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
ENST00000317483	[[57053606, 57055398], [57058639, 57058732], [57059567, 57059650], [57061247, 57061404], [57072425, 57072511], [57075023, 57075243], [57086523, 57087078]]	[[57055258, 57055398], [57058639, 57058732], [57059567, 57059650], [57061247, 57061404], [57072425, 57072511], [57075023, 57075178]]
ENST00000468148	[[57054596, 57055398], [57058639, 57058732], [57059567, 57059650], [57061247, 57061404], [57072425, 57072511], [57075023, 57075243], [57086116, 57086205]]	[[57055258, 57055398], [57058639, 57058732], [57059567, 57059650], [57061247, 57061404], [57072425, 57072511], [57075023, 57075178]]
NM_183227	[[57051789, 57055398], [57058639, 57058732], [57059567, 57059650], [57061247, 57061404], [57072425, 57072511], [57075023, 57075243], [57086116, 57086259]]	[[57055258, 57055398], [57058639, 57058732], [57059567, 57059650], [57061247, 57061404], [57072425, 57072511], [57075023, 57075178]]
NM_001278668	[[57051789, 57055398], [57058639, 57058732], [57059567, 57059650], [57061247, 57061404], [57072425, 57072511], [57075023, 57075243], [57086140, 57086259]]	[[57055258, 57055398], [57058639, 57058732], [57059567, 57059650], [57061247, 57061404], [57072425, 57072511], [57075023, 57075178]]
NM_016277	[[57051789, 57055398], [57058639, 57058732], [57059567, 57059650], [57061247, 57061404], [57072425, 57072511], [57075023, 57075243], [57086523, 57087112]]	[[57055258, 57055398], [57058639, 57058732], [57059567, 57059650], [57061247, 57061404], [57072425, 57072511], [57075023, 57075178]]
NM_001278667	[[57051789, 57055398], [57058639, 57058732], [57059567, 57059650], [57061247, 57061404], [57072425, 57072511], [57075023, 57075243], [57086820, 57087112]]	[[57055258, 57055398], [57058639, 57058732], [57059567, 57059650], [57061247, 57061404], [57072425, 57072511], [57075023, 57075178]]
NM_001278666	[[57051789, 57055398], [57058639, 57058732], [57059567, 57059650], [57061247, 57061404], [57072425, 57072511], [57075023, 57075243], [57086992, 57087112]]	[[57055258, 57055398], [57058639, 57058732], [57059567, 57059650], [57061247, 57061404], [57072425, 57072511], [57075023, 57075178]]
NR_103822	[[57051789, 57055398], [57058639, 57058732], [57075023, 57075243], [57086992, 57087112]]	None

Promoter

Chrom	Start	End	Description
chr6	57086200	57086228	CAGE_peak_3_at_RAB23_5end
chr6	57086243	57086265	CAGE_peak_2_at_RAB23_5end
chr6	57086937	57086942	CAGE_peak_11_at_RAB23_5end
chr6	57086966	57086975	CAGE_peak_6_at_RAB23_5end
chr6	57087015	57087025	CAGE_peak_5_at_RAB23_5end
chr6	57087042	57087128	CAGE_peak_1_at_RAB23_5end
chr6	57087129	57087138	CAGE_peak_4_at_RAB23_5end
chr6	57087225	57087229	CAGE_peak_12_at_RAB23_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I057257	57257338	57259726	1.02	[{'connected_gene': 'BAG2', 'score': 16.18}, {'connected_gene': 'LOC101927211', 'score': 10.4}, {'connected_gene': 'RAB23', 'score': 6.1}, {'connected_gene': 'KIAA1586', 'score': 5.01}, {'connected_gene': 'LOC100506188', 'score': 0.77}, {'connected_gene': 'GC06M057222', 'score': 0.44}, {'connected_gene': 'GC06P057245', 'score': 0.39}]
