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
ENST00000258975	[[61678230, 61678722], [61681893, 61682000], [61683672, 61683800], [61684646, 61684824], [61685161, 61685725]]	[[61678442, 61678722], [61681893, 61682000], [61683672, 61683800], [61684646, 61684824], [61685161, 61685362]]
ENST00000581120	[[61678240, 61678722], [61681893, 61682000], [61683672, 61684824], [61685161, 61685724]]	None
NM_016360	[[61678230, 61678722], [61681893, 61682000], [61683672, 61683800], [61684646, 61684824], [61685161, 61685725]]	[[61678442, 61678722], [61681893, 61682000], [61683672, 61683800], [61684646, 61684824], [61685161, 61685362]]

Promoter

Chrom	Start	End	Description
chr17	61678225	61678260	CAGE_peak_1_at_TACO1_5end
chr17	61678272	61678291	CAGE_peak_2_at_TACO1_5end
chr17	61678318	61678329	CAGE_peak_3_at_TACO1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I063664	63664756	63666583	0.94	[{'connected_gene': 'LIMD2', 'score': 12.48}, {'connected_gene': 'TACO1', 'score': 11.06}, {'connected_gene': 'STRADA', 'score': 10.77}, {'connected_gene': 'ENSG00000125695', 'score': 10.75}, {'connected_gene': 'SMARCD2', 'score': 10.55}, {'connected_gene': 'PSMC5', 'score': 4.09}, {'connected_gene': 'LOC101927898', 'score': 0.31}, {'connected_gene': 'EEF1DP7', 'score': 0.31}, {'connected_gene': 'MAP3K3', 'score': 0.26}]
chr17	GH17I063679	63679790	63680834	0.43	[{'connected_gene': 'SMARCD2', 'score': 28.07}, {'connected_gene': 'FTSJ3', 'score': 26.74}, {'connected_gene': 'DDX5', 'score': 17.03}, {'connected_gene': 'POLG2', 'score': 14.4}, {'connected_gene': 'ENSG00000281311', 'score': 14.1}, {'connected_gene': 'DDX42', 'score': 13.4}, {'connected_gene': 'CEP95', 'score': 13.1}, {'connected_gene': 'ERN1', 'score': 11.37}, {'connected_gene': 'PSMC5', 'score': 10.52}, {'connected_gene': 'TACO1', 'score': 10.44}, {'connected_gene': 'LOC101927898', 'score': 0.39}, {'connected_gene': 'EEF1DP7', 'score': 0.26}, {'connected_gene': 'MAP3K3', 'score': 0.22}]
chr17	GH17I063600	63600030	63602522	2.15	[{'connected_gene': 'TACO1', 'score': 550.77}, {'connected_gene': 'DDX42', 'score': 46.41}, {'connected_gene': 'CEP95', 'score': 46.16}, {'connected_gene': 'FTSJ3', 'score': 42.55}, {'connected_gene': 'POLG2', 'score': 41.9}, {'connected_gene': 'DDX5', 'score': 32.07}, {'connected_gene': 'SMARCD2', 'score': 25.15}, {'connected_gene': 'DCAF7', 'score': 21.92}, {'connected_gene': 'ENSG00000281311', 'score': 20.59}, {'connected_gene': 'RNU6-288P', 'score': 11.41}, {'connected_gene': 'EEF1DP7', 'score': 11.26}, {'connected_gene': 'LIMD2', 'score': 10.71}, {'connected_gene': 'MAP3K3', 'score': 10.44}, {'connected_gene': 'CYB561', 'score': 10.34}, {'connected_gene': 'TCAM1P', 'score': 9.88}, {'connected_gene': 'GC17M063602', 'score': 0.44}]
