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
ENST00000464950	[[54317391, 54317943], [54320673, 54320724], [54325728, 54325826], [54331872, 54332055], [54332430, 54332597], [54337044, 54337161], [54343987, 54344075], [54344314, 54344395], [54348785, 54348949], [54354579, 54354659], [54355385, 54355406]]	[[54325736, 54325826], [54331872, 54332055], [54332430, 54332597], [54337044, 54337161], [54343987, 54344075], [54344314, 54344395], [54348785, 54348949], [54354579, 54354610]]
ENST00000371399	[[54317405, 54317943], [54325728, 54325826], [54331872, 54332055], [54332430, 54332597], [54337044, 54337161], [54343987, 54344075], [54344314, 54344395], [54348785, 54348949], [54355385, 54355452]]	[[54325736, 54325826], [54331872, 54332055], [54332430, 54332529]]
ENST00000072644	[[54317406, 54317943], [54325728, 54325826], [54331872, 54332055], [54332430, 54332597], [54337044, 54337161], [54343987, 54344075], [54344314, 54344395], [54348785, 54348949], [54354579, 54354659], [54354916, 54355136], [54355385, 54355453]]	[[54325736, 54325826], [54331872, 54332055], [54332430, 54332597], [54337044, 54337161], [54343987, 54344075], [54344314, 54344395], [54348785, 54348949], [54354579, 54354610]]
ENST00000539954	[[54320690, 54320724], [54325728, 54325826], [54331872, 54332055], [54332430, 54332597], [54337044, 54337161], [54343987, 54344075], [54344314, 54344395], [54348785, 54348949], [54354579, 54354659], [54356223, 54356407]]	[[54325736, 54325826], [54331872, 54332055], [54332430, 54332597], [54337044, 54337161], [54343987, 54344075], [54344314, 54344395], [54348785, 54348949], [54354579, 54354659], [54356223, 54356249]]
ENST00000469457	[[54331867, 54332055], [54332430, 54332597], [54337044, 54337161], [54343987, 54344075], [54344314, 54344395], [54354579, 54354659], [54354916, 54355136], [54355385, 54355453]]	None
ENST00000480151	[[54331873, 54332055], [54332430, 54332597], [54337044, 54337161], [54343987, 54344075], [54344314, 54344395], [54348785, 54348949], [54352339, 54352394], [54355385, 54355471]]	None
ENST00000412288	[[54332427, 54332597], [54337044, 54337161], [54343987, 54344075], [54344314, 54344395], [54348785, 54348949], [54354579, 54354659], [54354916, 54355136], [54355385, 54355507]]	[[54332427, 54332597], [54337044, 54337161], [54343987, 54344075], [54344314, 54344395], [54348785, 54348949], [54354579, 54354610]]
ENST00000465897	[[54332476, 54332597], [54337044, 54337161], [54343987, 54344075], [54344314, 54344395], [54348615, 54348704], [54348785, 54348949], [54354579, 54354659], [54355385, 54355453]]	None
ENST00000472983	[[54343994, 54344075], [54344314, 54344395], [54348615, 54348704], [54348785, 54348949], [54354579, 54354659], [54354916, 54355136], [54355385, 54355462]]	None
NR_036639	[[54317391, 54317943], [54320673, 54320724], [54325728, 54325826], [54331872, 54332055], [54332430, 54332597], [54337044, 54337161], [54343987, 54344075], [54344314, 54344395], [54348785, 54348949], [54354579, 54354659], [54354916, 54355136], [54355385, 54355487]]	None
