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
ENST00000317749	[[23950638, 23950955], [23955475, 23955517], [23955825, 23955847], [23956321, 23956401], [23959039, 23959061], [23959761, 23959844], [23961550, 23961580], [23962780, 23962802], [23964277, 23964363], [23967069, 23967091], [23968167, 23968235], [23974002, 23974508]]	[[23950950, 23950955], [23955475, 23955517], [23955825, 23955847], [23956321, 23956401], [23959039, 23959061], [23959761, 23959844], [23961550, 23961580], [23962780, 23962802], [23964277, 23964363], [23967069, 23967091], [23968167, 23968235], [23974002, 23974210]]
NM_016449	[[23950638, 23950955], [23955475, 23955517], [23955825, 23955847], [23956321, 23956401], [23959039, 23959061], [23959761, 23959844], [23961550, 23961580], [23962780, 23962802], [23964277, 23964363], [23967069, 23967091], [23968167, 23968235], [23974002, 23974508]]	[[23950950, 23950955], [23955475, 23955517], [23955825, 23955847], [23956321, 23956401], [23959039, 23959061], [23959761, 23959844], [23961550, 23961580], [23962780, 23962802], [23964277, 23964363], [23967069, 23967091], [23968167, 23968235], [23974002, 23974210]]

Promoter

Chrom	Start	End	Description
chr22	23974506	23974508	CAGE_peak_1_at_C22orf43_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr22	GH22I023833	23833926	23840843	2.16	[{'connected_gene': 'DERL3', 'score': 556.01}, {'connected_gene': 'SMARCB1', 'score': 32.91}, {'connected_gene': 'MMP11', 'score': 24.42}, {'connected_gene': 'CHCHD10', 'score': 17.24}, {'connected_gene': 'ZNF70', 'score': 13.61}, {'connected_gene': 'SNRPD3', 'score': 10.53}, {'connected_gene': 'ENSG00000272578', 'score': 10.45}, {'connected_gene': 'CABIN1', 'score': 9.92}, {'connected_gene': 'ENSG00000234353', 'score': 8.64}, {'connected_gene': 'DRICH1', 'score': 8.38}, {'connected_gene': 'VPREB3', 'score': 6.92}, {'connected_gene': 'ENSG00000273295', 'score': 4.37}]
chr22	GH22I023842	23842786	23843067	0.55	[{'connected_gene': 'DRICH1', 'score': 32.38}, {'connected_gene': 'DERL3', 'score': 9.25}, {'connected_gene': 'GC22P023855', 'score': 0.39}]
chr22	GH22I023620	23620596	23622369	0.81	[{'connected_gene': 'DRICH1', 'score': 84.39}, {'connected_gene': 'ASLP1', 'score': 9.35}, {'connected_gene': 'RSPH14', 'score': 5.58}, {'connected_gene': 'PIR47830', 'score': 0.39}]
chr22	GH22I023590	23590832	23592630	0.87	[{'connected_gene': 'DRICH1', 'score': 4.46}, {'connected_gene': 'ENSG00000272733', 'score': 0.44}, {'connected_gene': 'PIR48511', 'score': 0.44}]
chr22	GH22I023632	23632321	23632380	0.5	[{'connected_gene': 'DRICH1', 'score': 550.44}, {'connected_gene': 'ENSG00000211683', 'score': 0.44}, {'connected_gene': 'PIR47830', 'score': 0.34}]
chr22	GH22I023627	23627600	23627801	0.65	[{'connected_gene': 'DRICH1', 'score': 0.39}, {'connected_gene': 'PIR47830', 'score': 0.37}]
chr22	GH22I023634	23634354	23634441	0.69	[{'connected_gene': 'ASLP1', 'score': 5.93}, {'connected_gene': 'DRICH1', 'score': 0.77}, {'connected_gene': 'ENSG00000211683', 'score': 0.77}, {'connected_gene': 'PIR47830', 'score': 0.34}]
