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
ENST00000361337	[[39657457, 39657740], [39658070, 39658095], [39690033, 39690130], [39704810, 39704934], [39706221, 39706277], [39708724, 39708820], [39709804, 39709880], [39713101, 39713208], [39721111, 39721227], [39725859, 39725981], [39726854, 39726977], [39728695, 39728883], [39729848, 39729993], [39741421, 39741565], [39742609, 39742795], [39744010, 39744079], [39744917, 39745032], [39746808, 39746936], [39750335, 39750430], [39750645, 39750795], [39751834, 39753127]]	[[39657707, 39657740], [39658070, 39658095], [39690033, 39690130], [39704810, 39704934], [39706221, 39706277], [39708724, 39708820], [39709804, 39709880], [39713101, 39713208], [39721111, 39721227], [39725859, 39725981], [39726854, 39726977], [39728695, 39728883], [39729848, 39729993], [39741421, 39741565], [39742609, 39742795], [39744010, 39744079], [39744917, 39745032], [39746808, 39746936], [39750335, 39750430], [39750645, 39750795], [39751834, 39751937]]
NM_003286	[[39657457, 39657740], [39658070, 39658095], [39690033, 39690130], [39704810, 39704934], [39706221, 39706277], [39708724, 39708820], [39709804, 39709880], [39713101, 39713208], [39721111, 39721227], [39725859, 39725981], [39726854, 39726977], [39728695, 39728883], [39729848, 39729993], [39741421, 39741565], [39742609, 39742795], [39744010, 39744079], [39744917, 39745032], [39746808, 39746936], [39750335, 39750430], [39750645, 39750795], [39751834, 39753127]]	[[39657707, 39657740], [39658070, 39658095], [39690033, 39690130], [39704810, 39704934], [39706221, 39706277], [39708724, 39708820], [39709804, 39709880], [39713101, 39713208], [39721111, 39721227], [39725859, 39725981], [39726854, 39726977], [39728695, 39728883], [39729848, 39729993], [39741421, 39741565], [39742609, 39742795], [39744010, 39744079], [39744917, 39745032], [39746808, 39746936], [39750335, 39750430], [39750645, 39750795], [39751834, 39751937]]

Promoter

Chrom	Start	End	Description
chr20	39657454	39657470	CAGE_peak_1_at_TOP1_5end
chr20	39657493	39657507	CAGE_peak_2_at_TOP1_5end
chr20	39657515	39657526	CAGE_peak_3_at_TOP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I040561	40561741	40564081	1.23	[{'connected_gene': 'MAFB', 'score': 23.99}, {'connected_gene': 'TOP1', 'score': 5.03}, {'connected_gene': 'LOC102724968', 'score': 0.22}, {'connected_gene': 'LOC105372618', 'score': 0.15}]
chr20	GH20I040583	40583201	40583977	0.48	[{'connected_gene': 'MAFB', 'score': 8.01}, {'connected_gene': 'TOP1', 'score': 2.34}, {'connected_gene': 'LOC102724968', 'score': 0.28}, {'connected_gene': 'LOC105372618', 'score': 0.13}]
chr20	GH20I040990	40990161	40992608	1.68	[{'connected_gene': 'TOP1', 'score': 20.51}, {'connected_gene': 'MAFB', 'score': 13.66}, {'connected_gene': 'RNU2-52P', 'score': 12.73}, {'connected_gene': 'LOC105372621', 'score': 0.39}, {'connected_gene': 'LOC100128988', 'score': 0.39}]
