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
ENST00000221543	[[50380681, 50381001], [50381399, 50381498], [50381754, 50381829], [50383535, 50383659], [50384524, 50384732], [50385297, 50385409], [50385498, 50385657], [50386020, 50386149], [50386229, 50386333], [50386907, 50387002], [50387509, 50387626], [50387715, 50387816], [50387915, 50388015], [50390732, 50390830], [50390974, 50391091], [50391487, 50391574], [50391680, 50392001]]	[[50380980, 50381001], [50381399, 50381498], [50381754, 50381829], [50383535, 50383659], [50384524, 50384732], [50385297, 50385409], [50385498, 50385657], [50386020, 50386149], [50386229, 50386333], [50386907, 50387002], [50387509, 50387626], [50387715, 50387816], [50387915, 50388015], [50390732, 50390830], [50390974, 50391091], [50391487, 50391574], [50391680, 50391881]]
ENST00000535102	[[50380922, 50381001], [50381754, 50381829], [50383535, 50383659], [50384524, 50384732], [50385297, 50385409], [50385498, 50385657], [50386020, 50386149], [50386229, 50386333], [50386907, 50387002], [50387509, 50387626], [50387715, 50387816], [50387915, 50388015], [50390732, 50390830], [50390974, 50391091], [50391487, 50391574], [50391680, 50392000]]	[[50380980, 50381001], [50381754, 50381829], [50383535, 50383659], [50384524, 50384732], [50385297, 50385409], [50385498, 50385657], [50386020, 50386149], [50386229, 50386333], [50386907, 50387002], [50387509, 50387626], [50387715, 50387816], [50387915, 50388015], [50390732, 50390830], [50390974, 50391091], [50391487, 50391574], [50391680, 50391881]]
ENST00000594996	[[50380958, 50381001], [50381399, 50381498], [50381754, 50381829], [50382579, 50382761], [50383535, 50383659], [50384524, 50384732], [50385297, 50385409], [50385498, 50385657], [50386020, 50386149], [50386229, 50386259]]	[[50380980, 50381001], [50381399, 50381498], [50381754, 50381829], [50382579, 50382612]]
ENST00000598789	[[50381332, 50381498], [50381754, 50381829], [50383535, 50383659], [50384530, 50384721]]	None
ENST00000599049	[[50381443, 50381498], [50381754, 50381829], [50383535, 50383659], [50384524, 50384732], [50385297, 50385409], [50385498, 50385657], [50386020, 50386149], [50386229, 50386333], [50386907, 50387002], [50387509, 50387626], [50387715, 50387816], [50387915, 50388015], [50388428, 50388791]]	[[50381443, 50381498], [50381754, 50381829], [50383535, 50383659], [50384524, 50384732], [50385297, 50385409], [50385498, 50385657], [50386020, 50386149], [50386229, 50386333], [50386907, 50387002], [50387509, 50387626], [50387715, 50387816], [50387915, 50388015], [50388428, 50388490]]
ENST00000596243	[[50381806, 50382761], [50383535, 50383659], [50384524, 50384732], [50385297, 50385409], [50385498, 50385657], [50386020, 50386149], [50386229, 50386333], [50386907, 50387002], [50387509, 50387626], [50387715, 50387816], [50387915, 50388015], [50390732, 50390830], [50390974, 50391091], [50391487, 50391574], [50391680, 50392005]]	None
ENST00000594984	[[50385522, 50385657], [50386020, 50386149], [50386229, 50386333], [50386907, 50387002], [50387509, 50387626], [50387715, 50387816], [50387915, 50388015], [50390732, 50390830], [50390974, 50391091], [50391413, 50391574], [50391680, 50391964]]	[[50385522, 50385657], [50386020, 50386149], [50386229, 50386333], [50386907, 50387002], [50387509, 50387626], [50387715, 50387816], [50387915, 50388015], [50390732, 50390830], [50390974, 50391091], [50391413, 50391452]]
