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
ENST00000486442	[[23608087, 23608651], [23698429, 23698537], [23785021, 23785351], [23862008, 23862150], [23865207, 23865720], [23907268, 23907407], [23914543, 23914746], [23916138, 23916398], [23918492, 23918691], [23918820, 23919003], [23919202, 23919383], [23926055, 23926249], [23926588, 23926733], [23929350, 23931476]]	[[23785066, 23785351], [23862008, 23862150], [23865207, 23865720], [23907268, 23907407], [23914543, 23914746], [23916138, 23916398], [23918492, 23918691], [23918820, 23919003], [23919202, 23919383], [23926055, 23926249], [23926588, 23926733], [23929350, 23929534]]
ENST00000489446	[[23755454, 23755490], [23785021, 23785351], [23862008, 23862150], [23865207, 23867155]]	None
ENST00000288548	[[23865261, 23865720], [23907268, 23907407], [23914543, 23914746], [23916138, 23916398], [23918492, 23918691], [23918820, 23919003], [23919202, 23920802]]	[[23865261, 23865720], [23907268, 23907407], [23914543, 23914746], [23916138, 23916398], [23918492, 23918691], [23918820, 23919003], [23919202, 23919387]]
ENST00000471654	[[23911654, 23914746], [23916138, 23916398], [23918492, 23918691], [23918820, 23919003], [23919202, 23919383], [23926055, 23926249], [23926588, 23926733], [23929350, 23931481]]	None
NM_052920	[[23608297, 23608651], [23698429, 23698537], [23785021, 23785351], [23862008, 23862150], [23865207, 23865720], [23907268, 23907407], [23914543, 23914746], [23916138, 23916398], [23918492, 23918691], [23918820, 23919003], [23919202, 23919383], [23926055, 23926249], [23926588, 23926733], [23929350, 23931483]]	[[23785066, 23785351], [23862008, 23862150], [23865207, 23865720], [23907268, 23907407], [23914543, 23914746], [23916138, 23916398], [23918492, 23918691], [23918820, 23919003], [23919202, 23919383], [23926055, 23926249], [23926588, 23926733], [23929350, 23929534]]

Promoter

Chrom	Start	End	Description
chr2	23608041	23608057	CAGE_peak_1_at_KLHL29_5end
chr2	23608064	23608081	CAGE_peak_2_at_KLHL29_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I023636	23636601	23638039	0.72	[{'connected_gene': 'NCOA1', 'score': 4.59}, {'connected_gene': 'GC02P023631', 'score': 0.44}, {'connected_gene': 'GC02P023666', 'score': 0.31}, {'connected_gene': 'KLHL29', 'score': 0.07}]
chr2	GH02I023607	23607571	23608692	0.2	[{'connected_gene': 'FAM228A', 'score': 4.37}, {'connected_gene': 'GC02M023617', 'score': 0.44}, {'connected_gene': 'GC02M023539', 'score': 0.21}, {'connected_gene': 'KLHL29', 'score': 0.07}]
chr2	GH02I023601	23601512	23603272	1	[{'connected_gene': 'FAM228A', 'score': 4.41}, {'connected_gene': 'GC02M023617', 'score': 0.37}, {'connected_gene': 'GC02M023539', 'score': 0.22}, {'connected_gene': 'KLHL29', 'score': 0.08}]
chr2	GH02I023513	23513247	23513885	0.7	[{'connected_gene': 'ATAD2B', 'score': 10.66}, {'connected_gene': 'GC02P023506', 'score': 0.44}, {'connected_gene': 'LOC105374325', 'score': 0.39}, {'connected_gene': 'KLHL29', 'score': 0.13}]
