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
ENST00000369603	[[112050487, 112054045], [112054985, 112055139], [112057324, 112057486], [112058405, 112058548], [112063225, 112063345], [112064505, 112064709]]	[[112053907, 112054045], [112054985, 112055139], [112057324, 112057486], [112058405, 112058548], [112063225, 112063345]]
ENST00000369592	[[112053819, 112054045], [112054985, 112055139], [112057324, 112057486], [112058405, 112058548], [112063225, 112063345], [112064150, 112064455]]	[[112053907, 112054045], [112054985, 112055139], [112057324, 112057486], [112058405, 112058548], [112063225, 112063345]]
ENST00000460483	[[112054987, 112055139], [112057324, 112057503], [112058405, 112058548], [112063225, 112063345], [112064505, 112064664]]	None
ENST00000471297	[[112057327, 112057486], [112058405, 112058568], [112060304, 112060494], [112063225, 112063345], [112064505, 112064696]]	None
ENST00000477763	[[112058434, 112058548], [112063225, 112063889]]	None
NM_005871	[[112052797, 112054045], [112054985, 112055139], [112057324, 112057486], [112058405, 112058548], [112063225, 112063345], [112064505, 112064707]]	[[112053907, 112054045], [112054985, 112055139], [112057324, 112057486], [112058405, 112058548], [112063225, 112063345]]

Promoter

Chrom	Start	End	Description
chr10	112064630	112064650	CAGE_peak_2_at_SMNDC1_5end
chr10	112064654	112064663	CAGE_peak_3_at_SMNDC1_5end
chr10	112064665	112064737	CAGE_peak_1_at_SMNDC1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I110915	110915855	110921753	2.31	[{'connected_gene': 'BBIP1', 'score': 568.21}, {'connected_gene': 'SHOC2', 'score': 550.77}, {'connected_gene': 'SMC3', 'score': 27.58}, {'connected_gene': 'SMNDC1', 'score': 21.11}, {'connected_gene': 'XPNPEP1', 'score': 19.23}, {'connected_gene': 'ENSG00000270589', 'score': 15.54}, {'connected_gene': 'ADRA2A', 'score': 5.7}, {'connected_gene': 'PDCD4', 'score': 5.64}]
chr10	GH10I110649	110649391	110650935	0.79	[{'connected_gene': 'SMC3', 'score': 56.88}, {'connected_gene': 'XPNPEP1', 'score': 22.24}, {'connected_gene': 'ADRA2A', 'score': 19.52}, {'connected_gene': 'SMNDC1', 'score': 14.39}, {'connected_gene': 'BBIP1', 'score': 10.91}, {'connected_gene': 'ENSG00000270589', 'score': 10.33}, {'connected_gene': 'RBM20', 'score': 5.05}, {'connected_gene': 'GC10P110732', 'score': 0.18}]
chr10	GH10I110566	110566002	110570525	2.1	[{'connected_gene': 'SMC3', 'score': 562.03}, {'connected_gene': 'LOC105378483', 'score': 550.77}, {'connected_gene': 'SMNDC1', 'score': 37.57}, {'connected_gene': 'XPNPEP1', 'score': 20.07}, {'connected_gene': 'ENSG00000270589', 'score': 11.29}, {'connected_gene': 'RBM20', 'score': 4.92}, {'connected_gene': 'GC10M110607', 'score': 0.28}]
chr10	GH10I110507	110507897	110509864	0.76	[{'connected_gene': 'SMC3', 'score': 13.31}, {'connected_gene': 'SMNDC1', 'score': 13.0}, {'connected_gene': 'ENSG00000270589', 'score': 11.04}, {'connected_gene': 'XPNPEP1', 'score': 10.33}, {'connected_gene': 'DUSP5', 'score': 0.39}, {'connected_gene': 'GC10P110525', 'score': 0.37}]
