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
ENST00000552828	[[106633671, 106634127], [106670192, 106670327], [106697789, 106698029]]	None
ENST00000553039	[[106634099, 106634127], [106647855, 106647997], [106670192, 106670327], [106697789, 106698057]]	[[106634099, 106634127], [106647855, 106647906]]
ENST00000378026	[[106631654, 106634127], [106641146, 106641766]]	[[106632801, 106634127], [106641146, 106641629]]
NM_006825	[[106631658, 106634127], [106641146, 106641713]]	[[106632801, 106634127], [106641146, 106641629]]

Promoter

Chrom	Start	End	Description
chr12	106632425	106632429	CAGE_peak_11_at_CKAP4_5end
chr12	106633037	106633066	CAGE_peak_10_at_CKAP4_5end
chr12	106641293	106641304	CAGE_peak_6_at_CKAP4_5end
chr12	106641483	106641492	CAGE_peak_7_at_CKAP4_5end
chr12	106641662	106641673	CAGE_peak_5_at_CKAP4_5end
chr12	106641692	106641704	CAGE_peak_2_at_CKAP4_5end
chr12	106641713	106641725	CAGE_peak_4_at_CKAP4_5end
chr12	106641728	106641805	CAGE_peak_1_at_CKAP4_5end
chr12	106641852	106641863	CAGE_peak_9_at_CKAP4_5end
chr12	106641879	106641899	CAGE_peak_3_at_CKAP4_5end
chr12	106642323	106642356	CAGE_peak_8_at_CKAP4_5end
chr12	106697974	106697990	CAGE_peak_31_at_CKAP4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I106073	106073417	106085979	1.43	[{'connected_gene': 'MTERF2', 'score': 62.69}, {'connected_gene': 'ENSG00000260329', 'score': 21.19}, {'connected_gene': 'LOC100287944', 'score': 11.98}, {'connected_gene': 'RIC8B', 'score': 11.31}, {'connected_gene': 'ENSG00000257890', 'score': 9.15}, {'connected_gene': 'CKAP4', 'score': 4.88}, {'connected_gene': 'GC12M106085', 'score': 0.44}, {'connected_gene': 'NUAK1', 'score': 0.21}]
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	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	GH12I106254	106254783	106255032	0.62	[{'connected_gene': 'POLR3B', 'score': 10.1}, {'connected_gene': 'ENSG00000277715', 'score': 0.77}, {'connected_gene': 'RNU7-94P', 'score': 0.31}, {'connected_gene': 'CKAP4', '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	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	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	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	GH12I105933	105933304	105936823	1.27	[{'connected_gene': 'CKAP4', 'score': 1.26}, {'connected_gene': 'GC12M105897', 'score': 0.28}, {'connected_gene': 'ST13P3', 'score': 0.18}]
chr12	GH12I106284	106284041	106285576	0.88	[{'connected_gene': 'RNU7-94P', 'score': 550.77}, {'connected_gene': 'POLR3B', 'score': 10.06}, {'connected_gene': 'GC12M106290', 'score': 0.44}, {'connected_gene': 'CKAP4', 'score': 0.37}]
chr12	GH12I106283	106282673	106282692	0.93	[{'connected_gene': 'RNU7-94P', 'score': 550.77}, {'connected_gene': 'CKAP4', 'score': 0.34}, {'connected_gene': 'ENSG00000277715', 'score': 0.29}]
chr12	GH12I106282	106282443	106282652	0.91	[{'connected_gene': 'RNU7-94P', 'score': 550.77}, {'connected_gene': 'CKAP4', 'score': 0.34}, {'connected_gene': 'ENSG00000277715', 'score': 0.29}]
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	GH12I106294	106294955	106295527	0.2	[{'connected_gene': 'GC12P106296', 'score': 550.77}, {'connected_gene': 'POLR3B', 'score': 10.73}, {'connected_gene': 'GC12M106290', 'score': 0.77}, {'connected_gene': 'CKAP4', 'score': 0.44}]
chr12	GH12I106291	106291403	106291650	0.57	[{'connected_gene': 'GC12M106290', 'score': 550.77}, {'connected_gene': 'POLR3B', 'score': 10.25}, {'connected_gene': 'RNU7-94P', 'score': 0.44}, {'connected_gene': 'CKAP4', 'score': 0.39}]
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}]
chr12	GH12I106244	106244813	106250476	2.39	[{'connected_gene': 'ENSG00000258355', 'score': 550.77}, {'connected_gene': 'GC12M106247', 'score': 550.77}, {'connected_gene': 'CKAP4', 'score': 550.22}]