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
ENST00000458385	[[186080818, 186084079], [186085182, 186085333], [186096939, 186097205], [186111296, 186112366], [186125051, 186125155]]	[[186083951, 186084079], [186085182, 186085333], [186096939, 186097205], [186111296, 186112350]]
ENST00000514798	[[186090179, 186091494], [186096939, 186097205], [186111296, 186112366], [186124938, 186125182]]	[[186091452, 186091494], [186096939, 186097205], [186111296, 186112350]]
ENST00000296775	[[186091452, 186091494], [186096939, 186097205], [186111296, 186112366], [186125051, 186125182]]	[[186091452, 186091494], [186096939, 186097205], [186111296, 186112350]]
ENST00000503223	[[186111921, 186112366], [186128888, 186128945], [186130478, 186130658]]	[[186111921, 186112350]]
ENST00000502992	[[186096953, 186097205], [186103331, 186103673]]	None
NM_020827	[[186080815, 186084079], [186085182, 186085333], [186096939, 186097205], [186111296, 186112366], [186125051, 186125182]]	[[186083951, 186084079], [186085182, 186085333], [186096939, 186097205], [186111296, 186112350]]
NM_001292033	[[186090179, 186091494], [186096939, 186097205], [186111296, 186112366], [186124938, 186125182]]	[[186091452, 186091494], [186096939, 186097205], [186111296, 186112350]]

Promoter

Chrom	Start	End	Description
chr4	186111531	186111556	CAGE_peak_8_at_KIAA1430_5end
chr4	186111558	186111570	CAGE_peak_10_at_KIAA1430_5end
chr4	186124977	186124994	CAGE_peak_13_at_KIAA1430_5end
chr4	186125009	186125016	CAGE_peak_18_at_KIAA1430_5end
chr4	186125077	186125175	CAGE_peak_1_at_KIAA1430_5end
chr4	186125292	186125305	CAGE_peak_2_at_KIAA1430_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I185255	185255419	185257000	0.76	[{'connected_gene': 'SNX25', 'score': 18.32}, {'connected_gene': 'CFAP97', 'score': 18.05}, {'connected_gene': 'UFSP2', 'score': 5.61}, {'connected_gene': 'LOC105377591', 'score': 0.14}]
chr4	GH04I185265	185265425	185266791	0.66	[{'connected_gene': 'SNX25', 'score': 17.38}, {'connected_gene': 'CFAP97', 'score': 17.08}, {'connected_gene': 'LOC105377591', 'score': 0.15}]
chr4	GH04I185182	185182287	185182436	0.2	[{'connected_gene': 'SNX25', 'score': 11.06}, {'connected_gene': 'CFAP97', 'score': 11.03}, {'connected_gene': 'GC04P185149', 'score': 0.29}]
chr4	GH04I185196	185196587	185196736	0.52	[{'connected_gene': 'SNX25', 'score': 0.44}, {'connected_gene': 'CFAP97', 'score': 0.39}, {'connected_gene': 'GC04P185149', 'score': 0.25}]
chr4	GH04I184731	184731709	184735026	2.13	[{'connected_gene': 'CENPU', 'score': 602.56}, {'connected_gene': 'PRIMPOL', 'score': 34.81}, {'connected_gene': 'UFSP2', 'score': 12.21}, {'connected_gene': 'SNX25', 'score': 10.37}, {'connected_gene': 'CFAP97', 'score': 10.18}, {'connected_gene': 'GC04P184696', 'score': 0.28}]
