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
ENST00000601660	[[42348805, 42349066], [42351492, 42351720], [42351803, 42351949], [42352519, 42352596], [42352822, 42353043], [42353197, 42353324], [42354379, 42356395]]	[[42351496, 42351720], [42351803, 42351949], [42352519, 42352596], [42352822, 42353043], [42353197, 42353204]]
ENST00000600017	[[42349008, 42349066], [42351492, 42351720], [42351803, 42351949], [42352519, 42352596], [42352862, 42352912]]	[[42351496, 42351720], [42351803, 42351949], [42352519, 42352596], [42352862, 42352912]]
ENST00000596827	[[42349082, 42349164], [42351492, 42351720], [42351803, 42351949], [42352519, 42352596], [42352862, 42353043], [42353197, 42353324], [42354379, 42354768], [42355651, 42356096]]	[[42351496, 42351720], [42351803, 42351949], [42352519, 42352596], [42352862, 42353043], [42353197, 42353324], [42354379, 42354768], [42355651, 42355764]]
ENST00000602098	[[42349113, 42349164], [42351492, 42351720], [42351803, 42351949], [42352519, 42352596], [42352822, 42352887]]	None
ENST00000269945	[[42349117, 42349164], [42351492, 42351720], [42351803, 42351949], [42352519, 42352596], [42352862, 42353043], [42353197, 42353324], [42354379, 42354440], [42354593, 42354768], [42355651, 42356401]]	[[42351496, 42351720], [42351803, 42351949], [42352519, 42352596], [42352862, 42353043], [42353197, 42353324], [42354379, 42354440], [42354593, 42354768], [42355651, 42355764]]
ENST00000596258	[[42349152, 42349244], [42349408, 42349464], [42351492, 42351720], [42351803, 42351949], [42352519, 42352553]]	[[42351496, 42351720], [42351803, 42351949], [42352519, 42352553]]
ENST00000596660	[[42349387, 42349464], [42351492, 42351720], [42351803, 42351949], [42352519, 42352596], [42352862, 42352900]]	[[42351496, 42351720], [42351803, 42351949], [42352519, 42352596], [42352862, 42352900]]
ENST00000599022	[[42354311, 42354768], [42355651, 42355716]]	None
NM_001040283	[[42349085, 42349164], [42351492, 42351720], [42351803, 42351949], [42352519, 42352596], [42352862, 42353043], [42353197, 42353324], [42354379, 42354440], [42354593, 42354768], [42355651, 42356398]]	[[42351496, 42351720], [42351803, 42351949], [42352519, 42352596], [42352862, 42353043], [42353197, 42353324], [42354379, 42354440], [42354593, 42354768], [42355651, 42355764]]

Promoter

Chrom	Start	End	Description
chr19	42349060	42349071	CAGE_peak_2_at_DMRTC2_5end
chr19	42349075	42349085	CAGE_peak_3_at_DMRTC2_5end
chr19	42349092	42349121	CAGE_peak_1_at_DMRTC2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I041821	41821219	41821368	0.59	[{'connected_gene': 'CEACAM3', 'score': 12.26}, {'connected_gene': 'DMRTC2', 'score': 12.0}, {'connected_gene': 'LYPD4', 'score': 12.0}, {'connected_gene': 'CEACAM6', 'score': 11.43}, {'connected_gene': 'CEACAM5', 'score': 10.72}, {'connected_gene': 'HNRNPA1P52', 'score': 0.44}, {'connected_gene': 'GC19P041806', 'score': 0.37}]
