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
ENST00000263817	[[169779447, 169780332], [169781166, 169781313], [169783665, 169783872], [169787174, 169787372], [169788886, 169789043], [169791693, 169791935], [169792739, 169792943], [169801114, 169801276], [169801366, 169801471], [169814473, 169814638], [169820715, 169820818], [169824936, 169825000], [169825859, 169826061], [169826554, 169826725], [169828356, 169828560], [169830224, 169830350], [169833086, 169833197], [169836375, 169836489], [169842619, 169842794], [169847310, 169847435], [169850220, 169850392], [169851858, 169851992], [169853144, 169853232], [169869781, 169870020], [169870812, 169870864], [169873287, 169873309], [169874559, 169874662], [169887734, 169887832]]	[[169780131, 169780332], [169781166, 169781313], [169783665, 169783872], [169787174, 169787372], [169788886, 169789043], [169791693, 169791935], [169792739, 169792943], [169801114, 169801276], [169801366, 169801471], [169814473, 169814638], [169820715, 169820818], [169824936, 169825000], [169825859, 169826061], [169826554, 169826725], [169828356, 169828560], [169830224, 169830350], [169833086, 169833197], [169836375, 169836489], [169842619, 169842794], [169847310, 169847435], [169850220, 169850392], [169851858, 169851992], [169853144, 169853232], [169869781, 169870020], [169870812, 169870864], [169873287, 169873309], [169874559, 169874635]]
ENST00000439188	[[169779892, 169780332], [169781166, 169781313], [169783665, 169783800], [169787174, 169787372], [169788886, 169789043], [169791693, 169791935], [169792739, 169792943], [169801114, 169801276], [169801366, 169801471], [169814473, 169814638], [169820715, 169820818], [169824936, 169825000], [169825859, 169826061], [169826554, 169826866], [169828356, 169828542]]	[[169826833, 169826866], [169828356, 169828542]]
ENST00000478354	[[169826032, 169826061], [169826554, 169827101]]	None
NM_003742	[[169779448, 169780332], [169781166, 169781313], [169783665, 169783872], [169787174, 169787372], [169788886, 169789043], [169791693, 169791935], [169792739, 169792943], [169801114, 169801276], [169801366, 169801471], [169814473, 169814638], [169820715, 169820818], [169824936, 169825000], [169825859, 169826061], [169826554, 169826725], [169828356, 169828560], [169830224, 169830350], [169833086, 169833197], [169836375, 169836489], [169842619, 169842794], [169847310, 169847435], [169850220, 169850392], [169851858, 169851992], [169853144, 169853232], [169869781, 169870020], [169870812, 169870864], [169873287, 169873309], [169874559, 169874662], [169887734, 169887833]]	[[169780131, 169780332], [169781166, 169781313], [169783665, 169783872], [169787174, 169787372], [169788886, 169789043], [169791693, 169791935], [169792739, 169792943], [169801114, 169801276], [169801366, 169801471], [169814473, 169814638], [169820715, 169820818], [169824936, 169825000], [169825859, 169826061], [169826554, 169826725], [169828356, 169828560], [169830224, 169830350], [169833086, 169833197], [169836375, 169836489], [169842619, 169842794], [169847310, 169847435], [169850220, 169850392], [169851858, 169851992], [169853144, 169853232], [169869781, 169870020], [169870812, 169870864], [169873287, 169873309], [169874559, 169874635]]

Promoter

Chrom	Start	End	Description
chr2	169828557	169828566	CAGE_peak_2_at_ABCB11_5end
chr2	169887827	169887839	CAGE_peak_1_at_ABCB11_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I169010	169010629	169013562	1.44	[{'connected_gene': 'ABCB11', 'score': 12.31}, {'connected_gene': 'SSB', 'score': 11.01}, {'connected_gene': 'ENSG00000235321', 'score': 10.8}, {'connected_gene': 'SPC25', 'score': 0.15}]
