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
ENST00000333274	[[106712589, 106717077], [106722935, 106723016], [106723406, 106723472], [106762917, 106763210], [107006189, 107006596]]	[[106716955, 106717077], [106722935, 106723016], [106723406, 106723472], [106762917, 106763210], [107006189, 107006314]]
ENST00000509503	[[106716938, 106717077], [106723406, 106723472], [106762917, 106763210], [107006189, 107006328]]	[[106716955, 106717077], [106723406, 106723472], [106762917, 106763210], [107006189, 107006314]]
ENST00000504941	[[106762676, 106763210], [107006189, 107006586]]	None
ENST00000505499	[[106762917, 106763210], [106841836, 106841892]]	None
ENST00000510359	[[106716684, 106717077], [106722935, 106723016], [106723406, 106723472], [106724188, 106724254]]	None
NM_001962	[[106712589, 106717077], [106722935, 106723016], [106723406, 106723472], [106762917, 106763210], [107006189, 107006596]]	[[106716955, 106717077], [106722935, 106723016], [106723406, 106723472], [106762917, 106763210], [107006189, 107006314]]

Promoter

Chrom	Start	End	Description
chr5	106715245	106715249	CAGE_peak_1_at_EFNA5_5end
chr5	107006561	107006592	CAGE_peak_3_at_EFNA5_5end
chr5	107006599	107006651	CAGE_peak_2_at_EFNA5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I107395	107395495	107396660	0.65	[{'connected_gene': 'EFNA5', 'score': 18.79}, {'connected_gene': 'GC05P107533', 'score': 0.12}, {'connected_gene': 'GC05P107199', 'score': 0.08}]
chr5	GH05I107485	107485460	107487682	1.37	[{'connected_gene': 'EFNA5', 'score': 4.76}, {'connected_gene': 'GC05P107533', 'score': 0.25}, {'connected_gene': 'GC05P107199', 'score': 0.06}]
chr5	GH05I107428	107428188	107428779	0.83	[{'connected_gene': 'EFNA5', 'score': 9.34}, {'connected_gene': 'GC05P107533', 'score': 0.15}, {'connected_gene': 'GC05P107199', 'score': 0.07}]
chr5	GH05I107576	107576498	107578515	0.82	[{'connected_gene': 'EFNA5', 'score': 10.7}, {'connected_gene': 'GC05P107582', 'score': 0.44}, {'connected_gene': 'GC05P107533', 'score': 0.26}]
chr5	GH05I107542	107541967	107543689	1.43	[{'connected_gene': 'EFNA5', 'score': 4.87}, {'connected_gene': 'GC05P107533', 'score': 0.44}, {'connected_gene': 'GC05P107582', 'score': 0.28}]
chr5	GH05I107302	107302071	107302314	0.64	[{'connected_gene': 'EFNA5', 'score': 10.4}, {'connected_gene': 'GC05P107199', 'score': 0.15}, {'connected_gene': 'GC05P107533', 'score': 0.07}]
chr5	GH05I107568	107568401	107568600	0.59	[{'connected_gene': 'EFNA5', 'score': 10.71}, {'connected_gene': 'GC05P107582', 'score': 0.39}, {'connected_gene': 'GC05P107533', 'score': 0.28}]
chr5	GH05I107387	107387227	107390265	1.6	[{'connected_gene': 'EFNA5', 'score': 7.4}, {'connected_gene': 'GC05P107533', 'score': 0.11}, {'connected_gene': 'GC05P107199', 'score': 0.09}]
chr5	GH05I107416	107416644	107418022	0.38	[{'connected_gene': 'EFNA5', 'score': 9.06}, {'connected_gene': 'GC05P107533', 'score': 0.13}, {'connected_gene': 'GC05P107199', 'score': 0.08}]
chr5	GH05I107301	107301108	107301278	0.24	[{'connected_gene': 'EFNA5', 'score': 10.4}, {'connected_gene': 'GC05P107199', 'score': 0.15}, {'connected_gene': 'GC05P107533', 'score': 0.07}]
chr5	GH05I107407	107407485	107411602	0.31	[{'connected_gene': 'EFNA5', 'score': 7.38}, {'connected_gene': 'GC05P107533', 'score': 0.13}, {'connected_gene': 'GC05P107199', 'score': 0.08}]
