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
ENST00000392876	[[104166087, 104171859], [104174077, 104174142], [104179112, 104179253], [104181218, 104181305], [104182615, 104182697], [104186941, 104187043], [104187187, 104187290], [104187714, 104187775], [104190671, 104190809], [104192364, 104192455], [104200099, 104200155], [104200632, 104200707], [104208714, 104208899], [104234726, 104234975]]	[[104171606, 104171859], [104174077, 104174142], [104179112, 104179253], [104181218, 104181305], [104182615, 104182697], [104186941, 104187043], [104187187, 104187290], [104187714, 104187775], [104190671, 104190809], [104192364, 104192455], [104200099, 104200155], [104200632, 104200707], [104208714, 104208899], [104234726, 104234934]]
ENST00000447799	[[104164230, 104165107], [104169266, 104169408], [104170821, 104171859], [104174077, 104174142], [104179112, 104179162]]	[[104171606, 104171859], [104174077, 104174142], [104179112, 104179162]]
ENST00000415849	[[104171777, 104171859], [104174077, 104174142], [104179112, 104179253], [104179348, 104179525], [104181218, 104181305], [104182615, 104182697], [104186941, 104187043], [104187187, 104187250]]	[[104179453, 104179525], [104181218, 104181305], [104182615, 104182697], [104186941, 104187043], [104187187, 104187250]]
ENST00000474268	[[104181243, 104181305], [104182615, 104182835]]	None
ENST00000465502	[[104190670, 104190809], [104192364, 104192455], [104195857, 104196179]]	None
NM_001031701	[[104166080, 104171859], [104174077, 104174142], [104179112, 104179253], [104181218, 104181305], [104182615, 104182697], [104186941, 104187043], [104187187, 104187290], [104187714, 104187775], [104190671, 104190809], [104192364, 104192455], [104200099, 104200155], [104200632, 104200707], [104208714, 104208899], [104234726, 104234975]]	[[104171606, 104171859], [104174077, 104174142], [104179112, 104179253], [104181218, 104181305], [104182615, 104182697], [104186941, 104187043], [104187187, 104187290], [104187714, 104187775], [104190671, 104190809], [104192364, 104192455], [104200099, 104200155], [104200632, 104200707], [104208714, 104208899], [104234726, 104234934]]

Promoter

Chrom	Start	End	Description
chr12	104179526	104179530	CAGE_peak_5_at_NT5DC3_5end
chr12	104234966	104234984	CAGE_peak_3_at_NT5DC3_5end
chr12	104234989	104235022	CAGE_peak_1_at_NT5DC3_5end
chr12	104235025	104235067	CAGE_peak_2_at_NT5DC3_5end
chr12	104235086	104235093	CAGE_peak_4_at_NT5DC3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I103848	103848965	103849602	0.58	[{'connected_gene': 'C12orf73', 'score': 8.41}, {'connected_gene': 'NT5DC3', 'score': 6.16}, {'connected_gene': 'ENSG00000257327', 'score': 0.44}, {'connected_gene': 'TTC41P', 'score': 0.18}, {'connected_gene': 'HSP90B1', 'score': 0.18}]
chr12	GH12I104057	104057803	104057932	0.6	[{'connected_gene': 'TDG', 'score': 9.96}, {'connected_gene': 'NT5DC3', 'score': 9.45}, {'connected_gene': 'GC12M104037', 'score': 0.44}, {'connected_gene': 'GC12M104050', 'score': 0.44}, {'connected_gene': 'GLT8D2', 'score': 0.44}, {'connected_gene': 'PIR60229', 'score': 0.31}, {'connected_gene': 'GC12P104035', 'score': 0.31}, {'connected_gene': 'GC12P104034', 'score': 0.31}, {'connected_gene': 'GC12P104033', 'score': 0.31}, {'connected_gene': 'GC12P104032', 'score': 0.31}, {'connected_gene': 'GC12P104022', 'score': 0.28}]
