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
ENST00000283882	[[75327607, 75327940], [75338921, 75339080], [75428987, 75429107], [75445722, 75445850], [75446432, 75446652], [75448475, 75448593], [75467186, 75467383]]	[[75327849, 75327940], [75338921, 75339080], [75428987, 75429107], [75445722, 75445850], [75446432, 75446652], [75448475, 75448593], [75467186, 75467250]]
ENST00000564793	[[75327803, 75327940], [75338921, 75339080], [75396772, 75396933]]	None
ENST00000570103	[[75327595, 75327940], [75338921, 75339080], [75340284, 75340443]]	None
ENST00000562602	[[75327805, 75327940], [75335654, 75335803], [75338921, 75339336]]	None
ENST00000569341	[[75406188, 75406466], [75425277, 75425406], [75428987, 75429034]]	[[75425393, 75425406], [75428987, 75429034]]
ENST00000570279	[[75425179, 75425406], [75428987, 75429109]]	None
ENST00000566901	[[75428579, 75429107], [75445722, 75445850], [75446432, 75446652], [75448475, 75448593], [75467186, 75467359]]	None
ENST00000565646	[[75429032, 75429107], [75445722, 75445850], [75446432, 75446652], [75467186, 75467371]]	None
ENST00000564286	[[75440469, 75440596], [75445722, 75445850], [75446432, 75446652], [75448475, 75448593], [75467186, 75467368]]	None
ENST00000566254	[[75448530, 75448593], [75452915, 75453091], [75467186, 75467289]]	[[75448530, 75448593], [75452915, 75453003]]
NM_006324	[[75327607, 75327940], [75338921, 75339080], [75428987, 75429107], [75445722, 75445850], [75446432, 75446652], [75448475, 75448593], [75467186, 75467387]]	[[75327849, 75327940], [75338921, 75339080], [75428987, 75429107], [75445722, 75445850], [75446432, 75446652], [75448475, 75448593], [75467186, 75467250]]

Promoter

Chrom	Start	End	Description
chr16	75467274	75467283	CAGE_peak_3_at_CFDP1_5end
chr16	75467318	75467408	CAGE_peak_1_at_CFDP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I075335	75335501	75335533	0.22	[{'connected_gene': 'BCAR1', 'score': 2.06}, {'connected_gene': 'CFDP1', 'score': 1.47}, {'connected_gene': 'ENSG00000259999', 'score': 0.39}, {'connected_gene': 'ENSG00000261783', 'score': 0.25}]
chr16	GH16I075452	75452460	75453605	0.63	[{'connected_gene': 'CTRB2', 'score': 10.91}, {'connected_gene': 'CFDP1', 'score': 9.14}, {'connected_gene': 'ENSG00000261476', 'score': 0.44}, {'connected_gene': 'TMEM170A', 'score': 0.39}, {'connected_gene': 'ENSG00000261717', 'score': 0.39}, {'connected_gene': 'ENSG00000274220', 'score': 0.37}]
chr16	GH16I075215	75215616	75220684	1.4	[{'connected_gene': 'CTRB1', 'score': 550.77}, {'connected_gene': 'CTRB2', 'score': 13.16}, {'connected_gene': 'BCAR1', 'score': 11.87}, {'connected_gene': 'ENSG00000261783', 'score': 7.11}, {'connected_gene': 'CFDP1', 'score': 6.16}]
chr16	GH16I075278	75278313	75284086	0.62	[{'connected_gene': 'LOC105371345', 'score': 550.77}, {'connected_gene': 'ENSG00000261783', 'score': 30.82}, {'connected_gene': 'CFDP1', 'score': 11.04}, {'connected_gene': 'BCAR1', 'score': 6.51}, {'connected_gene': 'RNU6-758P', 'score': 0.44}]