chr10	GH10I109956	109956783	109957032	0.78	[{'connected_gene': 'XPNPEP1', 'score': 21.36}, {'connected_gene': 'SMC3', 'score': 15.98}, {'connected_gene': 'ADD3', 'score': 15.22}, {'connected_gene': 'SMNDC1', 'score': 11.82}, {'connected_gene': 'RNU4-5P', 'score': 10.43}, {'connected_gene': 'ADD3-AS1', 'score': 0.23}]
chr10	GH10I110281	110281291	110283131	0.2	[{'connected_gene': 'MXI1', 'score': 22.07}, {'connected_gene': 'ENSG00000228417', 'score': 11.17}, {'connected_gene': 'XPNPEP1', 'score': 9.51}, {'connected_gene': 'RNU4-5P', 'score': 9.21}, {'connected_gene': 'SMNDC1', 'score': 0.34}, {'connected_gene': 'ENSG00000214067', 'score': 0.31}]
chr10	GH10I110284	110284149	110285395	0.31	[{'connected_gene': 'MXI1', 'score': 21.22}, {'connected_gene': 'ENSG00000228417', 'score': 11.16}, {'connected_gene': 'XPNPEP1', 'score': 9.51}, {'connected_gene': 'RNU4-5P', 'score': 9.21}, {'connected_gene': 'SMNDC1', 'score': 0.34}, {'connected_gene': 'ENSG00000214067', 'score': 0.31}]
chr10	GH10I110280	110279201	110279762	1.19	[{'connected_gene': 'MXI1', 'score': 16.93}, {'connected_gene': 'ENSG00000228417', 'score': 11.67}, {'connected_gene': 'DUSP5', 'score': 10.3}, {'connected_gene': 'ENSG00000214067', 'score': 0.34}, {'connected_gene': 'SMNDC1', 'score': 0.31}]
chr10	GH10I110279	110279767	110280695	0.62	[{'connected_gene': 'MXI1', 'score': 21.67}, {'connected_gene': 'ENSG00000228417', 'score': 11.67}, {'connected_gene': 'DUSP5', 'score': 10.3}, {'connected_gene': 'ENSG00000214067', 'score': 0.34}, {'connected_gene': 'SMNDC1', 'score': 0.34}]
chr10	GH10I110140	110140567	110143133	0.85	[{'connected_gene': 'MXI1', 'score': 12.38}, {'connected_gene': 'ENSG00000228417', 'score': 12.38}, {'connected_gene': 'ADD3', 'score': 12.02}, {'connected_gene': 'SMNDC1', 'score': 10.62}, {'connected_gene': 'SNRPGP12', 'score': 0.77}, {'connected_gene': 'LOC105378479', 'score': 0.31}]
chr10	GH10I110292	110292154	110292732	0.37	[{'connected_gene': 'MXI1', 'score': 5.12}, {'connected_gene': 'ADD3', 'score': 2.04}, {'connected_gene': 'SMNDC1', 'score': 0.39}, {'connected_gene': 'ENSG00000214067', 'score': 0.28}]
chr10	GH10I110220	110220642	110223407	2.2	[{'connected_gene': 'MXI1', 'score': 590.78}, {'connected_gene': 'LOC105378480', 'score': 550.77}, {'connected_gene': 'SMNDC1', 'score': 10.88}, {'connected_gene': 'BBIP1', 'score': 5.67}, {'connected_gene': 'ADD3', 'score': 5.21}, {'connected_gene': 'ENSG00000228417', 'score': 0.39}]
chr10	GH10I110225	110225130	110228001	2.21	[{'connected_gene': 'MXI1', 'score': 564.07}, {'connected_gene': 'PIR57221', 'score': 550.77}, {'connected_gene': 'SMNDC1', 'score': 10.89}, {'connected_gene': 'BBIP1', 'score': 5.68}, {'connected_gene': 'ENSG00000214067', 'score': 0.29}]
chr10	GH10I110269	110268983	110270644	1.25	[{'connected_gene': 'MXI1', 'score': 17.76}, {'connected_gene': 'ENSG00000228417', 'score': 11.66}, {'connected_gene': 'SMNDC1', 'score': 11.49}, {'connected_gene': 'BBIP1', 'score': 10.64}, {'connected_gene': 'ENSG00000214067', 'score': 0.39}]
