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
ENST00000432071	[[85788684, 85788767], [85806131, 85806290], [85808698, 85809120]]	[[85806206, 85806290], [85808698, 85808839]]
ENST00000263864	[[85804613, 85804772], [85806131, 85806290], [85808698, 85809154]]	[[85804769, 85804772], [85806131, 85806290], [85808698, 85808839]]
ENST00000409760	[[85804715, 85804772], [85806131, 85806290], [85806864, 85806997], [85808698, 85809154]]	[[85804769, 85804772], [85806131, 85806290], [85806864, 85806997], [85808698, 85808703]]
NM_003761	[[85804613, 85804772], [85806131, 85806290], [85808698, 85809156]]	[[85804769, 85804772], [85806131, 85806290], [85808698, 85808839]]

Promoter

Chrom	Start	End	Description
chr2	85804663	85804748	CAGE_peak_1_at_VAMP8_5end
chr2	85806236	85806245	CAGE_peak_3_at_VAMP8_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I085560	85560104	85562401	2.04	[{'connected_gene': 'VAMP8', 'score': 572.1}, {'connected_gene': 'GGCX', 'score': 550.77}, {'connected_gene': 'USP39', 'score': 16.06}, {'connected_gene': 'SH2D6', 'score': 12.56}, {'connected_gene': 'CAPG', 'score': 12.56}, {'connected_gene': 'TMEM150A', 'score': 10.59}, {'connected_gene': 'ELMOD3', 'score': 10.4}, {'connected_gene': 'RETSAT', 'score': 10.4}, {'connected_gene': 'SNORD94', 'score': 10.19}, {'connected_gene': 'GC02P085546', 'score': 0.37}]
chr2	GH02I085510	85510801	85511800	0.69	[{'connected_gene': 'VAMP8', 'score': 13.4}, {'connected_gene': 'GGCX', 'score': 9.08}, {'connected_gene': 'RPSAP22', 'score': 0.37}, {'connected_gene': 'GC02M085532', 'score': 0.34}]
chr2	GH02I085581	85581458	85582025	0.31	[{'connected_gene': 'VAMP8', 'score': 21.01}, {'connected_gene': 'TMEM150A', 'score': 12.05}, {'connected_gene': 'USP39', 'score': 12.05}, {'connected_gene': 'SH2D6', 'score': 11.03}, {'connected_gene': 'CAPG', 'score': 11.03}, {'connected_gene': 'MAT2A', 'score': 10.35}, {'connected_gene': 'ELMOD3', 'score': 9.43}, {'connected_gene': 'RETSAT', 'score': 9.43}, {'connected_gene': 'VAMP5', 'score': 0.77}, {'connected_gene': 'RN7SL126P', 'score': 0.39}, {'connected_gene': 'GC02M085574', 'score': 0.39}]
chr2	GH02I085575	85575989	85580699	2.13	[{'connected_gene': 'VAMP8', 'score': 571.5}, {'connected_gene': 'TMEM150A', 'score': 12.42}, {'connected_gene': 'USP39', 'score': 12.42}, {'connected_gene': 'GGCX', 'score': 11.78}, {'connected_gene': 'MAT2A', 'score': 11.27}, {'connected_gene': 'SH2D6', 'score': 11.04}, {'connected_gene': 'CAPG', 'score': 11.04}, {'connected_gene': 'ELMOD3', 'score': 10.3}, {'connected_gene': 'RETSAT', 'score': 10.3}, {'connected_gene': 'VAMP5', 'score': 0.44}, {'connected_gene': 'RN7SL126P', 'score': 0.39}, {'connected_gene': 'GC02M085574', 'score': 0.39}]
