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
ENST00000540667	[[6874681, 6874804], [6878768, 6878840], [6879086, 6879165], [6879322, 6879384], [6879557, 6880041]]	None
ENST00000389462	[[6875540, 6875916], [6878768, 6878840], [6879009, 6879165], [6879322, 6879384], [6879557, 6879664]]	[[6875871, 6875916], [6878768, 6878840], [6879009, 6879165], [6879322, 6879364]]
ENST00000540874	[[6875541, 6875916], [6878768, 6878840], [6879009, 6879063]]	[[6875871, 6875916], [6878768, 6878840], [6879009, 6879063]]
ENST00000309083	[[6875542, 6875916], [6878768, 6878840], [6879086, 6879165], [6879322, 6879384], [6879557, 6880109]]	[[6875871, 6875916], [6878768, 6878840], [6879086, 6879165], [6879322, 6879384], [6879557, 6879608]]
ENST00000540828	[[6875896, 6875916], [6878768, 6878840], [6879086, 6879165], [6879322, 6879384], [6879557, 6879968]]	None
ENST00000538057	[[6878218, 6878343], [6878768, 6878840], [6879009, 6879165], [6879322, 6879384], [6879557, 6880116]]	None
NM_002824	[[6875482, 6875916], [6878768, 6878840], [6879086, 6879165], [6879322, 6879384], [6879557, 6880118]]	[[6875871, 6875916], [6878768, 6878840], [6879086, 6879165], [6879322, 6879384], [6879557, 6879608]]
NM_001330333	[[6875482, 6875916], [6878768, 6878840], [6879009, 6879165], [6879322, 6879384], [6879557, 6880118]]	[[6875871, 6875916], [6878768, 6878840], [6879009, 6879165], [6879322, 6879364]]

Promoter

Chrom	Start	End	Description
chr12	6874654	6874678	CAGE_peak_17_at_PTMS_5end
chr12	6875310	6875322	CAGE_peak_3_at_PTMS_5end
chr12	6875496	6875510	CAGE_peak_7_at_PTMS_5end
chr12	6875519	6875536	CAGE_peak_1_at_PTMS_5end
chr12	6875573	6875583	CAGE_peak_9_at_PTMS_5end
chr12	6875609	6875623	CAGE_peak_4_at_PTMS_5end
chr12	6875667	6875673	CAGE_peak_8_at_PTMS_5end
chr12	6875684	6875720	CAGE_peak_2_at_PTMS_5end
chr12	6879079	6879124	CAGE_peak_10_at_PTMS_5end
chr12	6879574	6879585	CAGE_peak_20_at_PTMS_5end
chr12	6879591	6879611	CAGE_peak_13_at_PTMS_5end
chr12	6879623	6879643	CAGE_peak_15_at_PTMS_5end
chr12	6879649	6879700	CAGE_peak_6_at_PTMS_5end
chr12	6879706	6879817	CAGE_peak_5_at_PTMS_5end
chr12	6879821	6879862	CAGE_peak_11_at_PTMS_5end
chr12	6879863	6879885	CAGE_peak_14_at_PTMS_5end
chr12	6879903	6879927	CAGE_peak_12_at_PTMS_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	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	GH12I006751	6751665	6754644	2.08	[{'connected_gene': 'MLF2', 'score': 563.15}, {'connected_gene': 'CHD4', 'score': 43.88}, {'connected_gene': 'ATN1', 'score': 41.95}, {'connected_gene': 'ZNF384', 'score': 38.87}, {'connected_gene': 'ENSG00000247853', 'score': 26.43}, {'connected_gene': 'ENSG00000219410', 'score': 25.73}, {'connected_gene': 'GNB3', 'score': 20.78}, {'connected_gene': 'P3H3', 'score': 19.51}, {'connected_gene': 'NOP2', 'score': 19.44}, {'connected_gene': 'ENSG00000272173', 'score': 18.45}, {'connected_gene': 'LRRC23', 'score': 10.64}, {'connected_gene': 'EMG1', 'score': 10.49}, {'connected_gene': 'PEX5', 'score': 10.3}, {'connected_gene': 'GDF3', 'score': 10.0}, {'connected_gene': 'SCARNA12', 'score': 9.94}, {'connected_gene': 'ING4', 'score': 9.78}, {'connected_gene': 'COPS7A', 'score': 7.38}, {'connected_gene': 'ENSG00000269892', 'score': 6.07}, {'connected_gene': 'GC12P006747', 'score': 0.44}, {'connected_gene': 'PTMS', 'score': 0.39}]
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	GH12I006770	6770247	6770802	0.31	[{'connected_gene': 'LAG3', 'score': 550.77}, {'connected_gene': 'MLF2', 'score': 0.77}, {'connected_gene': 'PTMS', 'score': 0.44}]
chr12	GH12I006923	6923732	6930569	2.54	[{'connected_gene': 'ATN1', 'score': 557.39}, {'connected_gene': 'ZNF384', 'score': 48.77}, {'connected_gene': 'LRRC23', 'score': 40.16}, {'connected_gene': 'CHD4', 'score': 38.87}, {'connected_gene': 'ENSG00000219410', 'score': 37.11}, {'connected_gene': 'ENSG00000247853', 'score': 34.12}, {'connected_gene': 'SCARNA12', 'score': 30.39}, {'connected_gene': 'EMG1', 'score': 25.25}, {'connected_gene': 'PHB2', 'score': 21.46}, {'connected_gene': 'RPL13P5', 'score': 20.8}, {'connected_gene': 'NCAPD2', 'score': 14.09}, {'connected_gene': 'USP5', 'score': 13.17}, {'connected_gene': 'SPSB2', 'score': 13.09}, {'connected_gene': 'NOP2', 'score': 12.74}, {'connected_gene': 'MIR200CHG', 'score': 11.79}, {'connected_gene': 'MIR200C', 'score': 11.79}, {'connected_gene': 'MIR141', 'score': 11.79}, {'connected_gene': 'TPI1', 'score': 11.13}, {'connected_gene': 'C1S', 'score': 10.95}, {'connected_gene': 'GDF3', 'score': 10.89}, {'connected_gene': 'C1R', 'score': 10.32}, {'connected_gene': 'LAG3', 'score': 10.12}, {'connected_gene': 'C1RL-AS1', 'score': 10.08}, {'connected_gene': 'RBP5', 'score': 5.41}, {'connected_gene': 'PTMS', 'score': 2.23}, {'connected_gene': 'ACSM4', 'score': 1.37}, {'connected_gene': 'C12orf57', 'score': 0.37}]