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
ENST00000306357	[[9153787, 9153962], [9281868, 9281970], [9395145, 9395238], [9408354, 9408479], [9448488, 9448599], [9460750, 9460845], [9471687, 9471787], [9479108, 9479553]]	[[9153894, 9153962], [9281868, 9281970], [9395145, 9395238], [9408354, 9408479], [9448488, 9448599], [9460750, 9460845], [9471687, 9471787], [9479108, 9479125]]
ENST00000575858	[[9153788, 9153962], [9281868, 9281970], [9395145, 9395238], [9408354, 9408479], [9471687, 9471787], [9479108, 9479152]]	[[9408461, 9408479], [9471687, 9471787], [9479108, 9479125]]
ENST00000574431	[[9153803, 9153962], [9281868, 9281970], [9395145, 9395238], [9408354, 9408479], [9448488, 9448599], [9460750, 9460845], [9479108, 9479154]]	[[9153894, 9153962], [9281868, 9281970], [9395145, 9395238], [9408354, 9408469]]
ENST00000575294	[[9153823, 9153962], [9281868, 9281970], [9395145, 9395238], [9471687, 9471787], [9479108, 9479128]]	[[9395199, 9395238], [9471687, 9471787], [9479108, 9479125]]
ENST00000573016	[[9408464, 9408479], [9448488, 9448599], [9460750, 9460845], [9471687, 9471787], [9479108, 9479229], [9479856, 9479908]]	[[9408464, 9408479], [9448488, 9448599], [9460750, 9460845], [9471687, 9471787], [9479108, 9479125]]
ENST00000570583	[[9153790, 9153962], [9281868, 9281970], [9341113, 9341206]]	None
ENST00000570987	[[9153803, 9153962], [9176538, 9176751]]	None
ENST00000574775	[[9281205, 9281970], [9395145, 9395182]]	None
ENST00000573881	[[9443996, 9444101], [9448488, 9448599], [9460750, 9460827]]	None
ENST00000573373	[[9456115, 9456540], [9460750, 9460845], [9471687, 9471787], [9479108, 9479137]]	None
ENST00000574382	[[9460213, 9460845], [9471687, 9471775]]	None
ENST00000573077	[[9471721, 9471787], [9472814, 9473259]]	None
NM_004853	[[9153787, 9153962], [9281868, 9281970], [9395145, 9395238], [9408354, 9408479], [9448488, 9448599], [9460750, 9460845], [9471687, 9471787], [9479108, 9479275]]	[[9153894, 9153962], [9281868, 9281970], [9395145, 9395238], [9408354, 9408479], [9448488, 9448599], [9460750, 9460845], [9471687, 9471787], [9479108, 9479125]]
NR_033656	[[9153787, 9153962], [9281868, 9281970], [9395145, 9395238], [9408354, 9408479], [9471687, 9471787], [9479108, 9479275]]	None

Promoter

Chrom	Start	End	Description
chr17	9479128	9479181	CAGE_peak_1_at_STX8_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I009574	9574800	9577433	2.01	[{'connected_gene': 'STX8', 'score': 550.77}, {'connected_gene': 'CFAP52', 'score': 550.77}, {'connected_gene': 'ENSG00000271851', 'score': 5.35}]
chr17	GH17I009423	9423844	9424682	0.2	[{'connected_gene': 'STX8', 'score': 8.64}, {'connected_gene': 'GC17P009447', 'score': 0.34}, {'connected_gene': 'GC17M009366', 'score': 0.22}]
chr17	GH17I009431	9431505	9433786	0.83	[{'connected_gene': 'STX8', 'score': 13.77}, {'connected_gene': 'GC17P009447', 'score': 0.39}, {'connected_gene': 'GC17M009366', 'score': 0.2}]
