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
ENST00000551526	[[50344523, 50344973], [50347937, 50348102], [50348412, 50348493], [50349181, 50349206], [50349568, 50349723], [50351270, 50352156]]	[[50344613, 50344973], [50347937, 50348102], [50348412, 50348493], [50349181, 50349206], [50349568, 50349609]]
ENST00000199280	[[50344528, 50344973], [50347937, 50348102], [50348412, 50348493], [50349181, 50352664]]	[[50344613, 50344973], [50347937, 50348102], [50348412, 50348493], [50349181, 50349391]]
ENST00000550862	[[50344536, 50344973], [50347937, 50348228], [50348412, 50348493]]	[[50344613, 50344973], [50347937, 50348228], [50348412, 50348493]]
NM_000486	[[50344523, 50344973], [50347937, 50348102], [50348412, 50348493], [50349181, 50352664]]	[[50344613, 50344973], [50347937, 50348102], [50348412, 50348493], [50349181, 50349391]]

Promoter

Chrom	Start	End	Description
chr12	50344516	50344532	CAGE_peak_1_at_AQP2_5end
chr12	50350071	50350080	CAGE_peak_14_at_AQP2_5end
chr12	50350306	50350309	CAGE_peak_24_at_AQP2_5end
chr12	50350567	50350576	CAGE_peak_3_at_AQP2_5end
chr12	50350704	50350713	CAGE_peak_2_at_AQP2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I049697	49697146	49700138	1.51	[{'connected_gene': 'TUBA1C', 'score': 8.0}, {'connected_gene': 'FMNL3', 'score': 5.62}, {'connected_gene': 'AQP2', 'score': 2.76}, {'connected_gene': 'LOC105369762', 'score': 0.44}, {'connected_gene': 'PIR31660', 'score': 0.23}]
chr12	GH12I050046	50046705	50048737	0.72	[{'connected_gene': 'SMARCD1', 'score': 11.7}, {'connected_gene': 'AQP6', 'score': 11.35}, {'connected_gene': 'AQP2', 'score': 10.92}, {'connected_gene': 'COX14', 'score': 10.11}, {'connected_gene': 'LIMA1', 'score': 9.31}, {'connected_gene': 'RACGAP1', 'score': 6.81}, {'connected_gene': 'C1QL4', 'score': 4.78}, {'connected_gene': 'ASIC1', 'score': 0.44}]
chr12	GH12I050020	50020530	50022214	0.63	[{'connected_gene': 'ASIC1', 'score': 11.93}, {'connected_gene': 'AQP6', 'score': 11.31}, {'connected_gene': 'AQP5', 'score': 11.3}, {'connected_gene': 'AQP2', 'score': 9.9}, {'connected_gene': 'RACGAP1', 'score': 0.39}, {'connected_gene': 'PIR47189', 'score': 0.29}]
chr12	GH12I050015	50015968	50019680	0.95	[{'connected_gene': 'ASIC1', 'score': 11.93}, {'connected_gene': 'BCDIN3D-AS1', 'score': 11.35}, {'connected_gene': 'AQP6', 'score': 11.31}, {'connected_gene': 'AQP5', 'score': 11.3}, {'connected_gene': 'RACGAP1', 'score': 10.18}, {'connected_gene': 'AQP2', 'score': 9.91}, {'connected_gene': 'ENSG00000272368', 'score': 9.8}, {'connected_gene': 'COX14', 'score': 9.67}, {'connected_gene': 'LIMA1', 'score': 9.39}, {'connected_gene': 'LARP4', 'score': 7.22}, {'connected_gene': 'PIR47189', 'score': 0.31}]
chr12	GH12I050039	50039200	50040294	1.27	[{'connected_gene': 'AQP6', 'score': 11.34}, {'connected_gene': 'AQP5', 'score': 11.24}, {'connected_gene': 'AQP2', 'score': 10.53}, {'connected_gene': 'LIMA1', 'score': 9.52}, {'connected_gene': 'LARP4', 'score': 7.94}, {'connected_gene': 'RACGAP1', 'score': 7.46}, {'connected_gene': 'ASIC1', 'score': 0.37}]
chr12	GH12I050059	50059838	50060067	0.43	[{'connected_gene': 'AQP6', 'score': 11.66}, {'connected_gene': 'RACGAP1', 'score': 11.16}, {'connected_gene': 'AQP2', 'score': 10.55}, {'connected_gene': 'COX14', 'score': 10.36}, {'connected_gene': 'CERS5', 'score': 10.32}, {'connected_gene': 'LIMA1', 'score': 9.2}, {'connected_gene': 'GC12P050064', 'score': 0.77}, {'connected_gene': 'ASIC1', 'score': 0.77}]
chr12	GH12I049945	49944482	49946289	1.66	[{'connected_gene': 'AQP5', 'score': 9.2}, {'connected_gene': 'LOC105369763', 'score': 0.77}, {'connected_gene': 'AQP2', 'score': 0.44}]