chr19	GH19I041795	41795309	41795458	0.87	[{'connected_gene': 'CEACAM3', 'score': 550.77}, {'connected_gene': 'CEACAM6', 'score': 11.48}, {'connected_gene': 'DMRTC2', 'score': 11.44}, {'connected_gene': 'LYPD4', 'score': 11.44}, {'connected_gene': 'CYP2G1P', 'score': 11.04}, {'connected_gene': 'CEACAM5', 'score': 10.67}, {'connected_gene': 'MEGF8', 'score': 10.29}, {'connected_gene': 'CEACAM7', 'score': 9.7}, {'connected_gene': 'GC19M041795', 'score': 0.77}, {'connected_gene': 'ENSG00000268833', 'score': 0.44}]
chr19	GH19I041797	41795069	41795258	0.89	[{'connected_gene': 'CEACAM3', 'score': 550.77}, {'connected_gene': 'CEACAM6', 'score': 11.48}, {'connected_gene': 'DMRTC2', 'score': 11.44}, {'connected_gene': 'LYPD4', 'score': 11.44}, {'connected_gene': 'CYP2G1P', 'score': 11.04}, {'connected_gene': 'CEACAM5', 'score': 10.67}, {'connected_gene': 'MEGF8', 'score': 10.29}, {'connected_gene': 'CEACAM7', 'score': 9.7}, {'connected_gene': 'GC19M041795', 'score': 0.77}, {'connected_gene': 'ENSG00000268833', 'score': 0.44}]
chr19	GH19I041808	41808601	41809437	0.2	[{'connected_gene': 'DMRTC2', 'score': 11.68}, {'connected_gene': 'LYPD4', 'score': 11.68}, {'connected_gene': 'GC19P041806', 'score': 0.77}, {'connected_gene': 'CEACAM3', 'score': 0.39}, {'connected_gene': 'HNRNPA1P52', 'score': 0.34}]
chr19	GH19I041810	41810001	41811800	0.77	[{'connected_gene': 'DMRTC2', 'score': 25.96}, {'connected_gene': 'LYPD4', 'score': 11.69}, {'connected_gene': 'GC19P041806', 'score': 0.77}, {'connected_gene': 'CEACAM3', 'score': 0.39}, {'connected_gene': 'HNRNPA1P52', 'score': 0.37}]
chr19	GH19I041846	41844993	41845052	0.73	[{'connected_gene': 'DMRTC2', 'score': 550.77}, {'connected_gene': 'LYPD4', 'score': 550.77}, {'connected_gene': 'RPS19', 'score': 0.39}]
chr19	GH19I041790	41790369	41791042	0.31	[{'connected_gene': 'DMRTC2', 'score': 12.19}, {'connected_gene': 'LYPD4', 'score': 12.19}, {'connected_gene': 'CEACAM6', 'score': 11.6}, {'connected_gene': 'ENSG00000268833', 'score': 0.77}, {'connected_gene': 'CEACAM3', 'score': 0.44}]
chr19	GH19I041791	41791397	41793797	0.6	[{'connected_gene': 'DMRTC2', 'score': 17.01}, {'connected_gene': 'LYPD4', 'score': 12.19}, {'connected_gene': 'CEACAM6', 'score': 11.58}, {'connected_gene': 'CEACAM5', 'score': 10.68}, {'connected_gene': 'CEACAM7', 'score': 10.48}, {'connected_gene': 'CEACAM3', 'score': 6.18}, {'connected_gene': 'ENSG00000268833', 'score': 0.44}]
chr19	GH19I041845	41844673	41844732	0.84	[{'connected_gene': 'DMRTC2', 'score': 550.77}, {'connected_gene': 'LYPD4', 'score': 550.77}, {'connected_gene': 'GC19M041840', 'score': 0.44}, {'connected_gene': 'PIR52767', 'score': 0.44}]
