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
ENST00000316939	[[13064971, 13065340], [13067676, 13068050]]	[[13065021, 13065340], [13067676, 13068026]]
NM_052850	[[13064969, 13065340], [13067676, 13068068]]	[[13065021, 13065340], [13067676, 13068026]]

Promoter

Chrom	Start	End	Description
chr19	13068012	13068053	CAGE_peak_1_at_GADD45GIP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I012955	12955815	12958117	2.03	[{'connected_gene': 'GADD45GIP1', 'score': 550.77}, {'connected_gene': 'MRI1', 'score': 18.98}, {'connected_gene': 'ZNF564', 'score': 17.06}, {'connected_gene': 'ZNF136', 'score': 15.42}, {'connected_gene': 'CCDC130', 'score': 13.64}, {'connected_gene': 'WDR83OS', 'score': 13.35}, {'connected_gene': 'ZNF442', 'score': 12.76}, {'connected_gene': 'ZNF709', 'score': 11.76}, {'connected_gene': 'ZNF625', 'score': 10.71}, {'connected_gene': 'ZNF799', 'score': 10.6}, {'connected_gene': 'ZNF788', 'score': 10.4}, {'connected_gene': 'ENSG00000242615', 'score': 10.34}, {'connected_gene': 'ZNF844', 'score': 10.02}, {'connected_gene': 'RPS6P25', 'score': 9.88}, {'connected_gene': 'TRIR', 'score': 9.83}, {'connected_gene': 'STX10', 'score': 4.83}, {'connected_gene': 'DNASE2', 'score': 4.47}, {'connected_gene': 'RAD23A', 'score': 0.39}]
chr19	GH19I013160	13160386	13174204	1.84	[{'connected_gene': 'CCDC130', 'score': 45.53}, {'connected_gene': 'ZNF799', 'score': 33.54}, {'connected_gene': 'ZNF44', 'score': 33.46}, {'connected_gene': 'ZNF791', 'score': 32.13}, {'connected_gene': 'TRIR', 'score': 31.74}, {'connected_gene': 'ZNF564', 'score': 28.78}, {'connected_gene': 'WDR83OS', 'score': 26.78}, {'connected_gene': 'ZNF442', 'score': 21.9}, {'connected_gene': 'TRMT1', 'score': 21.38}, {'connected_gene': 'DCAF15', 'score': 13.73}, {'connected_gene': 'MRI1', 'score': 12.74}, {'connected_gene': 'MAN2B1', 'score': 11.88}, {'connected_gene': 'RFX1', 'score': 11.15}, {'connected_gene': 'RPS6P25', 'score': 11.01}, {'connected_gene': 'LOC284454', 'score': 10.53}, {'connected_gene': 'LYL1', 'score': 9.37}, {'connected_gene': 'JUNB', 'score': 7.1}, {'connected_gene': 'RAD23A', 'score': 5.07}, {'connected_gene': 'HOOK2', 'score': 4.87}, {'connected_gene': 'ZNF709', 'score': 4.61}, {'connected_gene': 'STX10', 'score': 2.82}, {'connected_gene': 'NACC1', 'score': 1.84}, {'connected_gene': 'GADD45GIP1', 'score': 1.43}, {'connected_gene': 'BEST2', 'score': 1.19}, {'connected_gene': 'RPL12P42', 'score': 0.44}, {'connected_gene': 'GC19P013200', 'score': 0.29}]
chr19	GH19I012943	12943504	12950335	2.3	[{'connected_gene': 'RAD23A', 'score': 550.77}, {'connected_gene': 'CCDC130', 'score': 30.87}, {'connected_gene': 'ZNF564', 'score': 29.25}, {'connected_gene': 'WDR83OS', 'score': 24.59}, {'connected_gene': 'ZNF136', 'score': 23.47}, {'connected_gene': 'TRIR', 'score': 19.38}, {'connected_gene': 'MRI1', 'score': 18.98}, {'connected_gene': 'ZNF799', 'score': 18.79}, {'connected_gene': 'GCDH', 'score': 16.47}, {'connected_gene': 'ZNF44', 'score': 12.79}, {'connected_gene': 'ZNF442', 'score': 12.76}, {'connected_gene': 'ZNF878', 'score': 12.72}, {'connected_gene': 'ZNF433-AS1', 'score': 11.2}, {'connected_gene': 'MAN2B1', 'score': 10.58}, {'connected_gene': 'ZNF20', 'score': 10.22}, {'connected_gene': 'ZNF844', 'score': 10.02}, {'connected_gene': 'RPS6P25', 'score': 9.9}, {'connected_gene': 'TRMT1', 'score': 9.84}, {'connected_gene': 'ZNF763', 'score': 9.65}, {'connected_gene': 'HOOK2', 'score': 6.16}, {'connected_gene': 'CALR', 'score': 5.15}, {'connected_gene': 'ENSG00000267458', 'score': 0.77}, {'connected_gene': 'GADD45GIP1', 'score': 0.39}]
