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
ENST00000229270	[[6976282, 6976845], [6978027, 6978151], [6978262, 6978347], [6978421, 6978554], [6978851, 6978937], [6979212, 6979300], [6979428, 6980112]]	[[6976619, 6976845], [6978027, 6978151], [6978262, 6978347], [6978421, 6978554], [6978851, 6978937], [6979212, 6979300], [6979428, 6979547]]
ENST00000396705	[[6976694, 6976845], [6978027, 6978151], [6978262, 6978347], [6978421, 6978554], [6978851, 6978937], [6979212, 6979300], [6979428, 6979992]]	[[6976730, 6976845], [6978027, 6978151], [6978262, 6978347], [6978421, 6978554], [6978851, 6978937], [6979212, 6979300], [6979428, 6979547]]
ENST00000488464	[[6977263, 6977419], [6978027, 6978151], [6978262, 6978347], [6978421, 6978554], [6978851, 6978937], [6979212, 6979300], [6979428, 6979547]]	[[6978269, 6978347], [6978421, 6978554], [6978851, 6978937], [6979212, 6979300], [6979428, 6979547]]
ENST00000535434	[[6977277, 6977673], [6978027, 6978151], [6978262, 6978347], [6978421, 6978554], [6978851, 6978937], [6979212, 6979300], [6979428, 6979992]]	[[6978269, 6978347], [6978421, 6978554], [6978851, 6978937], [6979212, 6979300], [6979428, 6979547]]
ENST00000493987	[[6977304, 6977673], [6978027, 6978151], [6978262, 6978347], [6978421, 6978554], [6978851, 6978937], [6979212, 6979254]]	[[6978269, 6978347], [6978421, 6978554], [6978851, 6978937], [6979212, 6979254]]
ENST00000462761	[[6977360, 6977487], [6978027, 6978151], [6978262, 6978347], [6978421, 6978459]]	[[6978269, 6978347], [6978421, 6978459]]
ENST00000495834	[[6977632, 6978151], [6978262, 6978347], [6978421, 6978554], [6978851, 6978934]]	[[6978269, 6978347], [6978421, 6978554], [6978851, 6978934]]
ENST00000482209	[[6978711, 6978937], [6979199, 6979301]]	None
ENST00000474253	[[6979180, 6979300], [6979428, 6979735]]	None
NM_001159287	[[6976583, 6976845], [6978027, 6978151], [6978262, 6978347], [6978421, 6978554], [6978851, 6978937], [6979212, 6979300], [6979428, 6980110]]	[[6976619, 6976845], [6978027, 6978151], [6978262, 6978347], [6978421, 6978554], [6978851, 6978937], [6979212, 6979300], [6979428, 6979547]]
NM_000365	[[6976692, 6976845], [6978027, 6978151], [6978262, 6978347], [6978421, 6978554], [6978851, 6978937], [6979212, 6979300], [6979428, 6980110]]	[[6976730, 6976845], [6978027, 6978151], [6978262, 6978347], [6978421, 6978554], [6978851, 6978937], [6979212, 6979300], [6979428, 6979547]]
NM_001258026	[[6977277, 6977673], [6978027, 6978151], [6978262, 6978347], [6978421, 6978554], [6978851, 6978937], [6979212, 6979300], [6979428, 6980110]]	[[6978269, 6978347], [6978421, 6978554], [6978851, 6978937], [6979212, 6979300], [6979428, 6979547]]

Promoter

Chrom	Start	End	Description
chr12	6976687	6976696	CAGE_peak_1_at_TPI1_5end
chr12	6977258	6977319	CAGE_peak_2_at_TPI1_5end
chr12	6977323	6977334	CAGE_peak_7_at_TPI1_5end
chr12	6978028	6978039	CAGE_peak_3_at_TPI1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I006788	6788596	6793556	2.34	[{'connected_gene': 'CD4', 'score': 571.4}, {'connected_gene': 'LPAR5', 'score': 12.8}, {'connected_gene': 'GPR162', 'score': 12.29}, {'connected_gene': 'P3H3', 'score': 12.27}, {'connected_gene': 'PTPN6', 'score': 11.88}, {'connected_gene': 'ING4', 'score': 11.75}, {'connected_gene': 'PTMS', 'score': 11.52}, {'connected_gene': 'MLF2', 'score': 11.29}, {'connected_gene': 'GNB3', 'score': 11.18}, {'connected_gene': 'PIANP', 'score': 11.11}, {'connected_gene': 'USP5', 'score': 10.97}, {'connected_gene': 