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
ENST00000305626	[[140374960, 140375598], [140393839, 140397763]]	[[140375349, 140375598], [140393839, 140394280]]
ENST00000507271	[[140374385, 140374851], [140375330, 140375439]]	None
NM_031296	[[140374960, 140375598], [140393839, 140397070]]	[[140375349, 140375598], [140393839, 140394280]]

Promoter

Chrom	Start	End	Description
chr4	140374966	140375016	CAGE_peak_2_at_RAB33B_5end
chr4	140375224	140375317	CAGE_peak_1_at_RAB33B_5end
chr4	140375321	140375338	CAGE_peak_3_at_RAB33B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I139278	139278566	139280571	1.78	[{'connected_gene': 'MGARP', 'score': 550.77}, {'connected_gene': 'RAB33B', 'score': 13.93}, {'connected_gene': 'MAML3', 'score': 11.92}, {'connected_gene': 'ELF2', 'score': 11.45}, {'connected_gene': 'NDUFC1', 'score': 7.34}, {'connected_gene': 'RNU6-1074P', 'score': 0.34}, {'connected_gene': 'GC04M139257', 'score': 0.34}]
chr4	GH04I139241	139241167	139244691	1.28	[{'connected_gene': 'MGARP', 'score': 19.48}, {'connected_gene': 'ELF2', 'score': 11.42}, {'connected_gene': 'NDUFC1', 'score': 7.58}, {'connected_gene': 'RAB33B', 'score': 4.38}, {'connected_gene': 'RNU6-1074P', 'score': 0.39}, {'connected_gene': 'GC04M139257', 'score': 0.39}, {'connected_gene': 'RNU6-506P', 'score': 0.39}]
chr4	GH04I139441	139441077	139441356	0.2	[{'connected_gene': 'MGARP', 'score': 10.55}, {'connected_gene': 'GC04M139437', 'score': 0.77}, {'connected_gene': 'ENSG00000239005', 'score': 0.77}, {'connected_gene': 'LOC101927451', 'score': 0.39}, {'connected_gene': 'RAB33B', 'score': 0.39}, {'connected_gene': 'ENSG00000273247', 'score': 0.39}]
chr4	GH04I139323	139323401	139324200	0.46	[{'connected_gene': 'RAB33B', 'score': 17.28}, {'connected_gene': 'NAA15', 'score': 12.17}, {'connected_gene': 'NDUFC1', 'score': 12.17}, {'connected_gene': 'MGARP', 'score': 11.24}, {'connected_gene': 'H3F3AP6', 'score': 4.46}, {'connected_gene': 'RNU6-1214P', 'score': 0.44}, {'connected_gene': 'GC04P139370', 'score': 0.25}]
chr4	GH04I139460	139460601	139461551	0.46	[{'connected_gene': 'RAB33B', 'score': 22.1}, {'connected_gene': 'H3F3AP6', 'score': 4.48}, {'connected_gene': 'LOC101927451', 'score': 0.44}, {'connected_gene': 'GC04P139503', 'score': 0.26}]
chr4	GH04I139366	139366763	139367975	0.38	[{'connected_gene': 'RAB33B', 'score': 17.31}, {'connected_gene': 'GC04P139370', 'score': 0.77}, {'connected_gene': 'RNU6-1214P', 'score': 0.25}, {'connected_gene': 'NAA15', 'score': 0.2}]
chr4	GH04I139418	139418334	139420650	0.77	[{'connected_gene': 'RAB33B', 'score': 33.91}, {'connected_gene': 'GC04P139422', 'score': 0.77}, {'connected_gene': 'LOC105377449', 'score': 0.44}, {'connected_gene': 'LOC101927451', 'score': 0.29}, {'connected_gene': 'ENSG00000273247', 'score': 0.29}, {'connected_gene': 'NAA15', 'score': 0.13}]
