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
ENST00000415355	[[25100159, 25100420], [25101063, 25101324], [25101529, 25101665], [25102120, 25102281], [25103311, 25103415]]	[[25100276, 25100420], [25101063, 25101324], [25101529, 25101665], [25102120, 25102281], [25103311, 25103317]]
ENST00000216341	[[25100159, 25100420], [25101063, 25101324], [25101529, 25101665], [25102120, 25102268], [25103311, 25103473]]	[[25100276, 25100420], [25101063, 25101324], [25101529, 25101665], [25102120, 25102268], [25103311, 25103366]]
ENST00000382542	[[25100176, 25100420], [25101063, 25101324], [25101529, 25101665], [25102120, 25102268], [25103311, 25103473]]	[[25100276, 25100420], [25101063, 25101324], [25101529, 25101665], [25102120, 25102268], [25103311, 25103468]]
ENST00000382540	[[25100176, 25100420], [25101063, 25101324], [25101924, 25101925], [25102120, 25102268], [25103311, 25103473]]	[[25100276, 25100420], [25101063, 25101324], [25101924, 25101925], [25102120, 25102268], [25103311, 25103366]]
ENST00000532263	[[25100219, 25100420], [25101063, 25101324], [25103311, 25103366]]	[[25101271, 25101324], [25103311, 25103366]]
ENST00000554242	[[25100219, 25100420], [25101063, 25101324], [25102120, 25102268], [25103311, 25103366]]	[[25101254, 25101324], [25102120, 25102268], [25103311, 25103366]]
ENST00000530830	[[25100369, 25100420], [25101063, 25101324], [25101529, 25101665], [25102120, 25102268], [25103115, 25103222], [25103311, 25103380]]	[[25102246, 25102268], [25103115, 25103222], [25103311, 25103317]]
ENST00000526004	[[25100744, 25101324], [25102120, 25102268], [25103311, 25103402]]	[[25101254, 25101324], [25102120, 25102268], [25103311, 25103366]]
NM_001346011	[[25100159, 25100420], [25101063, 25101324], [25101529, 25101665], [25102120, 25102281], [25103311, 25103475]]	[[25100276, 25100420], [25101063, 25101324], [25101529, 25101665], [25102120, 25102281], [25103311, 25103317]]
NM_004131	[[25100159, 25100420], [25101063, 25101324], [25101529, 25101665], [25102120, 25102268], [25103311, 25103475]]	[[25100276, 25100420], [25101063, 25101324], [25101529, 25101665], [25102120, 25102268], [25103311, 25103366]]
NR_144343	[[25100159, 25100420], [25101063, 25101324], [25102120, 25102268], [25103311, 25103475]]	None

Promoter

Chrom	Start	End	Description
chr14	25103388	25103402	CAGE_peak_1_at_GZMB_5end
chr14	25103431	25103449	CAGE_peak_2_at_GZMB_5end
chr14	25103472	25103483	CAGE_peak_3_at_GZMB_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I024630	24630276	24634775	1.32	[{'connected_gene': 'GZMB', 'score': 550.77}, {'connected_gene': 'CBLN3', 'score': 5.79}, {'connected_gene': 'GZMH', 'score': 0.34}, {'connected_gene': 'ENSG00000258657', 'score': 0.28}]
chr14	GH14I024672	24672683	24675617	1.38	[{'connected_gene': 'GZMB', 'score': 34.53}, {'connected_gene': 'GZMH', 'score': 22.99}, {'connected_gene': 'CTSG', 'score': 18.44}, {'connected_gene': 'STXBP6', 'score': 9.7}, {'connected_gene': 'CMA1', 'score': 2.99}, {'connected_gene': 'CIDEB', 'score': 2.34}, {'connected_gene': 'LTB4R', 'score': 2.31}, {'connected_gene': 'RIPK3', 'score': 2.02}, {'connected_gene': 'TINF2', 'score': 1.81}, {'connected_gene': 'KHNYN', 'score': 1.65}, {'connected_gene': 'SDR39U1', 'score': 1.39}, {'connected_gene': 'LOC105370413', 'score': 0.28}, {'connected_gene': 'PIR50915', 'score': 0.21}]