chr22	GH22I023589	23589586	23590294	0.2	[{'connected_gene': 'ASLP1', 'score': 5.03}, {'connected_gene': 'ENSG00000272733', 'score': 0.44}, {'connected_gene': 'PIR48511', 'score': 0.44}, {'connected_gene': 'DRICH1', 'score': 0.25}]
chr22	GH22I023581	23581367	23581513	0.42	[{'connected_gene': 'IGLL1', 'score': 570.13}, {'connected_gene': 'ENSG00000272733', 'score': 0.77}, {'connected_gene': 'DRICH1', 'score': 0.22}]
chr22	GH22I023582	23580734	23580883	0.4	[{'connected_gene': 'IGLL1', 'score': 550.77}, {'connected_gene': 'LINC01658', 'score': 4.91}, {'connected_gene': 'ENSG00000272733', 'score': 0.77}, {'connected_gene': 'DRICH1', 'score': 0.22}]
chr22	GH22I023069	23069603	23072928	2.16	[{'connected_gene': 'GNAZ', 'score': 550.77}, {'connected_gene': 'MIF-AS1', 'score': 31.54}, {'connected_gene': 'DRICH1', 'score': 13.19}, {'connected_gene': 'MMP11', 'score': 12.52}, {'connected_gene': 'ZNF70', 'score': 10.78}, {'connected_gene': 'PIR59232', 'score': 0.31}, {'connected_gene': 'RSPH14', 'score': 0.19}]
chr22	GH22I024010	24010370	24013000	2.28	[{'connected_gene': 'CABIN1', 'score': 550.77}, {'connected_gene': 'ENSG00000272973', 'score': 28.08}, {'connected_gene': 'ZDHHC8P1', 'score': 27.77}, {'connected_gene': 'MIF-AS1', 'score': 21.27}, {'connected_gene': 'SNRPD3', 'score': 19.5}, {'connected_gene': 'SUSD2', 'score': 18.42}, {'connected_gene': 'RN7SL268P', 'score': 17.53}, {'connected_gene': 'GNAZ', 'score': 13.78}, {'connected_gene': 'ZNF70', 'score': 13.63}, {'connected_gene': 'ENSG00000272578', 'score': 12.45}, {'connected_gene': 'SGSM1', 'score': 12.33}, {'connected_gene': 'DRICH1', 'score': 11.23}, {'connected_gene': 'KIAA1671', 'score': 10.12}, {'connected_gene': 'GGT5', 'score': 10.02}, {'connected_gene': 'GSTT2', 'score': 9.97}, {'connected_gene': 'SPECC1L', 'score': 9.86}, {'connected_gene': 'GGTLC4P', 'score': 5.7}, {'connected_gene': 'DDT', 'score': 5.02}, {'connected_gene': 'BCR', 'score': 4.55}, {'connected_gene': 'ENSG00000232545', 'score': 0.16}]
chr22	GH22I023892	23892846	23897532	2.26	[{'connected_gene': 'GC22M026344', 'score': 550.77}, {'connected_gene': 'PIR49022', 'score': 550.77}, {'connected_gene': 'PIR31195', 'score': 550.77}, {'connected_gene': 'PIR31522', 'score': 550.77}, {'connected_gene': 'GC22M026316', 'score': 550.77}, {'connected_gene': 'GC22M026307', 'score': 550.77}, {'connected_gene': 'GC22M026341', 'score': 550.77}, {'connected_gene': 'GC22M026345', 'score': 550.77}, {'connected_gene': 'PIR40684', 'score': 550.77}, {'connected_gene': 'GC22M026296', 'score': 550.77}, {'connected_gene': 'GC22M026308', 'score': 550.77}, {'connected_gene': 'PIR56395', 'score': 550.77}, {'connected_gene': 'PIR39419', 'score': 550.77}, {'connected_gene': 'PIR36143', 'score': 550.77}, {'connected_gene': 'GC22M026298', 'score': 550.77}, {'connected_gene': 'PIR61500', 'score': 550.77}, {'connected_gene': 'PIR33169', 'score': 550.77}, {'connected_gene': 