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
ENST00000373791	[[29519384, 29520691], [29522452, 29522525], [29522709, 29522770], [29527027, 29527101], [29528454, 29528557], [29529642, 29529745], [29533273, 29533417], [29542516, 29542648], [29543099, 29543324], [29557242, 29557436]]	[[29520533, 29520691], [29522452, 29522525], [29522709, 29522770], [29527027, 29527101], [29528454, 29528557], [29529642, 29529745], [29533273, 29533417], [29542516, 29542648], [29543099, 29543145]]
ENST00000475773	[[29520322, 29520691], [29522452, 29522554], [29522709, 29522770], [29527027, 29527101], [29528454, 29528557], [29529642, 29529713]]	None
ENST00000483435	[[29520328, 29520691], [29522452, 29522525], [29522709, 29522770], [29527027, 29527101]]	None
ENST00000263702	[[29520328, 29520691], [29522452, 29522525], [29522709, 29522770], [29527027, 29527101], [29528454, 29528557], [29529642, 29529745], [29533273, 29533417], [29542516, 29542648], [29543099, 29543197], [29557242, 29557444]]	[[29520533, 29520691], [29522452, 29522525], [29522709, 29522770], [29527027, 29527101], [29528454, 29528557], [29529642, 29529745], [29533273, 29533417], [29542516, 29542648], [29543099, 29543197], [29557242, 29557418]]
ENST00000473030	[[29520385, 29520691], [29522452, 29522525], [29522709, 29522770], [29527027, 29527101], [29528454, 29528557], [29533273, 29533417], [29542516, 29542648], [29543099, 29543125]]	None
ENST00000463412	[[29520543, 29520691], [29522452, 29522770], [29527027, 29527101], [29528454, 29528557], [29529642, 29529745], [29533273, 29533417], [29542516, 29542541]]	[[29522580, 29522770], [29527027, 29527101], [29528454, 29528557], [29529642, 29529745], [29533273, 29533417], [29542516, 29542541]]
ENST00000453185	[[29522455, 29522525], [29522709, 29522770], [29527027, 29527101], [29527885, 29528030], [29528454, 29528557], [29529642, 29529745], [29533273, 29533340]]	None
ENST00000478505	[[29522458, 29522525], [29522709, 29522770], [29527027, 29527101], [29528454, 29528557], [29529642, 29529745], [29533273, 29533417], [29542516, 29542648], [29543099, 29543197], [29547349, 29547424]]	None
ENST00000490529	[[29522653, 29522770], [29527027, 29527101], [29528454, 29528557], [29533273, 29533417], [29542516, 29542648], [29543099, 29543197], [29557242, 29557406]]	None
ENST00000464511	[[29526835, 29527101], [29528454, 29528557], [29529642, 29529682]]	None
ENST00000463052	[[29528528, 29528557], [29533273, 29533417], [29542516, 29542648], [29543099, 29543324], [29547349, 29547433], [29549651, 29549772], [29557242, 29557413]]	None
ENST00000489248	[[29529653, 29529745], [29533273, 29533417], [29542516, 29542648], [29543099, 29543197], [29547228, 29547433], [29549651, 29549772], [29557242, 29557418]]	None
ENST00000475861	[[29529727, 29529745], [29533273, 29533417], [29542516, 29542648], [29543099, 29543324], [29547349, 29547433], [29557242, 29557409]]	None
ENST00000474946	[[29533285, 29533417], [29542516, 29542648], [29543099, 29543197], [29547349, 29547433], [29557242, 29557427]]	None
ENST00000464915	[[29542548, 29542648], [29543099, 29543197], [29547349, 29547433], [29549651, 29550061]]	None
ENST00000482610	[[29542604, 29542648], [29543099, 29543324], [29547345, 29547433], [29556866, 29556918], [29557242, 29557403]]	None
ENST00000484012	[[29543112, 29543324], [29555392, 29555566], [29557242, 29557454]]	None
ENST00000493928	[[29547394, 29547433], [29547586, 29547712], [29549651, 29549772], [29557242, 29557454]]	None
