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
ENST00000295079	[[200820039, 200820059], [200820219, 200820971], [200823990, 200824062], [200824476, 200824603], [200826503, 200826651], [200828455, 200828831]]	[[200820521, 200820971], [200823990, 200824062], [200824476, 200824603], [200826503, 200826651], [200828455, 200828534]]
ENST00000392290	[[200820325, 200820971], [200823990, 200824062], [200824476, 200824603], [200826503, 200826651], [200828455, 200828848]]	[[200820521, 200820971], [200823990, 200824062], [200824476, 200824603], [200826503, 200826651], [200828455, 200828534]]
ENST00000435773	[[200820543, 200820971], [200823990, 200824062], [200824476, 200824603], [200870465, 200870500], [200873188, 200873263]]	[[200820543, 200820971], [200823990, 200824062], [200824476, 200824603], [200870465, 200870500], [200873188, 200873203]]
ENST00000469156	[[200823988, 200824062], [200824476, 200824603], [200828455, 200828559]]	None
NM_024520	[[200820039, 200820059], [200820219, 200820971], [200823990, 200824062], [200824476, 200824603], [200826503, 200826651], [200828455, 200828848]]	[[200820521, 200820971], [200823990, 200824062], [200824476, 200824603], [200826503, 200826651], [200828455, 200828534]]

Promoter

Chrom	Start	End	Description
chr2	200820269	200820317	CAGE_peak_2_at_C2orf47_5end
chr2	200820477	200820488	CAGE_peak_4_at_C2orf47_5end
chr2	200820494	200820550	CAGE_peak_1_at_C2orf47_5end
chr2	200820553	200820564	CAGE_peak_3_at_C2orf47_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I199977	199977618	199980787	1	[{'connected_gene': 'FTCDNL1', 'score': 4.04}, {'connected_gene': 'TYW5', 'score': 0.34}, {'connected_gene': 'MAIP1', 'score': 0.34}, {'connected_gene': 'LOC105373833', 'score': 0.14}, {'connected_gene': 'LOC105373834', 'score': 0.08}]
chr2	GH02I199935	199935575	199935704	0.28	[{'connected_gene': 'C2orf69', 'score': 2.26}, {'connected_gene': 'SATB2', 'score': 2.2}, {'connected_gene': 'TYW5', 'score': 1.6}, {'connected_gene': 'MAIP1', 'score': 0.37}]
chr2	GH02I199942	199942458	199942607	0.31	[{'connected_gene': 'TYW5', 'score': 0.39}, {'connected_gene': 'MAIP1', 'score': 0.39}, {'connected_gene': 'C2orf69', 'score': 0.29}]
chr2	GH02I199975	199975262	199975556	0.6	[{'connected_gene': 'TYW5', 'score': 0.37}, {'connected_gene': 'MAIP1', 'score': 0.34}, {'connected_gene': 'LOC105373833', 'score': 0.14}, {'connected_gene': 'LOC105373834', 'score': 0.08}]
chr2	GH02I199989	199989515	199990323	0.2	[{'connected_gene': 'TYW5', 'score': 0.29}, {'connected_gene': 'MAIP1', 'score': 0.29}, {'connected_gene': 'LOC105373833', 'score': 0.15}, {'connected_gene': 'LOC105373834', 'score': 0.09}]
chr2	GH02I199983	199983638	199983787	0.2	[{'connected_gene': 'TYW5', 'score': 0.31}, {'connected_gene': 'MAIP1', 'score': 0.31}, {'connected_gene': 'LOC105373833', 'score': 0.14}, {'connected_gene': 'LOC105373834', 'score': 0.08}]
chr2	GH02I199953	199953704	199957046	2.1	[{'connected_gene': 'TYW5', 'score': 580.61}, {'connected_gene': 'MAIP1', 'score': 550.77}, {'connected_gene': 'LOC101927687', 'score': 51.46}, {'connected_gene': 'CLK1', 'score': 28.98}, {'connected_gene': 'KCTD18', 'score': 15.01}, {'connected_gene': 'RNU6-762P', 'score': 11.75}, {'connected_gene': 'SPATS2L', 'score': 10.59}, {'connected_gene': 'RNU6-312P', 'score': 9.82}, {'connected_gene': 'FTCDNL1', 'score': 4.48}, {'connected_gene': 'C2orf69', 'score': 0.26}]
chr2	GH02I199984	199983862	199985170	0.2	[{'connected_gene': 'LOC101927687', 'score': 46.72}, {'connected_gene': 'FTCDNL1', 'score': 4.03}, {'connected_gene': 'TYW5', 'score': 0.31}, {'connected_gene': 'MAIP1', 'score': 0.31}, {'connected_gene': 'LOC105373833', 'score': 0.14}, {'connected_gene': 'LOC105373834', 'score': 0.08}]
chr2	GH02I199913	199913601	199914600	0.43	[{'connected_gene': 'LOC101927687', 'score': 37.14}, {'connected_gene': 'C2orf69', 'score': 0.77}, {'connected_gene': 'MAIP1', 'score': 0.26}]
chr2	GH02I199910	199910192	199912989	2.02	[{'connected_gene': 'LOC101927687', 'score': 612.29}, {'connected_gene': 'C2orf69', 'score': 550.77}, {'connected_gene': 'TYW5', 'score': 10.74}, {'connected_gene': 'FTCDNL1', 'score': 4.65}, {'connected_gene': 'MAIP1', 'score': 0.26}]
chr2	GH02I199922	199922958	199923107	0.54	[{'connected_gene': 'LOC101927687', 'score': 13.62}, {'connected_gene': 'TYW5', 'score': 11.88}, {'connected_gene': 'MAIP1', 'score': 11.88}, {'connected_gene': 'C2orf69', 'score': 0.39}]
chr2	GH02I199986	199986932	199989377	0.96	[{'connected_gene': 'LOC101927687', 'score': 45.17}, {'connected_gene': 'TYW5', 'score': 0.29}, {'connected_gene': 'MAIP1', 'score': 0.29}, {'connected_gene': 'LOC105373833', 'score': 0.15}, {'connected_gene': 'LOC105373834', 'score': 0.09}]
chr2	GH02I199985	199985601	199986001	1.01	[{'connected_gene': 'LOC101927687', 'score': 26.48}, {'connected_gene': 'TYW5', 'score': 0.29}, {'connected_gene': 'MAIP1', 'score': 0.29}, {'connected_gene': 'LOC105373833', 'score': 0.15}, {'connected_gene': 'LOC105373834', 'score': 0.09}]