chr20	GH20I041692	41692192	41695017	1.31	[{'connected_gene': 'TOP1', 'score': 41.84}, {'connected_gene': 'CHD6', 'score': 39.36}, {'connected_gene': 'PLCG1', 'score': 19.21}, {'connected_gene': 'PLCG1-AS1', 'score': 15.53}, {'connected_gene': 'LPIN3', 'score': 9.96}, {'connected_gene': 'GC20M041699', 'score': 0.44}, {'connected_gene': 'RNU6-1018P', 'score': 0.44}]
chr20	GH20I041133	41133119	41135245	1.15	[{'connected_gene': 'TOP1', 'score': 14.55}, {'connected_gene': 'LPIN3', 'score': 7.4}, {'connected_gene': 'PLCG1-AS1', 'score': 0.77}, {'connected_gene': 'PLCG1', 'score': 0.77}, {'connected_gene': 'GC20P041111', 'score': 0.34}]
chr20	GH20I040968	40968361	40969600	1.03	[{'connected_gene': 'TOP1', 'score': 11.1}, {'connected_gene': 'LPIN3', 'score': 10.96}, {'connected_gene': 'GC20M040979', 'score': 0.39}, {'connected_gene': 'GC20P040950', 'score': 0.37}]
chr20	GH20I041027	41027448	41031926	2.25	[{'connected_gene': 'TOP1', 'score': 576.36}, {'connected_gene': 'LPIN3', 'score': 7.96}, {'connected_gene': 'GC20P041037', 'score': 0.44}]
chr20	GH20I041046	41046111	41053688	1.38	[{'connected_gene': 'TOP1', 'score': 13.05}, {'connected_gene': 'RNU2-52P', 'score': 13.02}, {'connected_gene': 'CHD6', 'score': 11.94}, {'connected_gene': 'LPIN3', 'score': 6.08}, {'connected_gene': 'GC20P041040', 'score': 0.44}, {'connected_gene': 'GC20P041111', 'score': 0.21}]
chr20	GH20I041124	41124052	41126338	0.87	[{'connected_gene': 'TOP1', 'score': 23.62}, {'connected_gene': 'RNU2-52P', 'score': 10.63}, {'connected_gene': 'LPIN3', 'score': 8.63}, {'connected_gene': 'GC20P041111', 'score': 0.39}, {'connected_gene': 'PLCG1-AS1', 'score': 0.39}, {'connected_gene': 'PLCG1', 'score': 0.39}]
chr20	GH20I041091	41091871	41092519	0.66	[{'connected_gene': 'TOP1', 'score': 11.73}, {'connected_gene': 'RNU2-52P', 'score': 11.39}, {'connected_gene': 'LPIN3', 'score': 5.21}, {'connected_gene': 'GC20P041111', 'score': 0.37}, {'connected_gene': 'GC20P041040', 'score': 0.23}]
chr20	GH20I041086	41086372	41087643	1.11	[{'connected_gene': 'TOP1', 'score': 11.56}, {'connected_gene': 'RNU2-52P', 'score': 11.55}, {'connected_gene': 'PLCG1', 'score': 10.93}, {'connected_gene': 'PLCG1-AS1', 'score': 10.92}, {'connected_gene': 'GC20P041111', 'score': 0.34}, {'connected_gene': 'GC20P041040', 'score': 0.25}]
chr20	GH20I040981	40981848	40983223	0.72	[{'connected_gene': 'TOP1', 'score': 11.54}, {'connected_gene': 'RNU2-52P', 'score': 11.41}, {'connected_gene': 'LOC100128988', 'score': 0.77}, {'connected_gene': 'LOC105372621', 'score': 0.34}]
chr20	GH20I041057	41057627	41059146	1.24	[{'connected_gene': 'TOP1', 'score': 12.06}, {'connected_gene': 'RNU2-52P', 'score': 12.04}, {'connected_gene': 'GC20P041040', 'score': 0.37}, {'connected_gene': 'GC20P041111', 'score': 0.23}]
chr20	GH20I041071	41071602	41073781	1.22	[{'connected_gene': 'TOP1', 'score': 12.18}, {'connected_gene': 'RNU2-52P', 'score': 11.48}, {'connected_gene': 'GC20P041040', 'score': 0.29}, {'connected_gene': 'GC20P041111', 'score': 0.28}]
chr20	GH20I041095	41095481	41095650	0.92	[{'connected_gene': 'TOP1', 'score': 11.73}, {'connected_gene': 'RNU2-52P', 'score': 11.38}, {'connected_gene': 'GC20P041111', 'score': 0.37}, {'connected_gene': 'GC20P041040', 'score': 0.22}]