NM_001024732	[[29519168, 29520691], [29522452, 29522525], [29522709, 29522770], [29527027, 29527101], [29528454, 29528557], [29529642, 29529745], [29533273, 29533417], [29542516, 29542648], [29543099, 29543324], [29557242, 29557470]]	[[29520533, 29520691], [29522452, 29522525], [29522709, 29522770], [29527027, 29527101], [29528454, 29528557], [29529642, 29529745], [29533273, 29533417], [29542516, 29542648], [29543099, 29543145]]
NM_016011	[[29519168, 29520691], [29522452, 29522525], [29522709, 29522770], [29527027, 29527101], [29528454, 29528557], [29529642, 29529745], [29533273, 29533417], [29542516, 29542648], [29543099, 29543197], [29557242, 29557470]]	[[29520533, 29520691], [29522452, 29522525], [29522709, 29522770], [29527027, 29527101], [29528454, 29528557], [29529642, 29529745], [29533273, 29533417], [29542516, 29542648], [29543099, 29543197], [29557242, 29557418]]

Promoter

Chrom	Start	End	Description
chr1	29557366	29557377	CAGE_peak_2_at_MECR_5end
chr1	29557383	29557469	CAGE_peak_1_at_MECR_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I029201	29201181	29203598	1.23	[{'connected_gene': 'SRSF4', 'score': 44.61}, {'connected_gene': 'GMEB1', 'score': 29.94}, {'connected_gene': 'TRNAU1AP', 'score': 28.59}, {'connected_gene': 'SNHG12', 'score': 27.15}, {'connected_gene': 'MECR', 'score': 20.69}, {'connected_gene': 'YTHDF2', 'score': 20.36}, {'connected_gene': 'TMEM200B', 'score': 18.58}, {'connected_gene': 'TAF12', 'score': 13.34}, {'connected_gene': 'ENSG00000237934', 'score': 11.75}]
chr1	GH01I029178	29178698	29183553	2.32	[{'connected_gene': 'SRSF4', 'score': 583.93}, {'connected_gene': 'GMEB1', 'score': 28.44}, {'connected_gene': 'YTHDF2', 'score': 24.11}, {'connected_gene': 'SNHG12', 'score': 22.48}, {'connected_gene': 'TRNAU1AP', 'score': 20.25}, {'connected_gene': 'RCC1', 'score': 18.24}, {'connected_gene': 'SNORA73B', 'score': 12.88}, {'connected_gene': 'SNHG3', 'score': 12.43}, {'connected_gene': 'DNAJC8', 'score': 10.3}, {'connected_gene': 'ENSG00000237934', 'score': 10.21}, {'connected_gene': 'MECR', 'score': 9.23}, {'connected_gene': 'EPB41', 'score': 6.14}, {'connected_gene': 'ENSG00000277916', 'score': 0.44}]
chr1	GH01I029185	29185796	29187758	1.02	[{'connected_gene': 'MECR', 'score': 19.98}, {'connected_gene': 'SRSF4', 'score': 0.77}, {'connected_gene': 'ENSG00000237934', 'score': 0.28}]
chr1	GH01I029155	29155534	29158768	1.2	[{'connected_gene': 'MECR', 'score': 4.32}, {'connected_gene': 'ENSG00000225750', 'score': 0.39}, {'connected_gene': 'ENSG00000277916', 'score': 0.39}, {'connected_gene': 'SRSF4', 'score': 0.34}]
chr1	GH01I029208	29208549	29208698	0.74	[{'connected_gene': 'MECR', 'score': 11.03}, {'connected_gene': 'ENSG00000233427', 'score': 10.64}, {'connected_gene': 'SRSF4', 'score': 10.64}, {'connected_gene': 'ENSG00000237934', 'score': 0.37}]
chr1	GH01I029196	29196022	29198314	0.67	[{'connected_gene': 'MECR', 'score': 19.24}, {'connected_gene': 'ENSG00000237934', 'score': 10.97}, {'connected_gene': 'TMEM200B', 'score': 10.91}, {'connected_gene': 'ENSG00000233427', 'score': 10.05}, {'connected_gene': 'SRSF4', 'score': 0.37}]
chr1	GH01I029117	29117093	29117502	0.56	[{'connected_gene': 'MECR', 'score': 7.48}, {'connected_gene': 'PIR34079', 'score': 0.39}, {'connected_gene': 'GC01M029107', 'score': 0.37}, {'connected_gene': 'GC01P029082', 'score': 0.29}, {'connected_gene': 'EPB41', 'score': 0.07}]
chr1	GH01I028901	28901864	28903124	0.88	[{'connected_gene': 'MECR', 'score': 7.34}, {'connected_gene': 'GC01M028891', 'score': 0.39}, {'connected_gene': 'EPB41', 'score': 0.37}]
chr1	GH01I028898	28898201	28899000	0.8	[{'connected_gene': 'MECR', 'score': 6.76}, {'connected_gene': 'GC01M028891', 'score': 0.39}, {'connected_gene': 'EPB41', 'score': 0.39}]
