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
ENST00000414242	[[20207787, 20208101], [20216254, 20216410], [20220582, 20221431], [20222561, 20222661], [20224142, 20224400], [20233134, 20233260], [20233340, 20233429], [20235837, 20235978], [20237179, 20237266], [20240564, 20240719], [20242516, 20242671], [20244375, 20244503], [20244979, 20245126]]	[[20207888, 20208101], [20216254, 20216410], [20220582, 20221431], [20222561, 20222661], [20224142, 20224400], [20233134, 20233260], [20233340, 20233429], [20235837, 20235978], [20237179, 20237266], [20240564, 20240719], [20242516, 20242671], [20244375, 20244503], [20244979, 20245126]]
ENST00000361479	[[20207820, 20208101], [20216254, 20216410], [20220582, 20221431], [20222561, 20222661], [20224142, 20224400], [20233134, 20233260], [20233340, 20233429], [20235837, 20235978], [20237179, 20237266], [20240564, 20240719], [20242516, 20242671], [20244375, 20244503], [20245345, 20245429], [20245973, 20247599]]	[[20207888, 20208101], [20216254, 20216410], [20220582, 20221431], [20222561, 20222661], [20224142, 20224400], [20233134, 20233260], [20233340, 20233429], [20235837, 20235978], [20237179, 20237266], [20240564, 20240719], [20242516, 20242671], [20244375, 20244503], [20245345, 20245429], [20245973, 20246015]]
ENST00000467481	[[20233134, 20233260], [20233340, 20233429], [20235078, 20235230]]	None
ENST00000449056	[[20242530, 20242671], [20244375, 20244503], [20244979, 20245104], [20245345, 20245429], [20245973, 20246212]]	[[20242530, 20242671], [20244375, 20244503], [20244979, 20245104], [20245345, 20245403]]
ENST00000496525	[[20244479, 20244503], [20244979, 20245429], [20245973, 20246082]]	None
NM_017520	[[20207787, 20208101], [20216254, 20216410], [20220582, 20221431], [20222561, 20222661], [20224142, 20224400], [20233134, 20233260], [20233340, 20233429], [20235837, 20235978], [20237179, 20237266], [20240564, 20240719], [20242516, 20242671], [20244375, 20244503], [20245345, 20245429], [20245973, 20247599]]	[[20207888, 20208101], [20216254, 20216410], [20220582, 20221431], [20222561, 20222661], [20224142, 20224400], [20233134, 20233260], [20233340, 20233429], [20235837, 20235978], [20237179, 20237266], [20240564, 20240719], [20242516, 20242671], [20244375, 20244503], [20245345, 20245429], [20245973, 20246015]]

Promoter

Chrom	Start	End	Description
chr13	20207782	20207841	CAGE_peak_1_at_MPHOSPH8_5end
chr13	20220603	20220620	CAGE_peak_2_at_MPHOSPH8_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I019860	19860608	19865529	2.23	[{'connected_gene': 'ZMYM5', 'score': 586.26}, {'connected_gene': 'ENSG00000275964', 'score': 550.77}, {'connected_gene': 'ZMYM2', 'score': 35.15}, {'connected_gene': 'MPHOSPH8', 'score': 21.21}, {'connected_gene': 'PSPC1-AS2', 'score': 16.43}, {'connected_gene': 'ESRRAP1', 'score': 10.92}, {'connected_gene': 'RNU2-7P', 'score': 9.74}, {'connected_gene': 'TPTE2', 'score': 5.01}, {'connected_gene': 'CRYL1', 'score': 4.59}, {'connected_gene': 'ENSG00000223576', 'score': 0.34}]