chr4	GH04I184342	184342058	184350884	1.74	[{'connected_gene': 'LINC02363', 'score': 21.98}, {'connected_gene': 'IRF2', 'score': 15.26}, {'connected_gene': 'ENSG00000251878', 'score': 11.29}, {'connected_gene': 'CASP3', 'score': 10.76}, {'connected_gene': 'PRIMPOL', 'score': 10.76}, {'connected_gene': 'CFAP97', 'score': 4.77}, {'connected_gene': 'ACSL1', 'score': 3.39}, {'connected_gene': 'GC04P184303', 'score': 0.26}]
chr4	GH04I186028	186028554	186032903	0.83	[{'connected_gene': 'TLR3', 'score': 9.99}, {'connected_gene': 'CFAP97', 'score': 4.68}, {'connected_gene': 'RNU4-64P', 'score': 0.77}]
chr4	GH04I185769	185769641	185770414	0.31	[{'connected_gene': 'CFAP97', 'score': 10.43}, {'connected_gene': 'SORBS2', 'score': 4.97}, {'connected_gene': 'GC04M185710', 'score': 0.21}, {'connected_gene': 'ENSG00000207497', 'score': 0.21}, {'connected_gene': 'LOC101928929', 'score': 0.12}]
chr4	GH04I185201	185201330	185205556	2.06	[{'connected_gene': 'CFAP97', 'score': 568.36}, {'connected_gene': 'SNX25', 'score': 550.77}, {'connected_gene': 'PRIMPOL', 'score': 24.32}, {'connected_gene': 'GC04P185149', 'score': 0.22}]
chr4	GH04I185232	185232238	185232769	0.54	[{'connected_gene': 'CFAP97', 'score': 13.28}, {'connected_gene': 'SNX25', 'score': 0.31}, {'connected_gene': 'LOC105377591', 'score': 0.12}]
chr4	GH04I185257	185257993	185259436	0.8	[{'connected_gene': 'CFAP97', 'score': 0.25}, {'connected_gene': 'SNX25', 'score': 0.23}, {'connected_gene': 'LOC105377591', 'score': 0.14}]
chr4	GH04I185216	185216801	185217200	0.54	[{'connected_gene': 'CFAP97', 'score': 7.19}, {'connected_gene': 'SNX25', 'score': 0.39}, {'connected_gene': 'LOC105377591', 'score': 0.1}]
chr4	GH04I185235	185235328	185236476	1.05	[{'connected_gene': 'CFAP97', 'score': 24.77}, {'connected_gene': 'SNX25', 'score': 11.95}, {'connected_gene': 'LOC105377591', 'score': 0.12}]
chr4	GH04I185238	185238100	185239105	0.46	[{'connected_gene': 'CFAP97', 'score': 24.91}, {'connected_gene': 'SNX25', 'score': 11.95}, {'connected_gene': 'LOC105377591', 'score': 0.12}]
chr4	GH04I185219	185219207	185220421	0.49	[{'connected_gene': 'CFAP97', 'score': 7.72}, {'connected_gene': 'SNX25', 'score': 0.37}, {'connected_gene': 'LOC105377591', 'score': 0.1}]
chr4	GH04I185208	185208832	185211970	1.98	[{'connected_gene': 'CFAP97', 'score': 563.15}, {'connected_gene': 'SNX25', 'score': 550.44}, {'connected_gene': 'LOC105377591', 'score': 0.1}]
chr4	GH04I185212	185212942	185214835	0.75	[{'connected_gene': 'CFAP97', 'score': 14.07}, {'connected_gene': 'SNX25', 'score': 0.44}, {'connected_gene': 'LOC105377591', 'score': 0.1}]
chr4	GH04I185183	185183727	185183896	0.67	[{'connected_gene': 'CFAP97', 'score': 5.43}, {'connected_gene': 'SNX25', 'score': 0.34}, {'connected_gene': 'GC04P185149', 'score': 0.28}]
chr4	GH04I185303	185303803	185309041	1.21	[{'connected_gene': 'CFAP97', 'score': 18.93}, {'connected_gene': 'LRP2BP', 'score': 17.06}, {'connected_gene': 'SNX25', 'score': 11.01}, {'connected_gene': 'LOC105377591', 'score': 0.21}]