chr1	GH01I029229	29229825	29231550	2.06	[{'connected_gene': 'MECR', 'score': 555.13}, {'connected_gene': 'GMEB1', 'score': 18.14}, {'connected_gene': 'SRSF4', 'score': 15.96}, {'connected_gene': 'YTHDF2', 'score': 15.62}, {'connected_gene': 'RCC1', 'score': 12.04}, {'connected_gene': 'TRNAU1AP', 'score': 11.57}, {'connected_gene': 'SNHG12', 'score': 10.2}, {'connected_gene': 'TMEM200B', 'score': 5.48}, {'connected_gene': 'ENSG00000237934', 'score': 0.44}]
chr1	GH01I029247	29247968	29251003	0.92	[{'connected_gene': 'MECR', 'score': 9.26}, {'connected_gene': 'PTPRU', 'score': 6.65}, {'connected_gene': 'EPB41', 'score': 4.59}, {'connected_gene': 'LINC01756', 'score': 0.15}]
chr1	GH01I029260	29259629	29259778	0.59	[{'connected_gene': 'MECR', 'score': 5.67}, {'connected_gene': 'PTPRU', 'score': 0.34}, {'connected_gene': 'LINC01756', 'score': 0.16}]
chr1	GH01I029163	29163914	29167495	0.83	[{'connected_gene': 'TMEM200B', 'score': 19.5}, {'connected_gene': 'MECR', 'score': 14.78}, {'connected_gene': 'ENSG00000233427', 'score': 10.27}, {'connected_gene': 'ENSG00000237934', 'score': 9.78}, {'connected_gene': 'SRSF4', 'score': 4.47}, {'connected_gene': 'ENSG00000277916', 'score': 0.44}, {'connected_gene': 'ENSG00000225750', 'score': 0.37}]
chr1	GH01I029148	29148576	29149557	0.59	[{'connected_gene': 'TMEM200B', 'score': 7.6}, {'connected_gene': 'MECR', 'score': 5.31}, {'connected_gene': 'ENSG00000225750', 'score': 0.77}, {'connected_gene': 'ENSG00000277916', 'score': 0.34}, {'connected_gene': 'SRSF4', 'score': 0.29}]
chr1	GH01I029121	29121269	29126153	2.45	[{'connected_gene': 'TMEM200B', 'score': 559.42}, {'connected_gene': 'MECR', 'score': 8.3}, {'connected_gene': 'EPB41', 'score': 5.28}, {'connected_gene': 'PIR34079', 'score': 0.44}, {'connected_gene': 'GC01M029107', 'score': 0.39}, {'connected_gene': 'GC01P029082', 'score': 0.26}]
chr1	GH01I029176	29176505	29177293	0.69	[{'connected_gene': 'TMEM200B', 'score': 8.23}, {'connected_gene': 'EPB41', 'score': 7.0}, {'connected_gene': 'ENSG00000277916', 'score': 0.44}, {'connected_gene': 'SRSF4', 'score': 0.44}, {'connected_gene': 'MECR', 'score': 0.23}]
chr1	GH01I029177	29177400	29177898	1.38	[{'connected_gene': 'EPB41', 'score': 3.56}, {'connected_gene': 'SRSF4', 'score': 2.1}, {'connected_gene': 'YTHDF2', 'score': 1.6}, {'connected_gene': 'ENSG00000277916', 'score': 0.44}, {'connected_gene': 'MECR', 'score': 0.23}]
chr1	GH01I029160	29160421	29162979	0.54	[{'connected_gene': 'EPB41', 'score': 7.0}, {'connected_gene': 'MECR', 'score': 5.15}, {'connected_gene': 'ENSG00000277916', 'score': 0.44}, {'connected_gene': 'ENSG00000225750', 'score': 0.39}, {'connected_gene': 'SRSF4', 'score': 0.34}]
chr1	GH01I029118	29118583	29119354	0.2	[{'connected_gene': 'EPB41', 'score': 10.14}, {'connected_gene': 'MECR', 'score': 5.92}, {'connected_gene': 'PIR34079', 'score': 0.44}, {'connected_gene': 'GC01M029107', 'score': 0.37}, {'connected_gene': 'GC01P029082', 'score': 0.28}]
chr1	GH01I029226	29226759	29228152	0.52	[{'connected_gene': 'EPB41', 'score': 7.08}, {'connected_gene': 'MECR', 'score': 5.76}, {'connected_gene': 'ENSG00000237934', 'score': 0.77}]
chr1	GH01I028925	28925282	28931370	1.68	[{'connected_gene': 'GMEB1', 'score': 14.23}, {'connected_gene': 'SRSF4', 'score': 11.0}, {'connected_gene': 'ENSG00000233427', 'score': 10.79}, {'connected_gene': 'EPB41', 'score': 9.2}, {'connected_gene': 'MECR', 'score': 8.48}, {'connected_gene': 'PTPRU', 'score': 4.98}, {'connected_gene': 'GC01M028891', 'score': 0.39}, {'connected_gene': 'RPL27P4', 'score': 0.23}]
