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
ENST00000392332	[[191068646, 191069958], [191077681, 191077801], [191109612, 191109694], [191110879, 191110938], [191114365, 191114452], [191116887, 191117033], [191125881, 191125960], [191152311, 191152364], [191155130, 191155211], [191159271, 191159356], [191161538, 191161679], [191175479, 191175522], [191184441, 191184616]]	[[191069952, 191069958], [191077681, 191077801], [191109612, 191109694], [191110879, 191110938], [191114365, 191114452], [191116887, 191117033], [191125881, 191125960], [191152311, 191152364], [191155130, 191155211], [191159271, 191159356], [191161538, 191161679], [191175479, 191175522], [191184441, 191184476]]
ENST00000359678	[[191069359, 191069958], [191073605, 191073639], [191077681, 191077801], [191109612, 191109694], [191110879, 191110938], [191114365, 191114452], [191116887, 191117033], [191125881, 191125960], [191152311, 191152364], [191155130, 191155211], [191159271, 191159356], [191161538, 191161679], [191175479, 191175522], [191184441, 191184771]]	[[191069842, 191069958], [191073605, 191073639], [191077681, 191077801], [191109612, 191109694], [191110879, 191110938], [191114365, 191114452], [191116887, 191117033], [191125881, 191125960], [191152311, 191152364], [191155130, 191155211], [191159271, 191159356], [191161538, 191161679], [191175479, 191175522], [191184441, 191184476]]
ENST00000410045	[[191069740, 191069958], [191073605, 191073639], [191077681, 191077801], [191109612, 191109694], [191110879, 191110938], [191114365, 191114452], [191114985, 191115239]]	[[191069842, 191069958], [191073605, 191073639], [191077681, 191077801], [191109612, 191109694], [191110879, 191110938], [191114365, 191114446]]
ENST00000416732	[[191073401, 191073639], [191077681, 191077801], [191109612, 191109694], [191110879, 191110941]]	[[191073543, 191073639], [191077681, 191077801], [191109612, 191109694], [191110879, 191110941]]
ENST00000409820	[[191073605, 191073639], [191077681, 191077801], [191109612, 191109694], [191110879, 191110938], [191114365, 191114452], [191115100, 191115229]]	[[191073605, 191073639], [191077681, 191077801], [191109612, 191109694], [191110879, 191110938], [191114365, 191114452], [191115100, 191115103]]
ENST00000399855	[[191054460, 191054723], [191069825, 191069958]]	[[191069842, 191069958]]
ENST00000486981	[[191069360, 191069528], [191069825, 191069958], [191077681, 191077801], [191085016, 191085176]]	None
ENST00000489147	[[191073410, 191073639], [191077681, 191080835]]	None
ENST00000392333	[[191109627, 191109694], [191110879, 191110938], [191114365, 191114452], [191116887, 191117033], [191152311, 191152364], [191155130, 191155211]]	[[191116958, 191117033], [191152311, 191152364], [191155130, 191155211]]
ENST00000485992	[[191110027, 191110096], [191110879, 191110938], [191114365, 191114452], [191116887, 191117033], [191145656, 191145794]]	None
ENST00000414928	[[191116217, 191116284], [191116887, 191117022]]	[[191116260, 191116284], [191116887, 191117022]]