chr14	GH14I024670	24670867	24671244	0.48	[{'connected_gene': 'GZMB', 'score': 30.63}, {'connected_gene': 'GZMH', 'score': 11.67}, {'connected_gene': 'CTSG', 'score': 7.7}, {'connected_gene': 'CMA1', 'score': 2.83}, {'connected_gene': 'LOC105370413', 'score': 0.29}, {'connected_gene': 'PIR50915', 'score': 0.21}]
chr14	GH14I024660	24660315	24660600	0.63	[{'connected_gene': 'GZMB', 'score': 12.39}, {'connected_gene': 'GZMH', 'score': 11.12}, {'connected_gene': 'CTSG', 'score': 10.37}, {'connected_gene': 'LOC105370413', 'score': 0.34}, {'connected_gene': 'PIR50915', 'score': 0.19}]
chr14	GH14I024611	24611781	24614178	0.69	[{'connected_gene': 'GZMB', 'score': 12.09}, {'connected_gene': 'CTSG', 'score': 10.48}, {'connected_gene': 'ENSG00000258744', 'score': 6.1}, {'connected_gene': 'CBLN3', 'score': 5.61}, {'connected_gene': 'GZMH', 'score': 0.77}, {'connected_gene': 'ENSG00000258657', 'score': 0.37}]
chr14	GH14I024662	24662785	24663178	0.44	[{'connected_gene': 'GZMB', 'score': 12.39}, {'connected_gene': 'CTSG', 'score': 11.93}, {'connected_gene': 'GZMH', 'score': 11.12}, {'connected_gene': 'LTB4R', 'score': 4.47}, {'connected_gene': 'LOC105370413', 'score': 0.34}, {'connected_gene': 'PIR50915', 'score': 0.19}]
chr14	GH14I024608	24607215	24607364	0.58	[{'connected_gene': 'GZMB', 'score': 11.27}, {'connected_gene': 'CTSG', 'score': 11.19}, {'connected_gene': 'GZMH', 'score': 0.77}, {'connected_gene': 'PIR56771', 'score': 0.44}, {'connected_gene': 'ENSG00000258657', 'score': 0.39}]
chr14	GH14I024606	24605515	24605664	0.69	[{'connected_gene': 'GZMB', 'score': 11.27}, {'connected_gene': 'CTSG', 'score': 11.21}, {'connected_gene': 'GZMH', 'score': 0.77}, {'connected_gene': 'PIR56771', 'score': 0.77}, {'connected_gene': 'ENSG00000258657', 'score': 0.44}]
chr14	GH14I024605	24605676	24606538	0.66	[{'connected_gene': 'GZMB', 'score': 11.27}, {'connected_gene': 'CTSG', 'score': 11.21}, {'connected_gene': 'CMA1', 'score': 6.85}, {'connected_gene': 'ENSG00000258744', 'score': 5.13}, {'connected_gene': 'GZMH', 'score': 0.77}, {'connected_gene': 'PIR56771', 'score': 0.77}, {'connected_gene': 'ENSG00000258657', 'score': 0.39}]
chr14	GH14I024664	24664966	24666227	0.84	[{'connected_gene': 'GZMB', 'score': 11.13}, {'connected_gene': 'LOC105370413', 'score': 0.31}, {'connected_gene': 'PIR50915', 'score': 0.2}]
chr14	GH14I024665	24664495	24664644	0.2	[{'connected_gene': 'GZMB', 'score': 11.13}, {'connected_gene': 'LOC105370413', 'score': 0.31}, {'connected_gene': 'PIR50915', 'score': 0.2}]
chr14	GH14I024677	24677771	24681743	1.6	[{'connected_gene': 'GZMH', 'score': 40.28}, {'connected_gene': 'GZMB', 'score': 17.15}, {'connected_gene': 'STXBP6', 'score': 9.71}, {'connected_gene': 'CTSG', 'score': 2.42}, {'connected_gene': 'CIDEB', 'score': 1.78}, {'connected_gene': 'KHNYN', 'score': 1.59}, {'connected_gene': 'CMA1', 'score': 1.39}, {'connected_gene': 'RIPK3', 'score': 1.13}, {'connected_gene': 'LOC105370413', 'score': 0.26}, {'connected_gene': 'PIR50915', 'score': 0.23}]