chr19	GH19I041843	41843001	41843200	0.46	[{'connected_gene': 'DMRTC2', 'score': 550.77}, {'connected_gene': 'LYPD4', 'score': 550.77}, {'connected_gene': 'GC19M041840', 'score': 0.77}, {'connected_gene': 'PIR52767', 'score': 0.77}]
chr19	GH19I041844	41844560	41844619	0.76	[{'connected_gene': 'DMRTC2', 'score': 550.77}, {'connected_gene': 'LYPD4', 'score': 550.77}, {'connected_gene': 'GC19M041840', 'score': 0.44}, {'connected_gene': 'PIR52767', 'score': 0.44}]
chr19	GH19I041996	41996009	41996293	0.83	[{'connected_gene': 'ATP1A3', 'score': 552.08}, {'connected_gene': 'GRIK5', 'score': 18.75}, {'connected_gene': 'DMRTC2', 'score': 4.2}, {'connected_gene': 'LYPD4', 'score': 4.08}, {'connected_gene': 'LIPE', 'score': 3.25}, {'connected_gene': 'TMEM145', 'score': 2.22}, {'connected_gene': 'RABAC1', 'score': 0.28}]
chr19	GH19I041778	41778836	41780967	0.43	[{'connected_gene': 'CEACAM6', 'score': 11.99}, {'connected_gene': 'DMRTC2', 'score': 11.17}, {'connected_gene': 'LYPD4', 'score': 11.17}, {'connected_gene': 'CEACAM7', 'score': 10.6}, {'connected_gene': 'CEACAM5', 'score': 10.59}, {'connected_gene': 'CEACAM4', 'score': 10.07}, {'connected_gene': 'DMAC2', 'score': 9.87}, {'connected_gene': 'ERICH4', 'score': 9.25}, {'connected_gene': 'ENSG00000268833', 'score': 0.44}]
chr19	GH19I042267	42267435	42274340	2.68	[{'connected_gene': 'CIC', 'score': 553.37}, {'connected_gene': 'PIR59110', 'score': 550.77}, {'connected_gene': 'ZNF526', 'score': 79.36}, {'connected_gene': 'ZNF574', 'score': 64.73}, {'connected_gene': 'CCDC97', 'score': 44.16}, {'connected_gene': 'DEDD2', 'score': 19.36}, {'connected_gene': 'MEGF8', 'score': 18.02}, {'connected_gene': 'CEACAM3', 'score': 15.92}, {'connected_gene': 'PRR19', 'score': 13.07}, {'connected_gene': 'PAFAH1B3', 'score': 13.07}, {'connected_gene': 'GSK3A', 'score': 12.84}, {'connected_gene': 'TMEM145', 'score': 10.12}, {'connected_gene': 'DMRTC2', 'score': 9.9}, {'connected_gene': 'LOC732229', 'score': 9.72}, {'connected_gene': 'LYPD4', 'score': 8.77}, {'connected_gene': 'LIPE', 'score': 6.93}, {'connected_gene': 'ARHGEF1', 'score': 5.82}, {'connected_gene': 'CEACAM8', 'score': 3.92}, {'connected_gene': 'ERF', 'score': 3.75}, {'connected_gene': 'POU2F2', 'score': 1.91}]
chr19	GH19I041777	41777675	41778501	0.2	[{'connected_gene': 'LYPD4', 'score': 15.89}, {'connected_gene': 'CEACAM6', 'score': 13.11}, {'connected_gene': 'DMRTC2', 'score': 11.74}, {'connected_gene': 'CEACAM5', 'score': 11.29}, {'connected_gene': 'CEACAM4', 'score': 10.85}, {'connected_gene': 'CEACAM7', 'score': 10.77}, {'connected_gene': 'DMAC2', 'score': 9.87}, {'connected_gene': 'ERICH4', 'score': 9.42}, {'connected_gene': 'ENSG00000268833', 'score': 0.44}]
chr19	GH19I041732	41732481	41737086	1.03	[{'connected_gene': 'CEACAM7', 'score': 22.7}, {'connected_gene': 'CEACAM5', 'score': 11.81}, {'connected_gene': 'DMRTC2', 'score': 10.83}, {'connected_gene': 'LYPD4', 'score': 10.82}, {'connected_gene': 'CEACAM6', 'score': 0.37}, {'connected_gene': 'ENSG00000267881', 'score': 0.31}]