ENST00000409934	[[191116891, 191117033], [191125881, 191125960], [191152311, 191152364], [191155130, 191155211], [191159271, 191159356], [191161538, 191161679], [191175479, 191175522], [191208717, 191208919]]	[[191116891, 191117033], [191125881, 191125960], [191152311, 191152364], [191155130, 191155211], [191159271, 191159356], [191161538, 191161679], [191175479, 191175522], [191208717, 191208914]]
ENST00000489269	[[191116964, 191117033], [191125125, 191125237], [191125881, 191125960], [191145656, 191145823]]	None
ENST00000495792	[[191125198, 191125237], [191125881, 191125960], [191144527, 191144778], [191145656, 191145819]]	None
NM_014362	[[191069359, 191069958], [191073605, 191073639], [191077681, 191077801], [191109612, 191109694], [191110879, 191110938], [191114365, 191114452], [191116887, 191117033], [191125881, 191125960], [191152311, 191152364], [191155130, 191155211], [191159271, 191159356], [191161538, 191161679], [191175479, 191175522], [191184441, 191184771]]	[[191069842, 191069958], [191073605, 191073639], [191077681, 191077801], [191109612, 191109694], [191110879, 191110938], [191114365, 191114452], [191116887, 191117033], [191125881, 191125960], [191152311, 191152364], [191155130, 191155211], [191159271, 191159356], [191161538, 191161679], [191175479, 191175522], [191184441, 191184476]]
NM_198047	[[191069359, 191069958], [191077681, 191077801], [191109612, 191109694], [191110879, 191110938], [191114365, 191114452], [191116887, 191117033], [191125881, 191125960], [191152311, 191152364], [191155130, 191155211], [191159271, 191159356], [191161538, 191161679], [191175479, 191175522], [191184441, 191184771]]	[[191069952, 191069958], [191077681, 191077801], [191109612, 191109694], [191110879, 191110938], [191114365, 191114452], [191116887, 191117033], [191125881, 191125960], [191152311, 191152364], [191155130, 191155211], [191159271, 191159356], [191161538, 191161679], [191175479, 191175522], [191184441, 191184476]]

Promoter

Chrom	Start	End	Description
chr2	191115237	191115258	CAGE_peak_9_at_HIBCH_5end
chr2	191145788	191145799	CAGE_peak_10_at_HIBCH_5end
chr2	191184464	191184473	CAGE_peak_8_at_HIBCH_5end
chr2	191184480	191184529	CAGE_peak_1_at_HIBCH_5end
chr2	191184535	191184570	CAGE_peak_2_at_HIBCH_5end
chr2	191184571	191184593	CAGE_peak_3_at_HIBCH_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I190235	190235695	190236781	0.2	[{'connected_gene': 'C2orf88', 'score': 18.26}, {'connected_gene': 'GC02M190201', 'score': 0.25}, {'connected_gene': 'LOC105373794', 'score': 0.16}, {'connected_gene': 'HIBCH', 'score': 0.14}]
chr2	GH02I190214	190214400	190217678	0.85	[{'connected_gene': 'WDR75', 'score': 22.85}, {'connected_gene': 'C2orf88', 'score': 18.39}, {'connected_gene': 'HIBCH', 'score': 17.44}, {'connected_gene': 'ANKAR', 'score': 12.09}, {'connected_gene': 'PMS1', 'score': 10.9}, {'connected_gene': 'OSGEPL1', 'score': 10.6}, {'connected_gene': 'NAB1', 'score': 9.87}, {'connected_gene': 'GC02M190201', 'score': 0.2}, {'connected_gene': 'LOC105373794', 'score': 0.19}]
