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
ENST00000610020	[[92764521, 92764703], [92765750, 92765796], [92767032, 92767147], [92769533, 92769632], [92769840, 92769906], [92772744, 92772833], [92786155, 92786191], [92789001, 92789932], [92798947, 92799030], [92801903, 92801984], [92811402, 92811471], [92846280, 92846430], [92852567, 92867613]]	[[92764630, 92764703], [92765750, 92765796], [92767032, 92767147], [92769533, 92769632], [92769840, 92769906], [92772744, 92772833], [92786155, 92786191], [92789001, 92789932], [92798947, 92799030], [92801903, 92801984], [92811402, 92811471], [92846280, 92846430], [92852567, 92852568]]
ENST00000477322	[[92798798, 92799030], [92801903, 92801984], [92811402, 92811471], [92846280, 92846430], [92852567, 92852790]]	None
ENST00000484158	[[92764641, 92764703], [92765750, 92765796], [92769533, 92769632], [92769840, 92769906], [92772744, 92772833], [92786155, 92786191], [92789001, 92789641]]	None
NM_024813	[[92764521, 92764703], [92765750, 92765796], [92767032, 92767147], [92769533, 92769632], [92769840, 92769906], [92772744, 92772833], [92786155, 92786191], [92789001, 92789932], [92798947, 92799030], [92801903, 92801984], [92811402, 92811471], [92846280, 92846430], [92852567, 92853732]]	[[92764630, 92764703], [92765750, 92765796], [92767032, 92767147], [92769533, 92769632], [92769840, 92769906], [92772744, 92772833], [92786155, 92786191], [92789001, 92789932], [92798947, 92799030], [92801903, 92801984], [92811402, 92811471], [92846280, 92846430], [92852567, 92852568]]

Promoter

Chrom	Start	End	Description
chr1	92764580	92764628	CAGE_peak_1_at_RPAP2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I092964	92964400	92965548	0.63	[{'connected_gene': 'RPAP2', 'score': 10.47}, {'connected_gene': 'ENSG00000189195', 'score': 10.09}, {'connected_gene': 'FAM69A', 'score': 8.25}, {'connected_gene': 'GC01P092961', 'score': 0.77}, {'connected_gene': 'GC01M092970', 'score': 0.77}]
chr1	GH01I091649	91649799	91652439	1.05	[{'connected_gene': 'RPAP2', 'score': 4.35}, {'connected_gene': 'HSP90B3P', 'score': 0.44}, {'connected_gene': 'GC01P091700', 'score': 0.25}]
chr1	GH01I092297	92297801	92300193	2.02	[{'connected_gene': 'RPAP2', 'score': 550.77}, {'connected_gene': 'GLMN', 'score': 550.11}, {'connected_gene': 'EVI5', 'score': 9.78}, {'connected_gene': 'GC01P092398', 'score': 0.15}]
chr1	GH01I091843	91843388	91847190	1.5	[{'connected_gene': 'RPAP2', 'score': 16.37}, {'connected_gene': 'GLMN', 'score': 13.87}, {'connected_gene': 'HFM1', 'score': 12.83}, {'connected_gene': 'GC01P091842', 'score': 0.77}, {'connected_gene': 'GC01M091855', 'score': 0.31}, {'connected_gene': 'TGFBR3', 'score': 0.21}]
chr1	GH01I092310	92310244	92310373	0.59	[{'connected_gene': 'RPAP2', 'score': 0.39}, {'connected_gene': 'GC01P092398', 'score': 0.17}, {'connected_gene': 'GLMN', 'score': 0.12}]
