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
ENST00000360566	[[10262454, 10263024], [10263109, 10263184], [10263513, 10263657], [10263862, 10263979], [10264843, 10264977], [10267001, 10267096], [10267213, 10267347], [10268974, 10269079], [10269167, 10269281], [10269360, 10271545]]	[[10262745, 10263024], [10263109, 10263184], [10263513, 10263657], [10263862, 10263979], [10264843, 10264977], [10267001, 10267096], [10267213, 10267347], [10268974, 10269079], [10269167, 10269281], [10269360, 10269513]]
ENST00000459969	[[10262838, 10263024], [10263109, 10263184], [10263513, 10263657], [10263862, 10264244]]	None
ENST00000304567	[[10262856, 10263024], [10263109, 10263184], [10263513, 10263657], [10263862, 10263979], [10264843, 10264977], [10267001, 10267096], [10267213, 10267347], [10268974, 10269079], [10269167, 10269281], [10269360, 10271545]]	[[10262925, 10263024], [10263109, 10263184], [10263513, 10263657], [10263862, 10263979], [10264843, 10264977], [10267001, 10267096], [10267213, 10267347], [10268974, 10269079], [10269167, 10269281], [10269360, 10269513]]
ENST00000498343	[[10262865, 10263024], [10263109, 10263184], [10263513, 10263839]]	None
ENST00000461327	[[10262865, 10263184], [10263513, 10263657], [10263862, 10263979]]	None
ENST00000491447	[[10262878, 10263024], [10263109, 10263184], [10263513, 10263657], [10263862, 10263979], [10264843, 10265005]]	None
ENST00000474701	[[10263297, 10263657], [10263862, 10263979], [10264843, 10264977], [10267001, 10267096], [10267213, 10267347], [10268974, 10269079], [10269167, 10269282]]	[[10263489, 10263657], [10263862, 10263979], [10264843, 10264977], [10267001, 10267096], [10267213, 10267347], [10268974, 10269079], [10269167, 10269282]]
ENST00000487591	[[10266638, 10267096], [10267213, 10267347]]	None
ENST00000462343	[[10266917, 10267096], [10267213, 10267488]]	None
ENST00000485717	[[10266956, 10267096], [10267213, 10267347], [10268974, 10269079], [10269167, 10269281], [10269360, 10269440]]	None
NM_001165931	[[10262694, 10263024], [10263109, 10263184], [10263513, 10263657], [10263862, 10263979], [10264843, 10264977], [10267001, 10267096], [10267213, 10267347], [10268974, 10269079], [10269167, 10269281], [10269360, 10271546]]	[[10262745, 10263024], [10263109, 10263184], [10263513, 10263657], [10263862, 10263979], [10264843, 10264977], [10267001, 10267096], [10267213, 10267347], [10268974, 10269079], [10269167, 10269281], [10269360, 10269513]]
NM_001034	[[10262862, 10263024], [10263109, 10263184], [10263513, 10263657], [10263862, 10263979], [10264843, 10264977], [10267001, 10267096], [10267213, 10267347], [10268974, 10269079], [10269167, 10269281], [10269360, 10271546]]	[[10262925, 10263024], [10263109, 10263184], [10263513, 10263657], [10263862, 10263979], [10264843, 10264977], [10267001, 10267096], [10267213, 10267347], [10268974, 10269079], [10269167, 10269281], [10269360, 10269513]]

Promoter

Chrom	Start	End	Description
chr2	10262442	10262479	CAGE_peak_2_at_RRM2_5end
chr2	10262492	10262506	CAGE_peak_4_at_RRM2_5end
chr2	10262857	10262873	CAGE_peak_1_at_RRM2_5end
chr2	10263300	10263329	CAGE_peak_5_at_RRM2_5end
chr2	10263330	10263355	CAGE_peak_3_at_RRM2_5end
