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
ENST00000472234	[[133794022, 133794057], [133894452, 133894612], [133894773, 133894883], [133896784, 133896917], [133901845, 133901877]]	[[133794022, 133794057], [133894452, 133894612], [133894773, 133894883], [133896784, 133896917], [133901845, 133901877]]
ENST00000460933	[[133875976, 133877108], [133878080, 133878217], [133894452, 133894612], [133894773, 133894883], [133896784, 133896917], [133901845, 133901915], [133907680, 133907767], [133910692, 133910818], [133913925, 133914026], [133921573, 133921718], [133926315, 133926369], [133928538, 133928673], [133930351, 133930451], [133941261, 133941383], [133969266, 133969437]]	[[133876996, 133877108], [133878080, 133878217], [133894452, 133894612], [133894773, 133894883], [133896784, 133896917], [133901845, 133901915], [133907680, 133907767], [133910692, 133910818], [133913925, 133914026], [133921573, 133921718], [133926315, 133926369], [133928538, 133928673], [133930351, 133930451], [133941261, 133941383], [133969266, 133969437]]
ENST00000296084	[[133875977, 133877108], [133878080, 133878217], [133894452, 133894612], [133894773, 133894883], [133896784, 133896917], [133901845, 133901915], [133907680, 133907767], [133910692, 133910827], [133913925, 133914026], [133921573, 133921718], [133926315, 133926369], [133928538, 133928673], [133930351, 133930451], [133941261, 133941383], [133969266, 133969435], [133969437, 133969494]]	[[133876996, 133877108], [133878080, 133878217], [133894452, 133894612], [133894773, 133894883], [133896784, 133896917], [133901845, 133901915], [133907680, 133907767], [133910692, 133910827], [133913925, 133914026], [133921573, 133921718], [133926315, 133926369], [133928538, 133928673], [133930351, 133930451], [133941261, 133941383], [133969266, 133969435], [133969437, 133969494]]
ENST00000427044	[[133875977, 133877108], [133878080, 133878217], [133894452, 133894612], [133894773, 133894883], [133896784, 133896917], [133901845, 133901915], [133907680, 133907767], [133910692, 133910827], [133913925, 133914026], [133921573, 133921718], [133926315, 133926369], [133928538, 133928673], [133930351, 133930451], [133941261, 133941383], [133969266, 133969499], [133969655, 133969689]]	[[133876996, 133877108], [133878080, 133878217], [133894452, 133894612], [133894773, 133894883], [133896784, 133896917], [133901845, 133901915], [133907680, 133907767], [133910692, 133910827], [133913925, 133914026], [133921573, 133921718], [133926315, 133926369], [133928538, 133928551]]
ENST00000484106	[[133784146, 133784634], [133784799, 133784955], [133793878, 133794057]]	None
ENST00000473208	[[133875977, 133877108], [133878080, 133878217], [133894452, 133894612], [133894773, 133894883], [133896784, 133900516]]	None
ENST00000486725	[[133878126, 133878217], [133894452, 133894612], [133894773, 133894883], [133901845, 133901915], [133907680, 133907767], [133910692, 133910760]]	[[133894828, 133894883], [133901845, 133901915], [133907680, 133907767], [133910692, 133910760]]
ENST00000481382	[[133894546, 133894612], [133894773, 133894883], [133901845, 133902247]]	None
