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
ENST00000369022	[[108025307, 108026529], [108029069, 108029215], [108041906, 108042197], [108066152, 108066347], [108067892, 108068093], [108070887, 108071017], [108145329, 108145521]]	[[108026403, 108026529], [108029069, 108029215], [108041906, 108042197], [108066152, 108066347], [108067892, 108068093], [108070887, 108070999]]
ENST00000369020	[[108026403, 108026529], [108029069, 108029215], [108041906, 108042197], [108066152, 108066347], [108067892, 108068093], [108070887, 108071017], [108093375, 108093590], [108145329, 108145516]]	[[108026403, 108026529], [108029069, 108029215], [108041906, 108042197], [108066152, 108066347], [108067892, 108068093], [108070887, 108071017], [108093375, 108093531]]
ENST00000473515	[[108040158, 108042197], [108066152, 108068093], [108070887, 108071017], [108145329, 108145516]]	None
ENST00000463507	[[108041874, 108042197], [108066152, 108066347], [108067892, 108068093], [108070887, 108071017], [108076774, 108076868], [108145329, 108145498]]	None
ENST00000426221	[[108061268, 108061360], [108066152, 108066347], [108067892, 108068093], [108070887, 108071017], [108145329, 108145490]]	[[108061352, 108061360], [108066152, 108066347], [108067892, 108068093], [108070887, 108070999]]
ENST00000369025	[[108025854, 108026529], [108029069, 108029215], [108041906, 108042197], [108053177, 108053599]]	[[108026403, 108026529], [108029069, 108029215], [108041906, 108042153]]
ENST00000476798	[[108039648, 108042197], [108053177, 108053307]]	None
ENST00000459992	[[108040933, 108042197], [108066152, 108066347], [108067892, 108068093], [108070887, 108071017], [108076774, 108076868], [108093375, 108093455]]	None
ENST00000369021	[[108041440, 108042197], [108066152, 108066347], [108067892, 108068093], [108070887, 108071017], [108076774, 108076843]]	[[108041874, 108042197], [108066152, 108066347], [108067892, 108068093], [108070887, 108071017], [108076774, 108076843]]
ENST00000479803	[[108041912, 108042197], [108065145, 108065258]]	None
ENST00000440927	[[108066152, 108066347], [108067892, 108068093], [108070887, 108071017], [108076774, 108076868], [108093375, 108093455]]	[[108066152, 108066347], [108067892, 108068093], [108070887, 108071017], [108076774, 108076843]]
NM_198081	[[108023360, 108026529], [108029069, 108029215], [108041906, 108042197], [108066152, 108066347], [108067892, 108068093], [108070887, 108071017], [108093375, 108093590], [108145329, 108145521]]	[[108026403, 108026529], [108029069, 108029215], [108041906, 108042197], [108066152, 108066347], [108067892, 108068093], [108070887, 108071017], [108093375, 108093531]]
NM_001286408	[[108023360, 108026529], [108029069, 108029215], [108041906, 108042197], [108066152, 108066347], [108067892, 108068093], [108070887, 108071017], [108145329, 108145521]]	[[108026403, 108026529], [108029069, 108029215], [108041906, 108042197], [108066152, 108066347], [108067892, 108068093], [108070887, 108070999]]
NM_001286409	[[108023360, 108026529], [108029069, 108029215], [108041906, 108042197], [108053177, 108053600]]	[[108026403, 108026529], [108029069, 108029215], [108041906, 108042153]]

Promoter

Chrom	Start	End	Description
chr6	108053352	108053354	CAGE_peak_3_at_SCML4_5end
chr6	108145461	108145470	CAGE_peak_8_at_SCML4_5end
chr6	108145499	108145532	CAGE_peak_1_at_SCML4_5end
chr6	108145536	108145550	CAGE_peak_4_at_SCML4_5end
chr6	108145556	108145565	CAGE_peak_6_at_SCML4_5end
chr6	108145786	108145811	CAGE_peak_2_at_SCML4_5end
chr6	108145828	108145839	CAGE_peak_7_at_SCML4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I107812	107812445	107812794	0.33	[{'connected_gene': 'SCML4', 'score': 12.47}, {'connected_gene': 'PDSS2', 'score': 1.87}, {'connected_gene': 'ENSG00000280135', 'score': 0.14}]
chr6	GH06I107830	107830365	107831335	0.2	[{'connected_gene': 'SCML4', 'score': 9.79}, {'connected_gene': 'SEC63', 'score': 9.44}, {'connected_gene': 'ENSG00000280135', 'score': 0.12}]
chr6	GH06I107804	107804866	107807244	0.38	[{'connected_gene': 'SCML4', 'score': 25.2}, {'connected_gene': 'SEC63', 'score': 9.8}, {'connected_gene': 'ENSG00000280135', 'score': 0.14}]
