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
ENST00000597695	[[48675574, 48675618], [48741192, 48741242], [48784878, 48784946], [48785627, 48785754], [48789017, 48790833]]	[[48785720, 48785754], [48789017, 48790135]]
ENST00000595607	[[48773358, 48773476], [48774501, 48774706], [48774983, 48775085], [48782987, 48783065], [48785627, 48785754], [48789017, 48790865]]	[[48783056, 48783065], [48785627, 48785754], [48789017, 48790135]]
ENST00000600687	[[48774312, 48774376], [48774543, 48774706], [48782987, 48783065], [48785627, 48785754], [48789017, 48790327]]	[[48783056, 48783065], [48785627, 48785754], [48789017, 48790135]]
ENST00000594024	[[48774628, 48774706], [48775005, 48775085], [48782987, 48783065], [48784808, 48784946], [48785627, 48785754], [48789017, 48789085]]	[[48783056, 48783065], [48784808, 48784946], [48785627, 48785754], [48789017, 48789085]]
ENST00000595408	[[48774638, 48774706], [48774983, 48775085], [48782987, 48783065], [48784808, 48784946], [48785627, 48785754], [48789017, 48789138]]	[[48783056, 48783065], [48784808, 48784946], [48785627, 48785754], [48789017, 48789138]]
ENST00000315849	[[48774653, 48774706], [48774983, 48775085], [48782987, 48783065], [48785627, 48785754], [48789017, 48790863]]	[[48783056, 48783065], [48785627, 48785754], [48789017, 48790135]]
ENST00000601320	[[48774879, 48775085], [48782987, 48783065], [48784808, 48784946], [48785627, 48785662]]	[[48783056, 48783065], [48784808, 48784946], [48785627, 48785662]]
ENST00000598898	[[48785418, 48785754], [48789017, 48789033]]	None
NM_153608	[[48773355, 48773476], [48774501, 48774706], [48774983, 48775085], [48782987, 48783065], [48785627, 48785754], [48789017, 48790865]]	[[48783056, 48783065], [48785627, 48785754], [48789017, 48790135]]
NM_001331097	[[48774159, 48774372], [48774501, 48774706], [48775005, 48775085], [48782987, 48783065], [48785627, 48785754], [48789017, 48790865]]	[[48783056, 48783065], [48785627, 48785754], [48789017, 48790135]]
NM_001331098	[[48774501, 48774706], [48774983, 48775085], [48782987, 48783065], [48784808, 48784946], [48785627, 48785754], [48789017, 48790865]]	[[48783056, 48783065], [48784808, 48784946], [48785627, 48785754], [48789017, 48790135]]

Promoter

Chrom	Start	End	Description
chr19	48773337	48773339	CAGE_peak_2_at_ZNF114_5end
chr19	48774586	48774670	CAGE_peak_1_at_ZNF114_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I048283	48283405	48285360	0.6	[{'connected_gene': 'CCDC114', 'score': 13.6}, {'connected_gene': 'TMEM143', 'score': 11.45}, {'connected_gene': 'SYNGR4', 'score': 11.45}, {'connected_gene': 'LMTK3', 'score': 10.9}, {'connected_gene': 'IZUMO1', 'score': 4.77}, {'connected_gene': 'GRIN2D', 'score': 4.73}, {'connected_gene': 'SPHK2', 'score': 4.58}, {'connected_gene': 'GC19P048288', 'score': 0.77}, {'connected_gene': 'ZNF114', 'score': 0.39}, {'connected_gene': 'LOC105372429', 'score': 0.39}]
chr19	GH19I048308	48308433	48311580	1.25	[{'connected_gene': 'CCDC114', 'score': 26.81}, {'connected_gene': 'KDELR1', 'score': 15.76}, {'connected_gene': 'NOP53', 'score': 12.84}, {'connected_gene': 'NOP53-AS1', 'score': 11.13}, {'connected_gene': 'CYTH2', 'score': 10.63}, {'connected_gene': 'RPL18', 'score': 10.34}, {'connected_gene': 'BAX', 'score': 10.11}, {'connected_gene': 'BICRA', 'score': 9.86}, {'connected_gene': 'GRWD1', 'score': 9.76}, {'connected_gene': 'ZNF114', 'score': 5.57}, {'connected_gene': 'EMP3', 'score': 0.39}, {'connected_gene': 'GC19P048288', 'score': 0.34}]
chr19	GH19I048264	48264486	48264764	0.48	[{'connected_gene': 'SULT2B1', 'score': 11.94}, {'connected_gene': 'TMEM143', 'score': 11.47}, {'connected_gene': 'SYNGR4', 'score': 11.47}, {'connected_gene': 'PLA2G4C', 'score': 10.52}, {'connected_gene': 'ELSPBP1', 'score': 10.06}, {'connected_gene': 'BSPH1', 'score': 10.06}, {'connected_gene': 'ZNF114', 'score': 5.05}, {'connected_gene': 'LOC105372429', 'score': 0.44}, {'connected_gene': 'CARD8', 'score': 0.44}]
