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
ENST00000456829	[[123986068, 123986189], [123987272, 123987387], [123988203, 123988261], [123988379, 123988582], [123988895, 123989118], [123989239, 123989415], [123989681, 123989796], [123993666, 123993836], [123994072, 123994161], [123994366, 123994511], [123994943, 123995023], [124005626, 124005741], [124006835, 124007000], [124007280, 124007381], [124007721, 124007975], [124012304, 124012448], [124013148, 124013279], [124015943, 124016070], [124016572, 124018428]]	[[123988218, 123988261], [123988379, 123988582], [123988895, 123989118], [123989239, 123989415], [123989681, 123989796], [123993666, 123993836], [123994072, 123994161], [123994366, 123994511], [123994943, 123995023], [124005626, 124005741], [124006835, 124007000], [124007280, 124007381], [124007721, 124007975], [124012304, 124012448], [124013148, 124013279], [124015943, 124016070], [124016572, 124016652]]
ENST00000361352	[[123986110, 123986189], [123988203, 123988261], [123988379, 123988582], [123988895, 123989118], [123989239, 123989415], [123989681, 123989796], [123993666, 123993836], [123994072, 123994161], [123994366, 123994511], [123994943, 123995548]]	[[123988218, 123988261], [123988379, 123988582], [123988895, 123989118], [123989239, 123989415], [123989681, 123989796], [123993666, 123993836], [123994072, 123994161], [123994366, 123994511], [123994943, 123995027]]
ENST00000449321	[[123986110, 123986189], [123987272, 123987387], [123988203, 123988261], [123988379, 123988582], [123988895, 123989118], [123989239, 123989415], [123989681, 123989796], [123993666, 123993836], [123994072, 123994161], [123994366, 123994511], [123994943, 123995548]]	[[123988218, 123988261], [123988379, 123988582], [123988895, 123989118], [123989239, 123989415], [123989681, 123989796], [123993666, 123993836], [123994072, 123994161], [123994366, 123994511], [123994943, 123995027]]
ENST00000392748	[[123986110, 123986189], [123988203, 123988261], [123988379, 123988582], [123988895, 123989118], [123989239, 123989415], [123989681, 123989796], [123993666, 123993836], [123994072, 123994161], [123994366, 123994511], [123994943, 123995023], [124005626, 124005741], [124006835, 124007000], [124007280, 124007381], [124007721, 124007975], [124012304, 124012448], [124013148, 124013279], [124015943, 124016070], [124016572, 124017616]]	[[123988218, 123988261], [123988379, 123988582], [123988895, 123989118], [123989239, 123989415], [123989681, 123989796], [123993666, 123993836], [123994072, 123994161], [123994366, 123994511], [123994943, 123995023], [124005626, 124005741], [124006835, 124007000], [124007280, 124007381], [124007721, 124007975], [124012304, 124012448], [124013148, 124013279], [124015943, 124016070], [124016572, 124016652]]
ENST00000360334	[[123986110, 123986189], [123987272, 123987387], [123988203, 123988261], [123988379, 123988582], [123988895, 123989118], [123989239, 123989415], [123989681, 123989796], [123993666, 123993836], [123994072, 123994161], [123994366, 123994511], [124012304, 124012448], [124013148, 124013279], [124015943, 124016070], [124016572, 124017616]]	[[123988218, 123988261], [123988379, 123988582], [123988895, 123989118], [123989239, 123989415], [123989681, 123989796], [123993666, 123993836], [123994072, 123994161], [123994366, 123994511], [124012304, 124012421]]
