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
ENST00000356388	[[65537984, 65541303], [65543867, 65544017], [65559120, 65559185], [65561738, 65561907], [65571852, 65572030], [65659095, 65659311]]	[[65540634, 65541303], [65543867, 65544017], [65559120, 65559185], [65561738, 65561907], [65571852, 65572030], [65659095, 65659121]]
ENST00000443619	[[65540126, 65541303], [65543867, 65544017], [65559120, 65559185], [65561738, 65561907], [65571852, 65572030], [65593723, 65593784]]	[[65540634, 65541303], [65543867, 65544017], [65559120, 65559185], [65561738, 65561907], [65571852, 65572030], [65593723, 65593740]]
ENST00000452315	[[65540638, 65541303], [65543867, 65544017], [65559120, 65559185], [65561738, 65561907], [65571852, 65572030], [65604746, 65604884]]	[[65540638, 65541303], [65543867, 65544017], [65559120, 65559185], [65561738, 65561907], [65571852, 65572030], [65604746, 65604817]]
ENST00000421087	[[65540836, 65541303], [65559120, 65559185], [65561738, 65561907]]	[[65540836, 65541303], [65559120, 65559185], [65561738, 65561907]]
ENST00000474228	[[65543867, 65544017], [65559120, 65559185], [65561248, 65561399], [65561738, 65561907], [65571852, 65572030], [65593723, 65593886]]	None
ENST00000426832	[[65559337, 65559434], [65561248, 65561399], [65561738, 65561907], [65571852, 65571933]]	[[65561337, 65561399], [65561738, 65561907], [65571852, 65571933]]
ENST00000440972	[[65561762, 65561907], [65571852, 65572030], [65659095, 65659218], [65659662, 65659771]]	[[65561762, 65561907], [65571852, 65572030], [65659095, 65659121]]
ENST00000427238	[[65571329, 65571728], [65571852, 65571920]]	[[65571653, 65571728], [65571852, 65571920]]
NM_001128210	[[65537984, 65541303], [65543867, 65544017], [65559120, 65559185], [65561738, 65561907], [65571852, 65572030], [65593723, 65593931]]	[[65540634, 65541303], [65543867, 65544017], [65559120, 65559185], [65561738, 65561907], [65571852, 65572030], [65593723, 65593740]]
NM_181784	[[65537984, 65541303], [65543867, 65544017], [65559120, 65559185], [65561738, 65561907], [65571852, 65572030], [65659095, 65659656]]	[[65540634, 65541303], [65543867, 65544017], [65559120, 65559185], [65561738, 65561907], [65571852, 65572030], [65659095, 65659121]]

Promoter

Chrom	Start	End	Description
chr2	65593758	65593771	CAGE_peak_9_at_SPRED2_5end
chr2	65593786	65593817	CAGE_peak_8_at_SPRED2_5end
chr2	65593835	65593877	CAGE_peak_4_at_SPRED2_5end
chr2	65593906	65593917	CAGE_peak_11_at_SPRED2_5end
chr2	65659469	65659483	CAGE_peak_3_at_SPRED2_5end
chr2	65659521	65659528	CAGE_peak_7_at_SPRED2_5end
chr2	65659637	65659690	CAGE_peak_1_at_SPRED2_5end
chr2	65659725	65659739	CAGE_peak_2_at_SPRED2_5end
chr2	65659762	65659774	CAGE_peak_6_at_SPRED2_5end
chr2	65659885	65659916	CAGE_peak_5_at_SPRED2_5end
chr2	65660107	65660124	CAGE_peak_16_at_SPRED2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I065429	65429556	65433601	2.63	[{'connected_gene': 'SPRED2', 'score': 554.56}, {'connected_gene': 'LOC101927533', 'score': 23.97}, {'connected_gene': 'LOC105374780', 'score': 22.76}, {'connected_gene': 'AFTPH', 'score': 10.81}, {'connected_gene': 'SERTAD2', 'score': 9.72}, {'connected_gene': 'SLC1A4', 'score': 1.88}, {'connected_gene': 'GC02P065427', 'score': 0.77}]
chr2	GH02I065362	65362850	65368522	1.93	[{'connected_gene': 'SPRED2', 'score': 561.44}, {'connected_gene': 'LOC101927533', 'score': 16.88}, {'connected_gene': 'LOC105374780', 'score': 11.24}, {'connected_gene': 'GC02P065373', 'score': 0.44}, {'connected_gene': 'GC02M065341', 'score': 0.34}]
chr2	GH02I065265	65265167	65265336	0.72	[{'connected_gene': 'SPRED2', 'score': 11.27}, {'connected_gene': 'ACTR2', 'score': 11.24}, {'connected_gene': 'GC02P065254', 'score': 0.39}, {'connected_gene': 'GC02P065309', 'score': 0.26}]
