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
ENST00000368468	[[119498373, 119501110], [119501476, 119501592], [119509569, 119509742], [119510828, 119511048], [119514941, 119515057], [119522418, 119522512], [119525923, 119526047], [119569424, 119569519], [119611847, 119611928], [119623152, 119623268], [119628060, 119628157], [119669627, 119670452], [119670706, 119670926]]	[[119500983, 119501110], [119501476, 119501592], [119509569, 119509742], [119510828, 119511048], [119514941, 119515057], [119522418, 119522512], [119525923, 119526047], [119569424, 119569519], [119611847, 119611928], [119623152, 119623268], [119628060, 119628157], [119669627, 119670230]]
ENST00000368466	[[119527722, 119528068], [119532010, 119532095], [119569424, 119569519], [119611847, 119611928], [119623152, 119623268], [119628060, 119628157], [119653100, 119653169], [119669627, 119670452], [119670706, 119670901]]	[[119532052, 119532095], [119569424, 119569519], [119611847, 119611928], [119623152, 119623268], [119628060, 119628157], [119653100, 119653169], [119669627, 119670230]]
NM_005907	[[119498365, 119501110], [119501476, 119501592], [119509569, 119509742], [119510828, 119511048], [119514941, 119515057], [119522418, 119522512], [119525923, 119526047], [119569424, 119569519], [119611847, 119611928], [119623152, 119623268], [119628060, 119628157], [119669627, 119670452], [119670706, 119670931]]	[[119500983, 119501110], [119501476, 119501592], [119509569, 119509742], [119510828, 119511048], [119514941, 119515057], [119522418, 119522512], [119525923, 119526047], [119569424, 119569519], [119611847, 119611928], [119623152, 119623268], [119628060, 119628157], [119669627, 119670230]]

Promoter

Chrom	Start	End	Description
chr6	119670898	119670903	CAGE_peak_2_at_MAN1A1_5end
chr6	119670919	119670943	CAGE_peak_1_at_MAN1A1_5end
chr6	119670955	119670961	CAGE_peak_3_at_MAN1A1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I119337	119336201	119336400	0.58	[{'connected_gene': 'FAM184A', 'score': 9.43}, {'connected_gene': 'GC06P119328', 'score': 0.44}, {'connected_gene': 'PIR63066', 'score': 0.39}, {'connected_gene': 'MAN1A1', 'score': 0.37}]
chr6	GH06I119169	119169801	119176099	0.96	[{'connected_gene': 'FAM184A', 'score': 12.6}, {'connected_gene': 'RNU6-194P', 'score': 10.96}, {'connected_gene': 'MAN1A1', 'score': 10.16}, {'connected_gene': 'GC06P119180', 'score': 0.44}, {'connected_gene': 'ENSG00000220139', 'score': 0.39}]
chr6	GH06I119334	119334541	119336130	0.6	[{'connected_gene': 'FAM184A', 'score': 9.43}, {'connected_gene': 'RPL13AP15', 'score': 5.63}, {'connected_gene': 'GC06P119328', 'score': 0.44}, {'connected_gene': 'PIR63066', 'score': 0.39}, {'connected_gene': 'MAN1A1', 'score': 0.37}]
chr6	GH06I119202	119202611	119203022	0.41	[{'connected_gene': 'FAM184A', 'score': 7.52}, {'connected_gene': 'GC06P119180', 'score': 0.34}, {'connected_gene': 'RPL13AP15', 'score': 0.2}, {'connected_gene': 'MAN1A1', 'score': 0.11}]
