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
ENST00000293662	[[52400723, 52401049], [52402973, 52403023], [52404664, 52404719], [52404822, 52404925], [52407470, 52407564], [52407660, 52407727], [52407918, 52407985], [52408477, 52409648]]	[[52400803, 52401049], [52402973, 52403023], [52404664, 52404719], [52404822, 52404925], [52407470, 52407564], [52407660, 52407727], [52407918, 52407985], [52408477, 52408983]]
ENST00000552963	[[52402971, 52403023], [52404664, 52404719], [52404822, 52404925], [52407470, 52407564], [52407660, 52407727], [52407918, 52407985], [52408477, 52409673]]	None
ENST00000552049	[[52404304, 52404346], [52404664, 52404719], [52404822, 52404991], [52407470, 52407564], [52407660, 52407727], [52407918, 52407985], [52408477, 52409671]]	[[52404966, 52404991], [52407470, 52407564], [52407660, 52407727], [52407918, 52407985], [52408477, 52408983]]
ENST00000546756	[[52404310, 52404346], [52404664, 52404719], [52404822, 52404925], [52407470, 52407564], [52407660, 52407727], [52407918, 52407985], [52408477, 52408849]]	[[52404861, 52404925], [52407470, 52407564], [52407660, 52407727], [52407918, 52407985], [52408477, 52408849]]
ENST00000550809	[[52404694, 52404719], [52404822, 52405135]]	None
ENST00000547749	[[52404857, 52404925], [52407470, 52407681]]	None
ENST00000380039	[[52404966, 52404991], [52407470, 52407564], [52407660, 52407727], [52407918, 52407985], [52408477, 52409648]]	[[52404966, 52404991], [52407470, 52407564], [52407660, 52407727], [52407918, 52407985], [52408477, 52408983]]
ENST00000552508	[[52407279, 52407564], [52407660, 52407727], [52407918, 52407985], [52408477, 52408966]]	None
ENST00000548505	[[52407462, 52407727], [52407918, 52408315]]	None
NM_181711	[[52400728, 52401049], [52402973, 52403023], [52404664, 52404719], [52404822, 52404925], [52407470, 52407564], [52407660, 52407727], [52407918, 52407985], [52408477, 52409673]]	[[52400803, 52401049], [52402973, 52403023], [52404664, 52404719], [52404822, 52404925], [52407470, 52407564], [52407660, 52407727], [52407918, 52407985], [52408477, 52408983]]
NM_001271856	[[52404275, 52404346], [52404664, 52404719], [52404822, 52404991], [52407470, 52407564], [52407660, 52407727], [52407918, 52407985], [52408477, 52409673]]	[[52404966, 52404991], [52407470, 52407564], [52407660, 52407727], [52407918, 52407985], [52408477, 52408983]]

Promoter

Chrom	Start	End	Description
chr12	52400719	52400736	CAGE_peak_1_at_GRASP_5end
chr12	52404270	52404301	CAGE_peak_2_at_GRASP_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	GH12I052031	52031855	52034757	1.72	[{'connected_gene': 'ATG101', 'score': 12.03}, {'connected_gene': 'RNU6-574P', 'score': 11.47}, {'connected_gene': 'NR4A1', 'score': 9.67}, {'connected_gene': 'GRASP', 'score': 3.81}, {'connected_gene': 'ACVR1B', 'score': 1.93}, {'connected_gene': 'ENSG00000259884', 'score': 0.31}]
chr12	GH12I051855	51855457	51856741	1.04	[{'connected_gene': 'ANKRD33', 'score': 21.16}, {'connected_gene': 'SLC4A8', 'score': 11.83}, {'connected_gene': 'NR4A1', 'score': 10.86}, {'connected_gene': 'GRASP', 'score': 10.33}, {'connected_gene': 'GALNT6', 'score': 9.97}, {'connected_gene': 'FIGNL2', 'score': 2.61}, {'connected_gene': 'GC12P051832', 'score': 0.31}, {'connected_gene': 'GC12P051838', 'score': 0.31}, {'connected_gene': 'GC12P051835', 'score': 0.31}, {'connected_gene': 'GC12P051836', 'score': 0.31}, {'connected_gene': 'GC12P051837', 'score': 0.31}]
chr12	GH12I052003	52003811	52004768	1.15	[{'connected_gene': 'ANKRD33', 'score': 10.7}, {'connected_gene': 'GRASP', 'score': 0.77}, {'connected_gene': 'GC12M051995', 'score': 0.44}]
