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
ENST00000366684	[[229566991, 229567389], [229567467, 229567649], [229567740, 229567932], [229568016, 229568178], [229568302, 229568627], [229568733, 229568874], [229569750, 229569841]]	[[229567245, 229567389], [229567467, 229567649], [229567740, 229567932], [229568016, 229568178], [229568302, 229568627], [229568733, 229568862]]
ENST00000366683	[[229566995, 229567389], [229567467, 229567649], [229567740, 229567932], [229568404, 229568627], [229568733, 229568874], [229569750, 229569845]]	[[229567245, 229567389], [229567467, 229567649], [229567740, 229567932], [229568404, 229568627], [229568733, 229568862]]
NM_001100	[[229566991, 229567389], [229567467, 229567649], [229567740, 229567932], [229568016, 229568178], [229568302, 229568627], [229568733, 229568874], [229569750, 229569843]]	[[229567245, 229567389], [229567467, 229567649], [229567740, 229567932], [229568016, 229568178], [229568302, 229568627], [229568733, 229568862]]

Promoter

Chrom	Start	End	Description
chr1	229568763	229568795	CAGE_peak_2_at_ACTA1_5end
chr1	229568799	229568810	CAGE_peak_4_at_ACTA1_5end
chr1	229568817	229568825	CAGE_peak_5_at_ACTA1_5end
chr1	229568832	229568877	CAGE_peak_3_at_ACTA1_5end
chr1	229569834	229569849	CAGE_peak_1_at_ACTA1_5end
chr1	229569980	229570011	CAGE_peak_6_at_ACTA1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I228720	228720403	228722852	0.74	[{'connected_gene': 'TMEM78', 'score': 10.98}, {'connected_gene': 'ACTA1', 'score': 10.32}, {'connected_gene': 'GC01M228722', 'score': 0.44}, {'connected_gene': 'GC01M228756', 'score': 0.31}, {'connected_gene': 'RHOU', 'score': 0.18}]
chr1	GH01I228797	228797828	228798885	0.46	[{'connected_gene': 'TMEM78', 'score': 9.94}, {'connected_gene': 'ACTA1', 'score': 8.9}, {'connected_gene': 'GC01M228858', 'score': 0.77}, {'connected_gene': 'LOC100421842', 'score': 0.34}]
chr1	GH01I229482	229482074	229482243	0.65	[{'connected_gene': 'TMEM78', 'score': 11.49}, {'connected_gene': 'RNU4-21P', 'score': 10.85}, {'connected_gene': 'ACTA1', 'score': 10.84}, {'connected_gene': 'ABCB10', 'score': 10.8}, {'connected_gene': 'CCSAP', 'score': 10.55}, {'connected_gene': 'GC01M229453', 'score': 0.31}, {'connected_gene': 'NUP133', 'score': 0.31}]
chr1	GH01I229430	229430814	229437094	1.73	[{'connected_gene': 'ACTA1', 'score': 550.77}, {'connected_gene': 'PIR46413', 'score': 550.77}, {'connected_gene': 'HMGN2P19', 'score': 18.39}, {'connected_gene': 'RNU6-180P', 'score': 11.21}, {'connected_gene': 'CCSAP', 'score': 10.9}]
chr1	GH01I229252	229252172	229255138	1.53	[{'connected_gene': 'NUP133', 'score': 26.25}, {'connected_gene': 'ENSG00000269890', 'score': 19.43}, {'connected_gene': 'HMGN2P19', 'score': 10.8}, {'connected_gene': 'TAF5L', 'score': 10.77}, {'connected_gene': 'ACTA1', 'score': 10.16}, {'connected_gene': 'ENSG00000226920', 'score': 10.07}, {'connected_gene': 'ABCB10', 'score': 9.98}, {'connected_gene': 'DUSP5P1', 'score': 9.95}, {'connected_gene': 'LOC105373158', 'score': 8.6}, {'connected_gene': 'CCSAP', 'score': 2.73}, {'connected_gene': 'URB2', 'score': 1.95}, {'connected_gene': 'RAB4A', 'score': 1.95}, {'connected_gene': 'LOC102723935', 'score': 0.77}, {'connected_gene': 'TMEM78', 'score': 0.77}, {'connected_gene': 'GC01M228906', 'score': 0.2}]
