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
ENST00000476826	[[160210843, 160210920], [160211971, 160212158], [160218318, 160218550], [160219083, 160219345]]	None
ENST00000479638	[[160210917, 160211092], [160211699, 160211819], [160211971, 160212158], [160218318, 160218436]]	None
ENST00000367034	[[160211497, 160211671], [160211971, 160212158], [160218318, 160218550], [160219083, 160219468]]	[[160211619, 160211671], [160211971, 160212158], [160218318, 160218550], [160219083, 160219155]]
ENST00000480842	[[160211548, 160211819], [160211971, 160212158], [160218318, 160218550], [160219083, 160219468]]	None
NR_134864	[[160210843, 160210920], [160211971, 160212158], [160218318, 160218550], [160219083, 160219461]]	None
NR_134863	[[160210898, 160211092], [160211971, 160212142], [160218318, 160218550], [160219083, 160219461]]	None
NR_134866	[[160210898, 160211092], [160211971, 160212158], [160218318, 160218379], [160219083, 160219461]]	None
NR_134865	[[160210898, 160211092], [160211971, 160212158], [160218318, 160218401], [160219083, 160219461]]	None
NR_134862	[[160210898, 160211092], [160211971, 160212158], [160218318, 160218550], [160219083, 160219461]]	None
NR_134860	[[160210898, 160211092], [160211699, 160211819], [160211971, 160212158], [160218318, 160218550], [160219083, 160219461]]	None
NM_001318817	[[160211477, 160211671], [160211971, 160212158], [160218318, 160218401], [160219083, 160219461]]	[[160211619, 160211671], [160211971, 160212158], [160218318, 160218401], [160219083, 160219151]]
NM_014161	[[160211477, 160211671], [160211971, 160212158], [160218318, 160218550], [160219083, 160219461]]	[[160211619, 160211671], [160211971, 160212158], [160218318, 160218550], [160219083, 160219155]]
NR_134861	[[160211548, 160211819], [160211971, 160212158], [160218318, 160218550], [160219083, 160219461]]	None

Promoter

Chrom	Start	End	Description
chr6	160210814	160210883	CAGE_peak_5_at_MRPL18_5end
chr6	160210892	160210910	CAGE_peak_7_at_MRPL18_5end
chr6	160210947	160210965	CAGE_peak_6_at_MRPL18_5end
chr6	160210966	160210991	CAGE_peak_2_at_MRPL18_5end
chr6	160210992	160210999	CAGE_peak_8_at_MRPL18_5end
chr6	160211004	160211036	CAGE_peak_3_at_MRPL18_5end
chr6	160211463	160211477	CAGE_peak_4_at_MRPL18_5end
chr6	160211481	160211551	CAGE_peak_1_at_MRPL18_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I158847	158847509	158858734	1.89	[{'connected_gene': 'WTAP', 'score': 80.17}, {'connected_gene': 'DYNLT1', 'score': 22.27}, {'connected_gene': 'EZR', 'score': 13.77}, {'connected_gene': 'SYTL3', 'score': 12.61}, {'connected_gene': 'LOC442272', 'score': 12.22}, {'connected_gene': 'RNU6-293P', 'score': 12.21}, {'connected_gene': 'TCP1', 'score': 10.8}, {'connected_gene': 'TATDN2P2', 'score': 10.23}, {'connected_gene': 'MRPL18', 'score': 9.68}, {'connected_gene': 'TAGAP', 'score': 2.62}, {'connected_gene': 'OSTCP1', 'score': 0.77}]
