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
ENST00000480058	[[4021500, 4021700], [4031792, 4032989], [4037630, 4037804], [4041005, 4041161], [4042720, 4042802], [4044046, 4044257], [4047408, 4047482], [4049249, 4049340], [4049965, 4050113], [4052190, 4052328], [4052953, 4053107], [4056554, 4056669], [4057269, 4057421], [4058961, 4059048], [4060646, 4062533], [4063307, 4065216]]	[[4021659, 4021700], [4031792, 4032989], [4037630, 4037804], [4041005, 4041161], [4042720, 4042802], [4044046, 4044257], [4047408, 4047482], [4049249, 4049340], [4049965, 4050113], [4052190, 4052328], [4052953, 4053107], [4056554, 4056669], [4057269, 4057421], [4058961, 4059048], [4060646, 4060850]]
ENST00000481109	[[4037652, 4037804], [4041005, 4041161], [4042720, 4042802], [4044046, 4044257], [4047408, 4047482], [4049249, 4049340], [4049965, 4050113], [4052190, 4052328], [4052953, 4053107], [4056554, 4056669], [4057269, 4057421], [4058961, 4059048], [4060646, 4060878], [4061248, 4061381], [4061888, 4061934], [4062446, 4062533], [4062790, 4062867], [4063307, 4063353], [4065034, 4065217]]	[[4037652, 4037804], [4041005, 4041161], [4042720, 4042802], [4044046, 4044257], [4047408, 4047482], [4049249, 4049340], [4049965, 4050113], [4052190, 4052328], [4052953, 4053107], [4056554, 4056669], [4057269, 4057421], [4058961, 4059048], [4060646, 4060850]]
ENST00000463634	[[4041082, 4041161], [4042720, 4042802], [4044046, 4044257], [4047408, 4047482], [4049249, 4049340], [4049965, 4050113], [4052190, 4052328], [4052953, 4053107], [4056554, 4056669], [4056760, 4056922], [4057269, 4057421], [4058961, 4059048], [4060646, 4061381], [4061888, 4061934], [4062446, 4062533], [4063307, 4063353], [4065034, 4065217]]	None
ENST00000494674	[[4057393, 4057421], [4058961, 4059048], [4060646, 4060920], [4061248, 4061381], [4061888, 4062533], [4062790, 4062867], [4063307, 4063790]]	None
ENST00000461612	[[4062337, 4062533], [4062790, 4062994], [4063307, 4063353], [4065034, 4065217]]	None
ENST00000337659	[[4021559, 4021700], [4031792, 4032989], [4037630, 4037804], [4041005, 4041161], [4042720, 4042802], [4044046, 4044257], [4047408, 4047482], [4049249, 4049340], [4049965, 4050113], [4052190, 4052328], [4052953, 4053107], [4056554, 4056669], [4057269, 4057421], [4058961, 4059048], [4060646, 4062141]]	[[4021659, 4021700], [4031792, 4032989], [4037630, 4037804], [4041005, 4041161], [4042720, 4042802], [4044046, 4044257], [4047408, 4047482], [4049249, 4049340], [4049965, 4050113], [4052190, 4052328], [4052953, 4053107], [4056554, 4056669], [4057269, 4057421], [4058961, 4059048], [4060646, 4060850]]
ENST00000538861	[[4021926, 4022083], [4031792, 4032989], [4037630, 4037804], [4041005, 4041161], [4042720, 4042802], [4044046, 4044257], [4047408, 4047482], [4049249, 4049340], [4049965, 4050113], [4052190, 4052328], [4052953, 4053107], [4056554, 4056669], [4057269, 4057421], [4058961, 4059048], [4060646, 4060926]]	[[4031793, 4032989], [4037630, 4037804], [4041005, 4041161], [4042720, 4042802], [4044046, 4044257], [4047408, 4047482], [4049249, 4049340], [4049965, 4050113], [4052190, 4052328], [4052953, 4053107], [4056554, 4056669], [4057269, 4057421], [4058961, 4059048], [4060646, 4060850]]
ENST00000490399	[[4041081, 4041161], [4042720, 4042802], [4044046, 4044460]]	None
