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
ENST00000311268	[[6930710, 6931066], [6932633, 6933931], [6934648, 6934838], [6935360, 6935518], [6935817, 6936583]]	[[6933064, 6933931], [6934648, 6934838], [6935360, 6935518], [6935817, 6936369]]
ENST00000535220	[[6930789, 6931066], [6932633, 6934338]]	None
ENST00000428545	[[6930869, 6931066], [6932633, 6932929], [6934648, 6934838], [6935360, 6935518], [6935817, 6936586]]	[[6932914, 6932929], [6934648, 6934838], [6935360, 6935518], [6935817, 6936369]]
ENST00000541431	[[6930994, 6931066], [6932633, 6932929], [6933174, 6933582]]	None
ENST00000382315	[[6931033, 6931066], [6934648, 6934838], [6935360, 6935518], [6935817, 6936586]]	[[6934693, 6934838], [6935360, 6935518], [6935817, 6936369]]
ENST00000545321	[[6933659, 6933880], [6934648, 6934838], [6935360, 6935518], [6939022, 6939136]]	[[6933659, 6933880], [6934648, 6934838], [6935360, 6935518], [6939022, 6939136]]
ENST00000542330	[[6935814, 6936019], [6936166, 6936586]]	None
NM_014449	[[6930962, 6931066], [6932633, 6932929], [6934648, 6934838], [6935360, 6935518], [6935817, 6936583]]	[[6932914, 6932929], [6934648, 6934838], [6935360, 6935518], [6935817, 6936369]]
NM_019858	[[6930962, 6931066], [6932633, 6933931], [6934648, 6934838], [6935360, 6935518], [6935817, 6936583]]	[[6933064, 6933931], [6934648, 6934838], [6935360, 6935518], [6935817, 6936369]]

Promoter

Chrom	Start	End	Description
chr12	6930703	6930748	CAGE_peak_2_at_GPR162_5end
chr12	6930782	6930797	CAGE_peak_3_at_GPR162_5end
chr12	6930813	6930830	CAGE_peak_4_at_GPR162_5end
chr12	6930964	6931029	CAGE_peak_1_at_GPR162_5end
chr12	6933751	6933760	CAGE_peak_6_at_GPR162_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I006788	6788596	6793556	2.34	[{'connected_gene': 'CD4', 'score': 571.4}, {'connected_gene': 'LPAR5', 'score': 12.8}, {'connected_gene': 'GPR162', 'score': 12.29}, {'connected_gene': 'P3H3', 'score': 12.27}, {'connected_gene': 'PTPN6', 'score': 11.88}, {'connected_gene': 'ING4', 'score': 11.75}, {'connected_gene': 'PTMS', 'score': 11.52}, {'connected_gene': 'MLF2', 'score': 11.29}, {'connected_gene': 'GNB3', 'score': 11.18}, {'connected_gene': 'PIANP', 'score': 11.11}, {'connected_gene': 'USP5', 'score': 10.97}, {'connected_gene': 'CDCA3', 'score': 10.97}, {'connected_gene': 'ATN1', 'score': 10.68}, {'connected_gene': 'ENSG00000219410', 'score': 10.68}, {'connected_gene': 'ACRBP', 'score': 10.66}, {'connected_gene': 'TPI1', 'score': 10.32}, {'connected_gene': 'LRRC23', 'score': 10.31}, {'connected_gene': 'RPL13P5', 'score': 10.31}, {'connected_gene': 'SPSB2', 'score': 10.29}, {'connected_gene': 'GAPDH', 'score': 5.06}, {'connected_gene': 'CD27', 'score': 3.94}, {'connected_gene': 'TAPBPL', 'score': 3.76}, {'connected_gene': 'IFFO1', 'score': 2.62}, {'connected_gene': 'ZNF384', 'score': 2.38}, {'connected_gene': 'CHD4', 'score': 1.34}]
