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
ENST00000230449	[[485132, 486764], [488978, 489038], [491124, 491186], [497366, 497489], [499644, 499700], [532468, 532610], [549174, 549291], [553853, 553920], [555226, 555288], [555953, 556013], [556483, 556564], [562783, 562845], [564032, 564154], [564544, 564702], [564863, 564929], [572519, 572644], [576756, 576882], [592468, 592587], [598020, 598123], [598859, 598941], [599079, 599225], [610097, 610178], [617710, 617835], [619429, 619543], [629834, 629961], [632940, 633117], [637700, 637861], [693018, 693111]]	[[486670, 486764], [488978, 489038], [491124, 491186], [497366, 497489], [499644, 499700], [532468, 532610], [549174, 549291], [553853, 553920], [555226, 555288], [555953, 556013], [556483, 556564], [562783, 562845], [564032, 564154], [564544, 564702], [564863, 564929], [572519, 572644], [576756, 576882], [592468, 592587], [598020, 598123], [598859, 598941], [599079, 599225], [610097, 610178], [617710, 617835], [619429, 619543], [629834, 629961], [632940, 633117], [637700, 637818]]
ENST00000448181	[[486517, 486764], [488978, 489038], [491124, 491186], [497366, 497489], [499644, 499700], [532468, 532610], [549174, 549291], [553853, 553920], [555226, 555288], [555953, 556013], [556483, 556564], [562783, 562845], [564032, 564154], [564544, 564702], [564863, 564929], [572519, 572644], [576756, 576882], [693018, 693117]]	[[486670, 486764], [488978, 489038], [491124, 491186], [497366, 497489], [499644, 499700], [532468, 532610], [549174, 549291], [553853, 553920], [555226, 555288], [555953, 556013], [556483, 556564], [562783, 562845], [564032, 564154], [564544, 564702], [564863, 564929], [572519, 572644], [576756, 576859]]
ENST00000443083	[[629834, 629961], [632940, 633117], [637700, 637861], [657162, 657250], [689138, 689212], [693018, 693111]]	[[629834, 629961], [632940, 633117], [637700, 637818]]
ENST00000475028	[[679142, 679514], [689138, 689212], [693018, 693108]]	None
NR_073064	[[485137, 486764], [488978, 489038], [491124, 491186], [497366, 497489], [499644, 499700], [532468, 532610], [549174, 549291], [553853, 553920], [555226, 555288], [555953, 556013], [556483, 556564], [562783, 562845], [564032, 564154], [564544, 564702], [564863, 564929], [572519, 572644], [576756, 576882], [592468, 592587], [598020, 598123], [598859, 598941], [599079, 599225], [610097, 610178], [617710, 617835], [619429, 619543], [629834, 629961], [632940, 633117], [637700, 637861], [657162, 657250], [689138, 689212], [693018, 693141]]	None
NM_018303	[[485137, 486764], [488978, 489038], [491124, 491186], [497366, 497489], [499644, 499700], [532468, 532610], [549174, 549291], [553853, 553920], [555226, 555288], [555953, 556013], [556483, 556564], [562783, 562845], [564032, 564154], [564544, 564702], [564863, 564929], [572519, 572644], [576756, 576882], [592468, 592587], [598020, 598123], [598859, 598941], [599079, 599225], [610097, 610178], [617710, 617835], [619429, 619543], [629834, 629961], [632940, 633117], [637700, 637861], [693018, 693141]]	[[486670, 486764], [488978, 489038], [491124, 491186], [497366, 497489], [499644, 499700], [532468, 532610], [549174, 549291], [553853, 553920], [555226, 555288], [555953, 556013], [556483, 556564], [562783, 562845], [564032, 564154], [564544, 564702], [564863, 564929], [572519, 572644], [576756, 576882], [592468, 592587], [598020, 598123], [598859, 598941], [599079, 599225], [610097, 610178], [617710, 617835], [619429, 619543], [629834, 629961], [632940, 633117], [637700, 637818]]

