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
ENST00000539642	[[55611157, 55611611], [55621921, 55622052], [55626064, 55626205], [55631464, 55631516], [55632809, 55633021], [55633935, 55634000], [55642896, 55643110], [55646995, 55647176], [55647483, 55647845]]	[[55621984, 55622052], [55626064, 55626205], [55631464, 55631516], [55632809, 55633021], [55633935, 55634000], [55642896, 55643110], [55646995, 55647176], [55647483, 55647630]]
ENST00000565367	[[55611157, 55611611], [55621921, 55622052], [55626064, 55626205], [55631464, 55631516], [55632809, 55633021], [55633935, 55634000], [55642896, 55643110], [55646995, 55647176], [55647483, 55647845]]	[[55611448, 55611611], [55621921, 55622052], [55626064, 55626175]]
ENST00000164305	[[55611157, 55611611], [55612472, 55612608], [55613470, 55613588], [55619728, 55619833], [55621921, 55622052], [55626064, 55626205], [55631464, 55631516], [55632809, 55633021], [55633935, 55634000], [55642896, 55643110], [55646995, 55647176], [55647483, 55647846]]	[[55611448, 55611611], [55612472, 55612608], [55613470, 55613588], [55619728, 55619833], [55621921, 55622052], [55626064, 55626205], [55631464, 55631516], [55632809, 55633021], [55633935, 55634000], [55642896, 55643110], [55646995, 55647176], [55647483, 55647630]]
ENST00000569909	[[55611429, 55611611], [55611831, 55612228]]	None
ENST00000570059	[[55611429, 55611611], [55619728, 55619833], [55621921, 55622052], [55626064, 55626205], [55631464, 55631487]]	[[55611448, 55611611], [55619728, 55619742]]
ENST00000566999	[[55611442, 55611611], [55612472, 55612608], [55613497, 55613588], [55619728, 55619833], [55621921, 55622052], [55626064, 55626205]]	[[55611448, 55611611], [55612472, 55612608], [55613497, 55613588], [55619728, 55619833], [55621921, 55622052], [55626064, 55626205]]
ENST00000566072	[[55611470, 55611611], [55612472, 55612608], [55613470, 55613588], [55616977, 55617032], [55619728, 55619833]]	None
ENST00000565402	[[55632570, 55633021], [55633935, 55634000], [55642896, 55643028]]	None
ENST00000565502	[[55632950, 55633021], [55633935, 55634000], [55642896, 55643001], [55646995, 55647176], [55647483, 55647842]]	[[55632950, 55633021], [55633935, 55634000], [55642896, 55643001], [55646995, 55647021]]
ENST00000563742	[[55641716, 55643110], [55646995, 55647176], [55647483, 55647845]]	None
ENST00000569823	[[55642938, 55643110], [55643788, 55644071]]	None
ENST00000562751	[[55646782, 55647176], [55647483, 55647842]]	None
NM_004855	[[55611132, 55611611], [55612472, 55612608], [55613470, 55613588], [55619728, 55619833], [55621921, 55622052], [55626064, 55626205], [55631464, 55631516], [55632809, 55633021], [55633935, 55634000], [55642896, 55643110], [55646995, 55647176], [55647483, 55647846]]	[[55611448, 55611611], [55612472, 55612608], [55613470, 55613588], [55619728, 55619833], [55621921, 55622052], [55626064, 55626205], [55631464, 55631516], [55632809, 55633021], [55633935, 55634000], [55642896, 55643110], [55646995, 55647176], [55647483, 55647630]]

Promoter

Chrom	Start	End	Description
chr15	55611128	55611179	CAGE_peak_2_at_PIGB_5end
chr15	55611198	55611219	CAGE_peak_5_at_PIGB_5end