chr6	GH06I119128	119128976	119131214	1.13	[{'connected_gene': 'MAN1A1', 'score': 10.81}, {'connected_gene': 'MIR548B', 'score': 10.71}, {'connected_gene': 'FAM184A', 'score': 0.37}]
chr6	GH06I119624	119624138	119625526	0.2	[{'connected_gene': 'MAN1A1', 'score': 7.69}, {'connected_gene': 'GC06P119628', 'score': 0.77}, {'connected_gene': 'LOC285762', 'score': 0.12}]
chr6	GH06I119620	119620423	119622136	0.94	[{'connected_gene': 'MAN1A1', 'score': 7.51}, {'connected_gene': 'GC06P119628', 'score': 0.44}, {'connected_gene': 'LOC285762', 'score': 0.13}]
chr6	GH06I119609	119609529	119611442	0.31	[{'connected_gene': 'MAN1A1', 'score': 7.8}, {'connected_gene': 'GC06P119628', 'score': 0.37}, {'connected_gene': 'LOC285762', 'score': 0.13}]
chr6	GH06I119601	119601977	119603729	0.74	[{'connected_gene': 'MAN1A1', 'score': 5.51}, {'connected_gene': 'GC06P119628', 'score': 0.31}, {'connected_gene': 'LOC285762', 'score': 0.14}]
chr6	GH06I119611	119611598	119615040	0.6	[{'connected_gene': 'MAN1A1', 'score': 7.69}, {'connected_gene': 'GC06P119628', 'score': 0.37}, {'connected_gene': 'LOC285762', 'score': 0.13}]
chr6	GH06I119345	119345612	119351358	2.31	[{'connected_gene': 'MAN1A1', 'score': 555.82}, {'connected_gene': 'GC06P119350', 'score': 550.77}, {'connected_gene': 'PIR63066', 'score': 550.77}, {'connected_gene': 'MCM9', 'score': 10.45}, {'connected_gene': 'RPL13AP15', 'score': 5.04}]
chr6	GH06I119310	119310346	119311200	1.15	[{'connected_gene': 'MAN1A1', 'score': 11.3}, {'connected_gene': 'RNU6-194P', 'score': 0.37}, {'connected_gene': 'GC06M119272', 'score': 0.28}]
chr6	GH06I119829	119829053	119831905	0.46	[{'connected_gene': 'MAN1A1', 'score': 4.37}, {'connected_gene': 'LOC105377975', 'score': 0.39}, {'connected_gene': 'GC06P119736', 'score': 0.16}]
chr6	GH06I119458	119458871	119460285	0.89	[{'connected_gene': 'MAN1A1', 'score': 11.18}, {'connected_gene': 'LOC105377973', 'score': 0.37}, {'connected_gene': 'LOC285762', 'score': 0.29}, {'connected_gene': 'PIR44683', 'score': 0.21}]
chr6	GH06I119430	119430647	119431432	0.52	[{'connected_gene': 'MAN1A1', 'score': 4.73}, {'connected_gene': 'PIR44683', 'score': 0.29}, {'connected_gene': 'LOC105377973', 'score': 0.25}]
chr6	GH06I119438	119438381	119440031	0.2	[{'connected_gene': 'MAN1A1', 'score': 10.58}, {'connected_gene': 'LOC105377973', 'score': 0.28}, {'connected_gene': 'PIR44683', 'score': 0.26}]
chr6	GH06I119311	119311404	119316613	1.65	[{'connected_gene': 'MAN1A1', 'score': 17.88}, {'connected_gene': 'RPL13AP15', 'score': 5.23}, {'connected_gene': 'MCM9', 'score': 2.38}, {'connected_gene': 'RNU6-194P', 'score': 0.39}, {'connected_gene': 'GC06M119272', 'score': 0.26}]
chr6	GH06I119467	119467206	119468412	0.46	[{'connected_gene': 'MAN1A1', 'score': 10.83}, {'connected_gene': 'RPL13AP15', 'score': 4.01}, {'connected_gene': 'LOC105377973', 'score': 0.39}, {'connected_gene': 'LOC285762', 'score': 0.34}, {'connected_gene': 'PIR44683', 'score': 0.19}]
