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
ENST00000300433	[[48348766, 48348850], [48351836, 48351931], [48355075, 48355101], [48355916, 48355991], [48356161, 48356357], [48356555, 48358844]]	[[48351862, 48351931], [48355075, 48355101], [48355916, 48355991], [48356161, 48356357], [48356555, 48356669]]
ENST00000507382	[[48351787, 48351931], [48355075, 48355101], [48355916, 48355991], [48356161, 48356357], [48356555, 48356687]]	[[48351862, 48351931], [48355075, 48355101], [48355916, 48355991], [48356161, 48356357], [48356555, 48356669]]
ENST00000511882	[[48352239, 48352404], [48355075, 48355101], [48355916, 48355991], [48356161, 48356477]]	None
NM_001168215	[[48348766, 48348850], [48351836, 48351931], [48355075, 48355101], [48355916, 48355991], [48356161, 48356357], [48356555, 48358846]]	[[48351862, 48351931], [48355075, 48355101], [48355916, 48355991], [48356161, 48356357], [48356555, 48356669]]
NM_153229	[[48351787, 48351931], [48355075, 48355101], [48355916, 48355991], [48356161, 48356357], [48356555, 48358846]]	[[48351862, 48351931], [48355075, 48355101], [48355916, 48355991], [48356161, 48356357], [48356555, 48356669]]

Promoter

Chrom	Start	End	Description
chr17	48351785	48351790	CAGE_peak_2_at_TMEM92_5end
chr17	48351809	48351870	CAGE_peak_1_at_TMEM92_5end
chr17	48352247	48352258	CAGE_peak_3_at_TMEM92_5end
chr17	48352265	48352274	CAGE_peak_4_at_TMEM92_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I050317	50317270	50320153	1.03	[{'connected_gene': 'ACSF2', 'score': 14.61}, {'connected_gene': 'LUC7L3', 'score': 13.21}, {'connected_gene': 'MBTD1', 'score': 12.47}, {'connected_gene': 'TMEM92-AS1', 'score': 11.61}, {'connected_gene': 'XYLT2', 'score': 11.58}, {'connected_gene': 'COL1A1', 'score': 11.56}, {'connected_gene': 'TMEM92', 'score': 11.56}, {'connected_gene': 'ENSG00000262837', 'score': 11.17}, {'connected_gene': 'ENSG00000253102', 'score': 10.35}, {'connected_gene': 'ENSG00000250282', 'score': 10.08}, {'connected_gene': 'PDK2', 'score': 10.08}, {'connected_gene': 'CHAD', 'score': 9.81}]
chr17	GH17I049835	49835454	49837083	1.2	[{'connected_gene': 'FLJ45513', 'score': 9.97}, {'connected_gene': 'SGCA', 'score': 4.48}, {'connected_gene': 'TMEM92', 'score': 1.32}, {'connected_gene': 'ENSG00000262837', 'score': 0.77}]
chr17	GH17I050256	50256622	50261489	1.32	[{'connected_gene': 'CACNA1G-AS1', 'score': 13.12}, {'connected_gene': 'COL1A1', 'score': 11.46}, {'connected_gene': 'SAMD14', 'score': 9.81}, {'connected_gene': 'TMEM92', 'score': 5.25}, {'connected_gene': 'EPN3', 'score': 1.27}, {'connected_gene': 'LOC105371822', 'score': 0.77}]
chr17	GH17I050262	50262492	50275868	2.66	[{'connected_gene': 'TMEM92', 'score': 568.0}, {'connected_gene': 'LUC7L3', 'score': 31.61}, {'connected_gene': 'MBTD1', 'score': 30.69}, {'connected_gene': 'ENSG00000262837', 'score': 24.26}, {'connected_gene': 'COL1A1', 'score': 16.38}, {'connected_gene': 'LOC105371824', 'score': 11.78}, {'connected_gene': 'MYCBPAP', 'score': 11.22}, {'connected_gene': 'SPATA20', 'score': 10.79}, {'connected_gene': 'FAM117A', 'score': 10.71}, {'connected_gene': 'FLJ45513', 'score': 10.03}, {'connected_gene': 'NME1', 'score': 4.87}, {'connected_gene': 'LOC105371822', 'score': 0.39}]
chr17	GH17I050278	50278422	50282052	1.07	[{'connected_gene': 'TMEM92', 'score': 26.43}, {'connected_gene': 'EME1', 'score': 4.49}, {'connected_gene': 'TMEM92-AS1', 'score': 0.44}]
chr17	GH17I050216	50216390	50223270	1.24	[{'connected_gene': 'TMEM92', 'score': 11.92}, {'connected_gene': 'TMEM92-AS1', 'score': 11.89}, {'connected_gene': 'HILS1', 'score': 10.61}, {'connected_gene': 'SGCA', 'score': 10.56}, {'connected_gene': 'ENSG00000253730', 'score': 10.56}, {'connected_gene': 'SAMD14', 'score': 10.27}, {'connected_gene': 'PDK2', 'score': 9.92}, {'connected_gene': 'ENSG00000250282', 'score': 9.92}, {'connected_gene': 'ACSF2', 'score': 9.67}, {'connected_gene': 'CHAD', 'score': 9.66}, {'connected_gene': 'LOC105371820', 'score': 0.77}, {'connected_gene': 'SUMO2P7', 'score': 0.37}]
