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
ENST00000368885	[[111195972, 111196418], [111208707, 111208794], [111210059, 111210186], [111211456, 111211559], [111213363, 111213406], [111213501, 111213646], [111213937, 111214030], [111214112, 111214268], [111214678, 111216916]]	[[111196308, 111196418], [111208707, 111208794], [111210059, 111210186], [111211456, 111211559], [111213363, 111213406], [111213501, 111213646], [111213937, 111214030], [111214112, 111214268], [111214678, 111214819]]
ENST00000368882	[[111195972, 111196418], [111213363, 111213406], [111213501, 111213646], [111213937, 111214030], [111214112, 111214268], [111214678, 111216916]]	[[111213380, 111213406], [111213501, 111213646], [111213937, 111214030], [111214112, 111214268], [111214678, 111214819]]
ENST00000451850	[[111195986, 111196418], [111213501, 111213646], [111213937, 111214030], [111214112, 111214268], [111214678, 111215033]]	[[111196308, 111196418], [111213501, 111213646], [111213937, 111214030], [111214112, 111214268], [111214678, 111214819]]
ENST00000368877	[[111195987, 111196418], [111210059, 111210186], [111211456, 111211559], [111213363, 111213406], [111213501, 111213646], [111213937, 111214030], [111214112, 111214268], [111214678, 111215185]]	[[111196308, 111196418], [111210059, 111210186], [111211456, 111211559], [111213363, 111213406], [111213501, 111213646], [111213937, 111214030], [111214112, 111214268], [111214678, 111214819]]
ENST00000368876	[[111196777, 111196825], [111208707, 111208794], [111210059, 111210186], [111211456, 111211559], [111213363, 111213406], [111213501, 111213646], [111213937, 111214030], [111214112, 111214268], [111214678, 111216916]]	[[111210069, 111210186], [111211456, 111211559], [111213363, 111213406], [111213501, 111213646], [111213937, 111214030], [111214112, 111214268], [111214678, 111214819]]
ENST00000465404	[[111214027, 111214030], [111214075, 111214268], [111214678, 111215264]]	[[111214027, 111214030], [111214075, 111214090]]
NM_001287215	[[111135823, 111136018], [111208707, 111208794], [111210059, 111210186], [111211456, 111211559], [111213363, 111213406], [111213501, 111213646], [111213937, 111214030], [111214112, 111214268], [111214678, 111216916]]	[[111210069, 111210186], [111211456, 111211559], [111213363, 111213406], [111213501, 111213646], [111213937, 111214030], [111214112, 111214268], [111214678, 111214819]]
NM_001287216	[[111195986, 111196418], [111213501, 111213646], [111213937, 111214030], [111214112, 111214268], [111214678, 111216916]]	[[111196308, 111196418], [111213501, 111213646], [111213937, 111214030], [111214112, 111214268], [111214678, 111214819]]
NR_109768	[[111195986, 111196418], [111213363, 111213406], [111213501, 111213646], [111213937, 111214030], [111214112, 111214268], [111214678, 111216916]]	None
NM_001287214	[[111195986, 111196418], [111210059, 111210186], [111211456, 111211559], [111213363, 111213406], [111213501, 111213646], [111213937, 111214030], [111214112, 111214268], [111214678, 111216916]]	[[111196308, 111196418], [111210059, 111210186], [111211456, 111211559], [111213363, 111213406], [111213501, 111213646], [111213937, 111214030], [111214112, 111214268], [111214678, 111214819]]