chr19	GH19I013030	13030322	13038529	1.66	[{'connected_gene': 'TRMT1', 'score': 41.48}, {'connected_gene': 'ZNF844', 'score': 36.77}, {'connected_gene': 'ZNF791', 'score': 36.65}, {'connected_gene': 'ZNF442', 'score': 34.85}, {'connected_gene': 'ZNF136', 'score': 34.51}, {'connected_gene': 'ZNF625', 'score': 23.24}, {'connected_gene': 'MRI1', 'score': 22.85}, {'connected_gene': 'RPS6P25', 'score': 22.43}, {'connected_gene': 'STX10', 'score': 17.13}, {'connected_gene': 'ZNF433', 'score': 13.91}, {'connected_gene': 'NFIX', 'score': 13.09}, {'connected_gene': 'DAND5', 'score': 13.02}, {'connected_gene': 'GADD45GIP1', 'score': 13.0}, {'connected_gene': 'CCDC130', 'score': 12.45}, {'connected_gene': 'ZNF564', 'score': 12.03}, {'connected_gene': 'LYL1', 'score': 12.0}, {'connected_gene': 'NACC1', 'score': 11.97}, {'connected_gene': 'IER2', 'score': 11.44}, {'connected_gene': 'ZNF44', 'score': 10.39}, {'connected_gene': 'ZNF563', 'score': 9.86}, {'connected_gene': 'ENSG00000242615', 'score': 9.73}, {'connected_gene': 'GCDH', 'score': 6.13}, {'connected_gene': 'TNPO2', 'score': 3.91}, {'connected_gene': 'FBXW9', 'score': 2.14}, {'connected_gene': 'WDR83', 'score': 1.96}, {'connected_gene': 'PIR45233', 'score': 0.39}, {'connected_gene': 'ENSG00000267610', 'score': 0.28}]
chr19	GH19I013042	13042471	13045474	1.18	[{'connected_gene': 'TRMT1', 'score': 22.22}, {'connected_gene': 'ZNF20', 'score': 21.95}, {'connected_gene': 'ZNF490', 'score': 16.0}, {'connected_gene': 'LYL1', 'score': 12.4}, {'connected_gene': 'NACC1', 'score': 12.37}, {'connected_gene': 'RNASEH2A', 'score': 12.05}, {'connected_gene': 'NFIX', 'score': 12.01}, {'connected_gene': 'DAND5', 'score': 11.95}, {'connected_gene': 'GADD45GIP1', 'score': 11.93}, {'connected_gene': 'DCAF15', 'score': 11.88}, {'connected_gene': 'ZNF44', 'score': 11.4}, {'connected_gene': 'STX10', 'score': 11.21}, {'connected_gene': 'IER2', 'score': 11.21}, {'connected_gene': 'SYCE2', 'score': 11.04}, {'connected_gene': 'CCDC130', 'score': 11.04}, {'connected_gene': 'RPL28P5', 'score': 10.69}, {'connected_gene': 'ZNF136', 'score': 10.59}, {'connected_gene': 'FBXW9', 'score': 10.47}, {'connected_gene': 'ZNF799', 'score': 9.99}, {'connected_gene': 'RFX1', 'score': 9.72}, {'connected_gene': 'JUNB', 'score': 3.62}, {'connected_gene': 'ZNF791', 'score': 3.23}, {'connected_gene': 'WDR83', 'score': 1.68}, {'connected_gene': 'ZNF564', 'score': 1.26}, {'connected_gene': 'PIR45233', 'score': 0.34}, {'connected_gene': 'ENSG00000267610', 'score': 0.31}]