chr20	GH20I041055	41055201	41055600	0.58	[{'connected_gene': 'TOP1', 'score': 12.02}, {'connected_gene': 'RNU2-52P', 'score': 12.0}, {'connected_gene': 'GC20P041040', 'score': 0.37}, {'connected_gene': 'GC20P041111', 'score': 0.22}]
chr20	GH20I041075	41075507	41076163	0.85	[{'connected_gene': 'TOP1', 'score': 12.51}, {'connected_gene': 'RNU2-52P', 'score': 12.49}, {'connected_gene': 'GC20P041111', 'score': 0.28}, {'connected_gene': 'GC20P041040', 'score': 0.28}]
chr20	GH20I041054	41054601	41054750	0.49	[{'connected_gene': 'TOP1', 'score': 12.63}, {'connected_gene': 'RNU2-52P', 'score': 12.03}, {'connected_gene': 'GC20P041040', 'score': 0.39}, {'connected_gene': 'GC20P041111', 'score': 0.22}]
chr20	GH20I041078	41078361	41078650	0.97	[{'connected_gene': 'TOP1', 'score': 12.51}, {'connected_gene': 'RNU2-52P', 'score': 12.49}, {'connected_gene': 'GC20P041111', 'score': 0.29}, {'connected_gene': 'GC20P041040', 'score': 0.28}]
chr20	GH20I041260	41260423	41262621	0.89	[{'connected_gene': 'LPIN3', 'score': 21.07}, {'connected_gene': 'EMILIN3', 'score': 10.54}, {'connected_gene': 'TOP1', 'score': 9.72}, {'connected_gene': 'RN7SL615P', 'score': 0.31}, {'connected_gene': 'GC20M041291', 'score': 0.31}, {'connected_gene': 'PIR61683', 'score': 0.22}, {'connected_gene': 'ZHX3', 'score': 0.22}]
chr20	GH20I041648	41648654	41652435	0.85	[{'connected_gene': 'LPIN3', 'score': 19.38}, {'connected_gene': 'TOP1', 'score': 13.01}, {'connected_gene': 'CHD6', 'score': 0.29}, {'connected_gene': 'RNU6-1018P', 'score': 0.29}]
chr20	GH20I041117	41117554	41123278	0.72	[{'connected_gene': 'LPIN3', 'score': 16.18}, {'connected_gene': 'TOP1', 'score': 10.64}, {'connected_gene': 'RNU2-52P', 'score': 10.64}, {'connected_gene': 'GC20P041111', 'score': 0.44}, {'connected_gene': 'PLCG1-AS1', 'score': 0.37}, {'connected_gene': 'PLCG1', 'score': 0.37}]
chr20	GH20I041135	41135281	41135823	1.09	[{'connected_gene': 'PLCG1', 'score': 550.77}, {'connected_gene': 'TOP1', 'score': 14.55}, {'connected_gene': 'PLCG1-AS1', 'score': 0.77}, {'connected_gene': 'GC20P041111', 'score': 0.34}]
chr20	GH20I041300	41300061	41300210	0.7	[{'connected_gene': 'ZHX3', 'score': 550.37}, {'connected_gene': 'LPIN3', 'score': 11.25}, {'connected_gene': 'TOP1', 'score': 9.83}, {'connected_gene': 'RN7SL615P', 'score': 0.44}, {'connected_gene': 'GC20M041291', 'score': 0.44}]
chr20	GH20I041313	41313939	41319868	1.75	[{'connected_gene': 'ZHX3', 'score': 550.77}, {'connected_gene': 'PLCG1', 'score': 30.65}, {'connected_gene': 'CHD6', 'score': 22.56}, {'connected_gene': 'LPIN3', 'score': 20.36}, {'connected_gene': 'PLCG1-AS1', 'score': 10.21}, {'connected_gene': 'TOP1', 'score': 10.03}, {'connected_gene': 'RN7SL615P', 'score': 0.31}, {'connected_gene': 'GC20M041291', 'score': 0.31}]
chr20	GH20I040997	40997261	40997450	0.31	[{'connected_gene': 'RNU2-52P', 'score': 12.74}, {'connected_gene': 'TOP1', 'score': 12.73}, {'connected_gene': 'LOC105372621', 'score': 0.44}, {'connected_gene': 'LOC100128988', 'score': 0.37}]