chr2	GH02I191011	191011395	191016003	2.57	[{'connected_gene': 'STAT1', 'score': 558.64}, {'connected_gene': 'LOC105373805', 'score': 16.8}, {'connected_gene': 'MSTN', 'score': 11.58}, {'connected_gene': 'NAB1', 'score': 11.2}, {'connected_gene': 'GLS', 'score': 10.86}, {'connected_gene': 'HIBCH', 'score': 4.91}, {'connected_gene': 'STAT4', 'score': 4.32}, {'connected_gene': 'GC02P191016', 'score': 0.77}, {'connected_gene': 'LOC100420571', 'score': 0.34}]
chr2	GH02I190529	190529785	190531054	0.86	[{'connected_gene': 'MFSD6', 'score': 23.26}, {'connected_gene': 'NAB1', 'score': 9.61}, {'connected_gene': 'NEMP2', 'score': 7.27}, {'connected_gene': 'HIBCH', 'score': 7.1}, {'connected_gene': 'ENSG00000233654', 'score': 0.77}, {'connected_gene': 'GC02P190518', 'score': 0.39}, {'connected_gene': 'GC02M190517', 'score': 0.39}]
chr2	GH02I190477	190477215	190479110	1.1	[{'connected_gene': 'MFSD6', 'score': 33.22}, {'connected_gene': 'NEMP2', 'score': 24.63}, {'connected_gene': 'NAB1', 'score': 16.56}, {'connected_gene': 'ENSG00000233654', 'score': 10.79}, {'connected_gene': 'HIBCH', 'score': 6.27}, {'connected_gene': 'ENSG00000272979', 'score': 0.34}, {'connected_gene': 'GC02P190518', 'score': 0.28}]
chr2	GH02I190378	190378547	190379824	1.09	[{'connected_gene': 'MFSD6', 'score': 14.77}, {'connected_gene': 'ENSG00000233654', 'score': 10.42}, {'connected_gene': 'NEMP2', 'score': 10.41}, {'connected_gene': 'HIBCH', 'score': 1.61}, {'connected_gene': 'INPP1', 'score': 1.5}, {'connected_gene': 'GC02M190373', 'score': 0.44}, {'connected_gene': 'GC02M190388', 'score': 0.39}]
chr2	GH02I191063	191063391	191067082	1.24	[{'connected_gene': 'NAB1', 'score': 8.66}, {'connected_gene': 'STAT4', 'score': 6.4}, {'connected_gene': 'GLS', 'score': 5.4}, {'connected_gene': 'HIBCH', 'score': 4.42}, {'connected_gene': 'STAT1', 'score': 2.42}, {'connected_gene': 'GC02P191061', 'score': 0.77}, {'connected_gene': 'GC02P191122', 'score': 0.22}]
chr2	GH02I190717	190717358	190719875	1.29	[{'connected_gene': 'NAB1', 'score': 14.01}, {'connected_gene': 'GLS', 'score': 11.13}, {'connected_gene': 'ENSG00000272979', 'score': 5.94}, {'connected_gene': 'HIBCH', 'score': 4.56}, {'connected_gene': 'STAT4', 'score': 3.32}, {'connected_gene': 'ENSG00000228509', 'score': 0.44}, {'connected_gene': 'GC02M190697', 'score': 0.39}]
chr2	GH02I190674	190674191	190676338	0.54	[{'connected_gene': 'NAB1', 'score': 7.0}, {'connected_gene': 'HIBCH', 'score': 5.71}, {'connected_gene': 'GC02M190675', 'score': 0.77}, {'connected_gene': 'ENSG00000284052', 'score': 0.31}]
chr2	GH02I190646	190646183	190651763	2.43	[{'connected_gene': 'NAB1', 'score': 575.75}, {'connected_gene': 'ENSG00000284052', 'score': 550.77}, {'connected_gene': 'NEMP2', 'score': 15.82}, {'connected_gene': 'ENSG00000233654', 'score': 11.08}, {'connected_gene': 'ENSG00000228509', 'score': 9.85}, {'connected_gene': 'GLS', 'score': 8.87}, {'connected_gene': 'HIBCH', 'score': 5.85}, {'connected_gene': 'STAT1', 'score': 3.76}, {'connected_gene': 'INPP1', 'score': 2.02}]