'GC22M026302', 'score': 550.77}, {'connected_gene': 'PIR52226', 'score': 550.77}, {'connected_gene': 'GC22M026363', 'score': 550.77}, {'connected_gene': 'PIR34521', 'score': 550.77}, {'connected_gene': 'PIR41808', 'score': 550.77}, {'connected_gene': 'PIR41420', 'score': 550.77}, {'connected_gene': 'PIR62831', 'score': 550.77}, {'connected_gene': 'PIR31510', 'score': 550.77}, {'connected_gene': 'GC22M026315', 'score': 550.77}, {'connected_gene': 'PIR38026', 'score': 550.77}, {'connected_gene': 'PIR60095', 'score': 550.77}, {'connected_gene': 'GC22M026305', 'score': 550.77}, {'connected_gene': 'PIR61514', 'score': 550.77}, {'connected_gene': 'PIR45928', 'score': 550.77}, {'connected_gene': 'PIR50058', 'score': 550.77}, {'connected_gene': 'PIR57632', 'score': 550.77}, {'connected_gene': 'PIR56604', 'score': 550.77}, {'connected_gene': 'PIR40851', 'score': 550.77}, {'connected_gene': 'MIF', 'score': 550.77}, {'connected_gene': 'PIR60640', 'score': 550.77}, {'connected_gene': 'GC22M026321', 'score': 550.77}, {'connected_gene': 'GC22M026318', 'score': 550.77}, {'connected_gene': 'PIR39268', 'score': 550.77}, {'connected_gene': 'PIR32728', 'score': 550.77}, {'connected_gene': 'GC22M026350', 'score': 550.77}, {'connected_gene': 'PIR35063', 'score': 550.77}, {'connected_gene': 'PIR57880', 'score': 550.77}, {'connected_gene': 'GC22M026376', 'score': 550.77}, {'connected_gene': 'GC22M026364', 'score': 550.77}, {'connected_gene': 'PIR36099', 'score': 550.77}, {'connected_gene': 'PIR45424', 'score': 550.77}, {'connected_gene': 'PIR35225', 'score': 550.77}, {'connected_gene': 'PIR42537', 'score': 550.77}, {'connected_gene': 'PIR31612', 'score': 550.77}, {'connected_gene': 'GC22M026324', 'score': 550.77}, {'connected_gene': 'PIR59582', 'score': 550.77}, {'connected_gene': 'DRICH1', 'score': 20.02}, {'connected_gene': 'MIF-AS1', 'score': 18.61}, {'connected_gene': 'ENSG00000273295', 'score': 16.51}, {'connected_gene': 'ENSG00000272578', 'score': 15.49}, {'connected_gene': 'ENSG00000272973', 'score': 14.71}, {'connected_gene': 'SLC2A11', 'score': 12.77}, {'connected_gene': 'GSTT2B', 'score': 11.94}, {'connected_gene': 'ZDHHC8P1', 'score': 11.91}, {'connected_gene': 'POM121L9P', 'score': 11.39}, {'connected_gene': 'SMARCB1', 'score': 10.84}, {'connected_gene': 'SPECC1L', 'score': 10.24}, {'connected_gene': 'SGSM1', 'score': 9.72}, {'connected_gene': 'GSTT2', 'score': 8.84}, {'connected_gene': 'PIR34648', 'score': 0.77}, {'connected_gene': 'GC22M026340', 'score': 0.77}, {'connected_gene': 'GC22M026367', 'score': 0.77}, {'connected_gene': 'PIR40685', 'score': 0.77}, {'connected_gene': 'PIR34727', 'score': 0.77}, {'connected_gene': 'PIR38517', 'score': 0.77}, {'connected_gene': 'GC22M026320', 'score': 0.77}, {'connected_gene': 'PIR63037', 'score': 0.77}, {'connected_gene': 'PIR40815', 'score': 0.77}, {'connected_gene': 'PIRC109', 'score': 0.37}, {'connected_gene': 'ENSG00000251357', 'score': 0.29}]
