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
ENST00000380494	[[74666927, 74670016], [74675161, 74675298], [74676896, 74677026], [74677773, 74677902], [74680466, 74680537], [74681726, 74681859], [74685416, 74685512], [74695134, 74695212], [74696029, 74696122], [74698796, 74698883], [74706835, 74706928], [74712700, 74712858], [74715165, 74715249], [74721185, 74721324], [74722195, 74722303], [74754889, 74755006], [74801806, 74801941], [74806936, 74807330], [74807583, 74807963]]	[[74675170, 74675298], [74676896, 74677026], [74677773, 74677902], [74680466, 74680537], [74681726, 74681859], [74685416, 74685512], [74695134, 74695212], [74696029, 74696122], [74698796, 74698883], [74706835, 74706928], [74712700, 74712858], [74715165, 74715249], [74721185, 74721324], [74722195, 74722303], [74754889, 74755006], [74801806, 74801941], [74806936, 74807330], [74807583, 74807669]]
ENST00000405807	[[74669479, 74670016], [74675161, 74675298], [74676896, 74677026], [74677773, 74677902], [74680466, 74680537], [74681726, 74681859], [74685416, 74685512], [74695134, 74695212], [74696029, 74696122], [74698796, 74698883], [74706835, 74706928], [74712700, 74712858], [74715165, 74715249], [74721185, 74721324], [74722195, 74722303], [74754889, 74755006], [74801806, 74801941], [74806936, 74807454]]	[[74675170, 74675298], [74676896, 74677026], [74677773, 74677902], [74680466, 74680537], [74681726, 74681859], [74685416, 74685512], [74695134, 74695212], [74696029, 74696122], [74698796, 74698883], [74706835, 74706928], [74712700, 74712858], [74715165, 74715249], [74721185, 74721324], [74722195, 74722303], [74754889, 74755006], [74801806, 74801941], [74806936, 74807032]]
ENST00000261415	[[74669982, 74670016], [74675161, 74675298], [74676896, 74677026], [74677773, 74677902], [74680466, 74680537], [74681726, 74681859], [74685416, 74685512], [74696029, 74696122], [74698796, 74698883], [74706835, 74706928], [74712700, 74712858], [74715165, 74715249], [74721185, 74721324], [74722195, 74722303], [74754889, 74755006], [74801806, 74801941], [74806936, 74807454]]	[[74675170, 74675298], [74676896, 74677026], [74677773, 74677902], [74680466, 74680537], [74681726, 74681859], [74685416, 74685512], [74696029, 74696122], [74698796, 74698883], [74706835, 74706928], [74712700, 74712858], [74715165, 74715249], [74721185, 74721324], [74722195, 74722303], [74754889, 74755006], [74801806, 74801941], [74806936, 74807032]]
ENST00000357457	[[74664310, 74664483], [74675161, 74675298], [74676896, 74677026], [74677773, 74677902], [74680466, 74680537], [74681726, 74681859], [74685416, 74685512], [74696029, 74696046]]	[[74675170, 74675298], [74676896, 74677026], [74677773, 74677902], [74680466, 74680537], [74681726, 74681859], [74685416, 74685512], [74696029, 74696046]]
ENST00000604926	[[74664311, 74667666]]	None
ENST00000508692	[[74669787, 74670016], [74676969, 74677026], [74677773, 74677902], [74680466, 74680537], [74681726, 74681748]]	None
ENST00000508809	[[74674856, 74675298], [74676896, 74677026], [74677773, 74677894]]	[[74675170, 74675298], [74676896, 74677026], [74677773, 74677894]]
NM_005713	[[74666927, 74670016], [74675161, 74675298], [74676896, 74677026], [74677773, 74677902], [74680466, 74680537], [74681726, 74681859], [74685416, 74685512], [74695134, 74695212], [74696029, 74696122], [74698796, 74698883], [74706835, 74706928], [74712700, 74712858], [74715165, 74715249], [74721185, 74721324], [74722195, 74722303], [74754889, 74755006], [74801806, 74801941], [74806936, 74807454]]	[[74675170, 74675298], [74676896, 74677026], [74677773, 74677902], [74680466, 74680537], [74681726, 74681859], [74685416, 74685512], [74695134, 74695212], [74696029, 74696122], [74698796, 74698883], [74706835, 74706928], [74712700, 74712858], [74715165, 74715249], [74721185, 74721324], [74722195, 74722303], [74754889, 74755006], [74801806, 74801941], [74806936, 74807032]]