chr1	GH01I091802	91802642	91808430	1.91	[{'connected_gene': 'EVI5', 'score': 3.83}, {'connected_gene': 'RPAP2', 'score': 3.81}, {'connected_gene': 'TGFBR3', 'score': 2.25}, {'connected_gene': 'GLMN', 'score': 1.52}, {'connected_gene': 'GC01M091786', 'score': 0.44}, {'connected_gene': 'GC01M091783', 'score': 0.34}]
chr1	GH01I092328	92328772	92330445	0.2	[{'connected_gene': 'EVI5', 'score': 11.48}, {'connected_gene': 'RPAP2', 'score': 0.29}, {'connected_gene': 'GC01P092398', 'score': 0.2}, {'connected_gene': 'GLMN', 'score': 0.14}]
chr1	GH01I092365	92365481	92367069	0.56	[{'connected_gene': 'EVI5', 'score': 11.48}, {'connected_gene': 'FAM69A', 'score': 4.89}, {'connected_gene': 'GC01P092398', 'score': 0.29}, {'connected_gene': 'RPAP2', 'score': 0.2}, {'connected_gene': 'GLMN', 'score': 0.18}]
chr1	GH01I091882	91882840	91887238	2.27	[{'connected_gene': 'TGFBR3', 'score': 560.88}, {'connected_gene': 'HFM1', 'score': 36.23}, {'connected_gene': 'RPAP2', 'score': 22.53}, {'connected_gene': 'SNORA66', 'score': 18.46}, {'connected_gene': 'SNORD21', 'score': 18.06}, {'connected_gene': 'RPL5', 'score': 16.44}, {'connected_gene': 'GLMN', 'score': 15.32}, {'connected_gene': 'ENSG00000189195', 'score': 13.24}, {'connected_gene': 'ZNF644', 'score': 10.57}, {'connected_gene': 'GC01M091855', 'score': 0.39}]
chr1	GH01I092831	92831312	92835545	2.14	[{'connected_gene': 'RPL5', 'score': 611.59}, {'connected_gene': 'GC01P092832', 'score': 550.77}, {'connected_gene': 'SNORA66', 'score': 94.11}, {'connected_gene': 'SNORD21', 'score': 86.82}, {'connected_gene': 'CCDC18-AS1', 'score': 63.47}, {'connected_gene': 'MTF2', 'score': 60.33}, {'connected_gene': 'MIG7', 'score': 42.32}, {'connected_gene': 'DR1', 'score': 40.0}, {'connected_gene': 'GLMN', 'score': 28.81}, {'connected_gene': 'RPAP2', 'score': 19.39}, {'connected_gene': 'KIAA1107', 'score': 10.88}, {'connected_gene': 'ENSG00000189195', 'score': 10.09}, {'connected_gene': 'EVI5', 'score': 9.9}, {'connected_gene': 'TGFBR3', 'score': 9.87}, {'connected_gene': 'FAM69A', 'score': 9.6}, {'connected_gene': 'GC01P092838', 'score': 0.77}]
chr1	GH01I092313	92313824	92319287	1.14	[{'connected_gene': 'FAM69A', 'score': 4.14}, {'connected_gene': 'RPAP2', 'score': 3.34}, {'connected_gene': 'TGFBR3', 'score': 2.64}, {'connected_gene': 'GC01P092398', 'score': 0.18}, {'connected_gene': 'GLMN', 'score': 0.13}]
chr1	GH01I092876	92876791	92878604	1.32	[{'connected_gene': 'FAM69A', 'score': 558.73}, {'connected_gene': 'EVI5', 'score': 12.09}, {'connected_gene': 'RPAP2', 'score': 10.47}, {'connected_gene': 'ENSG00000189195', 'score': 10.09}, {'connected_gene': 'GC01M092852', 'score': 0.34}, {'connected_gene': 'LOC100127934', 'score': 0.23}]
chr1	GH01I093177	93177600	93182349	2.32	[{'connected_gene': 'CCDC18', 'score': 560.56}, {'connected_gene': 'GC01M093180', 'score': 550.77}, {'connected_gene': 'TMED5', 'score': 550.77}, {'connected_gene': 'CCDC18-AS1', 'score': 96.21}, {'connected_gene': 'SNORA66', 'score': 67.22}, {'connected_gene': 'SNORD21', 'score': 58.68}, {'connected_gene': 'RPL5', 'score': 43.08}, {'connected_gene': 'MIG7', 'score': 30.1}, {'connected_gene': 'DNTTIP2', 'score': 29.51}, {'connected_gene': 'RPAP2', 'score': 22.5}, {'connected_gene': 'GLMN', 'score': 21.01}, {'connected_gene': 'MTF2', 'score': 12.3}, {'connected_gene': 'DR1', 'score': 10.04}, {'connected_gene': 'FNBP1L', 'score': 4.7}]
