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
ENST00000580874	[[37759788, 37766030]]	None
ENST00000302584	[[37761032, 37762857], [37763980, 37764196]]	[[37761703, 37762852]]
NM_006160	[[37760020, 37762857], [37763980, 37764175]]	[[37761703, 37762852]]

Promoter

Chrom	Start	End	Description
chr17	37764128	37764258	CAGE_peak_1_at_NEUROD2_5end
chr17	37764312	37764326	CAGE_peak_2_at_NEUROD2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I039694	39694339	39697219	1.32	[{'connected_gene': 'PGAP3', 'score': 568.28}, {'connected_gene': 'MIEN1', 'score': 12.38}, {'connected_gene': 'GRB7', 'score': 11.65}, {'connected_gene': 'NEUROD2', 'score': 10.52}, {'connected_gene': 'ORMDL3', 'score': 9.9}, {'connected_gene': 'LRRC3C', 'score': 9.9}, {'connected_gene': 'ERBB2', 'score': 0.44}]
chr17	GH17I039631	39630988	39635001	1.17	[{'connected_gene': 'PGAP3', 'score': 21.86}, {'connected_gene': 'STARD3', 'score': 13.75}, {'connected_gene': 'TCAP', 'score': 12.62}, {'connected_gene': 'PNMT', 'score': 12.62}, {'connected_gene': 'NEUROD2', 'score': 12.16}, {'connected_gene': 'RNU6-233P', 'score': 11.7}, {'connected_gene': 'ERBB2', 'score': 11.09}, {'connected_gene': 'PPP1R1B', 'score': 0.44}]
chr17	GH17I039673	39673953	39681361	2.03	[{'connected_gene': 'PGAP3', 'score': 20.99}, {'connected_gene': 'STARD3', 'score': 12.63}, {'connected_gene': 'NEUROD2', 'score': 11.42}, {'connected_gene': 'RAPGEFL1', 'score': 6.68}, {'connected_gene': 'ORMDL3', 'score': 5.84}, {'connected_gene': 'ERBB2', 'score': 4.28}, {'connected_gene': 'GRB7', 'score': 1.93}, {'connected_gene': 'GSDMB', 'score': 1.41}, {'connected_gene': 'GC17P039685', 'score': 0.44}, {'connected_gene': 'PNMT', 'score': 0.44}]
chr17	GH17I039709	39709849	39710469	0.38	[{'connected_gene': 'MIEN1', 'score': 12.2}, {'connected_gene': 'GRB7', 'score': 12.17}, {'connected_gene': 'ERBB2', 'score': 11.77}, {'connected_gene': 'NEUROD2', 'score': 10.79}, {'connected_gene': 'PGAP3', 'score': 0.39}, {'connected_gene': 'MIR4728', 'score': 0.37}]
chr17	GH17I039708	39708088	39708742	0.31	[{'connected_gene': 'MIEN1', 'score': 12.2}, {'connected_gene': 'GRB7', 'score': 12.17}, {'connected_gene': 'ERBB2', 'score': 11.77}, {'connected_gene': 'NEUROD2', 'score': 10.79}, {'connected_gene': 'PGAP3', 'score': 0.39}, {'connected_gene': 'MIR4728', 'score': 0.37}]
chr17	GH17I040061	40061890	40076700	2.95	[{'connected_gene': 'THRA', 'score': 554.9}, {'connected_gene': 'GC17P040067', 'score': 550.77}, {'connected_gene': 'MED1', 'score': 33.4}, {'connected_gene': 'MED24', 'score': 31.76}, {'connected_gene': 'SMARCE1', 'score': 31.34}, {'connected_gene': 'MSL1', 'score': 28.13}, {'connected_gene': 'GSDMA', 'score': 20.29}, {'connected_gene': 'CDK12', 'score': 16.77}, {'connected_gene': 'RAPGEFL1', 'score': 10.71}, {'connected_gene': 'PSMD3', 'score': 10.61}, {'connected_gene': 'RPL19', 'score': 10.48}, {'connected_gene': 'TCAP', 'score': 8.67}, {'connected_gene': 'ORMDL3', 'score': 5.17}, {'connected_gene': 'GSDMB', 'score': 3.76}, {'connected_gene': 'NR1D1', 'score': 3.17}, {'connected_gene': 'PPP1R1B', 'score': 1.54}, {'connected_gene': 'NEUROD2', 'score': 1.27}, {'connected_gene': 'GC17P040059', 'score': 0.39}, {'connected_gene': 'GC17P040082', 'score': 0.39}]
