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
ENST00000257192	[[28898051, 28898311], [28906543, 28906579], [28906836, 28906968], [28908151, 28908307], [28909854, 28909999], [28911663, 28911830], [28913551, 28913686], [28913979, 28914165], [28916316, 28916576], [28918277, 28918417], [28919706, 28919988], [28923412, 28923546], [28923888, 28923958], [28925952, 28926161], [28934259, 28936992]]	[[28898263, 28898311], [28906543, 28906579], [28906836, 28906968], [28908151, 28908307], [28909854, 28909999], [28911663, 28911830], [28913551, 28913686], [28913979, 28914165], [28916316, 28916576], [28918277, 28918417], [28919706, 28919988], [28923412, 28923546], [28923888, 28923958], [28925952, 28926161], [28934259, 28935309]]
ENST00000462981	[[28923593, 28923800], [28923888, 28923958], [28925952, 28926161], [28934259, 28935630]]	[[28925984, 28926161], [28934259, 28935309]]
NM_001942	[[28898051, 28898311], [28906543, 28906579], [28906836, 28906968], [28908151, 28908307], [28909854, 28909999], [28911663, 28911830], [28913551, 28913686], [28913979, 28914165], [28916316, 28916576], [28918277, 28918417], [28919706, 28919988], [28923412, 28923546], [28923888, 28923958], [28925952, 28926161], [28934259, 28939209]]	[[28898263, 28898311], [28906543, 28906579], [28906836, 28906968], [28908151, 28908307], [28909854, 28909999], [28911663, 28911830], [28913551, 28913686], [28913979, 28914165], [28916316, 28916576], [28918277, 28918417], [28919706, 28919988], [28923412, 28923546], [28923888, 28923958], [28925952, 28926161], [28934259, 28935309]]

Promoter

Chrom	Start	End	Description
chr18	28898087	28898106	CAGE_peak_2_at_DSG1_5end
chr18	28898107	28898130	CAGE_peak_1_at_DSG1_5end
chr18	28923589	28923608	CAGE_peak_4_at_DSG1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr18	GH18I031267	31267630	31270385	0.76	[{'connected_gene': 'DSG1', 'score': 11.47}, {'connected_gene': 'DSC2', 'score': 5.46}, {'connected_gene': 'LOC105372049', 'score': 0.26}]
chr18	GH18I031225	31225278	31226609	0.91	[{'connected_gene': 'DSG1', 'score': 10.56}, {'connected_gene': 'DSC2', 'score': 4.86}, {'connected_gene': 'LOC105372049', 'score': 0.77}, {'connected_gene': 'PIR46251', 'score': 0.34}]
chr18	GH18I031240	31240575	31246454	1.59	[{'connected_gene': 'DSG1', 'score': 10.6}, {'connected_gene': 'DSC2', 'score': 6.2}, {'connected_gene': 'LOC105372049', 'score': 0.37}]
chr18	GH18I031363	31363346	31363368	0.34	[{'connected_gene': 'DSG1', 'score': 10.94}, {'connected_gene': 'DSG4', 'score': 0.39}, {'connected_gene': 'RNU6-167P', 'score': 0.37}, {'connected_gene': 'GC18M031346', 'score': 0.37}, {'connected_gene': 'DSG1-AS1', 'score': 0.21}]
chr18	GH18I031330	31330117	31330460	0.2	[{'connected_gene': 'DSG1', 'score': 0.39}, {'connected_gene': 'RNU6-167P', 'score': 0.37}, {'connected_gene': 'GC18M031346', 'score': 0.37}]
chr18	GH18I031318	31318111	31318170	0.5	[{'connected_gene': 'DSG1', 'score': 550.77}, {'connected_gene': 'RNU6-167P', 'score': 0.31}, {'connected_gene': 'GC18M031346', 'score': 0.31}]
chr18	GH18I031329	31329898	31330107	0.2	[{'connected_gene': 'DSG1', 'score': 0.39}, {'connected_gene': 'RNU6-167P', 'score': 0.37}, {'connected_gene': 'GC18M031346', 'score': 0.37}]
