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
ENST00000301068	[[49458467, 49458975], [49459132, 49459214], [49460013, 49460061], [49460258, 49460315], [49460401, 49460484], [49460750, 49460818], [49462817, 49462889], [49463516, 49463808]]	[[49458885, 49458975], [49459132, 49459214], [49460013, 49460061], [49460258, 49460315], [49460401, 49460484], [49460750, 49460818], [49462817, 49462889], [49463516, 49463568]]
ENST00000420065	[[49458468, 49458975], [49459132, 49459214], [49460013, 49460061], [49460258, 49460315], [49460401, 49460484], [49462817, 49462889], [49463516, 49463730]]	[[49460479, 49460484], [49462817, 49462889], [49463516, 49463568]]
ENST00000550797	[[49458484, 49458975], [49459132, 49459214], [49460013, 49460061], [49460258, 49460315], [49460401, 49460484], [49460750, 49460818], [49462817, 49462957], [49463516, 49463808]]	[[49460803, 49460818], [49462817, 49462957], [49463516, 49463568]]
ENST00000550675	[[49460274, 49460315], [49460401, 49460484], [49460738, 49460818], [49462817, 49462889], [49463516, 49463620]]	[[49460274, 49460315], [49460401, 49460484], [49460738, 49460818], [49462817, 49462889], [49463516, 49463568]]
NM_001303126	[[49458458, 49458975], [49459132, 49459214], [49460013, 49460061], [49460258, 49460315], [49460401, 49460484], [49460750, 49460818], [49462817, 49462957], [49463516, 49463808]]	[[49458885, 49458975], [49459132, 49459214], [49460013, 49460061], [49460258, 49460315], [49460401, 49460484], [49460750, 49460818], [49462817, 49462935]]
NM_144593	[[49458458, 49458975], [49459132, 49459214], [49460013, 49460061], [49460258, 49460315], [49460401, 49460484], [49460750, 49460818], [49462817, 49462889], [49463516, 49463808]]	[[49458885, 49458975], [49459132, 49459214], [49460013, 49460061], [49460258, 49460315], [49460401, 49460484], [49460750, 49460818], [49462817, 49462889], [49463516, 49463568]]
NR_130123	[[49458458, 49458975], [49459132, 49459214], [49460013, 49460061], [49460258, 49460315], [49460401, 49460484], [49462817, 49462889], [49463516, 49463808]]	None

Promoter

Chrom	Start	End	Description
chr12	49463652	49463675	CAGE_peak_3_at_RHEBL1_5end
chr12	49463680	49463724	CAGE_peak_1_at_RHEBL1_5end
chr12	49463753	49463770	CAGE_peak_2_at_RHEBL1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I049230	49230400	49235927	1.82	[{'connected_gene': 'TUBA1C', 'score': 20.15}, {'connected_gene': 'LOC105369760', 'score': 14.32}, {'connected_gene': 'TUBA1A', 'score': 14.09}, {'connected_gene': 'LMBR1L', 'score': 12.32}, {'connected_gene': 'RHEBL1', 'score': 11.07}, {'connected_gene': 'TUBA1B', 'score': 4.3}, {'connected_gene': 'ENSG00000258101', 'score': 0.29}, {'connected_gene': 'ENSG00000274017', 'score': 0.28}]
chr12	GH12I049068	49068980	49070711	2.06	[{'connected_gene': 'RHEBL1', 'score': 550.77}, {'connected_gene': 'DDX23', 'score': 29.9}, {'connected_gene': 'LMBR1L', 'score': 29.51}, {'connected_gene': 'KMT2D', 'score': 27.86}, {'connected_gene': 'SENP1', 'score': 24.04}, {'connected_gene': 'DDN', 'score': 20.48}, {'connected_gene': 'BCDIN3D', 'score': 17.99}, {'connected_gene': 'CCNT1', 'score': 17.46}, {'connected_gene': 'LOC390314', 'score': 13.34}, {'connected_gene': 'KANSL2', 'score': 12.62}, {'connected_gene': 'GC12M049057', 'score': 0.44}]
chr12	GH12I049301	49301909	49302005	0.65	[{'connected_gene': 'RHEBL1', 'score': 1.8}, {'connected_gene': 'PRPH', 'score': 0.44}, {'connected_gene': 'GC12P049321', 'score': 0.37}, {'connected_gene': 'LOC101927267', 'score': 0.34}]
chr12	GH12I049127	49127176	49127689	0.9	[{'connected_gene': 'LOC105369760', 'score': 550.77}, {'connected_gene': 'RHEBL1', 'score': 11.99}, {'connected_gene': 'TUBA1A', 'score': 11.16}, {'connected_gene': 'TUBA1C', 'score': 11.16}, {'connected_gene': 'KMT2D', 'score': 10.74}, {'connected_gene': 'LMBR1L', 'score': 0.37}]
chr12	GH12I049195	49195601	49196001	0.58	[{'connected_gene': 'ENSG00000274017', 'score': 550.77}, {'connected_gene': 'LOC390314', 'score': 12.97}, {'connected_gene': 'ENSG00000257298', 'score': 12.05}, {'connected_gene': 'PRPF40B', 'score': 11.58}, {'connected_gene': 'SMARCD1', 'score': 10.91}, {'connected_gene': 'RHEBL1', 'score': 10.51}, {'connected_gene': 'DDX23', 'score': 10.18}, {'connected_gene': 'ENSG00000257964', 'score': 10.15}, {'connected_gene': 'LOC100422296', 'score': 9.96}, {'connected_gene': 'KANSL2', 'score': 9.79}, {'connected_gene': 'TUBA1C', 'score': 0.44}, {'connected_gene': 'TUBA1A', 'score': 0.44}]
chr12	GH12I049063	49063801	49064400	1.03	[{'connected_gene': 'GC12M049057', 'score': 550.77}, {'connected_gene': 'DDN', 'score': 30.0}, {'connected_gene': 'RHEBL1', 'score': 0.44}]
chr12	GH12I049197	49197601	49197800	0.4	[{'connected_gene': 'ENSG00000274017', 'score': 550.77}, {'connected_gene': 'RHEBL1', 'score': 10.51}, {'connected_gene': 'TUBA1C', 'score': 0.44}, {'connected_gene': 'ENSG00000258101', 'score': 0.2}]
chr12	GH12I049199	49197373	49197465	0.53	[{'connected_gene': 'ENSG00000274017', 'score': 550.77}, {'connected_gene': 'RHEBL1', 'score': 10.51}, {'connected_gene': 'PRPF40B', 'score': 2.4}, {'connected_gene': 'TUBA1C', 'score': 0.44}, {'connected_gene': 'ENSG00000258101', 'score': 0.2}]