chr5	GH05I107569	107569902	107573378	1.45	[{'connected_gene': 'EFNA5', 'score': 11.33}, {'connected_gene': 'GC05P107582', 'score': 0.39}, {'connected_gene': 'GC05P107533', 'score': 0.28}]
chr5	GH05I107573	107573815	107575311	0.4	[{'connected_gene': 'EFNA5', 'score': 10.89}, {'connected_gene': 'GC05P107582', 'score': 0.44}, {'connected_gene': 'GC05P107533', 'score': 0.26}]
chr5	GH05I107217	107217483	107218530	0.74	[{'connected_gene': 'EFNA5', 'score': 5.43}, {'connected_gene': 'GC05P107199', 'score': 0.37}, {'connected_gene': 'GC05P107533', 'score': 0.06}]
chr5	GH05I107429	107429375	107430941	0.43	[{'connected_gene': 'EFNA5', 'score': 5.03}, {'connected_gene': 'GC05P107533', 'score': 0.15}, {'connected_gene': 'GC05P107199', 'score': 0.07}]
chr5	GH05I107423	107423281	107427400	1.07	[{'connected_gene': 'EFNA5', 'score': 8.9}, {'connected_gene': 'GC05P107533', 'score': 0.14}, {'connected_gene': 'GC05P107199', 'score': 0.07}]
chr5	GH05I107668	107668177	107674001	2.22	[{'connected_gene': 'GC05P107669', 'score': 550.77}, {'connected_gene': 'EFNA5', 'score': 550.77}, {'connected_gene': 'FBXL17', 'score': 4.34}, {'connected_gene': 'GC05P107680', 'score': 0.44}]
chr5	GH05I107404	107404508	107405982	0.38	[{'connected_gene': 'GC05P107533', 'score': 0.13}, {'connected_gene': 'GC05P107199', 'score': 0.08}, {'connected_gene': 'EFNA5', 'score': 0.06}]
chr5	GH05I107473	107473795	107479262	1.69	[{'connected_gene': 'GC05P107533', 'score': 0.22}, {'connected_gene': 'EFNA5', 'score': 0.08}, {'connected_gene': 'GC05P107199', 'score': 0.06}]
chr5	GH05I107499	107499320	107499469	0.38	[{'connected_gene': 'GC05P107533', 'score': 0.29}, {'connected_gene': 'EFNA5', 'score': 0.09}, {'connected_gene': 'GC05P107199', 'score': 0.06}]
chr5	GH05I107464	107464002	107471429	1.62	[{'connected_gene': 'GC05P107533', 'score': 0.2}, {'connected_gene': 'EFNA5', 'score': 0.08}, {'connected_gene': 'GC05P107199', 'score': 0.06}]
chr5	GH05I107615	107615324	107616249	0.72	[{'connected_gene': 'GC05P107582', 'score': 0.29}, {'connected_gene': 'GC05P107669', 'score': 0.23}, {'connected_gene': 'EFNA5', 'score': 0.22}]
chr5	GH05I107566	107566201	107566400	0.31	[{'connected_gene': 'GC05P107582', 'score': 0.37}, {'connected_gene': 'GC05P107533', 'score': 0.29}, {'connected_gene': 'EFNA5', 'score': 0.15}]
chr5	GH05I107589	107589580	107589709	0.31	[{'connected_gene': 'GC05P107582', 'score': 0.44}, {'connected_gene': 'GC05P107669', 'score': 0.18}, {'connected_gene': 'EFNA5', 'score': 0.18}]
chr5	GH05I107511	107511765	107513289	0.31	[{'connected_gene': 'GC05P107533', 'score': 0.34}, {'connected_gene': 'EFNA5', 'score': 0.1}, {'connected_gene': 'GC05P107199', 'score': 0.06}]
chr5	GH05I107540	107539000	107539149	0.38	[{'connected_gene': 'GC05P107533', 'score': 0.44}, {'connected_gene': 'GC05P107582', 'score': 0.26}, {'connected_gene': 'EFNA5', 'score': 0.12}]
chr5	GH05I107401	107401855	107402073	0.4	[{'connected_gene': 'GC05P107533', 'score': 0.12}, {'connected_gene': 'GC05P107199', 'score': 0.08}, {'connected_gene': 'EFNA5', 'score': 0.06}]
chr5	GH05I107384	107384776	107384795	0.22	[{'connected_gene': 'GC05P107533', 'score': 0.11}, {'connected_gene': 'GC05P107199', 'score': 0.09}, {'connected_gene': 'EFNA5', 'score': 0.06}]