NM_031361	[[74666927, 74670016], [74675161, 74675298], [74676896, 74677026], [74677773, 74677902], [74680466, 74680537], [74681726, 74681859], [74685416, 74685512], [74696029, 74696122], [74698796, 74698883], [74706835, 74706928], [74712700, 74712858], [74715165, 74715249], [74721185, 74721324], [74722195, 74722303], [74754889, 74755006], [74801806, 74801941], [74806936, 74807454]]	[[74675170, 74675298], [74676896, 74677026], [74677773, 74677902], [74680466, 74680537], [74681726, 74681859], [74685416, 74685512], [74696029, 74696122], [74698796, 74698883], [74706835, 74706928], [74712700, 74712858], [74715165, 74715249], [74721185, 74721324], [74722195, 74722303], [74754889, 74755006], [74801806, 74801941], [74806936, 74807032]]
NM_001130105	[[74666927, 74670016], [74675161, 74675298], [74676896, 74677026], [74677773, 74677902], [74680466, 74680537], [74681726, 74681859], [74685416, 74685512], [74695134, 74695212], [74696029, 74696122], [74698796, 74698883], [74706835, 74706928], [74712700, 74712858], [74715165, 74715249], [74721185, 74721324], [74722195, 74722303], [74754889, 74755006], [74801806, 74801941], [74806936, 74807330], [74807583, 74807806]]	[[74675170, 74675298], [74676896, 74677026], [74677773, 74677902], [74680466, 74680537], [74681726, 74681859], [74685416, 74685512], [74695134, 74695212], [74696029, 74696122], [74698796, 74698883], [74706835, 74706928], [74712700, 74712858], [74715165, 74715249], [74721185, 74721324], [74722195, 74722303], [74754889, 74755006], [74801806, 74801941], [74806936, 74807330], [74807583, 74807669]]

Promoter

Chrom	Start	End	Description
chr5	74807053	74807064	CAGE_peak_3_at_COL4A3BP_5end
chr5	74807418	74807466	CAGE_peak_1_at_COL4A3BP_5end
chr5	74807616	74807619	CAGE_peak_5_at_COL4A3BP_5end
chr5	74807642	74807653	CAGE_peak_4_at_COL4A3BP_5end
chr5	74807665	74807677	CAGE_peak_8_at_COL4A3BP_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I075610	75610281	75618773	2.08	[{'connected_gene': 'ANKDD1B', 'score': 555.66}, {'connected_gene': 'POC5', 'score': 16.14}, {'connected_gene': 'RPS26P26', 'score': 12.48}, {'connected_gene': 'GCNT4', 'score': 11.77}, {'connected_gene': 'COL4A3BP', 'score': 11.02}, {'connected_gene': 'RNU6-680P', 'score': 0.15}]
chr5	GH05I075318	75318934	75322623	1.31	[{'connected_gene': 'GCNT4', 'score': 19.43}, {'connected_gene': 'ENSG00000272040', 'score': 12.82}, {'connected_gene': 'POC5', 'score': 4.7}, {'connected_gene': 'COL4A3BP', 'score': 4.06}, {'connected_gene': 'HMGCR', 'score': 0.37}, {'connected_gene': 'ENSG00000247372', 'score': 0.37}, {'connected_gene': 'GC05M075287', 'score': 0.29}]
chr5	GH05I075466	75466161	75467045	0.58	[{'connected_gene': 'GCNT4', 'score': 12.02}, {'connected_gene': 'RNU6-680P', 'score': 9.71}, {'connected_gene': 'GC05P075464', 'score': 0.77}, {'connected_gene': 'POLK', 'score': 0.26}, {'connected_gene': 'COL4A3BP', 'score': 0.25}]
chr5	GH05I075214	75214169	75215452	0.38	[{'connected_gene': 'GCNT4', 'score': 23.46}, {'connected_gene': 'COL4A3BP', 'score': 4.46}, {'connected_gene': 'GC05P075202', 'score': 0.39}, {'connected_gene': 'SUMO2P5', 'score': 0.39}, {'connected_gene': 'ANKRD31', 'score': 0.34}]
chr5	GH05I075677	75677295	75678866	0.95	[{'connected_gene': 'POC5', 'score': 12.18}, {'connected_gene': 'ANKDD1B', 'score': 11.73}, {'connected_gene': 'POLK', 'score': 2.11}, {'connected_gene': 'COL4A3BP', 'score': 1.26}, {'connected_gene': 'ANKRD31', 'score': 1.22}, {'connected_gene': 'RNU6-680P', 'score': 0.29}]
chr5	GH05I075601	75601348	75604597	0.46	[{'connected_gene': 'POC5', 'score': 15.88}, {'connected_gene': 'GCNT4', 'score': 10.7}, {'connected_gene': 'ENSG00000271815', 'score': 6.41}, {'connected_gene': 'COL4A3BP', 'score': 5.0}, {'connected_gene': 'ENSG00000248881', 'score': 0.77}, {'connected_gene': 'GC05M075606', 'score': 0.77}, {'connected_gene': 'GC05M075605', 'score': 0.77}]
