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
ENST00000398955	[[140187316, 140188195], [140189825, 140189919], [140196442, 140196546], [140201230, 140201492]]	[[140187752, 140188195], [140189825, 140189919], [140196442, 140196546], [140201230, 140201312]]
NM_032623	[[140187316, 140188195], [140189825, 140189919], [140196442, 140196546], [140201230, 140201492]]	[[140187752, 140188195], [140189825, 140189919], [140196442, 140196546], [140201230, 140201312]]

Promoter

Chrom	Start	End	Description
chr4	140201333	140201396	CAGE_peak_1_at_C4orf49_5end
chr4	140201597	140201617	CAGE_peak_2_at_C4orf49_5end
chr4	140201625	140201651	CAGE_peak_3_at_C4orf49_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	GH04I139357	139357840	139358206	0.28	[{'connected_gene': 'MGARP', 'score': 17.64}, {'connected_gene': 'H3F3AP6', 'score': 4.52}, {'connected_gene': 'GC04P139370', 'score': 0.39}, {'connected_gene': 'RNU6-1214P', 'score': 0.28}, {'connected_gene': 'NAA15', 'score': 0.22}]
chr4	GH04I139030	139030323	139031125	0.73	[{'connected_gene': 'MGARP', 'score': 10.59}, {'connected_gene': 'NOCT', 'score': 0.39}, {'connected_gene': 'RNU6-531P', 'score': 0.34}, {'connected_gene': 'ELF2', 'score': 0.11}]
chr4	GH04I139020	139020094	139021411	0.56	[{'connected_gene': 'MGARP', 'score': 10.78}, {'connected_gene': 'NOCT', 'score': 0.77}, {'connected_gene': 'RNU6-531P', 'score': 0.29}]
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	GH04I139027	139027759	139028848	0.62	[{'connected_gene': 'MGARP', 'score': 10.6}, {'connected_gene': 'ELF2', 'score': 5.02}, {'connected_gene': 'NOCT', 'score': 0.39}, {'connected_gene': 'RNU6-531P', 'score': 0.31}]
chr4	GH04I139169	139169386	139169585	0.46	[{'connected_gene': 'MGARP', 'score': 11.19}, {'connected_gene': 'GC04P139173', 'score': 0.77}, {'connected_gene': 'ELF2', 'score': 0.44}, {'connected_gene': 'ENSG00000276396', 'score': 0.39}]
chr4	GH04I139167	139167337	139169089	1.15	[{'connected_gene': 'MGARP', 'score': 11.19}, {'connected_gene': 'GC04P139173', 'score': 0.44}, {'connected_gene': 'ELF2', 'score': 0.44}, {'connected_gene': 'ENSG00000276396', 'score': 0.39}]
chr4	GH04I139223	139223787	139224001	0.66	[{'connected_gene': 'MGARP', 'score': 12.65}, {'connected_gene': 'RNU6-1074P', 'score': 12.57}, {'connected_gene': 'ELF2', 'score': 12.21}, {'connected_gene': 'RNU6-506P', 'score': 0.44}, {'connected_gene': 'GC04P139211', '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	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	GH04I139574	139574504	139577892	0.66	[{'connected_gene': 'SETD7', 'score': 11.91}, {'connected_gene': 'MGARP', 'score': 9.77}, {'connected_gene': 'LOC105377451', 'score': 0.44}]
chr4	GH04I139528	139528232	139529416	0.97	[{'connected_gene': 'SETD7', 'score': 18.09}, {'connected_gene': 'MGARP', 'score': 10.09}, {'connected_gene': 'FTH1P24', 'score': 0.37}, {'connected_gene': 'PIR37632', 'score': 0.34}, {'connected_gene': 'GC04M139508', 'score': 0.34}]
chr4	GH04I140078	140078083	140079179	1.06	[{'connected_gene': 'MAML3', 'score': 27.83}, {'connected_gene': 'ELF2', 'score': 14.05}, {'connected_gene': 'ELMOD2', 'score': 12.67}, {'connected_gene': 'LOC101927516', 'score': 11.85}, {'connected_gene': 'MGARP', 'score': 9.76}, {'connected_gene': 'TNRC18P1', 'score': 9.71}, {'connected_gene': 'GC04M140002', 'score': 0.19}]
chr4	GH04I139156	139156417	139161123	0.8	[{'connected_gene': 'MAML3', 'score': 11.92}, {'connected_gene': 'RNU6-1074P', 'score': 11.88}, {'connected_gene': 'ELF2', 'score': 11.67}, {'connected_gene': 'MGARP', 'score': 11.11}, {'connected_gene': 'LOC105377448', 'score': 10.44}, {'connected_gene': 'NOCT', 'score': 10.44}, {'connected_gene': 'ENSG00000276396', 'score': 0.77}, {'connected_gene': 'GC04P139173', 'score': 0.39}]