NM_001634	[[111195986, 111196418], [111208707, 111208794], [111210059, 111210186], [111211456, 111211559], [111213363, 111213406], [111213501, 111213646], [111213937, 111214030], [111214112, 111214268], [111214678, 111216916]]	[[111196308, 111196418], [111208707, 111208794], [111210059, 111210186], [111211456, 111211559], [111213363, 111213406], [111213501, 111213646], [111213937, 111214030], [111214112, 111214268], [111214678, 111214819]]

Promoter

Chrom	Start	End	Description
chr6	111135804	111135855	CAGE_peak_2_at_AMD1_5end
chr6	111135856	111135879	CAGE_peak_3_at_AMD1_5end
chr6	111135947	111135958	CAGE_peak_12_at_AMD1_5end
chr6	111195979	111195994	CAGE_peak_1_at_AMD1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I110944	110944238	110945599	1.34	[{'connected_gene': 'RPF2', 'score': 20.17}, {'connected_gene': 'CDK19', 'score': 11.33}, {'connected_gene': 'AMD1', 'score': 4.13}, {'connected_gene': 'SLC16A10', 'score': 3.37}, {'connected_gene': 'GTF3C6', 'score': 0.39}, {'connected_gene': 'LOC442244', 'score': 0.34}]
chr6	GH06I110951	110951966	110953100	1.12	[{'connected_gene': 'RPF2', 'score': 11.81}, {'connected_gene': 'CDK19', 'score': 10.19}, {'connected_gene': 'AMD1', 'score': 10.19}, {'connected_gene': 'RNU6-957P', 'score': 9.86}, {'connected_gene': 'GTF3C6', 'score': 4.68}, {'connected_gene': 'LOC442244', 'score': 0.31}]
chr6	GH06I110949	110949601	110949947	0.74	[{'connected_gene': 'RPF2', 'score': 19.45}, {'connected_gene': 'CDK19', 'score': 10.74}, {'connected_gene': 'AMD1', 'score': 10.61}, {'connected_gene': 'RNU6-957P', 'score': 10.1}, {'connected_gene': 'GTF3C6', 'score': 4.48}, {'connected_gene': 'LOC442244', 'score': 0.31}]
chr6	GH06I110884	110884001	110886200	0.83	[{'connected_gene': 'RPF2', 'score': 18.91}, {'connected_gene': 'CDK19', 'score': 12.0}, {'connected_gene': 'GTF3C6', 'score': 11.49}, {'connected_gene': 'RNU6-957P', 'score': 11.05}, {'connected_gene': 'GC06P110895', 'score': 0.39}, {'connected_gene': 'ENSG00000271607', 'score': 0.34}, {'connected_gene': 'AMD1', 'score': 0.19}]
chr6	GH06I110689	110689284	110690790	0.72	[{'connected_gene': 'RPF2', 'score': 18.7}, {'connected_gene': 'RNU6-957P', 'score': 12.41}, {'connected_gene': 'AMD1', 'score': 11.8}, {'connected_gene': 'CDK19', 'score': 11.1}, {'connected_gene': 'GTF3C6', 'score': 10.22}, {'connected_gene': 'RPS20P18', 'score': 0.39}, {'connected_gene': 'LOC100129155', 'score': 0.26}]
chr6	GH06I110826	110826001	110827599	0.66	[{'connected_gene': 'RPF2', 'score': 18.04}, {'connected_gene': 'RNU6-957P', 'score': 11.01}, {'connected_gene': 'GTF3C6', 'score': 10.64}, {'connected_gene': 'AMD1', 'score': 7.53}, {'connected_gene': 'CDK19', 'score': 0.39}, {'connected_gene': 'GC06P110850', 'score': 0.34}]