chr12	GH12I052041	52041026	52047831	1.45	[{'connected_gene': 'NR4A1', 'score': 12.68}, {'connected_gene': 'OR7E47P', 'score': 7.07}, {'connected_gene': 'ENSG00000261586', 'score': 5.33}, {'connected_gene': 'GRASP', 'score': 4.27}, {'connected_gene': 'ACVR1B', 'score': 1.77}, {'connected_gene': 'ENSG00000259884', '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	GH12I052093	52093437	52093586	0.62	[{'connected_gene': 'NR4A1', 'score': 11.29}, {'connected_gene': 'GRASP', 'score': 10.86}, {'connected_gene': 'KRT7', 'score': 9.88}, {'connected_gene': 'KRT81', 'score': 9.38}, {'connected_gene': 'ENSG00000272724', 'score': 0.44}, {'connected_gene': 'ENSG00000257989', 'score': 0.39}, {'connected_gene': 'OR7E47P', 'score': 0.39}]
chr12	GH12I052088	52088557	52088706	0.54	[{'connected_gene': 'NR4A1', 'score': 11.92}, {'connected_gene': 'GRASP', 'score': 11.43}, {'connected_gene': 'ENSG00000272724', 'score': 0.77}, {'connected_gene': 'OR7E47P', 'score': 0.44}, {'connected_gene': 'ENSG00000257989', '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	GH12I052196	52196680	52219185	1.73	[{'connected_gene': 'ZNF740', 'score': 43.5}, {'connected_gene': 'HNRNPA3P10', 'score': 38.13}, {'connected_gene': 'KRT7', 'score': 33.58}, {'connected_gene': 'KRT86', 'score': 11.72}, {'connected_gene': 'KRT87P', 'score': 11.69}, {'connected_gene': 'KRT81', 'score': 11.15}, {'connected_gene': 'POU6F1', 'score': 10.95}, {'connected_gene': 'KRT83', 'score': 10.81}, {'connected_gene': 'LOC283335', 'score': 10.78}, {'connected_gene': 'KRT7-AS', 'score': 10.76}, {'connected_gene': 'CSAD', 'score': 10.36}, {'connected_gene': 'ENSG00000257808', 'score': 9.82}, {'connected_gene': 'KRT84', 'score': 9.69}, {'connected_gene': 'KRT6C', 'score': 8.97}, {'connected_gene': 'KRT80', 'score': 7.52}, {'connected_gene': 'C12orf80', 'score': 7.26}, {'connected_gene': 'LINC00592', 'score': 6.62}, {'connected_gene': 'NR4A1', 'score': 5.7}, {'connected_gene': 'ACVR1B', 'score': 1.86}, {'connected_gene': 'KRT71', 'score': 1.42}, {'connected_gene': 'GRASP', 'score': 1.2}, {'connected_gene': 'GC12P052184', 'score': 0.31}, {'connected_gene': 'GC12P052156', 'score': 0.23}]
chr12	GH12I052078	52078874	52083826	1.32	[{'connected_gene': 'OR7E47P', 'score': 560.71}, {'connected_gene': 'ENSG00000257663', 'score': 550.77}, {'connected_gene': 'NR4A1', 'score': 11.94}, {'connected_gene': 'GRASP', 'score': 11.45}, {'connected_gene': 'ENSG00000257989', 'score': 6.1}, {'connected_gene': 'EIF4B', 'score': 5.38}, {'connected_gene': 'KRT6C', 'score': 5.16}]
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	GH12I051958	51958730	51963953	0.94	[{'connected_gene': 'RNU6-574P', 'score': 12.0}, {'connected_gene': 'NR4A1', 'score': 11.5}, {'connected_gene': 'GRASP', 'score': 11.15}, {'connected_gene': 'ENSG00000260473', 'score': 6.07}, {'connected_gene': 'ACVR1B', 'score': 0.44}, {'connected_gene': 'GC12P051989', 'score': 0.31}]
chr12	GH12I051997	51997126	51997846	0.51	[{'connected_gene': 'GC12M051995', 'score': 550.77}, {'connected_gene': 'NR4A1', 'score': 12.61}, {'connected_gene': 'ANKRD33', 'score': 10.71}, {'connected_gene': 'GRASP', 'score': 0.44}]
chr12	GH12I052013	52013797	52013906	0.4	[{'connected_gene': 'GC12M052007', 'score': 0.44}, {'connected_gene': 'NR4A1', 'score': 0.44}, {'connected_gene': 'GRASP', 'score': 0.44}]
chr12	GH12I052015	52015597	52015746	0.58	[{'connected_gene': 'GC12M052007', 'score': 0.44}, {'connected_gene': 'NR4A1', 'score': 0.44}, {'connected_gene': 'GRASP', 'score': 0.44}]
chr12	GH12I052011	52011993	52012280	0.31	[{'connected_gene': 'GC12M052007', 'score': 0.77}, {'connected_gene': 'GRASP', 'score': 0.44}, {'connected_gene': 'NR4A1', 'score': 0.39}]
chr12	GH12I052005	52005454	52011946	2.16	[{'connected_gene': 'GC12M052007', 'score': 550.77}, {'connected_gene': 'GRASP', 'score': 550.77}, {'connected_gene': 'KRT80', 'score': 4.35}, {'connected_gene': 'NR4A1', 'score': 0.39}]