chr22	GH22I023907	23907970	23916128	1.79	[{'connected_gene': 'PIR31942', 'score': 550.77}, {'connected_gene': 'PIR40490', 'score': 550.77}, {'connected_gene': 'PIR37167', 'score': 550.77}, {'connected_gene': 'PIR57673', 'score': 550.77}, {'connected_gene': 'GC22M026312', 'score': 550.77}, {'connected_gene': 'GC22M026343', 'score': 550.77}, {'connected_gene': 'PIR60802', 'score': 550.77}, {'connected_gene': 'PIR36565', 'score': 550.77}, {'connected_gene': 'GC22M026322', 'score': 550.77}, {'connected_gene': 'GC22P023911', 'score': 550.77}, {'connected_gene': 'PIR42158', 'score': 550.77}, {'connected_gene': 'PIR43545', 'score': 550.77}, {'connected_gene': 'GC22M026342', 'score': 550.77}, {'connected_gene': 'PIR45468', 'score': 550.77}, {'connected_gene': 'GC22M026295', 'score': 550.77}, {'connected_gene': 'PIR32867', 'score': 550.77}, {'connected_gene': 'GC22M026232', 'score': 550.77}, {'connected_gene': 'PIR36791', 'score': 550.77}, {'connected_gene': 'GC22M026313', 'score': 550.77}, {'connected_gene': 'PIR57185', 'score': 550.77}, {'connected_gene': 'PIR47448', 'score': 550.77}, {'connected_gene': 'PIR31855', 'score': 550.77}, {'connected_gene': 'PIR31874', 'score': 550.77}, {'connected_gene': 'PIR60502', 'score': 550.77}, {'connected_gene': 'PIR45242', 'score': 550.77}, {'connected_gene': 'PIR50952', 'score': 550.77}, {'connected_gene': 'PIR51431', 'score': 550.77}, {'connected_gene': 'ENSG00000273295', 'score': 91.68}, {'connected_gene': 'DRICH1', 'score': 35.68}, {'connected_gene': 'GSTT2B', 'score': 24.35}, {'connected_gene': 'SMARCB1', 'score': 20.0}, {'connected_gene': 'ZDHHC8P1', 'score': 11.64}, {'connected_gene': 'GSTT2', 'score': 11.59}, {'connected_gene': 'ENSG00000272973', 'score': 11.56}, {'connected_gene': 'ENSG00000272578', 'score': 10.3}, {'connected_gene': 'ENSG00000225282', 'score': 5.83}, {'connected_gene': 'FBXW4P1', 'score': 4.76}, {'connected_gene': 'CABIN1', 'score': 1.86}, {'connected_gene': 'PIR37207', 'score': 0.77}, {'connected_gene': 'PIR36583', 'score': 0.77}, {'connected_gene': 'GC22M026326', 'score': 0.77}, {'connected_gene': 'PIR32250', 'score': 0.77}, {'connected_gene': 'GC22M026370', 'score': 0.77}, {'connected_gene': 'PIR44786', 'score': 0.77}, {'connected_gene': 'GC22M026365', 'score': 0.77}, {'connected_gene': 'PIR47318', 'score': 0.77}, {'connected_gene': 'GC22M026375', 'score': 0.77}, {'connected_gene': 'PIR55935', 'score': 0.77}, {'connected_gene': 'PIR31449', 'score': 0.77}, {'connected_gene': 'PIR48394', 'score': 0.77}, {'connected_gene': 'PIR58557', 'score': 0.77}, {'connected_gene': 'GC22M026311', 'score': 0.77}, {'connected_gene': 'PIR55438', 'score': 0.77}, {'connected_gene': 'GC22M026317', 'score': 0.77}, {'connected_gene': 'PIR38461', 'score': 0.77}, {'connected_gene': 'PIRC109', 'score': 0.29}]