ENST00000600354	[[50389807, 50390830], [50390974, 50391091], [50391487, 50391574], [50391680, 50392000]]	None
NM_001168222	[[50380681, 50381001], [50381754, 50381829], [50383535, 50383659], [50384524, 50384732], [50385297, 50385409], [50385498, 50385657], [50386020, 50386149], [50386229, 50386333], [50386907, 50387002], [50387509, 50387626], [50387715, 50387816], [50387915, 50388015], [50390732, 50390830], [50390974, 50391091], [50391487, 50391574], [50391680, 50392007]]	[[50380980, 50381001], [50381754, 50381829], [50383535, 50383659], [50384524, 50384732], [50385297, 50385409], [50385498, 50385657], [50386020, 50386149], [50386229, 50386333], [50386907, 50387002], [50387509, 50387626], [50387715, 50387816], [50387915, 50388015], [50390732, 50390830], [50390974, 50391091], [50391487, 50391574], [50391680, 50391881]]
NM_024682	[[50380681, 50381001], [50381399, 50381498], [50381754, 50381829], [50383535, 50383659], [50384524, 50384732], [50385297, 50385409], [50385498, 50385657], [50386020, 50386149], [50386229, 50386333], [50386907, 50387002], [50387509, 50387626], [50387715, 50387816], [50387915, 50388015], [50390732, 50390830], [50390974, 50391091], [50391487, 50391574], [50391680, 50392007]]	[[50380980, 50381001], [50381399, 50381498], [50381754, 50381829], [50383535, 50383659], [50384524, 50384732], [50385297, 50385409], [50385498, 50385657], [50386020, 50386149], [50386229, 50386333], [50386907, 50387002], [50387509, 50387626], [50387715, 50387816], [50387915, 50388015], [50390732, 50390830], [50390974, 50391091], [50391487, 50391574], [50391680, 50391881]]

Promoter

Chrom	Start	End	Description
chr19	50380732	50380822	CAGE_peak_3_at_TBC1D17_5end
chr19	50380917	50380938	CAGE_peak_4_at_TBC1D17_5end
chr19	50380951	50380976	CAGE_peak_2_at_TBC1D17_5end
chr19	50381308	50381439	CAGE_peak_1_at_TBC1D17_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I049910	49910051	49913925	1.48	[{'connected_gene': 'AKT1S1', 'score': 12.29}, {'connected_gene': 'TBC1D17', 'score': 12.29}, {'connected_gene': 'PTOV1', 'score': 11.88}, {'connected_gene': 'ENSG00000221125', 'score': 10.98}, {'connected_gene': 'NUP62', 'score': 10.41}, {'connected_gene': 'NR1H2', 'score': 8.21}, {'connected_gene': 'IL4I1', 'score': 7.66}, {'connected_gene': 'ATF5', 'score': 7.04}, {'connected_gene': 'FCGRT', 'score': 6.22}, {'connected_gene': 'RPS11', 'score': 3.34}, {'connected_gene': 'PIR32099', 'score': 0.77}, {'connected_gene': 'ENSG00000269179', 'score': 0.25}]
chr19	GH19I049439	49439849	49440204	0.25	[{'connected_gene': 'SLC17A7', 'score': 11.83}, {'connected_gene': 'PPFIA3', 'score': 7.92}, {'connected_gene': 'CPT1C', 'score': 2.74}, {'connected_gene': 'LIN7B', 'score': 1.76}, {'connected_gene': 'PRR12', 'score': 1.36}, {'connected_gene': 'TBC1D17', 'score': 1.29}, {'connected_gene': 'PTH2', 'score': 0.39}]
chr19	GH19I049894	49894601	49898655	2.09	[{'connected_gene': 'IL4I1', 'score': 553.79}, {'connected_gene': 'NUP62', 'score': 17.49}, {'connected_gene': 'POLD1', 'score': 12.3}, {'connected_gene': 'AKT1S1', 'score': 12.03}, {'connected_gene': 'MED25', 'score': 10.24}, {'connected_gene': 'NR1H2', 'score': 10.02}, {'connected_gene': 'PNKP', 'score': 7.48}, {'connected_gene': 'PTOV1-AS2', 'score': 5.95}, {'connected_gene': 'ATF5', 'score': 5.82}, {'connected_gene': 'TBC1D17', 'score': 5.27}, {'connected_gene': 'FCGRT', 'score': 5.04}, {'connected_gene': 'RPS11', 'score': 2.84}, {'connected_gene': 'ALDH16A1', 'score': 1.81}, {'connected_gene': 'MIR4750', 'score': 0.44}, {'connected_gene': 'PIR32099', 'score': 0.39}]