chr2	GH02I085701	85701078	85707799	1.73	[{'connected_gene': 'ATOH8', 'score': 27.07}, {'connected_gene': 'GNLY', 'score': 23.52}, {'connected_gene': 'LOC100130649', 'score': 18.81}, {'connected_gene': 'SFTPB', 'score': 12.24}, {'connected_gene': 'C2orf68', 'score': 11.89}, {'connected_gene': 'USP39', 'score': 11.88}, {'connected_gene': 'RNU1-38P', 'score': 11.78}, {'connected_gene': 'LOC284950', 'score': 10.92}, {'connected_gene': 'VAMP8', 'score': 10.13}, {'connected_gene': 'SH2D6', 'score': 3.93}, {'connected_gene': 'GC02M085730', 'score': 0.34}]
chr2	GH02I085412	85412587	85415392	2.49	[{'connected_gene': 'CAPG', 'score': 576.34}, {'connected_gene': 'LOC105374841', 'score': 550.77}, {'connected_gene': 'RETSAT', 'score': 11.74}, {'connected_gene': 'TGOLN2', 'score': 1.48}, {'connected_gene': 'VAMP8', 'score': 1.31}, {'connected_gene': 'ENSG00000273196', 'score': 0.31}, {'connected_gene': 'GC02P085363', 'score': 0.23}]
chr2	GH02I085594	85594054	85597726	2.01	[{'connected_gene': 'RNF181', 'score': 555.64}, {'connected_gene': 'GC02M085595', 'score': 550.77}, {'connected_gene': 'USP39', 'score': 24.77}, {'connected_gene': 'VAMP8', 'score': 11.07}, {'connected_gene': 'GGCX', 'score': 10.05}, {'connected_gene': 'VAMP5', 'score': 4.78}]
chr2	GH02I085497	85497532	85502234	1.69	[{'connected_gene': 'MAT2A', 'score': 29.6}, {'connected_gene': 'USP39', 'score': 23.92}, {'connected_gene': 'ELMOD3', 'score': 21.38}, {'connected_gene': 'SNORD94', 'score': 18.01}, {'connected_gene': 'RNU7-64P', 'score': 12.49}, {'connected_gene': 'RN7SL251P', 'score': 12.49}, {'connected_gene': 'CAPG', 'score': 12.28}, {'connected_gene': 'TCF7L1', 'score': 11.95}, {'connected_gene': 'TMEM150A', 'score': 10.65}, {'connected_gene': 'SH2D6', 'score': 10.62}, {'connected_gene': 'RETSAT', 'score': 9.92}, {'connected_gene': 'POLR1A', 'score': 9.76}, {'connected_gene': 'VAMP8', 'score': 7.86}, {'connected_gene': 'VAMP5', 'score': 5.79}, {'connected_gene': 'RPSAP22', 'score': 0.44}, {'connected_gene': 'GC02M085532', 'score': 0.29}]
chr2	GH02I085587	85587211	85592442	1.49	[{'connected_gene': 'GGCX', 'score': 24.36}, {'connected_gene': 'VAMP8', 'score': 22.58}, {'connected_gene': 'C2orf68', 'score': 12.07}, {'connected_gene': 'USP39', 'score': 11.95}, {'connected_gene': 'CHMP3', 'score': 4.36}, {'connected_gene': 'VAMP5', 'score': 2.19}, {'connected_gene': 'RNF181', 'score': 0.44}]
chr2	GH02I085523	85523033	85525716	1.24	[{'connected_gene': 'GGCX', 'score': 14.79}, {'connected_gene': 'VAMP8', 'score': 13.64}, {'connected_gene': 'RNU7-64P', 'score': 12.13}, {'connected_gene': 'RN7SL251P', 'score': 12.13}, {'connected_gene': 'SH2D6', 'score': 11.45}, {'connected_gene': 'CAPG', 'score': 11.45}, {'connected_gene': 'ELMOD3', 'score': 10.23}, {'connected_gene': 'RETSAT', 'score': 10.23}, {'connected_gene': 'GC02M085532', 'score': 0.44}, {'connected_gene': 'RPSAP22', 'score': 0.29}]