chr17	GH17I009427	9427158	9428287	0.31	[{'connected_gene': 'STX8', 'score': 6.77}, {'connected_gene': 'GC17P009447', 'score': 0.37}, {'connected_gene': 'GC17M009366', 'score': 0.21}]
chr17	GH17I009346	9346404	9346553	0.46	[{'connected_gene': 'NTN1', 'score': 9.8}, {'connected_gene': 'GC17P009324', 'score': 0.34}, {'connected_gene': 'GC17M009366', 'score': 0.34}, {'connected_gene': 'STX8', 'score': 0.07}]
chr17	GH17I009537	9537023	9537603	0.46	[{'connected_gene': 'NTN1', 'score': 9.9}, {'connected_gene': 'GC17P009539', 'score': 0.77}, {'connected_gene': 'GC17P009535', 'score': 0.77}, {'connected_gene': 'STX8', 'score': 0.28}]
chr17	GH17I009370	9370126	9372451	0.9	[{'connected_gene': 'NTN1', 'score': 9.9}, {'connected_gene': 'GC17M009366', 'score': 0.77}, {'connected_gene': 'GC17P009447', 'score': 0.18}, {'connected_gene': 'STX8', 'score': 0.08}]
chr17	GH17I008628	8628377	8632643	2.54	[{'connected_gene': 'MYH10', 'score': 550.77}, {'connected_gene': 'ENSG00000265749', 'score': 31.2}, {'connected_gene': 'CNTROB', 'score': 26.39}, {'connected_gene': 'WRAP53', 'score': 24.54}, {'connected_gene': 'PFAS', 'score': 18.38}, {'connected_gene': 'STX8', 'score': 15.43}, {'connected_gene': 'CYB5D1', 'score': 11.85}, {'connected_gene': 'CTC1', 'score': 10.08}, {'connected_gene': 'SLC25A35', 'score': 10.02}, {'connected_gene': 'VAMP2', 'score': 4.85}, {'connected_gene': 'KRBA2', 'score': 1.77}, {'connected_gene': 'GC17P008563', 'score': 0.2}]
chr17	GH17I009676	9676359	9678277	0.67	[{'connected_gene': 'USP43', 'score': 11.3}, {'connected_gene': 'STX8', 'score': 11.24}, {'connected_gene': 'CFAP52', 'score': 11.24}, {'connected_gene': 'GC17P009688', 'score': 0.39}, {'connected_gene': 'ENSG00000262296', 'score': 0.31}]
chr17	GH17I009329	9329926	9330828	0.2	[{'connected_gene': 'GC17P009324', 'score': 0.44}, {'connected_gene': 'GC17M009366', 'score': 0.28}, {'connected_gene': 'STX8', 'score': 0.07}]
chr17	GH17I009414	9414564	9414713	0.64	[{'connected_gene': 'GC17P009447', 'score': 0.29}, {'connected_gene': 'GC17M009366', 'score': 0.25}, {'connected_gene': 'STX8', 'score': 0.1}]
chr17	GH17I009471	9471375	9473151	0.51	[{'connected_gene': 'ENSG00000225751', 'score': 6.76}, {'connected_gene': 'GC17M009477', 'score': 0.44}, {'connected_gene': 'ENSG00000262815', 'score': 0.44}, {'connected_gene': 'STX8', 'score': 0.15}]
chr17	GH17I009356	9356401	9356800	0.38	[{'connected_gene': 'GC17M009366', 'score': 0.39}, {'connected_gene': 'GC17P009324', 'score': 0.29}, {'connected_gene': 'STX8', 'score': 0.08}]
chr17	GH17I009299	9298889	9299033	0.2	[{'connected_gene': 'GC17M009268', 'score': 0.44}, {'connected_gene': 'GC17P009311', 'score': 0.39}, {'connected_gene': 'ENSG00000263708', 'score': 0.37}, {'connected_gene': 'STX8', 'score': 0.06}]