NM_018982	[[54317391, 54317943], [54325728, 54325826], [54331872, 54332055], [54332430, 54332597], [54337044, 54337161], [54343987, 54344075], [54344314, 54344395], [54348785, 54348949], [54354579, 54354659], [54354916, 54355136], [54355385, 54355487]]	[[54325736, 54325826], [54331872, 54332055], [54332430, 54332597], [54337044, 54337161], [54343987, 54344075], [54344314, 54344395], [54348785, 54348949], [54354579, 54354610]]
NR_036640	[[54317391, 54317943], [54320673, 54320724], [54325728, 54325826], [54331872, 54332055], [54332430, 54332597], [54337044, 54337161], [54343987, 54344075], [54344314, 54344395], [54348785, 54348949], [54354579, 54354659], [54355385, 54355487]]	None
NR_135075	[[54317391, 54317943], [54325728, 54325826], [54331872, 54332055], [54332430, 54332597], [54337044, 54337161], [54343987, 54344075], [54344314, 54344395], [54348785, 54348949], [54355385, 54355504]]	None

Promoter

Chrom	Start	End	Description
chr1	54355418	54355429	CAGE_peak_2_at_YIPF1_5end
chr1	54355430	54355495	CAGE_peak_1_at_YIPF1_5end
chr1	54355705	54355732	CAGE_peak_3_at_YIPF1_5end
chr1	54356404	54356408	CAGE_peak_5_at_YIPF1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I053835	53835064	53839200	2.12	[{'connected_gene': 'NDC1', 'score': 563.15}, {'connected_gene': 'MAGOH', 'score': 45.35}, {'connected_gene': 'SSBP3-AS1', 'score': 36.53}, {'connected_gene': 'HSPB11', 'score': 33.21}, {'connected_gene': 'LRRC42', 'score': 21.47}, {'connected_gene': 'ECHDC2', 'score': 18.27}, {'connected_gene': 'ENSG00000256407', 'score': 12.79}, {'connected_gene': 'CYB5RL', 'score': 12.55}, {'connected_gene': 'C1orf123', 'score': 10.3}, {'connected_gene': 'ENSG00000279049', 'score': 9.9}, {'connected_gene': 'ENSG00000230953', 'score': 9.82}, {'connected_gene': 'TTC4', 'score': 9.72}, {'connected_gene': 'TMEM59', 'score': 9.67}, {'connected_gene': 'TCEANC2', 'score': 9.67}, {'connected_gene': 'ENSG00000237453', 'score': 9.09}, {'connected_gene': 'TTC22', 'score': 9.09}, {'connected_gene': 'YIPF1', 'score': 6.06}, {'connected_gene': 'LRP8', 'score': 4.73}, {'connected_gene': 'ENSG00000201003', 'score': 0.2}, {'connected_gene': 'GC01M053772', 'score': 0.2}]
chr1	GH01I054249	54247962	54248120	0.55	[{'connected_gene': 'YIPF1', 'score': 1.96}, {'connected_gene': 'SSBP3-AS1', 'score': 0.39}, {'connected_gene': 'GC01P054263', 'score': 0.37}, {'connected_gene': 'SSBP3', 'score': 0.1}]
chr1	GH01I054231	54231144	54231341	1.22	[{'connected_gene': 'YIPF1', 'score': 3.34}, {'connected_gene': 'GC01P054226', 'score': 0.77}, {'connected_gene': 'SSBP3-AS1', 'score': 0.44}, {'connected_gene': 'SSBP3', 'score': 0.09}]
chr1	GH01I053918	53918492	53919545	0.75	[{'connected_gene': 'HSPB11', 'score': 22.51}, {'connected_gene': 'LRRC42', 'score': 12.45}, {'connected_gene': 'DIO1', 'score': 12.38}, {'connected_gene': 'YIPF1', 'score': 12.38}, {'connected_gene': 'RPL37P7', 'score': 10.71}, {'connected_gene': 'NDC1', 'score': 10.71}, {'connected_gene': 'LDLRAD1', 'score': 10.02}, {'connected_gene': 'RNU7-95P', 'score': 8.74}, {'connected_gene': 'GC01P053910', 'score': 0.44}, {'connected_gene': 'GC01P053939', 'score': 0.34}]
