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
ENST00000422785	[[6953956, 6956067], [6958728, 6959022], [6959630, 6959760], [6959996, 6960173], [6960385, 6960433]]	[[6955951, 6956067], [6958728, 6959022], [6959630, 6959760], [6959996, 6960116]]
ENST00000604599	[[6953962, 6956067], [6957224, 6958036]]	None
ENST00000603043	[[6954022, 6955531], [6955888, 6956067], [6957224, 6957531]]	None
ENST00000538862	[[6957972, 6958362], [6958486, 6958593], [6958728, 6959022], [6959630, 6959760], [6959996, 6960173], [6960385, 6961230]]	[[6958206, 6958362], [6958486, 6958593], [6958728, 6959022], [6959630, 6959760], [6959996, 6960116]]
ENST00000229265	[[6957979, 6958362], [6958486, 6958593], [6958728, 6958947], [6959630, 6959760], [6959996, 6960173], [6960385, 6960416]]	[[6958206, 6958362], [6958486, 6958593], [6958728, 6958947], [6959630, 6959760], [6959996, 6960116]]
ENST00000535406	[[6957992, 6958362], [6958486, 6958593], [6958728, 6959022], [6959630, 6959760], [6959996, 6960422]]	[[6958206, 6958362], [6958486, 6958593], [6958728, 6959022], [6959630, 6959760], [6959996, 6960116]]
ENST00000536241	[[6957992, 6958362], [6958486, 6959022], [6959630, 6960173], [6960385, 6960426]]	None
ENST00000544610	[[6957995, 6958362], [6958714, 6958971]]	None
ENST00000540683	[[6958006, 6958362], [6958728, 6959022], [6959630, 6959760], [6959996, 6960173], [6960385, 6960413]]	[[6958357, 6958362], [6958728, 6959022], [6959630, 6959760], [6959996, 6960116]]
ENST00000545368	[[6958238, 6958362], [6958728, 6959022], [6959630, 6959760], [6960385, 6960456]]	None
ENST00000535871	[[6958317, 6958362], [6958486, 6958577], [6958728, 6959022], [6959630, 6959654]]	None
ENST00000446553	[[6959362, 6959760], [6959996, 6960173], [6960385, 6960456]]	None
NM_001297603	[[6955888, 6956067], [6958728, 6959022], [6959630, 6959760], [6959996, 6960173], [6960385, 6961094]]	[[6955951, 6956067], [6958728, 6959022], [6959630, 6959760], [6959996, 6960116]]
NM_031299	[[6957971, 6958362], [6958486, 6958593], [6958728, 6959022], [6959630, 6959760], [6959996, 6960173], [6960385, 6961094]]	[[6958206, 6958362], [6958486, 6958593], [6958728, 6959022], [6959630, 6959760], [6959996, 6960116]]
NR_123727	[[6957971, 6958362], [6958486, 6958577], [6958728, 6959022], [6959630, 6959760], [6959996, 6960173], [6960385, 6961094]]	None
NM_001297604	[[6957971, 6958362], [6958728, 6959022], [6959630, 6959760], [6959996, 6960173], [6960385, 6961094]]	[[6958357, 6958362], [6958728, 6959022], [6959630, 6959760], [6959996, 6960116]]
NM_001297602	[[6957971, 6958362], [6958486, 6958593], [6958728, 6958947], [6959630, 6959760], [6959996, 6960173], [6960385, 6961094]]	[[6958206, 6958362], [6958486, 6958593], [6958728, 6958947], [6959630, 6959760], [6959996, 6960116]]
NR_138531	[[6957971, 6958362], [6958486, 6958577], [6958728, 6959022], [6959630, 6959760], [6960385, 6961094]]	None
NM_001331019	[[6957971, 6958362], [6958728, 6959022], [6959630, 6959760], [6960385, 6961094]]	[[6958357, 6958362], [6958728, 6959022], [6959630, 6959649]]

Promoter

Chrom	Start	End	Description
chr12	6960084	6960098	CAGE_peak_6_at_CDCA3_5end
chr12	6960113	6960124	CAGE_peak_8_at_CDCA3_5end
chr12	6960128	6960147	CAGE_peak_5_at_CDCA3_5end
chr12	6960159	6960181	CAGE_peak_3_at_CDCA3_5end
chr12	6960407	6960464	CAGE_peak_1_at_CDCA3_5end
chr12	6961050	6961096	CAGE_peak_2_at_CDCA3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I006442	6442487	6448504	1.72	[{'connected_gene': 'CD27', 'score': 550.77}, {'connected_gene': 'CD27-AS1', 'score': 23.46}, {'connected_gene': 'TAPBPL', 'score': 16.49}, {'connected_gene': 'ENSG00000255966', 'score': 11.55}, {'connected_gene': 'GAPDH', 'score': 11.55}, {'connected_gene': 'VAMP1', 'score': 11.46}, {'connected_gene': 'TNFRSF1A', 'score': 11.18}, {'connected_gene': 'NCAPD2', 'score': 11.1}, {'connected_gene': 'SCARNA10', 'score': 11.06}, {'connected_gene': 'IFFO1', 'score': 10.59}, {'connected_gene': 'NOP2', 'score': 10.4}, {'connected_gene': 'CHD4', 'score': 10.37}, {'connected_gene': 'LTBR', 'score': 5.3}, {'connected_gene': 'CDCA3', 'score': 4.41}]
