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
ENST00000450743	[[43966036, 43966155], [43967612, 43967710], [43978029, 43978093], [43982424, 43982456], [43982552, 43982630], [43988230, 43988336], [43990197, 43990291], [43992248, 43992506]]	[[43966131, 43966155], [43967612, 43967710], [43978029, 43978036]]
ENST00000454350	[[43966040, 43966155], [43978029, 43978093], [43988230, 43988336], [43990197, 43990291], [43992248, 43992658]]	[[43966131, 43966155], [43978029, 43978093], [43988230, 43988262]]
ENST00000443780	[[43966042, 43966155], [43967612, 43967710], [43978029, 43978093], [43982424, 43982456], [43982552, 43982630], [43988230, 43988588]]	[[43966131, 43966155], [43967612, 43967710], [43978029, 43978036]]
ENST00000222402	[[43966042, 43966155], [43978029, 43978093], [43982424, 43982456], [43982552, 43982630], [43988230, 43988336], [43990197, 43990291], [43992248, 43995735]]	[[43966131, 43966155], [43978029, 43978093], [43982424, 43982456], [43982552, 43982630], [43988230, 43988336], [43990197, 43990291], [43992248, 43992294]]
ENST00000440899	[[43966068, 43966155], [43967612, 43967710], [43978029, 43978093], [43982424, 43982456], [43982552, 43982630], [43986757, 43986828], [43988230, 43988336], [43990197, 43990291], [43992248, 43992658]]	[[43966131, 43966155], [43967612, 43967710], [43978029, 43978036]]
ENST00000454428	[[43966088, 43966155], [43967612, 43967710], [43978029, 43978093], [43988230, 43988289]]	[[43966131, 43966155], [43967612, 43967710], [43978029, 43978036]]
ENST00000415051	[[43966088, 43966155], [43978029, 43978093], [43982424, 43982456], [43982552, 43982702], [43988230, 43988336], [43990197, 43990291], [43992248, 43992656]]	[[43966131, 43966155], [43978029, 43978093], [43982424, 43982456], [43982552, 43982657]]
ENST00000446008	[[43966114, 43966155], [43978029, 43978093], [43982424, 43982456], [43982552, 43982630], [43988230, 43988798]]	[[43966131, 43966155], [43978029, 43978093], [43982424, 43982456], [43982552, 43982630], [43988230, 43988401]]
ENST00000394798	[[43966116, 43966155], [43978029, 43978093], [43982552, 43982630], [43988230, 43988336], [43990197, 43990291], [43992248, 43993163]]	[[43978087, 43978093], [43982552, 43982630], [43988230, 43988336], [43990197, 43990291], [43992248, 43992294]]
ENST00000440652	[[43966116, 43966155], [43978029, 43978093], [43982552, 43982630], [43988230, 43988336], [43990197, 43990291], [43992248, 43993166]]	[[43966131, 43966155], [43978029, 43978093], [43982552, 43982554]]
ENST00000473007	[[43978029, 43978093], [43988230, 43988336], [43992248, 43992556]]	[[43978029, 43978093], [43988230, 43988262]]
ENST00000491770	[[43988200, 43988336], [43990197, 43990291], [43992248, 43992556]]	None
NM_015983	[[43966034, 43966155], [43978029, 43978093], [43982424, 43982456], [43982552, 43982630], [43988230, 43988336], [43990197, 43990291], [43992248, 43995735]]	[[43966131, 43966155], [43978029, 43978093], [43982424, 43982456], [43982552, 43982630], [43988230, 43988336], [43990197, 43990291], [43992248, 43992294]]

Promoter

Chrom	Start	End	Description
chr7	43966018	43966079	CAGE_peak_1_at_UBE2D4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I043781	43781642	43783400	1.31	[{'connected_gene': 'STK17A', 'score': 13.98}, {'connected_gene': 'BLVRA', 'score': 10.77}, {'connected_gene': 'LINC00957', 'score': 5.72}, {'connected_gene': 'UBE2D4', 'score': 4.62}, {'connected_gene': 'DBNL', 'score': 1.7}, {'connected_gene': 'ENSG00000229497', 'score': 0.37}, {'connected_gene': 'PIR43622', 'score': 0.28}, {'connected_gene': 'LOC102724946', 'score': 0.22}]
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	GH07I043925	43925628	43927866	2.05	[{'connected_gene': 'URGCP', 'score': 550.77}, {'connected_gene': 'UBE2D4', 'score': 550.77}, {'connected_gene': 'POLM', 'score': 10.91}, {'connected_gene': 'RASA4CP', 'score': 6.33}, {'connected_gene': 'DBNL', 'score': 5.03}, {'connected_gene': 'PIR62464', '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	GH07I043939	43939022	43939191	0.49	[{'connected_gene': 'UBE2D4', 'score': 0.39}, {'connected_gene': 'PIR62464', 'score': 0.37}]
chr7	GH07I044086	44086611	44090017	1.28	[{'connected_gene': 'POLM', 'score': 23.09}, {'connected_gene': 'RASA4CP', 'score': 16.38}, {'connected_gene': 'UBE2D4', 'score': 15.34}, {'connected_gene': 'ENSG00000241057', 'score': 13.4}, {'connected_gene': 'PGAM2', 'score': 12.04}, {'connected_gene': 'ENSG00000239775', 'score': 12.04}, {'connected_gene': 'POLD2', 'score': 11.7}, {'connected_gene': 'AEBP1', 'score': 2.67}, {'connected_gene': 'YKT6', 'score': 1.43}]
chr7	GH07I044091	44091664	44093919	0.59	[{'connected_gene': 'POLM', 'score': 35.4}, {'connected_gene': 'RASA4CP', 'score': 16.76}, {'connected_gene': 'ENSG00000241057', 'score': 15.3}, {'connected_gene': 'UBE2D4', 'score': 13.62}, {'connected_gene': 'PGAM2', 'score': 12.01}, {'connected_gene': 'ENSG00000239775', 'score': 12.01}, {'connected_gene': 'POLD2', 'score': 11.71}, {'connected_gene': 'AEBP1', 'score': 0.39}]
chr7	GH07I043943	43943502	43943651	0.68	[{'connected_gene': 'AEBP1', 'score': 10.17}, {'connected_gene': 'COA1', 'score': 9.7}, {'connected_gene': 'PIR62464', 'score': 0.39}, {'connected_gene': 'UBE2D4', 'score': 0.37}, {'connected_gene': 'POLR2J4', 'score': 0.18}]
chr7	GH07I043944	43943062	43943291	0.59	[{'connected_gene': 'AEBP1', 'score': 10.17}, {'connected_gene': 'COA1', 'score': 9.7}, {'connected_gene': 'RASA4CP', 'score': 6.36}, {'connected_gene': 'PIR62464', 'score': 0.39}, {'connected_gene': 'UBE2D4', 'score': 0.37}, {'connected_gene': 'POLR2J4', 'score': 0.18}]
chr7	GH07I044071	44071211	44076490	1.27	[{'connected_gene': 'MIR6838', 'score': 550.77}, {'connected_gene': 'POLM', 'score': 36.12}, {'connected_gene': 'RASA4CP', 'score': 31.21}, {'connected_gene': 'UBE2D4', 'score': 18.13}]
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}]