chr15	55611401	55611450	CAGE_peak_1_at_PIGB_5end
chr15	55611565	55611576	CAGE_peak_7_at_PIGB_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr15	GH15I055265	55265250	55269805	1.41	[{'connected_gene': 'PIGB', 'score': 16.86}, {'connected_gene': 'RAB27A', 'score': 9.22}, {'connected_gene': 'DNAAF4', 'score': 6.42}, {'connected_gene': 'GC15P055286', 'score': 0.37}, {'connected_gene': 'GC15M057438', 'score': 0.26}]
chr15	GH15I055275	55275977	55286361	1.67	[{'connected_gene': 'PIGB', 'score': 33.07}, {'connected_gene': 'RSL24D1', 'score': 11.23}, {'connected_gene': 'RAB27A', 'score': 8.4}, {'connected_gene': 'GC15P055286', 'score': 0.77}, {'connected_gene': 'GC15M057438', 'score': 0.22}]
chr15	GH15I055273	55273274	55274792	0.31	[{'connected_gene': 'PIGB', 'score': 13.07}, {'connected_gene': 'RSL24D1', 'score': 11.24}, {'connected_gene': 'GC15P055286', 'score': 0.39}, {'connected_gene': 'RAB27A', 'score': 0.25}, {'connected_gene': 'GC15M057438', 'score': 0.23}]
chr15	GH15I055317	55317728	55320776	2.08	[{'connected_gene': 'PIGB', 'score': 606.56}, {'connected_gene': 'PIGBOS1', 'score': 569.61}, {'connected_gene': 'RAB27A', 'score': 550.77}, {'connected_gene': 'RFX7', 'score': 10.77}, {'connected_gene': 'DNAAF4', 'score': 6.55}, {'connected_gene': 'ENSG00000274765', 'score': 0.34}]
chr15	GH15I055322	55322401	55323400	0.46	[{'connected_gene': 'PIGB', 'score': 34.56}, {'connected_gene': 'PIGBOS1', 'score': 0.77}, {'connected_gene': 'ENSG00000274765', 'score': 0.34}]
chr15	GH15I055324	55324135	55324312	0.2	[{'connected_gene': 'PIGB', 'score': 0.44}, {'connected_gene': 'PIGBOS1', 'score': 0.44}, {'connected_gene': 'ENSG00000274765', 'score': 0.37}]
chr15	GH15I055288	55288097	55291177	2.49	[{'connected_gene': 'RAB27A', 'score': 566.34}, {'connected_gene': 'ENSG00000276533', 'score': 550.77}, {'connected_gene': 'PIGB', 'score': 21.29}, {'connected_gene': 'RFX7', 'score': 10.77}, {'connected_gene': 'PIGBOS1', 'score': 10.69}, {'connected_gene': 'DNAAF4', 'score': 9.22}, {'connected_gene': 'CCPG1', 'score': 2.88}, {'connected_gene': 'PIR62136', 'score': 0.34}]
chr15	GH15I055211	55211704	55212020	0.24	[{'connected_gene': 'RAB27A', 'score': 10.89}, {'connected_gene': 'PIGB', 'score': 3.13}, {'connected_gene': 'GC15M057438', 'score': 0.39}, {'connected_gene': 'RSL24D1', 'score': 0.39}]
chr15	GH15I055248	55248602	55254343	1.53	[{'connected_gene': 'RAB27A', 'score': 13.57}, {'connected_gene': 'RSL24D1', 'score': 11.24}, {'connected_gene': 'PIGB', 'score': 6.24}, {'connected_gene': 'PYGO1', 'score': 4.77}, {'connected_gene': 'CCPG1', 'score': 4.24}, {'connected_gene': 'GC15M057438', 'score': 0.31}, {'connected_gene': 'GC15P055286', 'score': 0.29}]
chr15	GH15I055257	55257563	55258600	0.4	[{'connected_gene': 'RSL24D1', 'score': 10.75}, {'connected_gene': 'PIGB', 'score': 8.85}, {'connected_gene': 'GC15P055286', 'score': 0.31}, {'connected_gene': 'GC15M057438', 'score': 0.29}, {'connected_gene': 'RAB27A', 'score': 0.21}]