chr1	GH01I029236	29236185	29241243	2.33	[{'connected_gene': 'PTPRU', 'score': 558.7}, {'connected_gene': 'SRSF4', 'score': 91.78}, {'connected_gene': 'GMEB1', 'score': 77.25}, {'connected_gene': 'TRNAU1AP', 'score': 66.23}, {'connected_gene': 'YTHDF2', 'score': 63.29}, {'connected_gene': 'SNHG12', 'score': 61.57}, {'connected_gene': 'PHACTR4', 'score': 55.74}, {'connected_gene': 'TMEM200B', 'score': 55.43}, {'connected_gene': 'RCC1', 'score': 29.13}, {'connected_gene': 'ENSG00000237934', 'score': 24.06}, {'connected_gene': 'SNORA73B', 'score': 18.87}, {'connected_gene': 'RAB42', 'score': 10.55}, {'connected_gene': 'SNHG3', 'score': 10.3}, {'connected_gene': 'MECR', 'score': 4.62}, {'connected_gene': 'LINC01756', 'score': 0.14}]
chr1	GH01I029271	29271289	29272631	0.97	[{'connected_gene': 'PTPRU', 'score': 12.11}, {'connected_gene': 'MECR', 'score': 12.09}, {'connected_gene': 'ENSG00000237934', 'score': 10.81}, {'connected_gene': 'TMEM200B', 'score': 7.38}, {'connected_gene': 'LINC01756', 'score': 0.18}]
chr1	GH01I029269	29269288	29270411	0.2	[{'connected_gene': 'PTPRU', 'score': 18.25}, {'connected_gene': 'MECR', 'score': 12.11}, {'connected_gene': 'ENSG00000237934', 'score': 10.81}, {'connected_gene': 'LINC01756', 'score': 0.18}]
chr1	GH01I029190	29190762	29191362	0.56	[{'connected_gene': 'ENSG00000237934', 'score': 10.63}, {'connected_gene': 'MECR', 'score': 10.61}, {'connected_gene': 'SRSF4', 'score': 0.44}]
chr1	GH01I029191	29191409	29191558	0.46	[{'connected_gene': 'ENSG00000237934', 'score': 10.63}, {'connected_gene': 'MECR', 'score': 10.61}, {'connected_gene': 'SRSF4', 'score': 0.44}]
chr1	GH01I029170	29170401	29170600	0.4	[{'connected_gene': 'ENSG00000277916', 'score': 550.77}, {'connected_gene': 'MECR', 'score': 14.72}, {'connected_gene': 'TMEM200B', 'score': 11.35}, {'connected_gene': 'ENSG00000237934', 'score': 10.62}, {'connected_gene': 'SRSF4', 'score': 0.39}, {'connected_gene': 'ENSG00000225750', 'score': 0.34}]
chr1	GH01I029171	29170746	29172252	0.72	[{'connected_gene': 'ENSG00000277916', 'score': 550.77}, {'connected_gene': 'MECR', 'score': 14.17}, {'connected_gene': 'TMEM200B', 'score': 11.35}, {'connected_gene': 'ENSG00000237934', 'score': 10.06}, {'connected_gene': 'PTPRU', 'score': 5.23}, {'connected_gene': 'PHACTR4', 'score': 4.2}, {'connected_gene': 'SRSF4', 'score': 0.39}]
chr1	GH01I029144	29144989	29148279	1.13	[{'connected_gene': 'ENSG00000225750', 'score': 550.77}, {'connected_gene': 'GC01P029145', 'score': 550.77}, {'connected_gene': 'TMEM200B', 'score': 7.57}, {'connected_gene': 'MECR', 'score': 5.31}, {'connected_gene': 'PTPRU', 'score': 4.73}, {'connected_gene': 'SRSF4', 'score': 4.37}]
chr1	GH01I028971	28971886	28974752	1	[{'connected_gene': 'ENSG00000233427', 'score': 10.84}, {'connected_gene': 'DNAJC8', 'score': 9.95}, {'connected_gene': 'MECR', 'score': 8.89}, {'connected_gene': 'PTPRU', 'score': 4.98}, {'connected_gene': 'RPL27P4', 'score': 0.44}, {'connected_gene': 'GC01M028891', 'score': 0.22}, {'connected_gene': 'EPB41', 'score': 0.17}]
chr1	GH01I028913	28913512	28916003	2.19	[{'connected_gene': 'GC01M028891', 'score': 550.77}, {'connected_gene': 'EPB41', 'score': 550.31}, {'connected_gene': 'SRSF4', 'score': 18.17}, {'connected_gene': 'SNHG12', 'score': 17.86}, {'connected_gene': 'TRNAU1AP', 'score': 15.43}, {'connected_gene': 'PHACTR4', 'score': 11.15}, {'connected_gene': 'YTHDF2', 'score': 10.63}, {'connected_gene': 'TMEM200B', 'score': 9.9}, {'connected_gene': 'MECR', 'score': 9.46}, {'connected_gene': 'RPL27P4', 'score': 0.2}]