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
ENST00000317508	[[31142755, 31143656], [31143749, 31143916], [31144002, 31144274], [31144546, 31144709], [31146474, 31146492], [31146734, 31147083]]	[[31143329, 31143656], [31143749, 31143916], [31144002, 31144274], [31144546, 31144709], [31146474, 31146492], [31146734, 31146819]]
ENST00000568261	[[31143214, 31143656], [31143749, 31143916], [31144002, 31144201], [31144635, 31144709], [31146474, 31146492], [31146734, 31147048]]	[[31143329, 31143656], [31143749, 31143916], [31144002, 31144201], [31144635, 31144709], [31146474, 31146492], [31146734, 31146819]]
ENST00000567531	[[31143759, 31143916], [31144002, 31144166], [31144546, 31144709], [31146474, 31146492], [31146734, 31146961]]	[[31143759, 31143916], [31144002, 31144166], [31144546, 31144709], [31146474, 31146492], [31146734, 31146819]]
ENST00000567797	[[31144199, 31144274], [31144546, 31144709], [31146734, 31147048]]	[[31144199, 31144274], [31144546, 31144709], [31146734, 31146819]]
ENST00000564025	[[31144520, 31144709], [31146474, 31146492], [31146734, 31147048]]	None
ENST00000567833	[[31145362, 31146492], [31146734, 31147024]]	None
NM_002773	[[31142753, 31143656], [31143749, 31143916], [31144002, 31144274], [31144546, 31144709], [31146474, 31146492], [31146734, 31147083]]	[[31143329, 31143656], [31143749, 31143916], [31144002, 31144274], [31144546, 31144709], [31146474, 31146492], [31146734, 31146819]]

Promoter

Chrom	Start	End	Description
chr16	31147002	31147017	CAGE_peak_2_at_PRSS8_5end
chr16	31147020	31147058	CAGE_peak_1_at_PRSS8_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I031137	31137991	31143150	1.96	[{'connected_gene': 'KAT8', 'score': 21.74}, {'connected_gene': 'STX1B', 'score': 4.95}, {'connected_gene': 'ENSG00000260304', 'score': 4.77}, {'connected_gene': 'PRSS8', 'score': 0.77}, {'connected_gene': 'PRSS36', 'score': 0.44}]
chr16	GH16I031333	31333800	31333949	0.9	[{'connected_gene': 'ITGAX', 'score': 12.19}, {'connected_gene': 'TRIM72', 'score': 11.79}, {'connected_gene': 'PYCARD', 'score': 11.78}, {'connected_gene': 'PRSS8', 'score': 11.05}, {'connected_gene': 'ITGAM', 'score': 0.19}]
chr16	GH16I031259	31259535	31261021	1.57	[{'connected_gene': 'ITGAM', 'score': 550.77}, {'connected_gene': 'PYDC1', 'score': 31.87}, {'connected_gene': 'PYCARD', 'score': 11.92}, {'connected_gene': 'PRSS36', 'score': 10.65}, {'connected_gene': 'PRSS8', 'score': 10.14}, {'connected_gene': 'ITGAX', 'score': 0.16}]
chr16	GH16I031176	31176738	31177800	0.72	[{'connected_gene': 'PYCARD', 'score': 22.48}, {'connected_gene': 'PRSS36', 'score': 12.71}, {'connected_gene': 'PRSS8', 'score': 12.11}, {'connected_gene': 'TRIM72', 'score': 11.0}, {'connected_gene': 'HSD3B7', 'score': 10.98}, {'connected_gene': 'SETD1A', 'score': 10.97}, {'connected_gene': 'ZNF646', 'score': 10.64}, {'connected_gene': 'ZNF668', 'score': 10.64}, {'connected_gene': 'FUS', 'score': 0.77}, {'connected_gene': 'NDUFA3P6', 'score': 0.77}]
