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
ENST00000553143	[[106695706, 106695771], [106704818, 106704906]]	[[106704853, 106704906]]
ENST00000547153	[[106696580, 106696719], [106704818, 106705010], [106708135, 106708271], [106712121, 106712242], [106715263, 106715484], [106717287, 106717424], [106723107, 106723949]]	[[106704853, 106705010], [106708135, 106708271], [106712121, 106712242], [106715263, 106715484], [106717287, 106717424], [106723107, 106723136]]
ENST00000299045	[[106696580, 106696719], [106704818, 106705010], [106708135, 106708271], [106712121, 106712242], [106715263, 106715484], [106717287, 106717424], [106729416, 106729604], [106729809, 106729991], [106734603, 106734776], [106740063, 106740793]]	[[106704853, 106705010], [106708135, 106708271], [106712121, 106712242], [106715263, 106715484], [106717287, 106717424], [106729416, 106729604], [106729809, 106729991], [106734603, 106734776], [106740063, 106740308]]
ENST00000546625	[[106696595, 106696719], [106704818, 106705010], [106708135, 106708271], [106712121, 106712242], [106715263, 106715484], [106717287, 106719691]]	[[106704853, 106705010], [106708135, 106708271], [106712121, 106712242], [106715263, 106715484], [106717287, 106717471]]
ENST00000553098	[[106696610, 106696719], [106697870, 106698009], [106704818, 106705010], [106708135, 106708271], [106712121, 106712242], [106715263, 106715484], [106717287, 106717354]]	[[106704853, 106705010], [106708135, 106708271], [106712121, 106712242], [106715263, 106715484], [106717287, 106717354]]
ENST00000549906	[[106696630, 106696719], [106704818, 106705010], [106706070, 106706212], [106708135, 106708246]]	[[106704853, 106705010], [106706070, 106706096]]
ENST00000551802	[[106696837, 106697032], [106704818, 106705010], [106708135, 106708271], [106712121, 106712223]]	[[106704853, 106705010], [106708135, 106708271], [106712121, 106712223]]
ENST00000548428	[[106697270, 106698009], [106704818, 106705010], [106708135, 106708271]]	[[106704853, 106705010], [106708135, 106708271]]
ENST00000551228	[[106697642, 106698009], [106701059, 106701148], [106704818, 106704906]]	[[106704853, 106704906]]
ENST00000552690	[[106715351, 106715484], [106717287, 106717424], [106717715, 106717834]]	None
NM_001286262	[[106696568, 106696719], [106704818, 106705010], [106708135, 106708271], [106712121, 106712242], [106715263, 106715484], [106717287, 106717424], [106723107, 106723649]]	[[106704853, 106705010], [106708135, 106708271], [106712121, 106712242], [106715263, 106715484], [106717287, 106717424], [106723107, 106723136]]
NM_152772	[[106696568, 106696719], [106704818, 106705010], [106708135, 106708271], [106712121, 106712242], [106715263, 106715484], [106717287, 106717424], [106729416, 106729604], [106729809, 106729991], [106734603, 106734776], [106740063, 106740793]]	[[106704853, 106705010], [106708135, 106708271], [106712121, 106712242], [106715263, 106715484], [106717287, 106717424], [106729416, 106729604], [106729809, 106729991], [106734603, 106734776], [106740063, 106740308]]