chr2	GH02I065281	65281783	65283122	0.59	[{'connected_gene': 'SPRED2', 'score': 11.82}, {'connected_gene': 'GC02P065309', 'score': 0.31}, {'connected_gene': 'GC02P065254', 'score': 0.31}]
chr2	GH02I065326	65326267	65326720	0.38	[{'connected_gene': 'SPRED2', 'score': 10.56}, {'connected_gene': 'GC02P065309', 'score': 0.37}, {'connected_gene': 'GC02M065341', 'score': 0.37}]
chr2	GH02I065385	65385177	65385762	0.49	[{'connected_gene': 'SPRED2', 'score': 11.4}, {'connected_gene': 'ENSG00000232693', 'score': 0.77}, {'connected_gene': 'GC02P065373', 'score': 0.39}, {'connected_gene': 'GC02P065427', 'score': 0.26}]
chr2	GH02I065275	65275207	65275356	0.46	[{'connected_gene': 'SPRED2', 'score': 11.11}, {'connected_gene': 'GC02P065254', 'score': 0.34}, {'connected_gene': 'GC02P065309', 'score': 0.29}]
chr2	GH02I065314	65314736	65317251	0.56	[{'connected_gene': 'SPRED2', 'score': 4.22}, {'connected_gene': 'GC02P065309', 'score': 0.44}, {'connected_gene': 'GC02M065341', 'score': 0.31}]
chr2	GH02I065349	65349437	65352056	1.25	[{'connected_gene': 'LOC105374780', 'score': 11.64}, {'connected_gene': 'GC02M065341', 'score': 0.44}, {'connected_gene': 'GC02P065373', 'score': 0.34}, {'connected_gene': 'SPRED2', 'score': 0.18}]
chr2	GH02I065417	65417967	65418438	0.38	[{'connected_gene': 'LOC105374780', 'score': 19.86}, {'connected_gene': 'GC02P065427', 'score': 0.44}, {'connected_gene': 'SPRED2', 'score': 0.39}, {'connected_gene': 'ENSG00000232693', 'score': 0.28}]
chr2	GH02I065408	65408744	65409581	0.38	[{'connected_gene': 'LOC105374780', 'score': 7.93}, {'connected_gene': 'GC02P065427', 'score': 0.37}, {'connected_gene': 'SPRED2', 'score': 0.34}, {'connected_gene': 'ENSG00000232693', 'score': 0.31}]
chr2	GH02I065413	65413204	65414928	0.66	[{'connected_gene': 'LOC105374780', 'score': 9.71}, {'connected_gene': 'GC02P065427', 'score': 0.39}, {'connected_gene': 'SPRED2', 'score': 0.37}, {'connected_gene': 'ENSG00000232693', 'score': 0.29}]
chr2	GH02I065400	65400005	65400944	0.2	[{'connected_gene': 'LOC105374780', 'score': 12.46}, {'connected_gene': 'ENSG00000232693', 'score': 0.37}, {'connected_gene': 'GC02P065427', 'score': 0.31}, {'connected_gene': 'SPRED2', 'score': 0.29}]
chr2	GH02I065416	65416703	65417694	0.74	[{'connected_gene': 'LOC105374780', 'score': 22.94}, {'connected_gene': 'GC02P065427', 'score': 0.39}, {'connected_gene': 'SPRED2', 'score': 0.37}, {'connected_gene': 'ENSG00000232693', 'score': 0.28}]
chr2	GH02I065411	65411173	65412800	0.89	[{'connected_gene': 'LOC105374780', 'score': 14.74}, {'connected_gene': 'GC02P065427', 'score': 0.37}, {'connected_gene': 'SPRED2', 'score': 0.34}, {'connected_gene': 'ENSG00000232693', 'score': 0.29}]
chr2	GH02I065418	65418832	65420096	0.2	[{'connected_gene': 'LOC105374780', 'score': 23.51}, {'connected_gene': 'GC02P065427', 'score': 0.44}, {'connected_gene': 'SPRED2', 'score': 0.39}, {'connected_gene': 'ENSG00000232693', 'score': 0.28}]
chr2	GH02I065420	65420377	65422342	1.26	[{'connected_gene': 'LOC105374780', 'score': 20.5}, {'connected_gene': 'LOC101927533', 'score': 4.68}, {'connected_gene': 'GC02P065427', 'score': 0.44}, {'connected_gene': 'SPRED2', 'score': 0.39}, {'connected_gene': 'ENSG00000232693', 'score': 0.26}]
chr2	GH02I065356	65356987	65362300	1.34	[{'connected_gene': 'LOC101927533', 'score': 16.92}, {'connected_gene': 'SPRED2', 'score': 11.67}, {'connected_gene': 'LOC105374780', 'score': 11.65}, {'connected_gene': 'GC02P065373', 'score': 0.39}, {'connected_gene': 'GC02M065341', 'score': 0.37}]