chr16	GH16I031188	31187723	31187749	0.31	[{'connected_gene': 'PYDC1', 'score': 11.43}, {'connected_gene': 'PRSS8', 'score': 11.42}, {'connected_gene': 'PRSS36', 'score': 11.27}, {'connected_gene': 'SETD1A', 'score': 10.16}, {'connected_gene': 'HSD3B7', 'score': 9.87}, {'connected_gene': 'PIR50410', 'score': 0.77}, {'connected_gene': 'FUS', 'score': 0.44}, {'connected_gene': 'PIR60441', 'score': 0.44}]
chr16	GH16I031187	31187798	31189909	0.57	[{'connected_gene': 'PYDC1', 'score': 11.43}, {'connected_gene': 'PRSS8', 'score': 11.42}, {'connected_gene': 'PRSS36', 'score': 11.27}, {'connected_gene': 'PYCARD', 'score': 10.93}, {'connected_gene': 'SETD1A', 'score': 10.16}, {'connected_gene': 'HSD3B7', 'score': 9.87}, {'connected_gene': 'PIR50410', 'score': 0.77}, {'connected_gene': 'PIR60441', 'score': 0.77}, {'connected_gene': 'FUS', 'score': 0.44}]
chr16	GH16I031245	31245160	31246586	0.43	[{'connected_gene': 'PYDC1', 'score': 16.39}, {'connected_gene': 'PYCARD', 'score': 12.32}, {'connected_gene': 'TRIM72', 'score': 12.25}, {'connected_gene': 'FUS', 'score': 10.65}, {'connected_gene': 'PRSS8', 'score': 10.6}, {'connected_gene': 'GC16P031244', 'score': 0.77}, {'connected_gene': 'ITGAM', 'score': 0.39}]
chr16	GH16I031178	31178498	31183169	2.14	[{'connected_gene': 'FUS', 'score': 587.91}, {'connected_gene': 'SRCAP', 'score': 70.92}, {'connected_gene': 'SETD1A', 'score': 66.98}, {'connected_gene': 'SMG1P5', 'score': 54.83}, {'connected_gene': 'ZNF764', 'score': 51.91}, {'connected_gene': 'ENSG00000260267', 'score': 47.4}, {'connected_gene': 'PRR14', 'score': 47.37}, {'connected_gene': 'RNF40', 'score': 45.46}, {'connected_gene': 'ENSG00000260304', 'score': 37.47}, {'connected_gene': 'FBRS', 'score': 36.32}, {'connected_gene': 'ZNF646', 'score': 33.91}, {'connected_gene': 'PYCARD', 'score': 32.36}, {'connected_gene': 'C16orf58', 'score': 31.34}, {'connected_gene': 'ZNF668', 'score': 29.02}, {'connected_gene': 'ORAI3', 'score': 26.43}, {'connected_gene': 'SLX1A', 'score': 25.19}, {'connected_gene': 'ENSG00000235560', 'score': 22.43}, {'connected_gene': 'STX4', 'score': 21.82}, {'connected_gene': 'PHKG2', 'score': 21.61}, {'connected_gene': 'BCL7C', 'score': 18.88}, {'connected_gene': 'ENSG00000260625', 'score': 18.58}, {'connected_gene': 'ZNF785', 'score': 16.6}, {'connected_gene': 'PYDC1', 'score': 16.36}, {'connected_gene': 'ZNF771', 'score': 13.07}, {'connected_gene': 'PRSS36', 'score': 12.69}, {'connected_gene': 'NPIPB13', 'score': 12.51}, {'connected_gene': 'PRSS8', 'score': 12.1}, {'connected_gene': 'LOC730183', 'score': 11.26}, {'connected_gene': 'ZNF688', 'score': 11.21}, {'connected_gene': 'ZNF689', 'score': 11.14}, {'connected_gene': 'TRIM72', 'score': 11.02}, {'connected_gene': 'HSD3B7', 'score': 10.98}, {'connected_gene': 'ZNF768', 'score': 10.76}, {'connected_gene': 'FBXL19', 'score': 10.37}, {'connected_gene': 'ZNF720', 'score': 10.24}, {'connected_gene': 'MIR762HG', 'score': 10.19}, {'connected_gene': 'KAT8', 'score': 10.14}, {'connected_gene': 'ENSG00000262766', 'score': 9.99}]
