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
ENST00000317534	[[43906156, 43906581], [43908561, 43908673], [43908906, 43908975], [43909055, 43909156]]	[[43906297, 43906581], [43908561, 43908673], [43908906, 43908975], [43909055, 43909094]]
ENST00000467084	[[43906403, 43906581], [43908561, 43908673], [43908906, 43908975], [43909122, 43909492]]	None
ENST00000418740	[[43906160, 43906581], [43908561, 43908673], [43908906, 43909116]]	[[43909004, 43909094]]
ENST00000483330	[[43906376, 43906581], [43908561, 43908748]]	None
ENST00000414932	[[43907146, 43908673], [43908906, 43909106]]	[[43909004, 43909094]]
NM_032014	[[43906156, 43906581], [43908561, 43908673], [43908906, 43908975], [43909055, 43909145]]	[[43906297, 43906581], [43908561, 43908673], [43908906, 43908975], [43909055, 43909094]]

Promoter

Chrom	Start	End	Description
chr7	43909090	43909125	CAGE_peak_1_at_MRPS24_5end
chr7	43909498	43909537	CAGE_peak_2_at_MRPS24_5end
chr7	43909556	43909565	CAGE_peak_9_at_MRPS24_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I043693	43693001	43695623	1.3	[{'connected_gene': 'STK17A', 'score': 27.04}, {'connected_gene': 'BLVRA', 'score': 15.83}, {'connected_gene': 'COA1', 'score': 11.97}, {'connected_gene': 'MRPS24', 'score': 10.57}, {'connected_gene': 'LINC00957', 'score': 6.06}, {'connected_gene': 'DBNL', 'score': 1.74}, {'connected_gene': 'GC07M043624', 'score': 0.2}]
chr7	GH07I043808	43808115	43809436	0.67	[{'connected_gene': 'STK17A', 'score': 13.79}, {'connected_gene': 'BLVRA', 'score': 11.8}, {'connected_gene': 'COA1', 'score': 11.76}, {'connected_gene': 'MRPS24', 'score': 10.8}, {'connected_gene': 'PIR43622', 'score': 0.44}, {'connected_gene': 'LOC102724946', 'score': 0.29}, {'connected_gene': 'ENSG00000229497', 'score': 0.26}]
chr7	GH07I043699	43699601	43700399	1.1	[{'connected_gene': 'STK17A', 'score': 26.78}, {'connected_gene': 'COA1', 'score': 12.01}, {'connected_gene': 'MRPS24', 'score': 10.58}, {'connected_gene': 'GCK', 'score': 5.31}, {'connected_gene': 'GC07M043624', 'score': 0.19}]
chr7	GH07I043688	43688212	43690424	0.46	[{'connected_gene': 'STK17A', 'score': 26.92}, {'connected_gene': 'COA1', 'score': 11.96}, {'connected_gene': 'MRPS24', 'score': 10.56}, {'connected_gene': 'GC07M043624', 'score': 0.21}]
chr7	GH07I043868	43868162	43871622	2.23	[{'connected_gene': 'MRPS24', 'score': 550.77}, {'connected_gene': 'POLM', 'score': 30.49}, {'connected_gene': 'URGCP', 'score': 19.4}, {'connected_gene': 'DDX56', 'score': 15.57}, {'connected_gene': 'ENSG00000239556', 'score': 13.52}, {'connected_gene': 'ENSG00000228434', 'score': 11.17}, {'connected_gene': 'TMED4', 'score': 10.74}, {'connected_gene': 'ENSG00000241057', 'score': 4.59}, {'connected_gene': 'LINC00957', 'score': 4.5}, {'connected_gene': 'RASA4CP', 'score': 4.32}, {'connected_gene': 'GC07P043860', 'score': 0.44}, {'connected_gene': 'GC07P043861', 'score': 0.44}, {'connected_gene': 'PIR56876', 'score': 0.44}, {'connected_gene': 'URGCP-MRPS24', 'score': 0.28}]
chr7	GH07I043833	43833869	43835692	1.04	[{'connected_gene': 'BLVRA', 'score': 21.81}, {'connected_gene': 'STK17A', 'score': 12.47}, {'connected_gene': 'COA1', 'score': 11.3}, {'connected_gene': 'MRPS24', 'score': 10.99}, {'connected_gene': 'LOC102724946', 'score': 0.77}, {'connected_gene': 'PIR43622', 'score': 0.37}]
chr7	GH07I043577	43577206	43578094	1.08	[{'connected_gene': 'BLVRA', 'score': 11.74}, {'connected_gene': 'COA1', 'score': 10.92}, {'connected_gene': 'MRPS24', 'score': 10.56}, {'connected_gene': 'STK17A', 'score': 8.41}, {'connected_gene': 'LUARIS', 'score': 0.22}]