ENST00000392744	[[123986156, 123987387], [123988073, 123988261], [123988379, 123988582], [123988895, 123989118], [123989239, 123989415], [123989681, 123989796], [123993666, 123993836], [123994072, 123994161], [123994366, 123994511], [123994943, 123995094]]	[[123988170, 123988261], [123988379, 123988582], [123988895, 123989118], [123989239, 123989415], [123989681, 123989796], [123993666, 123993836], [123994072, 123994161], [123994366, 123994511], [123994943, 123995027]]
ENST00000533623	[[123988201, 123988261], [123988379, 123988859]]	None
NM_198315	[[123986110, 123986189], [123988203, 123988261], [123988379, 123988582], [123988895, 123989118], [123989239, 123989415], [123989681, 123989796], [123993666, 123993836], [123994072, 123994161], [123994366, 123994511], [123994943, 123995543]]	[[123988218, 123988261], [123988379, 123988582], [123988895, 123989118], [123989239, 123989415], [123989681, 123989796], [123993666, 123993836], [123994072, 123994161], [123994366, 123994511], [123994943, 123995027]]
NM_014622	[[123986110, 123986189], [123988203, 123988261], [123988379, 123988582], [123988895, 123989118], [123989239, 123989415], [123989681, 123989796], [123993666, 123993836], [123994072, 123994161], [123994366, 123994511], [123994943, 123995023], [124005626, 124005741], [124006835, 124007000], [124007280, 124007381], [124007721, 124007975], [124012304, 124012448], [124013148, 124013279], [124015943, 124016070], [124016572, 124017619]]	[[123988218, 123988261], [123988379, 123988582], [123988895, 123989118], [123989239, 123989415], [123989681, 123989796], [123993666, 123993836], [123994072, 123994161], [123994366, 123994511], [123994943, 123995023], [124005626, 124005741], [124006835, 124007000], [124007280, 124007381], [124007721, 124007975], [124012304, 124012448], [124013148, 124013279], [124015943, 124016070], [124016572, 124016652]]
NM_001130142	[[123986110, 123986189], [123987272, 123987387], [123988203, 123988261], [123988379, 123988582], [123988895, 123989118], [123989239, 123989415], [123989681, 123989796], [123993666, 123993836], [123994072, 123994161], [123994366, 123994511], [123994943, 123995023], [124005626, 124005741], [124006835, 124007000], [124007280, 124007381], [124007721, 124007975], [124012304, 124012448], [124013148, 124013279], [124015943, 124016070], [124016572, 124017619]]	[[123988218, 123988261], [123988379, 123988582], [123988895, 123989118], [123989239, 123989415], [123989681, 123989796], [123993666, 123993836], [123994072, 123994161], [123994366, 123994511], [123994943, 123995023], [124005626, 124005741], [124006835, 124007000], [124007280, 124007381], [124007721, 124007975], [124012304, 124012448], [124013148, 124013279], [124015943, 124016070], [124016572, 124016652]]

Promoter

Chrom	Start	End	Description
chr11	123985831	123985858	CAGE_peak_2_at_VWA5A_5end
chr11	123986149	123986169	CAGE_peak_1_at_VWA5A_5end
chr11	123986579	123986582	CAGE_peak_8_at_VWA5A_5end
chr11	123988129	123988137	CAGE_peak_7_at_VWA5A_5end