chr2	GH02I085600	85600941	85609632	2.02	[{'connected_gene': 'TMEM150A', 'score': 550.77}, {'connected_gene': 'USP39', 'score': 25.29}, {'connected_gene': 'VAMP8', 'score': 22.26}, {'connected_gene': 'RETSAT', 'score': 14.72}, {'connected_gene': 'GGCX', 'score': 11.49}, {'connected_gene': 'SH2D6', 'score': 11.24}, {'connected_gene': 'CAPG', 'score': 11.24}, {'connected_gene': 'RNU1-38P', 'score': 10.44}, {'connected_gene': 'ELMOD3', 'score': 10.28}, {'connected_gene': 'C2orf68', 'score': 0.44}]
chr2	GH02I085563	85563801	85564529	1.02	[{'connected_gene': 'TMEM150A', 'score': 12.66}, {'connected_gene': 'USP39', 'score': 12.66}, {'connected_gene': 'VAMP5', 'score': 12.43}, {'connected_gene': 'MAT2A', 'score': 11.58}, {'connected_gene': 'SH2D6', 'score': 10.92}, {'connected_gene': 'CAPG', 'score': 10.92}, {'connected_gene': 'ELMOD3', 'score': 10.31}, {'connected_gene': 'RETSAT', 'score': 10.31}, {'connected_gene': 'RN7SL126P', 'score': 0.77}, {'connected_gene': 'GC02M085574', 'score': 0.77}, {'connected_gene': 'VAMP8', 'score': 0.77}, {'connected_gene': 'GC02P085546', 'score': 0.37}]
chr2	GH02I084904	84904182	84909818	2.26	[{'connected_gene': 'TRABD2A', 'score': 560.15}, {'connected_gene': 'TMSB10', 'score': 550.77}, {'connected_gene': 'LOC105374836', 'score': 550.77}, {'connected_gene': 'USP39', 'score': 21.28}, {'connected_gene': 'TCF7L1', 'score': 21.1}, {'connected_gene': 'ELMOD3', 'score': 12.08}, {'connected_gene': 'C2orf68', 'score': 11.05}, {'connected_gene': 'LOC100996506', 'score': 10.84}, {'connected_gene': 'VAMP8', 'score': 10.05}, {'connected_gene': 'GC02P084898', 'score': 0.44}]
chr2	GH02I085582	85582859	85586804	2.53	[{'connected_gene': 'VAMP5', 'score': 552.38}, {'connected_gene': 'VAMP8', 'score': 17.68}, {'connected_gene': 'GGCX', 'score': 15.36}, {'connected_gene': 'SH2D6', 'score': 11.04}, {'connected_gene': 'CAPG', 'score': 11.04}, {'connected_gene': 'MAT2A', 'score': 10.33}, {'connected_gene': 'ELMOD3', 'score': 9.42}, {'connected_gene': 'RETSAT', 'score': 9.42}, {'connected_gene': 'USP39', 'score': 5.08}, {'connected_gene': 'RNF181', 'score': 0.39}]
chr2	GH02I085554	85554371	85556140	0.43	[{'connected_gene': 'USP39', 'score': 23.14}, {'connected_gene': 'VAMP8', 'score': 17.75}, {'connected_gene': 'SH2D6', 'score': 12.57}, {'connected_gene': 'CAPG', 'score': 12.57}, {'connected_gene': 'GGCX', 'score': 11.85}, {'connected_gene': 'TMEM150A', 'score': 10.58}, {'connected_gene': 'ELMOD3', 'score': 10.41}, {'connected_gene': 'RETSAT', 'score': 10.41}, {'connected_gene': 'GC02P085546', 'score': 0.44}]
chr2	GH02I085637	85637416	85638050	0.72	[{'connected_gene': 'USP39', 'score': 17.96}, {'connected_gene': 'SFTPB', 'score': 12.51}, {'connected_gene': 'GNLY', 'score': 12.16}, {'connected_gene': 'RNU1-38P', 'score': 11.44}, {'connected_gene': 'LOC284950', 'score': 11.4}, {'connected_gene': 'TMEM150A', 'score': 11.28}, {'connected_gene': 'ATOH8', 'score': 11.1}, {'connected_gene': 'VAMP8', 'score': 10.56}, {'connected_gene': 'GC02P085634', 'score': 0.77}]