chr6	GH06I110527	110527543	110531417	1.44	[{'connected_gene': 'RPF2', 'score': 5.01}, {'connected_gene': 'LOC105377938', 'score': 4.6}, {'connected_gene': 'DDO', 'score': 4.45}, {'connected_gene': 'AMD1', 'score': 4.33}, {'connected_gene': 'LOC105377940', 'score': 0.37}, {'connected_gene': 'GC06P110478', 'score': 0.23}]
chr6	GH06I110859	110859001	110860200	1.19	[{'connected_gene': 'CNN2P9', 'score': 550.77}, {'connected_gene': 'CDK19', 'score': 10.6}, {'connected_gene': 'AMD1', 'score': 5.77}, {'connected_gene': 'SLC16A10', 'score': 2.47}, {'connected_gene': 'ENSG00000271607', 'score': 0.77}]
chr6	GH06I110873	110873253	110879857	2.58	[{'connected_gene': 'AMD1', 'score': 558.54}, {'connected_gene': 'MFSD4B', 'score': 41.23}, {'connected_gene': 'ENSG00000220506', 'score': 31.34}, {'connected_gene': 'BRD7P4', 'score': 19.45}, {'connected_gene': 'RPF2', 'score': 19.14}, {'connected_gene': 'CDK19', 'score': 19.02}, {'connected_gene': 'CNN2P9', 'score': 18.83}, {'connected_gene': 'FCF1P5', 'score': 18.46}, {'connected_gene': 'GTF3C6', 'score': 11.48}, {'connected_gene': 'RNU6-957P', 'score': 11.06}, {'connected_gene': 'ENSG00000272356', 'score': 10.09}, {'connected_gene': 'CDC40', 'score': 9.86}, {'connected_gene': 'SLC16A10', 'score': 7.15}, {'connected_gene': 'ENSG00000271607', 'score': 0.39}, {'connected_gene': 'GC06P110895', 'score': 0.37}]
chr6	GH06I110754	110754869	110756278	0.63	[{'connected_gene': 'AMD1', 'score': 18.64}, {'connected_gene': 'RPF2', 'score': 17.77}, {'connected_gene': 'RNU6-957P', 'score': 12.1}, {'connected_gene': 'CDK19', 'score': 11.6}, {'connected_gene': 'GTF3C6', 'score': 9.89}]
chr6	GH06I110681	110681641	110683005	1.32	[{'connected_gene': 'AMD1', 'score': 18.56}, {'connected_gene': 'CDK19', 'score': 11.56}, {'connected_gene': 'GTF3C6', 'score': 11.33}, {'connected_gene': 'RNU6-957P', 'score': 11.26}, {'connected_gene': 'RPF2', 'score': 11.0}, {'connected_gene': 'CNN2P9', 'score': 10.18}, {'connected_gene': 'RPS20P18', 'score': 0.37}, {'connected_gene': 'LOC100129155', 'score': 0.28}]
chr6	GH06I110810	110810842	110812080	0.56	[{'connected_gene': 'AMD1', 'score': 0.77}, {'connected_gene': 'CDK19', 'score': 0.44}, {'connected_gene': 'RNU6-957P', 'score': 0.17}]
chr6	GH06I110687	110687061	110688098	0.2	[{'connected_gene': 'AMD1', 'score': 18.55}, {'connected_gene': 'RNU6-957P', 'score': 12.01}, {'connected_gene': 'GTF3C6', 'score': 11.51}, {'connected_gene': 'CDK19', 'score': 11.18}, {'connected_gene': 'RPF2', 'score': 10.98}, {'connected_gene': 'RPS20P18', 'score': 0.39}, {'connected_gene': 'LOC100129155', 'score': 0.26}]
chr6	GH06I110866	110866178	110867685	1.19	[{'connected_gene': 'CDK19', 'score': 11.58}, {'connected_gene': 'CNN2P9', 'score': 8.85}, {'connected_gene': 'ENSG00000271607', 'score': 0.77}, {'connected_gene': 'GC06P110895', 'score': 0.31}, {'connected_gene': 'AMD1', 'score': 0.23}]
chr6	GH06I110813	110813256	110817357	2.12	[{'connected_gene': 'CDK19', 'score': 560.97}, {'connected_gene': 'AMD1', 'score': 558.45}, {'connected_gene': 'MFSD4B', 'score': 32.59}, {'connected_gene': 'ENSG00000220506', 'score': 30.95}, {'connected_gene': 'FCF1P5', 'score': 18.8}, {'connected_gene': 'RPF2', 'score': 15.76}, {'connected_gene': 'CNN2P9', 'score': 10.35}, {'connected_gene': 'BRD7P4', 'score': 10.06}, {'connected_gene': 'CDC40', 'score': 9.86}]
