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
ENST00000509851	[[77305531, 77305568], [77305708, 77305818], [77324290, 77324433], [77333242, 77333285], [77335413, 77335517], [77342893, 77342996]]	None
ENST00000504868	[[77317421, 77317639], [77324290, 77324433], [77333242, 77333285], [77342893, 77343021]]	None
ENST00000504667	[[77234153, 77234399], [77244454, 77244562], [77247009, 77247168], [77250052, 77250120], [77252496, 77252556], [77253584, 77253644], [77255117, 77255320], [77272148, 77272274], [77272872, 77274434], [77276476, 77276589], [77278526, 77278679], [77283278, 77283468], [77288446, 77288787]]	None
ENST00000388914	[[77234154, 77234399], [77244454, 77244562], [77247009, 77247168], [77250052, 77250120], [77252496, 77252556], [77253584, 77253644], [77255174, 77255320], [77272148, 77272274], [77272872, 77272965], [77274275, 77274434], [77276476, 77276589], [77278526, 77278679], [77283278, 77283468], [77288446, 77288929], [77290578, 77290776], [77292569, 77292689], [77300442, 77300557], [77303762, 77303873], [77304814, 77304891], [77305240, 77305568], [77305708, 77305818], [77317421, 77317639], [77324290, 77324429], [77328374, 77328458]]	[[77234322, 77234399], [77244454, 77244562], [77247009, 77247168], [77250052, 77250120], [77252496, 77252556], [77253584, 77253644], [77255174, 77255320], [77272148, 77272274], [77272872, 77272965], [77274275, 77274434], [77276476, 77276589], [77278526, 77278679], [77283278, 77283468], [77288446, 77288929], [77290578, 77290776], [77292569, 77292689], [77300442, 77300557], [77303762, 77303873], [77304814, 77304891], [77305240, 77305568], [77305708, 77305818], [77317421, 77317639], [77324290, 77324360]]
ENST00000434846	[[77296329, 77296857], [77300442, 77300557], [77303762, 77303873], [77304814, 77304891], [77305240, 77305568], [77305708, 77305818], [77317421, 77317639], [77324290, 77324429], [77328374, 77328476]]	[[77296665, 77296857], [77300442, 77300557], [77303762, 77303873], [77304814, 77304891], [77305240, 77305568], [77305708, 77305818], [77317421, 77317639], [77324290, 77324360]]
NM_001042784	[[77234191, 77234399], [77244454, 77244562], [77247009, 77247168], [77250052, 77250120], [77252496, 77252556], [77253584, 77253644], [77255174, 77255320], [77272148, 77272274], [77272872, 77272965], [77274275, 77274434], [77276476, 77276589], [77278526, 77278679], [77283278, 77283468], [77288446, 77288929], [77290578, 77290776], [77292569, 77292689], [77300442, 77300557], [77303762, 77303873], [77304814, 77304891], [77305240, 77305568], [77305708, 77305818], [77317421, 77317639], [77324290, 77324429], [77328374, 77328458]]	[[77234322, 77234399], [77244454, 77244562], [77247009, 77247168], [77250052, 77250120], [77252496, 77252556], [77253584, 77253644], [77255174, 77255320], [77272148, 77272274], [77272872, 77272965], [77274275, 77274434], [77276476, 77276589], [77278526, 77278679], [77283278, 77283468], [77288446, 77288929], [77290578, 77290776], [77292569, 77292689], [77300442, 77300557], [77303762, 77303873], [77304814, 77304891], [77305240, 77305568], [77305708, 77305818], [77317421, 77317639], [77324290, 77324360]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I075695	75695105	75696975	0.88	[{'connected_gene': 'G3BP2', 'score': 6.94}, {'connected_gene': 'CDKL2', 'score': 5.53}, {'connected_gene': 'CCDC158', 'score': 4.92}, {'connected_gene': 'USO1', 'score': 4.8}, {'connected_gene': 'NAAA', 'score': 4.41}, {'connected_gene': 'RCHY1', 'score': 1.61}, {'connected_gene': 'THAP6', 'score': 1.55}, {'connected_gene': 'NUP54', 'score': 1.5}, {'connected_gene': 'GC04M075663', 'score': 0.29}, {'connected_gene': 'ENSG00000201644', 'score': 0.29}]
