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
ENST00000368984	[[124221040, 124221640], [124248417, 124248517], [124248937, 124249142], [124266206, 124266401], [124266885, 124266918], [124268171, 124268286], [124269611, 124269669], [124271485, 124271581], [124273706, 124274424]]	[[124221168, 124221640], [124248417, 124248517], [124248937, 124249142], [124266206, 124266401], [124266885, 124266918], [124268171, 124268286], [124269611, 124269669], [124271485, 124271581], [124273706, 124273875]]
ENST00000420892	[[124266206, 124266401], [124266885, 124266918], [124268171, 124268286], [124269611, 124269669], [124271485, 124271581], [124273706, 124274423]]	[[124266206, 124266401], [124266885, 124266918], [124268171, 124268286], [124269611, 124269669], [124271485, 124271581], [124273706, 124273875]]
NM_002775	[[124221040, 124221640], [124248417, 124248517], [124248937, 124249142], [124266206, 124266401], [124266885, 124266918], [124268171, 124268286], [124269611, 124269669], [124271485, 124271581], [124273706, 124274424]]	[[124221168, 124221640], [124248417, 124248517], [124248937, 124249142], [124266206, 124266401], [124266885, 124266918], [124268171, 124268286], [124269611, 124269669], [124271485, 124271581], [124273706, 124273875]]

Promoter

Chrom	Start	End	Description
chr10	124220985	124220996	CAGE_peak_5_at_HTRA1_5end
chr10	124221036	124221047	CAGE_peak_4_at_HTRA1_5end
chr10	124221061	124221080	CAGE_peak_2_at_HTRA1_5end
chr10	124221082	124221140	CAGE_peak_1_at_HTRA1_5end
chr10	124221146	124221166	CAGE_peak_3_at_HTRA1_5end
chr10	124248461	124248481	CAGE_peak_7_at_HTRA1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I122338	122338594	122339617	0.4	[{'connected_gene': 'HTRA1', 'score': 9.98}, {'connected_gene': 'PLEKHA1', 'score': 5.71}, {'connected_gene': 'GC10P122346', 'score': 0.44}, {'connected_gene': 'BTBD16', 'score': 0.2}]
chr10	GH10I122341	122341306	122341455	0.51	[{'connected_gene': 'HTRA1', 'score': 9.98}, {'connected_gene': 'PLEKHA1', 'score': 6.46}, {'connected_gene': 'GC10P122346', 'score': 0.77}, {'connected_gene': 'BTBD16', 'score': 0.19}]
chr10	GH10I122437	122437003	122437196	0.22	[{'connected_gene': 'HTRA1', 'score': 11.33}, {'connected_gene': 'PLEKHA1', 'score': 2.35}, {'connected_gene': 'TACC2', 'score': 2.01}, {'connected_gene': 'PIR55685', 'score': 0.44}, {'connected_gene': 'ARMS2', 'score': 0.37}]
chr10	GH10I122435	122435365	122435494	0.49	[{'connected_gene': 'HTRA1', 'score': 10.71}, {'connected_gene': 'PIR55685', 'score': 0.44}, {'connected_gene': 'ARMS2', 'score': 0.37}, {'connected_gene': 'PLEKHA1', 'score': 0.21}]
chr10	GH10I122342	122342085	122343567	1.03	[{'connected_gene': 'HTRA1', 'score': 9.98}, {'connected_gene': 'ARMS2', 'score': 8.02}, {'connected_gene': 'GC10P122346', 'score': 0.77}, {'connected_gene': 'BTBD16', 'score': 0.19}]
chr10	GH10I122506	122506047	122506604	0.2	[{'connected_gene': 'HTRA1', 'score': 11.29}, {'connected_gene': 'ARMS2', 'score': 10.09}, {'connected_gene': 'LOC105378526', 'score': 0.37}, {'connected_gene': 'DMBT1', 'score': 0.23}]
chr10	GH10I122492	122492582	122496267	1.25	[{'connected_gene': 'HTRA1', 'score': 11.22}, {'connected_gene': 'ARMS2', 'score': 10.49}, {'connected_gene': 'LOC105378526', 'score': 0.77}, {'connected_gene': 'DMBT1', 'score': 0.2}]