chr6	GH06I159725	159725556	159730972	2.35	[{'connected_gene': 'WTAP', 'score': 594.53}, {'connected_gene': 'GC06M159725', 'score': 550.77}, {'connected_gene': 'MRPL18', 'score': 39.81}, {'connected_gene': 'TCP1', 'score': 24.49}, {'connected_gene': 'PNLDC1', 'score': 23.84}, {'connected_gene': 'ACAT2', 'score': 11.96}, {'connected_gene': 'SOD2-OT1', 'score': 11.5}, {'connected_gene': 'SOD2', 'score': 11.5}, {'connected_gene': 'SNORA29', 'score': 11.48}, {'connected_gene': 'SNORA20', 'score': 11.23}, {'connected_gene': 'LOC729603', 'score': 11.21}, {'connected_gene': 'IGF2R', 'score': 4.96}, {'connected_gene': 'LOC105378085', 'score': 4.52}]
chr6	GH06I159689	159689001	159689200	0.51	[{'connected_gene': 'WTAP', 'score': 23.2}, {'connected_gene': 'MRPL18', 'score': 15.46}, {'connected_gene': 'SOD2-OT1', 'score': 12.44}, {'connected_gene': 'SOD2', 'score': 12.44}, {'connected_gene': 'ACAT2', 'score': 11.77}, {'connected_gene': 'SNORA29', 'score': 11.25}, {'connected_gene': 'TCP1', 'score': 11.25}, {'connected_gene': 'SNORA20', 'score': 10.87}, {'connected_gene': 'GC06M159698', 'score': 0.39}, {'connected_gene': 'GC06M159668', 'score': 0.34}, {'connected_gene': 'PIR54448', 'score': 0.34}]
chr6	GH06I159740	159740986	159742709	0.59	[{'connected_gene': 'WTAP', 'score': 23.36}, {'connected_gene': 'PNLDC1', 'score': 23.32}, {'connected_gene': 'SOD2-OT1', 'score': 12.02}, {'connected_gene': 'SOD2', 'score': 12.02}, {'connected_gene': 'SNORA29', 'score': 11.23}, {'connected_gene': 'TCP1', 'score': 11.21}, {'connected_gene': 'SNORA20', 'score': 11.04}, {'connected_gene': 'MRPL18', 'score': 11.01}, {'connected_gene': 'GC06M159725', 'score': 0.39}, {'connected_gene': 'ACAT2', 'score': 0.37}]
chr6	GH06I159758	159758127	159759041	0.82	[{'connected_gene': 'ACAT2', 'score': 550.77}, {'connected_gene': 'MRPL18', 'score': 30.51}, {'connected_gene': 'PNLDC1', 'score': 13.34}, {'connected_gene': 'LOC105378085', 'score': 5.04}, {'connected_gene': 'SOD2-OT1', 'score': 0.77}, {'connected_gene': 'SOD2', 'score': 0.77}, {'connected_gene': 'GC06M159725', 'score': 0.29}]
chr6	GH06I159690	159690500	159696298	2.29	[{'connected_gene': 'SOD2', 'score': 562.45}, {'connected_gene': 'MRPL18', 'score': 32.74}, {'connected_gene': 'WTAP', 'score': 23.31}, {'connected_gene': 'PNLDC1', 'score': 17.01}, {'connected_gene': 'SOD2-OT1', 'score': 12.45}, {'connected_gene': 'ACAT2', 'score': 11.78}, {'connected_gene': 'SNORA29', 'score': 11.26}, {'connected_gene': 'TCP1', 'score': 11.25}, {'connected_gene': 'SNORA20', 'score': 10.87}, {'connected_gene': 'LOC105378085', 'score': 7.43}, {'connected_gene': 'GC06M159698', 'score': 0.44}, {'connected_gene': 'GC06M159668', 'score': 0.31}, {'connected_gene': 'PIR54448', 'score': 0.31}]
chr6	GH06I159714	159714999	159718150	1.46	[{'connected_gene': 'IGF2R', 'score': 28.87}, {'connected_gene': 'MRPL18', 'score': 27.94}, {'connected_gene': 'SOD2', 'score': 13.18}, {'connected_gene': 'WTAP', 'score': 10.49}, {'connected_gene': 'PNLDC1', 'score': 7.0}, {'connected_gene': 'RNU4ATAC18P', 'score': 0.77}, {'connected_gene': 'HNRNPH1P1', 'score': 0.77}, {'connected_gene': 'SOD2-OT1', 'score': 0.25}]