chr17	GH17I050277	50277001	50277200	0.49	[{'connected_gene': 'TMEM92', 'score': 17.65}, {'connected_gene': 'TMEM92-AS1', 'score': 0.39}]
chr17	GH17I050276	50276201	50276800	0.69	[{'connected_gene': 'TMEM92', 'score': 0.44}, {'connected_gene': 'TMEM92-AS1', 'score': 0.39}]
chr17	GH17I050171	50171538	50213505	2.83	[{'connected_gene': 'COL1A1', 'score': 566.88}, {'connected_gene': 'SGCA', 'score': 58.54}, {'connected_gene': 'ENSG00000262837', 'score': 27.65}, {'connected_gene': 'LUC7L3', 'score': 23.95}, {'connected_gene': 'TMEM92-AS1', 'score': 17.13}, {'connected_gene': 'TMEM92', 'score': 13.28}, {'connected_gene': 'XYLT2', 'score': 13.27}, {'connected_gene': 'ZNF652', 'score': 12.76}, {'connected_gene': 'PPP1R9B', 'score': 12.76}, {'connected_gene': 'FLJ45513', 'score': 12.56}, {'connected_gene': 'ENSG00000253730', 'score': 12.08}, {'connected_gene': 'LOC105371824', 'score': 11.77}, {'connected_gene': 'MYCBPAP', 'score': 11.21}, {'connected_gene': 'EIF4EP2', 'score': 11.04}, {'connected_gene': 'SAMD14', 'score': 11.0}, {'connected_gene': 'ENSG00000250282', 'score': 10.96}, {'connected_gene': 'PDK2', 'score': 10.95}, {'connected_gene': 'FAM117A', 'score': 10.67}, {'connected_gene': 'ACSF2', 'score': 9.86}, {'connected_gene': 'CHAD', 'score': 9.85}, {'connected_gene': 'HILS1', 'score': 6.09}, {'connected_gene': 'LRRC59', 'score': 3.17}, {'connected_gene': 'ENSG00000249406', 'score': 0.37}, {'connected_gene': 'LOC105371820', 'score': 0.34}]
chr17	GH17I050309	50309349	50309589	0.75	[{'connected_gene': 'COL1A1', 'score': 12.67}, {'connected_gene': 'TMEM92-AS1', 'score': 12.16}, {'connected_gene': 'TMEM92', 'score': 12.1}, {'connected_gene': 'HILS1', 'score': 11.48}, {'connected_gene': 'SGCA', 'score': 11.46}, {'connected_gene': 'ENSG00000253730', 'score': 11.46}, {'connected_gene': 'ACSF2', 'score': 10.21}, {'connected_gene': 'CHAD', 'score': 10.18}, {'connected_gene': 'XYLT2', 'score': 0.28}]
chr17	GH17I050214	50214601	50215950	0.83	[{'connected_gene': 'LOC105371820', 'score': 550.77}, {'connected_gene': 'LINC01969', 'score': 550.77}, {'connected_gene': 'TMEM92', 'score': 11.91}, {'connected_gene': 'TMEM92-AS1', 'score': 11.88}, {'connected_gene': 'HILS1', 'score': 11.01}, {'connected_gene': 'SGCA', 'score': 10.95}, {'connected_gene': 'ENSG00000253730', 'score': 10.95}, {'connected_gene': 'SAMD14', 'score': 10.27}, {'connected_gene': 'ENSG00000250282', 'score': 9.98}, {'connected_gene': 'PDK2', 'score': 9.97}, {'connected_gene': 'ACSF2', 'score': 9.87}, {'connected_gene': 'CHAD', 'score': 9.86}]
chr17	GH17I050287	50287601	50287800	0.31	[{'connected_gene': 'TMEM92-AS1', 'score': 550.77}, {'connected_gene': 'TMEM92', 'score': 0.37}]
chr17	GH17I050285	50285081	50285640	0.2	[{'connected_gene': 'TMEM92-AS1', 'score': 0.77}, {'connected_gene': 'TMEM92', 'score': 0.39}]
chr17	GH17I050283	50283300	50283449	0.91	[{'connected_gene': 'TMEM92-AS1', 'score': 0.77}, {'connected_gene': 'TMEM92', 'score': 0.39}]
chr17	GH17I050213	50213581	50213988	0.72	[{'connected_gene': 'LINC01969', 'score': 550.77}, {'connected_gene': 'TMEM92', 'score': 11.59}, {'connected_gene': 'TMEM92-AS1', 'score': 11.31}, {'connected_gene': 'HILS1', 'score': 11.01}, {'connected_gene': 'SGCA', 'score': 10.97}, {'connected_gene': 'ENSG00000253730', 'score': 10.95}, {'connected_gene': 'ENSG00000250282', 'score': 9.98}, {'connected_gene': 'PDK2', 'score': 9.97}, {'connected_gene': 'ACSF2', 'score': 9.87}, {'connected_gene': 'CHAD', 'score': 9.86}, {'connected_gene': 'ENSG00000249406', 'score': 0.77}, {'connected_gene': 'LOC105371820', 'score': 0.77}]
chr17	GH17I050882	50882065	50885783	1.33	[{'connected_gene': 'ENSG00000251665', 'score': 12.75}, {'connected_gene': 'ENSG00000247011', 'score': 12.75}, {'connected_gene': 'WFIKKN2', 'score': 10.66}, {'connected_gene': 'TOB1-AS1', 'score': 10.4}, {'connected_gene': 'TOB1', 'score': 8.25}, {'connected_gene': 'TMEM92', 'score': 5.4}, {'connected_gene': 'GC17M050874', 'score': 0.44}, {'connected_gene': 'LOC105371825', 'score': 0.39}]