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
ENST00000423557	[[206940946, 206942073], [206943173, 206943239], [206944251, 206944404], [206944700, 206944760], [206945615, 206945839]]	[[206941980, 206942073], [206943173, 206943239], [206944251, 206944404], [206944700, 206944760], [206945615, 206945780]]
ENST00000471071	[[206942039, 206942073], [206943173, 206943239], [206944251, 206944544]]	None
ENST00000367099	[[206942965, 206943239], [206944251, 206944534]]	None
NM_000572	[[206940947, 206942073], [206943173, 206943239], [206944251, 206944404], [206944700, 206944760], [206945615, 206945839]]	[[206941980, 206942073], [206943173, 206943239], [206944251, 206944404], [206944700, 206944760], [206945615, 206945780]]

Promoter

Chrom	Start	End	Description
chr1	206944507	206944524	CAGE_peak_3_at_IL10_5end
chr1	206944527	206944552	CAGE_peak_2_at_IL10_5end
chr1	206945673	206945712	CAGE_peak_4_at_IL10_5end
chr1	206945754	206945768	CAGE_peak_5_at_IL10_5end
chr1	206945830	206945845	CAGE_peak_1_at_IL10_5end
chr1	206945939	206945950	CAGE_peak_10_at_IL10_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I206690	206690481	206695560	1.21	[{'connected_gene': 'IKBKE', 'score': 14.62}, {'connected_gene': 'FCMR', 'score': 10.44}, {'connected_gene': 'PIGR', 'score': 10.44}, {'connected_gene': 'IL10', 'score': 10.41}, {'connected_gene': 'IL19', 'score': 10.31}, {'connected_gene': 'EIF2D', 'score': 10.02}, {'connected_gene': 'DYRK3', 'score': 9.31}, {'connected_gene': 'MAPKAPK2', 'score': 5.87}, {'connected_gene': 'GC01M206696', 'score': 0.77}]
chr1	GH01I206648	206648171	206656277	0.98	[{'connected_gene': 'MAPKAPK2', 'score': 12.34}, {'connected_gene': 'DYRK3', 'score': 11.73}, {'connected_gene': 'EIF2D', 'score': 11.27}, {'connected_gene': 'C1orf147', 'score': 10.44}, {'connected_gene': 'IKBKE', 'score': 10.33}, {'connected_gene': 'IL19', 'score': 10.1}, {'connected_gene': 'PIGR', 'score': 9.91}, {'connected_gene': 'FCAMR', 'score': 9.91}, {'connected_gene': 'RASSF5', 'score': 9.85}, {'connected_gene': 'IL10', 'score': 9.85}, {'connected_gene': 'PIR60472', 'score': 0.77}, {'connected_gene': 'LOC105372875', 'score': 0.31}]
chr1	GH01I206793	206793255	206793556	0.97	[{'connected_gene': 'MAPKAPK2', 'score': 16.05}, {'connected_gene': 'IL20', 'score': 10.35}, {'connected_gene': 'RASSF5', 'score': 8.61}, {'connected_gene': 'IL19', 'score': 3.44}, {'connected_gene': 'IKBKE', 'score': 3.38}, {'connected_gene': 'DYRK3', 'score': 2.76}, {'connected_gene': 'IL10', 'score': 1.54}]
chr1	GH01I206727	206727754	206731024	0.2	[{'connected_gene': 'MAPKAPK2', 'score': 16.74}, {'connected_gene': 'IL19', 'score': 11.85}, {'connected_gene': 'IL10', 'score': 11.17}, {'connected_gene': 'FCMR', 'score': 10.64}, {'connected_gene': 'PIGR', 'score': 10.63}, {'connected_gene': 'FCAMR', 'score': 10.61}, {'connected_gene': 'IL24', 'score': 10.43}, {'connected_gene': 'IL20', 'score': 10.27}, {'connected_gene': 'C1orf116', 'score': 9.57}, {'connected_gene': 'DYRK3', 'score': 7.63}, {'connected_gene': 'ENSG00000199349', 'score': 0.37}, {'connected_gene': 'GC01M206749', 'score': 0.37}, {'connected_gene': 'GC01P206699', 'score': 0.29}, {'connected_gene': 'PIR58159', 'score': 0.29}]