chr2	GH02I023548	23548257	23551204	1.1	[{'connected_gene': 'SF3B6', 'score': 4.79}, {'connected_gene': 'GC02M023539', 'score': 0.44}, {'connected_gene': 'GC02M023617', 'score': 0.2}, {'connected_gene': 'KLHL29', 'score': 0.1}]
chr2	GH02I023697	23697403	23698372	0.38	[{'connected_gene': 'FAM228B', 'score': 17.97}, {'connected_gene': 'UBXN2A', 'score': 14.29}, {'connected_gene': 'GC02P023689', 'score': 0.44}, {'connected_gene': 'GC02P023706', 'score': 0.44}, {'connected_gene': 'ATAD2B', 'score': 0.07}, {'connected_gene': 'KLHL29', 'score': 0.06}]
chr2	GH02I023669	23669010	23670793	0.72	[{'connected_gene': 'FKBP1B', 'score': 9.46}, {'connected_gene': 'PFN4', 'score': 7.19}, {'connected_gene': 'FAM228A', 'score': 4.37}, {'connected_gene': 'GC02P023666', 'score': 0.77}, {'connected_gene': 'ENSG00000283031', 'score': 0.37}, {'connected_gene': 'KLHL29', 'score': 0.06}]
chr2	GH02I023679	23679049	23679487	0.39	[{'connected_gene': 'UBXN2A', 'score': 1.24}, {'connected_gene': 'ENSG00000283031', 'score': 0.44}, {'connected_gene': 'GC02P023666', 'score': 0.39}, {'connected_gene': 'KLHL29', 'score': 0.06}]
chr2	GH02I023563	23563312	23565556	0.92	[{'connected_gene': 'KLHL29', 'score': 5.57}, {'connected_gene': 'SF3B6', 'score': 4.79}, {'connected_gene': 'GC02M023539', 'score': 0.34}, {'connected_gene': 'GC02M023617', 'score': 0.23}]
chr2	GH02I023434	23434329	23436929	0.66	[{'connected_gene': 'KLHL29', 'score': 10.91}, {'connected_gene': 'ENSG00000235497', 'score': 10.91}, {'connected_gene': 'FAM228B', 'score': 4.41}, {'connected_gene': 'GC02P023420', 'score': 0.37}, {'connected_gene': 'GC02M023498', 'score': 0.2}]
chr2	GH02I023384	23384173	23386801	1.76	[{'connected_gene': 'KLHL29', 'score': 550.77}, {'connected_gene': 'PFN4', 'score': 4.32}, {'connected_gene': 'GC02P023420', 'score': 0.29}]
chr2	GH02I023429	23429909	23431377	0.43	[{'connected_gene': 'KLHL29', 'score': 11.98}, {'connected_gene': 'ENSG00000235497', 'score': 11.98}, {'connected_gene': 'GC02P023420', 'score': 0.39}, {'connected_gene': 'GC02M023498', 'score': 0.19}]
chr2	GH02I023556	23556628	23557634	0.31	[{'connected_gene': 'KLHL29', 'score': 5.21}, {'connected_gene': 'GC02M023539', 'score': 0.39}, {'connected_gene': 'GC02M023617', 'score': 0.21}]
chr2	GH02I023459	23459071	23459130	0.23	[{'connected_gene': 'KLHL29', 'score': 2.92}, {'connected_gene': 'GC02P023420', 'score': 0.28}, {'connected_gene': 'GC02M023498', 'score': 0.26}]
chr2	GH02I023425	23425287	23428056	0.77	[{'connected_gene': 'KLHL29', 'score': 12.0}, {'connected_gene': 'ENSG00000235497', 'score': 11.98}, {'connected_gene': 'GC02P023420', 'score': 0.44}, {'connected_gene': 'GC02M023498', 'score': 0.18}]
chr2	GH02I023410	23410750	23413273	1.19	[{'connected_gene': 'KLHL29', 'score': 561.63}, {'connected_gene': 'ENSG00000235497', 'score': 11.61}, {'connected_gene': 'GC02P023420', 'score': 0.44}]
