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
ENST00000552252	[[25042727, 25043016], [25043450, 25043705], [25043880, 25044618], [25045374, 25045456]]	None
ENST00000216336	[[25042761, 25043016], [25043450, 25043705], [25043880, 25044016], [25044470, 25044618], [25045374, 25045466]]	[[25042842, 25043016], [25043450, 25043705], [25043880, 25044016], [25044470, 25044618], [25045374, 25045429]]
NM_001911	[[25042723, 25043016], [25043450, 25043705], [25043880, 25044016], [25044470, 25044618], [25045374, 25045466]]	[[25042842, 25043016], [25043450, 25043705], [25043880, 25044016], [25044470, 25044618], [25045374, 25045429]]

Promoter

Chrom	Start	End	Description
chr14	25045446	25045464	CAGE_peak_1_at_CTSG_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I024456	24456796	24457875	0.38	[{'connected_gene': 'SDR39U1', 'score': 20.46}, {'connected_gene': 'CTSG', 'score': 9.9}, {'connected_gene': 'LOC101927045', 'score': 0.39}, {'connected_gene': 'ENSG00000258744', 'score': 0.26}]
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	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	GH14I024916	24916258	24916460	0.57	[{'connected_gene': 'STXBP6', 'score': 12.81}, {'connected_gene': 'CMA1', 'score': 7.21}, {'connected_gene': 'DHRS4-AS1', 'score': 5.67}, {'connected_gene': 'CTSG', 'score': 3.64}, {'connected_gene': 'PIR50915', 'score': 0.09}]
chr14	GH14I024541	24541724	24543084	0.31	[{'connected_gene': 'KHNYN', 'score': 21.94}, {'connected_gene': 'RNA5SP383', 'score': 15.84}, {'connected_gene': 'TM9SF1', 'score': 14.39}, {'connected_gene': 'RNF31', 'score': 14.05}, {'connected_gene': 'TINF2', 'score': 13.21}, {'connected_gene': 'LOC102724814', 'score': 12.95}, {'connected_gene': 'CIDEB', 'score': 12.93}, {'connected_gene': 'GZMH', 'score': 10.81}, {'connected_gene': 'ENSG00000259321', 'score': 10.11}, {'connected_gene': 'ENSG00000258744', 'score': 7.68}, {'connected_gene': 'CBLN3', 'score': 6.25}, {'connected_gene': 'CTSG', 'score': 0.29}, {'connected_gene': 'CMA1', 'score': 0.29}]
chr14	GH14I024463	24463057	24464460	0.6	[{'connected_gene': 'CTSG', 'score': 9.91}, {'connected_gene': 'SDR39U1', 'score': 9.31}, {'connected_gene': 'CMA1', 'score': 7.93}, {'connected_gene': 'LOC101927045', 'score': 0.34}, {'connected_gene': 'ENSG00000258744', 'score': 0.28}]
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	GH14I024481	24481515	24482451	1.11	[{'connected_gene': 'CTSG', 'score': 10.22}, {'connected_gene': 'ENSG00000258744', 'score': 10.21}, {'connected_gene': 'CMA1', 'score': 8.02}, {'connected_gene': 'SDR39U1', 'score': 7.53}, {'connected_gene': 'KHNYN', 'score': 4.97}, {'connected_gene': 'LOC101927045', 'score': 0.28}]
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	GH14I024484	24483975	24484144	0.74	[{'connected_gene': 'CTSG', 'score': 10.22}, {'connected_gene': 'ENSG00000258744', 'score': 9.4}, {'connected_gene': 'CMA1', 'score': 7.58}, {'connected_gene': 'LOC101927045', 'score': 0.26}]
chr14	GH14I024699	24699872	24701124	0.66	[{'connected_gene': 'CTSG', 'score': 9.89}, {'connected_gene': 'PIR50915', 'score': 0.29}, {'connected_gene': 'LOC105370413', 'score': 0.21}]
chr14	GH14I024483	24483775	24483924	0.66	[{'connected_gene': 'CTSG', 'score': 10.22}, {'connected_gene': 'ENSG00000258744', 'score': 0.37}, {'connected_gene': 'LOC101927045', 'score': 0.26}]
chr14	GH14I024576	24576240	24576299	0.61	[{'connected_gene': 'CTSG', 'score': 550.77}, {'connected_gene': 'ENSG00000258657', 'score': 0.37}]
chr14	GH14I024212	24212220	24217155	2.13	[{'connected_gene': 'MDP1', 'score': 570.61}, {'connected_gene': 'CHMP4A', 'score': 558.82}, {'connected_gene': 'ENSG00000260669', 'score': 550.77}, {'connected_gene': 'ENSG00000254692', 'score': 550.77}, {'connected_gene': 'HOMEZ', 'score': 19.22}, {'connected_gene': 'IPO4', 'score': 18.89}, {'connected_gene': 'RNF31', 'score': 16.88}, {'connected_gene': 'CMA1', 'score': 14.54}, {'connected_gene': 'PABPN1', 'score': 13.53}, {'connected_gene': 'RNA5SP383', 'score': 12.51}, {'connected_gene': 'NGDN', 'score': 12.46}, {'connected_gene': 'TSSK4', 'score': 12.02}, {'connected_gene': 'SDR39U1', 'score': 11.82}, {'connected_gene': 'CTSG', 'score': 11.31}, {'connected_gene': 'KHNYN', 'score': 10.86}, {'connected_gene': 'BCL2L2-PABPN1', 'score': 10.83}, {'connected_gene': 'NOP9', 'score': 9.96}, {'connected_gene': 'NFATC4', 'score': 9.9}, {'connected_gene': 'LOC102724814', 'score': 9.73}, {'connected_gene': 'LTB4R', 'score': 4.54}, {'connected_gene': 'NEDD8-MDP1', 'score': 0.37}, {'connected_gene': 'NEDD8', 'score': 0.37}]
chr14	GH14I024843	24843045	24844878	1.05	[{'connected_gene': 'CMA1', 'score': 18.24}, {'connected_gene': 'STXBP6', 'score': 16.03}, {'connected_gene': 'CTSG', 'score': 8.47}, {'connected_gene': 'DHRS4', 'score': 4.36}, {'connected_gene': 'PIR50915', 'score': 0.14}]
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	GH14I024518	24518925	24519064	0.22	[{'connected_gene': 'CMA1', 'score': 27.25}, {'connected_gene': 'CTSG', 'score': 12.61}, {'connected_gene': 'ENSG00000258744', 'score': 7.25}]
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}]