'CDCA3', 'score': 10.97}, {'connected_gene': 'ATN1', 'score': 10.68}, {'connected_gene': 'ENSG00000219410', 'score': 10.68}, {'connected_gene': 'ACRBP', 'score': 10.66}, {'connected_gene': 'TPI1', 'score': 10.32}, {'connected_gene': 'LRRC23', 'score': 10.31}, {'connected_gene': 'RPL13P5', 'score': 10.31}, {'connected_gene': 'SPSB2', 'score': 10.29}, {'connected_gene': 'GAPDH', 'score': 5.06}, {'connected_gene': 'CD27', 'score': 3.94}, {'connected_gene': 'TAPBPL', 'score': 3.76}, {'connected_gene': 'IFFO1', 'score': 2.62}, {'connected_gene': 'ZNF384', 'score': 2.38}, {'connected_gene': 'CHD4', 'score': 1.34}]
chr12	GH12I006866	6866005	6874482	2.28	[{'connected_gene': 'SPSB2', 'score': 601.36}, {'connected_gene': 'TPI1', 'score': 556.22}, {'connected_gene': 'PIR60823', 'score': 550.77}, {'connected_gene': 'ZNF384', 'score': 40.99}, {'connected_gene': 'ING4', 'score': 36.34}, {'connected_gene': 'ENSG00000219410', 'score': 35.65}, {'connected_gene': 'ATN1', 'score': 25.37}, {'connected_gene': 'ENSG00000247853', 'score': 24.31}, {'connected_gene': 'P3H3', 'score': 20.02}, {'connected_gene': 'CHD4', 'score': 13.61}, {'connected_gene': 'LOC100419928', 'score': 12.69}, {'connected_gene': 'NCAPD2', 'score': 12.37}, {'connected_gene': 'GNB3', 'score': 12.09}, {'connected_gene': 'ENSG00000256967', 'score': 10.07}, {'connected_gene': 'LRRC23', 'score': 7.62}, {'connected_gene': 'CDCA3', 'score': 6.37}, {'connected_gene': 'EMG1', 'score': 6.16}, {'connected_gene': 'GC12P006867', 'score': 0.77}, {'connected_gene': 'RPL13P5', 'score': 0.77}, {'connected_gene': 'GC12P006869', 'score': 0.77}, {'connected_gene': 'USP5', 'score': 0.37}]
chr12	GH12I006849	6849741	6855154	2.52	[{'connected_gene': 'CDCA3', 'score': 557.53}, {'connected_gene': 'USP5', 'score': 552.86}, {'connected_gene': 'SPSB2', 'score': 44.45}, {'connected_gene': 'ZNF384', 'score': 43.46}, {'connected_gene': 'NOP2', 'score': 25.83}, {'connected_gene': 'ENSG00000247853', 'score': 23.64}, {'connected_gene': 'CHD4', 'score': 23.64}, {'connected_gene': 'ENSG00000219410', 'score': 16.17}, {'connected_gene': 'SCARNA12', 'score': 13.96}, {'connected_gene': 'ENSG00000256967', 'score': 13.21}, {'connected_gene': 'LAG3', 'score': 12.25}, {'connected_gene': 'C1RL-AS1', 'score': 12.08}, {'connected_gene': 'NCAPD2', 'score': 11.99}, {'connected_gene': 'TNFRSF1A', 'score': 11.01}, {'connected_gene': 'EMG1', 'score': 10.46}, {'connected_gene': 'TPI1', 'score': 6.21}, {'connected_gene': 'P3H3', 'score': 1.8}, {'connected_gene': 'COPS7A', 'score': 1.71}, {'connected_gene': 'GAPDH', 'score': 1.4}]
chr12	GH12I006477	6477670	6477929	0.25	[{'connected_gene': 'PKP2P1', 'score': 550.77}, {'connected_gene': 'TAPBPL', 'score': 11.78}, {'connected_gene': 'CD27-AS1', 'score': 11.78}, {'connected_gene': 'CD27', 'score': 11.16}, {'connected_gene': 'IFFO1', 'score': 11.0}, {'connected_gene': 'NOP2', 'score': 10.93}, {'connected_gene': 'CHD4', 'score': 10.9}, {'connected_gene': 'PLEKHG6', 'score': 2.39}, {'connected_gene': 'TPI1', 'score': 1.71}, {'connected_gene': 'NCAPD2', 'score': 0.37}]
