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
ENST00000421351	[[138409641, 138413405], [138417490, 138417631], [138428263, 138428648]]	[[138413178, 138413405], [138417490, 138417631], [138428263, 138428477]]
NM_022121	[[138409641, 138413405], [138417490, 138417631], [138428263, 138428660]]	[[138413178, 138413405], [138417490, 138417631], [138428263, 138428477]]

Promoter

Chrom	Start	End	Description
chr6	138428283	138428292	CAGE_peak_11_at_PERP_5end
chr6	138428294	138428318	CAGE_peak_5_at_PERP_5end
chr6	138428324	138428337	CAGE_peak_4_at_PERP_5end
chr6	138428549	138428563	CAGE_peak_1_at_PERP_5end
chr6	138428580	138428599	CAGE_peak_2_at_PERP_5end
chr6	138428613	138428624	CAGE_peak_3_at_PERP_5end
chr6	138428809	138428834	CAGE_peak_7_at_PERP_5end
chr6	138428841	138428854	CAGE_peak_9_at_PERP_5end
chr6	138428938	138428953	CAGE_peak_8_at_PERP_5end
chr6	138428975	138428985	CAGE_peak_13_at_PERP_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I137683	137683974	137684261	0.5	[{'connected_gene': 'TNFAIP3', 'score': 21.88}, {'connected_gene': 'LOC100130476', 'score': 10.95}, {'connected_gene': 'PERP', 'score': 9.71}, {'connected_gene': 'LOC442263', 'score': 4.84}, {'connected_gene': 'IFNGR1', 'score': 3.83}, {'connected_gene': 'ENSG00000283265', 'score': 0.44}, {'connected_gene': 'LOC105378018', 'score': 0.39}, {'connected_gene': 'LOC102723649', 'score': 0.37}]
chr6	GH06I137696	137696608	137700261	1.62	[{'connected_gene': 'TNFAIP3', 'score': 23.29}, {'connected_gene': 'LOC100130476', 'score': 11.42}, {'connected_gene': 'PERP', 'score': 10.25}, {'connected_gene': 'LOC442263', 'score': 7.33}, {'connected_gene': 'HEBP2', 'score': 4.39}, {'connected_gene': 'IFNGR1', 'score': 3.75}, {'connected_gene': 'ENSG00000283265', 'score': 0.44}, {'connected_gene': 'LOC102723649', 'score': 0.29}]
chr6	GH06I137680	137680801	137682179	1.19	[{'connected_gene': 'TNFAIP3', 'score': 10.95}, {'connected_gene': 'LOC100130476', 'score': 10.95}, {'connected_gene': 'PERP', 'score': 9.71}, {'connected_gene': 'LOC442263', 'score': 6.5}, {'connected_gene': 'LOC105378018', 'score': 0.44}, {'connected_gene': 'ENSG00000283265', 'score': 0.39}, {'connected_gene': 'LOC102723649', 'score': 0.37}]
chr6	GH06I138287	138287380	138290029	0.93	[{'connected_gene': 'PERP', 'score': 11.2}, {'connected_gene': 'GC06P138340', 'score': 0.23}, {'connected_gene': 'PBOV1', 'score': 0.19}, {'connected_gene': 'ARFGEF3', 'score': 0.13}]
chr6	GH06I138297	138297791	138298753	0.65	[{'connected_gene': 'PERP', 'score': 10.56}, {'connected_gene': 'PBOV1', 'score': 10.4}, {'connected_gene': 'GC06P138340', 'score': 0.26}, {'connected_gene': 'ARFGEF3', 'score': 0.12}]
chr6	GH06I138223	138223986	138225001	0.31	[{'connected_gene': 'PERP', 'score': 10.38}, {'connected_gene': 'ARFGEF3', 'score': 5.64}, {'connected_gene': 'PBOV1', 'score': 0.44}, {'connected_gene': 'GC06P138340', 'score': 0.13}]
