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
ENST00000373555	[[127640645, 127642889], [127643449, 127643536], [127644062, 127644233], [127644788, 127644848], [127650531, 127650675], [127651421, 127651582], [127651712, 127651815], [127652667, 127652757], [127660827, 127660923], [127661607, 127661757], [127662730, 127662826], [127670655, 127670751], [127674179, 127674305], [127683407, 127683519], [127684001, 127684171], [127685373, 127685502], [127688987, 127689020], [127690466, 127690564], [127691494, 127691569], [127693594, 127693685], [127700855, 127701145], [127702384, 127702434], [127703249, 127703378]]	[[127642808, 127642889], [127643449, 127643536], [127644062, 127644233], [127644788, 127644848], [127650531, 127650675], [127651421, 127651582], [127651712, 127651815], [127652667, 127652757], [127660827, 127660923], [127661607, 127661757], [127662730, 127662826], [127670655, 127670751], [127674179, 127674305], [127683407, 127683519], [127684001, 127684171], [127685373, 127685502], [127688987, 127689020], [127690466, 127690564], [127691494, 127691569], [127693594, 127693685], [127700855, 127700990]]
ENST00000475407	[[127640656, 127642889], [127643449, 127643536], [127644062, 127644233], [127644788, 127644848], [127650531, 127650675], [127651421, 127651582], [127651712, 127651815], [127652667, 127652757], [127660827, 127660923], [127661607, 127661757], [127662730, 127662826], [127670655, 127670751], [127674179, 127674305], [127683990, 127684171], [127685373, 127685502], [127688987, 127689020], [127690466, 127690564], [127691494, 127691547]]	[[127674294, 127674305], [127683990, 127684171], [127685373, 127685502], [127688987, 127689020], [127690466, 127690564], [127691494, 127691547]]
ENST00000485337	[[127651457, 127651582], [127651712, 127651815], [127652667, 127652757], [127660827, 127660923], [127661607, 127661712], [127662803, 127662826], [127670655, 127670751], [127674179, 127674305], [127683407, 127683519], [127684001, 127684060]]	[[127661672, 127661712], [127662803, 127662826], [127670655, 127670751], [127674179, 127674305], [127683407, 127683519], [127684001, 127684060]]
ENST00000373551	[[127662419, 127662826], [127670655, 127670751], [127674179, 127674198]]	None
ENST00000421514	[[127690527, 127690564], [127691494, 127691569], [127693594, 127693685], [127700855, 127701145], [127710196, 127710292]]	[[127690527, 127690564], [127691494, 127691569], [127693594, 127693685], [127700855, 127700990]]
ENST00000605438	[[127709885, 127710771]]	None
NM_002077	[[127640572, 127642889], [127643449, 127643536], [127644062, 127644233], [127644788, 127644848], [127650531, 127650675], [127651421, 127651582], [127651712, 127651815], [127652667, 127652757], [127660827, 127660923], [127661607, 127661757], [127662730, 127662826], [127670655, 127670751], [127674179, 127674305], [127683407, 127683519], [127684001, 127684171], [127685373, 127685502], [127688987, 127689020], [127690466, 127690564], [127691494, 127691569], [127693594, 127693685], [127700855, 127701145], [127702384, 127702434], [127703249, 127703386]]	[[127642808, 127642889], [127643449, 127643536], [127644062, 127644233], [127644788, 127644848], [127650531, 127650675], [127651421, 127651582], [127651712, 127651815], [127652667, 127652757], [127660827, 127660923], [127661607, 127661757], [127662730, 127662826], [127670655, 127670751], [127674179, 127674305], [127683407, 127683519], [127684001, 127684171], [127685373, 127685502], [127688987, 127689020], [127690466, 127690564], [127691494, 127691569], [127693594, 127693685], [127700855, 127700990]]