chr6	GH06I159685	159685479	159686805	0.31	[{'connected_gene': 'MRPL18', 'score': 29.87}, {'connected_gene': 'WTAP', 'score': 12.52}, {'connected_gene': 'SOD2-OT1', 'score': 12.43}, {'connected_gene': 'SOD2', 'score': 12.43}, {'connected_gene': 'ACAT2', 'score': 11.77}, {'connected_gene': 'SNORA29', 'score': 11.25}, {'connected_gene': 'TCP1', 'score': 11.25}, {'connected_gene': 'SNORA20', 'score': 10.87}, {'connected_gene': 'PNLDC1', 'score': 10.44}, {'connected_gene': 'GC06M159668', 'score': 0.37}, {'connected_gene': 'PIR54448', 'score': 0.37}, {'connected_gene': 'GC06M159698', 'score': 0.37}]
chr6	GH06I159787	159787304	159792731	2.1	[{'connected_gene': 'MRPL18', 'score': 614.17}, {'connected_gene': 'TCP1', 'score': 581.76}, {'connected_gene': 'WTAP', 'score': 60.33}, {'connected_gene': 'LOC729603', 'score': 21.69}, {'connected_gene': 'PNLDC1', 'score': 9.72}]
chr6	GH06I159679	159679559	159680728	0.63	[{'connected_gene': 'MRPL18', 'score': 31.0}, {'connected_gene': 'TCP1', 'score': 10.78}, {'connected_gene': 'SNORA29', 'score': 10.78}, {'connected_gene': 'WTAP', 'score': 10.69}, {'connected_gene': 'PNLDC1', 'score': 5.43}, {'connected_gene': 'GC06M159668', 'score': 0.39}, {'connected_gene': 'PIR54448', 'score': 0.39}, {'connected_gene': 'GC06M159698', 'score': 0.34}, {'connected_gene': 'SOD2-OT1', 'score': 0.18}, {'connected_gene': 'SOD2', 'score': 0.18}]
chr6	GH06I159684	159683889	159684038	0.51	[{'connected_gene': 'MRPL18', 'score': 19.99}, {'connected_gene': 'SNORA29', 'score': 10.44}, {'connected_gene': 'TCP1', 'score': 10.44}, {'connected_gene': 'PNLDC1', 'score': 10.43}, {'connected_gene': 'GC06M159668', 'score': 0.37}, {'connected_gene': 'PIR54448', 'score': 0.37}, {'connected_gene': 'GC06M159698', 'score': 0.37}, {'connected_gene': 'SOD2-OT1', 'score': 0.18}, {'connected_gene': 'SOD2', 'score': 0.18}]
chr6	GH06I159805	159805167	159807967	0.84	[{'connected_gene': 'MRPL18', 'score': 30.06}, {'connected_gene': 'SNORA29', 'score': 10.67}, {'connected_gene': 'SNORA20', 'score': 10.43}, {'connected_gene': 'ACAT2', 'score': 10.36}, {'connected_gene': 'PNLDC1', 'score': 0.44}, {'connected_gene': 'PIR41853', 'score': 0.34}, {'connected_gene': 'GC06P159828', 'score': 0.34}]
chr6	GH06I159737	159737383	159740202	0.31	[{'connected_gene': 'MRPL18', 'score': 51.37}, {'connected_gene': 'PNLDC1', 'score': 23.07}, {'connected_gene': 'ACAT2', 'score': 12.02}, {'connected_gene': 'SOD2-OT1', 'score': 12.02}, {'connected_gene': 'SOD2', 'score': 12.02}, {'connected_gene': 'SNORA20', 'score': 11.03}, {'connected_gene': 'TCP1', 'score': 11.0}, {'connected_gene': 'SNORA29', 'score': 10.9}, {'connected_gene': 'IGF2R', 'score': 6.61}, {'connected_gene': 'WTAP', 'score': 0.39}, {'connected_gene': 'GC06M159725', 'score': 0.39}]
chr6	GH06I159819	159819410	159821478	0.77	[{'connected_gene': 'MRPL18', 'score': 16.75}, {'connected_gene': 'PNLDC1', 'score': 12.35}, {'connected_gene': 'TCP1', 'score': 11.81}, {'connected_gene': 'SNORA29', 'score': 11.81}, {'connected_gene': 'SNORA20', 'score': 10.64}, {'connected_gene': 'ACAT2', 'score': 10.58}, {'connected_gene': 'SOD2-OT1', 'score': 10.32}, {'connected_gene': 'SOD2', 'score': 10.32}, {'connected_gene': 'SLC22A1', 'score': 6.31}, {'connected_gene': 'IGF2R', 'score': 5.4}, {'connected_gene': 'PIR41853', 'score': 0.44}, {'connected_gene': 'GC06P159828', 'score': 0.44}]