chr6	GH06I138222	138221788	138223138	0.9	[{'connected_gene': 'PERP', 'score': 10.39}, {'connected_gene': 'ARFGEF3', 'score': 6.65}, {'connected_gene': 'PBOV1', 'score': 0.77}, {'connected_gene': 'GC06P138340', 'score': 0.13}]
chr6	GH06I138177	138177773	138179782	0.2	[{'connected_gene': 'PERP', 'score': 10.73}, {'connected_gene': 'ARFGEF3', 'score': 0.37}, {'connected_gene': 'PBOV1', 'score': 0.28}]
chr6	GH06I138157	138157665	138158817	0.67	[{'connected_gene': 'PERP', 'score': 10.69}, {'connected_gene': 'ARFGEF3', 'score': 5.2}, {'connected_gene': 'GC06P138107', 'score': 0.23}]
chr6	GH06I138515	138515304	138515453	0.46	[{'connected_gene': 'PERP', 'score': 10.45}, {'connected_gene': 'FLJ46906', 'score': 10.26}, {'connected_gene': 'NHSL1', 'score': 10.26}, {'connected_gene': 'ENSG00000274594', 'score': 0.23}, {'connected_gene': 'LOC100129577', 'score': 0.12}]
chr6	GH06I138514	138514944	138515123	0.4	[{'connected_gene': 'PERP', 'score': 10.45}, {'connected_gene': 'FLJ46906', 'score': 10.26}, {'connected_gene': 'NHSL1', 'score': 10.26}, {'connected_gene': 'ENSG00000274594', 'score': 0.23}, {'connected_gene': 'LOC100129577', 'score': 0.12}]
chr6	GH06I138100	138099487	138109653	2.52	[{'connected_gene': 'PERP', 'score': 559.88}, {'connected_gene': 'HEBP2', 'score': 5.31}, {'connected_gene': 'ARFGEF3', 'score': 4.44}, {'connected_gene': 'GC06P138107', 'score': 0.77}, {'connected_gene': 'LOC105378021', 'score': 0.2}]
chr6	GH06I137614	137614575	137614957	0.4	[{'connected_gene': 'PERP', 'score': 9.42}, {'connected_gene': 'OLIG3', 'score': 9.24}, {'connected_gene': 'GC06M137552', 'score': 0.26}, {'connected_gene': 'BTF3L4P3', 'score': 0.19}]
chr6	GH06I138028	138028640	138029407	1.12	[{'connected_gene': 'PERP', 'score': 16.91}, {'connected_gene': 'LOC105378021', 'score': 0.44}, {'connected_gene': 'RPSAP42', 'score': 0.29}]
chr6	GH06I138026	138026058	138026849	0.2	[{'connected_gene': 'PERP', 'score': 10.98}, {'connected_gene': 'LOC105378021', 'score': 0.44}, {'connected_gene': 'RPSAP42', 'score': 0.29}]
chr6	GH06I138091	138091788	138093555	0.2	[{'connected_gene': 'PERP', 'score': 5.05}, {'connected_gene': 'LOC105378021', 'score': 0.22}]
chr6	GH06I138084	138084484	138091555	1.47	[{'connected_gene': 'PERP', 'score': 6.92}, {'connected_gene': 'LOC105378021', 'score': 0.23}]
chr6	GH06I138043	138043971	138044965	0.4	[{'connected_gene': 'PERP', 'score': 5.07}, {'connected_gene': 'LOC105378021', 'score': 0.44}]
chr6	GH06I138095	138095199	138096687	0.2	[{'connected_gene': 'PERP', 'score': 0.39}, {'connected_gene': 'LOC105378021', 'score': 0.21}]
chr6	GH06I138099	138099024	138099173	0.51	[{'connected_gene': 'PERP', 'score': 0.44}, {'connected_gene': 'LOC105378021', 'score': 0.21}]