chr12	GH12I006734	6734815	6734964	0.31	[{'connected_gene': 'PTMS', 'score': 12.61}, {'connected_gene': 'MLF2', 'score': 12.61}, {'connected_gene': 'LAG3', 'score': 12.6}, {'connected_gene': 'CD4', 'score': 11.58}, {'connected_gene': 'GPR162', 'score': 11.52}, {'connected_gene': 'P3H3', 'score': 11.51}, {'connected_gene': 'ENSG00000219410', 'score': 11.08}, {'connected_gene': 'ING4', 'score': 11.08}, {'connected_gene': 'ACRBP', 'score': 11.05}, {'connected_gene': 'CHD4', 'score': 10.96}, {'connected_gene': 'LPAR5', 'score': 10.72}, {'connected_gene': 'USP5', 'score': 10.64}, {'connected_gene': 'LRRC23', 'score': 10.63}, {'connected_gene': 'RPL13P5', 'score': 10.63}, {'connected_gene': 'TPI1', 'score': 10.63}, {'connected_gene': 'SPSB2', 'score': 10.61}, {'connected_gene': 'NOP2', 'score': 10.32}, {'connected_gene': 'IFFO1', 'score': 10.32}, {'connected_gene': 'ENSG00000269892', 'score': 0.44}, {'connected_gene': 'COPS7A', 'score': 0.39}]
chr12	GH12I006735	6735275	6736420	0.97	[{'connected_gene': 'PTMS', 'score': 12.63}, {'connected_gene': 'MLF2', 'score': 12.61}, {'connected_gene': 'LAG3', 'score': 12.6}, {'connected_gene': 'CD4', 'score': 11.58}, {'connected_gene': 'GPR162', 'score': 11.52}, {'connected_gene': 'P3H3', 'score': 11.51}, {'connected_gene': 'ENSG00000219410', 'score': 11.08}, {'connected_gene': 'ING4', 'score': 11.08}, {'connected_gene': 'ACRBP', 'score': 11.05}, {'connected_gene': 'CHD4', 'score': 10.96}, {'connected_gene': 'LPAR5', 'score': 10.72}, {'connected_gene': 'USP5', 'score': 10.64}, {'connected_gene': 'LRRC23', 'score': 10.63}, {'connected_gene': 'RPL13P5', 'score': 10.63}, {'connected_gene': 'TPI1', 'score': 10.63}, {'connected_gene': 'SPSB2', 'score': 10.61}, {'connected_gene': 'NOP2', 'score': 10.32}, {'connected_gene': 'IFFO1', 'score': 10.32}, {'connected_gene': 'COPS7A', 'score': 6.27}, {'connected_gene': 'ENSG00000269892', 'score': 0.44}]
chr12	GH12I006923	6923732	6930569	2.54	[{'connected_gene': 'ATN1', 'score': 557.39}, {'connected_gene': 'ZNF384', 'score': 48.77}, {'connected_gene': 'LRRC23', 'score': 40.16}, {'connected_gene': 'CHD4', 'score': 38.87}, {'connected_gene': 'ENSG00000219410', 'score': 37.11}, {'connected_gene': 'ENSG00000247853', 'score': 34.12}, {'connected_gene': 'SCARNA12', 'score': 30.39}, {'connected_gene': 'EMG1', 'score': 25.25}, {'connected_gene': 'PHB2', 'score': 21.46}, {'connected_gene': 'RPL13P5', 'score': 20.8}, {'connected_gene': 'NCAPD2', 'score': 14.09}, {'connected_gene': 'USP5', 'score': 13.17}, {'connected_gene': 'SPSB2', 'score': 13.09}, {'connected_gene': 'NOP2', 'score': 12.74}, {'connected_gene': 'MIR200CHG', 'score': 11.79}, {'connected_gene': 'MIR200C', 'score': 11.79}, {'connected_gene': 'MIR141', 'score': 11.79}, {'connected_gene': 'TPI1', 'score': 11.13}, {'connected_gene': 'C1S', 'score': 10.95}, {'connected_gene': 'GDF3', 'score': 10.89}, {'connected_gene': 'C1R', 'score': 10.32}, {'connected_gene': 'LAG3', 'score': 10.12}, {'connected_gene': 'C1RL-AS1', 'score': 10.08}, {'connected_gene': 'RBP5', 'score': 5.41}, {'connected_gene': 'PTMS', 'score': 2.23}, {'connected_gene': 'ACSM4', 'score': 1.37}, {'connected_gene': 'C12orf57', 'score': 0.37}]
chr12	GH12I006930	6930837	6931278	0.2	[{'connected_gene': 'MIR200CHG', 'score': 11.81}, {'connected_gene': 'MIR200C', 'score': 11.81}, {'connected_gene': 'MIR141', 'score': 11.81}, {'connected_gene': 'EMG1', 'score': 11.79}, {'connected_gene': 'SCARNA12', 'score': 11.79}, {'connected_gene': 'PHB2', 'score': 11.79}, {'connected_gene': 'SPSB2', 'score': 10.61}, {'connected_gene': 'RPL13P5', 'score': 10.57}, {'connected_gene': 'LRRC23', 'score': 10.57}, {'connected_gene': 'TPI1', 'score': 10.55}, {'connected_gene': 'USP5', 'score': 10.53}, {'connected_gene': 'ATN1', 'score': 0.44}, {'connected_gene': 'C12orf57', 'score': 0.39}]