chr1	GH01I092536	92536097	92539244	1.63	[{'connected_gene': 'SNORA66', 'score': 17.61}, {'connected_gene': 'EVI5', 'score': 15.51}, {'connected_gene': 'CCDC18-AS1', 'score': 13.49}, {'connected_gene': 'SNORD21', 'score': 12.39}, {'connected_gene': 'RPL5', 'score': 11.5}, {'connected_gene': 'FAM69A', 'score': 10.51}, {'connected_gene': 'RPAP2', 'score': 3.08}, {'connected_gene': 'GLMN', 'score': 2.89}, {'connected_gene': 'GFI1', 'score': 2.06}, {'connected_gene': 'GC01P092533', 'score': 0.77}, {'connected_gene': 'GC01P092559', 'score': 0.34}]
chr1	GH01I092803	92803513	92806601	1.38	[{'connected_gene': 'MTF2', 'score': 21.51}, {'connected_gene': 'GLMN', 'score': 21.33}, {'connected_gene': 'CCDC18-AS1', 'score': 15.75}, {'connected_gene': 'RPAP2', 'score': 14.01}, {'connected_gene': 'EVI5', 'score': 12.13}, {'connected_gene': 'MIG7', 'score': 11.61}, {'connected_gene': 'RPL5', 'score': 11.33}, {'connected_gene': 'SNORD21', 'score': 11.31}, {'connected_gene': 'SNORA66', 'score': 11.29}, {'connected_gene': 'GC01M092807', 'score': 0.77}]
chr1	GH01I093078	93078194	93082676	2.16	[{'connected_gene': 'MTF2', 'score': 602.55}, {'connected_gene': 'CCDC18-AS1', 'score': 148.72}, {'connected_gene': 'SNORA66', 'score': 54.71}, {'connected_gene': 'SNORD21', 'score': 50.35}, {'connected_gene': 'TRR-TCT1-1', 'score': 41.02}, {'connected_gene': 'GLMN', 'score': 40.91}, {'connected_gene': 'RPAP2', 'score': 40.48}, {'connected_gene': 'RPL5', 'score': 29.2}, {'connected_gene': 'DR1', 'score': 27.09}, {'connected_gene': 'DNTTIP2', 'score': 21.03}, {'connected_gene': 'KIAA1107', 'score': 14.18}, {'connected_gene': 'CCDC18', 'score': 10.93}, {'connected_gene': 'TMED5', 'score': 10.93}, {'connected_gene': 'FAM69A', 'score': 6.36}, {'connected_gene': 'GC01P093073', 'score': 0.44}, {'connected_gene': 'GC01P093147', 'score': 0.2}]
chr1	GH01I091863	91863876	91865160	1.31	[{'connected_gene': 'HFM1', 'score': 28.65}, {'connected_gene': 'RPAP2', 'score': 21.09}, {'connected_gene': 'GLMN', 'score': 13.49}, {'connected_gene': 'ENSG00000189195', 'score': 11.2}, {'connected_gene': 'GC01M091855', 'score': 0.39}, {'connected_gene': 'GC01P091842', 'score': 0.34}, {'connected_gene': 'TGFBR3', 'score': 0.26}]
chr1	GH01I091403	91403912	91405317	2	[{'connected_gene': 'HFM1', 'score': 584.92}, {'connected_gene': 'ENSG00000189195', 'score': 13.18}, {'connected_gene': 'RPAP2', 'score': 12.56}, {'connected_gene': 'GC01P091329', 'score': 0.18}]
chr1	GH01I092259	92259530	92259754	0.26	[{'connected_gene': 'GLMN', 'score': 1.59}, {'connected_gene': 'RPAP2', 'score': 1.47}, {'connected_gene': 'GC01M092280', 'score': 0.37}, {'connected_gene': 'PIR32757', 'score': 0.37}, {'connected_gene': 'ACTBP12', 'score': 0.29}]