chr12	GH12I006784	6784248	6787581	0.97	[{'connected_gene': 'CD4', 'score': 566.93}, {'connected_gene': 'RN7SL380P', 'score': 550.77}, {'connected_gene': 'GPR162', 'score': 12.42}, {'connected_gene': 'P3H3', 'score': 12.41}, {'connected_gene': 'ZNF384', 'score': 10.95}, {'connected_gene': 'ENSG00000219410', 'score': 10.6}, {'connected_gene': 'ING4', 'score': 10.6}, {'connected_gene': 'ACRBP', 'score': 10.6}, {'connected_gene': 'PIANP', 'score': 10.54}, {'connected_gene': 'LPAR5', 'score': 10.4}, {'connected_gene': 'ENSG00000255966', 'score': 9.76}, {'connected_gene': 'GAPDH', 'score': 9.76}]
chr12	GH12I006880	6880069	6881674	0.73	[{'connected_gene': 'SPSB2', 'score': 42.66}, {'connected_gene': 'USP5', 'score': 11.73}, {'connected_gene': 'CDCA3', 'score': 11.73}, {'connected_gene': 'GNB3', 'score': 11.55}, {'connected_gene': 'ATN1', 'score': 11.52}, {'connected_gene': 'RNU7-1', 'score': 11.1}, {'connected_gene': 'C12orf57', 'score': 11.1}, {'connected_gene': 'P3H3', 'score': 10.89}, {'connected_gene': 'GPR162', 'score': 10.88}, {'connected_gene': 'CD4', 'score': 10.82}, {'connected_gene': 'EMG1', 'score': 10.25}, {'connected_gene': 'SCARNA12', 'score': 10.25}, {'connected_gene': 'PHB2', 'score': 10.25}, {'connected_gene': 'ACRBP', 'score': 9.96}, {'connected_gene': 'C1RL', 'score': 9.96}, {'connected_gene': 'C1RL-AS1', 'score': 9.96}, {'connected_gene': 'LPAR5', 'score': 9.48}, {'connected_gene': 'DSTNP2', 'score': 0.77}, {'connected_gene': 'LRRC23', 'score': 0.44}, {'connected_gene': 'RPL13P5', 'score': 0.44}, {'connected_gene': 'LOC105369632', 'score': 0.44}]
chr12	GH12I006762	6762790	6770018	2.61	[{'connected_gene': 'MLF2', 'score': 557.43}, {'connected_gene': 'PTMS', 'score': 552.92}, {'connected_gene': 'ENSG00000219410', 'score': 31.26}, {'connected_gene': 'ZNF384', 'score': 30.44}, {'connected_gene': 'CHD4', 'score': 28.54}, {'connected_gene': 'NCAPD2', 'score': 25.5}, {'connected_gene': 'EMG1', 'score': 21.1}, {'connected_gene': 'ENSG00000247853', 'score': 16.43}, {'connected_gene': 'PTPN6', 'score': 15.97}, {'connected_gene': 'SPSB2', 'score': 14.0}, {'connected_gene': 'GDF3', 'score': 11.46}, {'connected_gene': 'TNFRSF1A', 'score': 11.03}, {'connected_gene': 'C12orf57', 'score': 10.83}, {'connected_gene': 'C1RL-AS1', 'score': 10.71}, {'connected_gene': 'ENSG00000256967', 'score': 10.49}, {'connected_gene': 'PHB2', 'score': 10.44}, {'connected_gene': 'SCARNA12', 'score': 10.2}, {'connected_gene': 'P3H3', 'score': 10.16}, {'connected_gene': 'NOP2', 'score': 10.13}, {'connected_gene': 'LTBR', 'score': 10.02}, {'connected_gene': 'C1S', 'score': 9.84}, {'connected_gene': 'ENSG00000269892', 'score': 6.4}, {'connected_gene': 'COPS7A', 'score': 5.73}, {'connected_gene': 'ATN1', 'score': 2.51}, {'connected_gene': 'ENO2', 'score': 2.4}, {'connected_gene': 'PIANP', 'score': 2.05}, {'connected_gene': 'GPR162', 'score': 1.91}, {'connected_gene': 'CLSTN3', 'score': 1.27}]