Promoter

Chrom	Start	End	Description
chr12	106696384	106696405	CAGE_peak_3_at_TCP11L2_5end
chr12	106696503	106696557	CAGE_peak_2_at_TCP11L2_5end
chr12	106696583	106696651	CAGE_peak_1_at_TCP11L2_5end
chr12	106696652	106696665	CAGE_peak_4_at_TCP11L2_5end
chr12	106696674	106696685	CAGE_peak_6_at_TCP11L2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I106518	106518972	106520331	0.43	[{'connected_gene': 'RFX4', 'score': 10.62}, {'connected_gene': 'TCP11L2', 'score': 5.79}, {'connected_gene': 'GC12P106517', 'score': 0.77}, {'connected_gene': 'LOC100287944', 'score': 0.07}]
chr12	GH12I106315	106315987	106318083	0.31	[{'connected_gene': 'POLR3B', 'score': 10.96}, {'connected_gene': 'TCP11L2', 'score': 7.87}, {'connected_gene': 'CKAP4', 'score': 0.39}]
chr12	GH12I106386	106386343	106386472	0.63	[{'connected_gene': 'POLR3B', 'score': 10.73}, {'connected_gene': 'TCP11L2', 'score': 10.52}, {'connected_gene': 'GC12M106356', 'score': 0.31}, {'connected_gene': 'GC12P106417', 'score': 0.29}]
chr12	GH12I106309	106309220	106310545	0.86	[{'connected_gene': 'POLR3B', 'score': 11.3}, {'connected_gene': 'RNU7-94P', 'score': 11.1}, {'connected_gene': 'TCP11L2', 'score': 8.86}, {'connected_gene': 'CKAP4', 'score': 0.44}]
chr12	GH12I106306	106306747	106309108	0.63	[{'connected_gene': 'POLR3B', 'score': 11.3}, {'connected_gene': 'RNU7-94P', 'score': 11.13}, {'connected_gene': 'TCP11L2', 'score': 8.6}, {'connected_gene': 'CKAP4', 'score': 0.77}]
chr12	GH12I106311	106311201	106312000	0.51	[{'connected_gene': 'POLR3B', 'score': 11.3}, {'connected_gene': 'RNU7-94P', 'score': 11.1}, {'connected_gene': 'CKAP4', 'score': 0.44}, {'connected_gene': 'TCP11L2', 'score': 0.44}]
chr12	GH12I106369	106369198	106370681	0.54	[{'connected_gene': 'TCP11L2', 'score': 22.62}, {'connected_gene': 'TMEM263', 'score': 10.0}, {'connected_gene': 'GC12M106356', 'score': 0.39}, {'connected_gene': 'POLR3B', 'score': 0.39}, {'connected_gene': 'GC12P106417', 'score': 0.25}]
chr12	GH12I106345	106345800	106346092	1.05	[{'connected_gene': 'TCP11L2', 'score': 23.41}, {'connected_gene': 'MTERF2', 'score': 11.93}, {'connected_gene': 'CRY1', 'score': 11.63}, {'connected_gene': 'POLR3B', 'score': 0.39}, {'connected_gene': 'CKAP4', 'score': 0.26}]
chr12	GH12I106414	106414695	106415912	0.49	[{'connected_gene': 'TCP11L2', 'score': 12.19}, {'connected_gene': 'POLR3B', 'score': 10.14}, {'connected_gene': 'RFX4', 'score': 9.99}, {'connected_gene': 'GC12P106417', 'score': 0.77}, {'connected_gene': 'GC12M106356', 'score': 0.22}]
chr12	GH12I106336	106336674	106337246	0.43	[{'connected_gene': 'TCP11L2', 'score': 11.57}, {'connected_gene': 'POLR3B', 'score': 0.34}, {'connected_gene': 'CKAP4', 'score': 0.29}]
chr12	GH12I106341	106341223	106343961	1.03	[{'connected_gene': 'TCP11L2', 'score': 21.96}, {'connected_gene': 'POLR3B', 'score': 0.37}, {'connected_gene': 'CKAP4', 'score': 0.28}]
