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
ENST00000456936	[[114949204, 114952142], [114956131, 114956377], [114961297, 114961870]]	[[114951905, 114952142], [114956131, 114956377], [114961297, 114961489]]
ENST00000503010	[[114951762, 114952142], [114956131, 114956377], [114961554, 114961733]]	None
ENST00000508420	[[114956324, 114956377], [114961297, 114961679], [114968552, 114968689]]	[[114956324, 114956377], [114961297, 114961489]]
NM_181836	[[114948904, 114952142], [114956131, 114956377], [114961297, 114961876]]	[[114951905, 114952142], [114956131, 114956377], [114961297, 114961489]]

Promoter

Chrom	Start	End	Description
chr5	114950611	114950628	CAGE_peak_3_at_TMED7_5end
chr5	114961673	114961746	CAGE_peak_1_at_TMED7-TICAM2_5end,CAGE_peak_1_at_TMED7_5end
chr5	114961757	114961773	CAGE_peak_2_at_TMED7_5end,CAGE_peak_3_at_TMED7-TICAM2_5end
chr5	114961864	114961875	CAGE_peak_2_at_TICAM2_5end,CAGE_peak_4_at_TMED7_5end,CAGE_peak_5_at_TMED7-TICAM2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I115582	115582892	115584234	0.52	[{'connected_gene': 'FEM1C', 'score': 11.86}, {'connected_gene': 'CCDC112', 'score': 11.24}, {'connected_gene': 'LOC101927100', 'score': 8.05}, {'connected_gene': 'TICAM2', 'score': 6.59}, {'connected_gene': 'TMED7', 'score': 4.8}, {'connected_gene': 'GC05P115578', 'score': 0.77}, {'connected_gene': 'TMED7-TICAM2', 'score': 0.26}]
chr5	GH05I115540	115540600	115545690	2.31	[{'connected_gene': 'FEM1C', 'score': 555.82}, {'connected_gene': 'SEMA6A-AS1', 'score': 37.15}, {'connected_gene': 'ENSG00000250015', 'score': 34.41}, {'connected_gene': 'ATG12', 'score': 19.19}, {'connected_gene': 'LOC101927100', 'score': 17.28}, {'connected_gene': 'TICAM2', 'score': 16.74}, {'connected_gene': 'PGGT1B', 'score': 10.69}, {'connected_gene': 'TMED7-TICAM2', 'score': 10.51}, {'connected_gene': 'TMED7', 'score': 6.14}, {'connected_gene': 'CCT5P1', 'score': 0.29}]
chr5	GH05I115634	115634147	115635433	1.08	[{'connected_gene': 'TMED7', 'score': 555.28}, {'connected_gene': 'LOC101927100', 'score': 5.69}, {'connected_gene': 'LOC102467217', 'score': 0.28}]
chr5	GH05I115507	115507100	115508740	0.2	[{'connected_gene': 'TMED7', 'score': 10.08}, {'connected_gene': 'TMED7-TICAM2', 'score': 10.08}, {'connected_gene': 'TICAM2', 'score': 10.0}, {'connected_gene': 'LOC101927100', 'score': 10.0}, {'connected_gene': 'CCT5P1', 'score': 0.77}, {'connected_gene': 'ENSG00000249433', 'score': 0.39}]
chr5	GH05I115556	115556990	115560920	0.9	[{'connected_gene': 'TICAM2', 'score': 18.48}, {'connected_gene': 'LOC101927100', 'score': 17.45}, {'connected_gene': 'TMED7', 'score': 16.32}, {'connected_gene': 'TMED7-TICAM2', 'score': 10.89}, {'connected_gene': 'SEMA6A-AS1', 'score': 10.78}, {'connected_gene': 'FEM1C', 'score': 6.79}, {'connected_gene': 'GC05P115575', 'score': 0.37}]
chr5	GH05I115537	115537401	115537600	0.2	[{'connected_gene': 'TICAM2', 'score': 10.38}, {'connected_gene': 'LOC101927100', 'score': 10.38}, {'connected_gene': 'TMED7-TICAM2', 'score': 10.33}, {'connected_gene': 'TMED7', 'score': 5.76}, {'connected_gene': 'FEM1C', 'score': 0.44}, {'connected_gene': 'CCT5P1', 'score': 0.31}]
chr5	GH05I116075	116075704	116075853	0.38	[{'connected_gene': 'LVRN', 'score': 10.92}, {'connected_gene': 'AP3S1', 'score': 10.49}, {'connected_gene': 'ATG12', 'score': 10.49}, {'connected_gene': 'TMED7', 'score': 10.43}, {'connected_gene': 'ENSG00000272265', 'score': 0.77}, {'connected_gene': 'RPS25P6', 'score': 0.34}]