chr12	GH12I006734	6734815	6734964	0.31	[{'connected_gene': 'PTMS', 'score': 12.61}, {'connected_gene': 'MLF2', 'score': 12.61}, {'connected_gene': 'LAG3', 'score': 12.6}, {'connected_gene': 'CD4', 'score': 11.58}, {'connected_gene': 'GPR162', 'score': 11.52}, {'connected_gene': 'P3H3', 'score': 11.51}, {'connected_gene': 'ENSG00000219410', 'score': 11.08}, {'connected_gene': 'ING4', 'score': 11.08}, {'connected_gene': 'ACRBP', 'score': 11.05}, {'connected_gene': 'CHD4', 'score': 10.96}, {'connected_gene': 'LPAR5', 'score': 10.72}, {'connected_gene': 'USP5', 'score': 10.64}, {'connected_gene': 'LRRC23', 'score': 10.63}, {'connected_gene': 'RPL13P5', 'score': 10.63}, {'connected_gene': 'TPI1', 'score': 10.63}, {'connected_gene': 'SPSB2', 'score': 10.61}, {'connected_gene': 'NOP2', 'score': 10.32}, {'connected_gene': 'IFFO1', 'score': 10.32}, {'connected_gene': 'ENSG00000269892', 'score': 0.44}, {'connected_gene': 'COPS7A', 'score': 0.39}]
chr12	GH12I006735	6735275	6736420	0.97	[{'connected_gene': 'PTMS', 'score': 12.63}, {'connected_gene': 'MLF2', 'score': 12.61}, {'connected_gene': 'LAG3', 'score': 12.6}, {'connected_gene': 'CD4', 'score': 11.58}, {'connected_gene': 'GPR162', 'score': 11.52}, {'connected_gene': 'P3H3', 'score': 11.51}, {'connected_gene': 'ENSG00000219410', 'score': 11.08}, {'connected_gene': 'ING4', 'score': 11.08}, {'connected_gene': 'ACRBP', 'score': 11.05}, {'connected_gene': 'CHD4', 'score': 10.96}, {'connected_gene': 'LPAR5', 'score': 10.72}, {'connected_gene': 'USP5', 'score': 10.64}, {'connected_gene': 'LRRC23', 'score': 10.63}, {'connected_gene': 'RPL13P5', 'score': 10.63}, {'connected_gene': 'TPI1', 'score': 10.63}, {'connected_gene': 'SPSB2', 'score': 10.61}, {'connected_gene': 'NOP2', 'score': 10.32}, {'connected_gene': 'IFFO1', 'score': 10.32}, {'connected_gene': 'COPS7A', 'score': 6.27}, {'connected_gene': 'ENSG00000269892', 'score': 0.44}]
chr12	GH12I006722	6722881	6725224	2.12	[{'connected_gene': 'COPS7A', 'score': 558.02}, {'connected_gene': 'ENSG00000270068', 'score': 550.77}, {'connected_gene': 'ENSG00000219410', 'score': 35.01}, {'connected_gene': 'CHD4', 'score': 31.73}, {'connected_gene': 'ZNF384', 'score': 31.66}, {'connected_gene': 'NOP2', 'score': 25.83}, {'connected_gene': 'ATN1', 'score': 20.21}, {'connected_gene': 'ENSG00000247853', 'score': 18.02}, {'connected_gene': 'NCAPD2', 'score': 13.91}, {'connected_gene': 'GNB3', 'score': 12.82}, {'connected_gene': 'SPSB2', 'score': 11.74}, {'connected_gene': 'CD4', 'score': 11.69}, {'connected_gene': 'GPR162', 'score': 11.63}, {'connected_gene': 'P3H3', 'score': 11.63}, {'connected_gene': 'SCARNA12', 'score': 11.54}, {'connected_gene': 'ING4', 'score': 11.43}, {'connected_gene': 'ACRBP', 'score': 11.22}, {'connected_gene': 'LPAR5', 'score': 11.1}, {'connected_gene': 'LAG3', 'score': 10.92}, {'connected_gene': 'ENSG00000256967', 'score': 10.57}, {'connected_gene': 'IFFO1', 'score': 10.46}, {'connected_gene': 'MRPL51', 'score': 5.23}, {'connected_gene': 'ENSG00000269892', 'score': 0.37}]