chr6	GH06I119351	119351801	119352200	0.63	[{'connected_gene': 'MAN1A1', 'score': 550.77}, {'connected_gene': 'GC06P119350', 'score': 550.77}, {'connected_gene': 'RPL13AP15', 'score': 4.01}, {'connected_gene': 'PIR44683', 'score': 0.25}]
chr6	GH06I119353	119353801	119354000	0.4	[{'connected_gene': 'MAN1A1', 'score': 0.77}, {'connected_gene': 'PIR44683', 'score': 0.26}]
chr6	GH06I119362	119362699	119363440	0.2	[{'connected_gene': 'MAN1A1', 'score': 0.39}, {'connected_gene': 'PIR44683', 'score': 0.29}]
chr6	GH06I119354	119354801	119355787	0.4	[{'connected_gene': 'MAN1A1', 'score': 0.77}, {'connected_gene': 'PIR44683', 'score': 0.26}]
chr6	GH06I119237	119237236	119237689	0.88	[{'connected_gene': 'MCM9', 'score': 28.25}, {'connected_gene': 'LOC644303', 'score': 10.11}, {'connected_gene': 'RPL13AP15', 'score': 0.29}, {'connected_gene': 'GC06P119180', 'score': 0.22}, {'connected_gene': 'MAN1A1', 'score': 0.14}]
chr6	GH06I119307	119307556	119310170	1.46	[{'connected_gene': 'MCM9', 'score': 20.77}, {'connected_gene': 'MAN1A1', 'score': 11.3}, {'connected_gene': 'RPL13AP15', 'score': 5.25}, {'connected_gene': 'RNU6-194P', 'score': 0.37}, {'connected_gene': 'GC06M119272', 'score': 0.28}]
chr6	GH06I119322	119322013	119323260	0.95	[{'connected_gene': 'RNU6-194P', 'score': 0.77}, {'connected_gene': 'MAN1A1', 'score': 0.31}, {'connected_gene': 'GC06M119272', 'score': 0.25}]
chr6	GH06I119285	119285036	119285185	0.59	[{'connected_gene': 'RNU6-194P', 'score': 12.18}, {'connected_gene': 'MAN1A1', 'score': 4.33}, {'connected_gene': 'GC06M119272', 'score': 0.39}]
chr6	GH06I119295	119295430	119297196	0.81	[{'connected_gene': 'RNU6-194P', 'score': 11.48}, {'connected_gene': 'MAN1A1', 'score': 4.39}, {'connected_gene': 'GC06M119272', 'score': 0.34}]
chr6	GH06I119305	119305356	119307244	0.62	[{'connected_gene': 'RNU6-194P', 'score': 0.34}, {'connected_gene': 'GC06M119272', 'score': 0.29}, {'connected_gene': 'MAN1A1', 'score': 0.25}]
chr6	GH06I119323	119323576	119323725	0.51	[{'connected_gene': 'RNU6-194P', 'score': 0.77}, {'connected_gene': 'MAN1A1', 'score': 0.31}, {'connected_gene': 'GC06M119272', 'score': 0.23}]
chr6	GH06I119260	119260637	119262400	1.19	[{'connected_gene': 'RNU6-194P', 'score': 11.18}, {'connected_gene': 'CEP85L', 'score': 9.97}, {'connected_gene': 'RPL13AP15', 'score': 5.29}, {'connected_gene': 'GC06P119180', 'score': 0.18}, {'connected_gene': 'MAN1A1', 'score': 0.16}]
chr6	GH06I119445	119445195	119447259	1.23	[{'connected_gene': 'RPL13AP15', 'score': 4.47}, {'connected_gene': 'MAN1A1', 'score': 4.43}, {'connected_gene': 'LOC105377973', 'score': 0.29}, {'connected_gene': 'PIR44683', 'score': 0.25}]
chr6	GH06I119442	119442390	119444371	1.18	[{'connected_gene': 'RPL13AP15', 'score': 4.44}, {'connected_gene': 'MAN1A1', 'score': 2.1}, {'connected_gene': 'LOC105377973', 'score': 0.28}, {'connected_gene': 'PIR44683', 'score': 0.25}]