ENST00000480381	[[133901845, 133901915], [133907680, 133907767], [133910692, 133910818], [133913925, 133914183]]	None
ENST00000464879	[[133921380, 133921718], [133926315, 133926369]]	None
NM_001005861	[[133875977, 133877108], [133878080, 133878217], [133894452, 133894612], [133894773, 133894883], [133896784, 133896917], [133901845, 133901915], [133907680, 133907767], [133910692, 133910827], [133913925, 133914026], [133921573, 133921718], [133926315, 133926369], [133928538, 133928673], [133930351, 133930451], [133941261, 133941383], [133969266, 133969437], [133969439, 133969487], [133969489, 133969586]]	[[133876996, 133877108], [133878080, 133878217], [133894452, 133894612], [133894773, 133894883], [133896784, 133896917], [133901845, 133901915], [133907680, 133907767], [133910692, 133910827], [133913925, 133914026], [133921573, 133921718], [133926315, 133926369], [133928538, 133928673], [133930351, 133930451], [133941261, 133941383], [133969266, 133969437], [133969439, 133969487], [133969489, 133969496]]
NM_002958	[[133875977, 133877108], [133878080, 133878217], [133894452, 133894612], [133894773, 133894883], [133896784, 133896917], [133901845, 133901915], [133907680, 133907767], [133910692, 133910818], [133913925, 133914026], [133921573, 133921718], [133926315, 133926369], [133928538, 133928673], [133930351, 133930451], [133941261, 133941383], [133969266, 133969437], [133969439, 133969487], [133969489, 133969586]]	[[133876996, 133877108], [133878080, 133878217], [133894452, 133894612], [133894773, 133894883], [133896784, 133896917], [133901845, 133901915], [133907680, 133907767], [133910692, 133910818], [133913925, 133914026], [133921573, 133921718], [133926315, 133926369], [133928538, 133928673], [133930351, 133930451], [133941261, 133941383], [133969266, 133969437], [133969439, 133969487], [133969489, 133969496]]

Promoter

Chrom	Start	End	Description
chr3	133969629	133969670	CAGE_peak_2_at_RYK_5end
chr3	133969673	133969735	CAGE_peak_1_at_RYK_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I134241	134241648	134243433	0.95	[{'connected_gene': 'CEP63', 'score': 10.17}, {'connected_gene': 'ANAPC13', 'score': 10.17}, {'connected_gene': 'RYK', 'score': 0.44}, {'connected_gene': 'GC03P134171', 'score': 0.19}]
chr3	GH03I134200	134200541	134202891	0.72	[{'connected_gene': 'C3orf36', 'score': 11.09}, {'connected_gene': 'RYK', 'score': 8.16}, {'connected_gene': 'GC03P134171', 'score': 0.29}]
chr3	GH03I134235	134235801	134236800	0.66	[{'connected_gene': 'C3orf36', 'score': 9.35}, {'connected_gene': 'RYK', 'score': 0.39}, {'connected_gene': 'GC03P134171', 'score': 0.2}]
chr3	GH03I134238	134238401	134240000	0.52	[{'connected_gene': 'C3orf36', 'score': 9.35}, {'connected_gene': 'RYK', 'score': 0.39}, {'connected_gene': 'GC03P134171', 'score': 0.2}]
chr3	GH03I134083	134083683	134085842	0.2	[{'connected_gene': 'SLCO2A1', 'score': 11.83}, {'connected_gene': 'C3orf36', 'score': 9.78}, {'connected_gene': 'RYK', 'score': 4.45}, {'connected_gene': 'LOC105374117', 'score': 0.37}, {'connected_gene': 'GC03M134152', 'score': 0.2}]