chr17	GH17I063579	63579286	63580510	0.82	[{'connected_gene': 'TACO1', 'score': 12.1}, {'connected_gene': 'DCAF7', 'score': 11.65}, {'connected_gene': 'CYB561', 'score': 11.3}, {'connected_gene': 'ACE', 'score': 11.13}, {'connected_gene': 'PPIAP55', 'score': 11.13}, {'connected_gene': 'GC17M063574', 'score': 0.44}, {'connected_gene': 'RNU6-288P', 'score': 0.44}, {'connected_gene': 'PIR51747', 'score': 0.39}]
chr17	GH17I063419	63419687	63421301	1.07	[{'connected_gene': 'PPIAP55', 'score': 11.85}, {'connected_gene': 'ACE', 'score': 11.84}, {'connected_gene': 'CYB561', 'score': 11.75}, {'connected_gene': 'TACO1', 'score': 10.87}, {'connected_gene': 'LOC105371856', 'score': 0.44}, {'connected_gene': 'ENSG00000263644', 'score': 0.39}, {'connected_gene': 'GC17M063420', 'score': 0.34}, {'connected_gene': 'TANC2', 'score': 0.05}]
chr17	GH17I063427	63427916	63428743	1	[{'connected_gene': 'CYB561', 'score': 28.09}, {'connected_gene': 'PPIAP55', 'score': 12.28}, {'connected_gene': 'ACE', 'score': 12.27}, {'connected_gene': 'TACO1', 'score': 11.82}, {'connected_gene': 'ENSG00000263644', 'score': 0.77}, {'connected_gene': 'LOC105371856', 'score': 0.39}, {'connected_gene': 'GC17M063420', 'score': 0.37}]
chr17	GH17I063425	63425520	63425669	0.83	[{'connected_gene': 'CYB561', 'score': 13.03}, {'connected_gene': 'PPIAP55', 'score': 12.21}, {'connected_gene': 'ACE', 'score': 12.2}, {'connected_gene': 'TACO1', 'score': 11.35}, {'connected_gene': 'DCAF7', 'score': 10.8}, {'connected_gene': 'ENSG00000263644', 'score': 0.44}, {'connected_gene': 'LOC105371856', 'score': 0.39}, {'connected_gene': 'GC17M063420', 'score': 0.37}, {'connected_gene': 'TANC2', 'score': 0.05}]
chr17	GH17I063423	63423401	63423800	0.58	[{'connected_gene': 'CYB561', 'score': 13.03}, {'connected_gene': 'PPIAP55', 'score': 12.21}, {'connected_gene': 'ACE', 'score': 12.2}, {'connected_gene': 'TACO1', 'score': 11.35}, {'connected_gene': 'DCAF7', 'score': 10.81}, {'connected_gene': 'ENSG00000265971', 'score': 4.67}, {'connected_gene': 'ENSG00000263644', 'score': 0.44}, {'connected_gene': 'LOC105371856', 'score': 0.44}, {'connected_gene': 'GC17M063420', 'score': 0.37}, {'connected_gene': 'TANC2', 'score': 0.05}]
chr17	GH17I063431	63431250	63437805	2.21	[{'connected_gene': 'CYB561', 'score': 573.03}, {'connected_gene': 'DDX42', 'score': 18.1}, {'connected_gene': 'FTSJ3', 'score': 13.18}, {'connected_gene': 'PPIAP55', 'score': 12.3}, {'connected_gene': 'ACE', 'score': 12.28}, {'connected_gene': 'TACO1', 'score': 11.82}, {'connected_gene': 'ENSG00000281311', 'score': 11.53}, {'connected_gene': 'SMARCD2', 'score': 1.59}, {'connected_gene': 'ENSG00000265282', 'score': 0.77}, {'connected_gene': 'PIR45110', 'score': 0.77}, {'connected_gene': 'GC17M063420', 'score': 0.44}]