ENST00000466185	[[4052215, 4052328], [4052953, 4053107], [4056554, 4057421], [4058961, 4059124]]	None
ENST00000490653	[[4061215, 4061381], [4061888, 4062303]]	None
NM_003913	[[4021568, 4021700], [4031792, 4032989], [4037630, 4037804], [4041005, 4041161], [4042720, 4042802], [4044046, 4044257], [4047408, 4047482], [4049249, 4049340], [4049965, 4050113], [4052190, 4052328], [4052953, 4053107], [4056554, 4056669], [4057269, 4057421], [4058961, 4059048], [4060646, 4065217]]	[[4021659, 4021700], [4031792, 4032989], [4037630, 4037804], [4041005, 4041161], [4042720, 4042802], [4044046, 4044257], [4047408, 4047482], [4049249, 4049340], [4049965, 4050113], [4052190, 4052328], [4052953, 4053107], [4056554, 4056669], [4057269, 4057421], [4058961, 4059048], [4060646, 4060850]]

Promoter

Chrom	Start	End	Description
chr6	4021432	4021447	CAGE_peak_7_at_PRPF4B_5end
chr6	4021464	4021476	CAGE_peak_6_at_PRPF4B_5end
chr6	4021503	4021522	CAGE_peak_3_at_PRPF4B_5end
chr6	4021527	4021553	CAGE_peak_2_at_PRPF4B_5end
chr6	4021554	4021656	CAGE_peak_1_at_PRPF4B_5end
chr6	4031788	4031809	CAGE_peak_4_at_PRPF4B_5end
chr6	4031824	4031846	CAGE_peak_5_at_PRPF4B_5end
chr6	4032193	4032197	CAGE_peak_8_at_PRPF4B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I004343	4343264	4346162	0.72	[{'connected_gene': 'CDYL', 'score': 31.56}, {'connected_gene': 'PRPF4B', 'score': 15.64}, {'connected_gene': 'LYRM4-AS1', 'score': 12.19}, {'connected_gene': 'FARS2', 'score': 10.53}, {'connected_gene': 'PSMC1P11', 'score': 9.9}, {'connected_gene': 'LOC101927888', 'score': 0.77}, {'connected_gene': 'GC06P004318', 'score': 0.31}, {'connected_gene': 'PIR45023', 'score': 0.31}]
chr6	GH06I004774	4774523	4778535	2.27	[{'connected_gene': 'CDYL', 'score': 561.97}, {'connected_gene': 'LOC101927913', 'score': 550.77}, {'connected_gene': 'PRPF4B', 'score': 51.22}, {'connected_gene': 'LYRM4', 'score': 9.96}, {'connected_gene': 'GC06P004847', 'score': 0.19}]
chr6	GH06I004726	4726634	4729062	1.19	[{'connected_gene': 'PRPF4B', 'score': 13.06}, {'connected_gene': 'CDYL', 'score': 12.15}, {'connected_gene': 'PSMC1P11', 'score': 12.12}, {'connected_gene': 'LYRM4-AS1', 'score': 10.31}, {'connected_gene': 'LOC101927913', 'score': 0.25}, {'connected_gene': 'GC06P004491', 'score': 0.07}]
chr6	GH06I004316	4316244	4323840	1.72	[{'connected_gene': 'PRPF4B', 'score': 41.28}, {'connected_gene': 'CDYL', 'score': 35.9}, {'connected_gene': 'C6orf201', 'score': 19.23}, {'connected_gene': 'LYRM4-AS1', 'score': 9.97}, {'connected_gene': 'ENSG00000270504', 'score': 9.89}, {'connected_gene': 'GC06P004318', 'score': 0.77}, {'connected_gene': 'PIR45023', 'score': 0.77}, {'connected_gene': 'LOC101927888', 'score': 0.31}]
chr6	GH06I003472	3472580	3473600	1.13	[{'connected_gene': 'PRPF4B', 'score': 28.94}, {'connected_gene': 'RIPK1', 'score': 20.11}, {'connected_gene': 'GC06P003478', 'score': 0.44}, {'connected_gene': 'LOC643327', 'score': 0.39}]
chr6	GH06I003347	3347192	3348584	0.8	[{'connected_gene': 'PRPF4B', 'score': 24.45}, {'connected_gene': 'RIPK1', 'score': 14.62}, {'connected_gene': 'GC06M003328', 'score': 0.37}, {'connected_gene': 'GC06M003358', 'score': 0.22}, {'connected_gene': 'SLC22A23', 'score': 0.14}]
chr6	GH06I003334	3334146	3335088	0.85	[{'connected_gene': 'PRPF4B', 'score': 15.21}, {'connected_gene': 'RIPK1', 'score': 10.19}, {'connected_gene': 'GC06M003328', 'score': 0.44}, {'connected_gene': 'GC06M003358', 'score': 0.19}, {'connected_gene': 'SLC22A23', 'score': 0.13}]