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	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	GH12I006866	6866005	6874482	2.28	[{'connected_gene': 'SPSB2', 'score': 601.36}, {'connected_gene': 'TPI1', 'score': 556.22}, {'connected_gene': 'PIR60823', 'score': 550.77}, {'connected_gene': 'ZNF384', 'score': 40.99}, {'connected_gene': 'ING4', 'score': 36.34}, {'connected_gene': 'ENSG00000219410', 'score': 35.65}, {'connected_gene': 'ATN1', 'score': 25.37}, {'connected_gene': 'ENSG00000247853', 'score': 24.31}, {'connected_gene': 'P3H3', 'score': 20.02}, {'connected_gene': 'CHD4', 'score': 13.61}, {'connected_gene': 'LOC100419928', 'score': 12.69}, {'connected_gene': 'NCAPD2', 'score': 12.37}, {'connected_gene': 'GNB3', 'score': 12.09}, {'connected_gene': 'ENSG00000256967', 'score': 10.07}, {'connected_gene': 'LRRC23', 'score': 7.62}, {'connected_gene': 'CDCA3', 'score': 6.37}, {'connected_gene': 'EMG1', 'score': 6.16}, {'connected_gene': 'GC12P006867', 'score': 0.77}, {'connected_gene': 'RPL13P5', 'score': 0.77}, {'connected_gene': 'GC12P006869', 'score': 0.77}, {'connected_gene': 'USP5', 'score': 0.37}]
chr12	GH12I006885	6885570	6888131	0.43	[{'connected_gene': 'SPSB2', 'score': 17.5}, {'connected_gene': 'ENO2', 'score': 12.85}, {'connected_gene': 'ATN1', 'score': 12.81}, {'connected_gene': 'USP5', 'score': 12.1}, {'connected_gene': 'CDCA3', 'score': 12.1}, {'connected_gene': 'C12orf57', 'score': 11.37}, {'connected_gene': 'RNU7-1', 'score': 11.37}, {'connected_gene': 'EMG1', 'score': 10.66}, {'connected_gene': 'SCARNA12', 'score': 10.66}, {'connected_gene': 'PHB2', 'score': 10.66}, {'connected_gene': 'DSTNP2', 'score': 0.77}, {'connected_gene': 'LOC105369632', 'score': 0.77}, {'connected_gene': 'LRRC23', 'score': 0.39}]
chr12	GH12I006849	6849741	6855154	2.52	[{'connected_gene': 'CDCA3', 'score': 557.53}, {'connected_gene': 'USP5', 'score': 552.86}, {'connected_gene': 'SPSB2', 'score': 44.45}, {'connected_gene': 'ZNF384', 'score': 43.46}, {'connected_gene': 'NOP2', 'score': 25.83}, {'connected_gene': 'ENSG00000247853', 'score': 23.64}, {'connected_gene': 'CHD4', 'score': 23.64}, {'connected_gene': 'ENSG00000219410', 'score': 16.17}, {'connected_gene': 'SCARNA12', 'score': 13.96}, {'connected_gene': 'ENSG00000256967', 'score': 13.21}, {'connected_gene': 'LAG3', 'score': 12.25}, {'connected_gene': 'C1RL-AS1', 'score': 12.08}, {'connected_gene': 'NCAPD2', 'score': 11.99}, {'connected_gene': 'TNFRSF1A', 'score': 11.01}, {'connected_gene': 'EMG1', 'score': 10.46}, {'connected_gene': 'TPI1', 'score': 6.21}, {'connected_gene': 'P3H3', 'score': 1.8}, {'connected_gene': 'COPS7A', 'score': 1.71}, {'connected_gene': 'GAPDH', 'score': 1.4}]
chr12	GH12I007089	7089394	7093366	1.83	[{'connected_gene': 'C1R', 'score': 550.77}, {'connected_gene': 'ENSG00000256967', 'score': 21.1}, {'connected_gene': 'PEX5', 'score': 8.57}, {'connected_gene': 'CLSTN3', 'score': 7.08}, {'connected_gene': 'C1RL-AS1', 'score': 6.74}, {'connected_gene': 'ACRBP', 'score': 5.69}, {'connected_gene': 'CDCA3', 'score': 5.11}, {'connected_gene': 'GC12M007087', 'score': 0.77}, {'connected_gene': 'C1RL', 'score': 0.37}]
chr12	GH12I006429	6429730	6432002	1.44	[{'connected_gene': 'CD27-AS1', 'score': 6.79}, {'connected_gene': 'CDCA3', 'score': 5.62}, {'connected_gene': 'SRP14P1', 'score': 0.44}, {'connected_gene': 'RPL31P10', 'score': 0.34}]
chr12	GH12I006922	6922178	6923200	0.83	[{'connected_gene': 'ATN1', 'score': 550.77}, {'connected_gene': 'CDCA3', 'score': 7.1}, {'connected_gene': 'LRRC23', 'score': 4.7}, {'connected_gene': 'ENO2', 'score': 0.44}]