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
ENST00000239614	[[124636393, 124637924], [124642889, 124642950], [124644614, 124644714], [124669766, 124670569]]	[[124637071, 124637924], [124642889, 124642950], [124644614, 124644714], [124669766, 124670276]]
ENST00000374979	[[124636411, 124637924], [124642889, 124642950], [124644614, 124644870], [124669766, 124670285]]	[[124637071, 124637924], [124642889, 124642950], [124644614, 124644870], [124669766, 124670276]]
ENST00000524950	[[124637389, 124637924], [124642889, 124642950], [124669766, 124670279]]	[[124642920, 124642950], [124669766, 124670276]]
ENST00000527140	[[124637843, 124637924], [124642889, 124642950], [124644614, 124644727], [124669766, 124670286]]	[[124642946, 124642950], [124644614, 124644727], [124669766, 124670276]]
ENST00000526629	[[124636423, 124637924], [124642889, 124642950], [124644614, 124646138]]	[[124637071, 124637924], [124642889, 124642950], [124644614, 124644690]]
ENST00000533514	[[124637729, 124637924], [124642889, 124643276]]	None
NM_001308027	[[124636393, 124637924], [124642889, 124642950], [124644614, 124644870], [124669766, 124670300]]	[[124637071, 124637924], [124642889, 124642950], [124644614, 124644870], [124669766, 124670276]]
NM_001312921	[[124636393, 124637924], [124642889, 124642950], [124644614, 124644727], [124669766, 124670300]]	[[124637071, 124637924], [124642889, 124642950], [124644614, 124644690]]
NM_024631	[[124636393, 124637924], [124642889, 124642950], [124644614, 124644714], [124669766, 124670300]]	[[124637071, 124637924], [124642889, 124642950], [124644614, 124644714], [124669766, 124670276]]
NM_001312919	[[124636393, 124637924], [124642889, 124642950], [124669766, 124670300]]	[[124642920, 124642950], [124669766, 124670276]]
NM_001312920	[[124636393, 124637924], [124642889, 124642950], [124644614, 124646138]]	[[124637071, 124637924], [124642889, 124642950], [124644614, 124644690]]

Promoter

Chrom	Start	End	Description
chr11	124670273	124670316	CAGE_peak_1_at_C11orf61_5end
chr11	124670550	124670574	CAGE_peak_2_at_C11orf61_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I124776	124776266	124776325	0.5	[{'connected_gene': 'MSANTD2', 'score': 550.34}, {'connected_gene': 'VSIG2', 'score': 5.57}, {'connected_gene': 'ESAM', 'score': 0.39}, {'connected_gene': 'ENSG00000254509', 'score': 0.39}]
chr11	GH11I125273	125273825	125273974	1.01	[{'connected_gene': 'MSANTD2', 'score': 20.61}, {'connected_gene': 'TMEM218', 'score': 14.73}, {'connected_gene': 'ENSG00000254509', 'score': 14.19}, {'connected_gene': 'ENSG00000254694', 'score': 12.23}, {'connected_gene': 'STT3A', 'score': 11.71}, {'connected_gene': 'CDON', 'score': 9.98}, {'connected_gene': 'GC11M125262', 'score': 0.77}, {'connected_gene': 'RNU6-321P', 'score': 0.77}, {'connected_gene': 'PKNOX2', 'score': 0.14}]
chr11	GH11I124798	124798001	124798200	0.2	[{'connected_gene': 'MSANTD2', 'score': 0.77}, {'connected_gene': 'LOC100507283', 'score': 0.77}, {'connected_gene': 'ENSG00000279342', 'score': 0.44}]