chr15	GH15I055194	55194906	55198317	1.83	[{'connected_gene': 'RSL24D1', 'score': 559.81}, {'connected_gene': 'PIGB', 'score': 24.14}, {'connected_gene': 'PIGBOS1', 'score': 10.26}, {'connected_gene': 'RAB27A', 'score': 10.02}, {'connected_gene': 'C15orf65', 'score': 4.2}, {'connected_gene': 'ENSG00000279145', 'score': 0.37}, {'connected_gene': 'GC15M057438', 'score': 0.31}]
chr15	GH15I055990	55990872	55995263	2.18	[{'connected_gene': 'NEDD4', 'score': 558.97}, {'connected_gene': 'PRTG', 'score': 12.49}, {'connected_gene': 'PIGBOS1', 'score': 10.61}, {'connected_gene': 'PIGB', 'score': 10.24}, {'connected_gene': 'CNOT6LP1', 'score': 7.9}, {'connected_gene': 'GC15P055749', 'score': 0.07}]
chr15	GH15I055941	55941617	55943839	0.51	[{'connected_gene': 'PRTG', 'score': 8.37}, {'connected_gene': 'NEDD4', 'score': 6.7}, {'connected_gene': 'PIGB', 'score': 4.08}, {'connected_gene': 'GC15P055749', 'score': 0.08}]
chr15	GH15I055497	55497600	55499140	1.92	[{'connected_gene': 'DNAAF4', 'score': 556.74}, {'connected_gene': 'DNAAF4-CCPG1', 'score': 550.77}, {'connected_gene': 'RSL24D1', 'score': 13.48}, {'connected_gene': 'PYGO1', 'score': 11.65}, {'connected_gene': 'C15orf65', 'score': 10.38}, {'connected_gene': 'PIGB', 'score': 9.63}, {'connected_gene': 'LOC100420711', 'score': 0.22}]
chr15	GH15I055388	55388595	55389941	0.54	[{'connected_gene': 'C15orf65', 'score': 9.82}, {'connected_gene': 'PIGB', 'score': 5.45}, {'connected_gene': 'GC15M057427', 'score': 0.44}, {'connected_gene': 'MIR628', 'score': 0.37}, {'connected_gene': 'CCPG1', 'score': 0.37}, {'connected_gene': 'DNAAF4-CCPG1', 'score': 0.14}]
chr15	GH15I055401	55401729	55409389	2.1	[{'connected_gene': 'C15orf65', 'score': 560.67}, {'connected_gene': 'CCPG1', 'score': 550.77}, {'connected_gene': 'RSL24D1', 'score': 23.81}, {'connected_gene': 'NEDD4', 'score': 11.87}, {'connected_gene': 'PYGO1', 'score': 11.58}, {'connected_gene': 'DNAAF4', 'score': 11.28}, {'connected_gene': 'PIGBOS1', 'score': 10.62}, {'connected_gene': 'PIGB', 'score': 7.14}, {'connected_gene': 'GC15M057427', 'score': 0.44}, {'connected_gene': 'DNAAF4-CCPG1', 'score': 0.16}]
chr15	GH15I055286	55286401	55287200	1.04	[{'connected_gene': 'GC15P055286', 'score': 550.77}, {'connected_gene': 'PIGB', 'score': 4.59}, {'connected_gene': 'ENSG00000276533', 'score': 0.77}, {'connected_gene': 'RAB27A', 'score': 0.29}]
chr15	GH15I055344	55344363	55344512	0.31	[{'connected_gene': 'ENSG00000274765', 'score': 550.77}, {'connected_gene': 'MIR628', 'score': 11.95}, {'connected_gene': 'ENSG00000277548', 'score': 0.77}, {'connected_gene': 'PIGB', 'score': 0.31}, {'connected_gene': 'CCPG1', 'score': 0.21}]
chr15	GH15I055396	55396659	55397557	0.87	[{'connected_gene': 'GC15M057427', 'score': 550.77}, {'connected_gene': 'MIR628', 'score': 13.11}, {'connected_gene': 'C15orf65', 'score': 10.86}, {'connected_gene': 'PIGB', 'score': 7.05}, {'connected_gene': 'DNAAF4', 'score': 6.32}, {'connected_gene': 'CCPG1', 'score': 0.39}, {'connected_gene': 'DNAAF4-CCPG1', 'score': 0.15}]
chr15	GH15I055220	55220175	55223539	1.6	[{'connected_gene': 'GC15M057438', 'score': 550.77}, {'connected_gene': 'RAB27A', 'score': 21.56}, {'connected_gene': 'PIGB', 'score': 9.62}, {'connected_gene': 'CCPG1', 'score': 5.99}, {'connected_gene': 'RSL24D1', 'score': 0.34}]