chr4	GH04I075701	75701860	75706972	1.03	[{'connected_gene': 'G3BP2', 'score': 18.94}, {'connected_gene': 'USO1', 'score': 18.4}, {'connected_gene': 'CDKL2', 'score': 11.04}, {'connected_gene': 'ODAPH', 'score': 10.13}, {'connected_gene': 'CCDC158', 'score': 5.36}, {'connected_gene': 'GC04M075663', 'score': 0.26}, {'connected_gene': 'ENSG00000201644', 'score': 0.26}]
chr4	GH04I076299	76299801	76303213	1.44	[{'connected_gene': 'STBD1', 'score': 14.38}, {'connected_gene': 'SCARB2', 'score': 11.74}, {'connected_gene': 'FAM47E', 'score': 11.7}, {'connected_gene': 'CCDC158', 'score': 10.59}, {'connected_gene': 'GC04M076287', 'score': 0.25}, {'connected_gene': 'FAM47E-STBD1', 'score': 0.25}]
chr4	GH04I076304	76304768	76309197	2.18	[{'connected_gene': 'STBD1', 'score': 566.68}, {'connected_gene': 'CCDC158', 'score': 17.14}, {'connected_gene': 'SCARB2', 'score': 11.73}, {'connected_gene': 'FAM47E', 'score': 11.69}, {'connected_gene': 'RNU6-1000P', 'score': 10.7}, {'connected_gene': 'NUP54', 'score': 10.58}, {'connected_gene': 'GC04M076318', 'score': 0.39}, {'connected_gene': 'GC04M076287', 'score': 0.26}, {'connected_gene': 'FAM47E-STBD1', 'score': 0.22}]
chr4	GH04I076457	76457166	76461009	1.12	[{'connected_gene': 'SHROOM3', 'score': 12.24}, {'connected_gene': 'CCDC158', 'score': 11.02}, {'connected_gene': 'STBD1', 'score': 4.5}, {'connected_gene': 'ENSG00000249278', 'score': 0.23}]
chr4	GH04I076434	76434766	76436252	1.43	[{'connected_gene': 'SHROOM3', 'score': 550.77}, {'connected_gene': 'CCDC158', 'score': 5.86}, {'connected_gene': 'STBD1', 'score': 4.17}, {'connected_gene': 'ENSG00000249278', 'score': 0.19}]
chr4	GH04I076430	76430908	76430997	0.62	[{'connected_gene': 'SHROOM3', 'score': 0.77}, {'connected_gene': 'CCDC158', 'score': 0.44}]
chr4	GH04I076177	76177208	76179442	0.49	[{'connected_gene': 'NUP54', 'score': 28.81}, {'connected_gene': 'SCARB2', 'score': 21.86}, {'connected_gene': 'FAM47E', 'score': 11.38}, {'connected_gene': 'CCDC158', 'score': 11.27}, {'connected_gene': 'STBD1', 'score': 10.8}, {'connected_gene': 'RNU6-1000P', 'score': 10.41}, {'connected_gene': 'ART3', 'score': 6.02}, {'connected_gene': 'GC04P076210', 'score': 0.29}]
chr4	GH04I076179	76179968	76180077	0.97	[{'connected_gene': 'NUP54', 'score': 26.61}, {'connected_gene': 'FAM47E', 'score': 11.39}, {'connected_gene': 'SCARB2', 'score': 11.33}, {'connected_gene': 'CCDC158', 'score': 11.27}, {'connected_gene': 'STBD1', 'score': 10.8}, {'connected_gene': 'RNU6-1000P', 'score': 10.36}, {'connected_gene': 'GC04P076210', 'score': 0.29}]
chr4	GH04I076420	76420802	76421599	0.38	[{'connected_gene': 'CCDC158', 'score': 550.77}, {'connected_gene': 'STBD1', 'score': 13.57}, {'connected_gene': 'NAAA', 'score': 5.1}, {'connected_gene': 'GC04P076410', 'score': 0.39}]
chr4	GH04I076380	76380244	76381107	0.38	[{'connected_gene': 'CCDC158', 'score': 29.25}, {'connected_gene': 'STBD1', 'score': 17.06}, {'connected_gene': 'RNU6-1000P', 'score': 11.43}, {'connected_gene': 'SCARB2', 'score': 10.88}, {'connected_gene': 'FAM47E', 'score': 10.87}, {'connected_gene': 'SHROOM3', 'score': 10.39}, {'connected_gene': 'GC04M076357', 'score': 0.34}, {'connected_gene': 'RPL36AP18', 'score': 0.34}]
chr4	GH04I076513	76513094	76514124	0.54	[{'connected_gene': 'CCDC158', 'score': 9.16}, {'connected_gene': 'ENSG00000249278', 'score': 0.77}, {'connected_gene': 'GC04P076525', 'score': 0.39}, {'connected_gene': 'SHROOM3', 'score': 0.18}]