chr1	GH01I206722	206722583	206724792	1.43	[{'connected_gene': 'MAPKAPK2', 'score': 19.12}, {'connected_gene': 'IL19', 'score': 11.31}, {'connected_gene': 'IL10', 'score': 11.07}, {'connected_gene': 'FCMR', 'score': 10.57}, {'connected_gene': 'PIGR', 'score': 10.56}, {'connected_gene': 'IL24', 'score': 10.31}, {'connected_gene': 'IL20', 'score': 9.8}, {'connected_gene': 'DYRK3', 'score': 7.35}, {'connected_gene': 'RASSF5', 'score': 5.19}, {'connected_gene': 'GC01P206699', 'score': 0.34}, {'connected_gene': 'ENSG00000199349', 'score': 0.34}, {'connected_gene': 'PIR58159', 'score': 0.34}, {'connected_gene': 'GC01M206749', 'score': 0.34}]
chr1	GH01I206725	206725676	206726000	0.97	[{'connected_gene': 'MAPKAPK2', 'score': 11.55}, {'connected_gene': 'IL19', 'score': 11.32}, {'connected_gene': 'IL10', 'score': 11.09}, {'connected_gene': 'FCMR', 'score': 10.57}, {'connected_gene': 'PIGR', 'score': 10.56}, {'connected_gene': 'IL24', 'score': 10.31}, {'connected_gene': 'IL20', 'score': 9.81}, {'connected_gene': 'ENSG00000199349', 'score': 0.34}, {'connected_gene': 'GC01M206749', 'score': 0.34}, {'connected_gene': 'GC01P206699', 'score': 0.31}, {'connected_gene': 'PIR58159', 'score': 0.31}]
chr1	GH01I206726	206726376	206726545	0.92	[{'connected_gene': 'MAPKAPK2', 'score': 11.55}, {'connected_gene': 'IL19', 'score': 11.32}, {'connected_gene': 'IL10', 'score': 11.09}, {'connected_gene': 'FCMR', 'score': 10.57}, {'connected_gene': 'PIGR', 'score': 10.56}, {'connected_gene': 'IL24', 'score': 10.31}, {'connected_gene': 'IL20', 'score': 9.81}, {'connected_gene': 'ENSG00000199349', 'score': 0.34}, {'connected_gene': 'GC01M206749', 'score': 0.34}, {'connected_gene': 'GC01P206699', 'score': 0.31}, {'connected_gene': 'PIR58159', 'score': 0.31}]
chr1	GH01I206721	206721447	206721970	0.6	[{'connected_gene': 'MAPKAPK2', 'score': 11.57}, {'connected_gene': 'IL19', 'score': 11.31}, {'connected_gene': 'IL10', 'score': 11.07}, {'connected_gene': 'FCMR', 'score': 10.57}, {'connected_gene': 'PIGR', 'score': 10.56}, {'connected_gene': 'IL24', 'score': 10.31}, {'connected_gene': 'IL20', 'score': 9.8}, {'connected_gene': 'GC01P206699', 'score': 0.34}, {'connected_gene': 'PIR58159', 'score': 0.34}, {'connected_gene': 'ENSG00000199349', 'score': 0.31}, {'connected_gene': 'GC01M206749', 'score': 0.31}]
chr1	GH01I206709	206709101	206711081	1.08	[{'connected_gene': 'MAPKAPK2', 'score': 12.49}, {'connected_gene': 'IL19', 'score': 10.59}, {'connected_gene': 'IL10', 'score': 10.51}, {'connected_gene': 'PIGR', 'score': 10.16}, {'connected_gene': 'FCAMR', 'score': 10.16}, {'connected_gene': 'FCMR', 'score': 9.68}, {'connected_gene': 'C1orf147', 'score': 8.89}, {'connected_gene': 'DYRK3', 'score': 7.91}, {'connected_gene': 'CD55', 'score': 4.36}, {'connected_gene': 'GC01P206699', 'score': 0.39}, {'connected_gene': 'PIR58159', 'score': 0.39}, {'connected_gene': 'ENSG00000199349', 'score': 0.28}, {'connected_gene': 'GC01M206749', 'score': 0.28}]
