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
ENST00000551576	[[52300691, 52300777], [52301280, 52301479], [52306253, 52306319], [52306882, 52307088]]	[[52306258, 52306319], [52306882, 52307088]]
ENST00000388922	[[52301201, 52301479], [52306253, 52306319], [52306882, 52307134], [52307342, 52307554], [52307757, 52307857], [52308222, 52308369], [52309008, 52309284], [52309819, 52310017], [52312768, 52312899], [52314542, 52314853]]	[[52306258, 52306319], [52306882, 52307134], [52307342, 52307554], [52307757, 52307857], [52308222, 52308369], [52309008, 52309284], [52309819, 52310017], [52312768, 52312899], [52314542, 52314677]]
ENST00000547400	[[52306112, 52306319], [52306882, 52307134], [52308222, 52308345]]	[[52306216, 52306319], [52306882, 52307134], [52308222, 52308345]]
ENST00000550683	[[52306115, 52306319], [52306882, 52307134], [52307342, 52307554], [52307757, 52307857], [52308222, 52308369], [52309008, 52309284], [52309819, 52310017], [52312768, 52312899], [52314542, 52317143]]	[[52306216, 52306319], [52306882, 52307134], [52307342, 52307554], [52307757, 52307857], [52308222, 52308369], [52309008, 52309284], [52309819, 52310017], [52312768, 52312899], [52314542, 52314677]]
ENST00000419526	[[52306154, 52306319], [52308222, 52308369], [52309008, 52309284], [52309819, 52310017], [52312768, 52312899], [52314542, 52314981]]	[[52306216, 52306319], [52308222, 52308369], [52309008, 52309284], [52309819, 52310017], [52312768, 52312899], [52314542, 52314677]]
ENST00000552678	[[52309231, 52309284], [52309819, 52310017], [52312768, 52313126]]	[[52309231, 52309284], [52309819, 52310017], [52312768, 52313007]]
ENST00000547632	[[52309496, 52310017], [52312768, 52313104]]	None
ENST00000550084	[[52315435, 52315611], [52316923, 52317145]]	None
NM_000020	[[52301201, 52301479], [52306253, 52306319], [52306882, 52307134], [52307342, 52307554], [52307757, 52307857], [52308222, 52308369], [52309008, 52309284], [52309819, 52310017], [52312768, 52312899], [52314542, 52317145]]	[[52306258, 52306319], [52306882, 52307134], [52307342, 52307554], [52307757, 52307857], [52308222, 52308369], [52309008, 52309284], [52309819, 52310017], [52312768, 52312899], [52314542, 52314677]]
NM_001077401	[[52306112, 52306319], [52306882, 52307134], [52307342, 52307554], [52307757, 52307857], [52308222, 52308369], [52309008, 52309284], [52309819, 52310017], [52312768, 52312899], [52314542, 52317145]]	[[52306258, 52306319], [52306882, 52307134], [52307342, 52307554], [52307757, 52307857], [52308222, 52308369], [52309008, 52309284], [52309819, 52310017], [52312768, 52312899], [52314542, 52314677]]

Promoter

Chrom	Start	End	Description
chr12	52300721	52300741	CAGE_peak_1_at_ACVRL1_5end
chr12	52300746	52300751	CAGE_peak_10_at_ACVRL1_5end
chr12	52301175	52301188	CAGE_peak_4_at_ACVRL1_5end
chr12	52301235	52301246	CAGE_peak_13_at_ACVRL1_5end
chr12	52301280	52301299	CAGE_peak_2_at_ACVRL1_5end
chr12	52306161	52306194	CAGE_peak_3_at_ACVRL1_5end
chr12	52306196	52306215	CAGE_peak_6_at_ACVRL1_5end
chr12	52306220	52306231	CAGE_peak_9_at_ACVRL1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I051922	51922024	51927360	1.35	[{'connected_gene': 'ACVRL1', 'score': 7.79}, {'connected_gene': 'OR7E47P', 'score': 5.64}, {'connected_gene': 'GC12P051921', 'score': 0.77}, {'connected_gene': 'ACVR1B', 'score': 0.31}, {'connected_gene': 'GC12P051832', 'score': 0.16}, {'connected_gene': 'GC12P051838', 'score': 0.16}, {'connected_gene': 'GC12P051835', 'score': 0.16}, {'connected_gene': 'GC12P051836', 'score': 0.16}, {'connected_gene': 'GC12P051837', 'score': 0.16}]