chr2	GH02I023387	23387072	23387440	0.63	[{'connected_gene': 'KLHL29', 'score': 2.99}, {'connected_gene': 'GC02P023420', 'score': 0.29}]
chr2	GH02I023663	23663201	23663599	0.38	[{'connected_gene': 'LOC105374328', 'score': 5.39}, {'connected_gene': 'GC02P023666', 'score': 0.77}, {'connected_gene': 'GC02P023631', 'score': 0.29}, {'connected_gene': 'KLHL29', 'score': 0.06}]
chr2	GH02I023498	23498106	23498676	0.2	[{'connected_gene': 'LOC105374325', 'score': 12.11}, {'connected_gene': 'KLHL29', 'score': 11.05}, {'connected_gene': 'ENSG00000235497', 'score': 11.04}, {'connected_gene': 'FAM228B', 'score': 4.02}, {'connected_gene': 'GC02M023498', 'score': 0.77}, {'connected_gene': 'GC02P023420', 'score': 0.18}]
chr2	GH02I023497	23497018	23497487	0.92	[{'connected_gene': 'LOC105374325', 'score': 12.11}, {'connected_gene': 'KLHL29', 'score': 11.05}, {'connected_gene': 'ENSG00000235497', 'score': 11.04}, {'connected_gene': 'GC02M023498', 'score': 0.77}, {'connected_gene': 'GC02P023420', 'score': 0.18}]
chr2	GH02I023531	23531817	23533600	0.92	[{'connected_gene': 'LOC105374325', 'score': 5.32}, {'connected_gene': 'GC02M023539', 'score': 0.39}, {'connected_gene': 'GC02P023506', 'score': 0.31}, {'connected_gene': 'KLHL29', 'score': 0.11}]
chr2	GH02I023520	23519351	23519500	0.31	[{'connected_gene': 'LOC105374325', 'score': 0.77}, {'connected_gene': 'GC02P023506', 'score': 0.39}, {'connected_gene': 'KLHL29', 'score': 0.12}]
chr2	GH02I023522	23522879	23525659	1.07	[{'connected_gene': 'LOC105374325', 'score': 557.47}, {'connected_gene': 'GC02P023506', 'score': 0.37}, {'connected_gene': 'KLHL29', 'score': 0.12}]
chr2	GH02I023530	23530858	23531657	0.31	[{'connected_gene': 'LOC105374325', 'score': 0.44}, {'connected_gene': 'GC02M023539', 'score': 0.39}, {'connected_gene': 'GC02P023506', 'score': 0.31}, {'connected_gene': 'KLHL29', 'score': 0.11}]
chr2	GH02I023519	23519505	23520540	1.16	[{'connected_gene': 'LOC105374325', 'score': 0.77}, {'connected_gene': 'GC02P023506', 'score': 0.39}, {'connected_gene': 'KLHL29', 'score': 0.12}]
chr2	GH02I023518	23518238	23519290	0.38	[{'connected_gene': 'LOC105374325', 'score': 7.04}, {'connected_gene': 'ENSG00000223754', 'score': 5.49}, {'connected_gene': 'GC02P023506', 'score': 0.39}, {'connected_gene': 'KLHL29', 'score': 0.12}]
chr2	GH02I023700	23700435	23700575	0.22	[{'connected_gene': 'GC02P023706', 'score': 0.44}, {'connected_gene': 'GC02P023689', 'score': 0.39}, {'connected_gene': 'ATAD2B', 'score': 0.07}, {'connected_gene': 'KLHL29', 'score': 0.06}]
chr2	GH02I023698	23698911	23698960	0.46	[{'connected_gene': 'GC02P023689', 'score': 0.44}, {'connected_gene': 'GC02P023706', 'score': 0.44}, {'connected_gene': 'ATAD2B', 'score': 0.07}, {'connected_gene': 'KLHL29', 'score': 0.06}]
chr2	GH02I023506	23506312	23508617	0.69	[{'connected_gene': 'GC02P023506', 'score': 550.77}, {'connected_gene': 'ATAD2B', 'score': 16.34}, {'connected_gene': 'LOC105374325', 'score': 0.37}, {'connected_gene': 'KLHL29', 'score': 0.13}]