chr1	GH01I206711	206711592	206712062	0.2	[{'connected_gene': 'MAPKAPK2', 'score': 12.49}, {'connected_gene': 'IL19', 'score': 10.59}, {'connected_gene': 'IL10', 'score': 10.51}, {'connected_gene': 'PIGR', 'score': 10.16}, {'connected_gene': 'FCAMR', 'score': 10.16}, {'connected_gene': 'FCMR', 'score': 9.68}, {'connected_gene': 'C1orf147', 'score': 8.89}, {'connected_gene': 'GC01P206699', 'score': 0.39}, {'connected_gene': 'PIR58159', 'score': 0.39}, {'connected_gene': 'ENSG00000199349', 'score': 0.28}, {'connected_gene': 'GC01M206749', 'score': 0.28}]
chr1	GH01I206966	206966907	206974808	1.73	[{'connected_gene': 'FCAMR', 'score': 550.77}, {'connected_gene': 'PIGR', 'score': 12.5}, {'connected_gene': 'FCMR', 'score': 12.23}, {'connected_gene': 'IL20', 'score': 10.52}, {'connected_gene': 'IL24', 'score': 10.35}, {'connected_gene': 'IL10', 'score': 10.1}, {'connected_gene': 'IL19', 'score': 9.74}, {'connected_gene': 'MAPKAPK2', 'score': 9.74}, {'connected_gene': 'ENSG00000271680', 'score': 9.7}, {'connected_gene': 'C1orf116', 'score': 9.68}, {'connected_gene': 'TRP-TGG5-1', 'score': 0.29}]
chr1	GH01I206975	206975094	206976018	0.63	[{'connected_gene': 'PIGR', 'score': 12.3}, {'connected_gene': 'FCMR', 'score': 12.22}, {'connected_gene': 'IL20', 'score': 10.52}, {'connected_gene': 'IL10', 'score': 10.1}, {'connected_gene': 'MAPKAPK2', 'score': 9.25}, {'connected_gene': 'ENSG00000271680', 'score': 6.97}, {'connected_gene': 'FCAMR', 'score': 0.77}, {'connected_gene': 'TRP-TGG5-1', 'score': 0.31}]
chr1	GH01I206978	206978650	206979424	0.57	[{'connected_gene': 'PIGR', 'score': 12.28}, {'connected_gene': 'FCMR', 'score': 12.21}, {'connected_gene': 'IL20', 'score': 10.52}, {'connected_gene': 'IL10', 'score': 10.1}, {'connected_gene': 'MAPKAPK2', 'score': 9.25}, {'connected_gene': 'ENSG00000271680', 'score': 6.25}, {'connected_gene': 'C4BPA', 'score': 5.24}, {'connected_gene': 'FCAMR', 'score': 0.44}, {'connected_gene': 'TRP-TGG5-1', 'score': 0.31}]
chr1	GH01I206791	206791474	206792870	0.89	[{'connected_gene': 'IL20', 'score': 10.35}, {'connected_gene': 'MAPKAPK2', 'score': 10.26}, {'connected_gene': 'IL24', 'score': 10.22}, {'connected_gene': 'IL19', 'score': 0.44}, {'connected_gene': 'IL10', 'score': 0.37}]
chr1	GH01I206833	206833068	206833422	0.58	[{'connected_gene': 'IL20', 'score': 11.58}, {'connected_gene': 'IL19', 'score': 11.13}, {'connected_gene': 'FCMR', 'score': 11.13}, {'connected_gene': 'PIGR', 'score': 11.11}, {'connected_gene': 'IL24', 'score': 10.74}, {'connected_gene': 'IL10', 'score': 10.67}, {'connected_gene': 'MAPKAPK2', 'score': 9.73}, {'connected_gene': 'LOC105372878', 'score': 0.44}]
chr1	GH01I206864	206864596	206865735	0.85	[{'connected_gene': 'IL20', 'score': 550.77}, {'connected_gene': 'IL19', 'score': 16.12}, {'connected_gene': 'IL24', 'score': 11.75}, {'connected_gene': 'FCMR', 'score': 10.99}, {'connected_gene': 'PIGR', 'score': 10.94}, {'connected_gene': 'FCAMR', 'score': 10.71}, {'connected_gene': 'IL10', 'score': 10.17}, {'connected_gene': 'LOC105372878', 'score': 0.34}]
