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

Promoter

Chrom	Start	End	Description
chr12	95867863	95867874	CAGE_peak_3_at_METAP2_5end
chr12	95867884	95867904	CAGE_peak_2_at_METAP2_5end
chr12	95867919	95867951	CAGE_peak_1_at_METAP2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I095545	95545445	95550166	2.34	[{'connected_gene': 'USP44', 'score': 568.28}, {'connected_gene': 'NR2C1', 'score': 23.02}, {'connected_gene': 'METAP2', 'score': 0.19}]
chr12	GH12I095446	95446185	95447270	1.03	[{'connected_gene': 'USP44', 'score': 6.11}, {'connected_gene': 'SNRPF', 'score': 4.44}, {'connected_gene': 'METAP2', 'score': 2.37}, {'connected_gene': 'LOC105369917', 'score': 0.77}, {'connected_gene': 'GC12M095468', 'score': 0.34}]
chr12	GH12I095538	95538825	95538974	0.31	[{'connected_gene': 'USP44', 'score': 0.39}, {'connected_gene': 'METAP2', 'score': 0.2}]
chr12	GH12I095544	95544945	95545054	0.4	[{'connected_gene': 'USP44', 'score': 0.44}, {'connected_gene': 'METAP2', 'score': 0.19}]
chr12	GH12I095522	95522845	95522994	0.31	[{'connected_gene': 'USP44', 'score': 0.31}, {'connected_gene': 'METAP2', 'score': 0.25}]
chr12	GH12I095534	95534401	95534800	0.94	[{'connected_gene': 'USP44', 'score': 0.37}, {'connected_gene': 'METAP2', 'score': 0.21}]
chr12	GH12I095652	95652519	95654945	1.59	[{'connected_gene': 'NR2C1', 'score': 61.55}, {'connected_gene': 'ELK3', 'score': 40.26}, {'connected_gene': 'METAP2', 'score': 31.25}, {'connected_gene': 'SNRPF', 'score': 30.34}, {'connected_gene': 'LTA4H', 'score': 19.44}, {'connected_gene': 'NTN4', 'score': 11.54}, {'connected_gene': 'USP44', 'score': 10.66}, {'connected_gene': 'RPL29P26', 'score': 10.06}, {'connected_gene': 'VEZT', 'score': 10.06}, {'connected_gene': 'ENSG00000212448', 'score': 0.28}, {'connected_gene': 'GC12M095719', 'score': 0.2}, {'connected_gene': 'PGAM1P5', 'score': 0.15}]
chr2	GH02I210001	210001559	210005343	1.98	[{'connected_gene': 'RPE', 'score': 556.15}, {'connected_gene': 'LOC101928020', 'score': 11.43}, {'connected_gene': 'KANSL1L', 'score': 10.41}, {'connected_gene': 'MAP2', 'score': 3.81}, {'connected_gene': 'GC02M209962', 'score': 0.37}]
chr12	GH12I095732	95732382	95734317	1.03	[{'connected_gene': 'NTN4', 'score': 10.68}, {'connected_gene': 'RNU6-247P', 'score': 10.68}, {'connected_gene': 'METAP2', 'score': 5.01}, {'connected_gene': 'LOC105369919', 'score': 0.44}, {'connected_gene': 'GC12M095785', 'score': 0.23}]
chr12	GH12I095002	95002562	95004558	2.04	[{'connected_gene': 'NDUFA12', 'score': 574.72}, {'connected_gene': 'METAP2', 'score': 13.1}, {'connected_gene': 'GC12M095002', 'score': 0.44}, {'connected_gene': 'GC12M095001', 'score': 0.44}, {'connected_gene': 'PIR32865', 'score': 0.44}, {'connected_gene': 'GC12M095000', 'score': 0.44}]
chr12	GH12I095211	95211872	95220522	2.8	[{'connected_gene': 'FGD6', 'score': 562.98}, {'connected_gene': 'VEZT', 'score': 550.77}, {'connected_gene': 'METAP2', 'score': 13.29}, {'connected_gene': 'USP44', 'score': 9.98}, {'connected_gene': 'GC12P095210', 'score': 0.44}]
chr12	GH12I094763	94763825	94764516	0.65	[{'connected_gene': 'VEZT', 'score': 14.82}, {'connected_gene': 'METAP2', 'score': 14.23}, {'connected_gene': 'TMCC3', 'score': 10.78}, {'connected_gene': 'PLXNC1', 'score': 9.44}, {'connected_gene': 'GC12M094805', 'score': 0.23}, {'connected_gene': 'GC12M094666', 'score': 0.15}]
