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
ENST00000301729	[[2289395, 2290146], [2293046, 2293225], [2293318, 2293440], [2294406, 2294553], [2296859, 2296987], [2301316, 2301430], [2301515, 2301615]]	[[2289979, 2290146], [2293046, 2293225], [2293318, 2293440], [2294406, 2294553], [2296859, 2296987], [2301316, 2301430], [2301515, 2301567]]
ENST00000562238	[[2289895, 2290146], [2293046, 2293225], [2293369, 2293440], [2294406, 2294553], [2296859, 2296987], [2301316, 2301430], [2301515, 2301573]]	[[2289979, 2290146], [2293046, 2293225], [2293369, 2293440], [2294406, 2294553], [2296859, 2296987], [2301316, 2301430], [2301515, 2301567]]
ENST00000570258	[[2289940, 2290146], [2293046, 2293225], [2293318, 2293440], [2294406, 2294553], [2296859, 2296987], [2301316, 2301430], [2301685, 2302301]]	[[2289979, 2290146], [2293046, 2293225], [2293318, 2293440], [2294406, 2294553], [2296859, 2296976]]
ENST00000566379	[[2290037, 2290146], [2293046, 2293225], [2293318, 2293440], [2294406, 2294553], [2296859, 2296987], [2301316, 2301592]]	[[2290037, 2290146], [2293046, 2293225], [2293318, 2293440], [2294406, 2294553], [2296859, 2296976]]
ENST00000563447	[[2292415, 2293225], [2293318, 2293440], [2294406, 2294439]]	None
ENST00000563029	[[2293169, 2293440], [2294406, 2294553], [2296859, 2296987], [2301316, 2301546]]	None
ENST00000561688	[[2294138, 2294553], [2296859, 2296987], [2301316, 2301430], [2301515, 2301563]]	None
NM_001919	[[2289872, 2290146], [2293046, 2293225], [2293318, 2293440], [2294406, 2294553], [2296859, 2296987], [2301316, 2301430], [2301515, 2301602]]	[[2289979, 2290146], [2293046, 2293225], [2293318, 2293440], [2294406, 2294553], [2296859, 2296987], [2301316, 2301430], [2301515, 2301567]]
NM_001178029	[[2289872, 2290146], [2293046, 2293225], [2293369, 2293440], [2294406, 2294553], [2296859, 2296987], [2301316, 2301430], [2301515, 2301602]]	[[2289979, 2290146], [2293046, 2293225], [2293369, 2293440], [2294406, 2294553], [2296859, 2296987], [2301316, 2301430], [2301515, 2301567]]

Promoter

Chrom	Start	End	Description
chr16	2301563	2301607	CAGE_peak_1_at_ECI1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I002003	2003330	2011112	2.8	[{'connected_gene': 'ZNF598', 'score': 580.63}, {'connected_gene': 'CRAMP1', 'score': 41.32}, {'connected_gene': 'ENSG00000261505', 'score': 39.54}, {'connected_gene': 'TBL3', 'score': 37.42}, {'connected_gene': 'ENSG00000255513', 'score': 35.74}, {'connected_gene': 'SRRM2', 'score': 31.06}, {'connected_gene': 'ENSG00000260051', 'score': 29.71}, {'connected_gene': 'SNORA64', 'score': 28.37}, {'connected_gene': 'TELO2', 'score': 26.49}, {'connected_gene': 'ENSG00000260954', 'score': 25.22}, {'connected_gene': 'E4F1', 'score': 24.19}, {'connected_gene': 'TRAF7', 'score': 23.39}, {'connected_gene': 'NUBP2', 'score': 22.8}, {'connected_gene': 'SNORD60', 'score': 22.16}, {'connected_gene': 'SPSB3', 'score': 22.07}, {'connected_gene': 'TSC2', 'score': 20.49}, {'connected_gene': 'UNKL', 'score': 18.91}, {'connected_gene': 'UBE2I', 'score': 18.9}, {'connected_gene': 'AMDHD2', 'score': 17.44}, {'connected_gene': 'LOC105371055', 'score': 16.97}, {'connected_gene': 'ENSG00000261123', 'score': 15.17}, {'connected_gene': 'CCDC154', 'score': 14.18}, {'connected_gene': 'ENSG00000260646', 'score': 14.08}, {'connected_gene': 'LOC105371049', 'score': 13.06}, {'connected_gene': 'ERVK13-1', 'score': 12.2}, {'connected_gene': 'ENSG00000261207', 'score': 12.06}, {'connected_gene': 'RNF151', 'score': 11.55}, {'connected_gene': 'IFT140', 'score': 11.42}, {'connected_gene': 'ENSG00000260447', 'score': 10.65}, {'connected_gene': 'CLCN7', 'score': 10.34}, {'connected_gene': 'GFER', 'score': 8.64}, {'connected_gene': 'NPW', 'score': 7.77}, {'connected_gene': 'ECI1', 'score': 1.59}, {'connected_gene': 'EME2', 'score': 1.21}, {'connected_gene': 'ENSG00000260107', 'score': 0.44}]