chr16	GH16I075432	75432506	75435001	2.11	[{'connected_gene': 'CFDP1', 'score': 578.05}, {'connected_gene': 'ENSG00000274220', 'score': 550.77}, {'connected_gene': 'ENSG00000261783', 'score': 39.33}, {'connected_gene': 'RFWD3', 'score': 25.57}, {'connected_gene': 'ADAT1', 'score': 11.91}, {'connected_gene': 'GLG1', 'score': 11.71}, {'connected_gene': 'TMEM231', 'score': 11.35}, {'connected_gene': 'ENSG00000261717', 'score': 0.29}]
chr16	GH16I075303	75303504	75311446	1.51	[{'connected_gene': 'ENSG00000261783', 'score': 22.08}, {'connected_gene': 'ENSG00000214331', 'score': 17.6}, {'connected_gene': 'BCAR1', 'score': 16.5}, {'connected_gene': 'RFWD3', 'score': 13.66}, {'connected_gene': 'CFDP1', 'score': 13.31}, {'connected_gene': 'RNU6-758P', 'score': 11.97}, {'connected_gene': 'WDR59', 'score': 10.54}, {'connected_gene': 'ENSG00000259999', 'score': 0.37}]
chr16	GH16I075319	75319081	75321937	1.16	[{'connected_gene': 'ENSG00000261783', 'score': 22.44}, {'connected_gene': 'BCAR1', 'score': 11.78}, {'connected_gene': 'RNU6-758P', 'score': 11.75}, {'connected_gene': 'CFDP1', 'score': 10.6}, {'connected_gene': 'ENSG00000259999', 'score': 0.77}]
chr16	GH16I075316	75316801	75318332	1.19	[{'connected_gene': 'ENSG00000261783', 'score': 17.4}, {'connected_gene': 'BCAR1', 'score': 11.79}, {'connected_gene': 'CFDP1', 'score': 10.59}, {'connected_gene': 'ENSG00000259999', 'score': 0.44}, {'connected_gene': 'RNU6-758P', 'score': 0.29}]
chr16	GH16I075334	75334001	75334400	0.38	[{'connected_gene': 'ENSG00000261783', 'score': 9.92}, {'connected_gene': 'BCAR1', 'score': 5.12}, {'connected_gene': 'ENSG00000259999', 'score': 0.44}, {'connected_gene': 'CFDP1', 'score': 0.15}]
chr16	GH16I075471	75471363	75473237	1.07	[{'connected_gene': 'ENSG00000261783', 'score': 30.67}, {'connected_gene': 'WDR59', 'score': 12.93}, {'connected_gene': 'CHST6', 'score': 12.39}, {'connected_gene': 'CHST5', 'score': 12.05}, {'connected_gene': 'TMEM231', 'score': 12.01}, {'connected_gene': 'ENSG00000252122', 'score': 10.97}, {'connected_gene': 'GABARAPL2', 'score': 10.8}, {'connected_gene': 'CFDP1', 'score': 10.21}, {'connected_gene': 'ENSG00000203472', 'score': 0.77}, {'connected_gene': 'TMEM170A', 'score': 0.44}]
chr16	GH16I075237	75236378	75241228	1.21	[{'connected_gene': 'ENSG00000214331', 'score': 12.64}, {'connected_gene': 'CTRB2', 'score': 12.46}, {'connected_gene': 'RFWD3', 'score': 11.66}, {'connected_gene': 'ENSG00000261079', 'score': 10.38}, {'connected_gene': 'BCAR1', 'score': 9.82}, {'connected_gene': 'ZFP1', 'score': 6.26}, {'connected_gene': 'ENSG00000261783', 'score': 5.74}, {'connected_gene': 'CFDP1', 'score': 4.48}, {'connected_gene': 'LOC100506281', 'score': 0.39}, {'connected_gene': 'ENSG00000280152', 'score': 0.39}]
