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
ENST00000494222	[[124134211, 124134322], [124152696, 124152857], [124157433, 124157490], [124172435, 124172561], [124175374, 124175522]]	None
ENST00000368990	[[124134211, 124134322], [124152696, 124152857], [124157433, 124157490], [124159858, 124159904], [124166091, 124166189], [124172435, 124172561], [124175374, 124175518], [124177415, 124177484], [124183714, 124183779], [124184411, 124184475], [124186457, 124186547], [124189139, 124191867]]	[[124152716, 124152857], [124157433, 124157490], [124159858, 124159904], [124166091, 124166189], [124172435, 124172561], [124175374, 124175518], [124177415, 124177484], [124183714, 124183779], [124184411, 124184475], [124186457, 124186547], [124189139, 124189454]]
ENST00000368988	[[124134219, 124134322], [124152696, 124152857], [124157433, 124157490], [124159858, 124159904], [124166091, 124166189], [124172435, 124172561], [124175374, 124175518], [124177415, 124177484], [124183714, 124183779], [124184411, 124184475], [124186457, 124186547], [124187791, 124187832], [124189139, 124191866]]	[[124152716, 124152857], [124157433, 124157490], [124159858, 124159904], [124166091, 124166189], [124172435, 124172561], [124175374, 124175518], [124177415, 124177484], [124183714, 124183779], [124184411, 124184475], [124186457, 124186547], [124187791, 124187832], [124189139, 124189350]]
ENST00000368989	[[124134275, 124134363], [124152696, 124152857], [124157433, 124157490], [124159858, 124159904], [124166091, 124166189], [124172435, 124172561], [124175374, 124175518], [124177415, 124177484], [124183714, 124183779], [124184411, 124184475], [124186457, 124186547], [124187791, 124187832], [124189139, 124191861]]	[[124152716, 124152857], [124157433, 124157490], [124159858, 124159904], [124166091, 124166189], [124172435, 124172561], [124175374, 124175518], [124177415, 124177484], [124183714, 124183779], [124184411, 124184475], [124186457, 124186547], [124187791, 124187832], [124189139, 124189350]]
ENST00000463663	[[124134349, 124134477], [124151818, 124151888], [124152696, 124152857], [124157433, 124157490], [124159858, 124159904], [124166091, 124166189], [124172435, 124172492]]	[[124152716, 124152857], [124157433, 124157490], [124159858, 124159904], [124166091, 124166189], [124172435, 124172492]]
ENST00000538022	[[124145584, 124145703], [124151818, 124151888], [124152696, 124152857], [124157433, 124157490], [124159858, 124159904], [124166091, 124166189], [124172435, 124172561], [124175374, 124175518], [124177415, 124177484], [124183714, 124183779], [124184411, 124184475], [124186457, 124186547], [124187791, 124187936], [124189139, 124189638]]	[[124152716, 124152857], [124157433, 124157490], [124159858, 124159904], [124166091, 124166189], [124172435, 124172561], [124175374, 124175518], [124177415, 124177484], [124183714, 124183779], [124184411, 124184475], [124186457, 124186547], [124187791, 124187896]]
ENST00000392799	[[124146124, 124147499], [124151818, 124151888], [124152696, 124152857], [124157433, 124157490], [124159858, 124159904], [124166091, 124166189], [124172435, 124172561], [124175374, 124175518], [124177415, 124177484], [124183714, 124183779], [124184411, 124184475], [124186457, 124186547], [124189139, 124189995]]	[[124152716, 124152857], [124157433, 124157490], [124159858, 124159904], [124166091, 124166189], [124172435, 124172561], [124175374, 124175518], [124177415, 124177484], [124183714, 124183779], [124184411, 124184475], [124186457, 124186547], [124189139, 124189454]]
ENST00000433307	[[124152694, 124152857], [124157433, 124157490], [124159858, 124159904], [124166091, 124166189], [124172435, 124172561], [124175374, 124175518], [124177415, 124177484], [124183714, 124183779], [124184411, 124184475], [124186457, 124186547], [124189139, 124191866]]	[[124152716, 124152857], [124157433, 124157490], [124159858, 124159904], [124166091, 124166189], [124172435, 124172561], [124175374, 124175518], [124177415, 124177484], [124183714, 124183779], [124184411, 124184475], [124186457, 124186547], [124189139, 124189454]]
ENST00000481451	[[124171286, 124172561], [124175374, 124175518], [124177415, 124183779], [124184411, 124185247]]	None
NM_001001974	[[124134093, 124134322], [124152696, 124152857], [124157433, 124157490], [124159858, 124159904], [124166091, 124166189], [124172435, 124172561], [124175374, 124175518], [124177415, 124177484], [124183714, 124183779], [124184411, 124184475], [124186457, 124186547], [124189139, 124191871]]	[[124152716, 124152857], [124157433, 124157490], [124159858, 124159904], [124166091, 124166189], [124172435, 124172561], [124175374, 124175518], [124177415, 124177484], [124183714, 124183779], [124184411, 124184475], [124186457, 124186547], [124189139, 124189454]]