chr2	GH02I085548	85548476	85552506	1.28	[{'connected_gene': 'USP39', 'score': 19.56}, {'connected_gene': 'GGCX', 'score': 17.33}, {'connected_gene': 'VAMP8', 'score': 15.85}, {'connected_gene': 'SH2D6', 'score': 12.57}, {'connected_gene': 'CAPG', 'score': 12.57}, {'connected_gene': 'TGOLN2', 'score': 11.06}, {'connected_gene': 'TMEM150A', 'score': 11.0}, {'connected_gene': 'RNU7-64P', 'score': 10.85}, {'connected_gene': 'RN7SL251P', 'score': 10.85}, {'connected_gene': 'ELMOD3', 'score': 10.41}, {'connected_gene': 'RETSAT', 'score': 10.41}, {'connected_gene': 'TMSB10', 'score': 4.67}, {'connected_gene': 'GC02P085546', 'score': 0.77}]
chr2	GH02I085502	85502283	85508017	1.26	[{'connected_gene': 'USP39', 'score': 23.89}, {'connected_gene': 'RNU7-64P', 'score': 12.25}, {'connected_gene': 'RN7SL251P', 'score': 12.25}, {'connected_gene': 'MAT2A', 'score': 11.5}, {'connected_gene': 'TMEM150A', 'score': 10.65}, {'connected_gene': 'SH2D6', 'score': 10.62}, {'connected_gene': 'CAPG', 'score': 10.62}, {'connected_gene': 'ELMOD3', 'score': 9.91}, {'connected_gene': 'RETSAT', 'score': 9.91}, {'connected_gene': 'VAMP5', 'score': 6.83}, {'connected_gene': 'VAMP8', 'score': 6.71}, {'connected_gene': 'GGCX', 'score': 4.84}, {'connected_gene': 'RPSAP22', 'score': 0.39}, {'connected_gene': 'GC02M085532', 'score': 0.31}]
chr2	GH02I085655	85655546	85656553	0.51	[{'connected_gene': 'RNU1-38P', 'score': 11.59}, {'connected_gene': 'GNLY', 'score': 11.42}, {'connected_gene': 'LOC284950', 'score': 11.12}, {'connected_gene': 'VAMP8', 'score': 10.26}, {'connected_gene': 'SFTPB', 'score': 0.39}, {'connected_gene': 'GC02P085634', 'score': 0.34}]
chr2	GH02I085323	85323529	85329089	2.32	[{'connected_gene': 'TGOLN2', 'score': 570.33}, {'connected_gene': 'RETSAT', 'score': 31.6}, {'connected_gene': 'ELMOD3', 'score': 21.94}, {'connected_gene': 'LOC100996506', 'score': 18.73}, {'connected_gene': 'SNORD94', 'score': 18.17}, {'connected_gene': 'CAPG', 'score': 16.28}, {'connected_gene': 'USP39', 'score': 13.99}, {'connected_gene': 'C2orf68', 'score': 13.31}, {'connected_gene': 'SH2D6', 'score': 10.95}, {'connected_gene': 'VAMP8', 'score': 10.09}, {'connected_gene': 'TCF7L1', 'score': 4.65}, {'connected_gene': 'PIR54061', 'score': 0.77}]
chr2	GH02I085467	85467560	85473314	1.36	[{'connected_gene': 'RNU7-64P', 'score': 12.96}, {'connected_gene': 'RN7SL251P', 'score': 12.96}, {'connected_gene': 'MAT2A', 'score': 11.36}, {'connected_gene': 'SH2D6', 'score': 11.13}, {'connected_gene': 'CAPG', 'score': 11.13}, {'connected_gene': 'ELMOD3', 'score': 10.56}, {'connected_gene': 'RETSAT', 'score': 10.56}, {'connected_gene': 'VAMP8', 'score': 4.85}, {'connected_gene': 'GGCX', 'score': 4.82}, {'connected_gene': 'ENSG00000199936', 'score': 0.39}, {'connected_gene': 'GC02M085461', 'score': 0.39}, {'connected_gene': 'RPSAP22', 'score': 0.34}]