chr9	GH09I104231	104231817	104234241	0.55	[{'connected_gene': 'SMC2', 'score': 27.68}, {'connected_gene': 'PIR59356', 'score': 0.34}, {'connected_gene': 'LOC105376194', 'score': 0.28}]
chr9	GH09I104258	104258400	104259466	0.2	[{'connected_gene': 'SMC2', 'score': 4.63}, {'connected_gene': 'LOC105376194', 'score': 0.39}, {'connected_gene': 'PIR59356', 'score': 0.25}]
chr9	GH09I104074	104074882	104077275	0.76	[{'connected_gene': 'SMC2', 'score': 14.85}, {'connected_gene': 'SMC2-AS1', 'score': 0.37}, {'connected_gene': 'LOC101928523', 'score': 0.18}]
chr9	GH09I104091	104091057	104096207	2.01	[{'connected_gene': 'SMC2', 'score': 583.09}, {'connected_gene': 'SMC2-AS1', 'score': 550.77}]
chr4	GH04I139451	139451766	139456756	2.08	[{'connected_gene': 'RAB33B', 'score': 571.52}, {'connected_gene': 'LOC101927451', 'score': 550.77}, {'connected_gene': 'ENSG00000273247', 'score': 550.77}, {'connected_gene': 'NDUFC1', 'score': 17.41}, {'connected_gene': 'MGARP', 'score': 5.79}, {'connected_gene': 'H3F3AP6', 'score': 4.48}, {'connected_gene': 'GC04P139503', 'score': 0.25}]
chr4	GH04I139312	139312402	139317250	1.39	[{'connected_gene': 'NDUFC1', 'score': 19.16}, {'connected_gene': 'MGARP', 'score': 17.06}, {'connected_gene': 'RAB33B', 'score': 7.47}, {'connected_gene': 'H3F3AP6', 'score': 4.46}, {'connected_gene': 'ELF2', 'score': 2.51}, {'connected_gene': 'GC04P139319', 'score': 0.77}, {'connected_gene': 'NAA15', 'score': 0.39}]
chr4	GH04I139294	139294702	139296807	2.27	[{'connected_gene': 'NDUFC1', 'score': 570.2}, {'connected_gene': 'GC04P139295', 'score': 550.77}, {'connected_gene': 'RAB33B', 'score': 15.1}, {'connected_gene': 'RNU6-1074P', 'score': 11.9}, {'connected_gene': 'ELF2', 'score': 11.25}, {'connected_gene': 'RNU6-1214P', 'score': 11.22}, {'connected_gene': 'NAA15', 'score': 0.44}]
chr4	GH04I139299	139299422	139303705	2.28	[{'connected_gene': 'NDUFC1', 'score': 570.82}, {'connected_gene': 'NAA15', 'score': 550.77}, {'connected_gene': 'RAB33B', 'score': 15.36}, {'connected_gene': 'MAML3', 'score': 11.8}, {'connected_gene': 'RNU6-1074P', 'score': 11.02}, {'connected_gene': 'MGARP', 'score': 10.89}, {'connected_gene': 'GC04P139295', 'score': 0.44}]
chr4	GH04I138967	138967085	138968200	1.11	[{'connected_gene': 'NOCT', 'score': 10.95}, {'connected_gene': 'LOC105377448', 'score': 10.95}, {'connected_gene': 'RAB33B', 'score': 6.57}, {'connected_gene': 'ENSG00000273247', 'score': 4.43}, {'connected_gene': 'GC04P138943', 'score': 0.34}]
chr4	GH04I139188	139188002	139189829	1.59	[{'connected_gene': 'NOCT', 'score': 19.38}, {'connected_gene': 'PPP1R14BP3', 'score': 12.51}, {'connected_gene': 'MGARP', 'score': 11.07}, {'connected_gene': 'RNU6-1074P', 'score': 10.91}, {'connected_gene': 'ELF2', 'score': 6.84}, {'connected_gene': 'RAB33B', 'score': 4.57}, {'connected_gene': 'RN7SL311P', 'score': 0.77}, {'connected_gene': 'GC04P139201', 'score': 0.39}, {'connected_gene': 'GC04P139173', 'score': 0.37}]