chr6	GH06I138097	138097172	138098947	0.58	[{'connected_gene': 'PERP', 'score': 5.72}, {'connected_gene': 'LOC105378021', 'score': 0.21}]
chr6	GH06I138005	138005940	138006403	0.31	[{'connected_gene': 'PERP', 'score': 11.69}, {'connected_gene': 'RPSAP42', 'score': 0.39}, {'connected_gene': 'LOC105378021', 'score': 0.31}]
chr6	GH06I138001	138001884	138002053	0.7	[{'connected_gene': 'PERP', 'score': 12.16}, {'connected_gene': 'RPSAP42', 'score': 0.44}, {'connected_gene': 'LOC105378021', 'score': 0.29}]
chr6	GH06I138012	138012420	138014947	0.52	[{'connected_gene': 'PERP', 'score': 5.57}, {'connected_gene': 'RPSAP42', 'score': 0.37}, {'connected_gene': 'LOC105378021', 'score': 0.34}]
chr6	GH06I138006	138006498	138008021	1.15	[{'connected_gene': 'PERP', 'score': 6.97}, {'connected_gene': 'RPSAP42', 'score': 0.39}, {'connected_gene': 'LOC105378021', 'score': 0.31}]
chr6	GH06I138004	138004636	138005448	0.59	[{'connected_gene': 'PERP', 'score': 11.27}, {'connected_gene': 'RPSAP42', 'score': 0.44}, {'connected_gene': 'LOC105378021', 'score': 0.31}]
chr6	GH06I138521	138521783	138522200	0.58	[{'connected_gene': 'PERP', 'score': 10.88}, {'connected_gene': 'ENSG00000274594', 'score': 0.22}, {'connected_gene': 'LOC100129577', 'score': 0.13}, {'connected_gene': 'NHSL1', 'score': 0.09}]
chr6	GH06I138517	138517684	138517853	0.76	[{'connected_gene': 'PERP', 'score': 10.88}, {'connected_gene': 'ENSG00000274594', 'score': 0.23}, {'connected_gene': 'LOC100129577', 'score': 0.12}, {'connected_gene': 'NHSL1', 'score': 0.09}]
chr6	GH06I138522	138522401	138522800	0.31	[{'connected_gene': 'PERP', 'score': 10.88}, {'connected_gene': 'ENSG00000274594', 'score': 0.22}, {'connected_gene': 'LOC100129577', 'score': 0.13}, {'connected_gene': 'NHSL1', 'score': 0.09}]
chr6	GH06I138182	138182324	138184064	0.63	[{'connected_gene': 'PBOV1', 'score': 10.86}, {'connected_gene': 'PERP', 'score': 10.72}, {'connected_gene': 'ARFGEF3', 'score': 9.5}]
chr6	GH06I138496	138496456	138509800	2.14	[{'connected_gene': 'NHSL1', 'score': 562.67}, {'connected_gene': 'PERP', 'score': 10.14}, {'connected_gene': 'REPS1', 'score': 1.47}, {'connected_gene': 'ENSG00000274594', 'score': 0.28}, {'connected_gene': 'LOC100129577', 'score': 0.11}]
chr6	GH06I138535	138535339	138548109	2.1	[{'connected_gene': 'NHSL1', 'score': 26.58}, {'connected_gene': 'FLJ46906', 'score': 15.04}, {'connected_gene': 'PERP', 'score': 9.83}, {'connected_gene': 'HEBP2', 'score': 4.75}, {'connected_gene': 'PBOV1', 'score': 2.4}, {'connected_gene': 'ENSG00000274594', 'score': 0.18}, {'connected_gene': 'LOC100129577', 'score': 0.14}]
chr6	GH06I138588	138588800	138589200	1	[{'connected_gene': 'NHSL1', 'score': 16.24}, {'connected_gene': 'FLJ46906', 'score': 11.51}, {'connected_gene': 'PERP', 'score': 10.38}, {'connected_gene': 'LOC100129577', 'score': 0.21}, {'connected_gene': 'ENSG00000274594', 'score': 0.13}]