chr19	GH19I041738	41738776	41742189	0.54	[{'connected_gene': 'CEACAM5', 'score': 11.79}, {'connected_gene': 'DMRTC2', 'score': 11.4}, {'connected_gene': 'LYPD4', 'score': 11.4}, {'connected_gene': 'CEACAM7', 'score': 11.08}, {'connected_gene': 'CEACAM4', 'score': 10.74}, {'connected_gene': 'CEACAM6', 'score': 0.39}, {'connected_gene': 'ENSG00000267881', 'score': 0.29}]
chr19	GH19I041800	41800801	41803124	1.31	[{'connected_gene': 'LOC100422623', 'score': 550.77}, {'connected_gene': 'GC19M041795', 'score': 550.77}, {'connected_gene': 'CEACAM3', 'score': 28.0}, {'connected_gene': 'CEACAM4', 'score': 27.06}, {'connected_gene': 'DMRTC2', 'score': 25.09}, {'connected_gene': 'DEDD2', 'score': 17.06}, {'connected_gene': 'LYPD4', 'score': 11.72}, {'connected_gene': 'CEACAM6', 'score': 11.55}, {'connected_gene': 'CEACAM21', 'score': 5.86}, {'connected_gene': 'TMEM91', 'score': 5.71}, {'connected_gene': 'B9D2', 'score': 3.27}, {'connected_gene': 'TGFB1', 'score': 2.79}, {'connected_gene': 'ARHGEF1', 'score': 2.05}, {'connected_gene': 'ERF', 'score': 1.83}]
chr19	GH19I041804	41804308	41804674	0.48	[{'connected_gene': 'LOC100422623', 'score': 550.77}, {'connected_gene': 'GC19P041806', 'score': 550.77}, {'connected_gene': 'DMRTC2', 'score': 25.78}, {'connected_gene': 'CEACAM3', 'score': 25.31}, {'connected_gene': 'CEACAM4', 'score': 22.54}, {'connected_gene': 'DEDD2', 'score': 15.55}, {'connected_gene': 'LYPD4', 'score': 11.66}, {'connected_gene': 'TMEM91', 'score': 5.55}, {'connected_gene': 'CEACAM21', 'score': 4.85}, {'connected_gene': 'B9D2', 'score': 3.54}, {'connected_gene': 'TGFB1', 'score': 3.43}, {'connected_gene': 'ARHGEF1', 'score': 2.29}, {'connected_gene': 'ERF', 'score': 1.71}, {'connected_gene': 'CCDC97', 'score': 1.14}]
chr19	GH19I041787	41787809	41789598	0.43	[{'connected_gene': 'ENSG00000268833', 'score': 550.77}, {'connected_gene': 'CEACAM6', 'score': 12.8}, {'connected_gene': 'DMRTC2', 'score': 12.18}, {'connected_gene': 'LYPD4', 'score': 12.18}, {'connected_gene': 'CEACAM3', 'score': 0.44}]
chr19	GH19I041798	41797201	41799741	0.99	[{'connected_gene': 'GC19M041795', 'score': 550.77}, {'connected_gene': 'CEACAM4', 'score': 26.95}, {'connected_gene': 'CEACAM3', 'score': 24.73}, {'connected_gene': 'DEDD2', 'score': 17.13}, {'connected_gene': 'DMRTC2', 'score': 11.7}, {'connected_gene': 'LYPD4', 'score': 11.7}, {'connected_gene': 'CEACAM6', 'score': 11.57}, {'connected_gene': 'TMEM91', 'score': 5.76}, {'connected_gene': 'CEACAM21', 'score': 5.52}, {'connected_gene': 'PCAT19', 'score': 4.67}, {'connected_gene': 'B9D2', 'score': 3.35}, {'connected_gene': 'TGFB1', 'score': 2.87}, {'connected_gene': 'ARHGEF1', 'score': 2.28}, {'connected_gene': 'ERF', 'score': 1.75}]