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
ENST00000246657	[[38710020, 38712070], [38715144, 38715194], [38721651, 38721724]]	[[38710993, 38712070], [38715144, 38715194], [38721651, 38721661]]
ENST00000579344	[[38710581, 38712070], [38715144, 38715194], [38716930, 38717265]]	[[38710993, 38712070], [38715144, 38715186]]
ENST00000578085	[[38711343, 38712070], [38721651, 38721711]]	[[38711343, 38711941]]
NM_001301718	[[38710020, 38712070], [38715144, 38715194], [38716465, 38716646]]	[[38710993, 38712070], [38715144, 38715186]]
NM_001301716	[[38710020, 38712070], [38715144, 38715194], [38716930, 38717265]]	[[38710993, 38712070], [38715144, 38715186]]
NM_001301717	[[38710020, 38712070], [38715144, 38715194], [38717174, 38717265]]	[[38710993, 38712070], [38715144, 38715186]]
NM_001838	[[38710020, 38712070], [38715144, 38715194], [38721651, 38721736]]	[[38710993, 38712070], [38715144, 38715194], [38721651, 38721661]]
NM_001301714	[[38710020, 38712070], [38721651, 38721736]]	[[38710993, 38711941]]

Promoter

Chrom	Start	End	Description
chr17	38721717	38721730	CAGE_peak_1_at_CCR7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I040088	40088142	40102552	2.8	[{'connected_gene': 'NR1D1', 'score': 552.12}, {'connected_gene': 'CDK12', 'score': 55.71}, {'connected_gene': 'MED1', 'score': 46.52}, {'connected_gene': 'SMARCE1', 'score': 43.23}, {'connected_gene': 'MSL1', 'score': 35.27}, {'connected_gene': 'MED24', 'score': 18.58}, {'connected_gene': 'GSDMA', 'score': 15.4}, {'connected_gene': 'CCR7', 'score': 11.95}, {'connected_gene': 'THRA', 'score': 11.48}, {'connected_gene': 'RPL19', 'score': 10.62}, {'connected_gene': 'SNORD124', 'score': 10.61}, {'connected_gene': 'STARD3', 'score': 10.52}, {'connected_gene': 'TOP2A', 'score': 9.99}, {'connected_gene': 'ENSG00000266208', 'score': 5.99}, {'connected_gene': 'RARA', 'score': 5.19}, {'connected_gene': 'PGAP3', 'score': 5.02}, {'connected_gene': 'KRT24', 'score': 4.11}, {'connected_gene': 'GRB7', 'score': 2.16}, {'connected_gene': 'WIPF2', 'score': 1.49}, {'connected_gene': 'GC17P040082', 'score': 0.39}]
chr17	GH17I040515	40515282	40524858	1.67	[{'connected_gene': 'TOP2A', 'score': 12.88}, {'connected_gene': 'CDC6', 'score': 11.96}, {'connected_gene': 'CCR7', 'score': 11.32}, {'connected_gene': 'IGFBP4', 'score': 11.27}, {'connected_gene': 'RPL23AP75', 'score': 11.26}, {'connected_gene': 'GJD3', 'score': 11.23}, {'connected_gene': 'RARA', 'score': 9.78}, {'connected_gene': 'SMARCE1', 'score': 5.95}, {'connected_gene': 'PPIAP54', 'score': 4.74}, {'connected_gene': 'TNS4', 'score': 4.38}, {'connected_gene': 'KRT24', 'score': 3.49}, {'connected_gene': 'TMEM99', 'score': 1.83}, {'connected_gene': 'LOC105371773', 'score': 0.77}, {'connected_gene': 'ENSG00000266088', 'score': 0.77}, {'connected_gene': 'LOC101059954', 'score': 0.77}]
chr17	GH17I040576	40576229	40576378	0.83	[{'connected_gene': 'TOP2A', 'score': 9.81}, {'connected_gene': 'CCR7', 'score': 0.39}, {'connected_gene': 'ENSG00000279775', 'score': 0.34}]
chr17	GH17I040585	40585462	40586946	0.57	[{'connected_gene': 'SMARCE1', 'score': 13.14}, {'connected_gene': 'TOP2A', 'score': 9.73}, {'connected_gene': 'ENSG00000279775', 'score': 0.39}, {'connected_gene': 'CCR7', 'score': 0.34}]
chr17	GH17I040581	40581008	40583270	1.24	[{'connected_gene': 'SMARCE1', 'score': 13.39}, {'connected_gene': 'TOP2A', 'score': 10.04}, {'connected_gene': 'ENSG00000279775', 'score': 0.37}, {'connected_gene': 'CCR7', 'score': 0.37}]
chr17	GH17I040618	40618737	40620867	1.55	[{'connected_gene': 'SMARCE1', 'score': 34.42}, {'connected_gene': 'RARA', 'score': 4.11}, {'connected_gene': 'CCR7', 'score': 3.28}, {'connected_gene': 'WIPF2', 'score': 1.82}, {'connected_gene': 'GC17M040594', 'score': 0.77}, {'connected_gene': 'PIR34828', 'score': 0.44}]