chr12	GH12I104058	104058951	104059115	0.42	[{'connected_gene': 'TDG', 'score': 9.96}, {'connected_gene': 'NT5DC3', 'score': 9.45}, {'connected_gene': 'TXNRD1', 'score': 1.2}, {'connected_gene': 'GC12M104037', 'score': 0.44}, {'connected_gene': 'GC12M104050', 'score': 0.44}, {'connected_gene': 'GLT8D2', 'score': 0.44}, {'connected_gene': 'PIR60229', 'score': 0.31}, {'connected_gene': 'GC12P104035', 'score': 0.31}, {'connected_gene': 'GC12P104034', 'score': 0.31}, {'connected_gene': 'GC12P104033', 'score': 0.31}, {'connected_gene': 'GC12P104032', 'score': 0.31}, {'connected_gene': 'GC12P104022', 'score': 0.28}]
chr12	GH12I103858	103858152	103861135	1.56	[{'connected_gene': 'TDG', 'score': 21.63}, {'connected_gene': 'TTC41P', 'score': 11.58}, {'connected_gene': 'C12orf73', 'score': 10.39}, {'connected_gene': 'NT5DC3', 'score': 5.26}, {'connected_gene': 'ENSG00000257327', 'score': 0.37}, {'connected_gene': 'HSP90B1', 'score': 0.19}]
chr12	GH12I103839	103839921	103842672	2.24	[{'connected_gene': 'NT5DC3', 'score': 560.01}, {'connected_gene': 'ENSG00000257327', 'score': 550.77}, {'connected_gene': 'TDG', 'score': 30.95}, {'connected_gene': 'RPL18AP3', 'score': 10.93}, {'connected_gene': 'C12orf73', 'score': 7.89}, {'connected_gene': 'TTC41P', 'score': 7.35}]
chr12	GH12I103831	103831963	103833000	0.66	[{'connected_gene': 'NT5DC3', 'score': 36.07}, {'connected_gene': 'TDG', 'score': 5.21}, {'connected_gene': 'ENSG00000257754', 'score': 0.39}]
chr12	GH12I103827	103827563	103828391	0.2	[{'connected_gene': 'NT5DC3', 'score': 32.31}, {'connected_gene': 'ENSG00000257681', 'score': 13.78}, {'connected_gene': 'TDG', 'score': 5.16}, {'connected_gene': 'ENSG00000257754', 'score': 0.44}]
chr12	GH12I103797	103797434	103807399	1.69	[{'connected_gene': 'NT5DC3', 'score': 35.13}, {'connected_gene': 'ENSG00000257681', 'score': 18.46}, {'connected_gene': 'TDG', 'score': 10.33}, {'connected_gene': 'ENSG00000257754', 'score': 0.37}]
chr12	GH12I103843	103843667	103845227	0.31	[{'connected_gene': 'NT5DC3', 'score': 9.81}, {'connected_gene': 'TTC41P', 'score': 9.03}, {'connected_gene': 'C12orf73', 'score': 5.1}, {'connected_gene': 'ENSG00000257327', 'score': 0.77}, {'connected_gene': 'HSP90B1', 'score': 0.17}]
chr12	GH12I103915	103915130	103916134	0.2	[{'connected_gene': 'NT5DC3', 'score': 11.02}, {'connected_gene': 'TTC41P', 'score': 10.63}, {'connected_gene': 'HSP90B1', 'score': 0.39}, {'connected_gene': 'ENSG00000257327', 'score': 0.19}]
chr12	GH12I103909	103909003	103909152	0.31	[{'connected_gene': 'NT5DC3', 'score': 6.18}, {'connected_gene': 'TTC41P', 'score': 0.34}, {'connected_gene': 'HSP90B1', 'score': 0.34}, {'connected_gene': 'ENSG00000257327', 'score': 0.2}]
chr12	GH12I103808	103808913	103810106	0.8	[{'connected_gene': 'NT5DC3', 'score': 35.4}, {'connected_gene': 'ENSG00000257681', 'score': 17.88}, {'connected_gene': 'ENSG00000257754', 'score': 0.39}]
chr12	GH12I103832	103831598	103831795	0.22	[{'connected_gene': 'NT5DC3', 'score': 0.44}, {'connected_gene': 'ENSG00000257754', 'score': 0.39}]
chr12	GH12I104055	104055800	104057399	0.79	[{'connected_gene': 'NFYB', 'score': 11.22}, {'connected_gene': 'TDG', 'score': 11.09}, {'connected_gene': 'NT5DC3', 'score': 9.45}, {'connected_gene': 'GC12M104037', 'score': 0.44}, {'connected_gene': 'GC12M104050', 'score': 0.44}, {'connected_gene': 'GLT8D2', 'score': 0.44}, {'connected_gene': 'PIR60229', 'score': 0.31}, {'connected_gene': 'GC12P104035', 'score': 0.31}, {'connected_gene': 'GC12P104034', 'score': 0.31}, {'connected_gene': 'GC12P104033', 'score': 0.31}, {'connected_gene': 'GC12P104032', 'score': 0.31}, {'connected_gene': 'GC12P104022', 'score': 0.29}]