chr2	10263360	10263373	CAGE_peak_6_at_RRM2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I010143	10143901	10145160	0.43	[{'connected_gene': 'RRM2', 'score': 5.22}, {'connected_gene': 'C2orf48', 'score': 0.77}, {'connected_gene': 'GC02M010155', 'score': 0.39}, {'connected_gene': 'ENSG00000206647', 'score': 0.39}, {'connected_gene': 'ENSG00000284681', 'score': 0.34}]
chr2	GH02I011103	11103212	11105175	0.67	[{'connected_gene': 'RRM2', 'score': 5.09}, {'connected_gene': 'GC02P011102', 'score': 0.77}, {'connected_gene': 'FLJ33534', 'score': 0.31}]
chr2	GH02I010119	10119383	10125485	2.63	[{'connected_gene': 'RRM2', 'score': 563.82}, {'connected_gene': 'ENSG00000284681', 'score': 550.77}, {'connected_gene': 'LOC101929882', 'score': 21.81}, {'connected_gene': 'ENSG00000233502', 'score': 11.78}, {'connected_gene': 'CYS1', 'score': 11.76}, {'connected_gene': 'TAF1B', 'score': 11.1}, {'connected_gene': 'SNORA80B', 'score': 10.78}, {'connected_gene': 'HPCAL1', 'score': 10.68}, {'connected_gene': 'LOC101929691', 'score': 10.09}, {'connected_gene': 'ODC1', 'score': 2.58}]
chr2	GH02I010125	10125713	10126983	0.79	[{'connected_gene': 'SNORA80B', 'score': 10.72}, {'connected_gene': 'LOC101929691', 'score': 10.09}, {'connected_gene': 'ENSG00000284681', 'score': 0.77}, {'connected_gene': 'RRM2', 'score': 0.44}, {'connected_gene': 'C2orf48', 'score': 0.37}]
chr2	GH02I010134	10134284	10134595	0.34	[{'connected_gene': 'ENSG00000206647', 'score': 12.08}, {'connected_gene': 'RRM2', 'score': 3.67}, {'connected_gene': 'C2orf48', 'score': 3.5}, {'connected_gene': 'TAF1B', 'score': 1.78}, {'connected_gene': 'ENSG00000284681', 'score': 0.39}]
chr2	GH02I010103	10103354	10103503	0.6	[{'connected_gene': 'ENSG00000212558', 'score': 0.39}, {'connected_gene': 'GC02M010090', 'score': 0.39}, {'connected_gene': 'RRM2', 'score': 0.37}]
chr2	GH02I010097	10097494	10097801	0.98	[{'connected_gene': 'ENSG00000212558', 'score': 0.44}, {'connected_gene': 'GC02M010090', 'score': 0.44}, {'connected_gene': 'RRM2', 'score': 0.34}]
chr2	GH02I010116	10116200	10116401	0.6	[{'connected_gene': 'ENSG00000233502', 'score': 11.8}, {'connected_gene': 'CYS1', 'score': 11.78}, {'connected_gene': 'C2orf48', 'score': 11.4}, {'connected_gene': 'HPCAL1', 'score': 10.67}, {'connected_gene': 'RRM2', 'score': 0.77}, {'connected_gene': 'ENSG00000212558', 'score': 0.31}, {'connected_gene': 'GC02M010090', 'score': 0.31}]
chr2	GH02I010118	10118217	10118423	0.77	[{'connected_gene': 'ENSG00000233502', 'score': 11.8}, {'connected_gene': 'CYS1', 'score': 11.78}, {'connected_gene': 'C2orf48', 'score': 11.42}, {'connected_gene': 'HPCAL1', 'score': 10.68}, {'connected_gene': 'RRM2', 'score': 0.77}, {'connected_gene': 'ENSG00000212558', 'score': 0.31}, {'connected_gene': 'GC02M010090', 'score': 0.31}]
chr2	GH02I010117	10117353	10117858	0.43	[{'connected_gene': 'ENSG00000233502', 'score': 11.8}, {'connected_gene': 'CYS1', 'score': 11.78}, {'connected_gene': 'C2orf48', 'score': 11.42}, {'connected_gene': 'HPCAL1', 'score': 10.67}, {'connected_gene': 'RRM2', 'score': 0.77}, {'connected_gene': 'ENSG00000212558', 'score': 0.31}, {'connected_gene': 'GC02M010090', 'score': 0.31}]
chr2	GH02I010089	10089457	10091800	1.03	[{'connected_gene': 'ENSG00000212558', 'score': 550.77}, {'connected_gene': 'GC02M010090', 'score': 550.77}, {'connected_gene': 'CYS1', 'score': 56.47}, {'connected_gene': 'LOC101929882', 'score': 5.68}, {'connected_gene': 'RRM2', 'score': 0.29}]