chr6	GH06I110738	110738801	110739624	1.06	[{'connected_gene': 'CDK19', 'score': 11.33}, {'connected_gene': 'AMD1', 'score': 7.82}, {'connected_gene': 'RNU6-957P', 'score': 0.37}]
chr6	GH06I110841	110841201	110841400	0.31	[{'connected_gene': 'CDK19', 'score': 8.36}, {'connected_gene': 'GC06P110850', 'score': 0.44}, {'connected_gene': 'AMD1', 'score': 0.31}]
chr6	GH06I110817	110817758	110817927	0.38	[{'connected_gene': 'CDK19', 'score': 550.77}, {'connected_gene': 'AMD1', 'score': 0.77}, {'connected_gene': 'GC06P110850', 'score': 0.29}]
chr6	GH06I110677	110677371	110679377	0.2	[{'connected_gene': 'CDK19', 'score': 19.71}, {'connected_gene': 'GTF3C6', 'score': 15.45}, {'connected_gene': 'RPF2', 'score': 11.42}, {'connected_gene': 'RNU6-957P', 'score': 11.26}, {'connected_gene': 'AMD1', 'score': 11.04}, {'connected_gene': 'RPS20P18', 'score': 0.34}, {'connected_gene': 'LOC100129155', 'score': 0.29}]
chr6	GH06I110669	110669843	110676465	0.43	[{'connected_gene': 'CDK19', 'score': 21.05}, {'connected_gene': 'GTF3C6', 'score': 15.54}, {'connected_gene': 'RNU6-957P', 'score': 11.69}, {'connected_gene': 'RPF2', 'score': 11.42}, {'connected_gene': 'AMD1', 'score': 7.76}, {'connected_gene': 'RPS20P18', 'score': 0.31}, {'connected_gene': 'LOC100129155', 'score': 0.31}]
chr6	GH06I110888	110888724	110889761	0.31	[{'connected_gene': 'CDK19', 'score': 18.0}, {'connected_gene': 'GTF3C6', 'score': 11.86}, {'connected_gene': 'RNU6-957P', 'score': 10.92}, {'connected_gene': 'RPF2', 'score': 10.87}, {'connected_gene': 'AMD1', 'score': 7.76}, {'connected_gene': 'GC06P110895', 'score': 0.44}, {'connected_gene': 'ENSG00000271607', 'score': 0.31}]
chr6	GH06I110679	110679542	110680934	0.31	[{'connected_gene': 'CDK19', 'score': 21.66}, {'connected_gene': 'GTF3C6', 'score': 11.33}, {'connected_gene': 'RNU6-957P', 'score': 11.26}, {'connected_gene': 'AMD1', 'score': 11.04}, {'connected_gene': 'RPF2', 'score': 11.0}, {'connected_gene': 'RPS20P18', 'score': 0.34}, {'connected_gene': 'LOC100129155', 'score': 0.29}]
chr6	GH06I111113	111113260	111114698	1.19	[{'connected_gene': 'SLC16A10', 'score': 17.07}, {'connected_gene': 'MFSD4B', 'score': 12.45}, {'connected_gene': 'AMD1', 'score': 5.75}, {'connected_gene': 'REV3L', 'score': 2.76}, {'connected_gene': 'TRAF3IP2', 'score': 2.33}, {'connected_gene': 'RNU6-960P', 'score': 0.34}, {'connected_gene': 'ENSG00000231046', 'score': 0.11}]
chr6	GH06I111086	111086838	111089041	2.19	[{'connected_gene': 'SLC16A10', 'score': 560.39}, {'connected_gene': 'MFSD4B', 'score': 9.28}, {'connected_gene': 'AMD1', 'score': 2.95}, {'connected_gene': 'REV3L', 'score': 1.93}, {'connected_gene': 'GC06M111092', 'score': 0.77}]
chr6	GH06I111239	111239157	111239743	0.94	[{'connected_gene': 'SLC16A10', 'score': 18.48}, {'connected_gene': 'REV3L', 'score': 13.67}, {'connected_gene': 'MFSD4B', 'score': 10.27}, {'connected_gene': 'TRAF3IP2-AS1', 'score': 10.25}, {'connected_gene': 'AMD1', 'score': 3.94}, {'connected_gene': 'TRAF3IP2', 'score': 2.49}, {'connected_gene': 'ENSG00000231046', 'score': 0.37}, {'connected_gene': 'RNU6-960P', 'score': 0.11}]