chr3	GH03I134077	134077901	134079566	0.57	[{'connected_gene': 'SLCO2A1', 'score': 12.27}, {'connected_gene': 'C3orf36', 'score': 9.92}, {'connected_gene': 'LOC105374117', 'score': 0.44}, {'connected_gene': 'GC03M134152', 'score': 0.18}, {'connected_gene': 'RYK', 'score': 0.09}]
chr3	GH03I134161	134161917	134162046	0.49	[{'connected_gene': 'SLCO2A1', 'score': 10.87}, {'connected_gene': 'C3orf36', 'score': 10.22}, {'connected_gene': 'GC03M134152', 'score': 0.44}, {'connected_gene': 'HMGB3P14', 'score': 0.44}, {'connected_gene': 'RYK', 'score': 0.17}]
chr3	GH03I134091	134091682	134095430	1	[{'connected_gene': 'SLCO2A1', 'score': 13.0}, {'connected_gene': 'RYK', 'score': 6.72}, {'connected_gene': 'LOC105374117', 'score': 0.34}, {'connected_gene': 'GC03M134152', 'score': 0.21}]
chr3	GH03I134090	134090183	134090306	0.2	[{'connected_gene': 'SLCO2A1', 'score': 11.64}, {'connected_gene': 'LOC105374117', 'score': 0.34}, {'connected_gene': 'GC03M134152', 'score': 0.21}, {'connected_gene': 'RYK', 'score': 0.1}]
chr3	GH03I134248	134248979	134253492	2.18	[{'connected_gene': 'RYK', 'score': 559.81}, {'connected_gene': 'C3orf36', 'score': 10.19}, {'connected_gene': 'LINC02004', 'score': 0.21}]
chr3	GH03I134212	134212997	134213206	0.72	[{'connected_gene': 'RYK', 'score': 11.75}, {'connected_gene': 'C3orf36', 'score': 11.28}, {'connected_gene': 'GC03P134171', 'score': 0.26}]
chr3	GH03I134225	134224401	134224600	0.75	[{'connected_gene': 'RYK', 'score': 23.42}, {'connected_gene': 'TOPBP1', 'score': 15.92}, {'connected_gene': 'C3orf36', 'score': 10.49}, {'connected_gene': 'GC03P134171', 'score': 0.23}]
chr3	GH03I134224	134224617	134224626	0.72	[{'connected_gene': 'RYK', 'score': 23.42}, {'connected_gene': 'TOPBP1', 'score': 15.92}, {'connected_gene': 'C3orf36', 'score': 10.49}, {'connected_gene': 'GC03P134171', 'score': 0.23}]
chr3	GH03I134290	134290979	134292648	0.89	[{'connected_gene': 'RYK', 'score': 18.75}, {'connected_gene': 'LINC02004', 'score': 0.34}]
chr3	GH03I134260	134260812	134261788	0.6	[{'connected_gene': 'RYK', 'score': 9.63}, {'connected_gene': 'LINC02004', 'score': 0.23}]
chr3	GH03I134244	134244401	134244600	0.38	[{'connected_gene': 'RYK', 'score': 0.44}, {'connected_gene': 'GC03P134171', 'score': 0.19}]
chr3	GH03I134245	134245601	134245800	0.2	[{'connected_gene': 'RYK', 'score': 0.44}, {'connected_gene': 'GC03P134171', 'score': 0.18}]
chr3	GH03I134299	134299401	134299801	0.52	[{'connected_gene': 'AMOTL2', 'score': 11.23}, {'connected_gene': 'CEP63', 'score': 11.12}, {'connected_gene': 'ANAPC13', 'score': 11.12}, {'connected_gene': 'RYK', 'score': 10.6}, {'connected_gene': 'ENSG00000260633', 'score': 4.85}, {'connected_gene': 'LINC02004', 'score': 0.39}]
chr3	GH03I134347	134347217	134376466	2.71	[{'connected_gene': 'AMOTL2', 'score': 553.54}, {'connected_gene': 'ENSG00000260633', 'score': 60.85}, {'connected_gene': 'RYK', 'score': 24.55}, {'connected_gene': 'TOPBP1', 'score': 10.59}, {'connected_gene': 'TFP1', 'score': 10.24}, {'connected_gene': 'RAB6B', 'score': 5.04}, {'connected_gene': 'RPL39P5', 'score': 0.44}, {'connected_gene': 'MIR6827', 'score': 0.44}]