chr6	GH06I107847	107847801	107849000	1.41	[{'connected_gene': 'SCML4', 'score': 556.87}, {'connected_gene': 'SEC63', 'score': 16.43}, {'connected_gene': 'ENSG00000280135', 'score': 0.11}]
chr6	GH06I107819	107819760	107825633	2.14	[{'connected_gene': 'SCML4', 'score': 595.93}, {'connected_gene': 'SEC63', 'score': 10.39}, {'connected_gene': 'ENSG00000280135', 'score': 0.13}]
chr6	GH06I107689	107689213	107693130	0.78	[{'connected_gene': 'SCML4', 'score': 4.69}, {'connected_gene': 'ENSG00000280135', 'score': 0.44}, {'connected_gene': 'PIR51849', 'score': 0.29}]
chr6	GH06I107722	107722060	107725241	0.31	[{'connected_gene': 'SCML4', 'score': 7.34}, {'connected_gene': 'ENSG00000280135', 'score': 0.34}]
chr6	GH06I107781	107781589	107782813	0.31	[{'connected_gene': 'SCML4', 'score': 8.61}, {'connected_gene': 'ENSG00000280135', 'score': 0.18}]
chr6	GH06I107730	107730104	107733042	1.6	[{'connected_gene': 'SCML4', 'score': 557.78}, {'connected_gene': 'ENSG00000280135', 'score': 0.29}]
chr6	GH06I107813	107813369	107814083	0.2	[{'connected_gene': 'SCML4', 'score': 12.51}, {'connected_gene': 'ENSG00000280135', 'score': 0.14}]
chr6	GH06I107710	107709856	107711321	0.2	[{'connected_gene': 'SCML4', 'score': 4.86}, {'connected_gene': 'ENSG00000280135', 'score': 0.39}]
chr6	GH06I107815	107815993	107817527	0.95	[{'connected_gene': 'SCML4', 'score': 11.38}, {'connected_gene': 'ENSG00000280135', 'score': 0.13}]
chr6	GH06I107814	107812017	107812166	0.54	[{'connected_gene': 'SCML4', 'score': 0.28}, {'connected_gene': 'ENSG00000280135', 'score': 0.14}]
chr6	GH06I107784	107784202	107788518	0.97	[{'connected_gene': 'SCML4', 'score': 18.08}, {'connected_gene': 'ENSG00000280135', 'score': 0.17}]
chr6	GH06I107704	107704517	107705000	1.04	[{'connected_gene': 'SCML4', 'score': 17.82}, {'connected_gene': 'ENSG00000280135', 'score': 0.77}]
chr6	GH06I107709	107709027	107709760	0.4	[{'connected_gene': 'SCML4', 'score': 4.89}, {'connected_gene': 'ENSG00000280135', 'score': 0.44}]
chr6	GH06I107790	107790902	107797052	0.38	[{'connected_gene': 'SCML4', 'score': 23.11}, {'connected_gene': 'ENSG00000280135', 'score': 0.16}]
chr6	GH06I107711	107711947	107714541	1.27	[{'connected_gene': 'SCML4', 'score': 12.0}, {'connected_gene': 'ENSG00000280135', 'score': 0.39}]
chr6	GH06I107717	107717776	107719244	0.2	[{'connected_gene': 'SCML4', 'score': 5.15}, {'connected_gene': 'ENSG00000280135', 'score': 0.37}]
chr6	GH06I107954	107954426	107959760	2.45	[{'connected_gene': 'SEC63', 'score': 550.77}, {'connected_gene': 'ENSG00000272476', 'score': 550.77}, {'connected_gene': 'SCML4', 'score': 5.91}, {'connected_gene': 'RPL23AP50', 'score': 0.31}]
chr6	GH06I107964	107964117	107966856	1.19	[{'connected_gene': 'SEC63', 'score': 11.25}, {'connected_gene': 'ENSG00000272476', 'score': 7.3}, {'connected_gene': 'SCML4', 'score': 5.22}, {'connected_gene': 'ENSG00000224987', 'score': 0.34}]
chr6	GH06I107696	107696908	107700541	0.86	[{'connected_gene': 'ENSG00000280135', 'score': 550.77}, {'connected_gene': 'SCML4', 'score': 6.93}, {'connected_gene': 'OSTM1', 'score': 4.21}, {'connected_gene': 'PIR51849', 'score': 0.28}]
chr6	GH06I107740	107740103	107741994	0.6	[{'connected_gene': 'ENSG00000280135', 'score': 0.26}, {'connected_gene': 'SCML4', 'score': 0.14}]
chr6	GH06I107715	107715471	107717536	1.21	[{'connected_gene': 'ENSG00000280135', 'score': 0.37}, {'connected_gene': 'SCML4', 'score': 0.12}]
chr6	GH06I107753	107753447	107754996	0.43	[{'connected_gene': 'ENSG00000280135', 'score': 0.23}, {'connected_gene': 'SCML4', 'score': 0.16}]
chr6	GH06I107734	107734590	107739392	0.71	[{'connected_gene': 'ENSG00000280135', 'score': 0.28}, {'connected_gene': 'SCML4', 'score': 0.14}]
chr6	GH06I107726	107726637	107726786	0.84	[{'connected_gene': 'ENSG00000280135', 'score': 0.31}, {'connected_gene': 'SCML4', 'score': 0.13}]
chr6	GH06I107755	107755299	107759030	0.46	[{'connected_gene': 'ENSG00000280135', 'score': 0.22}, {'connected_gene': 'SCML4', 'score': 0.16}]
chr6	GH06I107867	107867137	107867226	0.66	[{'connected_gene': 'GC06P107867', 'score': 550.77}, {'connected_gene': 'SEC63', 'score': 10.38}, {'connected_gene': 'SCML4', 'score': 0.37}]