chr1	GH01I206790	206790614	206790785	1.1	[{'connected_gene': 'IL20', 'score': 10.19}, {'connected_gene': 'IL24', 'score': 9.56}, {'connected_gene': 'FCMR', 'score': 2.86}, {'connected_gene': 'IL19', 'score': 2.54}, {'connected_gene': 'IL10', 'score': 2.48}]
chr1	GH01I206838	206838736	206840479	0.38	[{'connected_gene': 'IL20', 'score': 11.56}, {'connected_gene': 'IL24', 'score': 11.35}, {'connected_gene': 'IL19', 'score': 10.85}, {'connected_gene': 'FCMR', 'score': 10.8}, {'connected_gene': 'PIGR', 'score': 10.77}, {'connected_gene': 'FCAMR', 'score': 10.65}, {'connected_gene': 'IL10', 'score': 9.71}, {'connected_gene': 'MAPKAPK2', 'score': 9.7}, {'connected_gene': 'C1orf147', 'score': 8.62}, {'connected_gene': 'LOC105372878', 'score': 0.77}]
chr1	GH01I206787	206787861	206788221	0.22	[{'connected_gene': 'IL20', 'score': 10.18}, {'connected_gene': 'IL24', 'score': 9.56}, {'connected_gene': 'RASSF5', 'score': 5.83}, {'connected_gene': 'MAPKAPK2', 'score': 4.65}, {'connected_gene': 'DYRK3', 'score': 2.98}, {'connected_gene': 'IKBKE', 'score': 1.93}, {'connected_gene': 'IL19', 'score': 1.68}, {'connected_gene': 'IL10', 'score': 0.39}]
chr1	GH01I206768	206768648	206773200	2.02	[{'connected_gene': 'IL10', 'score': 556.83}, {'connected_gene': 'ENSG00000284486', 'score': 550.77}, {'connected_gene': 'IL19', 'score': 11.73}, {'connected_gene': 'MAPKAPK2', 'score': 11.69}, {'connected_gene': 'IL24', 'score': 10.06}, {'connected_gene': 'IL20', 'score': 10.0}, {'connected_gene': 'C4BPB', 'score': 4.39}, {'connected_gene': 'RASSF5', 'score': 1.58}]
chr1	GH01I206802	206802689	206804785	1.24	[{'connected_gene': 'IL10', 'score': 11.69}, {'connected_gene': 'IL19', 'score': 0.77}, {'connected_gene': 'LOC105372878', 'score': 0.28}]
chr1	GH01I206782	206782199	206782859	1.38	[{'connected_gene': 'IL10', 'score': 43.07}, {'connected_gene': 'IL19', 'score': 1.61}]
chr1	GH01I206836	206836426	206836485	0.5	[{'connected_gene': 'IL19', 'score': 560.86}, {'connected_gene': 'IL20', 'score': 11.56}, {'connected_gene': 'IL24', 'score': 11.33}, {'connected_gene': 'FCMR', 'score': 10.79}, {'connected_gene': 'PIGR', 'score': 10.76}, {'connected_gene': 'FCAMR', 'score': 10.65}, {'connected_gene': 'IL10', 'score': 9.71}, {'connected_gene': 'MAPKAPK2', 'score': 9.7}, {'connected_gene': 'C1orf147', 'score': 8.62}, {'connected_gene': 'LOC105372878', 'score': 0.44}]
chr1	GH01I206734	206734576	206734785	0.85	[{'connected_gene': 'IL19', 'score': 11.33}, {'connected_gene': 'IL10', 'score': 11.2}, {'connected_gene': 'MAPKAPK2', 'score': 10.78}, {'connected_gene': 'FCMR', 'score': 10.59}, {'connected_gene': 'PIGR', 'score': 10.58}, {'connected_gene': 'IL20', 'score': 10.27}, {'connected_gene': 'IL24', 'score': 10.1}, {'connected_gene': 'C1orf116', 'score': 9.57}, {'connected_gene': 'CD55', 'score': 4.54}, {'connected_gene': 'ENSG00000199349', 'score': 0.39}, {'connected_gene': 'GC01M206749', 'score': 0.39}, {'connected_gene': 'GC01P206699', 'score': 0.28}, {'connected_gene': 'PIR58159', 'score': 0.28}]