chr2	GH02I065318	65318969	65321702	0.96	[{'connected_gene': 'LOC101927533', 'score': 6.21}, {'connected_gene': 'GC02P065309', 'score': 0.39}, {'connected_gene': 'GC02M065341', 'score': 0.34}, {'connected_gene': 'SPRED2', 'score': 0.14}]
chr2	GH02I065386	65386968	65391289	1.25	[{'connected_gene': 'LOC101927533', 'score': 16.83}, {'connected_gene': 'LOC105374780', 'score': 12.1}, {'connected_gene': 'SPRED2', 'score': 11.41}, {'connected_gene': 'ENSG00000232693', 'score': 0.44}, {'connected_gene': 'GC02P065373', 'score': 0.37}, {'connected_gene': 'GC02P065427', 'score': 0.28}]
chr2	GH02I065381	65381917	65384999	1.42	[{'connected_gene': 'LOC101927533', 'score': 16.81}, {'connected_gene': 'LOC105374780', 'score': 12.59}, {'connected_gene': 'SPRED2', 'score': 11.4}, {'connected_gene': 'ENSG00000232693', 'score': 0.77}, {'connected_gene': 'GC02P065373', 'score': 0.44}, {'connected_gene': 'GC02P065427', 'score': 0.26}]
chr2	GH02I065405	65405491	65407819	1.17	[{'connected_gene': 'LOC101927533', 'score': 17.04}, {'connected_gene': 'LOC105374780', 'score': 12.18}, {'connected_gene': 'SPRED2', 'score': 12.06}, {'connected_gene': 'GC02P065427', 'score': 0.34}, {'connected_gene': 'ENSG00000232693', 'score': 0.31}]
chr2	GH02I065395	65395726	65397907	1.34	[{'connected_gene': 'LOC101927533', 'score': 17.21}, {'connected_gene': 'LOC105374780', 'score': 7.89}, {'connected_gene': 'ENSG00000232693', 'score': 0.37}, {'connected_gene': 'GC02P065427', 'score': 0.29}, {'connected_gene': 'SPRED2', 'score': 0.28}]
chr2	GH02I065277	65277957	65279776	0.82	[{'connected_gene': 'ACTR2', 'score': 23.22}, {'connected_gene': 'SPRED2', 'score': 10.73}, {'connected_gene': 'LOC105374780', 'score': 5.0}, {'connected_gene': 'GC02P065254', 'score': 0.34}, {'connected_gene': 'GC02P065309', 'score': 0.31}]
chr2	GH02I065276	65276618	65277703	0.43	[{'connected_gene': 'ACTR2', 'score': 22.54}, {'connected_gene': 'SPRED2', 'score': 10.72}, {'connected_gene': 'GC02P065254', 'score': 0.34}, {'connected_gene': 'GC02P065309', 'score': 0.29}]
chr2	GH02I065409	65409715	65410420	0.51	[{'connected_gene': 'GC02P065427', 'score': 0.37}, {'connected_gene': 'SPRED2', 'score': 0.34}, {'connected_gene': 'ENSG00000232693', 'score': 0.31}]
chr2	GH02I065406	65405251	65405296	0.93	[{'connected_gene': 'ENSG00000232693', 'score': 0.34}, {'connected_gene': 'GC02P065427', 'score': 0.34}, {'connected_gene': 'SPRED2', 'score': 0.31}]
chr2	GH02I065422	65422992	65423523	0.31	[{'connected_gene': 'GC02P065427', 'score': 0.77}, {'connected_gene': 'SPRED2', 'score': 0.44}, {'connected_gene': 'ENSG00000232693', 'score': 0.26}]
chr2	GH02I065374	65374169	65375301	0.58	[{'connected_gene': 'GC02P065373', 'score': 550.77}, {'connected_gene': 'LOC105374780', 'score': 13.86}, {'connected_gene': 'SPRED2', 'score': 11.39}, {'connected_gene': 'ENSG00000232693', 'score': 0.44}]
chr2	GH02I065309	65309157	65311588	0.77	[{'connected_gene': 'GC02P065309', 'score': 550.77}, {'connected_gene': 'LOC101927533', 'score': 6.28}, {'connected_gene': 'SPRED2', 'score': 5.88}, {'connected_gene': 'GC02M065341', 'score': 0.29}]
chr2	GH02I065369	65369912	65374141	1.39	[{'connected_gene': 'GC02P065373', 'score': 550.77}, {'connected_gene': 'LOC101927533', 'score': 16.95}, {'connected_gene': 'LOC105374780', 'score': 16.06}, {'connected_gene': 'SPRED2', 'score': 11.38}, {'connected_gene': 'ENSG00000232693', 'score': 0.44}, {'connected_gene': 'GC02M065341', 'score': 0.31}]
chr2	GH02I065377	65377296	65380603	1.3	[{'connected_gene': 'ENSG00000232693', 'score': 550.77}, {'connected_gene': 'LOC101927533', 'score': 16.95}, {'connected_gene': 'LOC105374780', 'score': 13.87}, {'connected_gene': 'SPRED2', 'score': 11.35}, {'connected_gene': 'GC02P065373', 'score': 0.44}]