chr6	GH06I119339	119339773	119341639	1.38	[{'connected_gene': 'RPL13AP15', 'score': 4.02}, {'connected_gene': 'MAN1A1', 'score': 1.53}, {'connected_gene': 'PIR63066', 'score': 0.44}, {'connected_gene': 'GC06P119328', 'score': 0.39}]
chr6	GH06I119331	119331396	119332391	0.38	[{'connected_gene': 'RPL13AP15', 'score': 5.0}, {'connected_gene': 'MAN1A1', 'score': 4.27}, {'connected_gene': 'GC06P119328', 'score': 0.77}, {'connected_gene': 'PIR63066', 'score': 0.37}]
chr6	GH06I119336	119336979	119339293	0.49	[{'connected_gene': 'RPL13AP15', 'score': 5.06}, {'connected_gene': 'PIR63066', 'score': 0.44}, {'connected_gene': 'MAN1A1', 'score': 0.39}, {'connected_gene': 'GC06P119328', 'score': 0.39}]
chr6	GH06I119240	119240388	119241480	0.87	[{'connected_gene': 'RPL13AP15', 'score': 0.31}, {'connected_gene': 'GC06P119180', 'score': 0.21}, {'connected_gene': 'MAN1A1', 'score': 0.14}]
chr6	GH06I119258	119258779	119259836	0.93	[{'connected_gene': 'RPL13AP15', 'score': 4.76}, {'connected_gene': 'GC06P119180', 'score': 0.18}, {'connected_gene': 'MAN1A1', 'score': 0.16}]
chr6	GH06I119359	119359694	119361110	0.31	[{'connected_gene': 'RPL13AP15', 'score': 4.52}, {'connected_gene': 'MAN1A1', 'score': 0.44}, {'connected_gene': 'PIR44683', 'score': 0.28}]
chr6	GH06I119303	119303045	119304218	0.69	[{'connected_gene': 'RPL13AP15', 'score': 4.43}, {'connected_gene': 'RNU6-194P', 'score': 0.34}, {'connected_gene': 'GC06M119272', 'score': 0.29}, {'connected_gene': 'MAN1A1', 'score': 0.25}]
chr6	GH06I119324	119323943	119325373	1.12	[{'connected_gene': 'RPL13AP15', 'score': 4.98}, {'connected_gene': 'RNU6-194P', 'score': 0.77}, {'connected_gene': 'MAN1A1', 'score': 0.31}, {'connected_gene': 'GC06M119272', 'score': 0.23}]
chr6	GH06I119297	119297769	119298857	0.2	[{'connected_gene': 'RPL13AP15', 'score': 5.28}, {'connected_gene': 'SELENOKP3', 'score': 4.07}, {'connected_gene': 'RNU6-194P', 'score': 0.31}, {'connected_gene': 'GC06M119272', 'score': 0.31}, {'connected_gene': 'MAN1A1', 'score': 0.23}]
chr6	GH06I119344	119344201	119345000	0.79	[{'connected_gene': 'PIR63066', 'score': 0.77}, {'connected_gene': 'MAN1A1', 'score': 0.44}, {'connected_gene': 'GC06P119328', 'score': 0.37}]
chr6	GH06I119330	119330306	119331038	0.52	[{'connected_gene': 'GC06P119328', 'score': 0.77}, {'connected_gene': 'PIR63066', 'score': 0.37}, {'connected_gene': 'MAN1A1', 'score': 0.34}]
chr6	GH06I119626	119626807	119629386	1.37	[{'connected_gene': 'GC06P119628', 'score': 550.77}, {'connected_gene': 'MCM9', 'score': 12.05}, {'connected_gene': 'MAN1A1', 'score': 8.66}, {'connected_gene': 'LOC285762', 'score': 0.12}]
chr6	GH06I119327	119327828	119329203	0.38	[{'connected_gene': 'GC06P119328', 'score': 550.77}, {'connected_gene': 'RNU6-194P', 'score': 550.77}, {'connected_gene': 'RPL13AP15', 'score': 5.19}, {'connected_gene': 'PIR63066', 'score': 0.37}, {'connected_gene': 'MAN1A1', 'score': 0.34}]