chr10	GH10I110206	110206963	110213393	2.61	[{'connected_gene': 'MXI1', 'score': 573.03}, {'connected_gene': 'ENSG00000228417', 'score': 550.77}, {'connected_gene': 'SMNDC1', 'score': 14.26}, {'connected_gene': 'ADD3', 'score': 8.2}, {'connected_gene': 'LOC105378480', 'score': 0.39}]
chr10	GH10I110215	110213516	110213581	0.4	[{'connected_gene': 'MXI1', 'score': 11.68}, {'connected_gene': 'SMNDC1', 'score': 10.41}, {'connected_gene': 'ENSG00000228417', 'score': 0.77}, {'connected_gene': 'LOC105378480', 'score': 0.44}]
chr10	GH10I110214	110213975	110217914	1.14	[{'connected_gene': 'MXI1', 'score': 12.03}, {'connected_gene': 'SMNDC1', 'score': 10.42}, {'connected_gene': 'LOC105378480', 'score': 0.44}, {'connected_gene': 'ENSG00000228417', 'score': 0.44}]
chr10	GH10I110229	110229445	110230613	0.31	[{'connected_gene': 'MXI1', 'score': 25.92}, {'connected_gene': 'ENSG00000228417', 'score': 11.91}, {'connected_gene': 'SMNDC1', 'score': 11.28}, {'connected_gene': 'PIR57221', 'score': 0.77}, {'connected_gene': 'ENSG00000214067', 'score': 0.31}]
chr10	GH10I110265	110265517	110266136	0.72	[{'connected_gene': 'MXI1', 'score': 13.43}, {'connected_gene': 'ENSG00000214067', 'score': 0.44}, {'connected_gene': 'SMNDC1', 'score': 0.28}]
chr10	GH10I110260	110260471	110264488	0.67	[{'connected_gene': 'MXI1', 'score': 5.44}, {'connected_gene': 'ENSG00000214067', 'score': 0.44}, {'connected_gene': 'SMNDC1', 'score': 0.26}]
chr10	GH10I110268	110268603	110268712	0.51	[{'connected_gene': 'MXI1', 'score': 11.66}, {'connected_gene': 'ENSG00000228417', 'score': 11.66}, {'connected_gene': 'SMNDC1', 'score': 11.49}, {'connected_gene': 'ENSG00000214067', 'score': 0.39}]
chr10	GH10I110310	110310983	110311800	1.15	[{'connected_gene': 'MXI1', 'score': 9.5}, {'connected_gene': 'SMNDC1', 'score': 0.44}, {'connected_gene': 'GC10P110318', 'score': 0.44}]
chr10	GH10I110273	110273201	110274858	1.23	[{'connected_gene': 'MXI1', 'score': 17.26}, {'connected_gene': 'ENSG00000228417', 'score': 11.66}, {'connected_gene': 'SMNDC1', 'score': 11.51}, {'connected_gene': 'ENSG00000214067', 'score': 0.37}]
chr10	GH10I110673	110673199	110674779	0.38	[{'connected_gene': 'RBM20', 'score': 12.47}, {'connected_gene': 'ENSG00000223302', 'score': 12.46}, {'connected_gene': 'SMNDC1', 'score': 10.5}, {'connected_gene': 'PDCD4', 'score': 9.85}, {'connected_gene': 'ENSG00000232470', 'score': 9.85}, {'connected_gene': 'GC10P110732', 'score': 0.22}]
chr10	GH10I110679	110679339	110681401	1.11	[{'connected_gene': 'RBM20', 'score': 12.44}, {'connected_gene': 'ENSG00000223302', 'score': 12.44}, {'connected_gene': 'SMNDC1', 'score': 10.49}, {'connected_gene': 'ENSG00000232470', 'score': 9.78}, {'connected_gene': 'PDCD4', 'score': 9.78}, {'connected_gene': 'GC10P110732', 'score': 0.23}]
chr10	GH10I110671	110671683	110673000	1.56	[{'connected_gene': 'RBM20', 'score': 12.7}, {'connected_gene': 'ENSG00000223302', 'score': 12.7}, {'connected_gene': 'SMNDC1', 'score': 10.17}, {'connected_gene': 'PDCD4', 'score': 1.51}, {'connected_gene': 'GC10P110732', 'score': 0.22}]