chr2	GH02I023350	23350874	23352572	1	[{'connected_gene': 'ENSG00000235497', 'score': 10.97}, {'connected_gene': 'KLHL29', 'score': 10.96}, {'connected_gene': 'ENSG00000233714', 'score': 0.77}, {'connected_gene': 'ENSG00000223634', 'score': 0.44}]
chr2	GH02I023597	23597502	23599303	0.2	[{'connected_gene': 'GC02M023617', 'score': 0.37}, {'connected_gene': 'GC02M023539', 'score': 0.23}, {'connected_gene': 'KLHL29', 'score': 0.08}]
chr2	GH02I023560	23560269	23560291	0.22	[{'connected_gene': 'GC02M023539', 'score': 0.37}, {'connected_gene': 'GC02M023617', 'score': 0.22}, {'connected_gene': 'KLHL29', 'score': 0.1}]
chr2	GH02I023567	23567973	23570504	0.43	[{'connected_gene': 'GC02M023539', 'score': 0.31}, {'connected_gene': 'GC02M023617', 'score': 0.25}, {'connected_gene': 'KLHL29', 'score': 0.09}]
chr2	GH02I023575	23575604	23576040	0.2	[{'connected_gene': 'GC02M023539', 'score': 0.29}, {'connected_gene': 'GC02M023617', 'score': 0.26}, {'connected_gene': 'KLHL29', 'score': 0.08}]
chr2	GH02I023651	23651271	23651420	0.63	[{'connected_gene': 'GC02P023666', 'score': 0.39}, {'connected_gene': 'GC02P023631', 'score': 0.37}, {'connected_gene': 'KLHL29', 'score': 0.06}]
chr2	GH02I023570	23570927	23572372	0.51	[{'connected_gene': 'GC02M023539', 'score': 0.31}, {'connected_gene': 'GC02M023617', 'score': 0.25}, {'connected_gene': 'KLHL29', 'score': 0.09}]
chr2	GH02I023583	23583666	23584732	0.58	[{'connected_gene': 'GC02M023617', 'score': 0.29}, {'connected_gene': 'GC02M023539', 'score': 0.26}, {'connected_gene': 'KLHL29', 'score': 0.08}]
chr2	GH02I023544	23544913	23546383	0.66	[{'connected_gene': 'GC02M023539', 'score': 550.77}, {'connected_gene': 'GC02P023506', 'score': 0.28}, {'connected_gene': 'GC02M023617', 'score': 0.19}, {'connected_gene': 'KLHL29', 'score': 0.1}]
chr2	GH02I023592	23592891	23594821	0.31	[{'connected_gene': 'GC02M023617', 'score': 0.34}, {'connected_gene': 'GC02M023539', 'score': 0.23}, {'connected_gene': 'KLHL29', 'score': 0.08}]
chr2	GH02I023553	23553833	23554635	0.71	[{'connected_gene': 'GC02M023539', 'score': 0.39}, {'connected_gene': 'GC02M023617', 'score': 0.21}, {'connected_gene': 'KLHL29', 'score': 0.1}]
chr2	GH02I023449	23449930	23450079	0.54	[{'connected_gene': 'GC02P023420', 'score': 0.31}, {'connected_gene': 'GC02M023498', 'score': 0.23}, {'connected_gene': 'KLHL29', 'score': 0.21}]
chr2	GH02I023587	23587553	23588727	0.49	[{'connected_gene': 'GC02M023617', 'score': 0.31}, {'connected_gene': 'GC02M023539', 'score': 0.26}, {'connected_gene': 'KLHL29', 'score': 0.08}]
chr2	GH02I023579	23579196	23579858	0.38	[{'connected_gene': 'GC02M023539', 'score': 0.28}, {'connected_gene': 'GC02M023617', 'score': 0.28}, {'connected_gene': 'KLHL29', 'score': 0.08}]
chr2	GH02I023480	23480571	23482067	0.97	[{'connected_gene': 'GC02M023498', 'score': 0.34}, {'connected_gene': 'GC02P023420', 'score': 0.21}, {'connected_gene': 'KLHL29', 'score': 0.15}]