Promoter

Chrom	Start	End	Description
chr9	127703232	127703299	CAGE_peak_1_at_GOLGA1_5end
chr9	127703333	127703398	CAGE_peak_2_at_GOLGA1_5end
chr9	127710300	127710324	CAGE_peak_5_at_GOLGA1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I124880	124880928	124881759	0.31	[{'connected_gene': 'ARPC5L', 'score': 13.02}, {'connected_gene': 'WDR38', 'score': 12.15}, {'connected_gene': 'OLFML2A', 'score': 11.68}, {'connected_gene': 'GOLGA1', 'score': 10.51}, {'connected_gene': 'PPP6C', 'score': 4.35}, {'connected_gene': 'RNU4-82P', 'score': 0.44}, {'connected_gene': 'GC09M124888', 'score': 0.44}]
chr9	GH09I124866	124866720	124874711	2.25	[{'connected_gene': 'ARPC5L', 'score': 564.21}, {'connected_gene': 'GOLGA1', 'score': 14.44}, {'connected_gene': 'GAPVD1', 'score': 13.61}, {'connected_gene': 'PRPS1P2', 'score': 12.75}, {'connected_gene': 'NR6A1', 'score': 11.96}, {'connected_gene': 'ENSG00000236643', 'score': 11.95}, {'connected_gene': 'SCAI', 'score': 4.69}, {'connected_gene': 'RNU4-82P', 'score': 0.37}, {'connected_gene': 'GC09M124888', 'score': 0.37}]
chr9	GH09I124894	124894682	124894891	0.66	[{'connected_gene': 'ARPC5L', 'score': 12.24}, {'connected_gene': 'RPL35', 'score': 12.24}, {'connected_gene': 'WDR38', 'score': 12.21}, {'connected_gene': 'RABEPK', 'score': 10.45}, {'connected_gene': 'RPSAP76', 'score': 10.45}, {'connected_gene': 'GC09M124888', 'score': 0.44}, {'connected_gene': 'RNU4-82P', 'score': 0.44}, {'connected_gene': 'GC09P124941', 'score': 0.25}, {'connected_gene': 'GOLGA1', 'score': 0.23}]
chr9	GH09I124897	124897373	124898395	0.82	[{'connected_gene': 'ARPC5L', 'score': 26.77}, {'connected_gene': 'RPL35', 'score': 12.22}, {'connected_gene': 'WDR38', 'score': 12.21}, {'connected_gene': 'RPSAP76', 'score': 10.45}, {'connected_gene': 'RABEPK', 'score': 10.45}, {'connected_gene': 'GOLGA1', 'score': 8.57}, {'connected_gene': 'GC09M124888', 'score': 0.39}, {'connected_gene': 'RNU4-82P', 'score': 0.39}, {'connected_gene': 'GC09P124941', 'score': 0.26}]
chr9	GH09I124839	124839371	124841933	1.03	[{'connected_gene': 'ARPC5L', 'score': 23.88}, {'connected_gene': 'RPL35', 'score': 12.8}, {'connected_gene': 'GOLGA1', 'score': 7.42}, {'connected_gene': 'OLFML2A', 'score': 5.07}, {'connected_gene': 'WDR38', 'score': 0.39}, {'connected_gene': 'PIR55692', 'score': 0.29}]
chr9	GH09I124858	124858023	124864492	2.25	[{'connected_gene': 'ARPC5L', 'score': 565.01}, {'connected_gene': 'RPL35', 'score': 550.77}, {'connected_gene': 'GAPVD1', 'score': 19.93}, {'connected_gene': 'GOLGA1', 'score': 16.89}, {'connected_gene': 'PRPS1P2', 'score': 13.73}, {'connected_gene': 'RABEPK', 'score': 6.29}, {'connected_gene': 'WDR38', 'score': 0.44}]
chr9	GH09I124414	124414041	124416091	2.28	[{'connected_gene': 'PSMB7', 'score': 560.8}, {'connected_gene': 'GAPVD1', 'score': 40.49}, {'connected_gene': 'GOLGA1', 'score': 30.84}, {'connected_gene': 'PRPS1P2', 'score': 11.81}, {'connected_gene': 'NEK6', 'score': 11.57}, {'connected_gene': 'GC09P124378', 'score': 0.28}]
chr9	GH09I125182	125182158	125182477	0.41	[{'connected_gene': 'PPP6C', 'score': 2.32}, {'connected_gene': 'GAPVD1', 'score': 1.85}, {'connected_gene': 'NR6A1', 'score': 1.33}, {'connected_gene': 'GOLGA1', 'score': 1.16}, {'connected_gene': 'NDUFB3P2', 'score': 0.77}]
chr9	GH09I125744	125744742	125749601	2.08	[{'connected_gene': 'PBX3', 'score': 565.38}, {'connected_gene': 'LOC51145', 'score': 550.77}, {'connected_gene': 'GOLGA1', 'score': 24.8}, {'connected_gene': 'GAPVD1', 'score': 24.15}, {'connected_gene': 'PRPS1P2', 'score': 12.71}, {'connected_gene': 'PPP6C', 'score': 4.54}]
