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
ENST00000332281	[[88744089, 88745037], [88747501, 88748122], [88752738, 88752901]]	[[88744855, 88745037], [88747501, 88748122], [88752738, 88752814]]
NM_178310	[[88744089, 88745037], [88747501, 88748122], [88752738, 88752882]]	[[88744855, 88745037], [88747501, 88748122], [88752738, 88752814]]

Promoter

Chrom	Start	End	Description
chr16	88752836	88752852	CAGE_peak_3_at_SNAI3_5end
chr16	88752861	88752884	CAGE_peak_2_at_SNAI3_5end
chr16	88752889	88752921	CAGE_peak_1_at_SNAI3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I088779	88779426	88786087	2.56	[{'connected_gene': 'PIEZO1', 'score': 556.55}, {'connected_gene': 'APRT', 'score': 22.12}, {'connected_gene': 'ANKRD11', 'score': 21.7}, {'connected_gene': 'SNORD68', 'score': 12.56}, {'connected_gene': 'CDT1', 'score': 12.18}, {'connected_gene': 'GALNS', 'score': 11.31}, {'connected_gene': 'TRAPPC2L', 'score': 11.31}, {'connected_gene': 'ENSG00000259877', 'score': 11.3}, {'connected_gene': 'RPL13', 'score': 11.05}, {'connected_gene': 'CTU2', 'score': 10.89}, {'connected_gene': 'ZC3H18', 'score': 10.53}, {'connected_gene': 'ACSF3', 'score': 10.37}, {'connected_gene': 'CHMP1A', 'score': 10.19}, {'connected_gene': 'BANP', 'score': 9.84}, {'connected_gene': 'LINC00304', 'score': 9.73}, {'connected_gene': 'RNF166', 'score': 8.36}, {'connected_gene': 'ENSG00000260121', 'score': 6.84}, {'connected_gene': 'CYBA', 'score': 6.83}, {'connected_gene': 'CDK10', 'score': 6.78}, {'connected_gene': 'LOC100129697', 'score': 4.93}, {'connected_gene': 'SNAI3', 'score': 1.51}, {'connected_gene': 'LOC339059', 'score': 0.28}]
chr16	GH16I088680	88680707	88682719	1.08	[{'connected_gene': 'PIEZO1', 'score': 5.79}, {'connected_gene': 'SNAI3', 'score': 0.77}, {'connected_gene': 'SNAI3-AS1', 'score': 0.37}]
chr16	GH16I088801	88801397	88808082	2.23	[{'connected_gene': 'CDT1', 'score': 550.77}, {'connected_gene': 'GALNS', 'score': 12.16}, {'connected_gene': 'APRT', 'score': 10.26}, {'connected_gene': 'RNF166', 'score': 5.66}, {'connected_gene': 'SNAI3', 'score': 5.18}, {'connected_gene': 'CDH15', 'score': 4.53}, {'connected_gene': 'PIR39293', 'score': 0.77}]
chr16	GH16I088853	88853249	88853636	0.38	[{'connected_gene': 'APRT', 'score': 12.28}, {'connected_gene': 'CDT1', 'score': 12.25}, {'connected_gene': 'RNF166', 'score': 1.84}, {'connected_gene': 'CBFA2T3', 'score': 1.59}, {'connected_gene': 'SNAI3', 'score': 1.24}, {'connected_gene': 'GALNS', 'score': 0.77}, {'connected_gene': 'TRAPPC2L', 'score': 0.77}, {'connected_gene': 'PIR42461', 'score': 0.31}]
chr16	GH16I088199	88199197	88201423	0.31	[{'connected_gene': 'SNAI3', 'score': 4.54}, {'connected_gene': 'LINC02182', 'score': 0.44}, {'connected_gene': 'ZNF469', 'score': 0.29}]
