, {'connected_gene': 'GC01P235225', 'score': 0.29}, {'connected_gene': 'RPL23AP23', 'score': 0.28}]
chr1	GH01I235072	235072202	235085478	1.77	[{'connected_gene': 'ARID4B', 'score': 17.77}, {'connected_gene': 'TBCE', 'score': 13.78}, {'connected_gene': 'TOMM20', 'score': 5.1}, {'connected_gene': 'GGPS1', 'score': 5.06}, {'connected_gene': 'IRF2BP2', 'score': 2.51}, {'connected_gene': 'LINC01348', 'score': 0.77}, {'connected_gene': 'ENSG00000233018', 'score': 0.37}]
chr1	GH01I235206	235206866	235207015	0.74	[{'connected_gene': 'ARID4B', 'score': 26.22}, {'connected_gene': 'SNORA14B', 'score': 11.69}, {'connected_gene': 'TOMM20', 'score': 11.69}, {'connected_gene': 'GGPS1', 'score': 11.51}, {'connected_gene': 'RPS21P1', 'score': 10.58}, {'connected_gene': 'MIR4753', 'score': 0.37}, {'connected_gene': 'GC01P235225', 'score': 0.37}]
chr1	GH01I235442	235442322	235443809	1.02	[{'connected_gene': 'ARID4B', 'score': 13.68}, {'connected_gene': 'RPS21P1', 'score': 12.75}, {'connected_gene': 'TOMM20', 'score': 10.46}, {'connected_gene': 'SNORA14B', 'score': 10.46}, {'connected_gene': 'TBCE', 'score': 8.26}, {'connected_gene': 'GC01M235462', 'score': 0.29}, {'connected_gene': 'B3GALNT2', 'score': 0.21}]
chr1	GH01I234780	234780926	234781003	0.68	[{'connected_gene': 'ARID4B', 'score': 34.53}, {'connected_gene': 'RPS21P1', 'score': 14.35}, {'connected_gene': 'GGPS1', 'score': 13.25}, {'connected_gene': 'LDHAP2', 'score': 11.2}, {'connected_gene': 'GNG4', 'score': 10.97}, {'connected_gene': 'IRF2BP2', 'score': 10.79}, {'connected_gene': 'TOMM20', 'score': 9.74}, {'connected_gene': 'PIR47455', 'score': 0.44}, {'connected_gene': 'RNY4P16', 'score': 0.22}]
chr1	GH01I234781	234781086	234781739	0.85	[{'connected_gene': 'ARID4B', 'score': 25.52}, {'connected_gene': 'RPS21P1', 'score': 23.1}, {'connected_gene': 'LDHAP2', 'score': 11.2}, {'connected_gene': 'LOC101927765', 'score': 11.09}, {'connected_gene': 'GNG4', 'score': 10.97}, {'connected_gene': 'IRF2BP2', 'score': 10.79}, {'connected_gene': 'TOMM20', 'score': 9.74}, {'connected_gene': 'PIR47455', 'score': 0.39}, {'connected_gene': 'RNY4P16', 'score': 0.22}]
chr1	GH01I235090	235090026	235091523	1.31	[{'connected_gene': 'IRF2BP2', 'score': 22.6}, {'connected_gene': 'TOMM20', 'score': 16.94}, {'connected_gene': 'RPS21P1', 'score': 14.38}, {'connected_gene': 'ARID4B', 'score': 12.64}, {'connected_gene': 'ENSG00000228830', 'score': 11.9}, {'connected_gene': 'SNORA14B', 'score': 11.55}, {'connected_gene': 'TARBP1', 'score': 11.31}, {'connected_gene': 'LDHAP2', 'score': 11.21}, {'connected_gene': 'ENSG00000212144', 'score': 10.85}, {'connected_gene': 'GGPS1', 'score': 5.4}, {'connected_gene': 'ENSG00000233018', 'score': 0.44}, {'connected_gene': 'LINC01348', 'score': 0.37}]