chr6	GH06I003511	3511479	3511784	1.07	[{'connected_gene': 'PRPF4B', 'score': 44.39}, {'connected_gene': 'RIPK1', 'score': 17.16}, {'connected_gene': 'PSMG4', 'score': 13.62}, {'connected_gene': 'WRNIP1', 'score': 12.37}, {'connected_gene': 'ENSG00000272320', 'score': 10.22}, {'connected_gene': 'PIR56392', 'score': 0.77}, {'connected_gene': 'GC06P003478', 'score': 0.29}]
chr6	GH06I004017	4017047	4024005	2.34	[{'connected_gene': 'PRPF4B', 'score': 688.6}, {'connected_gene': 'ENSG00000230648', 'score': 559.88}, {'connected_gene': 'ENSG00000272248', 'score': 556.47}, {'connected_gene': 'RIPK1', 'score': 71.7}, {'connected_gene': 'PSMG4', 'score': 52.93}, {'connected_gene': 'ENSG00000228170', 'score': 24.88}, {'connected_gene': 'C6orf201', 'score': 23.56}, {'connected_gene': 'ENSG00000272320', 'score': 19.86}, {'connected_gene': 'CDYL', 'score': 10.94}, {'connected_gene': 'FAM50B', 'score': 10.89}]
chr6	GH06I003767	3767600	3767801	0.84	[{'connected_gene': 'PRPF4B', 'score': 20.02}, {'connected_gene': 'RIPK1', 'score': 11.05}, {'connected_gene': 'GC06P003775', 'score': 0.44}, {'connected_gene': 'ENSG00000219992', 'score': 0.39}]
chr6	GH06I004647	4647201	4648396	1.24	[{'connected_gene': 'PRPF4B', 'score': 24.45}, {'connected_gene': 'PSMC1P11', 'score': 10.26}, {'connected_gene': 'CDYL', 'score': 10.25}, {'connected_gene': 'PIR31801', 'score': 0.29}, {'connected_gene': 'KU-MEL-3', 'score': 0.28}, {'connected_gene': 'GC06P004491', 'score': 0.1}]
chr6	GH06I004809	4809934	4812537	1.18	[{'connected_gene': 'PRPF4B', 'score': 30.21}, {'connected_gene': 'C6orf201', 'score': 19.75}, {'connected_gene': 'LOC442155', 'score': 13.01}, {'connected_gene': 'FAM50B', 'score': 10.82}, {'connected_gene': 'GC06P004847', 'score': 0.28}, {'connected_gene': 'LOC101927913', 'score': 0.28}, {'connected_gene': 'CDYL', 'score': 0.14}]
chr6	GH06I003337	3337202	3342717	1.43	[{'connected_gene': 'PRPF4B', 'score': 35.42}, {'connected_gene': 'PSMG4', 'score': 21.97}, {'connected_gene': 'SLC22A23', 'score': 11.12}, {'connected_gene': 'RIPK1', 'score': 10.19}, {'connected_gene': 'TUBB2B', 'score': 9.9}, {'connected_gene': 'ENSG00000272320', 'score': 5.99}, {'connected_gene': 'WRNIP1', 'score': 5.47}, {'connected_gene': 'GC06M003328', 'score': 0.39}, {'connected_gene': 'GC06M003358', 'score': 0.2}]
chr6	GH06I003501	3501427	3501757	0.38	[{'connected_gene': 'PRPF4B', 'score': 17.7}, {'connected_gene': 'PSMG4', 'score': 13.05}, {'connected_gene': 'SLC22A23', 'score': 11.88}, {'connected_gene': 'C6orf201', 'score': 11.34}, {'connected_gene': 'PIR56392', 'score': 0.39}, {'connected_gene': 'GC06P003478', 'score': 0.34}]
chr6	GH06I003500	3500312	3501356	0.84	[{'connected_gene': 'PRPF4B', 'score': 17.7}, {'connected_gene': 'PSMG4', 'score': 13.05}, {'connected_gene': 'C6orf201', 'score': 11.34}, {'connected_gene': 'PIR56392', 'score': 0.39}, {'connected_gene': 'GC06P003478', 'score': 0.34}]
chr6	GH06I003996	3996444	3998254	0.54	[{'connected_gene': 'PRPF4B', 'score': 11.64}, {'connected_gene': 'ENSG00000230648', 'score': 11.64}, {'connected_gene': 'FAM50B', 'score': 10.47}, {'connected_gene': 'C6orf201', 'score': 5.32}, {'connected_gene': 'GC06M003999', 'score': 0.77}, {'connected_gene': 'ENSG00000279926', 'score': 0.39}]