chr16	GH16I089313	89313322	89327885	2.44	[{'connected_gene': 'ANKRD11', 'score': 556.99}, {'connected_gene': 'LOC100287036', 'score': 556.62}, {'connected_gene': 'ZC3H18', 'score': 10.4}, {'connected_gene': 'CDK10', 'score': 8.76}, {'connected_gene': 'DBNDD1', 'score': 7.22}, {'connected_gene': 'ZNF276', 'score': 7.15}, {'connected_gene': 'SPG7', 'score': 6.54}, {'connected_gene': 'SNAI3', 'score': 5.95}, {'connected_gene': 'GAS8-AS1', 'score': 5.54}, {'connected_gene': 'TUBB3', 'score': 4.69}, {'connected_gene': 'RPL13', 'score': 4.59}, {'connected_gene': 'SLC22A31', 'score': 4.57}, {'connected_gene': 'SPATA2L', 'score': 2.35}, {'connected_gene': 'ZNF778', 'score': 2.13}, {'connected_gene': 'VPS9D1', 'score': 1.77}, {'connected_gene': 'ENSG00000260279', 'score': 0.34}]
chr16	GH16I088854	88854323	88858502	2.25	[{'connected_gene': 'GALNS', 'score': 560.34}, {'connected_gene': 'TRAPPC2L', 'score': 550.77}, {'connected_gene': 'APRT', 'score': 12.28}, {'connected_gene': 'CDT1', 'score': 12.25}, {'connected_gene': 'CYBA', 'score': 7.23}, {'connected_gene': 'RNF166', 'score': 5.99}, {'connected_gene': 'ZC3H18', 'score': 2.11}, {'connected_gene': 'SNAI3', 'score': 1.76}, {'connected_gene': 'CBFA2T3', 'score': 1.64}]
chr16	GH16I089112	89112781	89124096	1.68	[{'connected_gene': 'ACSF3', 'score': 38.68}, {'connected_gene': 'TRAPPC2L', 'score': 12.15}, {'connected_gene': 'GALNS', 'score': 12.15}, {'connected_gene': 'RNF166', 'score': 8.81}, {'connected_gene': 'TUBB3', 'score': 7.43}, {'connected_gene': 'CYBA', 'score': 6.44}, {'connected_gene': 'SNAI3', 'score': 5.89}, {'connected_gene': 'ENSG00000259877', 'score': 5.83}, {'connected_gene': 'ENSG00000260279', 'score': 5.23}, {'connected_gene': 'SLC22A31', 'score': 5.21}, {'connected_gene': 'RPL13', 'score': 2.87}, {'connected_gene': 'CBFA2T3', 'score': 2.72}, {'connected_gene': 'ENSG00000261546', 'score': 0.77}, {'connected_gene': 'GC16P089147', 'score': 0.31}]
chr16	GH16I088665	88665213	88665382	0.57	[{'connected_gene': 'SNAI3-AS1', 'score': 550.77}, {'connected_gene': 'MVD', 'score': 5.94}, {'connected_gene': 'SNAI3', 'score': 0.34}]
chr16	GH16I088672	88672680	88675359	0.59	[{'connected_gene': 'SNAI3-AS1', 'score': 15.88}, {'connected_gene': 'CYBA', 'score': 12.45}, {'connected_gene': 'IL17C', 'score': 11.82}, {'connected_gene': 'CTU2', 'score': 9.08}, {'connected_gene': 'ENSG00000260121', 'score': 4.85}, {'connected_gene': 'SNAI3', 'score': 0.39}]
chr16	GH16I088451	88451913	88457959	2.57	[{'connected_gene': 'ZFPM1', 'score': 560.96}, {'connected_gene': 'RNF166', 'score': 16.13}, {'connected_gene': 'ZCCHC14', 'score': 10.92}, {'connected_gene': 'ENSG00000260121', 'score': 9.88}, {'connected_gene': 'ZC3H18', 'score': 3.74}, {'connected_gene': 'SNAI3', 'score': 1.71}, {'connected_gene': 'MIR5189', 'score': 0.39}]
chr16	GH16I088633	88633153	88638092	1.62	[{'connected_gene': 'CYBA', 'score': 18.86}, {'connected_gene': 'SNORD68', 'score': 13.39}, {'connected_gene': 'RPL13', 'score': 11.61}, {'connected_gene': 'RNF166', 'score': 9.62}, {'connected_gene': 'ZC3H18', 'score': 5.27}, {'connected_gene': 'SNAI3', 'score': 3.58}, {'connected_gene': 'CBFA2T3', 'score': 2.19}, {'connected_gene': 'ZFPM1', 'score': 2.18}, {'connected_gene': 'ACSF3', 'score': 1.43}, {'connected_gene': 'IL17C', 'score': 0.77}]