chr6	GH06I159680	159680968	159681783	0.4	[{'connected_gene': 'MRPL18', 'score': 17.83}, {'connected_gene': 'PNLDC1', 'score': 16.36}, {'connected_gene': 'SNORA29', 'score': 10.78}, {'connected_gene': 'TCP1', 'score': 10.78}, {'connected_gene': 'LOC105378085', 'score': 7.34}, {'connected_gene': 'GC06M159668', 'score': 0.39}, {'connected_gene': 'PIR54448', 'score': 0.39}, {'connected_gene': 'GC06M159698', 'score': 0.34}, {'connected_gene': 'SOD2-OT1', 'score': 0.18}, {'connected_gene': 'SOD2', 'score': 0.18}]
chr6	GH06I159642	159642168	159643367	0.31	[{'connected_gene': 'MRPL18', 'score': 14.33}, {'connected_gene': 'PNLDC1', 'score': 7.29}, {'connected_gene': 'GC06M159668', 'score': 0.34}, {'connected_gene': 'PIR54448', 'score': 0.34}, {'connected_gene': 'LOC105378085', 'score': 0.25}]
chr6	GH06I159601	159601881	159602584	0.2	[{'connected_gene': 'MRPL18', 'score': 8.47}, {'connected_gene': 'LOC105378085', 'score': 0.44}, {'connected_gene': 'GC06M159668', 'score': 0.21}, {'connected_gene': 'PIR54448', 'score': 0.21}]
chr6	GH06I159609	159609880	159610599	0.2	[{'connected_gene': 'MRPL18', 'score': 8.56}, {'connected_gene': 'LOC105378085', 'score': 0.37}, {'connected_gene': 'GC06M159668', 'score': 0.22}, {'connected_gene': 'PIR54448', 'score': 0.22}]
chr6	GH06I159174	159174369	159174538	0.69	[{'connected_gene': 'MRPL18', 'score': 4.61}, {'connected_gene': 'LOC101929122', 'score': 0.77}, {'connected_gene': 'FNDC1', 'score': 0.44}, {'connected_gene': 'FNDC1-IT1', 'score': 0.2}]
chr6	GH06I159572	159572195	159573295	0.2	[{'connected_gene': 'MRPL18', 'score': 9.35}, {'connected_gene': 'GC06M159546', 'score': 0.39}, {'connected_gene': 'ENSG00000276413', 'score': 0.37}]
chr6	GH06I159831	159830249	159830334	0.2	[{'connected_gene': 'PNLDC1', 'score': 12.09}, {'connected_gene': 'TCP1', 'score': 11.71}, {'connected_gene': 'SNORA29', 'score': 11.71}, {'connected_gene': 'MRPL18', 'score': 11.71}, {'connected_gene': 'SNORA20', 'score': 11.13}, {'connected_gene': 'ACAT2', 'score': 11.09}, {'connected_gene': 'PIR41853', 'score': 0.77}, {'connected_gene': 'GC06P159828', 'score': 0.77}, {'connected_gene': 'GC06P159838', 'score': 0.44}]
chr6	GH06I159830	159830588	159831638	0.2	[{'connected_gene': 'PNLDC1', 'score': 12.09}, {'connected_gene': 'TCP1', 'score': 11.71}, {'connected_gene': 'MRPL18', 'score': 11.71}, {'connected_gene': 'SNORA29', 'score': 11.7}, {'connected_gene': 'SNORA20', 'score': 11.12}, {'connected_gene': 'ACAT2', 'score': 11.08}, {'connected_gene': 'LOC105378085', 'score': 7.14}, {'connected_gene': 'PIR41853', 'score': 0.77}, {'connected_gene': 'GC06P159828', 'score': 0.77}, {'connected_gene': 'GC06P159838', 'score': 0.44}]
chr6	GH06I159682	159682878	159683549	0.51	[{'connected_gene': 'PNLDC1', 'score': 15.74}, {'connected_gene': 'SNORA29', 'score': 10.44}, {'connected_gene': 'TCP1', 'score': 10.44}, {'connected_gene': 'MRPL18', 'score': 7.16}, {'connected_gene': 'GC06M159668', 'score': 0.37}, {'connected_gene': 'PIR54448', 'score': 0.37}, {'connected_gene': 'GC06M159698', 'score': 0.37}, {'connected_gene': 'SOD2-OT1', 'score': 0.18}, {'connected_gene': 'SOD2', 'score': 0.18}]