chr10	GH10I110674	110674799	110676618	0.43	[{'connected_gene': 'RBM20', 'score': 12.46}, {'connected_gene': 'ENSG00000223302', 'score': 12.46}, {'connected_gene': 'SMNDC1', 'score': 10.5}, {'connected_gene': 'ENSG00000232470', 'score': 9.78}, {'connected_gene': 'PDCD4', 'score': 9.78}, {'connected_gene': 'GC10P110732', 'score': 0.22}]
chr10	GH10I110669	110669010	110670003	0.46	[{'connected_gene': 'RBM20', 'score': 12.7}, {'connected_gene': 'ENSG00000223302', 'score': 12.7}, {'connected_gene': 'SMNDC1', 'score': 10.17}, {'connected_gene': 'GC10P110732', 'score': 0.21}]
chr10	GH10I110670	110670924	110671342	0.38	[{'connected_gene': 'RBM20', 'score': 12.7}, {'connected_gene': 'ENSG00000223302', 'score': 12.7}, {'connected_gene': 'SMNDC1', 'score': 10.17}, {'connected_gene': 'GC10P110732', 'score': 0.21}]
chr10	GH10I110672	110670134	110670865	0.43	[{'connected_gene': 'RBM20', 'score': 12.7}, {'connected_gene': 'ENSG00000223302', 'score': 12.7}, {'connected_gene': 'SMNDC1', 'score': 10.17}, {'connected_gene': 'GC10P110732', 'score': 0.21}]
chr10	GH10I110666	110666913	110668881	1.01	[{'connected_gene': 'RBM20', 'score': 12.73}, {'connected_gene': 'ENSG00000223302', 'score': 12.7}, {'connected_gene': 'SMNDC1', 'score': 10.17}, {'connected_gene': 'GC10P110732', 'score': 0.21}]
chr10	GH10I110406	110406813	110416630	1.69	[{'connected_gene': 'DUSP5', 'score': 15.69}, {'connected_gene': 'SMNDC1', 'score': 10.81}, {'connected_gene': 'SMC3', 'score': 1.33}, {'connected_gene': 'HMGB3P5', 'score': 0.28}, {'connected_gene': 'GC10P110318', 'score': 0.16}]
chr10	GH10I110404	110404237	110406617	0.77	[{'connected_gene': 'DUSP5', 'score': 11.89}, {'connected_gene': 'SMNDC1', 'score': 10.81}, {'connected_gene': 'HMGB3P5', 'score': 0.25}, {'connected_gene': 'GC10P110318', 'score': 0.17}]
chr10	GH10I110362	110362163	110362312	0.31	[{'connected_gene': 'DUSP5', 'score': 11.37}, {'connected_gene': 'SMNDC1', 'score': 10.45}, {'connected_gene': 'GC10P110318', 'score': 0.26}, {'connected_gene': 'HMGB3P5', 'score': 0.17}]
chr10	GH10I110363	110363673	110365230	1.1	[{'connected_gene': 'DUSP5', 'score': 11.36}, {'connected_gene': 'SMNDC1', 'score': 10.45}, {'connected_gene': 'MXI1', 'score': 1.24}, {'connected_gene': 'GC10P110318', 'score': 0.25}, {'connected_gene': 'HMGB3P5', 'score': 0.17}]
chr10	GH10I110349	110349696	110351197	0.31	[{'connected_gene': 'DUSP5', 'score': 11.4}, {'connected_gene': 'SMNDC1', 'score': 11.27}, {'connected_gene': 'MXI1', 'score': 7.8}, {'connected_gene': 'GC10P110318', 'score': 0.29}, {'connected_gene': 'HMGB3P5', 'score': 0.15}]
chr10	GH10I110352	110352494	110359669	1.63	[{'connected_gene': 'DUSP5', 'score': 14.89}, {'connected_gene': 'SMNDC1', 'score': 11.15}, {'connected_gene': 'MXI1', 'score': 8.75}, {'connected_gene': 'GC10P110318', 'score': 0.28}, {'connected_gene': 'HMGB3P5', 'score': 0.16}]