chr17	GH17I009298	9298264	9298413	0.63	[{'connected_gene': 'GC17M009268', 'score': 0.44}, {'connected_gene': 'GC17P009311', 'score': 0.39}, {'connected_gene': 'ENSG00000263708', 'score': 0.37}, {'connected_gene': 'STX8', 'score': 0.06}]
chr17	GH17I009512	9512444	9512593	0.75	[{'connected_gene': 'GC17M009505', 'score': 550.77}, {'connected_gene': 'GC17P009535', 'score': 0.34}, {'connected_gene': 'STX8', 'score': 0.21}]
chr17	GH17I009348	9348426	9350753	0.84	[{'connected_gene': 'GC17M009366', 'score': 0.37}, {'connected_gene': 'GC17P009324', 'score': 0.31}, {'connected_gene': 'STX8', 'score': 0.07}]
chr17	GH17I009266	9266904	9267053	0.2	[{'connected_gene': 'GC17P009254', 'score': 0.39}, {'connected_gene': 'ENSG00000263708', 'score': 0.37}, {'connected_gene': 'STX8', 'score': 0.06}]
chr17	GH17I009513	9512600	9512800	0.74	[{'connected_gene': 'GC17M009505', 'score': 550.77}, {'connected_gene': 'GC17P009535', 'score': 0.34}, {'connected_gene': 'STX8', 'score': 0.21}]
chr17	GH17I009331	9331024	9331173	0.2	[{'connected_gene': 'GC17P009324', 'score': 0.44}, {'connected_gene': 'GC17M009366', 'score': 0.28}, {'connected_gene': 'STX8', 'score': 0.07}]
chr17	GH17I009255	9255748	9257669	1	[{'connected_gene': 'GC17P009254', 'score': 0.77}, {'connected_gene': 'ENSG00000263708', 'score': 0.31}, {'connected_gene': 'STX8', 'score': 0.06}]
chr17	GH17I009436	9436767	9436993	0.2	[{'connected_gene': 'GC17P009447', 'score': 0.39}, {'connected_gene': 'GC17M009366', 'score': 0.2}, {'connected_gene': 'STX8', 'score': 0.12}]
chr17	GH17I009455	9455494	9457659	0.64	[{'connected_gene': 'ENSG00000225751', 'score': 0.77}, {'connected_gene': 'GC17P009447', 'score': 0.44}, {'connected_gene': 'ENSG00000262815', 'score': 0.44}, {'connected_gene': 'STX8', 'score': 0.13}]
chr17	GH17I009284	9284787	9286498	0.38	[{'connected_gene': 'ENSG00000263708', 'score': 0.77}, {'connected_gene': 'GC17M009268', 'score': 0.77}, {'connected_gene': 'STX8', 'score': 0.06}]
chr17	GH17I009469	9469607	9470766	0.51	[{'connected_gene': 'ENSG00000225751', 'score': 7.42}, {'connected_gene': 'ENSG00000262815', 'score': 0.44}, {'connected_gene': 'GC17M009477', 'score': 0.39}, {'connected_gene': 'STX8', 'score': 0.14}]
chr17	GH17I009473	9473379	9474763	0.79	[{'connected_gene': 'ENSG00000225751', 'score': 6.68}, {'connected_gene': 'GC17M009477', 'score': 0.44}, {'connected_gene': 'ENSG00000262815', 'score': 0.44}, {'connected_gene': 'STX8', 'score': 0.15}]
chr17	GH17I009408	9408937	9409768	0.59	[{'connected_gene': 'GC17P009447', 'score': 0.28}, {'connected_gene': 'GC17M009366', 'score': 0.26}, {'connected_gene': 'STX8', 'score': 0.1}]
chr17	GH17I009271	9271785	9274307	0.46	[{'connected_gene': 'ENSG00000263708', 'score': 0.39}, {'connected_gene': 'GC17M009268', 'score': 0.37}, {'connected_gene': 'GC17P009254', 'score': 0.37}, {'connected_gene': 'STX8', 'score': 0.06}]