chr16	GH16I002427	2427867	2430629	2.28	[{'connected_gene': 'CCNF', 'score': 557.47}, {'connected_gene': 'TBL3', 'score': 17.35}, {'connected_gene': 'AMDHD2', 'score': 12.74}, {'connected_gene': 'ZNF200', 'score': 12.7}, {'connected_gene': 'CRAMP1', 'score': 12.16}, {'connected_gene': 'ENSG00000261207', 'score': 11.42}, {'connected_gene': 'ENSG00000260051', 'score': 9.71}, {'connected_gene': 'ZNF598', 'score': 9.7}, {'connected_gene': 'LOC652276', 'score': 5.36}, {'connected_gene': 'KCTD5', 'score': 4.23}, {'connected_gene': 'DNASE1L2', 'score': 3.81}, {'connected_gene': 'ELOB', 'score': 3.1}, {'connected_gene': 'MLST8', 'score': 2.73}, {'connected_gene': 'RPS2', 'score': 2.54}, {'connected_gene': 'FLYWCH2', 'score': 2.2}, {'connected_gene': 'GFER', 'score': 2.0}, {'connected_gene': 'TRAF7', 'score': 1.7}, {'connected_gene': 'TSC2', 'score': 1.61}, {'connected_gene': 'RNF151', 'score': 1.3}, {'connected_gene': 'NTHL1', 'score': 1.2}, {'connected_gene': 'ECI1', 'score': 1.19}, {'connected_gene': 'GC16P002427', 'score': 0.77}]
chr16	GH16I002147	2147099	2164481	2.81	[{'connected_gene': 'TRAF7', 'score': 594.72}, {'connected_gene': 'SNORD60', 'score': 573.7}, {'connected_gene': 'SNHG19', 'score': 561.41}, {'connected_gene': 'GC16M002158', 'score': 550.77}, {'connected_gene': 'GC16M002156', 'score': 550.77}, {'connected_gene': 'ENSG00000281010', 'score': 550.77}, {'connected_gene': 'RAB26', 'score': 550.39}, {'connected_gene': 'ENSG00000261505', 'score': 76.13}, {'connected_gene': 'ENSG00000260051', 'score': 72.02}, {'connected_gene': 'SRRM2', 'score': 67.18}, {'connected_gene': 'CRAMP1', 'score': 63.09}, {'connected_gene': 'TELO2', 'score': 55.81}, {'connected_gene': 'LOC105371055', 'score': 51.9}, {'connected_gene': 'ENSG00000255513', 'score': 51.88}, {'connected_gene': 'E4F1', 'score': 49.08}, {'connected_gene': 'SNORA64', 'score': 46.29}, {'connected_gene': 'NUBP2', 'score': 45.05}, {'connected_gene': 'UNKL', 'score': 44.96}, {'connected_gene': 'TSC2', 'score': 44.72}, {'connected_gene': 'TBL3', 'score': 44.31}, {'connected_gene': 'ERVK13-1', 'score': 43.38}, {'connected_gene': 'THOC6', 'score': 43.07}, {'connected_gene': 'ENSG00000260954', 'score': 39.95}, {'connected_gene': 'ZNF598', 'score': 38.94}, {'connected_gene': 'SPSB3', 'score': 37.33}, {'connected_gene': 'ZNF213-AS1', 'score': 33.1}, {'connected_gene': 'AMDHD2', 'score': 32.24}, {'connected_gene': 'UBE2I', 'score': 29.22}, {'connected_gene': 'MLST8', 'score': 23.03}, {'connected_gene': 'CCDC154', 'score': 14.18}, {'connected_gene': 'CASKIN1', 'score': 12.92}, {'connected_gene': 'IFT140', 'score': 12.6}, {'connected_gene': 'EME2', 'score': 12.59}, {'connected_gene': 'ECI1', 'score': 12.16}, {'connected_gene': 'ENSG00000261207', 'score': 11.44}, {'connected_gene': 'RNF151', 'score': 11.38}, {'connected_gene': 'LOC106660606', 'score': 11.15}, {'connected_gene': 'ENSG00000260447', 'score': 10.79}, {'connected_gene': 'NME3', 'score': 10.68}, {'connected_gene': 'CLCN7', 'score': 10.64}, {'connected_gene': 'LOC652276', 'score': 10.3}, {'connected_gene': 'ENSG00000269937', 'score': 10.03}, {'connected_gene': 'PDPK2P', 'score': 9.78}, {'connected_gene': 'ENSG00000261123', 'score': 7.34}, {'connected_gene': 'PGP', 'score': 6.88}, {'connected_gene': 'NPW', 'score': 2.64}, {'connected_gene': 'GC16P002210', 'score': 0.34}]