chr12	GH12I103960	103960236	103961939	0.79	[{'connected_gene': 'TTC41P', 'score': 19.2}, {'connected_gene': 'C12orf73', 'score': 14.19}, {'connected_gene': 'HSP90B1', 'score': 12.35}, {'connected_gene': 'NT5DC3', 'score': 6.35}, {'connected_gene': 'GC12P103942', 'score': 0.37}]
chr12	GH12I103907	103907510	103907893	0.85	[{'connected_gene': 'TTC41P', 'score': 11.77}, {'connected_gene': 'HSP90B1', 'score': 11.77}, {'connected_gene': 'TDG', 'score': 10.99}, {'connected_gene': 'NT5DC3', 'score': 10.17}, {'connected_gene': 'ENSG00000257327', 'score': 0.2}]
chr12	GH12I103879	103879888	103882020	0.81	[{'connected_gene': 'TTC41P', 'score': 25.26}, {'connected_gene': 'HSP90B1', 'score': 11.94}, {'connected_gene': 'NT5DC3', 'score': 11.09}, {'connected_gene': 'TDG', 'score': 10.91}, {'connected_gene': 'C12orf73', 'score': 4.8}, {'connected_gene': 'ENSG00000257327', 'score': 0.28}]
chr12	GH12I103904	103904083	103904232	0.31	[{'connected_gene': 'TTC41P', 'score': 11.36}, {'connected_gene': 'HSP90B1', 'score': 11.36}, {'connected_gene': 'NT5DC3', 'score': 9.93}, {'connected_gene': 'ENSG00000257327', 'score': 0.21}]
chr12	GH12I103927	103927133	103933562	2.3	[{'connected_gene': 'TTC41P', 'score': 561.01}, {'connected_gene': 'HSP90B1', 'score': 550.77}, {'connected_gene': 'MIR3652', 'score': 550.77}, {'connected_gene': 'GC12P103934', 'score': 550.77}, {'connected_gene': 'GC12P103932', 'score': 550.77}, {'connected_gene': 'TDG', 'score': 19.2}, {'connected_gene': 'RPL18AP3', 'score': 10.94}, {'connected_gene': 'C12orf73', 'score': 10.08}, {'connected_gene': 'NT5DC3', 'score': 6.31}, {'connected_gene': 'ENSG00000257681', 'score': 5.73}]
chr12	GH12I103867	103867700	103868936	0.51	[{'connected_gene': 'TTC41P', 'score': 13.49}, {'connected_gene': 'NT5DC3', 'score': 11.32}, {'connected_gene': 'ENSG00000212594', 'score': 9.43}, {'connected_gene': 'C12orf73', 'score': 6.78}, {'connected_gene': 'ENSG00000257681', 'score': 5.79}, {'connected_gene': 'ENSG00000257327', 'score': 0.31}, {'connected_gene': 'HSP90B1', 'score': 0.21}]
chr12	GH12I103900	103900690	103903765	0.31	[{'connected_gene': 'TTC41P', 'score': 21.87}, {'connected_gene': 'NT5DC3', 'score': 15.83}, {'connected_gene': 'HSP90B1', 'score': 11.36}, {'connected_gene': 'C12orf73', 'score': 6.84}, {'connected_gene': 'ENSG00000257327', 'score': 0.21}]
chr12	GH12I103878	103878023	103878212	0.77	[{'connected_gene': 'TTC41P', 'score': 24.24}, {'connected_gene': 'NT5DC3', 'score': 11.09}, {'connected_gene': 'HSP90B1', 'score': 10.95}, {'connected_gene': 'TDG', 'score': 10.84}, {'connected_gene': 'ENSG00000257327', 'score': 0.28}]
chr12	GH12I103778	103778932	103780551	0.43	[{'connected_gene': 'ENSG00000257681', 'score': 35.34}, {'connected_gene': 'NT5DC3', 'score': 5.08}, {'connected_gene': 'ENSG00000257754', 'score': 0.28}]
chr12	GH12I103774	103773723	103773812	0.38	[{'connected_gene': 'ENSG00000257681', 'score': 0.77}, {'connected_gene': 'ENSG00000257754', 'score': 0.25}, {'connected_gene': 'NT5DC3', 'score': 0.2}]
chr12	GH12I103793	103793723	103793872	0.2	[{'connected_gene': 'ENSG00000257681', 'score': 0.34}, {'connected_gene': 'ENSG00000257754', 'score': 0.31}, {'connected_gene': 'NT5DC3', 'score': 0.25}]
chr12	GH12I103775	103775383	103775532	0.2	[{'connected_gene': 'ENSG00000257681', 'score': 0.44}, {'connected_gene': 'ENSG00000257754', 'score': 0.26}, {'connected_gene': 'NT5DC3', 'score': 0.2}]
chr12	GH12I103773	103773403	103773522	0.57	[{'connected_gene': 'ENSG00000257681', 'score': 35.68}, {'connected_gene': 'ENSG00000257754', 'score': 0.25}, {'connected_gene': 'NT5DC3', 'score': 0.2}]