chr1	GH01I053765	53765278	53767582	0.82	[{'connected_gene': 'GLIS1', 'score': 10.2}, {'connected_gene': 'NDC1', 'score': 9.91}, {'connected_gene': 'RPL37P7', 'score': 9.9}, {'connected_gene': 'LRRC42', 'score': 9.58}, {'connected_gene': 'HSPB11', 'score': 9.58}, {'connected_gene': 'YIPF1', 'score': 4.92}, {'connected_gene': 'ENSG00000201003', 'score': 0.77}, {'connected_gene': 'GC01M053772', 'score': 0.77}]
chr1	GH01I053981	53981801	53983417	1.06	[{'connected_gene': 'TCEANC2', 'score': 18.24}, {'connected_gene': 'LRRC42', 'score': 11.76}, {'connected_gene': 'HSPB11', 'score': 11.76}, {'connected_gene': 'LDLRAD1', 'score': 11.7}, {'connected_gene': 'DIO1', 'score': 11.06}, {'connected_gene': 'YIPF1', 'score': 11.06}, {'connected_gene': 'TMEM59', 'score': 10.5}, {'connected_gene': 'HNRNPA3P12', 'score': 0.44}, {'connected_gene': 'GC01P054015', 'score': 0.29}]
chr1	GH01I053860	53860988	53861137	0.69	[{'connected_gene': 'LRRC42', 'score': 11.94}, {'connected_gene': 'HSPB11', 'score': 11.94}, {'connected_gene': 'YIPF1', 'score': 11.58}, {'connected_gene': 'DIO1', 'score': 11.56}, {'connected_gene': 'RPL37P7', 'score': 0.37}, {'connected_gene': 'GC01P053890', 'score': 0.31}]
chr1	GH01I053889	53889000	53890988	2.05	[{'connected_gene': 'DIO1', 'score': 565.53}, {'connected_gene': 'YIPF1', 'score': 555.86}, {'connected_gene': 'GC01P053890', 'score': 550.77}, {'connected_gene': 'MAGOH', 'score': 24.54}, {'connected_gene': 'SSBP3-AS1', 'score': 20.84}, {'connected_gene': 'ENSG00000279049', 'score': 11.25}, {'connected_gene': 'LRRC42', 'score': 11.09}, {'connected_gene': 'HSPB11', 'score': 10.83}, {'connected_gene': 'CYB5RL', 'score': 10.46}, {'connected_gene': 'ENSG00000230953', 'score': 10.31}]
chr1	GH01I053892	53892160	53893516	0.84	[{'connected_gene': 'DIO1', 'score': 566.14}, {'connected_gene': 'YIPF1', 'score': 8.56}, {'connected_gene': 'ENSG00000230953', 'score': 4.17}, {'connected_gene': 'GC01P053910', 'score': 0.37}]
chr1	GH01I053910	53910048	53910197	0.69	[{'connected_gene': 'GC01P053910', 'score': 550.77}, {'connected_gene': 'YIPF1', 'score': 13.23}, {'connected_gene': 'LRRC42', 'score': 11.67}, {'connected_gene': 'HSPB11', 'score': 11.67}, {'connected_gene': 'RPL37P7', 'score': 10.95}, {'connected_gene': 'NDC1', 'score': 10.94}, {'connected_gene': 'LDLRAD1', 'score': 10.3}, {'connected_gene': 'TCEANC2', 'score': 9.84}, {'connected_gene': 'TMEM59', 'score': 9.84}, {'connected_gene': 'RNU7-95P', 'score': 8.6}, {'connected_gene': 'DIO1', 'score': 0.37}]
chr1	GH01I053971	53971471	53972549	0.2	[{'connected_gene': 'GC01M053970', 'score': 550.77}, {'connected_gene': 'LRRC42', 'score': 12.8}, {'connected_gene': 'HSPB11', 'score': 12.8}, {'connected_gene': 'LDLRAD1', 'score': 11.83}, {'connected_gene': 'NDC1', 'score': 11.06}, {'connected_gene': 'RPL37P7', 'score': 11.06}, {'connected_gene': 'DIO1', 'score': 11.01}, {'connected_gene': 'YIPF1', 'score': 11.01}, {'connected_gene': 'TCEANC2', 'score': 8.59}, {'connected_gene': 'HNRNPA3P12', 'score': 0.77}]
chr1	GH01I053891	53891128	53891277	0.65	[{'connected_gene': 'GC01P053890', 'score': 550.77}, {'connected_gene': 'DIO1', 'score': 550.77}, {'connected_gene': 'YIPF1', 'score': 550.77}]