chr4	GH04I185136	185136833	185138974	0.4	[{'connected_gene': 'CFAP97', 'score': 11.31}, {'connected_gene': 'HELT', 'score': 11.1}, {'connected_gene': 'SLC25A4', 'score': 0.44}, {'connected_gene': 'LOC105377588', 'score': 0.23}]
chr4	GH04I185139	185139649	185140139	0.2	[{'connected_gene': 'CFAP97', 'score': 11.11}, {'connected_gene': 'SLC25A4', 'score': 0.77}, {'connected_gene': 'LOC105377588', 'score': 0.23}]
chr4	GH04I185912	185912620	185915986	1.13	[{'connected_gene': 'CFAP97', 'score': 11.16}, {'connected_gene': 'LOC101928929', 'score': 7.26}, {'connected_gene': 'ORAOV1P1', 'score': 6.02}, {'connected_gene': 'SORBS2', 'score': 0.26}]
chr4	GH04I185360	185360746	185364401	0.52	[{'connected_gene': 'LRP2BP', 'score': 18.2}, {'connected_gene': 'SNX25', 'score': 6.37}, {'connected_gene': 'UFSP2', 'score': 4.62}, {'connected_gene': 'LOC105377591', 'score': 0.44}, {'connected_gene': 'CFAP97', 'score': 0.1}]
chr4	GH04I185318	185318211	185319476	1.17	[{'connected_gene': 'LRP2BP', 'score': 17.25}, {'connected_gene': 'CFAP97', 'score': 6.84}, {'connected_gene': 'LOC105377591', 'score': 0.23}, {'connected_gene': 'SNX25', 'score': 0.14}]
chr4	GH04I185349	185349884	185353913	0.52	[{'connected_gene': 'LRP2BP', 'score': 17.3}, {'connected_gene': 'UFSP2', 'score': 11.43}, {'connected_gene': 'LOC105377591', 'score': 0.37}, {'connected_gene': 'SNX25', 'score': 0.11}, {'connected_gene': 'CFAP97', 'score': 0.11}]
chr4	GH04I185343	185343654	185346021	1.08	[{'connected_gene': 'LRP2BP', 'score': 18.2}, {'connected_gene': 'UFSP2', 'score': 6.15}, {'connected_gene': 'LOC105377591', 'score': 0.31}, {'connected_gene': 'CFAP97', 'score': 0.12}, {'connected_gene': 'SNX25', 'score': 0.11}]
chr4	GH04I185357	185357343	185360463	1.04	[{'connected_gene': 'LRP2BP', 'score': 29.19}, {'connected_gene': 'ANKRD37', 'score': 11.29}, {'connected_gene': 'UFSP2', 'score': 9.38}, {'connected_gene': 'LOC105377591', 'score': 0.39}, {'connected_gene': 'CFAP97', 'score': 0.11}, {'connected_gene': 'SNX25', 'score': 0.1}]
chr4	GH04I185394	185394282	185398071	2.08	[{'connected_gene': 'LRP2BP', 'score': 576.23}, {'connected_gene': 'GC04M185389', 'score': 550.77}, {'connected_gene': 'ANKRD37', 'score': 550.77}, {'connected_gene': 'UFSP2', 'score': 59.52}, {'connected_gene': 'LOC105377591', 'score': 11.41}, {'connected_gene': 'C4orf47', 'score': 10.45}, {'connected_gene': 'SNX25', 'score': 10.38}, {'connected_gene': 'CFAP97', 'score': 6.27}]
chr4	GH04I185340	185340039	185342892	0.6	[{'connected_gene': 'LRP2BP', 'score': 10.97}, {'connected_gene': 'LOC105377591', 'score': 0.31}, {'connected_gene': 'SNX25', 'score': 0.12}, {'connected_gene': 'CFAP97', 'score': 0.12}]
chr4	GH04I185142	185142127	185144223	2.23	[{'connected_gene': 'SLC25A4', 'score': 557.23}, {'connected_gene': 'PRIMPOL', 'score': 12.48}, {'connected_gene': 'CFAP97', 'score': 9.56}, {'connected_gene': 'LOC105377588', 'score': 0.22}]