chr16	GH16I031367	31367601	31368466	0.51	[{'connected_gene': 'PRSS36', 'score': 10.69}, {'connected_gene': 'PRSS8', 'score': 10.49}, {'connected_gene': 'ITGAX', 'score': 6.25}, {'connected_gene': 'GC16M031365', 'score': 0.77}, {'connected_gene': 'LOC100422479', 'score': 0.44}]
chr16	GH16I031148	31148175	31151154	1.48	[{'connected_gene': 'PRSS36', 'score': 550.77}, {'connected_gene': 'ENSG00000260911', 'score': 14.68}, {'connected_gene': 'PRSS8', 'score': 0.39}]
chr16	GH16I031404	31404146	31405309	1.06	[{'connected_gene': 'COX6A2', 'score': 12.93}, {'connected_gene': 'ARMC5', 'score': 11.09}, {'connected_gene': 'PRSS8', 'score': 11.08}, {'connected_gene': 'PRSS36', 'score': 11.05}, {'connected_gene': 'PYCARD', 'score': 10.54}, {'connected_gene': 'STX4', 'score': 10.18}, {'connected_gene': 'STX1B', 'score': 10.0}, {'connected_gene': 'ENSG00000260740', 'score': 9.61}, {'connected_gene': 'ENSG00000260757', 'score': 0.77}, {'connected_gene': 'ITGAD', 'score': 0.39}, {'connected_gene': 'ENSG00000277543', 'score': 0.34}]
chr16	GH16I031427	31427150	31431668	1.88	[{'connected_gene': 'COX6A2', 'score': 550.77}, {'connected_gene': 'ENSG00000277543', 'score': 550.77}, {'connected_gene': 'ARMC5', 'score': 24.01}, {'connected_gene': 'FUS', 'score': 23.87}, {'connected_gene': 'ENSG00000260740', 'score': 17.95}, {'connected_gene': 'ZNF785', 'score': 17.32}, {'connected_gene': 'C16orf58', 'score': 15.82}, {'connected_gene': 'MIR762HG', 'score': 12.99}, {'connected_gene': 'ZNF720', 'score': 12.17}, {'connected_gene': 'SETD1A', 'score': 11.29}, {'connected_gene': 'PYDC1', 'score': 11.19}, {'connected_gene': 'PRSS8', 'score': 10.86}, {'connected_gene': 'ZNF747', 'score': 10.69}, {'connected_gene': 'PYCARD', 'score': 10.6}, {'connected_gene': 'PRSS36', 'score': 10.52}, {'connected_gene': 'LOC730183', 'score': 10.48}, {'connected_gene': 'ENSG00000261474', 'score': 10.36}, {'connected_gene': 'ZNF646', 'score': 9.99}, {'connected_gene': 'ZNF668', 'score': 9.99}, {'connected_gene': 'ZNF843', 'score': 6.93}, {'connected_gene': 'CLUHP3', 'score': 3.95}]
chr16	GH16I031399	31399801	31400600	0.46	[{'connected_gene': 'COX6A2', 'score': 12.9}, {'connected_gene': 'PRSS8', 'score': 11.08}, {'connected_gene': 'ARMC5', 'score': 11.08}, {'connected_gene': 'PRSS36', 'score': 11.05}, {'connected_gene': 'PYCARD', 'score': 10.54}, {'connected_gene': 'STX4', 'score': 10.18}, {'connected_gene': 'STX1B', 'score': 10.0}, {'connected_gene': 'ENSG00000260740', 'score': 7.39}, {'connected_gene': 'ENSG00000260757', 'score': 0.77}, {'connected_gene': 'ITGAD', 'score': 0.44}, {'connected_gene': 'GC16P031393', 'score': 0.44}]