chr12	GH12I006821	6818895	6819024	0.58	[{'connected_gene': 'GPR162', 'score': 0.77}, {'connected_gene': 'CD4', 'score': 0.29}]
chr12	GH12I006819	6819155	6819244	0.51	[{'connected_gene': 'GPR162', 'score': 0.77}, {'connected_gene': 'CD4', 'score': 0.29}]
chr12	GH12I006822	6818635	6818804	0.63	[{'connected_gene': 'GPR162', 'score': 0.77}, {'connected_gene': 'CD4', 'score': 0.29}]
chr12	GH12I006818	6818375	6818604	0.72	[{'connected_gene': 'GPR162', 'score': 0.77}, {'connected_gene': 'CD4', 'score': 0.29}]
chr12	GH12I006820	6820295	6822969	1.99	[{'connected_gene': 'GPR162', 'score': 550.77}, {'connected_gene': 'CHD4', 'score': 13.53}, {'connected_gene': 'ZNF384', 'score': 11.65}, {'connected_gene': 'EMG1', 'score': 5.34}, {'connected_gene': 'C1RL', 'score': 4.57}, {'connected_gene': 'P3H3', 'score': 0.44}, {'connected_gene': 'CD4', 'score': 0.29}]
chr12	GH12I006777	6777536	6780423	1.46	[{'connected_gene': 'GPR162', 'score': 12.41}, {'connected_gene': 'P3H3', 'score': 12.39}, {'connected_gene': 'EMG1', 'score': 11.33}, {'connected_gene': 'ZNF384', 'score': 10.96}, {'connected_gene': 'ENSG00000219410', 'score': 10.82}, {'connected_gene': 'ING4', 'score': 10.82}, {'connected_gene': 'PIANP', 'score': 10.8}, {'connected_gene': 'NOP2', 'score': 10.75}, {'connected_gene': 'ACRBP', 'score': 10.65}, {'connected_gene': 'LPAR5', 'score': 10.65}, {'connected_gene': 'NCAPD2', 'score': 10.17}, {'connected_gene': 'ENSG00000255966', 'score': 9.76}, {'connected_gene': 'GAPDH', 'score': 9.76}, {'connected_gene': 'GC12M006781', 'score': 0.77}, {'connected_gene': 'LAG3', 'score': 0.44}]
chr12	GH12I006546	6546780	6557050	2.5	[{'connected_gene': 'IFFO1', 'score': 560.93}, {'connected_gene': 'CHD4', 'score': 26.4}, {'connected_gene': 'ENSG00000247853', 'score': 24.58}, {'connected_gene': 'ENSG00000219410', 'score': 23.86}, {'connected_gene': 'TAPBPL', 'score': 21.56}, {'connected_gene': 'ATN1', 'score': 19.18}, {'connected_gene': 'VAMP1', 'score': 16.76}, {'connected_gene': 'ZNF384', 'score': 15.38}, {'connected_gene': 'SCARNA11', 'score': 12.04}, {'connected_gene': 'SCARNA10', 'score': 11.49}, {'connected_gene': 'NCAPD2', 'score': 11.45}, {'connected_gene': 'NOP2', 'score': 10.48}, {'connected_gene': 'EMG1', 'score': 10.46}, {'connected_gene': 'ACRBP', 'score': 10.41}, {'connected_gene': 'ING4', 'score': 10.39}, {'connected_gene': 'P3H3', 'score': 10.16}, {'connected_gene': 'SCARNA12', 'score': 9.91}, {'connected_gene': 'LPAR5', 'score': 9.84}, {'connected_gene': 'GPR162', 'score': 2.67}, {'connected_gene': 'PIANP', 'score': 2.13}, {'connected_gene': 'ENO2', 'score': 1.16}, {'connected_gene': 'ENSG00000245667', 'score': 0.44}]