chr2	GH02I210167	210167832	210172878	2.21	[{'connected_gene': 'KANSL1L', 'score': 556.1}, {'connected_gene': 'ENSG00000279317', 'score': 550.77}, {'connected_gene': 'MAP2', 'score': 4.34}, {'connected_gene': 'GC02M210099', 'score': 0.21}]
chr12	GH12I095941	95941989	95944343	2.03	[{'connected_gene': 'AMDHD1', 'score': 593.99}, {'connected_gene': 'CCDC38', 'score': 550.77}, {'connected_gene': 'NR2C1', 'score': 66.92}, {'connected_gene': 'USP44', 'score': 22.56}, {'connected_gene': 'ELK3', 'score': 21.23}, {'connected_gene': 'METAP2', 'score': 20.69}, {'connected_gene': 'SNRPF', 'score': 10.73}, {'connected_gene': 'VEZT', 'score': 10.15}, {'connected_gene': 'LTA4H', 'score': 9.94}, {'connected_gene': 'HAL', 'score': 6.23}, {'connected_gene': 'GC12P095914', 'score': 0.31}]
chr2	GH02I209145	209145612	209146950	0.51	[{'connected_gene': 'CRYGFP', 'score': 550.77}, {'connected_gene': 'MAP2', 'score': 3.98}, {'connected_gene': 'GC02M209126', 'score': 0.44}]
chr12	GH12I095454	95454313	95455359	0.69	[{'connected_gene': 'METAP2', 'score': 8.45}, {'connected_gene': 'USP44', 'score': 5.58}, {'connected_gene': 'GC12M095468', 'score': 0.39}, {'connected_gene': 'LOC105369917', 'score': 0.39}]
chr2	GH02I209182	209182085	209182439	0.23	[{'connected_gene': 'MAP2', 'score': 2.17}, {'connected_gene': 'PKP4P1', 'score': 0.77}, {'connected_gene': 'GC02P209190', 'score': 0.44}]
chr2	GH02I210181	210181077	210182493	0.79	[{'connected_gene': 'MAP2', 'score': 3.86}, {'connected_gene': 'ENSG00000279317', 'score': 0.39}, {'connected_gene': 'ACADL', 'score': 0.26}]
chr2	GH02I209682	209682700	209683096	0.35	[{'connected_gene': 'MAP2', 'score': 4.31}, {'connected_gene': 'UNC80', 'score': 1.6}, {'connected_gene': 'GC02P209686', 'score': 0.77}, {'connected_gene': 'GC02P209534', 'score': 0.11}]
chr2	GH02I209430	209430647	209432848	0.31	[{'connected_gene': 'MAP2', 'score': 6.77}, {'connected_gene': 'UNC80', 'score': 5.19}, {'connected_gene': 'GC02M209529', 'score': 0.15}]
chr12	GH12I095472	95472668	95475851	1.56	[{'connected_gene': 'METAP2', 'score': 556.09}, {'connected_gene': 'ELK3', 'score': 10.84}, {'connected_gene': 'USP44', 'score': 5.36}]
chr2	GH02I209137	209137697	209139070	0.38	[{'connected_gene': 'MAP2', 'score': 6.8}, {'connected_gene': 'CRYGFP', 'score': 0.44}, {'connected_gene': 'GC02M209126', 'score': 0.37}, {'connected_gene': 'HSPA8P6', 'score': 0.21}]
chr2	GH02I209564	209564554	209564694	0.24	[{'connected_gene': 'MAP2', 'score': 13.75}, {'connected_gene': 'GC02P209534', 'score': 0.29}, {'connected_gene': 'GC02P209686', 'score': 0.13}]
chr2	GH02I209367	209367447	209370332	1.02	[{'connected_gene': 'MAP2', 'score': 23.62}, {'connected_gene': 'GC02M209345', 'score': 0.44}, {'connected_gene': 'GC02P209234', 'score': 0.12}]
chr2	GH02I209580	209579201	209579800	1.29	[{'connected_gene': 'MAP2', 'score': 550.1}, {'connected_gene': 'GC02P209534', 'score': 0.25}, {'connected_gene': 'GC02P209686', 'score': 0.14}]
chr2	GH02I209306	209306569	209308209	0.38	[{'connected_gene': 'MAP2', 'score': 15.78}, {'connected_gene': 'GC02M209345', 'score': 0.2}, {'connected_gene': 'GC02P209234', 'score': 0.19}]
chr2	GH02I209305	209305716	209306154	0.31	[{'connected_gene': 'MAP2', 'score': 10.35}, {'connected_gene': 'GC02P209234', 'score': 0.19}, {'connected_gene': 'GC02M209345', 'score': 0.19}]
chr2	GH02I209307	209305137	209305266	0.38	[{'connected_gene': 'MAP2', 'score': 10.35}, {'connected_gene': 'GC02P209234', 'score': 0.19}, {'connected_gene': 'GC02M209345', 'score': 0.19}]