chr16	GH16I031001	31001623	31004078	1.01	[{'connected_gene': 'GC16P031002', 'score': 550.77}, {'connected_gene': 'GC16P031001', 'score': 550.77}, {'connected_gene': 'KAT8', 'score': 19.64}, {'connected_gene': 'ZNF668', 'score': 11.94}, {'connected_gene': 'STX4', 'score': 11.66}, {'connected_gene': 'SETD1A', 'score': 11.65}, {'connected_gene': 'ZNF646', 'score': 11.48}, {'connected_gene': 'HSD3B7', 'score': 10.77}, {'connected_gene': 'PRSS36', 'score': 10.74}, {'connected_gene': 'PRSS8', 'score': 10.23}, {'connected_gene': 'FUS', 'score': 10.1}, {'connected_gene': 'STX1B', 'score': 0.44}]
chr16	GH16I031125	31125779	31136497	2.72	[{'connected_gene': 'ENSG00000261385', 'score': 550.77}, {'connected_gene': 'PRSS8', 'score': 550.77}, {'connected_gene': 'SRCAP', 'score': 59.99}, {'connected_gene': 'SETD1A', 'score': 48.02}, {'connected_gene': 'ENSG00000260267', 'score': 47.25}, {'connected_gene': 'SMG1P5', 'score': 42.93}, {'connected_gene': 'ZNF764', 'score': 39.77}, {'connected_gene': 'ENSG00000260304', 'score': 37.67}, {'connected_gene': 'KAT8', 'score': 33.43}, {'connected_gene': 'BCL7C', 'score': 33.01}, {'connected_gene': 'ZNF646', 'score': 28.34}, {'connected_gene': 'TGFB1I1', 'score': 23.95}, {'connected_gene': 'ITGAX', 'score': 21.8}, {'connected_gene': 'FUS', 'score': 19.68}, {'connected_gene': 'ITGAM', 'score': 18.52}, {'connected_gene': 'FBRS', 'score': 17.89}, {'connected_gene': 'ORAI3', 'score': 17.81}, {'connected_gene': 'ZNF668', 'score': 16.78}, {'connected_gene': 'PRR14', 'score': 15.66}, {'connected_gene': 'NPIPB13', 'score': 11.16}, {'connected_gene': 'ZNF689', 'score': 11.14}, {'connected_gene': 'ENSG00000262766', 'score': 11.07}, {'connected_gene': 'ZNF768', 'score': 10.76}, {'connected_gene': 'ENSG00000235560', 'score': 10.37}, {'connected_gene': 'C16orf58', 'score': 10.15}, {'connected_gene': 'STX4', 'score': 8.7}, {'connected_gene': 'HSD3B7', 'score': 7.67}, {'connected_gene': 'PYCARD', 'score': 6.61}, {'connected_gene': 'ENSG00000260911', 'score': 5.03}, {'connected_gene': 'ENSG00000260487', 'score': 4.54}, {'connected_gene': 'ARMC5', 'score': 2.86}, {'connected_gene': 'PHKG2', 'score': 1.96}, {'connected_gene': 'ENSG00000278133', 'score': 0.44}]
chr16	GH16I031243	31243832	31244800	0.97	[{'connected_gene': 'GC16P031244', 'score': 550.77}, {'connected_gene': 'PYDC1', 'score': 29.58}, {'connected_gene': 'PYCARD', 'score': 12.32}, {'connected_gene': 'TRIM72', 'score': 12.25}, {'connected_gene': 'FUS', 'score': 10.65}, {'connected_gene': 'PRSS8', 'score': 10.61}, {'connected_gene': 'ZNF764', 'score': 7.48}, {'connected_gene': 'ITGAM', 'score': 0.37}]