chr18	GH18I031324	31324561	31325596	0.6	[{'connected_gene': 'DSG1', 'score': 0.44}, {'connected_gene': 'RNU6-167P', 'score': 0.34}, {'connected_gene': 'GC18M031346', 'score': 0.34}]
chr18	GH18I031278	31278206	31279467	0.78	[{'connected_gene': 'DSG1', 'score': 11.35}, {'connected_gene': 'LOC105372049', 'score': 0.23}]
chr18	GH18I031300	31300623	31302127	0.31	[{'connected_gene': 'DSG1', 'score': 0.37}, {'connected_gene': 'LOC105372049', 'score': 0.19}]
chr18	GH18I031274	31274654	31276293	1	[{'connected_gene': 'DSG1', 'score': 11.49}, {'connected_gene': 'LOC105372049', 'score': 0.25}]
chr18	GH18I030991	30991875	30993379	0.2	[{'connected_gene': 'DSC3', 'score': 10.38}, {'connected_gene': 'DSG1', 'score': 10.18}, {'connected_gene': 'RNU6-857P', 'score': 0.44}]
chr18	GH18I031255	31255297	31256935	0.58	[{'connected_gene': 'DSC2', 'score': 16.03}, {'connected_gene': 'DSG1', 'score': 10.17}, {'connected_gene': 'LOC105372049', 'score': 0.31}]
chr18	GH18I031247	31247600	31250593	0.77	[{'connected_gene': 'DSC2', 'score': 15.7}, {'connected_gene': 'LOC105372049', 'score': 0.34}, {'connected_gene': 'DSG1', 'score': 0.2}]
chr18	GH18I031261	31261348	31263020	0.52	[{'connected_gene': 'DSC2', 'score': 5.95}, {'connected_gene': 'LOC105372049', 'score': 0.29}, {'connected_gene': 'DSG1', 'score': 0.22}]
chr18	GH18I031232	31232192	31234662	0.8	[{'connected_gene': 'DSC2', 'score': 7.87}, {'connected_gene': 'LOC105372049', 'score': 0.44}, {'connected_gene': 'DSG1', 'score': 0.18}]
chr18	GH18I031250	31250927	31251156	0.64	[{'connected_gene': 'DSC2', 'score': 9.94}, {'connected_gene': 'LOC105372049', 'score': 0.34}, {'connected_gene': 'DSG1', 'score': 0.2}]
chr18	GH18I031229	31229530	31231623	0.98	[{'connected_gene': 'DSC2', 'score': 7.87}, {'connected_gene': 'LOC105372049', 'score': 0.77}, {'connected_gene': 'DSG1', 'score': 0.17}]
chr18	GH18I031399	31399047	31402501	0.8	[{'connected_gene': 'RNU6-167P', 'score': 10.72}, {'connected_gene': 'DSG1', 'score': 10.67}, {'connected_gene': 'DSC2', 'score': 9.92}, {'connected_gene': 'DSG1-AS1', 'score': 9.08}, {'connected_gene': 'GC18P031391', 'score': 0.44}, {'connected_gene': 'DSG4', 'score': 0.34}, {'connected_gene': 'PIR43200', 'score': 0.34}]
chr18	GH18I031302	31302643	31303825	0.59	[{'connected_gene': 'RNU6-167P', 'score': 10.87}, {'connected_gene': 'DSG1', 'score': 0.39}, {'connected_gene': 'LOC105372049', 'score': 0.18}]
chr18	GH18I031509	31509651	31514649	1.65	[{'connected_gene': 'ENSG00000266521', 'score': 21.6}, {'connected_gene': 'B4GALT6', 'score': 4.27}, {'connected_gene': 'DSG2', 'score': 3.56}, {'connected_gene': 'DSC3', 'score': 2.98}, {'connected_gene': 'DSG1', 'score': 2.69}, {'connected_gene': 'DSC2', 'score': 1.28}, {'connected_gene': 'DSG2-AS1', 'score': 0.26}]
chr18	GH18I031202	31202220	31209381	1.7	[{'connected_gene': 'PIR46251', 'score': 550.77}, {'connected_gene': 'DSC2', 'score': 17.55}, {'connected_gene': 'RNF138', 'score': 10.24}, {'connected_gene': 'DSC1', 'score': 9.61}, {'connected_gene': 'DSC3', 'score': 6.81}, {'connected_gene': 'DSG1', 'score': 5.32}, {'connected_gene': 'DSG3', 'score': 2.51}, {'connected_gene': 'DSG2', 'score': 2.16}, {'connected_gene': 'LOC105372049', 'score': 0.34}]