chr6	GH06I159829	159829401	159830199	0.2	[{'connected_gene': 'PNLDC1', 'score': 12.11}, {'connected_gene': 'MRPL18', 'score': 11.73}, {'connected_gene': 'TCP1', 'score': 11.71}, {'connected_gene': 'SNORA29', 'score': 11.71}, {'connected_gene': 'SNORA20', 'score': 11.13}, {'connected_gene': 'ACAT2', 'score': 11.09}, {'connected_gene': 'LOC105378085', 'score': 5.36}, {'connected_gene': 'PIR41853', 'score': 0.77}, {'connected_gene': 'GC06P159828', 'score': 0.77}, {'connected_gene': 'GC06P159838', 'score': 0.44}]
chr6	GH06I159801	159800237	159800296	0.61	[{'connected_gene': 'PNLDC1', 'score': 563.03}, {'connected_gene': 'MRPL18', 'score': 11.62}, {'connected_gene': 'PIR41853', 'score': 0.31}, {'connected_gene': 'GC06P159828', 'score': 0.31}]
chr6	GH06I159800	159800124	159800183	0.61	[{'connected_gene': 'PNLDC1', 'score': 550.77}, {'connected_gene': 'MRPL18', 'score': 63.96}]
chr6	GH06I159718	159718542	159719298	0.67	[{'connected_gene': 'RNU4ATAC18P', 'score': 550.77}, {'connected_gene': 'WTAP', 'score': 10.95}, {'connected_gene': 'MRPL18', 'score': 10.0}, {'connected_gene': 'HNRNPH1P1', 'score': 0.77}, {'connected_gene': 'SOD2-OT1', 'score': 0.26}, {'connected_gene': 'SOD2', 'score': 0.26}]
chr6	GH06I159720	159720540	159720877	0.84	[{'connected_gene': 'RNU4ATAC18P', 'score': 550.77}, {'connected_gene': 'MRPL18', 'score': 25.73}, {'connected_gene': 'SOD2', 'score': 14.18}, {'connected_gene': 'WTAP', 'score': 12.41}, {'connected_gene': 'IGF2R', 'score': 2.25}, {'connected_gene': 'MAS1', 'score': 1.73}, {'connected_gene': 'SOD2-OT1', 'score': 0.26}]
chr6	GH06I159593	159593713	159596164	0.88	[{'connected_gene': 'LOC105378085', 'score': 550.77}, {'connected_gene': 'MRPL18', 'score': 7.8}, {'connected_gene': 'PNLDC1', 'score': 6.63}, {'connected_gene': 'LOC729603', 'score': 4.71}, {'connected_gene': 'GC06M159546', 'score': 0.44}]
chr6	GH06I159759	159759605	159763569	2.07	[{'connected_gene': 'SOD2-OT1', 'score': 550.77}, {'connected_gene': 'ACAT2', 'score': 550.77}, {'connected_gene': 'SOD2', 'score': 550.77}, {'connected_gene': 'MRPL18', 'score': 43.1}, {'connected_gene': 'WTAP', 'score': 22.67}, {'connected_gene': 'PNLDC1', 'score': 10.36}]
chr6	GH06I159699	159699259	159702709	1.3	[{'connected_gene': 'GC06M159698', 'score': 550.77}, {'connected_gene': 'MRPL18', 'score': 35.87}, {'connected_gene': 'WTAP', 'score': 21.92}, {'connected_gene': 'PNLDC1', 'score': 15.67}, {'connected_gene': 'SOD2-OT1', 'score': 13.25}, {'connected_gene': 'SOD2', 'score': 13.25}, {'connected_gene': 'ACAT2', 'score': 11.44}, {'connected_gene': 'SNORA29', 'score': 10.63}, {'connected_gene': 'TCP1', 'score': 10.62}, {'connected_gene': 'GC06M159668', 'score': 0.29}, {'connected_gene': 'PIR54448', 'score': 0.29}]
chr6	GH06I159776	159776951	159778817	0.63	[{'connected_gene': 'GC06M159783', 'score': 550.77}, {'connected_gene': 'GC06M159779', 'score': 550.77}, {'connected_gene': 'MRPL18', 'score': 49.14}, {'connected_gene': 'TCP1', 'score': 0.39}, {'connected_gene': 'SOD2-OT1', 'score': 0.37}, {'connected_gene': 'ACAT2', 'score': 0.37}, {'connected_gene': 'SOD2', 'score': 0.37}]