chr10	GH10I122503	122503925	122505354	1.28	[{'connected_gene': 'HTRA1', 'score': 11.29}, {'connected_gene': 'ARMS2', 'score': 10.1}, {'connected_gene': 'LOC105378526', 'score': 0.37}, {'connected_gene': 'DMBT1', 'score': 0.22}]
chr10	GH10I122487	122487082	122487708	1.25	[{'connected_gene': 'HTRA1', 'score': 11.59}, {'connected_gene': 'ARMS2', 'score': 10.88}, {'connected_gene': 'LOC105378526', 'score': 0.77}]
chr10	GH10I122547	122547418	122550169	0.2	[{'connected_gene': 'HTRA1', 'score': 10.11}, {'connected_gene': 'DMBT1', 'score': 6.98}, {'connected_gene': 'LOC105378526', 'score': 0.22}]
chr10	GH10I122363	122363046	122364587	0.43	[{'connected_gene': 'HTRA1', 'score': 9.99}, {'connected_gene': 'BTBD16', 'score': 8.08}, {'connected_gene': 'PLEKHA1', 'score': 6.7}, {'connected_gene': 'ARMS2', 'score': 6.56}, {'connected_gene': 'RNU6-728P', 'score': 0.37}]
chr10	GH10I122348	122347452	122351432	0.57	[{'connected_gene': 'HTRA1', 'score': 16.74}, {'connected_gene': 'BTBD16', 'score': 8.47}, {'connected_gene': 'ARMS2', 'score': 8.36}, {'connected_gene': 'PLEKHA1', 'score': 6.6}, {'connected_gene': 'RNU6-728P', 'score': 0.77}]
chr10	GH10I122167	122167360	122169197	0.69	[{'connected_gene': 'HTRA1', 'score': 9.68}, {'connected_gene': 'GC10M122162', 'score': 0.77}, {'connected_gene': 'BTBD16', 'score': 0.15}, {'connected_gene': 'TACC2', 'score': 0.1}]
chr10	GH10I122323	122323517	122325205	0.52	[{'connected_gene': 'HTRA1', 'score': 10.25}, {'connected_gene': 'GC10P122346', 'score': 0.34}, {'connected_gene': 'BTBD16', 'score': 0.23}]
chr10	GH10I122324	122323346	122323495	0.38	[{'connected_gene': 'HTRA1', 'score': 10.25}, {'connected_gene': 'GC10P122346', 'score': 0.34}, {'connected_gene': 'BTBD16', 'score': 0.23}]
chr10	GH10I122515	122515045	122515154	0.4	[{'connected_gene': 'HTRA1', 'score': 11.1}, {'connected_gene': 'LOC105378526', 'score': 0.31}, {'connected_gene': 'DMBT1', 'score': 0.25}]
chr10	GH10I122514	122514029	122514730	0.43	[{'connected_gene': 'HTRA1', 'score': 11.1}, {'connected_gene': 'LOC105378526', 'score': 0.34}, {'connected_gene': 'DMBT1', 'score': 0.25}]
chr10	GH10I122498	122498227	122499918	0.78	[{'connected_gene': 'HTRA1', 'score': 10.92}, {'connected_gene': 'LOC105378526', 'score': 0.44}, {'connected_gene': 'DMBT1', 'score': 0.21}]
chr10	GH10I122485	122485343	122486144	0.58	[{'connected_gene': 'HTRA1', 'score': 11.16}, {'connected_gene': 'LOC105378526', 'score': 0.77}]
chr10	GH10I122465	122465435	122465788	0.2	[{'connected_gene': 'HTRA1', 'score': 0.77}, {'connected_gene': 'LOC105378526', 'score': 0.34}]
chr10	GH10I122472	122472940	122473479	0.2	[{'connected_gene': 'HTRA1', 'score': 0.39}, {'connected_gene': 'LOC105378526', 'score': 0.37}]
chr10	GH10I122484	122484956	122485161	0.2	[{'connected_gene': 'HTRA1', 'score': 11.16}, {'connected_gene': 'LOC105378526', 'score': 0.77}]
chr10	GH10I122509	122509386	122511251	0.58	[{'connected_gene': 'HTRA1', 'score': 11.26}, {'connected_gene': 'ATE1-AS1', 'score': 4.57}, {'connected_gene': 'LOC105378526', 'score': 0.34}, {'connected_gene': 'DMBT1', 'score': 0.23}]
chr10	GH10I122478	122478589	122480845	0.2	[{'connected_gene': 'ARMS2', 'score': 10.72}, {'connected_gene': 'PLEKHA1', 'score': 4.86}, {'connected_gene': 'LOC105378526', 'score': 0.44}, {'connected_gene': 'HTRA1', 'score': 0.37}]