chr9	GH09I124881	124880413	124880823	0.51	[{'connected_gene': 'WDR38', 'score': 12.15}, {'connected_gene': 'OLFML2A', 'score': 11.68}, {'connected_gene': 'GOLGA1', 'score': 10.38}, {'connected_gene': 'RNU4-82P', 'score': 0.44}, {'connected_gene': 'GC09M124888', 'score': 0.44}, {'connected_gene': 'ARPC5L', 'score': 0.37}]
chr9	GH09I124933	124933661	124935590	0.43	[{'connected_gene': 'SCAI', 'score': 11.12}, {'connected_gene': 'ARPC5L', 'score': 10.91}, {'connected_gene': 'RPL35', 'score': 10.91}, {'connected_gene': 'WDR38', 'score': 10.9}, {'connected_gene': 'PPP6C', 'score': 10.51}, {'connected_gene': 'GC09P124941', 'score': 0.44}, {'connected_gene': 'GOLGA1', 'score': 0.39}, {'connected_gene': 'GC09M124888', 'score': 0.25}, {'connected_gene': 'RNU4-82P', 'score': 0.25}]
chr9	GH09I125142	125142235	125144191	2.19	[{'connected_gene': 'SCAI', 'score': 550.77}, {'connected_gene': 'GAPVD1', 'score': 22.81}, {'connected_gene': 'RABEPK', 'score': 16.51}, {'connected_gene': 'GOLGA1', 'score': 12.4}, {'connected_gene': 'GC09P125105', 'score': 0.28}]
chr9	GH09I125909	125909586	125910723	1.1	[{'connected_gene': 'GOLGA1', 'score': 16.14}, {'connected_gene': 'GAPVD1', 'score': 15.47}, {'connected_gene': 'PRPS1P2', 'score': 15.33}, {'connected_gene': 'ZBTB34', 'score': 12.3}, {'connected_gene': 'GC09P125902', 'score': 0.44}, {'connected_gene': 'LOC105376273', 'score': 0.11}, {'connected_gene': 'PBX3', 'score': 0.1}]
chr9	GH09I124510	124510517	124513933	1.18	[{'connected_gene': 'GOLGA1', 'score': 12.22}, {'connected_gene': 'OLFML2A', 'score': 11.41}, {'connected_gene': 'GAPVD1', 'score': 10.75}, {'connected_gene': 'NR5A1', 'score': 0.77}, {'connected_gene': 'ENSG00000231149', 'score': 0.77}]
chr9	GH09I124018	124018742	124018911	0.57	[{'connected_gene': 'GOLGA1', 'score': 11.86}, {'connected_gene': 'ENSG00000231227', 'score': 0.44}, {'connected_gene': 'LOC105376268', 'score': 0.39}, {'connected_gene': 'LHX2', 'score': 0.37}]
chr9	GH09I124054	124054597	124055194	1.13	[{'connected_gene': 'GOLGA1', 'score': 18.51}, {'connected_gene': 'LOC105376268', 'score': 12.96}, {'connected_gene': 'ENSG00000231227', 'score': 10.97}, {'connected_gene': 'LOC100505588', 'score': 10.95}, {'connected_gene': 'LHX2', 'score': 10.94}, {'connected_gene': 'GC09M124203', 'score': 0.11}]
chr9	GH09I124040	124040601	124041723	1	[{'connected_gene': 'GOLGA1', 'score': 11.86}, {'connected_gene': 'LOC105376268', 'score': 0.44}, {'connected_gene': 'GC09M124203', 'score': 0.1}]
chr9	GH09I124242	124242166	124243653	1.05	[{'connected_gene': 'GOLGA1', 'score': 13.76}, {'connected_gene': 'PRPS1P2', 'score': 12.38}, {'connected_gene': 'GAPVD1', 'score': 10.52}, {'connected_gene': 'NEK6', 'score': 5.94}, {'connected_gene': 'GC09M124203', 'score': 0.28}]
chr9	GH09I125238	125238117	125244755	2.29	[{'connected_gene': 'GAPVD1', 'score': 589.95}, {'connected_gene': 'HSPA5', 'score': 550.77}, {'connected_gene': 'GC09M125241', 'score': 550.77}, {'connected_gene': 'ENSG00000239705', 'score': 550.77}, {'connected_gene': 'GOLGA1', 'score': 22.95}, {'connected_gene': 'PRPS1P2', 'score': 22.57}, {'connected_gene': 'RABEPK', 'score': 14.15}, {'connected_gene': 'RPL35', 'score': 9.67}, {'connected_gene': 'OLFML2A', 'score': 4.32}]
chr9	GH09I124499	124499745	124502291	0.68	[{'connected_gene': 'GAPVD1', 'score': 20.19}, {'connected_gene': 'GOLGA1', 'score': 12.23}, {'connected_gene': 'OLFML2A', 'score': 11.4}, {'connected_gene': 'NR5A1', 'score': 0.44}, {'connected_gene': 'LOC105376270', 'score': 0.25}]