chr13	GH13I020358	20358861	20360969	0.87	[{'connected_gene': 'ZMYM2', 'score': 14.49}, {'connected_gene': 'MIPEPP3', 'score': 13.09}, {'connected_gene': 'ZMYM5', 'score': 12.06}, {'connected_gene': 'PSPC1-AS2', 'score': 11.55}, {'connected_gene': 'MPHOSPH8', 'score': 10.47}, {'connected_gene': 'RNU2-7P', 'score': 9.78}, {'connected_gene': 'LOC105370102', 'score': 0.21}, {'connected_gene': 'MIR4499', 'score': 0.19}]
chr13	GH13I019780	19780765	19783634	1.95	[{'connected_gene': 'PSPC1', 'score': 550.77}, {'connected_gene': 'GC13P019780', 'score': 550.77}, {'connected_gene': 'MPHOSPH8', 'score': 14.47}, {'connected_gene': 'ZMYM5', 'score': 5.55}]
chr13	GH13I019845	19845105	19846911	1.24	[{'connected_gene': 'PSPC1', 'score': 13.35}, {'connected_gene': 'MPHOSPH8', 'score': 11.56}, {'connected_gene': 'ZMYM5', 'score': 2.61}, {'connected_gene': 'ENSG00000223576', 'score': 0.77}]
chr13	GH13I019632	19632716	19635329	2.01	[{'connected_gene': 'MPHOSPH8', 'score': 567.74}, {'connected_gene': 'ZMYM5', 'score': 16.96}, {'connected_gene': 'ZMYM2', 'score': 12.84}, {'connected_gene': 'PSPC1-AS2', 'score': 10.71}, {'connected_gene': 'PSPC1', 'score': 10.55}, {'connected_gene': 'LOC101928697', 'score': 4.02}, {'connected_gene': 'GC13M019667', 'score': 0.28}]
chr13	GH13I020130	20130281	20130659	0.58	[{'connected_gene': 'MPHOSPH8', 'score': 13.41}, {'connected_gene': 'ZMYM5', 'score': 12.94}, {'connected_gene': 'XPO4', 'score': 9.87}, {'connected_gene': 'EEF1AKMT1', 'score': 9.73}, {'connected_gene': 'LOC105370101', 'score': 0.39}, {'connected_gene': 'GJA3', 'score': 0.29}]
chr13	GH13I019882	19882382	19882899	0.31	[{'connected_gene': 'MPHOSPH8', 'score': 12.35}, {'connected_gene': 'ENSG00000275964', 'score': 0.37}, {'connected_gene': 'ZMYM2', 'score': 0.19}]
chr13	GH13I019685	19685132	19685714	0.57	[{'connected_gene': 'MPHOSPH8', 'score': 15.6}, {'connected_gene': 'PSPC1', 'score': 10.2}, {'connected_gene': 'PSPC1-AS2', 'score': 0.39}, {'connected_gene': 'RN7SL166P', 'score': 0.23}]
chr13	GH13I019873	19873602	19874789	0.2	[{'connected_gene': 'MPHOSPH8', 'score': 11.92}, {'connected_gene': 'PSPC1-AS2', 'score': 6.53}, {'connected_gene': 'ENSG00000275964', 'score': 0.39}, {'connected_gene': 'ZMYM2', 'score': 0.18}]
chr13	GH13I019713	19713201	19714109	0.68	[{'connected_gene': 'MPHOSPH8', 'score': 14.9}, {'connected_gene': 'PSPC1-AS2', 'score': 11.35}, {'connected_gene': 'PSPC1', 'score': 11.28}, {'connected_gene': 'RN7SL166P', 'score': 0.34}]
chr13	GH13I019793	19793301	19796363	0.89	[{'connected_gene': 'MPHOSPH8', 'score': 14.85}, {'connected_gene': 'ENSG00000223576', 'score': 12.05}, {'connected_gene': 'PSPC1-AS2', 'score': 6.55}, {'connected_gene': 'PSPC1', 'score': 0.39}, {'connected_gene': 'ST6GALNAC4P1', 'score': 0.34}]
chr13	GH13I019677	19677081	19678286	0.38	[{'connected_gene': 'MPHOSPH8', 'score': 11.7}, {'connected_gene': 'PSPC1-AS2', 'score': 7.05}, {'connected_gene': 'RN7SL166P', 'score': 0.22}, {'connected_gene': 'PSPC1', 'score': 0.14}]