chr10	GH10I122471	122471889	122472098	0.54	[{'connected_gene': 'ARMS2', 'score': 16.77}, {'connected_gene': 'HTRA1', 'score': 0.39}, {'connected_gene': 'LOC105378526', 'score': 0.37}]
chr10	GH10I122457	122457303	122459631	0.46	[{'connected_gene': 'ARMS2', 'score': 11.98}, {'connected_gene': 'HTRA1', 'score': 6.31}, {'connected_gene': 'LOC105378525', 'score': 0.77}]
chr10	GH10I122473	122473664	122476776	0.89	[{'connected_gene': 'ARMS2', 'score': 16.95}, {'connected_gene': 'BTBD16', 'score': 6.07}, {'connected_gene': 'HTRA1', 'score': 0.39}, {'connected_gene': 'LOC105378526', 'score': 0.39}]
chr10	GH10I122466	122466473	122470639	1.45	[{'connected_gene': 'ARMS2', 'score': 20.18}, {'connected_gene': 'TACC2', 'score': 2.16}, {'connected_gene': 'HTRA1', 'score': 0.44}, {'connected_gene': 'LOC105378526', 'score': 0.34}]
chr10	GH10I122531	122531298	122534342	0.66	[{'connected_gene': 'DMBT1', 'score': 12.97}, {'connected_gene': 'ARMS2', 'score': 9.92}, {'connected_gene': 'HTRA1', 'score': 9.72}, {'connected_gene': 'LOC105378526', 'score': 0.26}]
chr10	GH10I122529	122529601	122531066	0.43	[{'connected_gene': 'DMBT1', 'score': 18.79}, {'connected_gene': 'ARMS2', 'score': 9.92}, {'connected_gene': 'HTRA1', 'score': 9.74}, {'connected_gene': 'LOC105378526', 'score': 0.26}]
chr10	GH10I122284	122284411	122288948	0.84	[{'connected_gene': 'BTBD16', 'score': 37.53}, {'connected_gene': 'C10orf88', 'score': 15.82}, {'connected_gene': 'HTRA1', 'score': 10.64}, {'connected_gene': 'GC10P122346', 'score': 0.22}]
chr10	GH10I122419	122419369	122423372	0.69	[{'connected_gene': 'BTBD16', 'score': 16.23}, {'connected_gene': 'PLEKHA1', 'score': 16.17}, {'connected_gene': 'HTRA1', 'score': 11.1}, {'connected_gene': 'ARMS2', 'score': 10.72}, {'connected_gene': 'LOC105378524', 'score': 0.77}, {'connected_gene': 'PIR55685', 'score': 0.44}]
chr10	GH10I122362	122362785	122362934	0.38	[{'connected_gene': 'BTBD16', 'score': 10.04}, {'connected_gene': 'HTRA1', 'score': 9.99}, {'connected_gene': 'PLEKHA1', 'score': 0.39}, {'connected_gene': 'RNU6-728P', 'score': 0.37}]
chr10	GH10I122232	122232142	122235132	0.31	[{'connected_gene': 'BTBD16', 'score': 15.96}, {'connected_gene': 'HTRA1', 'score': 9.88}, {'connected_gene': 'GC10M122162', 'score': 0.2}, {'connected_gene': 'TACC2', 'score': 0.07}]
chr10	GH10I122236	122236807	122238449	0.43	[{'connected_gene': 'BTBD16', 'score': 15.96}, {'connected_gene': 'HTRA1', 'score': 9.88}, {'connected_gene': 'GC10M122162', 'score': 0.19}, {'connected_gene': 'TACC2', 'score': 0.07}]
chr10	GH10I122490	122490184	122492351	0.99	[{'connected_gene': 'LOC105378526', 'score': 550.77}, {'connected_gene': 'HTRA1', 'score': 11.24}, {'connected_gene': 'ARMS2', 'score': 10.49}, {'connected_gene': 'DMBT1', 'score': 6.23}]
chr10	GH10I122477	122477172	122478481	0.2	[{'connected_gene': 'LOC105378526', 'score': 0.39}, {'connected_gene': 'HTRA1', 'score': 0.37}]
chr10	GH10I122460	122460819	122464676	2.03	[{'connected_gene': 'LOC105378525', 'score': 550.77}, {'connected_gene': 'HTRA1', 'score': 550.77}, {'connected_gene': 'ARMS2', 'score': 21.65}, {'connected_gene': 'LOC105378526', 'score': 0.31}]
chr10	GH10I122162	122162413	122166236	2.05	[{'connected_gene': 'GC10M122162', 'score': 550.77}, {'connected_gene': 'TACC2', 'score': 550.1}, {'connected_gene': 'HTRA1', 'score': 9.71}, {'connected_gene': 'GC10P122094', 'score': 0.2}]