chr2	GH02I209579	209579985	209580044	0.5	[{'connected_gene': 'MAP2', 'score': 550.1}, {'connected_gene': 'GC02P209534', 'score': 0.25}, {'connected_gene': 'GC02P209686', 'score': 0.14}]
chr2	GH02I209208	209208402	209209399	0.56	[{'connected_gene': 'MAP2', 'score': 5.05}, {'connected_gene': 'GC02M209192', 'score': 0.39}, {'connected_gene': 'GC02P209234', 'score': 0.31}]
chr2	GH02I209477	209476897	209477046	0.74	[{'connected_gene': 'MAP2', 'score': 0.23}, {'connected_gene': 'GC02M209529', 'score': 0.23}]
chr2	GH02I209382	209382743	209383926	0.8	[{'connected_gene': 'MAP2', 'score': 34.7}, {'connected_gene': 'GC02M209345', 'score': 0.44}]
chr2	GH02I209472	209472183	209474691	1.09	[{'connected_gene': 'MAP2', 'score': 18.76}, {'connected_gene': 'GC02M209529', 'score': 0.22}]
chr2	GH02I209476	209476182	209476831	0.82	[{'connected_gene': 'MAP2', 'score': 8.12}, {'connected_gene': 'GC02M209529', 'score': 0.23}]
chr2	GH02I209391	209391977	209392126	0.52	[{'connected_gene': 'MAP2', 'score': 17.64}, {'connected_gene': 'GC02M209345', 'score': 0.37}]
chr2	GH02I209524	209524619	209527885	0.82	[{'connected_gene': 'MAP2', 'score': 21.24}, {'connected_gene': 'GC02M209529', 'score': 0.77}]
chr2	GH02I209451	209451221	209451986	0.31	[{'connected_gene': 'MAP2', 'score': 0.31}, {'connected_gene': 'GC02M209529', 'score': 0.18}]
chr2	GH02I209423	209423401	209427134	1.85	[{'connected_gene': 'MAP2', 'score': 573.09}, {'connected_gene': 'GC02M209529', 'score': 0.14}]
chr2	GH02I209523	209523957	209524226	0.46	[{'connected_gene': 'MAP2', 'score': 15.35}, {'connected_gene': 'GC02M209529', 'score': 0.44}]
chr12	GH12I096419	96419566	96432192	1.67	[{'connected_gene': 'RN7SKP11', 'score': 550.77}, {'connected_gene': 'USP44', 'score': 31.77}, {'connected_gene': 'ELK3', 'score': 31.75}, {'connected_gene': 'METAP2', 'score': 30.19}, {'connected_gene': 'CDK17', 'score': 11.68}, {'connected_gene': 'CFAP54', 'score': 11.06}, {'connected_gene': 'SNRPF', 'score': 10.58}, {'connected_gene': 'LTA4H', 'score': 9.85}, {'connected_gene': 'GC12P096416', 'score': 0.44}, {'connected_gene': 'ENSG00000258272', 'score': 0.22}, {'connected_gene': 'GC12M096423', 'score': 0.09}]
chr2	GH02I209494	209494897	209497630	1.14	[{'connected_gene': 'LOC101928020', 'score': 11.37}, {'connected_gene': 'MAP2', 'score': 11.24}, {'connected_gene': 'GC02M209529', 'score': 0.29}]
chr2	GH02I209726	209726047	209726939	0.2	[{'connected_gene': 'RNA5SP118', 'score': 0.77}, {'connected_gene': 'UNC80', 'score': 0.25}, {'connected_gene': 'MAP2', 'score': 0.06}]
chr12	GH12I096033	96033773	96036703	2.29	[{'connected_gene': 'TRD-GTC2-8', 'score': 550.77}, {'connected_gene': 'LTA4H', 'score': 550.44}, {'connected_gene': 'HAL', 'score': 30.49}, {'connected_gene': 'LOC102723340', 'score': 19.53}, {'connected_gene': 'NR2C1', 'score': 14.94}, {'connected_gene': 'METAP2', 'score': 11.32}, {'connected_gene': 'VEZT', 'score': 10.57}, {'connected_gene': 'AMDHD1', 'score': 6.61}, {'connected_gene': 'ENSG00000257715', 'score': 0.44}]
chr2	GH02I209686	209686917	209688506	0.2	[{'connected_gene': 'GC02P209686', 'score': 550.77}, {'connected_gene': 'CPS1', 'score': 5.31}, {'connected_gene': 'RNA5SP118', 'score': 0.29}, {'connected_gene': 'MAP2', 'score': 0.07}]
chr2	GH02I209663	209663201	209663400	0.57	[{'connected_gene': 'GC02P209686', 'score': 0.34}, {'connected_gene': 'GC02P209534', 'score': 0.13}, {'connected_gene': 'MAP2', 'score': 0.07}]