chr7	GH07I043791	43791733	43792401	0.38	[{'connected_gene': 'BLVRA', 'score': 18.61}, {'connected_gene': 'COA1', 'score': 11.22}, {'connected_gene': 'MRPS24', 'score': 10.83}, {'connected_gene': 'ENSG00000229497', 'score': 0.34}, {'connected_gene': 'PIR43622', 'score': 0.31}, {'connected_gene': 'LOC102724946', 'score': 0.25}]
chr7	GH07I043792	43792522	43792671	0.2	[{'connected_gene': 'BLVRA', 'score': 11.33}, {'connected_gene': 'COA1', 'score': 11.28}, {'connected_gene': 'MRPS24', 'score': 10.83}, {'connected_gene': 'ENSG00000229497', 'score': 0.31}, {'connected_gene': 'PIR43622', 'score': 0.31}, {'connected_gene': 'LOC102724946', 'score': 0.25}]
chr7	GH07I043692	43692797	43692856	0.5	[{'connected_gene': 'COA1', 'score': 561.97}, {'connected_gene': 'STK17A', 'score': 12.54}, {'connected_gene': 'MRPS24', 'score': 10.57}, {'connected_gene': 'GC07M043624', 'score': 0.2}]
chr7	GH07I043871	43871744	43874621	1.38	[{'connected_gene': 'URGCP', 'score': 26.87}, {'connected_gene': 'ENSG00000239556', 'score': 20.33}, {'connected_gene': 'UBE2D4', 'score': 11.43}, {'connected_gene': 'COA1', 'score': 9.97}, {'connected_gene': 'RASA4CP', 'score': 6.3}, {'connected_gene': 'MRPS24', 'score': 0.77}, {'connected_gene': 'URGCP-MRPS24', 'score': 0.29}]
chr7	GH07I043878	43878531	43883261	0.96	[{'connected_gene': 'URGCP', 'score': 31.75}, {'connected_gene': 'UBE2D4', 'score': 11.45}, {'connected_gene': 'COA1', 'score': 9.96}, {'connected_gene': 'RASA4CP', 'score': 9.03}, {'connected_gene': 'POLM', 'score': 8.93}, {'connected_gene': 'ENSG00000241057', 'score': 4.99}, {'connected_gene': 'MRPS24', 'score': 0.39}, {'connected_gene': 'URGCP-MRPS24', 'score': 0.31}]
chr7	GH07I043876	43876014	43877378	0.51	[{'connected_gene': 'URGCP', 'score': 31.78}, {'connected_gene': 'POLM', 'score': 17.75}, {'connected_gene': 'ENSG00000239556', 'score': 14.46}, {'connected_gene': 'UBE2D4', 'score': 11.45}, {'connected_gene': 'COA1', 'score': 9.97}, {'connected_gene': 'RASA4CP', 'score': 8.99}, {'connected_gene': 'ENSG00000241057', 'score': 4.99}, {'connected_gene': 'DBNL', 'score': 4.85}, {'connected_gene': 'MRPS24', 'score': 0.44}, {'connected_gene': 'URGCP-MRPS24', 'score': 0.31}]
chr7	GH07I043903	43903784	43907341	2.17	[{'connected_gene': 'URGCP', 'score': 567.19}, {'connected_gene': 'URGCP-MRPS24', 'score': 550.77}, {'connected_gene': 'ENSG00000239556', 'score': 20.74}, {'connected_gene': 'POLM', 'score': 10.11}, {'connected_gene': 'RASA4CP', 'score': 9.89}, {'connected_gene': 'DBNL', 'score': 5.43}, {'connected_gene': 'MRPS24', 'score': 0.28}]
chr7	GH07I043890	43890452	43891867	0.58	[{'connected_gene': 'POLM', 'score': 10.06}, {'connected_gene': 'DBNL', 'score': 5.82}, {'connected_gene': 'URGCP-MRPS24', 'score': 0.37}, {'connected_gene': 'MRPS24', 'score': 0.34}, {'connected_gene': 'URGCP', 'score': 0.28}]
chr7	GH07I043892	43892842	43892991	0.46	[{'connected_gene': 'URGCP-MRPS24', 'score': 0.39}, {'connected_gene': 'MRPS24', 'score': 0.34}, {'connected_gene': 'URGCP', 'score': 0.29}]
chr7	GH07I043954	43954682	43954791	0.68	[{'connected_gene': 'PIR62464', 'score': 550.77}, {'connected_gene': 'URGCP', 'score': 11.95}, {'connected_gene': 'UBE2D4', 'score': 11.95}, {'connected_gene': 'MRPS24', 'score': 11.16}, {'connected_gene': 'ENSG00000273432', 'score': 0.21}, {'connected_gene': 'POLR2J4', 'score': 0.21}]
chr7	GH07I043901	43901090	43902277	0.38	[{'connected_gene': 'ENSG00000239556', 'score': 20.59}, {'connected_gene': 'POLM', 'score': 20.28}, {'connected_gene': 'URGCP-MRPS24', 'score': 0.77}, {'connected_gene': 'URGCP', 'score': 0.34}, {'connected_gene': 'MRPS24', 'score': 0.29}]