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
ENST00000471658	[[20248895, 20249124], [20251863, 20251963], [20304378, 20304484], [20315704, 20315789], [20325410, 20325607], [20333462, 20333558], [20346381, 20346683], [20356525, 20357057]]	[[20251939, 20251963], [20304378, 20304484], [20315704, 20315789], [20325410, 20325607], [20333462, 20333558], [20346381, 20346683], [20356525, 20356897]]
ENST00000492741	[[20249527, 20249793], [20251863, 20251963], [20304378, 20304484], [20315704, 20315789], [20325410, 20325607], [20333462, 20333558], [20346381, 20346683], [20356525, 20357082]]	[[20251939, 20251963], [20304378, 20304484], [20315704, 20315789], [20325410, 20325607], [20333462, 20333558], [20346381, 20346683], [20356525, 20356897]]
ENST00000338910	[[20276639, 20277500], [20279801, 20279971], [20283681, 20283739], [20304378, 20304484], [20315704, 20315789], [20325410, 20325607], [20333462, 20333558], [20346381, 20346683], [20356525, 20357057]]	[[20277314, 20277500], [20279801, 20279971], [20283681, 20283739], [20304378, 20304484], [20315704, 20315789], [20325410, 20325607], [20333462, 20333558], [20346381, 20346683], [20356525, 20356897]]
ENST00000497722	[[20248895, 20249124], [20251863, 20252078]]	None
ENST00000427943	[[20333486, 20333558], [20346381, 20346683], [20356525, 20356931], [20357056, 20357142]]	[[20333486, 20333558], [20346381, 20346683], [20356525, 20356897]]
NR_044998	[[20248891, 20249793], [20251863, 20251963], [20304378, 20304484], [20315704, 20315789], [20325410, 20325607], [20333462, 20333558], [20346381, 20346683], [20356525, 20357159]]	None
NR_003272	[[20248891, 20249124], [20251863, 20251963], [20304378, 20304484], [20315704, 20315789], [20325410, 20325607], [20333462, 20333558], [20346381, 20346683], [20356525, 20357159]]	None
NM_001042414	[[20277006, 20277500], [20279801, 20279971], [20283681, 20283739], [20304378, 20304484], [20315704, 20315789], [20325410, 20325607], [20333462, 20333558], [20346381, 20346683], [20356525, 20356931], [20357056, 20357159]]	[[20277314, 20277500], [20279801, 20279971], [20283681, 20283739], [20304378, 20304484], [20315704, 20315789], [20325410, 20325607], [20333462, 20333558], [20346381, 20346683], [20356525, 20356897]]

Promoter

Chrom	Start	End	Description
chr13	20357063	20357105	CAGE_peak_1_at_PSPC1_5end
chr13	20357110	20357121	CAGE_peak_2_at_PSPC1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I019791	19791941	19792150	0.2	[{'connected_gene': 'ZMYM5', 'score': 11.53}, {'connected_gene': 'PSPC1', 'score': 0.44}, {'connected_gene': 'ST6GALNAC4P1', 'score': 0.31}]
chr13	GH13I020170	20170753	20171651	0.82	[{'connected_gene': 'RPSAP54', 'score': 5.0}, {'connected_gene': 'PSPC1', 'score': 1.46}, {'connected_gene': 'GJA3', 'score': 0.44}, {'connected_gene': 'PPIAP28', 'score': 0.44}]
chr13	GH13I020174	20174391	20176167	1.46	[{'connected_gene': 'PSPC1', 'score': 2.77}, {'connected_gene': 'ZMYM5', 'score': 2.32}, {'connected_gene': 'PPIAP28', 'score': 0.77}, {'connected_gene': 'GJA3', 'score': 0.39}]
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	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	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	GH13I020159	20159902	20161855	2.12	[{'connected_gene': 'GJA3', 'score': 555.42}, {'connected_gene': 'ZMYM2', 'score': 16.16}, {'connected_gene': 'ZMYM5', 'score': 13.76}, {'connected_gene': 'XPO4', 'score': 12.34}, {'connected_gene': 'PSPC1', 'score': 2.1}, {'connected_gene': 'LOC105370101', 'score': 0.26}]
chr13	GH13I020126	20126508	20129041	1.43	[{'connected_gene': 'GJA3', 'score': 17.14}, {'connected_gene': 'PPIAP28', 'score': 12.7}, {'connected_gene': 'CRYL1', 'score': 4.67}, {'connected_gene': 'PARP4P2', 'score': 4.36}, {'connected_gene': 'ZMYM5', 'score': 1.22}, {'connected_gene': 'PSPC1', 'score': 1.13}, {'connected_gene': 'LOC105370101', 'score': 0.44}]
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	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	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}]