chr5	GH05I075565	75565416	75568970	1.43	[{'connected_gene': 'POC5', 'score': 12.82}, {'connected_gene': 'RPS26P26', 'score': 11.73}, {'connected_gene': 'COL4A3BP', 'score': 11.05}, {'connected_gene': 'ENSG00000271815', 'score': 6.43}, {'connected_gene': 'ANKRD31', 'score': 2.83}, {'connected_gene': 'POLK', 'score': 2.04}, {'connected_gene': 'RNU7-175P', 'score': 0.31}, {'connected_gene': 'ENSG00000248881', 'score': 0.29}]
chr5	GH05I075523	75523637	75526800	1	[{'connected_gene': 'COL4A3BP', 'score': 11.23}, {'connected_gene': 'ANKDD1B', 'score': 5.04}, {'connected_gene': 'POLK', 'score': 0.39}, {'connected_gene': 'GC05M075540', 'score': 0.39}]
chr5	GH05I075509	75509200	75514610	2.08	[{'connected_gene': 'COL4A3BP', 'score': 561.58}, {'connected_gene': 'POLK', 'score': 555.05}, {'connected_gene': 'GCNT4', 'score': 11.68}, {'connected_gene': 'ENSG00000247372', 'score': 10.3}, {'connected_gene': 'POC5', 'score': 8.49}, {'connected_gene': 'ENSG00000271815', 'score': 6.46}]
chr5	GH05I075558	75558214	75560130	0.69	[{'connected_gene': 'COL4A3BP', 'score': 10.89}, {'connected_gene': 'GCNT4', 'score': 6.19}, {'connected_gene': 'RNU7-175P', 'score': 0.34}, {'connected_gene': 'ENSG00000248881', 'score': 0.26}, {'connected_gene': 'POLK', 'score': 0.25}]
chr5	GH05I075622	75622165	75624778	0.66	[{'connected_gene': 'COL4A3BP', 'score': 10.78}, {'connected_gene': 'POC5', 'score': 9.87}, {'connected_gene': 'GCNT4', 'score': 9.54}, {'connected_gene': 'ANKDD1B', 'score': 0.39}, {'connected_gene': 'RNU6-680P', 'score': 0.17}]
chr5	GH05I075620	75620064	75621461	0.77	[{'connected_gene': 'COL4A3BP', 'score': 11.0}, {'connected_gene': 'POC5', 'score': 7.66}, {'connected_gene': 'GCNT4', 'score': 5.73}, {'connected_gene': 'ANKDD1B', 'score': 0.44}, {'connected_gene': 'RNU6-680P', 'score': 0.17}]
chr5	GH05I075533	75533292	75534515	0.2	[{'connected_gene': 'COL4A3BP', 'score': 11.17}, {'connected_gene': 'POC5', 'score': 6.85}, {'connected_gene': 'GCNT4', 'score': 6.53}, {'connected_gene': 'GC05M075540', 'score': 0.77}, {'connected_gene': 'POLK', 'score': 0.34}]
chr5	GH05I075701	75701958	75701997	0.22	[{'connected_gene': 'COL4A3BP', 'score': 1.47}, {'connected_gene': 'RNU6-680P', 'score': 0.44}, {'connected_gene': 'POC5', 'score': 0.37}, {'connected_gene': 'ANKDD1B', 'score': 0.16}]
chr5	GH05I075910	75910359	75910756	0.25	[{'connected_gene': 'ENSG00000249301', 'score': 550.77}, {'connected_gene': 'BIN2P2', 'score': 550.77}, {'connected_gene': 'IQGAP2', 'score': 2.36}, {'connected_gene': 'COL4A3BP', 'score': 2.12}, {'connected_gene': 'POLK', 'score': 1.37}, {'connected_gene': 'LOC391798', 'score': 0.18}]
chr5	GH05I075465	75465596	75466000	0.72	[{'connected_gene': 'GC05P075464', 'score': 0.77}, {'connected_gene': 'COL4A3BP', 'score': 0.25}, {'connected_gene': 'POLK', 'score': 0.25}]
chr5	GH05I075381	75381096	75382060	0.71	[{'connected_gene': 'GC05P075375', 'score': 0.44}, {'connected_gene': 'GC05P075458', 'score': 0.18}, {'connected_gene': 'COL4A3BP', 'score': 0.12}]
chr5	GH05I075461	75461201	75461400	0.43	[{'connected_gene': 'PIR58510', 'score': 550.77}, {'connected_gene': 'GC05P075462', 'score': 550.77}, {'connected_gene': 'GC05P075464', 'score': 550.77}, {'connected_gene': 'GC05P075458', 'score': 0.77}, {'connected_gene': 'COL4A3BP', 'score': 0.23}]
chr5	GH05I075373	75373958	75374951	0.85	[{'connected_gene': 'GC05P075375', 'score': 550.77}, {'connected_gene': 'RPS26P26', 'score': 550.77}, {'connected_gene': 'POC5', 'score': 6.79}, {'connected_gene': 'COL4A3BP', 'score': 0.12}]
chr5	GH05I075457	75457660	75457977	0.73	[{'connected_gene': 'GC05P075458', 'score': 550.77}, {'connected_gene': 'RPS26P26', 'score': 16.62}, {'connected_gene': 'NSA2', 'score': 12.12}, {'connected_gene': 'HEXB', 'score': 9.91}, {'connected_gene': 'POC5', 'score': 8.48}, {'connected_gene': 'ENSG00000271815', 'score': 8.15}, {'connected_gene': 'COL4A3BP', 'score': 0.23}, {'connected_gene': 'GC05P075375', 'score': 0.18}]