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
ENST00000490531	[[45120036, 45120122], [45120238, 45120361], [45120474, 45120621], [45120715, 45120862], [45121199, 45121271], [45121353, 45121466], [45121706, 45125711], [45128426, 45128513]]	[[45120107, 45120122], [45120238, 45120361], [45120474, 45120621], [45120715, 45120862], [45121199, 45121271], [45121353, 45121466], [45121706, 45125711], [45128426, 45128493]]
ENST00000460409	[[45120577, 45120621], [45120715, 45120999]]	None
NM_001146334	[[45120035, 45120122], [45120238, 45120361], [45120474, 45120621], [45120715, 45120862], [45121199, 45121271], [45121353, 45121466], [45121706, 45125711], [45128426, 45128493]]	[[45120107, 45120122], [45120238, 45120361], [45120474, 45120621], [45120715, 45120862], [45121199, 45121271], [45121353, 45121466], [45121706, 45125711], [45128426, 45128493]]

Promoter

Chrom	Start	End	Description
chr7	45126025	45126036	CAGE_peak_4_at_NACAD_5end
chr7	45126037	45126048	CAGE_peak_6_at_NACAD_5end
chr7	45128472	45128620	CAGE_peak_1_at_NACAD_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I045108	45108918	45112951	2.1	[{'connected_gene': 'TBRG4', 'score': 565.69}, {'connected_gene': 'SNHG15', 'score': 20.06}, {'connected_gene': 'NACAD', 'score': 16.9}, {'connected_gene': 'CCM2', 'score': 16.63}, {'connected_gene': 'RAMP3', 'score': 12.04}, {'connected_gene': 'SNORA5B', 'score': 0.77}, {'connected_gene': 'GC07P045063', 'score': 0.25}]
chr7	GH07I045071	45071956	45077421	0.65	[{'connected_gene': 'CCM2', 'score': 34.89}, {'connected_gene': 'TBRG4', 'score': 22.73}, {'connected_gene': 'ENSG00000260997', 'score': 17.7}, {'connected_gene': 'SNORA5A', 'score': 12.13}, {'connected_gene': 'SNORA5B', 'score': 12.11}, {'connected_gene': 'SNORA5C', 'score': 12.11}, {'connected_gene': 'SNHG15', 'score': 8.87}, {'connected_gene': 'NACAD', 'score': 0.39}, {'connected_gene': 'GC07P045063', 'score': 0.39}]
chr7	GH07I045077	45077728	45078867	0.52	[{'connected_gene': 'CCM2', 'score': 23.31}, {'connected_gene': 'SNHG15', 'score': 8.86}, {'connected_gene': 'NACAD', 'score': 0.39}, {'connected_gene': 'GC07P045063', 'score': 0.37}]
chr7	GH07I045079	45079686	45083824	0.49	[{'connected_gene': 'CCM2', 'score': 23.39}, {'connected_gene': 'ENSG00000260997', 'score': 19.7}, {'connected_gene': 'NACAD', 'score': 9.96}, {'connected_gene': 'TBRG4', 'score': 9.41}, {'connected_gene': 'SNHG15', 'score': 9.09}, {'connected_gene': 'GC07P045063', 'score': 0.37}]
chr7	GH07I044628	44628409	44641999	1.81	[{'connected_gene': 'DDX56', 'score': 31.05}, {'connected_gene': 'OGDH', 'score': 22.15}, {'connected_gene': 'H2AFV', 'score': 21.75}, {'connected_gene': 'SNORA5C', 'score': 21.7}, {'connected_gene': 'PURB', 'score': 19.81}, {'connected_gene': 'SNORA5B', 'score': 19.34}, {'connected_gene': 'NACAD', 'score': 18.78}, {'connected_gene': 'NUDCD3', 'score': 13.99}, {'connected_gene': 'TMED4', 'score': 12.56}, {'connected_gene': 'ENSG00000228434', 'score': 12.36}, {'connected_gene': 'SPDYE1', 'score': 12.25}, {'connected_gene': 'MYO1G', 'score': 11.73}, {'connected_gene': 'ENSG00000228596', 'score': 11.49}, {'connected_gene': 'SNHG15', 'score': 10.99}, {'connected_gene': 'LINC01952', 'score': 10.91}, {'connected_gene': 'POLM', 'score': 10.23}, {'connected_gene': 'GCK', 'score': 9.78}, {'connected_gene': 'PPIA', 'score': 4.98}, {'connected_gene': 'CCM2', 'score': 2.48}, {'connected_gene': 'ZMIZ2', 'score': 2.07}, {'connected_gene': 'GC07M044657', 'score': 0.2}]