chr11	123988154	123988160	CAGE_peak_12_at_VWA5A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I124177	124177450	124177678	0.27	[{'connected_gene': 'VWA5A', 'score': 34.66}, {'connected_gene': 'TBRG1', 'score': 3.32}, {'connected_gene': 'OR8B12', 'score': 2.65}, {'connected_gene': 'OR10D3', 'score': 0.44}, {'connected_gene': 'OR10D1P', 'score': 0.37}]
chr11	GH11I124078	124078376	124081724	1.24	[{'connected_gene': 'VWA5A', 'score': 72.95}, {'connected_gene': 'ZNF202', 'score': 17.53}, {'connected_gene': 'SPA17', 'score': 5.41}, {'connected_gene': 'OR8G2P', 'score': 1.83}, {'connected_gene': 'OR8B12', 'score': 1.47}, {'connected_gene': 'OR8D1', 'score': 1.32}, {'connected_gene': 'OR8A1', 'score': 1.23}, {'connected_gene': 'LOC105369545', 'score': 0.44}, {'connected_gene': 'GC11M124060', 'score': 0.39}]
chr11	GH11I124191	124191937	124192241	0.43	[{'connected_gene': 'VWA5A', 'score': 42.31}, {'connected_gene': 'OR8A1', 'score': 4.27}, {'connected_gene': 'OR6X1', 'score': 3.16}, {'connected_gene': 'OR10G7', 'score': 3.13}, {'connected_gene': 'OR8G2P', 'score': 3.07}, {'connected_gene': 'OR8B12', 'score': 2.58}, {'connected_gene': 'OR4D5', 'score': 2.43}, {'connected_gene': 'OR10G4', 'score': 2.33}, {'connected_gene': 'OR8G1', 'score': 2.29}, {'connected_gene': 'OR6M1', 'score': 2.28}, {'connected_gene': 'OR6T1', 'score': 1.99}, {'connected_gene': 'OR8B8', 'score': 1.94}, {'connected_gene': 'OR8D4', 'score': 1.49}, {'connected_gene': 'TBRG1', 'score': 1.32}, {'connected_gene': 'OR8D2', 'score': 1.31}, {'connected_gene': 'OR8D1', 'score': 1.24}, {'connected_gene': 'GC11P124186', 'score': 0.44}, {'connected_gene': 'OR8F1P', 'score': 0.37}]
chr11	GH11I124190	124190176	124191284	0.77	[{'connected_gene': 'VWA5A', 'score': 31.04}, {'connected_gene': 'GC11P124186', 'score': 0.44}, {'connected_gene': 'OR8F1P', 'score': 0.37}]
chr11	GH11I124077	124077590	124077985	0.49	[{'connected_gene': 'VWA5A', 'score': 9.7}, {'connected_gene': 'OR8D4', 'score': 3.48}, {'connected_gene': 'OR4D5', 'score': 1.29}, {'connected_gene': 'LOC105369545', 'score': 0.44}, {'connected_gene': 'GC11M124060', 'score': 0.44}]
chr11	GH11I124193	124193281	124195709	0.98	[{'connected_gene': 'VWA5A', 'score': 31.14}, {'connected_gene': 'OR8D1', 'score': 7.97}, {'connected_gene': 'SPA17', 'score': 5.23}, {'connected_gene': 'GC11P124186', 'score': 0.44}, {'connected_gene': 'OR8F1P', 'score': 0.39}]
chr11	GH11I124330	124330165	124330314	0.54	[{'connected_gene': 'VWA5A', 'score': 9.85}, {'connected_gene': 'OR8D1', 'score': 5.81}, {'connected_gene': 'OR8B7P', 'score': 0.77}, {'connected_gene': 'GC11M124339', 'score': 0.44}]
chr11	GH11I124173	124173614	124174844	0.62	[{'connected_gene': 'VWA5A', 'score': 24.13}, {'connected_gene': 'OR8D1', 'score': 9.44}, {'connected_gene': 'OR10D3', 'score': 0.44}, {'connected_gene': 'OR10D1P', 'score': 0.37}]
chr11	GH11I124285	124285096	124286942	0.46	[{'connected_gene': 'VWA5A', 'score': 29.43}, {'connected_gene': 'OR8D1', 'score': 7.96}, {'connected_gene': 'OR8G5', 'score': 5.08}, {'connected_gene': 'CCDC15', 'score': 4.81}, {'connected_gene': 'SLC5A4P1', 'score': 0.39}]