chr10	GH10I110322	110322416	110328128	1.38	[{'connected_gene': 'DUSP5', 'score': 15.1}, {'connected_gene': 'SMNDC1', 'score': 11.31}, {'connected_gene': 'MXI1', 'score': 7.88}, {'connected_gene': 'GC10P110318', 'score': 0.44}, {'connected_gene': 'HMGB3P5', 'score': 0.13}]
chr10	GH10I110544	110544790	110545642	0.46	[{'connected_gene': 'DUSP5', 'score': 16.5}, {'connected_gene': 'SMNDC1', 'score': 11.31}, {'connected_gene': 'GC10M110551', 'score': 0.44}, {'connected_gene': 'GC10P110525', 'score': 0.34}]
chr10	GH10I110547	110547200	110547600	1.09	[{'connected_gene': 'DUSP5', 'score': 16.6}, {'connected_gene': 'SMNDC1', 'score': 11.86}, {'connected_gene': 'GC10M110551', 'score': 0.77}, {'connected_gene': 'GC10P110525', 'score': 0.34}]
chr10	GH10I111076	111076183	111078198	1.89	[{'connected_gene': 'ADRA2A', 'score': 554.99}, {'connected_gene': 'PIR58551', 'score': 550.77}, {'connected_gene': 'GC10P111079', 'score': 550.77}, {'connected_gene': 'PIR36818', 'score': 550.77}, {'connected_gene': 'SMC3', 'score': 23.18}, {'connected_gene': 'SMNDC1', 'score': 15.39}, {'connected_gene': 'BBIP1', 'score': 10.95}]
chr10	GH10I110079	110079770	110084781	1.56	[{'connected_gene': 'ADD3', 'score': 13.79}, {'connected_gene': 'MXI1', 'score': 5.95}, {'connected_gene': 'SMNDC1', 'score': 3.29}, {'connected_gene': 'SNRPGP12', 'score': 0.22}, {'connected_gene': 'GC10M110016', 'score': 0.2}, {'connected_gene': 'GC10M110015', 'score': 0.2}]
chr10	GH10I110073	110073712	110079399	1.63	[{'connected_gene': 'ADD3', 'score': 13.16}, {'connected_gene': 'MXI1', 'score': 10.96}, {'connected_gene': 'SMNDC1', 'score': 3.94}, {'connected_gene': 'SNRPGP12', 'score': 0.21}, {'connected_gene': 'GC10M110016', 'score': 0.21}, {'connected_gene': 'GC10M110015', 'score': 0.21}]
chr10	GH10I110129	110129454	110130785	0.31	[{'connected_gene': 'ADD3', 'score': 12.12}, {'connected_gene': 'SMNDC1', 'score': 10.68}, {'connected_gene': 'XPNPEP1', 'score': 9.91}, {'connected_gene': 'RNU4-5P', 'score': 9.27}, {'connected_gene': 'SNRPGP12', 'score': 0.44}, {'connected_gene': 'GC10M110016', 'score': 0.14}, {'connected_gene': 'GC10M110015', 'score': 0.14}]
chr10	GH10I110651	110651163	110652045	1.14	[{'connected_gene': 'SMNDC1', 'score': 15.42}, {'connected_gene': 'SMC3', 'score': 13.46}, {'connected_gene': 'RBM20', 'score': 5.06}, {'connected_gene': 'GC10P110732', 'score': 0.18}]
chr10	GH10I110416	110416806	110418042	0.96	[{'connected_gene': 'SMNDC1', 'score': 12.97}, {'connected_gene': 'XPNPEP1', 'score': 12.05}, {'connected_gene': 'SMC3', 'score': 11.49}, {'connected_gene': 'PDCD4-AS1', 'score': 10.41}, {'connected_gene': 'HMGB3P5', 'score': 0.29}, {'connected_gene': 'GC10P110318', 'score': 0.15}]
chr10	GH10I110664	110664715	110665772	1.35	[{'connected_gene': 'SMNDC1', 'score': 24.04}, {'connected_gene': 'XPNPEP1', 'score': 21.8}, {'connected_gene': 'SMC3', 'score': 17.06}, {'connected_gene': 'RBM20', 'score': 12.73}, {'connected_gene': 'ENSG00000223302', 'score': 12.73}, {'connected_gene': 'ADRA2A', 'score': 11.41}, {'connected_gene': 'ENSG00000270589', 'score': 10.33}, {'connected_gene': 'GC10P110732', 'score': 0.2}]