chr12	GH12I049887	49887304	49893716	0.87	[{'connected_gene': 'AQP2', 'score': 10.89}, {'connected_gene': 'FAIM2', 'score': 6.99}, {'connected_gene': 'GC12M049898', 'score': 0.39}, {'connected_gene': 'RPL35AP28', 'score': 0.31}]
chr12	GH12I049950	49950688	49950747	0.61	[{'connected_gene': 'AQP2', 'score': 550.77}, {'connected_gene': 'LOC105369763', 'score': 0.44}]
chr12	GH12I049952	49952011	49954431	0.43	[{'connected_gene': 'AQP2', 'score': 0.77}, {'connected_gene': 'ENSG00000257378', 'score': 0.77}, {'connected_gene': 'LOC101927318', 'score': 0.44}]
chr12	GH12I050024	50024143	50026246	2.08	[{'connected_gene': 'RACGAP1', 'score': 560.25}, {'connected_gene': 'LMBR1L', 'score': 27.87}, {'connected_gene': 'KMT2D', 'score': 27.84}, {'connected_gene': 'SMARCD1', 'score': 26.19}, {'connected_gene': 'BCDIN3D', 'score': 22.62}, {'connected_gene': 'PRPF40B', 'score': 19.27}, {'connected_gene': 'ATF1', 'score': 13.51}, {'connected_gene': 'ASIC1', 'score': 11.94}, {'connected_gene': 'AQP6', 'score': 11.3}, {'connected_gene': 'AQP5', 'score': 11.29}, {'connected_gene': 'AQP2', 'score': 10.23}, {'connected_gene': 'ENSG00000257964', 'score': 9.84}, {'connected_gene': 'LIMA1', 'score': 9.4}, {'connected_gene': 'PIR47189', 'score': 0.28}]
chr12	GH12I050032	50032800	50033547	1.12	[{'connected_gene': 'RACGAP1', 'score': 555.91}, {'connected_gene': 'AQP6', 'score': 11.26}, {'connected_gene': 'AQP5', 'score': 11.25}, {'connected_gene': 'AQP2', 'score': 10.54}, {'connected_gene': 'LIMA1', 'score': 9.52}, {'connected_gene': 'ASIC1', 'score': 0.34}]
chr12	GH12I050066	50066121	50067203	1.13	[{'connected_gene': 'CERS5', 'score': 27.47}, {'connected_gene': 'AQP6', 'score': 10.98}, {'connected_gene': 'RACGAP1', 'score': 10.78}, {'connected_gene': 'AQP2', 'score': 10.2}, {'connected_gene': 'GC12P050064', 'score': 0.77}, {'connected_gene': 'ASIC1', 'score': 0.44}, {'connected_gene': 'SMARCD1', 'score': 0.37}]
chr12	GH12I049942	49942798	49942947	0.63	[{'connected_gene': 'LOC105369763', 'score': 550.77}, {'connected_gene': 'AQP2', 'score': 0.44}]
chr12	GH12I049944	49944078	49944227	0.63	[{'connected_gene': 'LOC105369763', 'score': 550.77}, {'connected_gene': 'AQP2', 'score': 0.44}]
chr12	GH12I049863	49863958	49864929	0.51	[{'connected_gene': 'RPL35AP28', 'score': 550.77}, {'connected_gene': 'NCKAP5L', 'score': 10.77}, {'connected_gene': 'AQP5', 'score': 10.3}, {'connected_gene': 'AQP6', 'score': 10.29}, {'connected_gene': 'AQP2', 'score': 9.9}, {'connected_gene': 'ENSG00000257253', 'score': 7.29}, {'connected_gene': 'GC12M049898', 'score': 0.28}]
chr12	GH12I049876	49876649	49884105	0.79	[{'connected_gene': 'ENSG00000257298', 'score': 19.11}, {'connected_gene': 'ENSG00000257964', 'score': 13.9}, {'connected_gene': 'LIMA1', 'score': 13.78}, {'connected_gene': 'LOC100422296', 'score': 13.26}, {'connected_gene': 'PRPF40B', 'score': 11.57}, {'connected_gene': 'PRPH', 'score': 10.83}, {'connected_gene': 'BCDIN3D', 'score': 10.58}, {'connected_gene': 'LMBR1L', 'score': 10.47}, {'connected_gene': 'AQP2', 'score': 10.45}, {'connected_gene': 'TUBA1A', 'score': 9.7}, {'connected_gene': 'FAIM2', 'score': 6.36}, {'connected_gene': 'LINC02395', 'score': 4.3}, {'connected_gene': 'ENSG00000272368', 'score': 4.14}, {'connected_gene': 'C1QL4', 'score': 4.14}, {'connected_gene': 'RPL35AP28', 'score': 0.37}, {'connected_gene': 'GC12M049898', 'score': 0.34}]
chr12	GH12I049990	49990208	49991000	0.31	[{'connected_gene': 'PIR47189', 'score': 550.77}, {'connected_gene': 'RACGAP1', 'score': 21.02}, {'connected_gene': 'AQP6', 'score': 12.03}, {'connected_gene': 'ASIC1', 'score': 11.3}, {'connected_gene': 'AQP5', 'score': 11.24}, {'connected_gene': 'AQP2', 'score': 10.74}, {'connected_gene': 'COX14', 'score': 9.66}, {'connected_gene': 'MCRS1', 'score': 9.26}, {'connected_gene': 'LIMA1', 'score': 9.22}]