chr17	GH17I040528	40528730	40544482	1.82	[{'connected_gene': 'SMARCE1', 'score': 25.74}, {'connected_gene': 'IGFBP4', 'score': 22.37}, {'connected_gene': 'MED24', 'score': 19.56}, {'connected_gene': 'CCR7', 'score': 16.91}, {'connected_gene': 'SNORD124', 'score': 16.27}, {'connected_gene': 'RARA', 'score': 12.39}, {'connected_gene': 'TOP2A', 'score': 11.65}, {'connected_gene': 'RPL23AP75', 'score': 11.63}, {'connected_gene': 'CDC6', 'score': 10.25}, {'connected_gene': 'GRB7', 'score': 4.55}, {'connected_gene': 'CASC3', 'score': 1.45}, {'connected_gene': 'GC17P040542', 'score': 0.44}, {'connected_gene': 'LOC101059954', 'score': 0.39}, {'connected_gene': 'GC17M040528', 'score': 0.39}]
chr17	GH17I040601	40601570	40609705	1.55	[{'connected_gene': 'SMARCE1', 'score': 37.86}, {'connected_gene': 'CCR7', 'score': 19.79}, {'connected_gene': 'KRT222', 'score': 10.31}, {'connected_gene': 'RAPGEFL1', 'score': 6.02}, {'connected_gene': 'RARA', 'score': 1.93}, {'connected_gene': 'CASC3', 'score': 1.72}, {'connected_gene': 'KRTAP3-2', 'score': 1.16}, {'connected_gene': 'WIPF2', 'score': 1.14}, {'connected_gene': 'ENSG00000279775', 'score': 0.44}, {'connected_gene': 'GC17M040594', 'score': 0.39}]
chr17	GH17I040306	40306131	40328919	2.72	[{'connected_gene': 'RARA', 'score': 590.34}, {'connected_gene': 'MED1', 'score': 174.74}, {'connected_gene': 'SMARCE1', 'score': 131.66}, {'connected_gene': 'SNORD124', 'score': 126.51}, {'connected_gene': 'CDK12', 'score': 120.93}, {'connected_gene': 'MED24', 'score': 72.11}, {'connected_gene': 'MSL1', 'score': 52.0}, {'connected_gene': 'TMEM99', 'score': 23.68}, {'connected_gene': 'CDC6', 'score': 11.42}, {'connected_gene': 'WIPF2', 'score': 11.12}, {'connected_gene': 'PGAP3', 'score': 10.8}, {'connected_gene': 'TOP2A', 'score': 10.68}, {'connected_gene': 'ENSG00000264968', 'score': 10.29}, {'connected_gene': 'IGFBP4', 'score': 10.16}, {'connected_gene': 'STARD3', 'score': 9.9}, {'connected_gene': 'ENSG00000266208', 'score': 9.52}, {'connected_gene': 'IKZF3', 'score': 9.28}, {'connected_gene': 'KRTAP9-7', 'score': 5.67}, {'connected_gene': 'CCR7', 'score': 4.6}, {'connected_gene': 'RAPGEFL1', 'score': 4.15}, {'connected_gene': 'CASC3', 'score': 2.85}, {'connected_gene': 'ZPBP2', 'score': 1.4}, {'connected_gene': 'GC17P040322', 'score': 0.77}, {'connected_gene': 'GC17M040321', 'score': 0.77}, {'connected_gene': 'GC17M040319', 'score': 0.77}, {'connected_gene': 'GC17M040320', 'score': 0.77}, {'connected_gene': 'LOC105371934', 'score': 0.44}]
chr17	GH17I040446	40446601	40449481	1.65	[{'connected_gene': 'CDK12', 'score': 17.64}, {'connected_gene': 'MED1', 'score': 14.99}, {'connected_gene': 'SMARCE1', 'score': 12.96}, {'connected_gene': 'TOP2A', 'score': 11.5}, {'connected_gene': 'CCR7', 'score': 10.59}, {'connected_gene': 'RARA', 'score': 10.27}, {'connected_gene': 'RARA-AS1', 'score': 5.56}, {'connected_gene': 'ENSG00000266208', 'score': 4.3}, {'connected_gene': 'IGFBP4', 'score': 3.27}, {'connected_gene': 'GJD3', 'score': 1.75}, {'connected_gene': 'GC17P040473', 'score': 0.34}]
chr17	GH17I040422	40422552	40423838	1.03	[{'connected_gene': 'CDK12', 'score': 19.97}, {'connected_gene': 'MED1', 'score': 15.86}, {'connected_gene': 'MSL1', 'score': 12.12}, {'connected_gene': 'GJD3', 'score': 11.78}, {'connected_gene': 'CCR7', 'score': 10.54}, {'connected_gene': 'STARD3', 'score': 10.5}, {'connected_gene': 'SMARCE1', 'score': 10.04}, {'connected_gene': 'RARA', 'score': 9.87}, {'connected_gene': 'GC17M040417', 'score': 0.44}, {'connected_gene': 'GC17M040441', 'score': 0.37}]