chr4	GH04I139096	139096530	139096646	0.26	[{'connected_gene': 'ELF2', 'score': 24.67}, {'connected_gene': 'MGARP', 'score': 11.5}, {'connected_gene': 'NOCT', 'score': 10.64}, {'connected_gene': 'LOC105377448', 'score': 10.64}, {'connected_gene': 'RAB33B', 'score': 1.86}, {'connected_gene': 'GC04P139099', 'score': 0.77}, {'connected_gene': 'RNU6-531P', 'score': 0.26}]
chr4	GH04I139400	139400251	139400565	0.37	[{'connected_gene': 'ELF2', 'score': 2.35}, {'connected_gene': 'RAB33B', 'score': 2.33}, {'connected_gene': 'NAA15', 'score': 1.93}, {'connected_gene': 'LOC105377449', 'score': 0.39}, {'connected_gene': 'GC04P139370', 'score': 0.31}]
chr4	GH04I139144	139144077	139145518	0.74	[{'connected_gene': 'ELF2', 'score': 18.59}, {'connected_gene': 'RAB33B', 'score': 4.95}, {'connected_gene': 'ENSG00000276396', 'score': 0.39}, {'connected_gene': 'PPP1R14BP3', 'score': 0.31}]
chr4	GH04I139081	139081527	139085966	2.44	[{'connected_gene': 'ELF2', 'score': 633.26}, {'connected_gene': 'NAA15', 'score': 27.16}, {'connected_gene': 'NOCT', 'score': 12.61}, {'connected_gene': 'ENSG00000273247', 'score': 12.48}, {'connected_gene': 'LOC105377448', 'score': 11.29}, {'connected_gene': 'MGARP', 'score': 11.23}, {'connected_gene': 'RAB33B', 'score': 6.91}, {'connected_gene': 'H3F3AP6', 'score': 5.87}, {'connected_gene': 'GC04P139099', 'score': 0.37}, {'connected_gene': 'RNU6-531P', 'score': 0.31}]
chr4	GH04I139175	139175485	139179242	2.53	[{'connected_gene': 'ELF2', 'score': 567.33}, {'connected_gene': 'NOCT', 'score': 13.28}, {'connected_gene': 'NDUFC1', 'score': 6.01}, {'connected_gene': 'RAB33B', 'score': 5.25}, {'connected_gene': 'GC04P139173', 'score': 0.77}, {'connected_gene': 'GC04P139186', 'score': 0.44}]
chr4	GH04I139213	139213533	139215135	1.32	[{'connected_gene': 'RNU6-1074P', 'score': 12.64}, {'connected_gene': 'ELF2', 'score': 12.24}, {'connected_gene': 'MGARP', 'score': 12.19}, {'connected_gene': 'MAML3', 'score': 11.8}, {'connected_gene': 'RAB33B', 'score': 5.25}, {'connected_gene': 'GC04P139211', 'score': 0.77}, {'connected_gene': 'RNU6-506P', 'score': 0.37}]
chr4	GH04I139230	139230697	139234489	0.2	[{'connected_gene': 'RNU6-506P', 'score': 550.77}, {'connected_gene': 'RNU6-1074P', 'score': 12.91}, {'connected_gene': 'MGARP', 'score': 12.47}, {'connected_gene': 'RAB33B', 'score': 9.79}, {'connected_gene': 'ELF2', 'score': 5.08}, {'connected_gene': 'GC04M139257', 'score': 0.34}]
chr4	GH04I139413	139413536	139413804	0.25	[{'connected_gene': 'LOC105377449', 'score': 550.77}, {'connected_gene': 'RAB33B', 'score': 20.61}, {'connected_gene': 'ELF2', 'score': 1.34}, {'connected_gene': 'GC04P139422', 'score': 0.44}, {'connected_gene': 'LOC101927451', 'score': 0.26}, {'connected_gene': 'ENSG00000273247', 'score': 0.26}, {'connected_gene': 'NAA15', 'score': 0.14}]