chr7	GH07I044175	44175401	44178706	0.74	[{'connected_gene': 'DDX56', 'score': 11.07}, {'connected_gene': 'TUBG1P', 'score': 10.76}, {'connected_gene': 'NACAD', 'score': 10.25}, {'connected_gene': 'PURB', 'score': 9.83}, {'connected_gene': 'GCK', 'score': 5.93}, {'connected_gene': 'URGCP', 'score': 4.82}, {'connected_gene': 'YKT6', 'score': 4.49}, {'connected_gene': 'LOC105375257', 'score': 0.77}]
chr7	GH07I044121	44121323	44124756	2.04	[{'connected_gene': 'POLD2', 'score': 550.77}, {'connected_gene': 'POLM', 'score': 32.92}, {'connected_gene': 'TMED4', 'score': 32.88}, {'connected_gene': 'SPDYE1', 'score': 30.09}, {'connected_gene': 'SNORA5B', 'score': 29.27}, {'connected_gene': 'ENSG00000228434', 'score': 28.81}, {'connected_gene': 'DDX56', 'score': 28.48}, {'connected_gene': 'SNORA5C', 'score': 26.14}, {'connected_gene': 'TBRG4', 'score': 18.87}, {'connected_gene': 'TUBG1P', 'score': 15.42}, {'connected_gene': 'URGCP', 'score': 11.83}, {'connected_gene': 'SNORA5A', 'score': 11.44}, {'connected_gene': 'SNHG15', 'score': 10.69}, {'connected_gene': 'NACAD', 'score': 9.84}, {'connected_gene': 'GCK', 'score': 7.72}, {'connected_gene': 'RASA4CP', 'score': 4.39}, {'connected_gene': 'MIR4649', 'score': 0.39}]
chr7	GH07I045092	45092371	45093351	0.79	[{'connected_gene': 'SNHG15', 'score': 9.75}, {'connected_gene': 'ENSG00000228596', 'score': 9.45}, {'connected_gene': 'NACAD', 'score': 0.77}, {'connected_gene': 'GC07M045104', 'score': 0.39}, {'connected_gene': 'GC07M045154', 'score': 0.39}, {'connected_gene': 'SNORA5A', 'score': 0.39}, {'connected_gene': 'GC07M045141', 'score': 0.39}, {'connected_gene': 'PIR44785', 'score': 0.39}, {'connected_gene': 'GC07P045063', 'score': 0.31}]
chr7	GH07I045087	45087752	45090172	2.29	[{'connected_gene': 'NACAD', 'score': 568.93}, {'connected_gene': 'TBRG4', 'score': 13.97}, {'connected_gene': 'ADCY1', 'score': 1.51}, {'connected_gene': 'GC07M045104', 'score': 0.37}, {'connected_gene': 'GC07M045154', 'score': 0.37}, {'connected_gene': 'SNORA5A', 'score': 0.37}, {'connected_gene': 'GC07M045141', 'score': 0.37}, {'connected_gene': 'PIR44785', 'score': 0.37}, {'connected_gene': 'GC07P045063', 'score': 0.31}]
chr7	GH07I045084	45084813	45085839	0.2	[{'connected_gene': 'NACAD', 'score': 9.72}, {'connected_gene': 'GC07P045063', 'score': 0.34}]
chr7	GH07I045035	45035901	45037415	1.05	[{'connected_gene': 'ENSG00000260997', 'score': 16.73}, {'connected_gene': 'NACAD', 'score': 16.12}, {'connected_gene': 'MYO1G', 'score': 12.62}, {'connected_gene': 'CCM2', 'score': 12.19}, {'connected_gene': 'ENSG00000228596', 'score': 9.77}, {'connected_gene': 'SNHG15', 'score': 8.95}, {'connected_gene': 'GC07M045025', 'score': 0.77}, {'connected_gene': 'GC07P045063', 'score': 0.31}]