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
ENST00000366687	[[229456757, 229461158], [229462484, 229462753], [229477845, 229478264]]	[[229460981, 229461158], [229462484, 229462753], [229477845, 229478212]]
ENST00000284617	[[229456762, 229461158], [229462484, 229462753], [229477845, 229478260], [229478658, 229478735]]	[[229460981, 229461158], [229462484, 229462753], [229477845, 229478212]]
ENST00000366686	[[229457261, 229461158], [229462484, 229462753], [229476147, 229476380]]	[[229460981, 229461158], [229462484, 229462753], [229476147, 229476172]]
ENST00000483092	[[229459285, 229461158], [229462484, 229463305], [229477845, 229478260], [229478658, 229479041]]	None
ENST00000452552	[[229463282, 229463305], [229477845, 229478264]]	[[229463282, 229463305], [229477845, 229478212]]
NM_145257	[[229456751, 229461158], [229462484, 229462753], [229477845, 229478260], [229478658, 229478688]]	[[229460981, 229461158], [229462484, 229462753], [229477845, 229478212]]

Promoter

Chrom	Start	End	Description
chr1	229460173	229460177	CAGE_peak_4_at_C1orf96_5end
chr1	229478236	229478308	CAGE_peak_1_at_C1orf96_5end
chr1	229478319	229478335	CAGE_peak_3_at_C1orf96_5end
chr1	229478684	229478694	CAGE_peak_7_at_C1orf96_5end
chr1	229478714	229478815	CAGE_peak_2_at_C1orf96_5end
chr1	229478819	229478822	CAGE_peak_8_at_C1orf96_5end
chr1	229479019	229479046	CAGE_peak_5_at_C1orf96_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I229153	229153634	229156804	1.2	[{'connected_gene': 'TMEM78', 'score': 10.52}, {'connected_gene': 'CCSAP', 'score': 5.56}, {'connected_gene': 'LOC105373158', 'score': 0.31}, {'connected_gene': 'GC01M229181', 'score': 0.31}, {'connected_gene': 'ISCA1P2', 'score': 0.14}, {'connected_gene': 'GC01M228906', 'score': 0.1}]
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	GH01I229267	229267960	229273343	2.46	[{'connected_gene': 'RAB4A', 'score': 556.0}, {'connected_gene': 'LOC105373159', 'score': 550.77}, {'connected_gene': 'NUP133', 'score': 58.34}, {'connected_gene': 'URB2', 'score': 31.69}, {'connected_gene': 'ENSG00000269890', 'score': 21.46}, {'connected_gene': 'HIST3H3', 'score': 18.71}, {'connected_gene': 'CCSAP', 'score': 11.35}, {'connected_gene': 'TAF5L', 'score': 11.15}, {'connected_gene': 'TMEM78', 'score': 10.83}, {'connected_gene': 'ABCB10', 'score': 10.72}, {'connected_gene': 'ENSG00000226920', 'score': 10.08}, {'connected_gene': 'DUSP5P1', 'score': 9.95}, {'connected_gene': 'HMGN2P19', 'score': 9.91}, {'connected_gene': 'PIR40038', 'score': 0.44}, {'connected_gene': 'GC01M228906', 'score': 0.23}]
chr1	GH01I229326	229326201	229326400	0.38	[{'connected_gene': 'RAB4A', 'score': 11.59}, {'connected_gene': 'LOC105373159', 'score': 11.59}, {'connected_gene': 'RNU6-180P', 'score': 10.7}, {'connected_gene': 'GC01M228906', 'score': 0.77}, {'connected_gene': 'CCSAP', 'score': 0.37}]