chr19	GH19I048267	48267104	48267293	0.74	[{'connected_gene': 'SULT2B1', 'score': 11.94}, {'connected_gene': 'SYNGR4', 'score': 11.47}, {'connected_gene': 'TMEM143', 'score': 11.47}, {'connected_gene': 'BSPH1', 'score': 9.66}, {'connected_gene': 'ELSPBP1', 'score': 9.65}, {'connected_gene': 'ZNF114', 'score': 0.77}, {'connected_gene': 'LOC105372429', 'score': 0.77}, {'connected_gene': 'CARD8', 'score': 0.39}]
chr19	GH19I048172	48172177	48172236	0.5	[{'connected_gene': 'ZSWIM9', 'score': 550.77}, {'connected_gene': 'LIG1', 'score': 550.77}, {'connected_gene': 'ZNF114', 'score': 550.15}, {'connected_gene': 'ENSG00000280353', 'score': 0.31}]
chr19	GH19I048328	48328771	48334560	2.02	[{'connected_gene': 'BICRA', 'score': 38.68}, {'connected_gene': 'GRWD1', 'score': 34.32}, {'connected_gene': 'TMEM143', 'score': 24.42}, {'connected_gene': 'SNRNP70', 'score': 23.11}, {'connected_gene': 'NOP53-AS1', 'score': 22.72}, {'connected_gene': 'CA11', 'score': 14.74}, {'connected_gene': 'NOP53', 'score': 13.39}, {'connected_gene': 'KDELR1', 'score': 12.91}, {'connected_gene': 'RPL18', 'score': 12.9}, {'connected_gene': 'ZSWIM9', 'score': 12.76}, {'connected_gene': 'SYNGR4', 'score': 12.66}, {'connected_gene': 'EMP3', 'score': 11.33}, {'connected_gene': 'RUVBL2', 'score': 11.11}, {'connected_gene': 'RASIP1', 'score': 10.93}, {'connected_gene': 'SLC8A2', 'score': 10.63}, {'connected_gene': 'CYTH2', 'score': 10.44}, {'connected_gene': 'SNORD23', 'score': 10.4}, {'connected_gene': 'HSD17B14', 'score': 10.23}, {'connected_gene': 'CCDC114', 'score': 7.78}, {'connected_gene': 'CARD8', 'score': 7.55}, {'connected_gene': 'GRIN2D', 'score': 5.47}, {'connected_gene': 'ZNF114', 'score': 4.95}, {'connected_gene': 'CARD8-AS1', 'score': 4.93}, {'connected_gene': 'IZUMO1', 'score': 1.54}]
chr19	GH19I048269	48269273	48272238	2.16	[{'connected_gene': 'ZNF114', 'score': 559.51}, {'connected_gene': 'LOC105372429', 'score': 550.77}, {'connected_gene': 'CCDC114', 'score': 13.92}, {'connected_gene': 'CARD8-AS1', 'score': 4.96}, {'connected_gene': 'TMEM143', 'score': 4.81}]
chr19	GH19I048272	48272528	48273889	0.72	[{'connected_gene': 'LOC105372429', 'score': 550.77}, {'connected_gene': 'CCDC114', 'score': 9.91}, {'connected_gene': 'ZNF114', 'score': 0.77}, {'connected_gene': 'GC19P048288', 'score': 0.37}]
chr19	GH19I048253	48253907	48260996	2.58	[{'connected_gene': 'CARD8-AS1', 'score': 577.53}, {'connected_gene': 'CARD8', 'score': 562.69}, {'connected_gene': 'BICRA', 'score': 43.45}, {'connected_gene': 'KDELR1', 'score': 40.11}, {'connected_gene': 'GRWD1', 'score': 35.94}, {'connected_gene': 'SNRNP70', 'score': 35.52}, {'connected_gene': 'NOP53-AS1', 'score': 33.84}, {'connected_gene': 'NOP53', 'score': 32.35}, {'connected_gene': 'RPL18', 'score': 31.33}, {'connected_gene': 'SNORD23', 'score': 29.47}, {'connected_gene': 'PLA2G4C', 'score': 15.25}, {'connected_gene': 'RASIP1', 'score': 12.96}, {'connected_gene': 'BAX', 'score': 11.31}, {'connected_gene': 'TMEM143', 'score': 11.16}, {'connected_gene': 'SYNGR4', 'score': 11.16}, {'connected_gene': 'ENSG00000268746', 'score': 9.8}, {'connected_gene': 'CCDC114', 'score': 6.08}, {'connected_gene': 'EMP3', 'score': 3.78}, {'connected_gene': 'IZUMO1', 'score': 3.37}, {'connected_gene': 'CYTH2', 'score': 2.22}, {'connected_gene': 'ZNF114', 'score': 0.39}]
chr19	GH19I048243	48243718	48245742	0.86	[{'connected_gene': 'CARD8-AS1', 'score': 10.39}, {'connected_gene': 'CARD8', 'score': 9.34}, {'connected_gene': 'ZNF114', 'score': 5.95}, {'connected_gene': 'PLA2G4C', 'score': 5.9}, {'connected_gene': 'PIR59935', 'score': 0.77}, {'connected_gene': 'GC19M048250', 'score': 0.77}, {'connected_gene': 'PIR40942', 'score': 0.39}]