chr6	GH06I057176	57176496	57178681	0.58	[{'connected_gene': 'KIAA1586', 'score': 26.84}, {'connected_gene': 'PRIM2', 'score': 18.04}, {'connected_gene': 'ZNF451', 'score': 11.02}, {'connected_gene': 'LOC101927211', 'score': 0.77}, {'connected_gene': 'BAG2', 'score': 0.44}, {'connected_gene': 'RAB23', 'score': 0.26}]
chr6	GH06I057181	57181083	57183127	0.43	[{'connected_gene': 'KIAA1586', 'score': 15.27}, {'connected_gene': 'RAB23', 'score': 11.89}, {'connected_gene': 'ZNF451', 'score': 11.01}, {'connected_gene': 'LOC101927211', 'score': 0.44}, {'connected_gene': 'BAG2', 'score': 0.44}]
chr6	GH06I056523	56523756	56530192	1.35	[{'connected_gene': 'KIAA1586', 'score': 22.29}, {'connected_gene': 'ZNF451', 'score': 21.47}, {'connected_gene': 'BEND6', 'score': 18.79}, {'connected_gene': 'PRIM2', 'score': 10.01}, {'connected_gene': 'RAB23', 'score': 9.8}, {'connected_gene': 'GC06P056536', 'score': 0.44}, {'connected_gene': 'RCC2P7', 'score': 0.16}, {'connected_gene': 'DST', 'score': 0.04}]
chr6	GH06I057312	57312174	57318533	2.54	[{'connected_gene': 'PRIM2', 'score': 586.93}, {'connected_gene': 'BEND6', 'score': 14.14}, {'connected_gene': 'LOC101927211', 'score': 10.29}, {'connected_gene': 'BAG2', 'score': 10.29}, {'connected_gene': 'DST', 'score': 10.2}, {'connected_gene': 'RAB23', 'score': 1.38}, {'connected_gene': 'GC06P057297', 'score': 0.37}, {'connected_gene': 'GC06M057367', 'score': 0.22}]
chr6	GH06I057220	57220325	57223316	1.99	[{'connected_gene': 'RAB23', 'score': 550.77}, {'connected_gene': 'PRIM2', 'score': 19.38}, {'connected_gene': 'BEND6', 'score': 13.2}, {'connected_gene': 'GC06M057222', 'score': 0.26}, {'connected_gene': 'LOC101927211', 'score': 0.25}]
chr6	GH06I057422	57422988	57424323	0.6	[{'connected_gene': 'RAB23', 'score': 5.97}, {'connected_gene': 'LINC00680', 'score': 4.05}, {'connected_gene': 'MIR548U', 'score': 0.29}, {'connected_gene': 'ENSG00000266579', 'score': 0.19}, {'connected_gene': 'PRIM2', 'score': 0.14}]
chr6	GH06I057213	57213985	57214044	0.5	[{'connected_gene': 'RAB23', 'score': 550.44}, {'connected_gene': 'LOC101927211', 'score': 0.28}]
chr6	GH06I056765	56765782	56768543	1.27	[{'connected_gene': 'ZNF451', 'score': 75.09}, {'connected_gene': 'KIAA1586', 'score': 39.84}, {'connected_gene': 'PRIM2', 'score': 36.2}, {'connected_gene': 'LOC101927211', 'score': 21.76}, {'connected_gene': 'BEND6', 'score': 19.11}, {'connected_gene': 'LOC101930010', 'score': 14.99}, {'connected_gene': 'RAB23', 'score': 10.67}, {'connected_gene': 'DST', 'score': 9.99}, {'connected_gene': 'GC06M056744', 'score': 0.44}, {'connected_gene': 'GC06P056805', 'score': 0.28}]
chr6	GH06I057216	57216801	57217000	0.52	[{'connected_gene': 'BEND6', 'score': 14.74}, {'connected_gene': 'RAB23', 'score': 0.44}, {'connected_gene': 'LOC101927211', 'score': 0.26}]
chr6	GH06I057225	57225000	57225201	0.62	[{'connected_gene': 'LOC101927211', 'score': 10.5}, {'connected_gene': 'BAG2', 'score': 10.5}, {'connected_gene': 'KIAA1586', 'score': 9.63}, {'connected_gene': 'RAB23', 'score': 0.77}, {'connected_gene': 'GC06M057241', 'score': 0.37}, {'connected_gene': 'GC06M057222', 'score': 0.28}]