chr12	GH12I106273	106273833	106275867	1.2	[{'connected_gene': 'TCP11L2', 'score': 11.06}, {'connected_gene': 'POLR3B', 'score': 10.52}, {'connected_gene': 'RNU7-94P', 'score': 0.44}, {'connected_gene': 'ENSG00000277715', 'score': 0.34}, {'connected_gene': 'CKAP4', 'score': 0.31}]
chr12	GH12I106280	106280042	106280399	0.25	[{'connected_gene': 'TCP11L2', 'score': 15.2}, {'connected_gene': 'POLR3B', 'score': 10.1}, {'connected_gene': 'RNU7-94P', 'score': 0.77}, {'connected_gene': 'CKAP4', 'score': 0.34}, {'connected_gene': 'ENSG00000277715', 'score': 0.31}]
chr12	GH12I106427	106427686	106429451	0.31	[{'connected_gene': 'TCP11L2', 'score': 13.13}, {'connected_gene': 'GC12P106417', 'score': 0.39}, {'connected_gene': 'GC12M106422', 'score': 0.29}, {'connected_gene': 'POLR3B', 'score': 0.19}]
chr12	GH12I106328	106328563	106329815	0.6	[{'connected_gene': 'TCP11L2', 'score': 10.33}, {'connected_gene': 'CRY1', 'score': 6.0}, {'connected_gene': 'CKAP4', 'score': 0.34}, {'connected_gene': 'POLR3B', 'score': 0.31}]
chr12	GH12I106299	106299521	106305193	2.6	[{'connected_gene': 'TCP11L2', 'score': 559.71}, {'connected_gene': 'CKAP4', 'score': 550.77}, {'connected_gene': 'ENSG00000260329', 'score': 11.73}, {'connected_gene': 'POLR3B', 'score': 10.82}, {'connected_gene': 'MTERF2', 'score': 10.4}, {'connected_gene': 'TMEM263', 'score': 4.46}]
chr12	GH12I106321	106321075	106322624	0.49	[{'connected_gene': 'TCP11L2', 'score': 8.91}, {'connected_gene': 'CKAP4', 'score': 0.37}, {'connected_gene': 'POLR3B', 'score': 0.28}]
chr12	GH12I106318	106318262	106318807	0.2	[{'connected_gene': 'TCP11L2', 'score': 7.82}, {'connected_gene': 'CKAP4', 'score': 0.39}, {'connected_gene': 'POLR3B', 'score': 0.28}]
chr12	GH12I106327	106327199	106327747	0.31	[{'connected_gene': 'TCP11L2', 'score': 6.34}, {'connected_gene': 'CKAP4', 'score': 0.34}, {'connected_gene': 'POLR3B', 'score': 0.29}]
chr12	GH12I106226	106226802	106228570	1.31	[{'connected_gene': 'TCP11L2', 'score': 16.39}, {'connected_gene': 'RNU7-94P', 'score': 12.62}, {'connected_gene': 'POLR3B', 'score': 11.09}, {'connected_gene': 'GC12M106238', 'score': 0.39}, {'connected_gene': 'PIR51001', 'score': 0.34}]
chr12	GH12I106271	106271343	106271492	0.2	[{'connected_gene': 'TCP11L2', 'score': 10.83}, {'connected_gene': 'RNU7-94P', 'score': 0.39}, {'connected_gene': 'ENSG00000277715', 'score': 0.34}, {'connected_gene': 'CKAP4', 'score': 0.29}]
chr12	GH12I106269	106269263	106269392	0.73	[{'connected_gene': 'TCP11L2', 'score': 10.83}, {'connected_gene': 'RNU7-94P', 'score': 0.39}, {'connected_gene': 'ENSG00000277715', 'score': 0.37}, {'connected_gene': 'CKAP4', 'score': 0.29}]
chr12	GH12I106272	106271683	106271832	0.31	[{'connected_gene': 'TCP11L2', 'score': 10.83}, {'connected_gene': 'RNU7-94P', 'score': 0.39}, {'connected_gene': 'ENSG00000277715', 'score': 0.34}, {'connected_gene': 'CKAP4', 'score': 0.29}]