chr1	GH01I206797	206797256	206797305	0.51	[{'connected_gene': 'IL19', 'score': 550.77}, {'connected_gene': 'IL10', 'score': 11.98}, {'connected_gene': 'IL20', 'score': 10.48}, {'connected_gene': 'MAPKAPK2', 'score': 10.46}, {'connected_gene': 'PIGR', 'score': 9.98}, {'connected_gene': 'FCAMR', 'score': 9.96}, {'connected_gene': 'IL24', 'score': 9.58}]
chr1	GH01I206798	206798812	206798871	0.81	[{'connected_gene': 'IL19', 'score': 550.77}, {'connected_gene': 'IL10', 'score': 0.34}]
chr1	GH01I206784	206784129	206785178	0.96	[{'connected_gene': 'IL19', 'score': 0.39}, {'connected_gene': 'IL10', 'score': 0.39}]
chr1	GH01I206757	206757189	206758256	0.89	[{'connected_gene': 'IL19', 'score': 11.26}, {'connected_gene': 'IL24', 'score': 10.38}, {'connected_gene': 'IL20', 'score': 10.32}, {'connected_gene': 'FCMR', 'score': 6.19}, {'connected_gene': 'IL10', 'score': 3.04}, {'connected_gene': 'IKBKE', 'score': 2.83}, {'connected_gene': 'RASSF5', 'score': 1.26}, {'connected_gene': 'LOC105372877', 'score': 0.44}, {'connected_gene': 'GC01M206760', 'score': 0.44}]
chr1	GH01I206753	206753211	206753464	0.46	[{'connected_gene': 'LOC105372877', 'score': 550.77}, {'connected_gene': 'MAPKAPK2', 'score': 16.33}, {'connected_gene': 'IL19', 'score': 14.96}, {'connected_gene': 'IL10', 'score': 11.71}, {'connected_gene': 'IL24', 'score': 10.92}, {'connected_gene': 'IL20', 'score': 10.56}, {'connected_gene': 'PIGR', 'score': 10.15}, {'connected_gene': 'FCAMR', 'score': 10.06}, {'connected_gene': 'EIF2D', 'score': 9.79}, {'connected_gene': 'RASSF5', 'score': 9.01}, {'connected_gene': 'DYRK3', 'score': 3.22}, {'connected_gene': 'IKBKE', 'score': 2.92}, {'connected_gene': 'GC01M206760', 'score': 0.39}]
chr1	GH01I206748	206748608	206748898	0.22	[{'connected_gene': 'ENSG00000199349', 'score': 550.77}, {'connected_gene': 'GC01M206749', 'score': 550.77}, {'connected_gene': 'MAPKAPK2', 'score': 14.55}, {'connected_gene': 'IL19', 'score': 11.87}, {'connected_gene': 'IL10', 'score': 11.68}, {'connected_gene': 'IL20', 'score': 10.55}, {'connected_gene': 'RASSF5', 'score': 2.18}, {'connected_gene': 'IKBKE', 'score': 1.89}, {'connected_gene': 'LOC105372877', 'score': 0.77}]
chr1	GH01I206695	206695740	206698604	0.6	[{'connected_gene': 'GC01M206696', 'score': 550.77}, {'connected_gene': 'GC01P206699', 'score': 550.77}, {'connected_gene': 'RPS14P1', 'score': 550.77}, {'connected_gene': 'PIR58159', 'score': 550.77}, {'connected_gene': 'EIF2D', 'score': 21.19}, {'connected_gene': 'IKBKE', 'score': 14.5}, {'connected_gene': 'FCMR', 'score': 10.45}, {'connected_gene': 'PIGR', 'score': 10.44}, {'connected_gene': 'IL10', 'score': 10.41}, {'connected_gene': 'IL19', 'score': 10.18}, {'connected_gene': 'IL20', 'score': 10.08}, {'connected_gene': 'DYRK3', 'score': 7.92}, {'connected_gene': 'MAPKAPK2', 'score': 5.81}]