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	GH04I139282	139282016	139283276	0.43	[{'connected_gene': 'NDUFC1', 'score': 15.79}, {'connected_gene': 'MGARP', 'score': 0.77}, {'connected_gene': 'GC04P139295', 'score': 0.39}]
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	GH04I139266	139266001	139267551	1.19	[{'connected_gene': 'NDUFC1', 'score': 10.26}, {'connected_gene': 'NOCT', 'score': 4.75}, {'connected_gene': 'RNU6-1074P', 'score': 0.39}, {'connected_gene': 'GC04M139257', 'score': 0.39}, {'connected_gene': 'MGARP', 'score': 0.39}]
chr4	GH04I139040	139039785	139040019	0.39	[{'connected_gene': 'NOCT', 'score': 13.85}, {'connected_gene': 'LOC105377448', 'score': 11.7}, {'connected_gene': 'MGARP', 'score': 10.59}, {'connected_gene': 'NAA15', 'score': 1.3}, {'connected_gene': 'RNU6-531P', 'score': 0.37}, {'connected_gene': 'ELF2', 'score': 0.12}]
chr4	GH04I139039	139039068	139039552	0.28	[{'connected_gene': 'NOCT', 'score': 18.86}, {'connected_gene': 'LOC105377448', 'score': 11.7}, {'connected_gene': 'MGARP', 'score': 10.59}, {'connected_gene': 'ELF2', 'score': 4.85}, {'connected_gene': 'RNU6-531P', 'score': 0.37}]
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	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	GH04I139227	139227353	139228808	0.68	[{'connected_gene': 'ELF2', 'score': 16.68}, {'connected_gene': 'RNU6-1074P', 'score': 12.88}, {'connected_gene': 'MGARP', 'score': 12.66}, {'connected_gene': 'RNU6-506P', 'score': 0.77}, {'connected_gene': 'GC04P139211', 'score': 0.37}]
chr4	GH04I139207	139207201	139209545	1.26	[{'connected_gene': 'ELF2', 'score': 17.37}, {'connected_gene': 'RNU6-1074P', 'score': 12.63}, {'connected_gene': 'MGARP', 'score': 12.15}, {'connected_gene': 'GC04P139211', 'score': 0.77}, {'connected_gene': 'ENSG00000207384', 'score': 0.44}, {'connected_gene': 'GC04P139173', 'score': 0.29}]
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	GH04I139229	139229401	139229800	0.68	[{'connected_gene': 'RNU6-506P', 'score': 550.77}, {'connected_gene': 'RNU6-1074P', 'score': 12.88}, {'connected_gene': 'MGARP', 'score': 12.45}, {'connected_gene': 'GC04P139211', 'score': 0.37}]
chr4	GH04I139115	139115001	139115400	0.61	[{'connected_gene': 'PPP1R14BP3', 'score': 550.77}, {'connected_gene': 'ELF2', 'score': 11.63}, {'connected_gene': 'RNU6-1074P', 'score': 11.42}, {'connected_gene': 'MGARP', 'score': 11.04}, {'connected_gene': 'RN7SL382P', 'score': 0.39}]
chr4	GH04I139163	139163601	139164000	0.81	[{'connected_gene': 'PPP1R14BP3', 'score': 12.56}, {'connected_gene': 'RNU6-1074P', 'score': 11.88}, {'connected_gene': 'MGARP', 'score': 11.11}, {'connected_gene': 'NOCT', 'score': 10.44}, {'connected_gene': 'LOC105377448', 'score': 10.43}, {'connected_gene': 'GC04P139173', 'score': 0.44}, {'connected_gene': 'ENSG00000276396', 'score': 0.44}, {'connected_gene': 'ELF2', 'score': 0.39}]
chr4	GH04I139151	139151881	139156008	1.13	[{'connected_gene': 'ENSG00000276396', 'score': 550.77}, {'connected_gene': 'ELF2', 'score': 17.88}, {'connected_gene': 'RNU6-1074P', 'score': 11.87}, {'connected_gene': 'MGARP', 'score': 11.29}, {'connected_gene': 'NOCT', 'score': 10.45}, {'connected_gene': 'LOC105377448', 'score': 10.44}, {'connected_gene': 'PPP1R14BP3', 'score': 0.28}]
chr4	GH04I139099	139099507	139099676	0.72	[{'connected_gene': 'GC04P139099', 'score': 550.77}, {'connected_gene': 'RN7SL382P', 'score': 550.77}, {'connected_gene': 'ELF2', 'score': 11.79}, {'connected_gene': 'MGARP', 'score': 11.5}, {'connected_gene': 'NOCT', 'score': 10.22}, {'connected_gene': 'LOC105377448', 'score': 10.21}, {'connected_gene': 'RNU6-531P', 'score': 0.26}]