chr6	GH06I138426	138426031	138426951	0.2	[{'connected_gene': 'FLJ46906', 'score': 10.63}, {'connected_gene': 'NHSL1', 'score': 10.63}, {'connected_gene': 'PERP', 'score': 10.17}, {'connected_gene': 'HEBP2', 'score': 6.01}, {'connected_gene': 'MIR3145', 'score': 0.44}, {'connected_gene': 'PIR51373', 'score': 0.39}]
chr6	GH06I138429	138429064	138429253	0.66	[{'connected_gene': 'FLJ46906', 'score': 10.64}, {'connected_gene': 'NHSL1', 'score': 10.64}, {'connected_gene': 'PERP', 'score': 10.17}, {'connected_gene': 'MIR3145', 'score': 0.44}, {'connected_gene': 'PIR51373', 'score': 0.39}]
chr6	GH06I138559	138559789	138561758	0.98	[{'connected_gene': 'FLJ46906', 'score': 10.43}, {'connected_gene': 'NHSL1', 'score': 10.43}, {'connected_gene': 'PERP', 'score': 9.79}, {'connected_gene': 'LOC100129577', 'score': 0.16}, {'connected_gene': 'ENSG00000274594', 'score': 0.15}]
chr6	GH06I138661	138661890	138663443	0.72	[{'connected_gene': 'FLJ46906', 'score': 12.51}, {'connected_gene': 'NHSL1', 'score': 12.51}, {'connected_gene': 'PERP', 'score': 9.66}, {'connected_gene': 'LOC100129577', 'score': 0.39}]
chr6	GH06I138591	138591812	138596567	1.17	[{'connected_gene': 'FLJ46906', 'score': 23.09}, {'connected_gene': 'NHSL1', 'score': 17.37}, {'connected_gene': 'CCDC28A', 'score': 12.29}, {'connected_gene': 'PERP', 'score': 10.19}, {'connected_gene': 'LOC100129577', 'score': 0.22}, {'connected_gene': 'ENSG00000274594', 'score': 0.12}]
chr6	GH06I138590	138590984	138591153	0.79	[{'connected_gene': 'FLJ46906', 'score': 22.21}, {'connected_gene': 'CCDC28A', 'score': 12.29}, {'connected_gene': 'NHSL1', 'score': 12.21}, {'connected_gene': 'PERP', 'score': 10.19}, {'connected_gene': 'LOC100129577', 'score': 0.22}, {'connected_gene': 'ENSG00000274594', 'score': 0.13}]
chr6	GH06I138409	138409609	138412413	0.99	[{'connected_gene': 'HEBP2', 'score': 18.29}, {'connected_gene': 'PERP', 'score': 9.93}, {'connected_gene': 'FLJ46906', 'score': 9.66}, {'connected_gene': 'NHSL1', 'score': 9.66}, {'connected_gene': 'PIR51373', 'score': 0.77}, {'connected_gene': 'MARCKSL1P2', 'score': 0.44}]
chr6	GH06I138029	138029955	138036995	1.35	[{'connected_gene': 'LOC105378021', 'score': 550.77}, {'connected_gene': 'PERP', 'score': 10.52}, {'connected_gene': 'RPSAP42', 'score': 0.28}]
chr6	GH06I138037	138037024	138037213	0.97	[{'connected_gene': 'LOC105378021', 'score': 0.77}, {'connected_gene': 'PERP', 'score': 0.19}]
chr6	GH06I138582	138582724	138582873	0.76	[{'connected_gene': 'CITED2', 'score': 11.74}, {'connected_gene': 'PERP', 'score': 11.16}, {'connected_gene': 'LOC100129577', 'score': 0.2}, {'connected_gene': 'NHSL1', 'score': 0.14}, {'connected_gene': 'ENSG00000274594', 'score': 0.13}]