chr1	GH01I229925	229925260	229925439	0.33	[{'connected_gene': 'ABCB10', 'score': 9.04}, {'connected_gene': 'ACTA1', 'score': 2.48}, {'connected_gene': 'LOC105373163', 'score': 0.34}, {'connected_gene': 'LINC01736', 'score': 0.18}]
chr1	GH01I229286	229286596	229288096	0.63	[{'connected_gene': 'CCSAP', 'score': 22.51}, {'connected_gene': 'ENSG00000237481', 'score': 12.16}, {'connected_gene': 'TMEM78', 'score': 10.88}, {'connected_gene': 'ACTA1', 'score': 10.58}, {'connected_gene': 'GC01P229306', 'score': 0.37}, {'connected_gene': 'RAB4A', 'score': 0.37}, {'connected_gene': 'GC01P229305', 'score': 0.37}, {'connected_gene': 'GC01M228906', 'score': 0.28}]
chr1	GH01I229341	229341000	229344797	2.05	[{'connected_gene': 'CCSAP', 'score': 561.64}, {'connected_gene': 'NUP133', 'score': 41.41}, {'connected_gene': 'HIST3H3', 'score': 28.8}, {'connected_gene': 'URB2', 'score': 21.44}, {'connected_gene': 'RNU6-180P', 'score': 11.3}, {'connected_gene': 'ACTA1', 'score': 10.43}, {'connected_gene': 'TMEM78', 'score': 10.01}, {'connected_gene': 'GC01M228906', 'score': 0.34}]
chr1	GH01I229278	229278076	229280092	0.79	[{'connected_gene': 'CCSAP', 'score': 17.88}, {'connected_gene': 'SPHAR', 'score': 11.9}, {'connected_gene': 'ENSG00000237481', 'score': 11.34}, {'connected_gene': 'RNU6-180P', 'score': 10.94}, {'connected_gene': 'TMEM78', 'score': 10.69}, {'connected_gene': 'ACTA1', 'score': 10.18}, {'connected_gene': 'ABCB10', 'score': 9.72}, {'connected_gene': 'RNU4-21P', 'score': 9.56}, {'connected_gene': 'RAB4A', 'score': 6.84}, {'connected_gene': 'GC01P229306', 'score': 0.34}, {'connected_gene': 'GC01P229305', 'score': 0.34}, {'connected_gene': 'GC01M228906', 'score': 0.26}]
chr1	GH01I229347	229347594	229347743	0.46	[{'connected_gene': 'RNU6-180P', 'score': 11.32}, {'connected_gene': 'ACTA1', 'score': 10.44}, {'connected_gene': 'TMEM78', 'score': 10.01}, {'connected_gene': 'CCSAP', 'score': 0.77}, {'connected_gene': 'GC01P229362', 'score': 0.39}]
chr1	GH01I229349	229349620	229350257	0.69	[{'connected_gene': 'RNU6-180P', 'score': 11.77}, {'connected_gene': 'ENSG00000237481', 'score': 11.27}, {'connected_gene': 'ACTA1', 'score': 10.89}, {'connected_gene': 'CCSAP', 'score': 0.44}, {'connected_gene': 'GC01P229362', 'score': 0.39}]
chr1	GH01I229406	229406700	229412450	1.31	[{'connected_gene': 'RN7SKP276', 'score': 557.1}, {'connected_gene': 'ACTA1', 'score': 22.95}, {'connected_gene': 'CCSAP', 'score': 13.71}, {'connected_gene': 'RNU6-180P', 'score': 12.64}, {'connected_gene': 'GC01M229362', 'score': 0.44}, {'connected_gene': 'GC01P229362', 'score': 0.25}]
chr1	GH01I229280	229280434	229280583	0.83	[{'connected_gene': 'SPHAR', 'score': 11.92}, {'connected_gene': 'ENSG00000237481', 'score': 11.35}, {'connected_gene': 'TMEM78', 'score': 10.89}, {'connected_gene': 'CCSAP', 'score': 10.67}, {'connected_gene': 'ACTA1', 'score': 10.58}, {'connected_gene': 'RNU6-180P', 'score': 10.43}, {'connected_gene': 'RAB4A', 'score': 0.44}, {'connected_gene': 'GC01P229306', 'score': 0.34}, {'connected_gene': 'GC01P229305', 'score': 0.34}, {'connected_gene': 'GC01M228906', 'score': 0.26}]