chr2	GH02I169031	169031314	169031373	0.99	[{'connected_gene': 'ABCB11', 'score': 550.77}, {'connected_gene': 'SPC25', 'score': 0.13}]
chr2	GH02I168991	168991577	168993413	1.03	[{'connected_gene': 'ABCB11', 'score': 11.23}, {'connected_gene': 'SPC25', 'score': 0.18}]
chr2	GH02I168959	168959931	168960311	0.22	[{'connected_gene': 'ABCB11', 'score': 36.27}, {'connected_gene': 'ENSG00000235321', 'score': 11.54}, {'connected_gene': 'SPC25', 'score': 0.25}]
chr2	GH02I169095	169095401	169096200	1.1	[{'connected_gene': 'ABCB11', 'score': 10.27}, {'connected_gene': 'DHRS9', 'score': 8.58}, {'connected_gene': 'ENSG00000235321', 'score': 0.77}]
chr2	GH02I169083	169083001	169083600	0.43	[{'connected_gene': 'ABCB11', 'score': 11.15}, {'connected_gene': 'ENSG00000235321', 'score': 0.37}, {'connected_gene': 'DHRS9', 'score': 0.37}]
chr2	GH02I168935	168935649	168937187	1.2	[{'connected_gene': 'SPC25', 'score': 12.22}, {'connected_gene': 'G6PC2', 'score': 5.38}, {'connected_gene': 'NOSTRIN', 'score': 4.92}, {'connected_gene': 'ABCB11', 'score': 0.15}]
chr2	GH02I169069	169069201	169074919	1.88	[{'connected_gene': 'DHRS9', 'score': 581.93}, {'connected_gene': 'PPIG', 'score': 12.97}, {'connected_gene': 'ENSG00000235321', 'score': 11.87}, {'connected_gene': 'ABCB11', 'score': 11.22}, {'connected_gene': 'PHOSPHO2', 'score': 9.71}]
chr2	GH02I169036	169036800	169037371	0.7	[{'connected_gene': 'DHRS9', 'score': 39.47}, {'connected_gene': 'ABCB11', 'score': 0.77}]
chr2	GH02I169037	169037999	169038829	1.22	[{'connected_gene': 'DHRS9', 'score': 24.98}, {'connected_gene': 'ABCB11', 'score': 0.77}]
chr2	GH02I169091	169091541	169092822	0.84	[{'connected_gene': 'DHRS9', 'score': 18.51}, {'connected_gene': 'ABCB11', 'score': 10.64}, {'connected_gene': 'ENSG00000235321', 'score': 0.44}]
chr2	GH02I169046	169046488	169047650	0.43	[{'connected_gene': 'DHRS9', 'score': 8.25}, {'connected_gene': 'ENSG00000235321', 'score': 6.58}, {'connected_gene': 'ABCB11', 'score': 0.39}]
chr2	GH02I169066	169066765	169068200	1.02	[{'connected_gene': 'DHRS9', 'score': 557.35}, {'connected_gene': 'ENSG00000235321', 'score': 11.85}, {'connected_gene': 'ABCB11', 'score': 11.24}]
chr2	GH02I169090	169090001	169090400	0.2	[{'connected_gene': 'DHRS9', 'score': 11.26}, {'connected_gene': 'ABCB11', 'score': 10.64}, {'connected_gene': 'ENSG00000235321', 'score': 0.39}]
chr2	GH02I169115	169115051	169117863	0.6	[{'connected_gene': 'UBE2V1P6', 'score': 550.77}, {'connected_gene': 'ABCB11', 'score': 10.65}, {'connected_gene': 'GC02M169275', 'score': 0.1}]
chr2	GH02I168964	168964030	168966087	0.52	[{'connected_gene': 'ENSG00000235321', 'score': 10.92}, {'connected_gene': 'ABCB11', 'score': 10.6}, {'connected_gene': 'SPC25', 'score': 0.23}]
chr2	GH02I168961	168961751	168961900	0.85	[{'connected_gene': 'ENSG00000235321', 'score': 11.55}, {'connected_gene': 'ABCB11', 'score': 10.44}, {'connected_gene': 'SPC25', 'score': 0.25}]
chr2	GH02I169047	169047931	169048057	0.2	[{'connected_gene': 'ENSG00000235321', 'score': 6.96}, {'connected_gene': 'ABCB11', 'score': 0.39}, {'connected_gene': 'DHRS9', 'score': 0.37}]
chr2	GH02I169080	169080001	169080800	0.63	[{'connected_gene': 'ENSG00000235321', 'score': 16.42}, {'connected_gene': 'ABCB11', 'score': 11.15}, {'connected_gene': 'DHRS9', 'score': 0.37}]
chr2	GH02I169050	169050473	169051392	1.13	[{'connected_gene': 'ENSG00000235321', 'score': 10.09}, {'connected_gene': 'DHRS9', 'score': 0.39}, {'connected_gene': 'ABCB11', 'score': 0.37}]