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
ENST00000582963	[[37884748, 37886747]]	None
ENST00000469568	[[37885408, 37885858], [37885937, 37886014], [37886446, 37886744]]	None
ENST00000474210	[[37885408, 37885858], [37885937, 37886014], [37886606, 37886785]]	None
ENST00000394231	[[37885408, 37885858], [37885937, 37886014], [37886446, 37886544], [37886659, 37887040]]	[[37885774, 37885858], [37885937, 37886014], [37886446, 37886544], [37886659, 37886748]]
ENST00000577810	[[37885410, 37886014], [37886446, 37886544], [37886659, 37886763]]	[[37885850, 37886014], [37886446, 37886544], [37886659, 37886748]]
ENST00000498164	[[37885412, 37886014], [37886446, 37886769]]	None
NM_001330206	[[37884752, 37886014], [37886446, 37886544], [37886659, 37886816]]	[[37885850, 37886014], [37886446, 37886544], [37886659, 37886748]]
NM_032339	[[37884752, 37885858], [37885937, 37886014], [37886446, 37886544], [37886659, 37886816]]	[[37885774, 37885858], [37885937, 37886014], [37886446, 37886544], [37886659, 37886748]]

Promoter

Chrom	Start	End	Description
chr17	37886510	37886566	CAGE_peak_3_at_MIEN1_5end
chr17	37886752	37886766	CAGE_peak_2_at_MIEN1_5end
chr17	37886777	37886793	CAGE_peak_1_at_MIEN1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I039784	39784411	39789373	0.62	[{'connected_gene': 'ORMDL3', 'score': 31.75}, {'connected_gene': 'GSDMA', 'score': 16.41}, {'connected_gene': 'GSDMB', 'score': 14.46}, {'connected_gene': 'IKZF3', 'score': 11.75}, {'connected_gene': 'ZPBP2', 'score': 11.74}, {'connected_gene': 'MIEN1', 'score': 11.42}, {'connected_gene': 'LRRC3C', 'score': 10.65}, {'connected_gene': 'PGAP3', 'score': 10.28}, {'connected_gene': 'ERBB2', 'score': 10.28}, {'connected_gene': 'GC17P039774', 'score': 0.39}, {'connected_gene': 'GC17P039806', 'score': 0.37}]
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	GH17I039686	39686731	39689728	2.25	[{'connected_gene': 'PGAP3', 'score': 565.29}, {'connected_gene': 'ERBB2', 'score': 550.77}, {'connected_gene': 'MED1', 'score': 18.85}, {'connected_gene': 'LOC105371762', 'score': 12.19}, {'connected_gene': 'MIEN1', 'score': 11.41}, {'connected_gene': 'GRB7', 'score': 11.4}, {'connected_gene': 'STARD3', 'score': 11.3}, {'connected_gene': 'SNORA21', 'score': 10.86}, {'connected_gene': 'MED24', 'score': 10.33}, {'connected_gene': 'GC17P039685', 'score': 0.77}]
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	GH17I039728	39728818	39731177	2.04	[{'connected_gene': 'MIEN1', 'score': 550.77}, {'connected_gene': 'SNORD124', 'score': 14.26}, {'connected_gene': 'GSDMA', 'score': 7.58}, {'connected_gene': 'ORMDL3', 'score': 6.86}, {'connected_gene': 'GSDMB', 'score': 5.71}, {'connected_gene': 'MIR4728', 'score': 0.77}, {'connected_gene': 'ERBB2', 'score': 0.26}]
chr17	GH17I039799	39798370	39798448	0.42	[{'connected_gene': 'GRB7', 'score': 10.96}, {'connected_gene': 'MIEN1', 'score': 10.95}, {'connected_gene': 'PGAP3', 'score': 10.11}, {'connected_gene': 'ERBB2', 'score': 10.09}, {'connected_gene': 'GSDMA', 'score': 9.75}, {'connected_gene': 'IKZF3', 'score': 2.88}, {'connected_gene': 'ZPBP2', 'score': 1.36}, {'connected_gene': 'GSDMB', 'score': 1.29}, {'connected_gene': 'GC17P039806', 'score': 0.44}, {'connected_gene': 'GC17P039774', 'score': 0.34}]
chr17	GH17I039798	39798746	39801733	1.1	[{'connected_gene': 'GSDMA', 'score': 16.74}, {'connected_gene': 'GSDMB', 'score': 14.76}, {'connected_gene': 'RAPGEFL1', 'score': 11.57}, {'connected_gene': 'GRB7', 'score': 10.96}, {'connected_gene': 'MIEN1', 'score': 10.95}, {'connected_gene': 'PGAP3', 'score': 10.11}, {'connected_gene': 'ERBB2', 'score': 10.09}, {'connected_gene': 'GC17P039806', 'score': 0.44}, {'connected_gene': 'GC17P039774', 'score': 0.31}, {'connected_gene': 'IKZF3', 'score': 0.21}]
chr17	GH17I039790	39790476	39796594	1.21	[{'connected_gene': 'GSDMA', 'score': 16.96}, {'connected_gene': 'IKZF3', 'score': 16.38}, {'connected_gene': 'GSDMB', 'score': 14.75}, {'connected_gene': 'LRRC3C', 'score': 12.46}, {'connected_gene': 'ZPBP2', 'score': 11.76}, {'connected_gene': 'GRB7', 'score': 11.05}, {'connected_gene': 'MIEN1', 'score': 11.04}, {'connected_gene': 'ORMDL3', 'score': 10.7}, {'connected_gene': 'PGAP3', 'score': 10.11}, {'connected_gene': 'ERBB2', 'score': 10.1}, {'connected_gene': 'MED24', 'score': 4.27}, {'connected_gene': 'GC17P039806', 'score': 0.39}, {'connected_gene': 'GC17P039774', '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	GH17I039683	39683387	39683477	0.31	[{'connected_gene': 'STARD3', 'score': 11.31}, {'connected_gene': 'MIEN1', 'score': 11.23}, {'connected_gene': 'GRB7', 'score': 11.21}, {'connected_gene': 'GC17P039685', 'score': 0.77}, {'connected_gene': 'PGAP3', 'score': 0.39}, {'connected_gene': 'PNMT', 'score': 0.37}]