chr12	GH12I051902	51902290	51904191	0.66	[{'connected_gene': 'ACVRL1', 'score': 0.77}, {'connected_gene': 'LOC102724178', 'score': 0.39}, {'connected_gene': 'GC12P051836', 'score': 0.19}, {'connected_gene': 'GC12P051832', 'score': 0.19}, {'connected_gene': 'GC12P051838', 'score': 0.19}, {'connected_gene': 'GC12P051835', 'score': 0.19}, {'connected_gene': 'GC12P051837', 'score': 0.19}]
chr12	GH12I051901	51901517	51901666	0.8	[{'connected_gene': 'ACVRL1', 'score': 4.73}, {'connected_gene': 'LOC102724178', 'score': 0.44}, {'connected_gene': 'GC12P051836', 'score': 0.19}, {'connected_gene': 'GC12P051832', 'score': 0.19}, {'connected_gene': 'GC12P051838', 'score': 0.19}, {'connected_gene': 'GC12P051835', 'score': 0.19}, {'connected_gene': 'GC12P051837', 'score': 0.19}]
chr12	GH12I051899	51899939	51901297	0.31	[{'connected_gene': 'ACVRL1', 'score': 5.34}, {'connected_gene': 'LOC102724178', 'score': 0.44}, {'connected_gene': 'GC12P051836', 'score': 0.19}, {'connected_gene': 'GC12P051832', 'score': 0.19}, {'connected_gene': 'GC12P051838', 'score': 0.19}, {'connected_gene': 'GC12P051835', 'score': 0.19}, {'connected_gene': 'GC12P051837', 'score': 0.19}]
chr12	GH12I051897	51897001	51897801	0.8	[{'connected_gene': 'ACVRL1', 'score': 15.17}, {'connected_gene': 'LOC102724178', 'score': 0.44}, {'connected_gene': 'GC12P051836', 'score': 0.2}, {'connected_gene': 'GC12P051832', 'score': 0.2}, {'connected_gene': 'GC12P051838', 'score': 0.2}, {'connected_gene': 'GC12P051835', 'score': 0.2}, {'connected_gene': 'GC12P051837', 'score': 0.2}]
chr12	GH12I051904	51904411	51913600	2.6	[{'connected_gene': 'ACVRL1', 'score': 577.25}, {'connected_gene': 'GC12P051921', 'score': 0.39}, {'connected_gene': 'GC12P051836', 'score': 0.18}, {'connected_gene': 'GC12P051832', 'score': 0.18}, {'connected_gene': 'GC12P051838', 'score': 0.18}, {'connected_gene': 'GC12P051835', 'score': 0.18}, {'connected_gene': 'GC12P051837', 'score': 0.18}]
chr12	GH12I051975	51975815	51978283	1.25	[{'connected_gene': 'ACVR1B', 'score': 13.13}, {'connected_gene': 'GRASP', 'score': 12.4}, {'connected_gene': 'NR4A1', 'score': 12.33}, {'connected_gene': 'ACVRL1', 'score': 12.09}, {'connected_gene': 'ANKRD33', 'score': 11.99}, {'connected_gene': 'ENSG00000260473', 'score': 4.7}, {'connected_gene': 'GC12P051989', 'score': 0.39}]
chr12	GH12I051846	51846439	51849562	1.61	[{'connected_gene': 'FIGNL2', 'score': 552.21}, {'connected_gene': 'LOC105369971', 'score': 550.77}, {'connected_gene': 'SLC4A8', 'score': 14.29}, {'connected_gene': 'ACVRL1', 'score': 12.65}, {'connected_gene': 'ENSG00000261586', 'score': 11.18}, {'connected_gene': 'RNU6-574P', 'score': 10.85}, {'connected_gene': 'GALNT6', 'score': 10.2}, {'connected_gene': 'ANKRD33', 'score': 7.68}, {'connected_gene': 'SCN8A', 'score': 2.05}, {'connected_gene': 'GC12P051832', 'score': 0.37}, {'connected_gene': 'GC12P051838', 'score': 0.37}, {'connected_gene': 'GC12P051835', 'score': 0.37}, {'connected_gene': 'GC12P051836', 'score': 0.37}, {'connected_gene': 'GC12P051837', 'score': 0.37}]
chr12	GH12I051969	51969985	51975200	1.75	[{'connected_gene': 'NR4A1', 'score': 18.14}, {'connected_gene': 'GRASP', 'score': 14.33}, {'connected_gene': 'ACVR1B', 'score': 13.02}, {'connected_gene': 'ACVRL1', 'score': 12.29}, {'connected_gene': 'ANKRD33', 'score': 11.39}, {'connected_gene': 'GC12P051989', 'score': 0.37}]