chr2	GH02I023486	23486284	23487645	0.58	[{'connected_gene': 'GC02M023498', 'score': 0.37}, {'connected_gene': 'GC02P023420', 'score': 0.2}, {'connected_gene': 'KLHL29', 'score': 0.15}]
chr2	GH02I023452	23452778	23454134	0.84	[{'connected_gene': 'GC02P023420', 'score': 0.29}, {'connected_gene': 'GC02M023498', 'score': 0.25}, {'connected_gene': 'KLHL29', 'score': 0.2}]
chr2	GH02I023589	23589318	23592090	0.43	[{'connected_gene': 'GC02M023617', 'score': 0.31}, {'connected_gene': 'GC02M023539', 'score': 0.25}, {'connected_gene': 'KLHL29', 'score': 0.08}]
chr2	GH02I023585	23585330	23586490	0.51	[{'connected_gene': 'GC02M023617', 'score': 0.29}, {'connected_gene': 'GC02M023539', 'score': 0.26}, {'connected_gene': 'KLHL29', 'score': 0.08}]
chr2	GH02I023417	23417643	23420372	0.74	[{'connected_gene': 'GC02P023420', 'score': 550.77}, {'connected_gene': 'KLHL29', 'score': 0.29}]
chr2	GH02I023595	23595106	23597206	0.89	[{'connected_gene': 'GC02M023617', 'score': 0.34}, {'connected_gene': 'GC02M023539', 'score': 0.23}, {'connected_gene': 'KLHL29', 'score': 0.08}]
chr2	GH02I023403	23403772	23405174	1.02	[{'connected_gene': 'ENSG00000235497', 'score': 12.51}, {'connected_gene': 'GC02P023420', 'score': 0.37}, {'connected_gene': 'KLHL29', 'score': 0.37}]
chr2	GH02I023608	23607142	23607260	0.31	[{'connected_gene': 'GC02M023617', 'score': 0.39}, {'connected_gene': 'GC02M023539', 'score': 0.21}, {'connected_gene': 'KLHL29', 'score': 0.07}]
chr2	GH02I023574	23574728	23575468	0.2	[{'connected_gene': 'GC02M023539', 'score': 0.29}, {'connected_gene': 'GC02M023617', 'score': 0.26}, {'connected_gene': 'KLHL29', 'score': 0.09}]
chr2	GH02I023566	23566871	23567020	0.66	[{'connected_gene': 'GC02M023539', 'score': 0.34}, {'connected_gene': 'GC02M023617', 'score': 0.23}, {'connected_gene': 'KLHL29', 'score': 0.09}]
chr2	GH02I023487	23487891	23488040	0.63	[{'connected_gene': 'GC02M023498', 'score': 0.39}, {'connected_gene': 'GC02P023420', 'score': 0.2}, {'connected_gene': 'KLHL29', 'score': 0.15}]
chr2	GH02I023502	23502024	23502704	0.51	[{'connected_gene': 'GC02M023498', 'score': 550.77}, {'connected_gene': 'LOC105374325', 'score': 12.14}, {'connected_gene': 'KLHL29', 'score': 11.04}, {'connected_gene': 'ENSG00000235497', 'score': 11.04}, {'connected_gene': 'GC02M023502', 'score': 0.77}]
chr2	GH02I023503	23503146	23504112	0.74	[{'connected_gene': 'GC02M023502', 'score': 550.77}, {'connected_gene': 'GC02M023498', 'score': 550.77}, {'connected_gene': 'LOC105374325', 'score': 0.34}, {'connected_gene': 'KLHL29', 'score': 0.13}]
chr2	GH02I023541	23541341	23542704	0.79	[{'connected_gene': 'GC02M023539', 'score': 550.77}, {'connected_gene': 'LOC105374325', 'score': 0.37}, {'connected_gene': 'GC02P023506', 'score': 0.28}, {'connected_gene': 'KLHL29', 'score': 0.1}]
chr2	GH02I023616	23616097	23619508	0.97	[{'connected_gene': 'GC02M023617', 'score': 550.77}, {'connected_gene': 'LOC102723401', 'score': 550.77}, {'connected_gene': 'GC02M023539', 'score': 0.19}, {'connected_gene': 'KLHL29', 'score': 0.07}]