chr19	GH19I013011	13011600	13028789	2.76	[{'connected_gene': 'NFIX', 'score': 566.3}, {'connected_gene': 'ZNF136', 'score': 48.3}, {'connected_gene': 'ZNF709', 'score': 47.13}, {'connected_gene': 'ZNF791', 'score': 43.3}, {'connected_gene': 'TRMT1', 'score': 42.99}, {'connected_gene': 'CCDC130', 'score': 38.84}, {'connected_gene': 'MRI1', 'score': 36.72}, {'connected_gene': 'ZNF44', 'score': 34.35}, {'connected_gene': 'ZNF564', 'score': 32.98}, {'connected_gene': 'ZNF625', 'score': 31.23}, {'connected_gene': 'ZNF442', 'score': 30.86}, {'connected_gene': 'ZNF844', 'score': 28.29}, {'connected_gene': 'WDR83OS', 'score': 28.26}, {'connected_gene': 'ZNF788', 'score': 27.62}, {'connected_gene': 'ZNF20', 'score': 24.46}, {'connected_gene': 'ZNF799', 'score': 23.33}, {'connected_gene': 'ZNF433', 'score': 22.78}, {'connected_gene': 'TRIR', 'score': 22.07}, {'connected_gene': 'ENSG00000242615', 'score': 21.61}, {'connected_gene': 'ZNF878', 'score': 19.37}, {'connected_gene': 'RFX1', 'score': 18.24}, {'connected_gene': 'SYCE2', 'score': 13.74}, {'connected_gene': 'RPS6P25', 'score': 13.09}, {'connected_gene': 'DAND5', 'score': 13.04}, {'connected_gene': 'GADD45GIP1', 'score': 13.02}, {'connected_gene': 'DHPS', 'score': 11.97}, {'connected_gene': 'LYL1', 'score': 11.97}, {'connected_gene': 'NACC1', 'score': 11.94}, {'connected_gene': 'NANOS3', 'score': 11.52}, {'connected_gene': 'ZNF490', 'score': 10.77}, {'connected_gene': 'ENSG00000248406', 'score': 10.3}, {'connected_gene': 'TNPO2', 'score': 10.02}, {'connected_gene': 'FBXW9', 'score': 9.82}, {'connected_gene': 'MAN2B1', 'score': 9.79}, {'connected_gene': 'GCDH', 'score': 5.84}, {'connected_gene': 'CALR', 'score': 5.83}, {'connected_gene': 'DNASE2', 'score': 5.37}, {'connected_gene': 'MAST1', 'score': 2.22}, {'connected_gene': 'WDR83', 'score': 1.44}, {'connected_gene': 'CACNA1A', 'score': 1.39}, {'connected_gene': 'PIR45233', 'score': 0.77}, {'connected_gene': 'GC19M013014', 'score': 0.44}, {'connected_gene': 'ENSG00000267417', 'score': 0.44}]
chr19	GH19I013029	13029702	13030253	0.76	[{'connected_gene': 'NFIX', 'score': 13.11}, {'connected_gene': 'DAND5', 'score': 13.02}, {'connected_gene': 'GADD45GIP1', 'score': 13.01}, {'connected_gene': 'LYL1', 'score': 11.98}, {'connected_gene': 'NACC1', 'score': 11.96}, {'connected_gene': 'TRMT1', 'score': 11.96}, {'connected_gene': 'PIR45233', 'score': 0.44}, {'connected_gene': 'ENSG00000267610', 'score': 0.26}]
chr19	GH19I013039	13039221	13041494	0.43	[{'connected_gene': 'LYL1', 'score': 12.36}, {'connected_gene': 'NFIX', 'score': 12.35}, {'connected_gene': 'NACC1', 'score': 12.33}, {'connected_gene': 'TRMT1', 'score': 12.33}, {'connected_gene': 'DAND5', 'score': 12.27}, {'connected_gene': 'GADD45GIP1', 'score': 12.26}, {'connected_gene': 'STX10', 'score': 11.44}, {'connected_gene': 'IER2', 'score': 11.44}, {'connected_gene': 'SYCE2', 'score': 10.65}, {'connected_gene': 'GCDH', 'score': 6.29}, {'connected_gene': 'PIR45233', 'score': 0.37}, {'connected_gene': 'ENSG00000267610', 'score': 0.29}]
chr19	GH19I012951	12951569	12955472	1.18	[{'connected_gene': 'GCDH', 'score': 15.44}, {'connected_gene': 'HOOK2', 'score': 5.51}, {'connected_gene': 'DNASE2', 'score': 4.5}, {'connected_gene': 'GADD45GIP1', 'score': 0.77}, {'connected_gene': 'RAD23A', 'score': 0.44}]