chr5	GH05I115549	115549244	115549433	0.68	[{'connected_gene': 'CCDC112', 'score': 11.72}, {'connected_gene': 'TICAM2', 'score': 11.3}, {'connected_gene': 'LOC101927100', 'score': 11.3}, {'connected_gene': 'TMED7-TICAM2', 'score': 11.25}, {'connected_gene': 'TMED7', 'score': 11.13}, {'connected_gene': 'AP3S1', 'score': 10.16}, {'connected_gene': 'ATG12', 'score': 10.16}, {'connected_gene': 'FEM1C', 'score': 0.77}, {'connected_gene': 'GC05P115575', 'score': 0.31}]
chr5	GH05I115551	115551004	115551943	0.62	[{'connected_gene': 'CCDC112', 'score': 11.72}, {'connected_gene': 'TICAM2', 'score': 11.3}, {'connected_gene': 'LOC101927100', 'score': 11.3}, {'connected_gene': 'TMED7-TICAM2', 'score': 11.26}, {'connected_gene': 'TMED7', 'score': 11.13}, {'connected_gene': 'AP3S1', 'score': 10.16}, {'connected_gene': 'ATG12', 'score': 10.16}, {'connected_gene': 'FEM1C', 'score': 0.44}, {'connected_gene': 'GC05P115575', 'score': 0.34}]
chr5	GH05I115806	115806379	115807608	0.49	[{'connected_gene': 'CDO1', 'score': 30.25}, {'connected_gene': 'RNU2-49P', 'score': 11.1}, {'connected_gene': 'ENSG00000251118', 'score': 11.09}, {'connected_gene': 'AP3S1', 'score': 10.66}, {'connected_gene': 'ATG12', 'score': 10.66}, {'connected_gene': 'TMED7', 'score': 9.84}, {'connected_gene': 'TMED7-TICAM2', 'score': 9.7}, {'connected_gene': 'GC05M115775', 'score': 0.29}]
chr5	GH05I115623	115623046	115627266	2.3	[{'connected_gene': 'TMED7-TICAM2', 'score': 550.77}, {'connected_gene': 'TICAM2', 'score': 10.26}, {'connected_gene': 'LOC101927100', 'score': 7.28}, {'connected_gene': 'TMED7', 'score': 5.15}, {'connected_gene': 'COMMD10', 'score': 1.28}]
chr5	GH05I115579	115579344	115579493	0.31	[{'connected_gene': 'GC05P115579', 'score': 550.77}, {'connected_gene': 'GC05P115578', 'score': 550.77}, {'connected_gene': 'FEM1C', 'score': 11.89}, {'connected_gene': 'TICAM2', 'score': 11.68}, {'connected_gene': 'LOC101927100', 'score': 11.68}, {'connected_gene': 'TMED7-TICAM2', 'score': 11.59}, {'connected_gene': 'CCDC112', 'score': 11.59}, {'connected_gene': 'TMED7', 'score': 10.91}]
chr5	GH05I115575	115575192	115576827	0.49	[{'connected_gene': 'GC05P115575', 'score': 550.77}, {'connected_gene': 'TICAM2', 'score': 20.12}, {'connected_gene': 'LOC101927100', 'score': 19.32}, {'connected_gene': 'FEM1C', 'score': 11.89}, {'connected_gene': 'CCDC112', 'score': 11.59}, {'connected_gene': 'TMED7-TICAM2', 'score': 11.58}, {'connected_gene': 'TMED7', 'score': 10.9}, {'connected_gene': 'GC05P115579', 'score': 0.77}]
chr5	GH05I116076	116076436	116077000	1.1	[{'connected_gene': 'ENSG00000272265', 'score': 555.59}, {'connected_gene': 'LVRN', 'score': 10.92}, {'connected_gene': 'ATG12', 'score': 10.49}, {'connected_gene': 'AP3S1', 'score': 10.49}, {'connected_gene': 'TMED7', 'score': 10.48}, {'connected_gene': 'COMMD10', 'score': 6.56}, {'connected_gene': 'ENSG00000271918', 'score': 5.5}, {'connected_gene': 'RPS25P6', 'score': 0.34}]
chr5	GH05I115884	115884607	115886137	0.66	[{'connected_gene': 'GC05M115886', 'score': 550.77}, {'connected_gene': 'AP3S1', 'score': 10.6}, {'connected_gene': 'ATG12', 'score': 10.6}, {'connected_gene': 'LVRN', 'score': 10.54}, {'connected_gene': 'TMED7-TICAM2', 'score': 9.93}, {'connected_gene': 'TMED7', 'score': 9.93}, {'connected_gene': 'CDO1', 'score': 9.48}, {'connected_gene': 'RNU2-49P', 'score': 9.17}, {'connected_gene': 'ENSG00000251118', 'score': 9.17}]
chr5	GH05I115574	115574724	115574813	0.59	[{'connected_gene': 'GC05P115575', 'score': 550.77}, {'connected_gene': 'LOC101927100', 'score': 17.93}, {'connected_gene': 'FEM1C', 'score': 11.91}, {'connected_gene': 'TICAM2', 'score': 11.66}, {'connected_gene': 'CCDC112', 'score': 11.59}, {'connected_gene': 'TMED7-TICAM2', 'score': 11.58}, {'connected_gene': 'TMED7', 'score': 10.9}]