chr11	GH11I124642	124642816	124645294	1.35	[{'connected_gene': 'ZNF202', 'score': 33.22}, {'connected_gene': 'MSANTD2', 'score': 28.67}, {'connected_gene': 'TMEM218', 'score': 25.22}, {'connected_gene': 'STT3A', 'score': 20.31}, {'connected_gene': 'ENSG00000254509', 'score': 14.26}, {'connected_gene': 'SPA17', 'score': 12.06}, {'connected_gene': 'OR8A1', 'score': 3.11}, {'connected_gene': 'OR8B4', 'score': 2.92}, {'connected_gene': 'OR8D1', 'score': 2.37}, {'connected_gene': 'OR8G1', 'score': 1.48}, {'connected_gene': 'OR8D2', 'score': 1.32}, {'connected_gene': 'OR8B12', 'score': 1.31}, {'connected_gene': 'OR8B8', 'score': 1.19}, {'connected_gene': 'RNA5SP352', 'score': 0.44}, {'connected_gene': 'SIAE', 'score': 0.23}]
chr11	GH11I124836	124836087	124838070	0.94	[{'connected_gene': 'ROBO3', 'score': 11.97}, {'connected_gene': 'MSANTD2', 'score': 11.93}, {'connected_gene': 'LOC100507283', 'score': 11.93}, {'connected_gene': 'SIAE', 'score': 11.35}, {'connected_gene': 'SPA17', 'score': 11.33}, {'connected_gene': 'ESAM', 'score': 11.0}, {'connected_gene': 'LOC101929340', 'score': 10.99}, {'connected_gene': 'VSIG2', 'score': 10.98}, {'connected_gene': 'ENSG00000255045', 'score': 10.97}, {'connected_gene': 'NRGN', 'score': 10.86}, {'connected_gene': 'ROBO4', 'score': 9.57}, {'connected_gene': 'CCDC15', 'score': 9.3}, {'connected_gene': 'GC11M124844', 'score': 0.44}, {'connected_gene': 'GC11M124812', 'score': 0.34}]
chr11	GH11I125163	125163085	125171701	2.12	[{'connected_gene': 'PKNOX2', 'score': 550.77}, {'connected_gene': 'CCDC15', 'score': 14.73}, {'connected_gene': 'MSANTD2', 'score': 13.39}, {'connected_gene': 'ENSG00000255475', 'score': 11.73}, {'connected_gene': 'LOC105369549', 'score': 10.88}, {'connected_gene': 'TMEM218', 'score': 10.5}, {'connected_gene': 'RNU6-321P', 'score': 10.35}, {'connected_gene': 'STT3A', 'score': 9.95}, {'connected_gene': 'ENSG00000254509', 'score': 9.81}, {'connected_gene': 'DDX25', 'score': 5.34}, {'connected_gene': 'KRT18P59', 'score': 4.89}, {'connected_gene': 'ENSG00000254941', 'score': 4.69}, {'connected_gene': 'PKNOX2-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000259290', 'score': 0.34}]
chr11	GH11I124768	124768953	124772270	0.88	[{'connected_gene': 'NRGN', 'score': 12.52}, {'connected_gene': 'SIAE', 'score': 11.69}, {'connected_gene': 'SPA17', 'score': 11.65}, {'connected_gene': 'LOC100507283', 'score': 11.23}, {'connected_gene': 'MSANTD2', 'score': 11.21}, {'connected_gene': 'ROBO3', 'score': 10.13}, {'connected_gene': 'VSIG2', 'score': 5.88}, {'connected_gene': 'ESAM', 'score': 0.44}, {'connected_gene': 'ENSG00000254509', 'score': 0.34}]
chr11	GH11I125591	125591163	125594304	2.08	[{'connected_gene': 'STT3A', 'score': 562.43}, {'connected_gene': 'STT3A-AS1', 'score': 550.77}, {'connected_gene': 'HP11014', 'score': 38.61}, {'connected_gene': 'TMEM218', 'score': 22.92}, {'connected_gene': 'CHEK1', 'score': 22.75}, {'connected_gene': 'MSANTD2', 'score': 20.59}, {'connected_gene': 'ENSG00000254509', 'score': 14.18}, {'connected_gene': 'TIRAP', 'score': 12.38}, {'connected_gene': 'ENSG00000254694', 'score': 12.23}, {'connected_gene': 'EI24', 'score': 11.93}, {'connected_gene': 'CDON', 'score': 10.0}, {'connected_gene': 'DDX25', 'score': 7.52}, {'connected_gene': 'FEZ1', 'score': 5.59}, {'connected_gene': 'PUS3', 'score': 4.47}]