chr3	GH03I134376	134376504	134377145	0.63	[{'connected_gene': 'AMOTL2', 'score': 550.77}, {'connected_gene': 'GC03P134378', 'score': 550.77}, {'connected_gene': 'RYK', 'score': 9.93}, {'connected_gene': 'ENSG00000260633', 'score': 9.54}]
chr3	GH03I134482	134482220	134488247	2.49	[{'connected_gene': 'ANAPC13', 'score': 624.43}, {'connected_gene': 'CEP63', 'score': 583.07}, {'connected_gene': 'TOPBP1', 'score': 20.59}, {'connected_gene': 'RYK', 'score': 12.27}, {'connected_gene': 'MIR4788', 'score': 0.25}]
chr3	GH03I134471	134471233	134474648	1.09	[{'connected_gene': 'ANAPC13', 'score': 67.08}, {'connected_gene': 'RYK', 'score': 10.25}, {'connected_gene': 'CEP63', 'score': 0.39}, {'connected_gene': 'MIR4788', 'score': 0.28}]
chr3	GH03I134496	134496167	134496990	1.13	[{'connected_gene': 'ANAPC13', 'score': 65.12}, {'connected_gene': 'RYK', 'score': 13.02}, {'connected_gene': 'SLCO2A1', 'score': 4.76}, {'connected_gene': 'LOC100421154', 'score': 0.39}, {'connected_gene': 'CEP63', 'score': 0.39}]
chr3	GH03I134795	134795000	134796531	2	[{'connected_gene': 'EPHB1', 'score': 550.08}, {'connected_gene': 'RYK', 'score': 38.32}, {'connected_gene': 'HMGB3P14', 'score': 10.04}, {'connected_gene': 'RPL39P5', 'score': 10.04}, {'connected_gene': 'RNA5SP141', 'score': 0.39}, {'connected_gene': 'PIR60355', 'score': 0.34}]
chr3	GH03I134294	134294399	134294548	0.72	[{'connected_gene': 'LINC02004', 'score': 0.37}, {'connected_gene': 'RYK', 'score': 0.26}]
chr3	GH03I134070	134070601	134071962	0.38	[{'connected_gene': 'LOC105374117', 'score': 0.77}, {'connected_gene': 'GC03M134152', 'score': 0.18}, {'connected_gene': 'RYK', 'score': 0.1}]
chr3	GH03I134065	134065923	134067872	0.72	[{'connected_gene': 'LOC105374117', 'score': 0.77}, {'connected_gene': 'LINC02000', 'score': 0.44}, {'connected_gene': 'RYK', 'score': 0.09}]
chr3	GH03I134056	134056583	134058679	0.75	[{'connected_gene': 'LINC02000', 'score': 550.77}, {'connected_gene': 'RYK', 'score': 12.28}, {'connected_gene': 'TFP1', 'score': 10.27}, {'connected_gene': 'TOPBP1', 'score': 10.24}, {'connected_gene': 'SLCO2A1', 'score': 0.44}]
chr3	GH03I134377	134377355	134377736	0.43	[{'connected_gene': 'GC03P134378', 'score': 550.77}, {'connected_gene': 'ENSG00000260633', 'score': 22.61}, {'connected_gene': 'RYK', 'score': 9.93}, {'connected_gene': 'AMOTL2', 'score': 0.77}]
chr3	GH03I134378	134378499	134378648	0.89	[{'connected_gene': 'GC03P134378', 'score': 550.77}, {'connected_gene': 'RYK', 'score': 9.93}, {'connected_gene': 'AMOTL2', 'score': 0.77}]
chr3	GH03I134197	134197817	134197926	0.64	[{'connected_gene': 'GC03P134171', 'score': 0.31}, {'connected_gene': 'RYK', 'score': 0.23}]
chr3	GH03I134380	134380294	134383049	0.86	[{'connected_gene': 'ENSG00000260633', 'score': 15.49}, {'connected_gene': 'ANAPC13', 'score': 15.29}, {'connected_gene': 'CEP63', 'score': 10.21}, {'connected_gene': 'RYK', 'score': 10.11}, {'connected_gene': 'GC03P134378', 'score': 0.77}, {'connected_gene': 'HMGN1P9', 'score': 0.77}]