chr16	GH16I088621	88621568	88622793	0.31	[{'connected_gene': 'CYBA', 'score': 20.3}, {'connected_gene': 'MVD', 'score': 12.16}, {'connected_gene': 'ZC3H18', 'score': 11.76}, {'connected_gene': 'SNAI3', 'score': 11.61}, {'connected_gene': 'IL17C', 'score': 0.37}]
chr16	GH16I088624	88624693	88625731	0.52	[{'connected_gene': 'CYBA', 'score': 27.03}, {'connected_gene': 'MVD', 'score': 12.18}, {'connected_gene': 'ZC3H18', 'score': 11.84}, {'connected_gene': 'SNAI3', 'score': 11.61}, {'connected_gene': 'IL17C', 'score': 0.39}]
chr16	GH16I088615	88615744	88621240	1.41	[{'connected_gene': 'CYBA', 'score': 28.24}, {'connected_gene': 'IL17C', 'score': 18.63}, {'connected_gene': 'ZC3H18', 'score': 14.68}, {'connected_gene': 'SNAI3', 'score': 13.58}, {'connected_gene': 'MVD', 'score': 12.16}, {'connected_gene': 'RNF166', 'score': 10.38}, {'connected_gene': 'ZFPM1', 'score': 3.36}]
chr16	GH16I088698	88698126	88707536	2.57	[{'connected_gene': 'RNF166', 'score': 587.49}, {'connected_gene': 'CTU2', 'score': 562.62}, {'connected_gene': 'SNAI3-AS1', 'score': 11.37}, {'connected_gene': 'SNAI3', 'score': 10.2}, {'connected_gene': 'ENSG00000260121', 'score': 7.56}, {'connected_gene': 'PIEZO1', 'score': 7.16}, {'connected_gene': 'CDK10', 'score': 5.44}, {'connected_gene': 'ZC3H18', 'score': 4.71}, {'connected_gene': 'APRT', 'score': 4.68}, {'connected_gene': 'CYBA', 'score': 2.8}, {'connected_gene': 'CBFA2T3', 'score': 2.61}, {'connected_gene': 'ZFPM1', 'score': 2.52}, {'connected_gene': 'GALNS', 'score': 1.5}, {'connected_gene': 'ACSF3', 'score': 1.21}, {'connected_gene': 'ENSG00000259813', 'score': 0.44}]
chr16	GH16I088468	88468341	88474582	1.43	[{'connected_gene': 'RNF166', 'score': 8.69}, {'connected_gene': 'ZFPM1', 'score': 8.45}, {'connected_gene': 'LOC100128882', 'score': 5.5}, {'connected_gene': 'ZC3H18', 'score': 2.72}, {'connected_gene': 'APRT', 'score': 2.04}, {'connected_gene': 'CTU2', 'score': 1.67}, {'connected_gene': 'ZNF469', 'score': 1.49}, {'connected_gene': 'SNAI3', 'score': 1.45}, {'connected_gene': 'PIEZO1', 'score': 1.39}, {'connected_gene': 'MIR5189', 'score': 0.77}]
chr16	GH16I088685	88685153	88688756	2.04	[{'connected_gene': 'PIR40856', 'score': 550.77}, {'connected_gene': 'SNAI3', 'score': 550.77}, {'connected_gene': 'SNORD68', 'score': 23.55}, {'connected_gene': 'ACSF3', 'score': 22.34}, {'connected_gene': 'RPL13', 'score': 22.16}, {'connected_gene': 'ANKRD11', 'score': 19.63}, {'connected_gene': 'BANP', 'score': 19.37}, {'connected_gene': 'SNAI3-AS1', 'score': 13.47}, {'connected_gene': 'RNF166', 'score': 12.5}, {'connected_gene': 'MVD', 'score': 12.37}, {'connected_gene': 'CYBA', 'score': 12.31}, {'connected_gene': 'ENSG00000268218', 'score': 11.96}, {'connected_gene': 'ENSG00000260121', 'score': 11.23}, {'connected_gene': 'LOC101927863', 'score': 10.55}, {'connected_gene': 'CHMP1A', 'score': 10.19}, {'connected_gene': 'APRT', 'score': 10.1}, {'connected_gene': 'CTU2', 'score': 7.32}, {'connected_gene': 'PIEZO1', 'score': 7.18}, {'connected_gene': 'ENSG00000259813', 'score': 0.44}]