chr20	GH20I040986	40986881	40987030	0.57	[{'connected_gene': 'RNU2-52P', 'score': 12.05}, {'connected_gene': 'TOP1', 'score': 12.04}, {'connected_gene': 'LOC100128988', 'score': 0.44}, {'connected_gene': 'LOC105372621', 'score': 0.37}]
chr20	GH20I040984	40984322	40986052	0.2	[{'connected_gene': 'RNU2-52P', 'score': 11.74}, {'connected_gene': 'TOP1', 'score': 11.72}, {'connected_gene': 'LOC100128988', 'score': 0.44}, {'connected_gene': 'LOC105372621', 'score': 0.34}]
chr20	GH20I041045	41045859	41045990	0.51	[{'connected_gene': 'RNU2-52P', 'score': 12.53}, {'connected_gene': 'GC20P041040', 'score': 0.44}, {'connected_gene': 'TOP1', 'score': 0.37}, {'connected_gene': 'GC20P041111', 'score': 0.2}]
chr20	GH20I041001	41001403	41010474	1.81	[{'connected_gene': 'LOC105372621', 'score': 550.77}, {'connected_gene': 'CHD6', 'score': 30.75}, {'connected_gene': 'PLCG1', 'score': 20.08}, {'connected_gene': 'MAFB', 'score': 18.53}, {'connected_gene': 'TOP1', 'score': 17.45}, {'connected_gene': 'PLCG1-AS1', 'score': 10.25}, {'connected_gene': 'LPIN3', 'score': 6.05}, {'connected_gene': 'EMILIN3', 'score': 4.49}, {'connected_gene': 'GC20M041019', 'score': 0.39}, {'connected_gene': 'LOC100128988', 'score': 0.31}]
chr20	GH20I041116	41116052	41116851	1.09	[{'connected_gene': 'PLCG1-AS1', 'score': 12.05}, {'connected_gene': 'PLCG1', 'score': 12.05}, {'connected_gene': 'TOP1', 'score': 10.58}, {'connected_gene': 'GC20P041111', 'score': 0.77}]
chr20	GH20I041037	41037520	41040365	1.11	[{'connected_gene': 'GC20P041037', 'score': 550.77}, {'connected_gene': 'GC20P041040', 'score': 550.77}, {'connected_gene': 'CHD6', 'score': 11.96}, {'connected_gene': 'LPIN3', 'score': 7.75}, {'connected_gene': 'TOP1', 'score': 0.39}]
chr20	GH20I041034	41034401	41034600	1.17	[{'connected_gene': 'GC20P041037', 'score': 0.77}, {'connected_gene': 'TOP1', 'score': 0.44}]
chr20	GH20I041040	41040392	41041724	0.31	[{'connected_gene': 'GC20P041040', 'score': 550.77}, {'connected_gene': 'TOP1', 'score': 0.39}, {'connected_gene': 'GC20P041111', 'score': 0.19}]
chr20	GH20I041098	41098610	41099040	0.52	[{'connected_gene': 'GC20P041111', 'score': 0.39}, {'connected_gene': 'PLCG1-AS1', 'score': 0.28}, {'connected_gene': 'GC20P041040', 'score': 0.22}, {'connected_gene': 'TOP1', 'score': 0.19}]
chr20	GH20I041110	41110981	41111150	0.83	[{'connected_gene': 'GC20P041111', 'score': 550.77}, {'connected_gene': 'PLCG1-AS1', 'score': 11.87}, {'connected_gene': 'PLCG1', 'score': 11.87}, {'connected_gene': 'GC20P041040', 'score': 0.19}, {'connected_gene': 'TOP1', 'score': 0.18}]
chr20	GH20I040978	40978444	40979584	0.2	[{'connected_gene': 'GC20M040979', 'score': 550.77}, {'connected_gene': 'LOC100128988', 'score': 550.77}, {'connected_gene': 'TOP1', 'score': 11.44}, {'connected_gene': 'MAFB', 'score': 4.45}, {'connected_gene': 'GC20P040950', 'score': 0.31}]
chr20	GH20I040980	40980086	40981421	0.72	[{'connected_gene': 'GC20M040979', 'score': 550.77}, {'connected_gene': 'LOC100128988', 'score': 550.77}, {'connected_gene': 'RNU2-52P', 'score': 11.65}, {'connected_gene': 'TOP1', 'score': 11.64}, {'connected_gene': 'LOC105372621', 'score': 0.31}]