chr11	GH11I124275	124275760	124277042	1.17	[{'connected_gene': 'VWA5A', 'score': 43.2}, {'connected_gene': 'OR8D1', 'score': 7.93}, {'connected_gene': 'OR8G5', 'score': 6.12}, {'connected_gene': 'OR8G2P', 'score': 2.08}, {'connected_gene': 'TBRG1', 'score': 1.88}, {'connected_gene': 'OR8B12', 'score': 1.6}, {'connected_gene': 'SLC5A4P1', 'score': 0.77}]
chr11	GH11I124113	124113644	124114402	0.75	[{'connected_gene': 'VWA5A', 'score': 579.5}, {'connected_gene': 'OR8G5', 'score': 4.65}, {'connected_gene': 'OR10N1P', 'score': 0.77}, {'connected_gene': 'GC11M124091', 'score': 0.34}]
chr11	GH11I124070	124070711	124071657	1.24	[{'connected_gene': 'VWA5A', 'score': 10.71}, {'connected_gene': 'OR8B12', 'score': 3.04}, {'connected_gene': 'OR8G2P', 'score': 2.31}, {'connected_gene': 'GC11M124060', 'score': 0.77}, {'connected_gene': 'LOC105369545', 'score': 0.37}]
chr11	GH11I124074	124074995	124075348	0.38	[{'connected_gene': 'VWA5A', 'score': 23.54}, {'connected_gene': 'OR8B12', 'score': 1.39}, {'connected_gene': 'GC11M124060', 'score': 0.44}, {'connected_gene': 'LOC105369545', 'score': 0.39}]
chr11	GH11I124071	124071801	124072000	0.46	[{'connected_gene': 'VWA5A', 'score': 10.71}, {'connected_gene': 'GC11M124060', 'score': 0.77}, {'connected_gene': 'LOC105369545', 'score': 0.39}]
chr11	GH11I124114	124114619	124116728	1.93	[{'connected_gene': 'VWA5A', 'score': 558.02}, {'connected_gene': 'GC11M124091', 'score': 0.34}]
chr11	GH11I124206	124206955	124208003	0.98	[{'connected_gene': 'OR8F1P', 'score': 550.77}, {'connected_gene': 'VWA5A', 'score': 15.75}, {'connected_gene': 'OR8G1', 'score': 13.91}, {'connected_gene': 'OR8G3P', 'score': 0.77}]
chr11	GH11I124224	124224555	124225645	0.97	[{'connected_gene': 'OR8G2P', 'score': 550.77}, {'connected_gene': 'GC11P124227', 'score': 550.77}, {'connected_gene': 'VWA5A', 'score': 23.29}, {'connected_gene': 'MSANTD2', 'score': 20.59}, {'connected_gene': 'ZNF202', 'score': 18.79}, {'connected_gene': 'TMEM218', 'score': 14.66}, {'connected_gene': 'ENSG00000254509', 'score': 14.18}, {'connected_gene': 'LOC102724410', 'score': 0.77}]
chr11	GH11I124241	124241180	124241298	0.37	[{'connected_gene': 'OR8G5', 'score': 550.77}, {'connected_gene': 'OR8G1', 'score': 550.77}, {'connected_gene': 'TMEM225', 'score': 79.33}, {'connected_gene': 'SPA17', 'score': 15.37}, {'connected_gene': 'VWA5A', 'score': 9.71}, {'connected_gene': 'GC11P124250', 'score': 0.44}]
chr11	GH11I124086	124086647	124086833	0.44	[{'connected_gene': 'LOC105369545', 'score': 550.77}, {'connected_gene': 'VWA5A', 'score': 12.35}, {'connected_gene': 'TMEM225', 'score': 3.56}, {'connected_gene': 'SCN3B', 'score': 2.47}, {'connected_gene': 'OR6M1', 'score': 1.93}, {'connected_gene': 'OR8D1', 'score': 1.55}, {'connected_gene': 'OR10D4P', 'score': 0.44}]
chr11	GH11I124069	124069401	124070200	1.03	[{'connected_gene': 'GC11M124060', 'score': 550.77}, {'connected_gene': 'VWA5A', 'score': 17.53}, {'connected_gene': 'LOC105369545', 'score': 0.37}]
chr11	GH11I124068	124068994	124069259	0.46	[{'connected_gene': 'GC11M124060', 'score': 550.77}, {'connected_gene': 'VWA5A', 'score': 10.7}, {'connected_gene': 'LOC105369545', 'score': 0.37}]