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
ENST00000301019	[[88869620, 88870467], [88870952, 88871075], [88871169, 88871306], [88871847, 88872045], [88872131, 88872277], [88872428, 88872529], [88872893, 88873082], [88873458, 88873611], [88873688, 88873890], [88874522, 88875666]]	[[88870239, 88870467], [88870952, 88871075], [88871169, 88871306], [88871847, 88872045], [88872131, 88872277], [88872428, 88872529], [88872893, 88873082], [88873458, 88873611], [88873688, 88873890], [88874522, 88874686]]
ENST00000562747	[[88871018, 88871075], [88871169, 88871306], [88871847, 88872045], [88872131, 88872277], [88872428, 88872625]]	None
ENST00000569140	[[88872175, 88872277], [88872428, 88872529], [88872893, 88873046], [88873458, 88873611], [88873688, 88873750]]	[[88872175, 88872277], [88872428, 88872529], [88872893, 88873046], [88873458, 88873611], [88873688, 88873750]]
NM_030928	[[88870185, 88870467], [88870952, 88871075], [88871169, 88871306], [88871847, 88872045], [88872131, 88872277], [88872428, 88872529], [88872893, 88873082], [88873458, 88873611], [88873688, 88873890], [88874522, 88875666]]	[[88870239, 88870467], [88870952, 88871075], [88871169, 88871306], [88871847, 88872045], [88872131, 88872277], [88872428, 88872529], [88872893, 88873082], [88873458, 88873611], [88873688, 88873890], [88874522, 88874686]]

Promoter

Chrom	Start	End	Description
chr16	88870184	88870235	CAGE_peak_1_at_CDT1_5end
chr16	88871135	88871148	CAGE_peak_8_at_CDT1_5end
chr16	88871163	88871187	CAGE_peak_4_at_CDT1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I088779	88779426	88786087	2.56	[{'connected_gene': 'PIEZO1', 'score': 556.55}, {'connected_gene': 'APRT', 'score': 22.12}, {'connected_gene': 'ANKRD11', 'score': 21.7}, {'connected_gene': 'SNORD68', 'score': 12.56}, {'connected_gene': 'CDT1', 'score': 12.18}, {'connected_gene': 'GALNS', 'score': 11.31}, {'connected_gene': 'TRAPPC2L', 'score': 11.31}, {'connected_gene': 'ENSG00000259877', 'score': 11.3}, {'connected_gene': 'RPL13', 'score': 11.05}, {'connected_gene': 'CTU2', 'score': 10.89}, {'connected_gene': 'ZC3H18', 'score': 10.53}, {'connected_gene': 'ACSF3', 'score': 10.37}, {'connected_gene': 'CHMP1A', 'score': 10.19}, {'connected_gene': 'BANP', 'score': 9.84}, {'connected_gene': 'LINC00304', 'score': 9.73}, {'connected_gene': 'RNF166', 'score': 8.36}, {'connected_gene': 'ENSG00000260121', 'score': 6.84}, {'connected_gene': 'CYBA', 'score': 6.83}, {'connected_gene': 'CDK10', 'score': 6.78}, {'connected_gene': 'LOC100129697', 'score': 4.93}, {'connected_gene': 'SNAI3', 'score': 1.51}, {'connected_gene': 'LOC339059', 'score': 0.28}]
chr16	GH16I088796	88796205	88797270	0.49	[{'connected_gene': 'CDT1', 'score': 0.44}, {'connected_gene': 'PIEZO1', 'score': 0.39}]
chr16	GH16I088801	88801397	88808082	2.23	[{'connected_gene': 'CDT1', 'score': 550.77}, {'connected_gene': 'GALNS', 'score': 12.16}, {'connected_gene': 'APRT', 'score': 10.26}, {'connected_gene': 'RNF166', 'score': 5.66}, {'connected_gene': 'SNAI3', 'score': 5.18}, {'connected_gene': 'CDH15', 'score': 4.53}, {'connected_gene': 'PIR39293', 'score': 0.77}]
chr16	GH16I088853	88853249	88853636	0.38	[{'connected_gene': 'APRT', 'score': 12.28}, {'connected_gene': 'CDT1', 'score': 12.25}, {'connected_gene': 'RNF166', 'score': 1.84}, {'connected_gene': 'CBFA2T3', 'score': 1.59}, {'connected_gene': 'SNAI3', 'score': 1.24}, {'connected_gene': 'GALNS', 'score': 0.77}, {'connected_gene': 'TRAPPC2L', 'score': 0.77}, {'connected_gene': 'PIR42461', 'score': 0.31}]
chr16	GH16I088809	88809068	88813486	2.31	[{'connected_gene': 'APRT', 'score': 561.76}, {'connected_gene': 'ENSG00000259877', 'score': 52.86}, {'connected_gene': 'SNORD68', 'score': 37.76}, {'connected_gene': 'GALNS', 'score': 30.9}, {'connected_gene': 'ANKRD11', 'score': 30.21}, {'connected_gene': 'LOC101927863', 'score': 28.59}, {'connected_gene': 'RPL13', 'score': 22.06}, {'connected_gene': 'ENSG00000260121', 'score': 21.2}, {'connected_gene': 'ZC3H18', 'score': 20.84}, {'connected_gene': 'ACSF3', 'score': 20.46}, {'connected_gene': 'CTU2', 'score': 20.26}, {'connected_gene': 'CDK10', 'score': 14.67}, {'connected_gene': 'ENSG00000268218', 'score': 12.99}, {'connected_gene': 'ENSG00000260279', 'score': 10.88}, {'connected_gene': 'SPG7', 'score': 10.77}, {'connected_gene': 'TRAPPC2L', 'score': 10.37}, {'connected_gene': 'BANP', 'score': 10.33}, {'connected_gene': 'LINC00304', 'score': 10.01}, {'connected_gene': 'CDH15', 'score': 4.46}, {'connected_gene': 'PIR39293', 'score': 0.77}, {'connected_gene': 'CDT1', 'score': 0.44}]
chr16	GH16I088854	88854323	88858502	2.25	[{'connected_gene': 'GALNS', 'score': 560.34}, {'connected_gene': 'TRAPPC2L', 'score': 550.77}, {'connected_gene': 'APRT', 'score': 12.28}, {'connected_gene': 'CDT1', 'score': 12.25}, {'connected_gene': 'CYBA', 'score': 7.23}, {'connected_gene': 'RNF166', 'score': 5.99}, {'connected_gene': 'ZC3H18', 'score': 2.11}, {'connected_gene': 'SNAI3', 'score': 1.76}, {'connected_gene': 'CBFA2T3', 'score': 1.64}]
chr16	GH16I088789	88789313	88795747	1.27	[{'connected_gene': 'RNF166', 'score': 6.99}, {'connected_gene': 'PIEZO1', 'score': 5.79}, {'connected_gene': 'CDT1', 'score': 0.39}]
chr16	GH16I088798	88798626	88800929	1.62	[{'connected_gene': 'ENSG00000259877', 'score': 13.99}, {'connected_gene': 'GALNS', 'score': 12.88}, {'connected_gene': 'APRT', 'score': 10.54}, {'connected_gene': 'CBFA2T3', 'score': 4.53}, {'connected_gene': 'ACSF3', 'score': 2.18}, {'connected_gene': 'CDT1', 'score': 0.77}, {'connected_gene': 'PIEZO1', 'score': 0.39}]