chr6	GH06I003735	3735844	3741907	0.57	[{'connected_gene': 'PRPF4B', 'score': 16.2}, {'connected_gene': 'ENSG00000219992', 'score': 12.45}, {'connected_gene': 'LOC100507336', 'score': 11.58}, {'connected_gene': 'ENSG00000270504', 'score': 0.39}, {'connected_gene': 'PXDC1', 'score': 0.39}]
chr6	GH06I004027	4027636	4028561	0.38	[{'connected_gene': 'PRPF4B', 'score': 0.44}, {'connected_gene': 'GC06M004041', 'score': 0.37}]
chr6	GH06I003156	3156309	3167906	2.78	[{'connected_gene': 'TUBB2A', 'score': 63.25}, {'connected_gene': 'TUBB2B', 'score': 53.37}, {'connected_gene': 'TUBB2BP1', 'score': 39.52}, {'connected_gene': 'PSMG4', 'score': 32.39}, {'connected_gene': 'PRPF4B', 'score': 25.57}, {'connected_gene': 'C6orf201', 'score': 11.34}, {'connected_gene': 'RIPK1', 'score': 11.2}, {'connected_gene': 'BPHL', 'score': 10.89}, {'connected_gene': 'LOC105374889', 'score': 0.77}, {'connected_gene': 'GC06P003150', 'score': 0.39}, {'connected_gene': 'GC06M003095', 'score': 0.31}]
chr6	GH06I003377	3377034	3385949	1.76	[{'connected_gene': 'SLC22A23', 'score': 15.91}, {'connected_gene': 'PSMG4', 'score': 14.91}, {'connected_gene': 'PRPF4B', 'score': 14.79}, {'connected_gene': 'ENSG00000272320', 'score': 11.69}, {'connected_gene': 'ENSG00000228170', 'score': 11.45}, {'connected_gene': 'C6orf201', 'score': 4.65}, {'connected_gene': 'GC06M003358', 'score': 0.34}, {'connected_gene': 'GC06M003328', 'score': 0.23}]
chr6	GH06I004109	4109607	4109756	0.82	[{'connected_gene': 'C6orf201', 'score': 22.87}, {'connected_gene': 'ENSG00000254821', 'score': 12.35}, {'connected_gene': 'ECI2', 'score': 12.35}, {'connected_gene': 'LOC100507506', 'score': 12.35}, {'connected_gene': 'FAM217A', 'score': 11.9}, {'connected_gene': 'PSMG4', 'score': 11.76}, {'connected_gene': 'PRPF4B', 'score': 9.83}, {'connected_gene': 'GC06P004125', 'score': 0.37}, {'connected_gene': 'GC06M004088', 'score': 0.34}]
chr6	GH06I003021	3021890	3027718	1.78	[{'connected_gene': 'HTATSF1P2', 'score': 631.33}, {'connected_gene': 'LOC101927759', 'score': 550.77}, {'connected_gene': 'NQO2', 'score': 39.78}, {'connected_gene': 'PRPF4B', 'score': 33.02}, {'connected_gene': 'RIPK1', 'score': 29.61}, {'connected_gene': 'LINC01011', 'score': 11.38}, {'connected_gene': 'BPHL', 'score': 10.76}, {'connected_gene': 'ENSG00000272277', 'score': 8.18}, {'connected_gene': 'GC06P002980', 'score': 0.26}]
chr6	GH06I003418	3418021	3421000	1.37	[{'connected_gene': 'PSMG4', 'score': 12.3}, {'connected_gene': 'PRPF4B', 'score': 12.14}, {'connected_gene': 'SLC22A23', 'score': 6.55}, {'connected_gene': 'SERPINB1', 'score': 5.65}, {'connected_gene': 'LOC105374890', 'score': 0.44}, {'connected_gene': 'GC06M003429', 'score': 0.39}]
chr6	GH06I003612	3612009	3613477	0.97	[{'connected_gene': 'PSMG4', 'score': 36.57}, {'connected_gene': 'PRPF4B', 'score': 34.14}, {'connected_gene': 'C6orf201', 'score': 13.5}, {'connected_gene': 'FAM217A', 'score': 12.09}, {'connected_gene': 'WRNIP1', 'score': 9.84}, {'connected_gene': 'GC06P003631', 'score': 0.37}, {'connected_gene': 'GC06M003534', 'score': 0.28}, {'connected_gene': 'LOC100507336', 'score': 0.14}]
chr6	GH06I003591	3591528	3593357	1.31	[{'connected_gene': 'PSMG4', 'score': 12.27}, {'connected_gene': 'PRPF4B', 'score': 12.15}, {'connected_gene': 'GC06M003534', 'score': 0.37}, {'connected_gene': 'GC06P003631', 'score': 0.28}, {'connected_gene': 'LOC100507336', 'score': 0.13}]