chr2	GH02I190355	190355831	190360850	2.23	[{'connected_gene': 'INPP1', 'score': 566.93}, {'connected_gene': 'HIBCH', 'score': 20.3}, {'connected_gene': 'GC02P190361', 'score': 0.77}]
chr2	GH02I190670	190670092	190671445	0.67	[{'connected_gene': 'GLS', 'score': 10.72}, {'connected_gene': 'HIBCH', 'score': 4.22}, {'connected_gene': 'GC02M190675', 'score': 0.44}, {'connected_gene': 'NAB1', 'score': 0.34}, {'connected_gene': 'ENSG00000284052', 'score': 0.34}]
chr2	GH02I190840	190840884	190842608	1.11	[{'connected_gene': 'GLS', 'score': 29.99}, {'connected_gene': 'ENSG00000228509', 'score': 16.93}, {'connected_gene': 'ENSG00000235852', 'score': 12.35}, {'connected_gene': 'LOC105373805', 'score': 9.02}, {'connected_gene': 'HIBCH', 'score': 5.1}, {'connected_gene': 'GC02M190697', 'score': 0.14}]
chr2	GH02I190333	190333134	190336153	1.18	[{'connected_gene': 'HIBCH', 'score': 50.75}, {'connected_gene': 'C2orf88', 'score': 4.16}, {'connected_gene': 'INPP1', 'score': 0.44}, {'connected_gene': 'GC02M190201', 'score': 0.23}]
chr2	GH02I190352	190352003	190354844	1.44	[{'connected_gene': 'HIBCH', 'score': 20.43}, {'connected_gene': 'INPP1', 'score': 15.83}, {'connected_gene': 'MFSD6', 'score': 4.3}, {'connected_gene': 'GC02P190361', 'score': 0.44}]
chr2	GH02I190342	190342485	190345173	1.95	[{'connected_gene': 'HIBCH', 'score': 579.28}, {'connected_gene': 'INPP1', 'score': 550.77}]
chr2	GH02I190318	190318257	190321086	2.09	[{'connected_gene': 'HIBCH', 'score': 598.4}, {'connected_gene': 'NEMP2', 'score': 15.26}, {'connected_gene': 'ORMDL1', 'score': 13.18}, {'connected_gene': 'WDR75', 'score': 11.44}, {'connected_gene': 'ANKAR', 'score': 11.22}, {'connected_gene': 'PMS1', 'score': 10.14}, {'connected_gene': 'INPP1', 'score': 0.34}, {'connected_gene': 'GC02M190201', 'score': 0.28}]
chr2	GH02I190528	190528600	190529001	0.99	[{'connected_gene': 'HIBCH', 'score': 7.1}, {'connected_gene': 'ENSG00000233654', 'score': 0.44}, {'connected_gene': 'GC02P190518', 'score': 0.39}, {'connected_gene': 'NEMP2', 'score': 0.39}, {'connected_gene': 'GC02M190517', 'score': 0.39}]
chr2	GH02I191076	191076791	191079695	0.31	[{'connected_gene': 'RNU6-959P', 'score': 12.72}, {'connected_gene': 'HIBCH', 'score': 4.36}, {'connected_gene': 'GC02P191061', 'score': 0.37}, {'connected_gene': 'GC02P191122', 'score': 0.26}, {'connected_gene': 'STAT4', 'score': 0.1}]
chr2	GH02I189611	189611774	189615251	1.37	[{'connected_gene': 'OSGEPL1-AS1', 'score': 12.26}, {'connected_gene': 'HIBCH', 'score': 3.99}, {'connected_gene': 'ENSG00000276828', 'score': 0.39}, {'connected_gene': 'SLC40A1', 'score': 0.31}]
chr2	GH02I190791	190791181	190793995	0.89	[{'connected_gene': 'NEMP2', 'score': 20.71}, {'connected_gene': 'ENSG00000228509', 'score': 17.95}, {'connected_gene': 'GLS', 'score': 12.01}, {'connected_gene': 'ENSG00000233654', 'score': 10.06}, {'connected_gene': 'HIBCH', 'score': 6.11}, {'connected_gene': 'GC02M190697', 'score': 0.21}]