chr10	GH10I110275	110275283	110275432	0.74	[{'connected_gene': 'SMNDC1', 'score': 11.74}, {'connected_gene': 'MXI1', 'score': 11.68}, {'connected_gene': 'ENSG00000228417', 'score': 11.68}, {'connected_gene': 'DUSP5', 'score': 10.3}, {'connected_gene': 'ENSG00000214067', 'score': 0.37}]
chr10	GH10I110203	110203136	110204854	0.69	[{'connected_gene': 'SMNDC1', 'score': 10.44}, {'connected_gene': 'MXI1', 'score': 5.97}, {'connected_gene': 'ADD3', 'score': 5.41}, {'connected_gene': 'LOC105378479', 'score': 0.28}]
chr10	GH10I110218	110218290	110219132	0.2	[{'connected_gene': 'SMNDC1', 'score': 10.42}, {'connected_gene': 'MXI1', 'score': 5.49}, {'connected_gene': 'LOC105378480', 'score': 0.77}, {'connected_gene': 'ENSG00000228417', 'score': 0.39}]
chr10	GH10I110213	110213601	110213800	0.51	[{'connected_gene': 'SMNDC1', 'score': 10.41}, {'connected_gene': 'MXI1', 'score': 0.44}, {'connected_gene': 'LOC105378480', 'score': 0.44}, {'connected_gene': 'ENSG00000228417', 'score': 0.44}]
chr10	GH10I110241	110241324	110242251	0.43	[{'connected_gene': 'SMNDC1', 'score': 10.79}, {'connected_gene': 'MXI1', 'score': 5.47}, {'connected_gene': 'ENSG00000214067', 'score': 0.37}, {'connected_gene': 'PIR57221', 'score': 0.37}]
chr10	GH10I110303	110303177	110306715	2.01	[{'connected_gene': 'SMNDC1', 'score': 550.77}, {'connected_gene': 'MXI1', 'score': 10.17}, {'connected_gene': 'ENSG00000214067', 'score': 0.25}]
chr10	GH10I110600	110600603	110600752	0.62	[{'connected_gene': 'SMNDC1', 'score': 11.51}, {'connected_gene': 'RBM20', 'score': 11.35}, {'connected_gene': 'ENSG00000223302', 'score': 11.35}, {'connected_gene': 'GC10M110607', 'score': 0.44}, {'connected_gene': 'SMC3', 'score': 0.29}]
chr10	GH10I110219	110219963	110220409	0.52	[{'connected_gene': 'SMNDC1', 'score': 10.43}, {'connected_gene': 'ADD3', 'score': 4.24}, {'connected_gene': 'LOC105378480', 'score': 0.77}, {'connected_gene': 'MXI1', 'score': 0.39}, {'connected_gene': 'ENSG00000228417', 'score': 0.39}]
chr10	GH10I110482	110482043	110482192	0.54	[{'connected_gene': 'SMNDC1', 'score': 10.26}, {'connected_gene': 'GC10P110473', 'score': 0.44}, {'connected_gene': 'ENSG00000273143', 'score': 0.39}, {'connected_gene': 'LOC105378481', 'score': 0.39}]
chr10	GH10I110486	110486426	110489344	1.21	[{'connected_gene': 'SMNDC1', 'score': 10.25}, {'connected_gene': 'ENSG00000273143', 'score': 0.44}, {'connected_gene': 'LOC105378481', 'score': 0.44}, {'connected_gene': 'GC10P110473', 'score': 0.39}]
chr10	GH10I110312	110312343	110312492	0.4	[{'connected_gene': 'SMNDC1', 'score': 0.44}, {'connected_gene': 'GC10P110318', 'score': 0.44}]
chr10	GH10I110231	110231596	110234555	0.38	[{'connected_gene': 'ENSG00000228417', 'score': 11.91}, {'connected_gene': 'MXI1', 'score': 11.89}, {'connected_gene': 'SMNDC1', 'score': 11.28}, {'connected_gene': 'ADD3', 'score': 4.03}, {'connected_gene': 'PIR57221', 'score': 0.44}, {'connected_gene': 'ENSG00000214067', 'score': 0.34}]