chr1	GH01I235916	235916151	235924799	1.75	[{'connected_gene': 'LYST', 'score': 25.51}, {'connected_gene': 'ARID4B', 'score': 13.99}, {'connected_gene': 'RNU5E-2P', 'score': 11.36}, {'connected_gene': 'TBCE', 'score': 9.8}, {'connected_gene': 'ENSG00000229291', 'score': 5.07}, {'connected_gene': 'TOMM20', 'score': 5.01}, {'connected_gene': 'GPR137B', 'score': 2.88}, {'connected_gene': 'EDARADD', 'score': 2.65}, {'connected_gene': 'RNU6-968P', 'score': 0.44}, {'connected_gene': 'ENSG00000237845', 'score': 0.34}, {'connected_gene': 'LOC105373215', 'score': 0.31}, {'connected_gene': 'LOC105373212', 'score': 0.23}]
chr1	GH01I235295	235295601	235298388	1.66	[{'connected_gene': 'RPL23AP23', 'score': 550.77}, {'connected_gene': 'ARID4B', 'score': 31.55}, {'connected_gene': 'RPS21P1', 'score': 15.02}, {'connected_gene': 'GGPS1', 'score': 15.01}, {'connected_gene': 'TOMM20', 'score': 4.48}, {'connected_gene': 'RBM34', 'score': 3.23}, {'connected_gene': 'GC01M235309', 'score': 0.39}]
chr1	GH01I234486	234486922	234487800	1.27	[{'connected_gene': 'ENSG00000212144', 'score': 10.63}, {'connected_gene': 'SNORA14B', 'score': 10.04}, {'connected_gene': 'TOMM20', 'score': 10.04}, {'connected_gene': 'TARBP1', 'score': 0.44}, {'connected_gene': 'GC01P234531', 'score': 0.26}]
chr1	GH01I235104	235103086	235103195	0.31	[{'connected_gene': 'ENSG00000273416', 'score': 550.77}, {'connected_gene': 'SNORA14B', 'score': 12.24}, {'connected_gene': 'TOMM20', 'score': 12.22}, {'connected_gene': 'ENSG00000233018', 'score': 0.44}]
chr1	GH01I235103	235103806	235105906	1.77	[{'connected_gene': 'ENSG00000273416', 'score': 550.77}, {'connected_gene': 'SNORA14B', 'score': 12.24}, {'connected_gene': 'TOMM20', 'score': 12.24}, {'connected_gene': 'GC01P235107', 'score': 0.77}]
chr1	GH01I234968	234968350	234989683	2.19	[{'connected_gene': 'ENSG00000258082', 'score': 550.77}, {'connected_gene': 'ARID4B', 'score': 138.49}, {'connected_gene': 'RPS21P1', 'score': 66.27}, {'connected_gene': 'GGPS1', 'score': 59.11}, {'connected_gene': 'IRF2BP2', 'score': 55.22}, {'connected_gene': 'TBCE', 'score': 48.93}, {'connected_gene': 'LDHAP2', 'score': 19.49}, {'connected_gene': 'LOC101927851', 'score': 17.55}, {'connected_gene': 'TARBP1', 'score': 13.97}, {'connected_gene': 'ENSG00000228830', 'score': 12.2}, {'connected_gene': 'LINC01354', 'score': 11.15}, {'connected_gene': 'GNG4', 'score': 10.98}, {'connected_gene': 'TOMM20', 'score': 9.8}, {'connected_gene': 'RBM34', 'score': 2.08}]
chr1	GH01I235092	235092893	235094315	1.08	[{'connected_gene': 'ENSG00000228830', 'score': 11.9}, {'connected_gene': 'IRF2BP2', 'score': 11.9}, {'connected_gene': 'SNORA14B', 'score': 11.57}, {'connected_gene': 'TOMM20', 'score': 11.55}, {'connected_gene': 'TARBP1', 'score': 11.31}, {'connected_gene': 'ENSG00000212144', 'score': 10.83}, {'connected_gene': 'ENSG00000233018', 'score': 0.77}, {'connected_gene': 'LINC01348', 'score': 0.37}]