chr19	GH19I049874	49874115	49879352	2.32	[{'connected_gene': 'PNKP', 'score': 596.38}, {'connected_gene': 'AKT1S1', 'score': 575.13}, {'connected_gene': 'TBC1D17', 'score': 550.77}, {'connected_gene': 'PIR46791', 'score': 550.77}, {'connected_gene': 'NUP62', 'score': 63.35}, {'connected_gene': 'POLD1', 'score': 53.3}, {'connected_gene': 'PTOV1-AS2', 'score': 48.76}, {'connected_gene': 'SNORD35A', 'score': 39.91}, {'connected_gene': 'IRF3', 'score': 38.04}, {'connected_gene': 'ALDH16A1', 'score': 37.55}, {'connected_gene': 'SNORD35B', 'score': 37.18}, {'connected_gene': 'PRR12', 'score': 34.71}, {'connected_gene': 'SNRNP70', 'score': 33.69}, {'connected_gene': 'PIH1D1', 'score': 30.38}, {'connected_gene': 'RPL13A', 'score': 23.6}, {'connected_gene': 'RPS11', 'score': 22.73}, {'connected_gene': 'BAX', 'score': 19.23}, {'connected_gene': 'ENSG00000268047', 'score': 15.71}, {'connected_gene': 'TSKS', 'score': 14.63}, {'connected_gene': 'ZNF473', 'score': 14.28}, {'connected_gene': 'NAPSB', 'score': 12.31}, {'connected_gene': 'VRK3', 'score': 12.3}, {'connected_gene': 'NOSIP', 'score': 11.39}, {'connected_gene': 'RUVBL2', 'score': 11.11}, {'connected_gene': 'DKKL1', 'score': 10.84}, {'connected_gene': 'PRMT1', 'score': 10.51}, {'connected_gene': 'FLT3LG', 'score': 10.42}, {'connected_gene': 'ADM5', 'score': 10.42}, {'connected_gene': 'ENSG00000268157', 'score': 10.31}, {'connected_gene': 'SLC6A16', 'score': 10.09}, {'connected_gene': 'PTOV1', 'score': 10.05}]
chr19	GH19I049879	49879404	49879553	0.8	[{'connected_gene': 'PNKP', 'score': 550.77}, {'connected_gene': 'AKT1S1', 'score': 550.77}, {'connected_gene': 'TBC1D17', 'score': 0.77}, {'connected_gene': 'MIR4750', 'score': 0.44}]
chr19	GH19I049420	49420842	49421313	1	[{'connected_gene': 'GFY', 'score': 550.77}, {'connected_gene': 'RRAS', 'score': 3.44}, {'connected_gene': 'AP2A1', 'score': 2.33}, {'connected_gene': 'NOSIP', 'score': 1.88}, {'connected_gene': 'RCN3', 'score': 1.76}, {'connected_gene': 'PRR12', 'score': 1.27}, {'connected_gene': 'TBC1D17', 'score': 1.23}, {'connected_gene': 'LOC105372433', 'score': 0.77}]
chr19	GH19I049908	49908144	49908293	0.43	[{'connected_gene': 'PIR32099', 'score': 550.77}, {'connected_gene': 'AKT1S1', 'score': 12.31}, {'connected_gene': 'TBC1D17', 'score': 12.29}, {'connected_gene': 'PTOV1', 'score': 11.89}, {'connected_gene': 'ENSG00000221125', 'score': 10.86}, {'connected_gene': 'IL4I1', 'score': 0.34}, {'connected_gene': 'ATF5', 'score': 0.34}, {'connected_gene': 'NUP62', 'score': 0.34}]
chr19	GH19I049905	49905975	49907173	0.56	[{'connected_gene': 'PIR32099', 'score': 550.77}, {'connected_gene': 'AKT1S1', 'score': 17.29}, {'connected_gene': 'TBC1D17', 'score': 12.31}, {'connected_gene': 'PTOV1', 'score': 11.89}, {'connected_gene': 'ENSG00000221125', 'score': 10.86}, {'connected_gene': 'ATF5', 'score': 5.49}, {'connected_gene': 'IL4I1', 'score': 5.17}, {'connected_gene': 'MIR4750', 'score': 0.37}, {'connected_gene': 'NUP62', 'score': 0.34}]