chr14	GH14I024607	24607735	24611441	1.22	[{'connected_gene': 'GZMH', 'score': 550.77}, {'connected_gene': 'GZMB', 'score': 11.63}, {'connected_gene': 'CTSG', 'score': 11.19}, {'connected_gene': 'CMA1', 'score': 7.58}, {'connected_gene': 'ENSG00000258744', 'score': 4.91}, {'connected_gene': 'KHNYN', 'score': 4.37}, {'connected_gene': 'PIR56771', 'score': 0.44}, {'connected_gene': 'ENSG00000258657', 'score': 0.39}]
chr14	GH14I024879	24879692	24882145	0.46	[{'connected_gene': 'STXBP6', 'score': 9.79}, {'connected_gene': 'GZMB', 'score': 9.58}, {'connected_gene': 'PIR50915', 'score': 0.11}]
chr14	GH14I024504	24504578	24504950	0.22	[{'connected_gene': 'CTSG', 'score': 18.52}, {'connected_gene': 'GZMB', 'score': 16.69}, {'connected_gene': 'CMA1', 'score': 10.2}, {'connected_gene': 'ENSG00000258744', 'score': 8.99}, {'connected_gene': 'SDR39U1', 'score': 8.97}]
chr14	GH14I024535	24535810	24536018	0.43	[{'connected_gene': 'CTSG', 'score': 21.87}, {'connected_gene': 'GZMB', 'score': 12.81}, {'connected_gene': 'ENSG00000258744', 'score': 5.93}, {'connected_gene': 'CMA1', 'score': 5.69}, {'connected_gene': 'RIPK3', 'score': 1.38}, {'connected_gene': 'TINF2', 'score': 1.27}]
chr14	GH14I024570	24570733	24571277	0.26	[{'connected_gene': 'CTSG', 'score': 27.4}, {'connected_gene': 'GZMB', 'score': 10.51}, {'connected_gene': 'CMA1', 'score': 10.18}]
chr14	GH14I024512	24512529	24512828	0.22	[{'connected_gene': 'CTSG', 'score': 13.91}, {'connected_gene': 'GZMB', 'score': 8.6}, {'connected_gene': 'ENSG00000258744', 'score': 5.92}, {'connected_gene': 'CMA1', 'score': 3.96}]
chr14	GH14I024517	24517762	24517995	0.38	[{'connected_gene': 'CTSG', 'score': 23.7}, {'connected_gene': 'CMA1', 'score': 19.84}, {'connected_gene': 'GZMB', 'score': 14.43}, {'connected_gene': 'ENSG00000258744', 'score': 8.63}]
chr14	GH14I024626	24626253	24628779	0.38	[{'connected_gene': 'CMA1', 'score': 7.6}, {'connected_gene': 'KHNYN', 'score': 5.69}, {'connected_gene': 'ENSG00000258744', 'score': 5.64}, {'connected_gene': 'GZMB', 'score': 0.44}, {'connected_gene': 'GZMH', 'score': 0.37}, {'connected_gene': 'ENSG00000258657', 'score': 0.29}]
chr14	GH14I024995	24995199	24995598	0.28	[{'connected_gene': 'CMA1', 'score': 29.36}, {'connected_gene': 'CTSG', 'score': 26.78}, {'connected_gene': 'STXBP6', 'score': 6.89}, {'connected_gene': 'GZMB', 'score': 2.51}, {'connected_gene': 'PIR50915', 'score': 0.07}]
chr14	GH14I024692	24692683	24696159	1.45	[{'connected_gene': 'RNA5SP383', 'score': 23.98}, {'connected_gene': 'GZMB', 'score': 23.46}, {'connected_gene': 'KHNYN', 'score': 21.87}, {'connected_gene': 'ENSG00000259321', 'score': 19.13}, {'connected_gene': 'TM9SF1', 'score': 14.38}, {'connected_gene': 'RNF31', 'score': 14.03}, {'connected_gene': 'CIDEB', 'score': 12.99}, {'connected_gene': 'TINF2', 'score': 12.97}, {'connected_gene': 'NYNRIN', 'score': 10.04}, {'connected_gene': 'NFATC4', 'score': 10.03}, {'connected_gene': 'CTSG', 'score': 7.83}, {'connected_gene': 'CMA1', 'score': 3.41}, {'connected_gene': 'LTB4R', 'score': 1.7}, {'connected_gene': 'PIR50915', 'score': 0.28}, {'connected_gene': 'LOC105370413', 'score': 0.22}]
chr14	GH14I024595	24595113	24596356	0.49	[{'connected_gene': 'ENSG00000258657', 'score': 550.77}, {'connected_gene': 'GZMB', 'score': 11.56}, {'connected_gene': 'ENSG00000258744', 'score': 5.58}, {'connected_gene': 'PIR56771', 'score': 0.44}]