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	GH01I229228	229228818	229232636	1.68	[{'connected_gene': 'NUP133', 'score': 43.95}, {'connected_gene': 'ENSG00000269890', 'score': 38.16}, {'connected_gene': 'HMGN2P19', 'score': 21.2}, {'connected_gene': 'HIST3H3', 'score': 21.13}, {'connected_gene': 'LOC105373158', 'score': 13.8}, {'connected_gene': 'ABCB10', 'score': 11.61}, {'connected_gene': 'URB2', 'score': 10.15}, {'connected_gene': 'ENSG00000226920', 'score': 10.06}, {'connected_gene': 'DUSP5P1', 'score': 9.95}, {'connected_gene': 'CCSAP', 'score': 2.94}, {'connected_gene': 'RHOU', 'score': 2.25}, {'connected_gene': 'SPHAR', 'score': 1.34}, {'connected_gene': 'ENSG00000233920', 'score': 0.77}, {'connected_gene': 'TMEM78', 'score': 0.37}, {'connected_gene': 'GC01M228906', 'score': 0.16}]
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	GH01I229273	229273360	229274797	1.38	[{'connected_gene': 'CCSAP', 'score': 11.47}, {'connected_gene': 'TMEM78', 'score': 10.83}, {'connected_gene': 'RAB4A', 'score': 4.36}, {'connected_gene': 'GC01P229306', 'score': 0.31}, {'connected_gene': 'GC01P229305', 'score': 0.31}, {'connected_gene': 'GC01M228906', 'score': 0.25}]
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	GH01I229032	229030754	229031052	0.96	[{'connected_gene': 'CCSAP', 'score': 2.44}, {'connected_gene': 'RAB4A', 'score': 1.72}, {'connected_gene': 'ENSG00000282111', 'score': 0.44}, {'connected_gene': 'GC01P229014', 'score': 0.37}, {'connected_gene': 'GC01M228906', 'score': 0.06}]
chr1	GH01I229295	229295866	229297692	0.43	[{'connected_gene': 'CCSAP', 'score': 22.69}, {'connected_gene': 'ENSG00000237481', 'score': 11.84}, {'connected_gene': 'RAB4A', 'score': 6.25}, {'connected_gene': 'GC01P229306', 'score': 0.44}, {'connected_gene': 'GC01P229305', 'score': 0.44}, {'connected_gene': 'GC01M228906', 'score': 0.31}]
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	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	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	GH01I229447	229447715	229448751	0.86	[{'connected_gene': 'HMGN2P19', 'score': 18.52}, {'connected_gene': 'CCSAP', 'score': 10.82}, {'connected_gene': 'RNU6-180P', 'score': 10.61}, {'connected_gene': 'GC01M229453', 'score': 0.44}, {'connected_gene': 'ENSG00000226920', 'score': 0.44}, {'connected_gene': 'NUP133', 'score': 0.21}]
chr1	GH01I229363	229363834	229364003	0.49	[{'connected_gene': 'GC01P229362', 'score': 550.77}, {'connected_gene': 'CCSAP', 'score': 11.91}, {'connected_gene': 'RNU6-180P', 'score': 0.37}, {'connected_gene': 'GC01M229362', 'score': 0.23}]
chr1	GH01I229339	229339154	229340941	0.63	[{'connected_gene': 'ENSG00000237481', 'score': 11.61}, {'connected_gene': 'RNU6-180P', 'score': 10.43}, {'connected_gene': 'RNU4-21P', 'score': 9.41}, {'connected_gene': 'ABCB10', 'score': 9.4}, {'connected_gene': 'CCSAP', 'score': 0.77}, {'connected_gene': 'GC01M228906', 'score': 0.37}]
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}]
chr1	GH01I229440	229440511	229441850	1.01	[{'connected_gene': 'ENSG00000226920', 'score': 550.77}, {'connected_gene': 'HMGN2P19', 'score': 18.46}, {'connected_gene': 'RNU6-180P', 'score': 11.2}, {'connected_gene': 'CCSAP', 'score': 10.89}, {'connected_gene': 'GC01M229453', 'score': 0.39}, {'connected_gene': 'NUP133', 'score': 0.2}]