chr6	GH06I003230	3230907	3232385	1.48	[{'connected_gene': 'PSMG4', 'score': 564.1}, {'connected_gene': 'TUBB2B', 'score': 550.77}, {'connected_gene': 'PRPF4B', 'score': 12.31}]
chr6	GH06I004487	4487218	4488243	0.73	[{'connected_gene': 'LINC02533', 'score': 550.77}, {'connected_gene': 'GC06P004487', 'score': 550.77}, {'connected_gene': 'PRPF4B', 'score': 27.82}, {'connected_gene': 'PIR41581', 'score': 0.34}]
chr6	GH06I004356	4356843	4360020	2.14	[{'connected_gene': 'PIR46522', 'score': 550.77}, {'connected_gene': 'PRPF4B', 'score': 22.35}, {'connected_gene': 'CDYL', 'score': 8.15}, {'connected_gene': 'LOC101927888', 'score': 0.39}]
chr6	GH06I003052	3052801	3055200	1.44	[{'connected_gene': 'ENSG00000229282', 'score': 550.77}, {'connected_gene': 'PIR47178', 'score': 550.77}, {'connected_gene': 'ENSG00000272277', 'score': 46.01}, {'connected_gene': 'PRPF4B', 'score': 33.29}, {'connected_gene': 'WRNIP1', 'score': 13.35}, {'connected_gene': 'PSMG4', 'score': 12.16}, {'connected_gene': 'RIPK1', 'score': 11.04}, {'connected_gene': 'SERPINB8P1', 'score': 0.44}]
chr6	GH06I003067	3067528	3070337	1.77	[{'connected_gene': 'ENSG00000272277', 'score': 596.59}, {'connected_gene': 'PRPF4B', 'score': 17.69}, {'connected_gene': 'HTATSF1P2', 'score': 14.98}, {'connected_gene': 'PSMG4', 'score': 13.09}, {'connected_gene': 'BPHL', 'score': 12.72}, {'connected_gene': 'RIPK1', 'score': 0.77}, {'connected_gene': 'GC06P003076', 'score': 0.44}]
chr6	GH06I004061	4061607	4061942	0.4	[{'connected_gene': 'ENSG00000230648', 'score': 12.04}, {'connected_gene': 'PRPF4B', 'score': 12.04}, {'connected_gene': 'ENSG00000254821', 'score': 12.03}, {'connected_gene': 'ECI2', 'score': 12.03}, {'connected_gene': 'LOC100507506', 'score': 12.03}, {'connected_gene': 'FAM217A', 'score': 11.51}, {'connected_gene': 'GC06M004066', 'score': 0.77}, {'connected_gene': 'GC06M004041', 'score': 0.37}]
chr6	GH06I004368	4368976	4372164	1.33	[{'connected_gene': 'PIR42536', 'score': 550.77}, {'connected_gene': 'PRPF4B', 'score': 22.64}, {'connected_gene': 'PIR48930', 'score': 0.44}]
chr6	GH06I004055	4055066	4056351	0.7	[{'connected_gene': 'ENSG00000230648', 'score': 17.46}, {'connected_gene': 'C6orf201', 'score': 16.65}, {'connected_gene': 'FAM217A', 'score': 12.15}, {'connected_gene': 'PRPF4B', 'score': 12.04}, {'connected_gene': 'GC06M004041', 'score': 0.39}, {'connected_gene': 'GC06M004066', 'score': 0.39}]
chr6	GH06I003986	3986427	3986433	0.39	[{'connected_gene': 'ENSG00000219992', 'score': 11.45}, {'connected_gene': 'PXDC1', 'score': 11.45}, {'connected_gene': 'PRPF4B', 'score': 1.76}, {'connected_gene': 'ENSG00000279926', 'score': 0.77}, {'connected_gene': 'GC06M003999', 'score': 0.39}]
chr6	GH06I004057	4057800	4060651	0.94	[{'connected_gene': 'ENSG00000230648', 'score': 17.09}, {'connected_gene': 'ENSG00000254821', 'score': 11.88}, {'connected_gene': 'ECI2', 'score': 11.88}, {'connected_gene': 'LOC100507506', 'score': 11.88}, {'connected_gene': 'PRPF4B', 'score': 11.68}, {'connected_gene': 'FAM217A', 'score': 11.51}, {'connected_gene': 'ENSG00000272248', 'score': 5.35}, {'connected_gene': 'GC06M004066', 'score': 0.44}, {'connected_gene': 'GC06M004041', 'score': 0.37}]