chr16	GH16I075420	75420543	75421887	1.24	[{'connected_gene': 'ENSG00000261783', 'score': 22.37}, {'connected_gene': 'CTRB2', 'score': 11.1}, {'connected_gene': 'CHST6', 'score': 10.93}, {'connected_gene': 'RNU6-758P', 'score': 10.64}, {'connected_gene': 'CFDP1', 'score': 0.39}, {'connected_gene': 'GC16M075409', 'score': 0.39}, {'connected_gene': 'ENSG00000252122', 'score': 0.39}, {'connected_gene': 'ENSG00000261717', 'score': 0.26}]
chr16	GH16I075423	75423391	75425307	0.74	[{'connected_gene': 'ENSG00000261783', 'score': 28.64}, {'connected_gene': 'CHST6', 'score': 10.93}, {'connected_gene': 'CFDP1', 'score': 10.75}, {'connected_gene': 'RNU6-758P', 'score': 10.64}, {'connected_gene': 'GC16M075409', 'score': 0.39}, {'connected_gene': 'ENSG00000252122', 'score': 0.39}, {'connected_gene': 'ENSG00000261717', 'score': 0.26}]
chr16	GH16I075461	75461868	75465372	2.09	[{'connected_gene': 'ENSG00000261717', 'score': 550.77}, {'connected_gene': 'TMEM170A', 'score': 550.77}, {'connected_gene': 'ENSG00000261783', 'score': 27.97}, {'connected_gene': 'RFWD3', 'score': 21.86}, {'connected_gene': 'ADAT1', 'score': 12.8}, {'connected_gene': 'GABARAPL2', 'score': 10.74}, {'connected_gene': 'KARS', 'score': 9.89}, {'connected_gene': 'CFDP1', 'score': 8.56}, {'connected_gene': 'BCAR1', 'score': 4.19}, {'connected_gene': 'ENSG00000261476', 'score': 0.77}]
chr16	GH16I075350	75350530	75351936	0.86	[{'connected_gene': 'ENSG00000261783', 'score': 22.95}, {'connected_gene': 'RNU6-758P', 'score': 10.95}, {'connected_gene': 'BCAR1', 'score': 4.9}, {'connected_gene': 'ENSG00000259999', 'score': 0.31}, {'connected_gene': 'CFDP1', 'score': 0.18}]
chr16	GH16I075375	75375456	75381735	1.59	[{'connected_gene': 'ENSG00000261783', 'score': 34.17}, {'connected_gene': 'ENSG00000252122', 'score': 11.99}, {'connected_gene': 'RNU6-758P', 'score': 11.53}, {'connected_gene': 'CFDP1', 'score': 10.58}, {'connected_gene': 'BCAR1', 'score': 5.13}, {'connected_gene': 'ENSG00000259999', 'score': 0.23}]
chr16	GH16I075381	75381742	75383653	0.2	[{'connected_gene': 'ENSG00000261783', 'score': 574.17}, {'connected_gene': 'ENSG00000252122', 'score': 12.0}, {'connected_gene': 'RNU6-758P', 'score': 11.52}, {'connected_gene': 'GC16M075409', 'score': 0.31}, {'connected_gene': 'CFDP1', 'score': 0.23}]
chr16	GH16I075385	75385124	75386272	1.21	[{'connected_gene': 'ENSG00000261783', 'score': 22.91}, {'connected_gene': 'ENSG00000252122', 'score': 12.03}, {'connected_gene': 'RNU6-758P', 'score': 11.52}, {'connected_gene': 'GC16M075409', 'score': 0.34}, {'connected_gene': 'CFDP1', 'score': 0.25}]
chr16	GH16I075293	75293339	75297716	0.97	[{'connected_gene': 'ENSG00000261783', 'score': 30.85}, {'connected_gene': 'CFDP1', 'score': 10.95}, {'connected_gene': 'BCAR1', 'score': 5.16}, {'connected_gene': 'RNU6-758P', 'score': 0.44}, {'connected_gene': 'LOC105371345', 'score': 0.37}, {'connected_gene': 'ENSG00000259999', 'score': 0.31}]
chr16	GH16I075322	75322376	75324511	0.99	[{'connected_gene': 'ENSG00000259999', 'score': 550.77}, {'connected_gene': 'CFDP1', 'score': 13.97}, {'connected_gene': 'BCAR1', 'score': 11.77}, {'connected_gene': 'RNU6-758P', 'score': 11.73}]