chr17	GH17I009260	9260734	9262168	0.58	[{'connected_gene': 'GC17P009254', 'score': 0.44}, {'connected_gene': 'ENSG00000263708', 'score': 0.34}, {'connected_gene': 'STX8', 'score': 0.06}]
chr17	GH17I009400	9400983	9402064	0.52	[{'connected_gene': 'GC17M009366', 'score': 0.29}, {'connected_gene': 'GC17P009447', 'score': 0.25}, {'connected_gene': 'STX8', 'score': 0.1}]
chr17	GH17I009388	9388804	9389936	0.95	[{'connected_gene': 'GC17M009366', 'score': 0.34}, {'connected_gene': 'GC17P009447', 'score': 0.22}, {'connected_gene': 'STX8', 'score': 0.09}]
chr17	GH17I009360	9360370	9361953	0.98	[{'connected_gene': 'GC17M009366', 'score': 0.44}, {'connected_gene': 'GC17P009324', 'score': 0.28}, {'connected_gene': 'STX8', 'score': 0.08}]
chr17	GH17I009289	9289808	9292896	1	[{'connected_gene': 'GC17M009268', 'score': 550.77}, {'connected_gene': 'NTN1', 'score': 10.67}, {'connected_gene': 'STX8', 'score': 4.89}, {'connected_gene': 'ENSG00000263708', 'score': 0.44}, {'connected_gene': 'GC17P009311', 'score': 0.34}]
chr17	GH17I009367	9367200	9367401	0.31	[{'connected_gene': 'GC17M009366', 'score': 550.77}, {'connected_gene': 'NTN1', 'score': 9.9}, {'connected_gene': 'GC17P009324', 'score': 0.26}, {'connected_gene': 'STX8', 'score': 0.08}]
chr17	GH17I009252	9252607	9253888	0.77	[{'connected_gene': 'GC17M009252', 'score': 550.77}, {'connected_gene': 'GC17P009254', 'score': 550.77}, {'connected_gene': 'NTN1', 'score': 10.22}, {'connected_gene': 'PIK3R5', 'score': 1.58}, {'connected_gene': 'LOC105371531', 'score': 0.77}, {'connected_gene': 'STX8', 'score': 0.05}]
chr17	GH17I009465	9465376	9465498	0.22	[{'connected_gene': 'ENSG00000262815', 'score': 550.77}, {'connected_gene': 'GAS7', 'score': 1.29}, {'connected_gene': 'ENSG00000225751', 'score': 0.39}, {'connected_gene': 'GC17M009477', 'score': 0.37}, {'connected_gene': 'STX8', 'score': 0.14}]
chr17	GH17I009306	9306864	9309793	0.7	[{'connected_gene': 'ENSG00000265749', 'score': 41.13}, {'connected_gene': 'RPL26', 'score': 13.87}, {'connected_gene': 'ENSG00000271851', 'score': 10.79}, {'connected_gene': 'GC17P009311', 'score': 0.77}, {'connected_gene': 'GC17M009268', 'score': 0.37}, {'connected_gene': 'STX8', 'score': 0.06}]
chr17	GH17I009451	9451834	9452935	0.53	[{'connected_gene': 'ENSG00000225751', 'score': 550.77}, {'connected_gene': 'CFAP52', 'score': 5.14}, {'connected_gene': 'GC17P009447', 'score': 0.44}, {'connected_gene': 'ENSG00000262815', 'score': 0.39}, {'connected_gene': 'STX8', 'score': 0.13}]
chr17	GH17I009643	9643837	9649696	2.22	[{'connected_gene': 'ENSG00000262296', 'score': 550.77}, {'connected_gene': 'ENSG00000265349', 'score': 550.77}, {'connected_gene': 'USP43', 'score': 550.77}, {'connected_gene': 'STX8', 'score': 10.63}, {'connected_gene': 'CFAP52', 'score': 10.63}]
chr17	GH17I009565	9565624	9566654	0.85	[{'connected_gene': 'ENSG00000271851', 'score': 13.63}, {'connected_gene': 'USP43', 'score': 10.53}, {'connected_gene': 'STX8', 'score': 0.39}]