chr2	GH02I190656	190656001	190656200	0.4	[{'connected_gene': 'NEMP2', 'score': 10.66}, {'connected_gene': 'ENSG00000233654', 'score': 10.65}, {'connected_gene': 'HIBCH', 'score': 6.53}, {'connected_gene': 'NAB1', 'score': 0.44}, {'connected_gene': 'ENSG00000284052', 'score': 0.44}, {'connected_gene': 'GC02M190675', 'score': 0.34}]
chr2	GH02I190696	190696852	190697938	0.67	[{'connected_gene': 'NEMP2', 'score': 9.89}, {'connected_gene': 'ENSG00000233654', 'score': 9.88}, {'connected_gene': 'HIBCH', 'score': 5.73}, {'connected_gene': 'ENSG00000228509', 'score': 0.39}, {'connected_gene': 'GC02M190675', 'score': 0.37}, {'connected_gene': 'GC02M190697', 'score': 0.29}]
chr2	GH02I190677	190677560	190681321	1.08	[{'connected_gene': 'GC02M190675', 'score': 550.77}, {'connected_gene': 'ENSG00000228509', 'score': 16.1}, {'connected_gene': 'NAB1', 'score': 11.41}, {'connected_gene': 'NEMP2', 'score': 11.34}, {'connected_gene': 'ENSG00000233654', 'score': 11.33}, {'connected_gene': 'GLS', 'score': 11.19}, {'connected_gene': 'MFSD6', 'score': 10.75}, {'connected_gene': 'HIBCH', 'score': 7.26}]
chr2	GH02I190807	190807140	190813550	1.14	[{'connected_gene': 'ENSG00000228509', 'score': 17.78}, {'connected_gene': 'GLS', 'score': 13.21}, {'connected_gene': 'LOC105373805', 'score': 8.3}, {'connected_gene': 'HIBCH', 'score': 7.57}, {'connected_gene': 'GC02M190697', 'score': 0.18}]
chr2	GH02I190835	190834656	190839110	0.97	[{'connected_gene': 'ENSG00000228509', 'score': 17.84}, {'connected_gene': 'GLS', 'score': 13.99}, {'connected_gene': 'LOC105373805', 'score': 9.94}, {'connected_gene': 'HIBCH', 'score': 4.41}, {'connected_gene': 'GC02M190697', 'score': 0.14}]
chr2	GH02I190759	190759514	190760516	0.94	[{'connected_gene': 'ENSG00000228509', 'score': 11.31}, {'connected_gene': 'GLS', 'score': 9.81}, {'connected_gene': 'NEMP2', 'score': 9.52}, {'connected_gene': 'ENSG00000233654', 'score': 9.52}, {'connected_gene': 'HIBCH', 'score': 6.78}, {'connected_gene': 'GC02M190697', 'score': 0.31}]
chr2	GH02I190267	190267415	190267564	0.64	[{'connected_gene': 'GC02M190201', 'score': 0.39}, {'connected_gene': 'HIBCH', 'score': 0.18}, {'connected_gene': 'LOC105373794', 'score': 0.13}]
chr2	GH02I190277	190277401	190277844	0.88	[{'connected_gene': 'GC02M190201', 'score': 0.77}, {'connected_gene': 'HIBCH', 'score': 0.2}, {'connected_gene': 'LOC105373794', 'score': 0.12}]
chr2	GH02I190268	190267201	190267401	0.64	[{'connected_gene': 'GC02M190201', 'score': 0.39}, {'connected_gene': 'HIBCH', 'score': 0.18}, {'connected_gene': 'LOC105373794', 'score': 0.13}]
chr2	GH02I190213	190213604	190214337	0.66	[{'connected_gene': 'GC02M190201', 'score': 0.2}, {'connected_gene': 'LOC105373794', 'score': 0.19}, {'connected_gene': 'HIBCH', 'score': 0.12}]
chr2	GH02I190661	190661538	190664197	0.56	[{'connected_gene': 'ENSG00000233654', 'score': 10.82}, {'connected_gene': 'NEMP2', 'score': 10.82}, {'connected_gene': 'ENSG00000228509', 'score': 10.33}, {'connected_gene': 'NAB1', 'score': 6.68}, {'connected_gene': 'HIBCH', 'score': 4.92}, {'connected_gene': 'GC02M190675', 'score': 0.39}, {'connected_gene': 'ENSG00000284052', 'score': 0.39}]