chr2	GH02I209639	209639931	209643082	0.6	[{'connected_gene': 'GC02P209686', 'score': 0.25}, {'connected_gene': 'GC02P209534', 'score': 0.14}, {'connected_gene': 'MAP2', 'score': 0.08}]
chr2	GH02I209612	209612949	209616689	0.52	[{'connected_gene': 'GC02P209686', 'score': 0.19}, {'connected_gene': 'GC02P209534', 'score': 0.18}, {'connected_gene': 'MAP2', 'score': 0.08}]
chr2	GH02I209661	209661401	209661600	0.46	[{'connected_gene': 'GC02P209686', 'score': 0.31}, {'connected_gene': 'GC02P209534', 'score': 0.13}, {'connected_gene': 'MAP2', 'score': 0.07}]
chr2	GH02I209638	209638277	209638686	0.49	[{'connected_gene': 'GC02P209686', 'score': 0.25}, {'connected_gene': 'GC02P209534', 'score': 0.15}, {'connected_gene': 'MAP2', 'score': 0.08}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000535095	[[95867295, 95868106], [95869846, 95869954], [95876990, 95877056], [95879654, 95879757], [95887831, 95887993], [95888732, 95888914], [95889779, 95889874], [95897840, 95897937], [95906576, 95906692], [95907427, 95908118]]	[[95867955, 95868106], [95869846, 95869954], [95876990, 95877056], [95879654, 95879757], [95887831, 95887993], [95888732, 95888914], [95889779, 95889874], [95897840, 95897937], [95906576, 95906599]]
ENST00000323666	[[95867726, 95868106], [95869846, 95869954], [95876990, 95877056], [95879654, 95879757], [95887831, 95887993], [95888732, 95888914], [95889779, 95889874], [95897840, 95897937], [95905670, 95905774], [95906576, 95906692], [95907427, 95909615]]	[[95867955, 95868106], [95869846, 95869954], [95876990, 95877056], [95879654, 95879757], [95887831, 95887993], [95888732, 95888914], [95889779, 95889874], [95897840, 95897937], [95905670, 95905774], [95906576, 95906692], [95907427, 95907680]]
ENST00000546753	[[95867856, 95868106], [95869846, 95869954], [95876990, 95877056], [95879723, 95879757], [95887831, 95887993], [95888732, 95888914], [95889779, 95889874], [95897840, 95897937], [95905670, 95905774], [95906576, 95906692], [95907427, 95908075]]	[[95867955, 95868106], [95869846, 95869954], [95876990, 95877056], [95879723, 95879757], [95887831, 95887993], [95888732, 95888914], [95889779, 95889874], [95897840, 95897937], [95905670, 95905774], [95906576, 95906692], [95907427, 95907680]]
ENST00000261220	[[95867925, 95868106], [95869849, 95869954], [95879654, 95879757], [95887831, 95887993], [95888732, 95888914], [95889779, 95889874], [95897840, 95897937], [95905670, 95905774], [95906576, 95906692], [95907427, 95908118]]	[[95867955, 95868106], [95869849, 95869954], [95879654, 95879757], [95887831, 95887993], [95888732, 95888914], [95889779, 95889874], [95897840, 95897937], [95905670, 95905774], [95906576, 95906692], [95907427, 95907680]]
ENST00000549502	[[95867927, 95868106], [95869846, 95869954], [95875902, 95875986], [95876990, 95877056], [95879654, 95879730]]	[[95867955, 95868106], [95869846, 95869954], [95875902, 95875986], [95876990, 95877056], [95879654, 95879730]]
ENST00000553151	[[95867927, 95868106], [95869918, 95869954], [95876990, 95877056], [95879654, 95879757], [95887831, 95887993], [95888732, 95888750]]	[[95867955, 95868106], [95869918, 95869954], [95876990, 95877056], [95879654, 95879757], [95887831, 95887993], [95888732, 95888750]]