chr17	GH17I039579	39579703	39580100	0.49	[{'connected_gene': 'NEUROD2', 'score': 12.77}, {'connected_gene': 'MSL1', 'score': 4.33}, {'connected_gene': 'LOC105371770', 'score': 0.44}, {'connected_gene': 'LOC105371771', 'score': 0.37}]
chr17	GH17I039607	39607910	39607969	0.88	[{'connected_gene': 'NEUROD2', 'score': 550.77}, {'connected_gene': 'LOC105371771', 'score': 0.44}]
chr17	GH17I039608	39607168	39607277	0.8	[{'connected_gene': 'NEUROD2', 'score': 0.77}, {'connected_gene': 'LOC105371771', 'score': 0.44}]
chr17	GH17I039605	39605628	39605757	0.52	[{'connected_gene': 'NEUROD2', 'score': 0.77}, {'connected_gene': 'LOC105371771', 'score': 0.44}]
chr17	GH17I039580	39580528	39580535	0.2	[{'connected_gene': 'NEUROD2', 'score': 12.77}, {'connected_gene': 'LOC105371770', 'score': 0.44}, {'connected_gene': 'LOC105371771', 'score': 0.37}]
chr17	GH17I039715	39715044	39717690	0.49	[{'connected_gene': 'GRB7', 'score': 12.2}, {'connected_gene': 'ERBB2', 'score': 11.75}, {'connected_gene': 'NEUROD2', 'score': 10.78}, {'connected_gene': 'MIR4728', 'score': 0.39}, {'connected_gene': 'PGAP3', 'score': 0.37}]
chr17	GH17I039766	39766278	39783496	2.2	[{'connected_gene': 'IKZF3', 'score': 554.39}, {'connected_gene': 'GC17P039774', 'score': 550.77}, {'connected_gene': 'GSDMB', 'score': 35.97}, {'connected_gene': 'MED1', 'score': 33.8}, {'connected_gene': 'SNORD124', 'score': 33.62}, {'connected_gene': 'ORMDL3', 'score': 20.18}, {'connected_gene': 'GSDMA', 'score': 17.3}, {'connected_gene': 'MED24', 'score': 13.43}, {'connected_gene': 'CDK12', 'score': 12.55}, {'connected_gene': 'ERBB2', 'score': 11.51}, {'connected_gene': 'MIEN1', 'score': 11.12}, {'connected_gene': 'GRB7', 'score': 10.98}, {'connected_gene': 'SNORA21', 'score': 10.37}, {'connected_gene': 'PGAP3', 'score': 10.31}, {'connected_gene': 'NEUROD2', 'score': 9.8}, {'connected_gene': 'TCAP', 'score': 4.49}, {'connected_gene': 'FBXL20', 'score': 2.65}, {'connected_gene': 'CASC3', 'score': 1.72}, {'connected_gene': 'WIPF2', 'score': 1.19}, {'connected_gene': 'GC17P039806', 'score': 0.29}]
chr17	GH17I039698	39698981	39707766	2.66	[{'connected_gene': 'ERBB2', 'score': 557.32}, {'connected_gene': 'GRB7', 'score': 18.55}, {'connected_gene': 'PGAP3', 'score': 17.48}, {'connected_gene': 'MIEN1', 'score': 12.24}, {'connected_gene': 'NEUROD2', 'score': 10.8}, {'connected_gene': 'THRA', 'score': 4.22}, {'connected_gene': 'ORMDL3', 'score': 4.03}, {'connected_gene': 'GSDMB', 'score': 1.57}, {'connected_gene': 'MIR4728', 'score': 0.34}]
chr17	GH17I039835	39835090	39835281	0.59	[{'connected_gene': 'KRT8P34', 'score': 550.77}, {'connected_gene': 'GSDMB', 'score': 10.45}, {'connected_gene': 'GSDMA', 'score': 10.41}, {'connected_gene': 'NEUROD2', 'score': 2.73}, {'connected_gene': 'GC17P039815', 'score': 0.37}, {'connected_gene': 'IKZF3', 'score': 0.31}]
chr17	GH17I039610	39610604	39614065	0.66	[{'connected_gene': 'GC17M039613', 'score': 550.77}, {'connected_gene': 'STARD3', 'score': 19.49}, {'connected_gene': 'PGAP3', 'score': 13.53}, {'connected_gene': 'RNU6-233P', 'score': 12.06}, {'connected_gene': 'RAPGEFL1', 'score': 9.26}, {'connected_gene': 'NEUROD2', 'score': 0.77}]