chr6	GH06I111238	111238400	111238801	1.03	[{'connected_gene': 'SLC16A10', 'score': 17.23}, {'connected_gene': 'REV3L', 'score': 11.96}, {'connected_gene': 'TRAF3IP2-AS1', 'score': 10.25}, {'connected_gene': 'ENSG00000230177', 'score': 4.42}, {'connected_gene': 'AMD1', 'score': 4.19}, {'connected_gene': 'TRAF3IP2', 'score': 1.48}, {'connected_gene': 'ENSG00000231046', 'score': 0.34}, {'connected_gene': 'RNU6-960P', 'score': 0.11}]
chr6	GH06I111075	111075863	111076800	0.42	[{'connected_gene': 'SLC16A10', 'score': 10.97}, {'connected_gene': 'AMD1', 'score': 3.23}, {'connected_gene': 'REV3L', 'score': 2.08}, {'connected_gene': 'GSTM2P1', 'score': 0.31}]
chr6	GH06I111119	111119962	111120335	0.61	[{'connected_gene': 'SLC16A10', 'score': 16.48}, {'connected_gene': 'AMD1', 'score': 5.47}, {'connected_gene': 'REV3L', 'score': 2.58}, {'connected_gene': 'TRAF3IP2', 'score': 2.15}, {'connected_gene': 'RNU6-960P', 'score': 0.31}, {'connected_gene': 'ENSG00000231046', 'score': 0.12}]
chr6	GH06I110934	110934042	110934360	0.48	[{'connected_gene': 'SLC16A10', 'score': 2.84}, {'connected_gene': 'AMD1', 'score': 2.69}, {'connected_gene': 'LOC442244', 'score': 0.39}, {'connected_gene': 'GTF3C6', 'score': 0.34}]
chr6	GH06I111061	111061522	111061775	0.66	[{'connected_gene': 'SLC16A10', 'score': 17.29}, {'connected_gene': 'RNU6-960P', 'score': 11.98}, {'connected_gene': 'FYN', 'score': 4.68}, {'connected_gene': 'AMD1', 'score': 2.46}, {'connected_gene': 'REV3L', 'score': 1.46}, {'connected_gene': 'GSTM2P1', 'score': 0.39}]
chr6	GH06I110891	110891151	110891899	0.2	[{'connected_gene': 'GTF3C6', 'score': 11.63}, {'connected_gene': 'CDK19', 'score': 11.02}, {'connected_gene': 'RNU6-957P', 'score': 10.92}, {'connected_gene': 'RPF2', 'score': 10.76}, {'connected_gene': 'GC06P110895', 'score': 0.77}, {'connected_gene': 'ENSG00000271607', 'score': 0.31}, {'connected_gene': 'AMD1', 'score': 0.18}]
chr6	GH06I110617	110617138	110617495	1.08	[{'connected_gene': 'GTF3C6', 'score': 10.5}, {'connected_gene': 'SLC16A10', 'score': 8.88}, {'connected_gene': 'AMD1', 'score': 3.06}, {'connected_gene': 'LOC100420531', 'score': 0.37}, {'connected_gene': 'LOC100129155', 'score': 0.31}, {'connected_gene': 'CDK19', 'score': 0.08}]
chr6	GH06I110685	110685176	110686831	0.2	[{'connected_gene': 'GTF3C6', 'score': 11.33}, {'connected_gene': 'RNU6-957P', 'score': 11.28}, {'connected_gene': 'CDK19', 'score': 11.17}, {'connected_gene': 'RPF2', 'score': 10.98}, {'connected_gene': 'AMD1', 'score': 7.74}, {'connected_gene': 'RPS20P18', 'score': 0.39}, {'connected_gene': 'LOC100129155', 'score': 0.26}]
chr6	GH06I111289	111289781	111292676	1.15	[{'connected_gene': 'TRAF3IP2', 'score': 12.05}, {'connected_gene': 'ENSG00000230177', 'score': 9.37}, {'connected_gene': 'REV3L', 'score': 7.42}, {'connected_gene': 'ENSG00000255389', 'score': 6.87}, {'connected_gene': 'MFSD4B', 'score': 5.73}, {'connected_gene': 'AMD1', 'score': 1.77}, {'connected_gene': 'SLC16A10', 'score': 1.21}, {'connected_gene': 'GC06P111298', 'score': 0.77}, {'connected_gene': 'PIR46198', 'score': 0.77}, {'connected_gene': 'PIR44403', 'score': 0.39}]