chr16	GH16I075339	75339310	75344544	1.03	[{'connected_gene': 'ENSG00000261783', 'score': 28.15}, {'connected_gene': 'CFDP1', 'score': 11.44}, {'connected_gene': 'BCAR1', 'score': 5.18}, {'connected_gene': 'ENSG00000259999', 'score': 0.37}]
chr16	GH16I075326	75326198	75326988	0.2	[{'connected_gene': 'ENSG00000259999', 'score': 550.77}, {'connected_gene': 'ENSG00000261783', 'score': 22.19}, {'connected_gene': 'CFDP1', 'score': 10.21}, {'connected_gene': 'BCAR1', 'score': 5.13}]
chr16	GH16I075400	75400957	75403400	0.79	[{'connected_gene': 'ENSG00000261783', 'score': 33.75}, {'connected_gene': 'CFDP1', 'score': 10.97}, {'connected_gene': 'CHST6', 'score': 10.75}, {'connected_gene': 'GC16M075409', 'score': 0.44}, {'connected_gene': 'ENSG00000252122', 'score': 0.44}]
chr16	GH16I075456	75456813	75459232	0.64	[{'connected_gene': 'ENSG00000261476', 'score': 550.77}, {'connected_gene': 'ENSG00000261783', 'score': 26.14}, {'connected_gene': 'CFDP1', 'score': 9.42}, {'connected_gene': 'TMEM170A', 'score': 0.44}, {'connected_gene': 'ENSG00000261717', 'score': 0.44}, {'connected_gene': 'ENSG00000274220', 'score': 0.34}]
chr16	GH16I075287	75287797	75290083	1.18	[{'connected_gene': 'ENSG00000261783', 'score': 27.52}, {'connected_gene': 'CFDP1', 'score': 10.96}, {'connected_gene': 'RNU6-758P', 'score': 0.77}, {'connected_gene': 'LOC105371345', 'score': 0.44}, {'connected_gene': 'ENSG00000259999', 'score': 0.28}]
chr16	GH16I075298	75298145	75299408	0.2	[{'connected_gene': 'ENSG00000261783', 'score': 27.96}, {'connected_gene': 'CFDP1', 'score': 11.89}, {'connected_gene': 'RNU6-758P', 'score': 0.39}, {'connected_gene': 'ENSG00000259999', 'score': 0.31}]
chr16	GH16I075274	75274070	75275052	0.31	[{'connected_gene': 'ENSG00000261783', 'score': 16.65}, {'connected_gene': 'CFDP1', 'score': 11.71}, {'connected_gene': 'PIR52853', 'score': 0.77}, {'connected_gene': 'LOC105371345', 'score': 0.44}]
chr16	GH16I075415	75415603	75415752	0.31	[{'connected_gene': 'GC16M075409', 'score': 0.44}, {'connected_gene': 'ENSG00000252122', 'score': 0.44}, {'connected_gene': 'CFDP1', 'score': 0.37}, {'connected_gene': 'ENSG00000261717', 'score': 0.25}]
chr16	GH16I075345	75345743	75345892	0.2	[{'connected_gene': 'ENSG00000259999', 'score': 0.34}, {'connected_gene': 'ENSG00000261783', 'score': 0.28}, {'connected_gene': 'CFDP1', 'score': 0.17}]
chr16	GH16I075329	75329110	75330968	0.43	[{'connected_gene': 'ENSG00000261783', 'score': 28.04}, {'connected_gene': 'CFDP1', 'score': 5.66}, {'connected_gene': 'ENSG00000259999', 'score': 0.77}]
chr16	GH16I075052	75052417	75056218	1.34	[{'connected_gene': 'ENSG00000259972', 'score': 54.62}, {'connected_gene': 'RPL21P118', 'score': 50.47}, {'connected_gene': 'ENSG00000260884', 'score': 49.46}, {'connected_gene': 'ZNRF1', 'score': 17.09}, {'connected_gene': 'CFDP1', 'score': 13.45}, {'connected_gene': 'ENSG00000214331', 'score': 10.7}, {'connected_gene': 'WDR59', 'score': 10.54}, {'connected_gene': 'ENSG00000247033', 'score': 0.22}]