chr17	GH17I040442	40442305	40446199	2.5	[{'connected_gene': 'IGFBP4', 'score': 554.16}, {'connected_gene': 'MED1', 'score': 45.1}, {'connected_gene': 'SMARCE1', 'score': 33.6}, {'connected_gene': 'CDK12', 'score': 28.29}, {'connected_gene': 'SNORD124', 'score': 21.21}, {'connected_gene': 'TOP2A', 'score': 11.52}, {'connected_gene': 'CCR7', 'score': 11.16}, {'connected_gene': 'ENSG00000264968', 'score': 10.27}, {'connected_gene': 'RARA', 'score': 10.27}, {'connected_gene': 'ENSG00000266208', 'score': 7.56}, {'connected_gene': 'RARA-AS1', 'score': 7.08}, {'connected_gene': 'GJD3', 'score': 1.94}, {'connected_gene': 'GC17P040473', 'score': 0.31}]
chr17	GH17I040426	40426969	40427118	0.38	[{'connected_gene': 'GJD3', 'score': 11.76}, {'connected_gene': 'CCR7', 'score': 10.55}, {'connected_gene': 'RARA', 'score': 9.86}, {'connected_gene': 'GC17M040417', 'score': 0.44}, {'connected_gene': 'GC17M040441', 'score': 0.39}]
chr17	GH17I040612	40612609	40613815	0.99	[{'connected_gene': 'CCR7', 'score': 2.69}, {'connected_gene': 'CASC3', 'score': 1.61}, {'connected_gene': 'GC17M040594', 'score': 0.77}, {'connected_gene': 'ENSG00000279775', 'score': 0.39}]
chr17	GH17I040546	40546965	40567241	2.35	[{'connected_gene': 'CCR7', 'score': 568.72}, {'connected_gene': 'PIR43413', 'score': 550.77}, {'connected_gene': 'SNORD124', 'score': 23.37}, {'connected_gene': 'SMARCE1', 'score': 12.92}, {'connected_gene': 'TOP2A', 'score': 11.79}, {'connected_gene': 'IGFBP4', 'score': 5.8}, {'connected_gene': 'ENSG00000266088', 'score': 4.86}, {'connected_gene': 'KRTAP3-2', 'score': 4.83}, {'connected_gene': 'KRT34', 'score': 4.54}, {'connected_gene': 'GJD3', 'score': 2.94}, {'connected_gene': 'CASC3', 'score': 2.12}, {'connected_gene': 'KRTAP2-1', 'score': 1.35}, {'connected_gene': 'KRTAP1-5', 'score': 1.33}, {'connected_gene': 'WIPF2', 'score': 1.33}, {'connected_gene': 'MED24', 'score': 1.17}, {'connected_gene': 'GC17P040564', 'score': 0.44}, {'connected_gene': 'GC17M040528', 'score': 0.44}]
chr17	GH17I040624	40623312	40623371	0.51	[{'connected_gene': 'CCR7', 'score': 11.29}, {'connected_gene': 'PIR34828', 'score': 0.77}, {'connected_gene': 'GC17M040594', 'score': 0.44}]
chr17	GH17I040577	40577360	40578375	0.97	[{'connected_gene': 'CCR7', 'score': 0.39}, {'connected_gene': 'ENSG00000279775', 'score': 0.34}]
chr17	GH17I040614	40614305	40618650	1.62	[{'connected_gene': 'GC17M040594', 'score': 550.77}, {'connected_gene': 'SMARCE1', 'score': 34.4}, {'connected_gene': 'RAPGEFL1', 'score': 5.4}, {'connected_gene': 'RARA', 'score': 2.59}, {'connected_gene': 'CCR7', 'score': 2.08}, {'connected_gene': 'WIPF2', 'score': 1.23}, {'connected_gene': 'ENSG00000279775', 'score': 0.37}]
chr17	GH17I040600	40600292	40600759	0.2	[{'connected_gene': 'ENSG00000279775', 'score': 550.77}, {'connected_gene': 'SMARCE1', 'score': 28.89}, {'connected_gene': 'CCR7', 'score': 16.13}, {'connected_gene': 'KRT222', 'score': 10.3}, {'connected_gene': 'KRT28', 'score': 9.49}, {'connected_gene': 'GC17M040594', 'score': 0.37}]
chr17	GH17I040595	40595775	40600078	1.62	[{'connected_gene': 'ENSG00000279775', 'score': 550.77}, {'connected_gene': 'SMARCE1', 'score': 42.57}, {'connected_gene': 'CCR7', 'score': 18.01}, {'connected_gene': 'SNORD124', 'score': 10.43}, {'connected_gene': 'KRT222', 'score': 9.86}, {'connected_gene': 'KRT28', 'score': 9.49}, {'connected_gene': 'RARA', 'score': 4.1}, {'connected_gene': 'WIPF2', 'score': 2.15}, {'connected_gene': 'KRTAP3-2', 'score': 1.55}, {'connected_gene': 'CASC3', 'score': 1.42}, {'connected_gene': 'KRTAP2-1', 'score': 1.25}, {'connected_gene': 'KRTAP2-2', 'score': 1.21}, {'connected_gene': 'GC17M040594', 'score': 0.37}]