chr12	GH12I006610	6610796	6616199	1.73	[{'connected_gene': 'LOC105369631', 'score': 550.77}, {'connected_gene': 'ZNF384', 'score': 21.61}, {'connected_gene': 'ENSG00000219410', 'score': 20.61}, {'connected_gene': 'ENSG00000247853', 'score': 16.64}, {'connected_gene': 'CHD4', 'score': 15.98}, {'connected_gene': 'NCAPD2', 'score': 15.82}, {'connected_gene': 'SPSB2', 'score': 13.94}, {'connected_gene': 'LOC100419928', 'score': 12.69}, {'connected_gene': 'TNFRSF1A', 'score': 11.04}, {'connected_gene': 'EMG1', 'score': 10.91}, {'connected_gene': 'C1RL-AS1', 'score': 10.7}, {'connected_gene': 'ENSG00000256967', 'score': 10.46}, {'connected_gene': 'NOP2', 'score': 10.31}, {'connected_gene': 'SCARNA12', 'score': 10.17}, {'connected_gene': 'LTBR', 'score': 10.04}, {'connected_gene': 'PIANP', 'score': 2.11}, {'connected_gene': 'GPR162', 'score': 2.1}, {'connected_gene': 'ENO2', 'score': 1.77}]
chr12	GH12I006824	6824946	6826397	1.24	[{'connected_gene': 'P3H3', 'score': 0.77}, {'connected_gene': 'GPR162', 'score': 0.77}]
chr12	GH12I006826	6826830	6830565	2.24	[{'connected_gene': 'P3H3', 'score': 577.34}, {'connected_gene': 'ZNF384', 'score': 44.78}, {'connected_gene': 'ENSG00000219410', 'score': 40.9}, {'connected_gene': 'CHD4', 'score': 39.74}, {'connected_gene': 'ENSG00000247853', 'score': 35.22}, {'connected_gene': 'NCAPD2', 'score': 35.18}, {'connected_gene': 'NOP2', 'score': 31.09}, {'connected_gene': 'ATN1', 'score': 25.38}, {'connected_gene': 'SPSB2', 'score': 24.05}, {'connected_gene': 'EMG1', 'score': 23.74}, {'connected_gene': 'SCARNA12', 'score': 23.19}, {'connected_gene': 'ENSG00000256967', 'score': 21.8}, {'connected_gene': 'C1RL-AS1', 'score': 20.87}, {'connected_gene': 'ING4', 'score': 12.94}, {'connected_gene': 'LAG3', 'score': 12.47}, {'connected_gene': 'GNB3', 'score': 12.19}, {'connected_gene': 'GDF3', 'score': 11.46}, {'connected_gene': 'LRRC23', 'score': 10.2}, {'connected_gene': 'C12orf57', 'score': 10.19}, {'connected_gene': 'RPL13P5', 'score': 9.91}, {'connected_gene': 'ENSG00000272173', 'score': 5.01}, {'connected_gene': 'GPR162', 'score': 0.44}, {'connected_gene': 'GC12M006839', 'score': 0.39}]
chr12	GH12I006780	6780545	6781188	0.2	[{'connected_gene': 'GC12M006781', 'score': 550.77}, {'connected_gene': 'GPR162', 'score': 12.41}, {'connected_gene': 'P3H3', 'score': 12.39}, {'connected_gene': 'ZNF384', 'score': 10.95}, {'connected_gene': 'ENSG00000219410', 'score': 10.6}, {'connected_gene': 'ING4', 'score': 10.6}, {'connected_gene': 'ACRBP', 'score': 10.59}, {'connected_gene': 'PIANP', 'score': 10.55}, {'connected_gene': 'LPAR5', 'score': 10.4}, {'connected_gene': 'ENSG00000255966', 'score': 9.76}, {'connected_gene': 'GAPDH', 'score': 9.76}, {'connected_gene': 'LAG3', 'score': 0.44}]