chr17	GH17I063641	63641401	63642600	0.83	[{'connected_gene': 'FTSJ3', 'score': 15.99}, {'connected_gene': 'LIMD2', 'score': 12.1}, {'connected_gene': 'TACO1', 'score': 11.72}, {'connected_gene': 'RNU6-288P', 'score': 11.02}, {'connected_gene': 'EEF1DP7', 'score': 0.44}, {'connected_gene': 'MAP3K3', 'score': 0.37}, {'connected_gene': 'LOC101927898', 'score': 0.25}]
chr17	GH17I063674	63674232	63677730	1.75	[{'connected_gene': 'FTSJ3', 'score': 30.14}, {'connected_gene': 'SMARCD2', 'score': 17.69}, {'connected_gene': 'DDX5', 'score': 17.03}, {'connected_gene': 'POLG2', 'score': 14.4}, {'connected_gene': 'ENSG00000281311', 'score': 14.1}, {'connected_gene': 'DDX42', 'score': 13.39}, {'connected_gene': 'CEP95', 'score': 13.1}, {'connected_gene': 'LIMD2', 'score': 13.06}, {'connected_gene': 'ERN1', 'score': 11.37}, {'connected_gene': 'STRADA', 'score': 11.21}, {'connected_gene': 'ENSG00000125695', 'score': 11.19}, {'connected_gene': 'TACO1', 'score': 10.62}, {'connected_gene': 'LOC101927898', 'score': 0.37}, {'connected_gene': 'EEF1DP7', 'score': 0.28}, {'connected_gene': 'MAP3K3', 'score': 0.23}]
chr17	GH17I063704	63704861	63708618	0.58	[{'connected_gene': 'FTSJ3', 'score': 74.98}, {'connected_gene': 'CSH2', 'score': 18.1}, {'connected_gene': 'STRADA', 'score': 12.37}, {'connected_gene': 'ENSG00000125695', 'score': 12.34}, {'connected_gene': 'PSMC5', 'score': 11.01}, {'connected_gene': 'TACO1', 'score': 10.92}, {'connected_gene': 'LIMD2', 'score': 0.77}, {'connected_gene': 'PIR56154', 'score': 0.77}]
chr17	GH17I063549	63549057	63552943	2.35	[{'connected_gene': 'DCAF7', 'score': 555.71}, {'connected_gene': 'FTSJ3', 'score': 52.71}, {'connected_gene': 'DDX42', 'score': 38.63}, {'connected_gene': 'POLG2', 'score': 36.62}, {'connected_gene': 'CEP95', 'score': 34.75}, {'connected_gene': 'RNU6-288P', 'score': 12.05}, {'connected_gene': 'TACO1', 'score': 11.62}, {'connected_gene': 'CYB561', 'score': 11.33}, {'connected_gene': 'ACE', 'score': 11.19}, {'connected_gene': 'PPIAP55', 'score': 11.18}, {'connected_gene': 'DDX5', 'score': 10.55}, {'connected_gene': 'SMARCD2', 'score': 10.53}, {'connected_gene': 'GC17P063567', 'score': 0.37}]
chr17	GH17I063633	63633587	63635030	1.09	[{'connected_gene': 'GC17M063634', 'score': 550.77}, {'connected_gene': 'TACO1', 'score': 11.63}, {'connected_gene': 'MAP3K3', 'score': 0.39}]
chr17	GH17I063484	63484840	63484942	1.1	[{'connected_gene': 'ENSG00000264813', 'score': 550.77}, {'connected_gene': 'ACE', 'score': 550.44}, {'connected_gene': 'CYB561', 'score': 11.97}, {'connected_gene': 'DCAF7', 'score': 11.34}, {'connected_gene': 'TACO1', 'score': 11.2}, {'connected_gene': 'ACE3P', 'score': 0.34}]
chr17	GH17I063571	63571721	63572589	1	[{'connected_gene': 'GC17M063574', 'score': 550.77}, {'connected_gene': 'RNU6-288P', 'score': 550.77}, {'connected_gene': 'DCAF7', 'score': 11.92}, {'connected_gene': 'TACO1', 'score': 10.91}, {'connected_gene': 'CYB561', 'score': 10.47}, {'connected_gene': 'GC17M063565', 'score': 0.77}]