chr1	GH01I228791	228791394	228795019	0.94	[{'connected_gene': 'LOC105373159', 'score': 17.74}, {'connected_gene': 'ACTA1', 'score': 9.52}, {'connected_gene': 'GC01M228858', 'score': 0.44}, {'connected_gene': 'LOC100421842', 'score': 0.37}]
chr1	GH01I229201	229201945	229206195	1.29	[{'connected_gene': 'LOC105373158', 'score': 44.92}, {'connected_gene': 'ENSG00000233920', 'score': 12.35}, {'connected_gene': 'URB2', 'score': 12.15}, {'connected_gene': 'TMEM78', 'score': 11.04}, {'connected_gene': 'ACTA1', 'score': 10.41}, {'connected_gene': 'HIST3H3', 'score': 10.14}, {'connected_gene': 'GC01M228906', 'score': 0.13}]
chr1	GH01I229190	229190200	229192877	1.17	[{'connected_gene': 'LOC105373158', 'score': 47.13}, {'connected_gene': 'ACTA1', 'score': 9.97}, {'connected_gene': 'RNU6-180P', 'score': 9.26}, {'connected_gene': 'RHOU', 'score': 2.12}, {'connected_gene': 'ENSG00000233920', 'score': 0.28}, {'connected_gene': 'GC01M228906', 'score': 0.12}]
chr1	GH01I229198	229198596	229200994	1.23	[{'connected_gene': 'LOC105373158', 'score': 45.99}, {'connected_gene': 'ENSG00000233920', 'score': 12.32}, {'connected_gene': 'NUP133', 'score': 12.26}, {'connected_gene': 'TMEM78', 'score': 11.04}, {'connected_gene': 'ACTA1', 'score': 9.86}, {'connected_gene': 'RHOU', 'score': 3.38}, {'connected_gene': 'CCSAP', 'score': 1.27}, {'connected_gene': 'GC01M228906', 'score': 0.13}]
chr1	GH01I229207	229207553	229211092	0.93	[{'connected_gene': 'LOC105373158', 'score': 45.34}, {'connected_gene': 'HMGN2P19', 'score': 12.32}, {'connected_gene': 'ENSG00000269890', 'score': 11.79}, {'connected_gene': 'HIST3H3', 'score': 11.51}, {'connected_gene': 'TMEM78', 'score': 10.57}, {'connected_gene': 'ACTA1', 'score': 10.41}, {'connected_gene': 'ENSG00000233920', 'score': 0.37}, {'connected_gene': 'GC01M228906', 'score': 0.14}]
chr1	GH01I229478	229478561	229481578	0.73	[{'connected_gene': 'HMGN2P19', 'score': 33.82}, {'connected_gene': 'TMEM78', 'score': 11.49}, {'connected_gene': 'LOC105373159', 'score': 11.29}, {'connected_gene': 'RAB4A', 'score': 11.29}, {'connected_gene': 'ACTA1', 'score': 10.84}, {'connected_gene': 'RNU4-21P', 'score': 10.84}, {'connected_gene': 'ABCB10', 'score': 10.8}, {'connected_gene': 'RNU6-180P', 'score': 10.72}, {'connected_gene': 'CCSAP', 'score': 10.69}, {'connected_gene': 'GC01M229453', 'score': 0.34}, {'connected_gene': 'NUP133', 'score': 0.31}]
chr1	GH01I229258	229258035	229258800	1.16	[{'connected_gene': 'PIR41159', 'score': 550.77}, {'connected_gene': 'LOC102723935', 'score': 550.77}, {'connected_gene': 'CCSAP', 'score': 10.86}, {'connected_gene': 'ACTA1', 'score': 10.56}, {'connected_gene': 'RNU6-180P', 'score': 10.5}, {'connected_gene': 'LOC105373158', 'score': 10.09}, {'connected_gene': 'ENSG00000237481', 'score': 5.53}, {'connected_gene': 'LOC105373159', 'score': 0.39}, {'connected_gene': 'GC01M228906', 'score': 0.21}]