chr16	GH16I002439	2439996	2440806	0.46	[{'connected_gene': 'NTN3', 'score': 12.32}, {'connected_gene': 'TBC1D24', 'score': 12.32}, {'connected_gene': 'ABCA3', 'score': 11.62}, {'connected_gene': 'ABCA17P', 'score': 11.62}, {'connected_gene': 'RNPS1', 'score': 11.42}, {'connected_gene': 'ECI1', 'score': 11.41}, {'connected_gene': 'MIR940', 'score': 10.91}, {'connected_gene': 'PKD1', 'score': 9.85}, {'connected_gene': 'GC16P002435', 'score': 0.77}, {'connected_gene': 'MIR6767', 'score': 0.77}, {'connected_gene': 'CCNF', 'score': 0.39}]
chr16	GH16I002234	2234586	2239766	1.52	[{'connected_gene': 'DNASE1L2', 'score': 550.77}, {'connected_gene': 'ENSG00000259780', 'score': 550.77}, {'connected_gene': 'ENSG00000261505', 'score': 40.48}, {'connected_gene': 'SRRM2', 'score': 34.56}, {'connected_gene': 'ENSG00000260051', 'score': 33.49}, {'connected_gene': 'THOC6', 'score': 23.44}, {'connected_gene': 'LOC105371055', 'score': 23.14}, {'connected_gene': 'ENSG00000260954', 'score': 23.01}, {'connected_gene': 'ENSG00000255513', 'score': 22.2}, {'connected_gene': 'SNORA64', 'score': 20.53}, {'connected_gene': 'AMDHD2', 'score': 19.18}, {'connected_gene': 'TELO2', 'score': 19.16}, {'connected_gene': 'TBL3', 'score': 18.24}, {'connected_gene': 'BRICD5', 'score': 17.52}, {'connected_gene': 'ZNF213-AS1', 'score': 16.98}, {'connected_gene': 'E4F1', 'score': 16.83}, {'connected_gene': 'TSC2', 'score': 16.51}, {'connected_gene': 'NUBP2', 'score': 16.25}, {'connected_gene': 'UNKL', 'score': 14.63}, {'connected_gene': 'ERVK13-1', 'score': 14.37}, {'connected_gene': 'CRAMP1', 'score': 13.65}, {'connected_gene': 'UBE2I', 'score': 11.86}, {'connected_gene': 'SPSB3', 'score': 11.52}, {'connected_gene': 'SNHG19', 'score': 10.81}, {'connected_gene': 'TRAF7', 'score': 10.7}, {'connected_gene': 'NME3', 'score': 10.67}, {'connected_gene': 'ZNF598', 'score': 10.13}, {'connected_gene': 'ENSG00000269937', 'score': 10.03}, {'connected_gene': 'SNORD60', 'score': 9.92}, {'connected_gene': 'MLST8', 'score': 8.58}, {'connected_gene': 'PGP', 'score': 5.23}, {'connected_gene': 'ENSG00000261663', 'score': 0.77}, {'connected_gene': 'ECI1', 'score': 0.37}]
chr16	GH16I002250	2250040	2253408	2.1	[{'connected_gene': 'ECI1', 'score': 572.04}, {'connected_gene': 'SNHG19', 'score': 18.61}, {'connected_gene': 'TBL3', 'score': 17.44}, {'connected_gene': 'RNPS1', 'score': 13.37}, {'connected_gene': 'CRAMP1', 'score': 12.3}, {'connected_gene': 'ZNF598', 'score': 11.63}, {'connected_gene': 'SNORD60', 'score': 10.47}, {'connected_gene': 'TSC2', 'score': 10.46}, {'connected_gene': 'ENSG00000260954', 'score': 10.27}, {'connected_gene': 'ENSG00000261505', 'score': 10.12}, {'connected_gene': 'NUBP2', 'score': 9.97}, {'connected_gene': 'SRRM2', 'score': 9.68}, {'connected_gene': 'LOC106660606', 'score': 7.05}, {'connected_gene': 'ENSG00000261613', 'score': 4.8}, {'connected_gene': 'SNHG9', 'score': 4.55}, {'connected_gene': 'ENSG00000261663', 'score': 0.39}]