chr11	GH11I124682	124682899	124683193	0.42	[{'connected_gene': 'OR8B4', 'score': 1.81}, {'connected_gene': 'MSANTD2', 'score': 1.44}, {'connected_gene': 'SPA17', 'score': 0.44}, {'connected_gene': 'SIAE', 'score': 0.39}]
chr11	GH11I124224	124224555	124225645	0.97	[{'connected_gene': 'OR8G2P', 'score': 550.77}, {'connected_gene': 'GC11P124227', 'score': 550.77}, {'connected_gene': 'VWA5A', 'score': 23.29}, {'connected_gene': 'MSANTD2', 'score': 20.59}, {'connected_gene': 'ZNF202', 'score': 18.79}, {'connected_gene': 'TMEM218', 'score': 14.66}, {'connected_gene': 'ENSG00000254509', 'score': 14.18}, {'connected_gene': 'LOC102724410', 'score': 0.77}]
chr11	GH11I125624	125624374	125627766	2.11	[{'connected_gene': 'CHEK1', 'score': 562.92}, {'connected_gene': 'HP11014', 'score': 35.3}, {'connected_gene': 'TMEM218', 'score': 34.82}, {'connected_gene': 'TIRAP', 'score': 26.43}, {'connected_gene': 'MSANTD2', 'score': 21.8}, {'connected_gene': 'FEZ1', 'score': 15.73}, {'connected_gene': 'STT3A', 'score': 13.6}, {'connected_gene': 'CCDC15', 'score': 12.93}, {'connected_gene': 'ACRV1', 'score': 4.89}, {'connected_gene': 'PUS3', 'score': 4.8}, {'connected_gene': 'RNU2-35P', 'score': 0.34}]
chr11	GH11I124799	124798575	124801894	2.25	[{'connected_gene': 'LOC100507283', 'score': 559.62}, {'connected_gene': 'MSANTD2', 'score': 550.77}, {'connected_gene': 'ENSG00000254941', 'score': 6.71}, {'connected_gene': 'GC11M124798', 'score': 0.77}, {'connected_gene': 'GC11M124799', 'score': 0.77}, {'connected_gene': 'ENSG00000279342', 'score': 0.44}]
chr11	GH11I124777	124777305	124777454	0.2	[{'connected_gene': 'ENSG00000254509', 'score': 0.39}, {'connected_gene': 'ESAM', 'score': 0.37}, {'connected_gene': 'MSANTD2', 'score': 0.34}]
chr11	GH11I124793	124793785	124793934	0.64	[{'connected_gene': 'ENSG00000279342', 'score': 550.77}, {'connected_gene': 'ESAM', 'score': 11.72}, {'connected_gene': 'LOC101929340', 'score': 11.72}, {'connected_gene': 'VSIG2', 'score': 11.68}, {'connected_gene': 'ENSG00000255045', 'score': 11.67}, {'connected_gene': 'SIAE', 'score': 11.44}, {'connected_gene': 'SPA17', 'score': 11.42}, {'connected_gene': 'NRGN', 'score': 10.61}, {'connected_gene': 'ROBO3', 'score': 9.96}, {'connected_gene': 'LOC100507283', 'score': 6.07}, {'connected_gene': 'MSANTD2', 'score': 0.44}]
chr11	GH11I125267	125267847	125273729	1	[{'connected_gene': 'GC11M125262', 'score': 550.77}, {'connected_gene': 'MSANTD2', 'score': 20.61}, {'connected_gene': 'TMEM218', 'score': 14.74}, {'connected_gene': 'ENSG00000254509', 'score': 14.2}, {'connected_gene': 'ENSG00000254694', 'score': 12.23}, {'connected_gene': 'STT3A', 'score': 11.71}, {'connected_gene': 'CDON', 'score': 9.98}, {'connected_gene': 'RNU6-321P', 'score': 0.44}, {'connected_gene': 'PKNOX2', 'score': 0.14}]