chr4	GH04I076498	76498114	76499348	0.72	[{'connected_gene': 'CCDC158', 'score': 9.23}, {'connected_gene': 'ENSG00000249278', 'score': 0.39}, {'connected_gene': 'SHROOM3', 'score': 0.21}]
chr4	GH04I076388	76388588	76388737	0.57	[{'connected_gene': 'CCDC158', 'score': 12.66}, {'connected_gene': 'RNU6-1000P', 'score': 10.71}, {'connected_gene': 'SHROOM3', 'score': 10.42}, {'connected_gene': 'STBD1', 'score': 7.02}, {'connected_gene': 'RPL36AP18', 'score': 0.39}, {'connected_gene': 'GC04M076357', 'score': 0.29}]
chr4	GH04I076377	76377392	76377908	0.95	[{'connected_gene': 'CCDC158', 'score': 22.92}, {'connected_gene': 'RPL36AP18', 'score': 12.2}, {'connected_gene': 'ENSG00000199857', 'score': 12.2}, {'connected_gene': 'RNU6-1000P', 'score': 11.43}, {'connected_gene': 'STBD1', 'score': 10.95}, {'connected_gene': 'SCARB2', 'score': 10.88}, {'connected_gene': 'FAM47E', 'score': 10.86}, {'connected_gene': 'SHROOM3', 'score': 10.72}, {'connected_gene': 'GC04M076357', 'score': 0.34}]
chr4	GH04I076448	76448904	76450234	0.49	[{'connected_gene': 'CCDC158', 'score': 22.26}, {'connected_gene': 'RPL36AP18', 'score': 10.91}, {'connected_gene': 'ENSG00000199857', 'score': 10.91}, {'connected_gene': 'RNU6-1000P', 'score': 10.0}, {'connected_gene': 'RNU6-145P', 'score': 9.98}, {'connected_gene': 'STBD1', 'score': 5.1}, {'connected_gene': 'SHROOM3', 'score': 0.39}, {'connected_gene': 'ENSG00000249278', 'score': 0.21}]
chr4	GH04I076447	76447408	76447557	0.2	[{'connected_gene': 'CCDC158', 'score': 11.18}, {'connected_gene': 'RPL36AP18', 'score': 10.91}, {'connected_gene': 'ENSG00000199857', 'score': 10.91}, {'connected_gene': 'RNU6-1000P', 'score': 10.0}, {'connected_gene': 'RNU6-145P', 'score': 9.71}, {'connected_gene': 'SHROOM3', 'score': 0.39}, {'connected_gene': 'ENSG00000249278', 'score': 0.21}]
chr4	GH04I076449	76447648	76447951	0.2	[{'connected_gene': 'CCDC158', 'score': 18.96}, {'connected_gene': 'RPL36AP18', 'score': 10.91}, {'connected_gene': 'ENSG00000199857', 'score': 10.91}, {'connected_gene': 'RNU6-1000P', 'score': 10.0}, {'connected_gene': 'RNU6-145P', 'score': 9.71}, {'connected_gene': 'SHROOM3', 'score': 0.39}, {'connected_gene': 'ENSG00000249278', 'score': 0.21}]
chr4	GH04I076378	76378001	76378400	0.98	[{'connected_gene': 'RNU6-1000P', 'score': 11.43}, {'connected_gene': 'CCDC158', 'score': 11.31}, {'connected_gene': 'SCARB2', 'score': 10.88}, {'connected_gene': 'FAM47E', 'score': 10.86}, {'connected_gene': 'STBD1', 'score': 10.6}, {'connected_gene': 'SHROOM3', 'score': 10.38}, {'connected_gene': 'GC04M076357', 'score': 0.34}, {'connected_gene': 'RPL36AP18', 'score': 0.34}]
chr4	GH04I076250	76250870	76252623	2.17	[{'connected_gene': 'LOC105377286', 'score': 550.77}, {'connected_gene': 'FAM47E-STBD1', 'score': 550.77}, {'connected_gene': 'ART3', 'score': 21.11}, {'connected_gene': 'FAM47E', 'score': 19.62}, {'connected_gene': 'CCDC158', 'score': 7.67}, {'connected_gene': 'SCARB2', 'score': 6.82}, {'connected_gene': 'STBD1', 'score': 0.23}]
chr4	GH04I076341	76341168	76341317	0.73	[{'connected_gene': 'SNX5P1', 'score': 0.77}, {'connected_gene': 'GC04M076287', 'score': 0.44}, {'connected_gene': 'GC04M076318', 'score': 0.34}, {'connected_gene': 'CCDC158', 'score': 0.18}]
chr4	GH04I076223	76223376	76224794	0.31	[{'connected_gene': 'FAM47E', 'score': 17.97}, {'connected_gene': 'CCDC158', 'score': 10.48}, {'connected_gene': 'RNU6-1000P', 'score': 10.01}, {'connected_gene': 'NUP54', 'score': 9.94}, {'connected_gene': 'SCARB2', 'score': 5.27}, {'connected_gene': 'CXCL11', 'score': 4.44}]