chr9	GH09I125844	125844240	125846071	0.97	[{'connected_gene': 'GAPVD1', 'score': 13.53}, {'connected_gene': 'PRPS1P2', 'score': 13.47}, {'connected_gene': 'GOLGA1', 'score': 9.96}, {'connected_gene': 'ZBTB43', 'score': 4.36}, {'connected_gene': 'GC09P125856', 'score': 0.39}, {'connected_gene': 'GC09P125762', 'score': 0.18}, {'connected_gene': 'PBX3', 'score': 0.15}]
chr9	GH09I124776	124776902	124781071	2.25	[{'connected_gene': 'OLFML2A', 'score': 550.77}, {'connected_gene': 'SCAI', 'score': 4.28}, {'connected_gene': 'GOLGA1', 'score': 4.08}, {'connected_gene': 'PIR55692', 'score': 0.29}]
chr9	GH09I125407	125407601	125411372	1.49	[{'connected_gene': 'LOC101929014', 'score': 550.77}, {'connected_gene': 'GAPVD1', 'score': 43.64}, {'connected_gene': 'GOLGA1', 'score': 40.96}, {'connected_gene': 'PRPS1P2', 'score': 34.39}, {'connected_gene': 'LOC101929116', 'score': 11.68}, {'connected_gene': 'OLFML2A', 'score': 11.37}, {'connected_gene': 'PPP6C', 'score': 5.26}, {'connected_gene': 'PBX3', 'score': 4.44}, {'connected_gene': 'GC09P125397', 'score': 0.39}]
chr9	GH09I124964	124964134	124966571	1.1	[{'connected_gene': 'PRPS1P2', 'score': 15.59}, {'connected_gene': 'ARPC5L', 'score': 12.28}, {'connected_gene': 'GAPVD1', 'score': 9.81}, {'connected_gene': 'FXNP2', 'score': 0.77}, {'connected_gene': 'GC09M124947', 'score': 0.37}, {'connected_gene': 'GOLGA1', 'score': 0.37}, {'connected_gene': 'SCAI', 'score': 0.1}]
chr9	GH09I124960	124960232	124960661	0.31	[{'connected_gene': 'FXNP2', 'score': 0.44}, {'connected_gene': 'GC09M124947', 'score': 0.39}, {'connected_gene': 'GOLGA1', 'score': 0.39}, {'connected_gene': 'SCAI', 'score': 0.09}]
chr9	GH09I124656	124656870	124661912	1.76	[{'connected_gene': 'MIR181A2HG', 'score': 558.76}, {'connected_gene': 'PRPS1P2', 'score': 18.72}, {'connected_gene': 'MIR181B2', 'score': 11.5}, {'connected_gene': 'MIR181A2', 'score': 11.5}, {'connected_gene': 'GAPVD1', 'score': 11.34}, {'connected_gene': 'GOLGA1', 'score': 11.04}, {'connected_gene': 'PIR50063', 'score': 0.34}, {'connected_gene': 'NR6A1', 'score': 0.14}]
chr9	GH09I124939	124939808	124942809	2.07	[{'connected_gene': 'GC09P124941', 'score': 550.77}, {'connected_gene': 'GOLGA1', 'score': 550.44}, {'connected_gene': 'ARPC5L', 'score': 14.3}, {'connected_gene': 'SCAI', 'score': 10.67}, {'connected_gene': 'PPP6C', 'score': 9.92}, {'connected_gene': 'GAPVD1', 'score': 6.46}, {'connected_gene': 'GC09M124944', 'score': 0.77}]
chr9	GH09I124808	124808482	124814575	1.29	[{'connected_gene': 'PIR55692', 'score': 550.77}, {'connected_gene': 'GOLGA1', 'score': 17.45}, {'connected_gene': 'OLFML2A', 'score': 5.47}, {'connected_gene': 'WDR38', 'score': 0.26}]
chr9	GH09I124950	124950011	124950623	0.84	[{'connected_gene': 'GC09M124947', 'score': 550.77}, {'connected_gene': 'GOLGA1', 'score': 550.77}, {'connected_gene': 'FXNP2', 'score': 0.37}, {'connected_gene': 'SCAI', 'score': 0.08}]
chr9	GH09I124768	124768904	124772401	2.11	[{'connected_gene': 'ENSG00000236643', 'score': 550.77}, {'connected_gene': 'NR6A1', 'score': 550.77}, {'connected_gene': 'PRPS1P2', 'score': 39.61}, {'connected_gene': 'GAPVD1', 'score': 21.07}, {'connected_gene': 'GOLGA1', 'score': 20.18}, {'connected_gene': 'WDR38', 'score': 13.58}, {'connected_gene': 'ARPC5L', 'score': 13.56}, {'connected_gene': 'RPL35', 'score': 13.56}, {'connected_gene': 'MIR181A2HG', 'score': 7.75}]