chr2	GH02I085550	85547498	85547554	0.69	[{'connected_gene': 'GC02P085546', 'score': 550.77}, {'connected_gene': 'VAMP8', 'score': 17.7}, {'connected_gene': 'SH2D6', 'score': 12.25}, {'connected_gene': 'CAPG', 'score': 12.25}, {'connected_gene': 'TMEM150A', 'score': 10.99}, {'connected_gene': 'USP39', 'score': 10.99}, {'connected_gene': 'RNU7-64P', 'score': 10.65}, {'connected_gene': 'RN7SL251P', 'score': 10.65}, {'connected_gene': 'GGCX', 'score': 0.39}]
chr2	GH02I085549	85547686	85547827	0.69	[{'connected_gene': 'GC02P085546', 'score': 550.77}, {'connected_gene': 'VAMP8', 'score': 14.87}, {'connected_gene': 'SH2D6', 'score': 12.25}, {'connected_gene': 'CAPG', 'score': 12.25}, {'connected_gene': 'TMEM150A', 'score': 10.99}, {'connected_gene': 'USP39', 'score': 10.99}, {'connected_gene': 'RNU7-64P', 'score': 10.65}, {'connected_gene': 'RN7SL251P', 'score': 10.65}, {'connected_gene': 'GGCX', 'score': 0.39}]
chr2	GH02I085536	85536321	85543199	2.57	[{'connected_gene': 'PIR40998', 'score': 550.77}, {'connected_gene': 'PIR39955', 'score': 550.77}, {'connected_gene': 'GC02M085541', 'score': 550.77}, {'connected_gene': 'MAT2A', 'score': 550.77}, {'connected_gene': 'PARTICL', 'score': 550.77}, {'connected_gene': 'SNORD94', 'score': 69.04}, {'connected_gene': 'USP39', 'score': 60.19}, {'connected_gene': 'C2orf68', 'score': 43.46}, {'connected_gene': 'LOC100996506', 'score': 29.83}, {'connected_gene': 'ELMOD3', 'score': 28.72}, {'connected_gene': 'KDM3A', 'score': 26.41}, {'connected_gene': 'VAMP8', 'score': 18.58}, {'connected_gene': 'GGCX', 'score': 17.58}, {'connected_gene': 'SH2D6', 'score': 13.9}, {'connected_gene': 'CAPG', 'score': 12.79}, {'connected_gene': 'RNU7-64P', 'score': 11.49}, {'connected_gene': 'RN7SL251P', 'score': 11.49}, {'connected_gene': 'TCF7L1', 'score': 9.91}, {'connected_gene': 'TMSB10', 'score': 4.67}]
chr2	GH02I085545	85545938	85547167	1	[{'connected_gene': 'GC02P085546', 'score': 550.77}, {'connected_gene': 'GC02P085544', 'score': 550.77}, {'connected_gene': 'USP39', 'score': 32.72}, {'connected_gene': 'GGCX', 'score': 16.86}, {'connected_gene': 'SNORD94', 'score': 13.7}, {'connected_gene': 'KDM3A', 'score': 12.61}, {'connected_gene': 'SH2D6', 'score': 12.25}, {'connected_gene': 'CAPG', 'score': 12.25}, {'connected_gene': 'TMEM150A', 'score': 10.99}, {'connected_gene': 'RNU7-64P', 'score': 10.65}, {'connected_gene': 'RN7SL251P', 'score': 10.65}, {'connected_gene': 'ELMOD3', 'score': 10.28}, {'connected_gene': 'VAMP8', 'score': 6.59}, {'connected_gene': 'TMSB10', 'score': 4.67}]