chr4	GH04I185540	185540983	185541863	0.51	[{'connected_gene': 'PDLIM3', 'score': 5.85}, {'connected_gene': 'CFAP97', 'score': 4.8}, {'connected_gene': 'ENSG00000233110', 'score': 0.25}]
chr4	GH04I184353	184353779	184358399	1.69	[{'connected_gene': 'PRIMPOL', 'score': 19.96}, {'connected_gene': 'LINC02363', 'score': 18.35}, {'connected_gene': 'IRF2', 'score': 17.54}, {'connected_gene': 'SNX25', 'score': 11.07}, {'connected_gene': 'CDKN2AIP', 'score': 10.6}, {'connected_gene': 'ENSG00000251878', 'score': 10.55}, {'connected_gene': 'CFAP97', 'score': 10.43}, {'connected_gene': 'ACSL1', 'score': 10.38}, {'connected_gene': 'ENSG00000248206', 'score': 4.95}, {'connected_gene': 'LINC02362', 'score': 0.31}]
chr4	GH04I184598	184598906	184600476	0.67	[{'connected_gene': 'PRIMPOL', 'score': 21.92}, {'connected_gene': 'CFAP97', 'score': 14.19}, {'connected_gene': 'TRAPPC11', 'score': 13.47}, {'connected_gene': 'RNU6-1053P', 'score': 13.18}, {'connected_gene': 'CENPU', 'score': 5.12}, {'connected_gene': 'PIR42069', 'score': 0.39}, {'connected_gene': 'LINC02365', 'score': 0.31}, {'connected_gene': 'LOC100129245', 'score': 0.28}]
chr4	GH04I185222	185222296	185223504	0.46	[{'connected_gene': 'PRIMPOL', 'score': 14.28}, {'connected_gene': 'CFAP97', 'score': 7.38}, {'connected_gene': 'C4orf47', 'score': 5.32}, {'connected_gene': 'SNX25', 'score': 0.37}, {'connected_gene': 'LOC105377591', 'score': 0.11}]
chr4	GH04I184338	184338990	184340296	1.56	[{'connected_gene': 'PRIMPOL', 'score': 21.73}, {'connected_gene': 'CFAP97', 'score': 14.19}, {'connected_gene': 'IRF2', 'score': 13.88}, {'connected_gene': 'TRAPPC11', 'score': 13.47}, {'connected_gene': 'RNU6-1053P', 'score': 13.18}, {'connected_gene': 'CDKN2AIP', 'score': 12.16}, {'connected_gene': 'MYL12BP2', 'score': 7.85}, {'connected_gene': 'ACSL1', 'score': 1.53}, {'connected_gene': 'LINC02363', 'score': 0.39}, {'connected_gene': 'GC04P184303', 'score': 0.28}]
chr4	GH04I185332	185332572	185334004	0.98	[{'connected_gene': 'LOC105377591', 'score': 0.28}, {'connected_gene': 'SNX25', 'score': 0.13}, {'connected_gene': 'CFAP97', 'score': 0.13}]
chr4	GH04I185329	185329457	185330193	0.2	[{'connected_gene': 'LOC105377591', 'score': 0.26}, {'connected_gene': 'SNX25', 'score': 0.13}, {'connected_gene': 'CFAP97', 'score': 0.13}]
chr4	GH04I185309	185309604	185310369	0.94	[{'connected_gene': 'LOC105377591', 'score': 0.21}, {'connected_gene': 'CFAP97', 'score': 0.15}, {'connected_gene': 'SNX25', 'score': 0.14}]
chr4	GH04I184849	184849945	184854000	0.97	[{'connected_gene': 'MIR3945', 'score': 550.77}, {'connected_gene': 'PRIMPOL', 'score': 13.32}, {'connected_gene': 'UFSP2', 'score': 12.22}, {'connected_gene': 'CFAP97', 'score': 10.19}, {'connected_gene': 'MIR3945HG', 'score': 0.77}]
chr4	GH04I185165	185165727	185165876	0.74	[{'connected_gene': 'GC04P185149', 'score': 0.37}, {'connected_gene': 'SNX25', 'score': 0.28}, {'connected_gene': 'CFAP97', 'score': 0.26}]