ENST00000550777	[[95867930, 95868106], [95876990, 95877056], [95879654, 95879757], [95887831, 95887993], [95888732, 95888914], [95889779, 95889874], [95897840, 95897937], [95905670, 95905774], [95906576, 95906692], [95907427, 95908105]]	[[95867955, 95868106], [95876990, 95877056], [95879654, 95879757], [95887831, 95887993], [95888732, 95888914], [95889779, 95889874], [95897840, 95897937], [95905670, 95905774], [95906576, 95906692], [95907427, 95907680]]
ENST00000551840	[[95867937, 95868106], [95869849, 95869954], [95876990, 95877056], [95879654, 95879757], [95887831, 95887993], [95888732, 95888914], [95889779, 95889874], [95897840, 95897937], [95905670, 95905774], [95906576, 95906692], [95907427, 95908102]]	[[95867955, 95868106], [95869849, 95869954], [95876990, 95877056], [95879654, 95879757], [95887831, 95887993], [95888732, 95888914], [95889779, 95889874], [95897840, 95897937], [95905670, 95905774], [95906576, 95906692], [95907427, 95907680]]
ENST00000549136	[[95869846, 95869954], [95876990, 95877270]]	None
ENST00000549808	[[95878569, 95878649], [95879654, 95879757], [95887831, 95887993], [95888732, 95888925]]	[[95878618, 95878649], [95879654, 95879757], [95887831, 95887993], [95888732, 95888925]]
ENST00000546478	[[95879584, 95879757], [95887831, 95887890]]	None
NM_001317183	[[95867821, 95868106], [95869849, 95869954], [95879654, 95879757], [95887831, 95887993], [95888732, 95888914], [95889779, 95889874], [95897840, 95897937], [95905670, 95905774], [95906576, 95906692], [95907427, 95909615]]	[[95867955, 95868106], [95869849, 95869954], [95879654, 95879757], [95887831, 95887993], [95888732, 95888914], [95889779, 95889874], [95897840, 95897937], [95905670, 95905774], [95906576, 95906692], [95907427, 95907680]]
NM_001330246	[[95867821, 95868106], [95869849, 95869954], [95876990, 95877056], [95879654, 95879757], [95887831, 95887993], [95888732, 95888914], [95889779, 95889874], [95897840, 95897937], [95905670, 95905774], [95906576, 95906692], [95907427, 95909615]]	[[95867955, 95868106], [95869849, 95869954], [95876990, 95877056], [95879654, 95879757], [95887831, 95887993], [95888732, 95888914], [95889779, 95889874], [95897840, 95897937], [95905670, 95905774], [95906576, 95906692], [95907427, 95907680]]
NM_001317182	[[95867821, 95868106], [95869846, 95869954], [95876990, 95877056], [95879723, 95879757], [95887831, 95887993], [95888732, 95888914], [95889779, 95889874], [95897840, 95897937], [95905670, 95905774], [95906576, 95906692], [95907427, 95909615]]	[[95867955, 95868106], [95869846, 95869954], [95876990, 95877056], [95879723, 95879757], [95887831, 95887993], [95888732, 95888914], [95889779, 95889874], [95897840, 95897937], [95905670, 95905774], [95906576, 95906692], [95907427, 95907680]]
NR_133673	[[95867821, 95868106], [95869846, 95869954], [95876990, 95877056], [95879654, 95879757], [95887831, 95887993], [95888732, 95888914], [95889779, 95889874], [95897840, 95897937], [95906576, 95906692], [95907427, 95909615]]	None
NM_006838	[[95867821, 95868106], [95869846, 95869954], [95876990, 95877056], [95879654, 95879757], [95887831, 95887993], [95888732, 95888914], [95889779, 95889874], [95897840, 95897937], [95905670, 95905774], [95906576, 95906692], [95907427, 95909615]]	[[95867955, 95868106], [95869846, 95869954], [95876990, 95877056], [95879654, 95879757], [95887831, 95887993], [95888732, 95888914], [95889779, 95889874], [95897840, 95897937], [95905670, 95905774], [95906576, 95906692], [95907427, 95907680]]