chr12	GH12I106270	106270023	106270100	0.27	[{'connected_gene': 'TCP11L2', 'score': 10.83}, {'connected_gene': 'RNU7-94P', 'score': 0.39}, {'connected_gene': 'ENSG00000277715', 'score': 0.37}, {'connected_gene': 'CKAP4', 'score': 0.29}]
chr12	GH12I106274	106270321	106270445	0.22	[{'connected_gene': 'TCP11L2', 'score': 10.83}, {'connected_gene': 'RNU7-94P', 'score': 0.39}, {'connected_gene': 'ENSG00000277715', 'score': 0.37}, {'connected_gene': 'CKAP4', 'score': 0.29}]
chr12	GH12I106286	106286966	106290007	1.67	[{'connected_gene': 'CRY1', 'score': 12.74}, {'connected_gene': 'POLR3B', 'score': 10.25}, {'connected_gene': 'TCP11L2', 'score': 7.31}, {'connected_gene': 'MTERF2', 'score': 4.71}, {'connected_gene': 'GC12M106290', 'score': 0.77}, {'connected_gene': 'RNU7-94P', 'score': 0.44}, {'connected_gene': 'CKAP4', 'score': 0.37}]
chr12	GH12I106305	106305503	106305975	0.6	[{'connected_gene': 'CKAP4', 'score': 550.77}, {'connected_gene': 'TCP11L2', 'score': 10.07}, {'connected_gene': 'POLR3B', 'score': 0.23}]
chr12	GH12I106216	106216388	106216646	0.22	[{'connected_gene': 'RNU7-94P', 'score': 11.59}, {'connected_gene': 'TCP11L2', 'score': 9.81}, {'connected_gene': 'RFX4', 'score': 1.32}, {'connected_gene': 'PIR51001', 'score': 0.39}, {'connected_gene': 'GC12M106238', 'score': 0.34}]
chr12	GH12I106224	106224000	106224560	0.92	[{'connected_gene': 'RNU7-94P', 'score': 12.62}, {'connected_gene': 'TCP11L2', 'score': 11.39}, {'connected_gene': 'POLR3B', 'score': 11.08}, {'connected_gene': 'GC12M106238', 'score': 0.39}, {'connected_gene': 'PIR51001', 'score': 0.37}]
chr12	GH12I106417	106417962	106419717	1.25	[{'connected_gene': 'GC12P106417', 'score': 550.77}, {'connected_gene': 'POLR3B', 'score': 10.13}, {'connected_gene': 'RFX4', 'score': 9.34}, {'connected_gene': 'TCP11L2', 'score': 7.72}, {'connected_gene': 'GC12M106422', 'score': 0.26}]
chr12	GH12I106295	106295687	106297209	1.16	[{'connected_gene': 'GC12P106296', 'score': 550.77}, {'connected_gene': 'POLR3B', 'score': 10.73}, {'connected_gene': 'TCP11L2', 'score': 7.81}, {'connected_gene': 'GC12M106290', 'score': 0.77}, {'connected_gene': 'CKAP4', 'score': 0.44}]
chr12	GH12I106297	106297544	106298181	0.2	[{'connected_gene': 'GC12P106296', 'score': 550.77}, {'connected_gene': 'POLR3B', 'score': 10.74}, {'connected_gene': 'TCP11L2', 'score': 7.7}, {'connected_gene': 'CKAP4', 'score': 0.44}]
chr12	GH12I106357	106357143	106359753	2.13	[{'connected_gene': 'GC12M106356', 'score': 550.77}, {'connected_gene': 'POLR3B', 'score': 550.77}, {'connected_gene': 'TCP11L2', 'score': 10.84}, {'connected_gene': 'GC12P106417', 'score': 0.22}]
chr12	GH12I106251	106251123	106252365	0.86	[{'connected_gene': 'ENSG00000277715', 'score': 550.77}, {'connected_gene': 'TCP11L2', 'score': 11.18}, {'connected_gene': 'RNU7-94P', 'score': 0.29}, {'connected_gene': 'CKAP4', 'score': 0.23}]