Promoter

Chrom	Start	End	Description
chr6	693050	693060	CAGE_peak_2_at_EXOC2_5end
chr6	693074	693150	CAGE_peak_1_at_EXOC2_5end
chr6	693165	693170	CAGE_peak_3_at_EXOC2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I001309	1309797	1318441	2.42	[{'connected_gene': 'FOXQ1', 'score': 550.77}, {'connected_gene': 'EXOC2', 'score': 15.71}, {'connected_gene': 'LOC105374880', 'score': 5.13}, {'connected_gene': 'GC06M001309', 'score': 0.77}, {'connected_gene': 'LINC01394', 'score': 0.44}]
chr6	GH06I000290	290008	300044	2.72	[{'connected_gene': 'DUSP22', 'score': 554.19}, {'connected_gene': 'EXOC2', 'score': 10.62}, {'connected_gene': 'IRF4', 'score': 9.54}, {'connected_gene': 'LOC102723922', 'score': 0.77}, {'connected_gene': 'GC06P000310', 'score': 0.37}]
chr6	GH06I000679	679921	685725	1.2	[{'connected_gene': 'EXOC2', 'score': 14.41}, {'connected_gene': 'HUS1B', 'score': 13.61}, {'connected_gene': 'ENSG00000272463', 'score': 13.59}, {'connected_gene': 'ELF2P2', 'score': 11.59}, {'connected_gene': 'LOC100421511', 'score': 0.39}]
chr6	GH06I000474	474139	475650	1.07	[{'connected_gene': 'EXOC2', 'score': 5.02}, {'connected_gene': 'GC06P000481', 'score': 0.44}, {'connected_gene': 'GC06P000461', 'score': 0.39}, {'connected_gene': 'LOC105374875', 'score': 0.34}]
chr6	GH06I000691	691685	693730	2.09	[{'connected_gene': 'EXOC2', 'score': 569.23}, {'connected_gene': 'ENSG00000272463', 'score': 14.61}, {'connected_gene': 'LOC100421511', 'score': 0.34}]
chr6	GH06I000582	582348	582973	0.31	[{'connected_gene': 'EXOC2', 'score': 6.97}, {'connected_gene': 'GC06P000585', 'score': 0.77}, {'connected_gene': 'GC06M000555', 'score': 0.37}]
chr6	GH06I000721	721982	722448	0.72	[{'connected_gene': 'EXOC2', 'score': 14.74}, {'connected_gene': 'GC06P000719', 'score': 0.77}, {'connected_gene': 'GC06P000730', 'score': 0.44}, {'connected_gene': 'ENSG00000271727', 'score': 0.39}]
chr6	GH06I000390	390872	394490	2.35	[{'connected_gene': 'IRF4', 'score': 576.18}, {'connected_gene': 'CICP18', 'score': 11.09}, {'connected_gene': 'ENSG00000205653', 'score': 10.57}, {'connected_gene': 'DUSP22', 'score': 3.3}, {'connected_gene': 'EXOC2', 'score': 1.25}, {'connected_gene': 'GC06P000406', 'score': 0.39}]
chr6	GH06I000472	472688	472701	0.22	[{'connected_gene': 'HUS1B', 'score': 2.86}, {'connected_gene': 'EXOC2', 'score': 1.4}, {'connected_gene': 'GC06P000481', 'score': 0.44}, {'connected_gene': 'GC06P000461', 'score': 0.39}, {'connected_gene': 'LOC105374875', 'score': 0.34}]
chr6	GH06I000657	657458	659110	0.75	[{'connected_gene': 'HUS1B', 'score': 550.77}, {'connected_gene': 'GC06P000659', 'score': 550.77}, {'connected_gene': 'ENSG00000272463', 'score': 7.42}, {'connected_gene': 'EXOC2', 'score': 5.49}]
chr6	GH06I000707	707554	712271	1.59	[{'connected_gene': 'ENSG00000272463', 'score': 587.55}, {'connected_gene': 'ENSG00000271727', 'score': 550.77}, {'connected_gene': 'EXOC2', 'score': 13.24}, {'connected_gene': 'DUSP22', 'score': 1.89}, {'connected_gene': 'HUS1B', 'score': 1.51}, {'connected_gene': 'GC06M000700', 'score': 0.44}]