NM_001330178	[[124134093, 124134322], [124151818, 124151888], [124152696, 124152857], [124157433, 124157490], [124159858, 124159904], [124166091, 124166189], [124172435, 124172561], [124175374, 124175518], [124177415, 124177484], [124183714, 124183779], [124184411, 124184475], [124186457, 124186547], [124187791, 124187832], [124189139, 124191871]]	[[124152716, 124152857], [124157433, 124157490], [124159858, 124159904], [124166091, 124166189], [124172435, 124172561], [124175374, 124175518], [124177415, 124177484], [124183714, 124183779], [124184411, 124184475], [124186457, 124186547], [124187791, 124187832], [124189139, 124189350]]
NM_001195608	[[124145584, 124145703], [124151818, 124151888], [124152696, 124152857], [124157433, 124157490], [124159858, 124159904], [124166091, 124166189], [124172435, 124172561], [124175374, 124175518], [124177415, 124177484], [124183714, 124183779], [124184411, 124184475], [124186457, 124186547], [124187791, 124187936], [124189139, 124191871]]	[[124152716, 124152857], [124157433, 124157490], [124159858, 124159904], [124166091, 124166189], [124172435, 124172561], [124175374, 124175518], [124177415, 124177484], [124183714, 124183779], [124184411, 124184475], [124186457, 124186547], [124187791, 124187896]]
NM_021622	[[124151818, 124151888], [124152696, 124152857], [124157433, 124157490], [124159858, 124159904], [124166091, 124166189], [124172435, 124172561], [124175374, 124175518], [124177415, 124177484], [124183714, 124183779], [124184411, 124184475], [124186457, 124186547], [124189139, 124191871]]	[[124152716, 124152857], [124157433, 124157490], [124159858, 124159904], [124166091, 124166189], [124172435, 124172561], [124175374, 124175518], [124177415, 124177484], [124183714, 124183779], [124184411, 124184475], [124186457, 124186547], [124189139, 124189454]]

Promoter

Chrom	Start	End	Description
chr10	124134136	124134153	CAGE_peak_3_at_PLEKHA1_5end
chr10	124134155	124134196	CAGE_peak_2_at_PLEKHA1_5end
chr10	124134201	124134282	CAGE_peak_1_at_PLEKHA1_5end
chr10	124134803	124134859	CAGE_peak_4_at_PLEKHA1_5end
chr10	124134940	124134948	CAGE_peak_10_at_PLEKHA1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I122372	122372610	122377079	1.67	[{'connected_gene': 'PLEKHA1', 'score': 563.02}, {'connected_gene': 'ARMS2', 'score': 13.16}, {'connected_gene': 'BUB3', 'score': 10.1}, {'connected_gene': 'MIR3941', 'score': 0.26}]
chr10	GH10I122368	122368285	122369509	0.46	[{'connected_gene': 'PLEKHA1', 'score': 13.59}, {'connected_gene': 'ARMS2', 'score': 9.37}, {'connected_gene': 'RNU6-728P', 'score': 0.34}]
chr10	GH10I121578	121578740	121581753	1.25	[{'connected_gene': 'PLEKHA1', 'score': 4.95}, {'connected_gene': 'FGFR2', 'score': 3.62}, {'connected_gene': 'RN7SKP167', 'score': 0.1}]
chr10	GH10I122377	122377401	122377600	0.2	[{'connected_gene': 'PLEKHA1', 'score': 0.77}, {'connected_gene': 'MIR3941', 'score': 0.28}]
chr10	GH10I122407	122407885	122408034	0.2	[{'connected_gene': 'PLEKHA1', 'score': 28.1}, {'connected_gene': 'MIR3941', 'score': 0.44}]
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	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	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	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	GH10I122347	122347286	122347435	0.31	[{'connected_gene': 'RNU6-728P', 'score': 550.77}, {'connected_gene': 'GC10P122346', 'score': 550.77}, {'connected_gene': 'PLEKHA1', 'score': 0.31}]
chr10	GH10I122344	122344066	122345596	1.04	[{'connected_gene': 'RNU6-728P', 'score': 550.77}, {'connected_gene': 'GC10P122346', 'score': 550.77}, {'connected_gene': 'ARMS2', 'score': 8.36}, {'connected_gene': 'PLEKHA1', 'score': 6.49}, {'connected_gene': 'BTBD16', 'score': 0.19}]
chr10	GH10I122415	122415449	122418128	0.63	[{'connected_gene': 'LOC105378524', 'score': 550.77}, {'connected_gene': 'MIR3941', 'score': 550.77}, {'connected_gene': 'PLEKHA1', 'score': 15.64}, {'connected_gene': 'ARMS2', 'score': 9.63}]
chr10	GH10I122418	122418156	122418356	0.2	[{'connected_gene': 'LOC105378524', 'score': 550.77}, {'connected_gene': 'MIR3941', 'score': 550.77}, {'connected_gene': 'PIR55685', 'score': 0.39}, {'connected_gene': 'PLEKHA1', 'score': 0.26}]
chr10	GH10I121947	121947758	121947917	0.22	[{'connected_gene': 'GC10M121947', 'score': 550.77}, {'connected_gene': 'ENSG00000273767', 'score': 550.77}, {'connected_gene': 'GC10M121946', 'score': 550.77}, {'connected_gene': 'ATE1-AS1', 'score': 28.84}, {'connected_gene': 'BTBD16', 'score': 17.27}, {'connected_gene': 'NSMCE4A', 'score': 12.59}, {'connected_gene': 'PLEKHA1', 'score': 5.92}]
chr10	GH10I122017	122017816	122022172	1.53	[{'connected_gene': 'PIR33240', 'score': 550.77}, {'connected_gene': 'ATE1-AS1', 'score': 6.6}, {'connected_gene': 'TACC2', 'score': 3.46}, {'connected_gene': 'PLEKHA1', 'score': 1.68}, {'connected_gene': 'GC10M122037', 'score': 0.37}]