chr12	GH12I052022	52022662	52027805	2.57	[{'connected_gene': 'NR4A1', 'score': 555.55}, {'connected_gene': 'HNRNPA3P10', 'score': 25.01}, {'connected_gene': 'EIF4B', 'score': 23.55}, {'connected_gene': 'RNU6-574P', 'score': 12.12}, {'connected_gene': 'ATG101', 'score': 10.08}, {'connected_gene': 'KRT80', 'score': 4.61}, {'connected_gene': 'GRASP', 'score': 3.5}, {'connected_gene': 'ACVRL1', 'score': 2.43}, {'connected_gene': 'ENSG00000259884', 'score': 0.29}]
chr12	GH12I051980	51980417	51980606	0.98	[{'connected_gene': 'GRASP', 'score': 12.4}, {'connected_gene': 'NR4A1', 'score': 12.35}, {'connected_gene': 'ACVRL1', 'score': 12.09}, {'connected_gene': 'ANKRD33', 'score': 11.98}, {'connected_gene': 'ACVR1B', 'score': 11.81}, {'connected_gene': 'GC12P051989', 'score': 0.44}]
chr12	GH12I052180	52180900	52196029	2.18	[{'connected_gene': 'KRT80', 'score': 577.37}, {'connected_gene': 'ZNF740', 'score': 33.88}, {'connected_gene': 'KRT7', 'score': 16.34}, {'connected_gene': 'HNRNPA3P10', 'score': 15.27}, {'connected_gene': 'POU6F1', 'score': 14.08}, {'connected_gene': 'SPRYD3', 'score': 13.93}, {'connected_gene': 'CSAD', 'score': 10.36}, {'connected_gene': 'ENSG00000257808', 'score': 9.82}, {'connected_gene': 'C12orf80', 'score': 6.82}, {'connected_gene': 'NR4A1', 'score': 5.14}, {'connected_gene': 'FIGNL2', 'score': 2.46}, {'connected_gene': 'ACVRL1', 'score': 2.35}, {'connected_gene': 'ATG101', 'score': 1.59}, {'connected_gene': 'GRASP', 'score': 1.33}, {'connected_gene': 'ACVR1B', 'score': 1.32}, {'connected_gene': 'GC12P052184', 'score': 0.44}, {'connected_gene': 'LINC00592', 'score': 0.34}, {'connected_gene': 'GC12P052156', 'score': 0.29}]
chr12	GH12I051898	51898584	51899811	0.89	[{'connected_gene': 'LOC102724178', 'score': 0.44}, {'connected_gene': 'ACVRL1', 'score': 0.44}, {'connected_gene': 'GC12P051836', 'score': 0.2}, {'connected_gene': 'GC12P051832', 'score': 0.2}, {'connected_gene': 'GC12P051838', 'score': 0.2}, {'connected_gene': 'GC12P051835', 'score': 0.2}, {'connected_gene': 'GC12P051837', 'score': 0.2}]
chr12	GH12I051894	51894777	51895601	1.11	[{'connected_gene': 'LOC102724178', 'score': 0.77}, {'connected_gene': 'ACVRL1', 'score': 0.39}, {'connected_gene': 'GC12P051836', 'score': 0.21}, {'connected_gene': 'GC12P051832', 'score': 0.21}, {'connected_gene': 'GC12P051838', 'score': 0.21}, {'connected_gene': 'GC12P051835', 'score': 0.21}, {'connected_gene': 'GC12P051837', 'score': 0.21}]
chr12	GH12I051921	51921037	51921778	0.83	[{'connected_gene': 'GC12P051921', 'score': 550.77}, {'connected_gene': 'ACVRL1', 'score': 0.39}, {'connected_gene': 'ACVR1B', 'score': 0.29}, {'connected_gene': 'GC12P051836', 'score': 0.16}, {'connected_gene': 'GC12P051832', 'score': 0.16}, {'connected_gene': 'GC12P051838', 'score': 0.16}, {'connected_gene': 'GC12P051835', 'score': 0.16}, {'connected_gene': 'GC12P051837', 'score': 0.16}]
chr12	GH12I051915	51915039	51916459	0.57	[{'connected_gene': 'GC12P051921', 'score': 0.44}, {'connected_gene': 'ACVRL1', 'score': 0.44}, {'connected_gene': 'GC12P051836', 'score': 0.17}, {'connected_gene': 'GC12P051832', 'score': 0.17}, {'connected_gene': 'GC12P051838', 'score': 0.17}, {'connected_gene': 'GC12P051835', 'score': 0.17}, {'connected_gene': 'GC12P051837', 'score': 0.17}]
chr12	GH12I051917	51917837	51917986	1.08	[{'connected_gene': 'GC12P051921', 'score': 0.77}, {'connected_gene': 'ACVRL1', 'score': 0.39}, {'connected_gene': 'GC12P051836', 'score': 0.17}, {'connected_gene': 'GC12P051832', 'score': 0.17}, {'connected_gene': 'GC12P051838', 'score': 0.17}, {'connected_gene': 'GC12P051835', 'score': 0.17}, {'connected_gene': 'GC12P051837', 'score': 0.17}]