chr13	GH13I019681	19681541	19681710	0.31	[{'connected_gene': 'MPHOSPH8', 'score': 14.98}, {'connected_gene': 'PSPC1-AS2', 'score': 0.44}, {'connected_gene': 'RN7SL166P', 'score': 0.22}, {'connected_gene': 'PSPC1', 'score': 0.15}]
chr13	GH13I019910	19910055	19911044	0.38	[{'connected_gene': 'ESRRAP1', 'score': 11.77}, {'connected_gene': 'PSPC1', 'score': 5.49}, {'connected_gene': 'MPHOSPH8', 'score': 5.37}, {'connected_gene': 'PSPC1-AS2', 'score': 4.87}, {'connected_gene': 'ZMYM2', 'score': 0.25}, {'connected_gene': 'ENSG00000275964', 'score': 0.25}]
chr13	GH13I019596	19596872	19598250	1.14	[{'connected_gene': 'ESRRAP1', 'score': 13.19}, {'connected_gene': 'MPHOSPH8', 'score': 11.4}, {'connected_gene': 'PSPC1-AS2', 'score': 10.61}, {'connected_gene': 'PSPC1', 'score': 10.51}, {'connected_gene': 'ZMYM5', 'score': 5.99}, {'connected_gene': 'PIR42308', 'score': 0.44}, {'connected_gene': 'LINC00350', 'score': 0.39}]
chr13	GH13I020231	20231202	20233100	1.04	[{'connected_gene': 'GJB6', 'score': 557.21}, {'connected_gene': 'EEF1AKMT1', 'score': 10.22}, {'connected_gene': 'SLC35E1P1', 'score': 10.22}, {'connected_gene': 'TPTE2', 'score': 9.87}, {'connected_gene': 'MPHOSPH8', 'score': 9.66}, {'connected_gene': 'ENSG00000279065', 'score': 0.28}]
chr13	GH13I020118	20118001	20121841	1.49	[{'connected_gene': 'LOC105370101', 'score': 550.77}, {'connected_gene': 'ZMYM5', 'score': 15.52}, {'connected_gene': 'ZMYM2', 'score': 15.23}, {'connected_gene': 'XPO4', 'score': 13.53}, {'connected_gene': 'MPHOSPH8', 'score': 11.1}, {'connected_gene': 'RNU2-7P', 'score': 9.68}, {'connected_gene': 'GJA3', 'score': 8.34}, {'connected_gene': 'PSPC1', 'score': 6.16}, {'connected_gene': 'CRYL1', 'score': 3.06}, {'connected_gene': 'LINC01072', 'score': 0.37}]
chr13	GH13I019818	19818321	19818470	0.66	[{'connected_gene': 'ST6GALNAC4P1', 'score': 550.77}, {'connected_gene': 'ENSG00000223576', 'score': 11.96}, {'connected_gene': 'PSPC1', 'score': 11.73}, {'connected_gene': 'MPHOSPH8', 'score': 7.19}]
chr13	GH13I019587	19587761	19587910	0.57	[{'connected_gene': 'LINC00350', 'score': 550.77}, {'connected_gene': 'MPHOSPH8', 'score': 11.55}, {'connected_gene': 'PIR42308', 'score': 0.37}]
chr13	GH13I019586	19586511	19587746	1.33	[{'connected_gene': 'LINC00350', 'score': 550.77}, {'connected_gene': 'MPHOSPH8', 'score': 11.55}, {'connected_gene': 'PIR42308', 'score': 0.37}]
chr13	GH13I019601	19601401	19603023	1.08	[{'connected_gene': 'PIR42308', 'score': 550.77}, {'connected_gene': 'MPHOSPH8', 'score': 42.61}, {'connected_gene': 'ZMYM5', 'score': 17.1}, {'connected_gene': 'ESRRAP1', 'score': 12.18}, {'connected_gene': 'PSPC1-AS2', 'score': 10.62}, {'connected_gene': 'PSPC1', 'score': 10.51}, {'connected_gene': 'LINC00350', 'score': 0.37}]
chr13	GH13I019603	19603401	19603800	0.31	[{'connected_gene': 'PIR42308', 'score': 550.77}, {'connected_gene': 'MPHOSPH8', 'score': 28.84}, {'connected_gene': 'PSPC1-AS2', 'score': 10.62}, {'connected_gene': 'PSPC1', 'score': 10.52}, {'connected_gene': 'PIR53239', 'score': 0.34}]