chr6	GH06I110821	110819918	110820067	0.82	[{'connected_gene': 'RNU6-957P', 'score': 11.02}, {'connected_gene': 'RPF2', 'score': 11.01}, {'connected_gene': 'GTF3C6', 'score': 10.64}, {'connected_gene': 'CDK19', 'score': 0.77}, {'connected_gene': 'AMD1', 'score': 0.44}, {'connected_gene': 'GC06P110850', 'score': 0.31}]
chr6	GH06I110820	110820365	110821487	0.72	[{'connected_gene': 'RNU6-957P', 'score': 11.02}, {'connected_gene': 'RPF2', 'score': 11.01}, {'connected_gene': 'GTF3C6', 'score': 10.64}, {'connected_gene': 'CDK19', 'score': 0.77}, {'connected_gene': 'AMD1', 'score': 0.44}, {'connected_gene': 'GC06P110850', 'score': 0.31}]
chr6	GH06I110688	110688601	110689200	0.63	[{'connected_gene': 'RNU6-957P', 'score': 11.75}, {'connected_gene': 'AMD1', 'score': 10.92}, {'connected_gene': 'RPF2', 'score': 10.3}, {'connected_gene': 'GTF3C6', 'score': 10.14}, {'connected_gene': 'RPS20P18', 'score': 0.39}, {'connected_gene': 'LOC100129155', 'score': 0.26}, {'connected_gene': 'CDK19', 'score': 0.13}]
chr6	GH06I110750	110750401	110751400	0.75	[{'connected_gene': 'RNU6-957P', 'score': 12.18}, {'connected_gene': 'CDK19', 'score': 11.47}, {'connected_gene': 'RPF2', 'score': 10.11}, {'connected_gene': 'GTF3C6', 'score': 9.52}, {'connected_gene': 'AMD1', 'score': 4.42}]
chr6	GH06I110746	110746307	110747453	0.74	[{'connected_gene': 'RNU6-957P', 'score': 12.75}, {'connected_gene': 'CDK19', 'score': 11.35}, {'connected_gene': 'GTF3C6', 'score': 9.98}, {'connected_gene': 'AMD1', 'score': 0.2}]
chr6	GH06I110819	110819698	110819847	0.88	[{'connected_gene': 'ENSG00000220506', 'score': 13.03}, {'connected_gene': 'REV3L', 'score': 11.41}, {'connected_gene': 'RNU6-957P', 'score': 11.02}, {'connected_gene': 'RPF2', 'score': 11.01}, {'connected_gene': 'GTF3C6', 'score': 10.64}, {'connected_gene': 'FCF1P5', 'score': 10.62}, {'connected_gene': 'BRD7P4', 'score': 10.47}, {'connected_gene': 'MFSD4B', 'score': 10.14}, {'connected_gene': 'CDK19', 'score': 0.77}, {'connected_gene': 'AMD1', 'score': 0.44}, {'connected_gene': 'GC06P110850', 'score': 0.31}]
chr6	GH06I111624	111624741	111627275	1.22	[{'connected_gene': 'ENSG00000255389', 'score': 11.1}, {'connected_gene': 'AMD1', 'score': 4.79}, {'connected_gene': 'LAMA4', 'score': 4.76}, {'connected_gene': 'TRAF3IP2', 'score': 4.75}, {'connected_gene': 'LOC105377944', 'score': 0.31}]
chr6	GH06I110699	110699926	110701387	0.88	[{'connected_gene': 'GC06P110701', 'score': 550.77}, {'connected_gene': 'RPS20P18', 'score': 550.77}, {'connected_gene': 'REV3L', 'score': 13.26}, {'connected_gene': 'RNU6-957P', 'score': 12.55}, {'connected_gene': 'RPF2', 'score': 10.69}, {'connected_gene': 'CDK19', 'score': 10.51}, {'connected_gene': 'GTF3C6', 'score': 10.28}, {'connected_gene': 'AMD1', 'score': 5.29}, {'connected_gene': 'ENSG00000219150', 'score': 0.44}]