chr5	GH05I107564	107564826	107565327	0.54	[{'connected_gene': 'GC05P107582', 'score': 0.37}, {'connected_gene': 'GC05P107533', 'score': 0.29}, {'connected_gene': 'EFNA5', 'score': 0.14}]
chr5	GH05I107431	107431583	107432790	0.78	[{'connected_gene': 'GC05P107533', 'score': 0.15}, {'connected_gene': 'GC05P107199', 'score': 0.07}, {'connected_gene': 'EFNA5', 'score': 0.07}]
chr5	GH05I107539	107539200	107539401	0.31	[{'connected_gene': 'GC05P107533', 'score': 0.44}, {'connected_gene': 'GC05P107582', 'score': 0.26}, {'connected_gene': 'EFNA5', 'score': 0.12}]
chr5	GH05I107505	107505867	107506727	0.66	[{'connected_gene': 'GC05P107533', 'score': 0.31}, {'connected_gene': 'EFNA5', 'score': 0.1}, {'connected_gene': 'GC05P107199', 'score': 0.06}]
chr5	GH05I107538	107538479	107538609	0.2	[{'connected_gene': 'GC05P107533', 'score': 0.44}, {'connected_gene': 'GC05P107582', 'score': 0.26}, {'connected_gene': 'EFNA5', 'score': 0.12}]
chr5	GH05I107378	107378180	107379315	0.66	[{'connected_gene': 'GC05P107533', 'score': 0.1}, {'connected_gene': 'GC05P107199', 'score': 0.1}, {'connected_gene': 'EFNA5', 'score': 0.06}]
chr5	GH05I107415	107415498	107416613	0.38	[{'connected_gene': 'GC05P107533', 'score': 0.13}, {'connected_gene': 'GC05P107199', 'score': 0.08}, {'connected_gene': 'EFNA5', 'score': 0.07}]
chr5	GH05I107556	107556824	107558094	1.05	[{'connected_gene': 'GC05P107533', 'score': 0.34}, {'connected_gene': 'GC05P107582', 'score': 0.31}, {'connected_gene': 'EFNA5', 'score': 0.14}]
chr5	GH05I107380	107380455	107382507	1.08	[{'connected_gene': 'GC05P107533', 'score': 0.1}, {'connected_gene': 'GC05P107199', 'score': 0.09}, {'connected_gene': 'EFNA5', 'score': 0.06}]
chr5	GH05I107402	107402877	107404393	0.79	[{'connected_gene': 'GC05P107533', 'score': 0.13}, {'connected_gene': 'GC05P107199', 'score': 0.08}, {'connected_gene': 'EFNA5', 'score': 0.06}]
chr5	GH05I107541	107541660	107541809	0.2	[{'connected_gene': 'GC05P107533', 'score': 0.44}, {'connected_gene': 'GC05P107582', 'score': 0.26}, {'connected_gene': 'EFNA5', 'score': 0.13}]
chr5	GH05I107501	107501664	107503163	1.17	[{'connected_gene': 'GC05P107533', 'score': 0.29}, {'connected_gene': 'EFNA5', 'score': 0.1}, {'connected_gene': 'GC05P107199', 'score': 0.06}]
chr5	GH05I107472	107472371	107473368	0.64	[{'connected_gene': 'GC05P107533', 'score': 0.21}, {'connected_gene': 'EFNA5', 'score': 0.08}, {'connected_gene': 'GC05P107199', 'score': 0.06}]
chr5	GH05I107567	107567801	107568200	0.46	[{'connected_gene': 'GC05P107582', 'score': 0.39}, {'connected_gene': 'GC05P107533', 'score': 0.29}, {'connected_gene': 'EFNA5', 'score': 0.15}]
chr5	GH05I107377	107377030	107377277	0.83	[{'connected_gene': 'GC05P107533', 'score': 0.1}, {'connected_gene': 'GC05P107199', 'score': 0.1}, {'connected_gene': 'EFNA5', 'score': 0.06}]
chr5	GH05I107519	107519786	107520835	1.02	[{'connected_gene': 'GC05P107533', 'score': 0.39}, {'connected_gene': 'EFNA5', 'score': 0.1}, {'connected_gene': 'GC05P107199', 'score': 0.05}]
chr5	GH05I107454	107454825	107457286	0.84	[{'connected_gene': 'GC05P107533', 'score': 0.18}, {'connected_gene': 'EFNA5', 'score': 0.08}, {'connected_gene': 'GC05P107199', 'score': 0.07}]