chr6	GH06I000483	483772	485538	0.49	[{'connected_gene': 'ENSG00000230433', 'score': 11.85}, {'connected_gene': 'EXOC2', 'score': 4.88}, {'connected_gene': 'GC06P000481', 'score': 0.77}, {'connected_gene': 'LOC105374875', 'score': 0.29}]
chr6	GH06I000488	488831	491824	1.09	[{'connected_gene': 'ENSG00000230433', 'score': 11.87}, {'connected_gene': 'GC06P000481', 'score': 0.44}, {'connected_gene': 'EXOC2', 'score': 0.08}]
chr6	GH06I000593	593281	593410	0.56	[{'connected_gene': 'GC06P000585', 'score': 0.44}, {'connected_gene': 'PIR54847', 'score': 0.39}, {'connected_gene': 'EXOC2', 'score': 0.15}]
chr6	GH06I000520	520978	524217	0.2	[{'connected_gene': 'ENSG00000230433', 'score': 562.32}, {'connected_gene': 'EXOC2', 'score': 8.73}, {'connected_gene': 'GC06P000481', 'score': 0.26}]
chr6	GH06I000550	550981	552435	0.65	[{'connected_gene': 'ENSG00000230433', 'score': 11.67}, {'connected_gene': 'ENSG00000205653', 'score': 10.98}, {'connected_gene': 'ENSG00000272463', 'score': 4.59}, {'connected_gene': 'GC06M000555', 'score': 0.39}, {'connected_gene': 'EXOC2', 'score': 0.11}]
chr6	GH06I000489	488141	488290	0.31	[{'connected_gene': 'ENSG00000230433', 'score': 11.85}, {'connected_gene': 'GC06P000481', 'score': 0.44}, {'connected_gene': 'EXOC2', 'score': 0.08}]
chr6	GH06I000398	398191	400535	1.15	[{'connected_gene': 'ENSG00000205653', 'score': 10.85}, {'connected_gene': 'IRF4', 'score': 6.89}, {'connected_gene': 'DUSP22', 'score': 2.52}, {'connected_gene': 'EXOC2', 'score': 2.22}, {'connected_gene': 'GC06P000406', 'score': 0.44}]
chr6	GH06I000562	562381	562570	0.2	[{'connected_gene': 'GC06M000555', 'score': 550.77}, {'connected_gene': 'ENSG00000205653', 'score': 10.01}, {'connected_gene': 'IRF4', 'score': 9.83}, {'connected_gene': 'ENSG00000230433', 'score': 0.28}, {'connected_gene': 'EXOC2', 'score': 0.12}]
chr6	GH06I000498	498099	500596	0.77	[{'connected_gene': 'ENSG00000230433', 'score': 12.9}, {'connected_gene': 'IRF4', 'score': 11.24}, {'connected_gene': 'ENSG00000205653', 'score': 10.21}, {'connected_gene': 'EXOC2', 'score': 6.36}, {'connected_gene': 'GC06P000481', 'score': 0.37}]
chr6	GH06I000501	501801	502479	0.96	[{'connected_gene': 'ENSG00000230433', 'score': 12.9}, {'connected_gene': 'IRF4', 'score': 11.24}, {'connected_gene': 'ENSG00000205653', 'score': 10.21}, {'connected_gene': 'GC06P000481', 'score': 0.34}, {'connected_gene': 'EXOC2', 'score': 0.08}]
chr6	GH06I000625	625935	626743	0.56	[{'connected_gene': 'ENSG00000272463', 'score': 7.88}, {'connected_gene': 'PIR54847', 'score': 0.37}, {'connected_gene': 'HUS1B', 'score': 0.29}, {'connected_gene': 'GC06P000585', 'score': 0.26}, {'connected_gene': 'EXOC2', 'score': 0.2}]
chr6	GH06I000678	678601	678800	0.2	[{'connected_gene': 'ENSG00000272463', 'score': 6.27}, {'connected_gene': 'LOC100421511', 'score': 0.44}, {'connected_gene': 'EXOC2', 'score': 0.39}]
chr6	GH06I000659	659234	660762	0.89	[{'connected_gene': 'GC06P000659', 'score': 550.77}, {'connected_gene': 'ENSG00000272463', 'score': 12.8}, {'connected_gene': 'LOC100421511', 'score': 0.39}, {'connected_gene': 'EXOC2', 'score': 0.29}]