chr22	GH22I023684	23684596	23687236	0.76	[{'connected_gene': 'PIR47311', 'score': 550.77}, {'connected_gene': 'ENSG00000234353', 'score': 57.04}, {'connected_gene': 'DRICH1', 'score': 9.42}, {'connected_gene': 'CHCHD10', 'score': 6.5}, {'connected_gene': 'ASLP1', 'score': 6.37}, {'connected_gene': 'RGL4', 'score': 0.77}, {'connected_gene': 'ENSG00000273000', 'score': 0.29}, {'connected_gene': 'GUSBP11', 'score': 0.29}, {'connected_gene': 'ENSG00000272578', 'score': 0.29}]
chr22	GH22I023588	23588408	23589167	0.2	[{'connected_gene': 'ENSG00000272578', 'score': 4.51}, {'connected_gene': 'ENSG00000272733', 'score': 0.77}, {'connected_gene': 'PIR48511', 'score': 0.39}, {'connected_gene': 'DRICH1', 'score': 0.25}]
chr22	GH22I023586	23586986	23588015	0.2	[{'connected_gene': 'ENSG00000272733', 'score': 0.77}, {'connected_gene': 'PIR48511', 'score': 0.39}, {'connected_gene': 'DRICH1', 'score': 0.23}]
chr22	GH22I023674	23674601	23676871	0.95	[{'connected_gene': 'ENSG00000234353', 'score': 52.91}, {'connected_gene': 'CHCHD10', 'score': 10.65}, {'connected_gene': 'MMP11', 'score': 10.65}, {'connected_gene': 'DRICH1', 'score': 10.42}, {'connected_gene': 'ASLP1', 'score': 7.64}, {'connected_gene': 'PIR47311', 'score': 0.44}, {'connected_gene': 'ENSG00000273000', 'score': 0.26}, {'connected_gene': 'GUSBP11', 'score': 0.26}, {'connected_gene': 'ENSG00000272578', 'score': 0.26}]
chr22	GH22I023583	23583783	23584182	0.55	[{'connected_gene': 'ENSG00000272733', 'score': 550.77}, {'connected_gene': 'IGLL1', 'score': 35.0}, {'connected_gene': 'VPREB3', 'score': 4.62}, {'connected_gene': 'ASLP1', 'score': 4.54}, {'connected_gene': 'PIR48511', 'score': 0.37}, {'connected_gene': 'DRICH1', 'score': 0.23}]
chr22	GH22I023742	23742538	23744480	0.52	[{'connected_gene': 'PIR35380', 'score': 550.77}, {'connected_gene': 'GC22M023745', 'score': 550.77}, {'connected_gene': 'ENSG00000234353', 'score': 47.15}, {'connected_gene': 'GSTT2', 'score': 14.07}, {'connected_gene': 'GSTT2B', 'score': 13.78}, {'connected_gene': 'RN7SL268P', 'score': 13.14}, {'connected_gene': 'ENSG00000272973', 'score': 10.29}, {'connected_gene': 'ENSG00000272578', 'score': 7.39}, {'connected_gene': 'DRICH1', 'score': 5.38}, {'connected_gene': 'GC22M023739', 'score': 0.77}, {'connected_gene': 'ZNF70', 'score': 0.44}]
chr22	GH22I023692	23692056	23698310	0.85	[{'connected_gene': 'ENSG00000234353', 'score': 53.49}, {'connected_gene': 'C22orf15', 'score': 11.31}, {'connected_gene': 'CHCHD10', 'score': 11.24}, {'connected_gene': 'MMP11', 'score': 11.24}, {'connected_gene': 'VPREB3', 'score': 10.94}, {'connected_gene': 'ZNF70', 'score': 10.94}, {'connected_gene': 'SMARCB1', 'score': 10.93}, {'connected_gene': 'ENSG00000251357', 'score': 10.47}, {'connected_gene': 'SLC2A11', 'score': 10.46}, {'connected_gene': 'RN7SL268P', 'score': 10.46}, {'connected_gene': 'MIF', 'score': 10.45}, {'connected_gene': 'MIF-AS1', 'score': 10.45}, {'connected_gene': 'DRICH1', 'score': 8.94}, {'connected_gene': 'ASLP1', 'score': 8.82}, {'connected_gene': 'ENSG00000272578', 'score': 6.87}, {'connected_gene': 'RGL4', 'score': 0.44}, {'connected_gene': 'ENSG00000273000', 'score': 0.34}, {'connected_gene': 'GUSBP11', 'score': 0.34}]