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
ENST00000407540	[[20191871, 20192927], [20194059, 20194170], [20196894, 20197020], [20200201, 20200327], [20201715, 20201841], [20202921, 20203047], [20205504, 20206071], [20212169, 20212455]]	[[20192871, 20192927], [20194059, 20194170], [20196894, 20197020], [20200201, 20200327], [20201715, 20201841], [20202921, 20203047], [20205504, 20206071], [20212169, 20212392]]
ENST00000421259	[[20192797, 20192927], [20194059, 20194170], [20196894, 20197020], [20200201, 20200327], [20201715, 20201841], [20205504, 20206071], [20212169, 20212426]]	[[20192871, 20192927], [20194059, 20194170], [20196894, 20197020], [20200201, 20200327], [20201715, 20201841], [20205504, 20206071], [20212169, 20212392]]
ENST00000478482	[[20194097, 20194170], [20196894, 20197614]]	None
NM_002381	[[20191812, 20192927], [20194059, 20194170], [20196894, 20197020], [20200201, 20200327], [20201715, 20201841], [20202921, 20203047], [20205504, 20206071], [20212169, 20212455]]	[[20192871, 20192927], [20194059, 20194170], [20196894, 20197020], [20200201, 20200327], [20201715, 20201841], [20202921, 20203047], [20205504, 20206071], [20212169, 20212392]]

Promoter

Chrom	Start	End	Description
chr2	20212422	20212436	CAGE_peak_1_at_MATN3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I020070	20070155	20075659	1.3	[{'connected_gene': 'LAPTM4A', 'score': 26.93}, {'connected_gene': 'ENSG00000234378', 'score': 15.05}, {'connected_gene': 'MATN3', 'score': 13.63}, {'connected_gene': 'LOC105373463', 'score': 12.8}, {'connected_gene': 'GC02M020086', 'score': 0.34}]
chr2	GH02I020112	20112676	20116513	0.97	[{'connected_gene': 'LAPTM4A', 'score': 15.38}, {'connected_gene': 'ENSG00000234378', 'score': 14.63}, {'connected_gene': 'RNU6-961P', 'score': 11.46}, {'connected_gene': 'SDC1', 'score': 11.36}, {'connected_gene': 'MATN3', 'score': 10.4}, {'connected_gene': 'GC02P020141', 'score': 0.31}, {'connected_gene': 'LOC105373463', 'score': 0.21}]
chr2	GH02I020181	20181766	20187458	1.73	[{'connected_gene': 'SDC1', 'score': 21.55}, {'connected_gene': 'MATN3', 'score': 18.68}, {'connected_gene': 'TTC32', 'score': 13.27}, {'connected_gene': 'PUM2', 'score': 13.26}, {'connected_gene': 'RNU7-113P', 'score': 11.12}, {'connected_gene': 'HS1BP3', 'score': 4.01}, {'connected_gene': 'RNU6-961P', 'score': 0.44}, {'connected_gene': 'GC02M020197', 'score': 0.28}]
chr2	GH02I020188	20188002	20190369	0.86	[{'connected_gene': 'SDC1', 'score': 17.73}, {'connected_gene': 'MATN3', 'score': 8.53}, {'connected_gene': 'RNU6-961P', 'score': 0.39}, {'connected_gene': 'GC02M020197', 'score': 0.29}]
chr2	GH02I020195	20195297	20199817	1.1	[{'connected_gene': 'SDC1', 'score': 5.33}, {'connected_gene': 'MATN3', 'score': 4.33}, {'connected_gene': 'GC02M020197', 'score': 0.34}, {'connected_gene': 'RNU6-961P', 'score': 0.34}]
chr2	GH02I020192	20192570	20194016	0.62	[{'connected_gene': 'SDC1', 'score': 7.72}, {'connected_gene': 'MATN3', 'score': 6.25}, {'connected_gene': 'RNU6-961P', 'score': 0.37}, {'connected_gene': 'GC02M020197', 'score': 0.31}]
chr2	GH02I020172	20172053	20173069	1.21	[{'connected_gene': 'SDC1', 'score': 13.31}, {'connected_gene': 'MATN3', 'score': 6.42}, {'connected_gene': 'GC02P020178', 'score': 0.77}, {'connected_gene': 'GC02M020159', 'score': 0.44}]
chr2	GH02I020122	20121763	20123731	0.43	[{'connected_gene': 'SDC1', 'score': 16.8}, {'connected_gene': 'ENSG00000234378', 'score': 12.37}, {'connected_gene': 'RNU6-961P', 'score': 11.48}, {'connected_gene': 'MATN3', 'score': 10.39}, {'connected_gene': 'LAPTM4A', 'score': 6.06}, {'connected_gene': 'GC02P020141', 'score': 0.37}, {'connected_gene': 'LOC105373463', 'score': 0.19}]
chr2	GH02I020135	20135740	20136779	1.32	[{'connected_gene': 'SDC1', 'score': 18.91}, {'connected_gene': 'RNU6-961P', 'score': 11.57}, {'connected_gene': 'MATN3', 'score': 10.34}, {'connected_gene': 'GC02P020141', 'score': 0.44}, {'connected_gene': 'ENSG00000234378', 'score': 0.31}]
chr2	GH02I020128	20128843	20131337	0.88	[{'connected_gene': 'SDC1', 'score': 16.22}, {'connected_gene': 'RNU6-961P', 'score': 11.56}, {'connected_gene': 'MATN3', 'score': 10.42}, {'connected_gene': 'ENSG00000234378', 'score': 5.54}, {'connected_gene': 'GC02P020141', 'score': 0.39}]
chr2	GH02I020136	20136924	20137577	0.31	[{'connected_gene': 'SDC1', 'score': 11.71}, {'connected_gene': 'RNU6-961P', 'score': 11.57}, {'connected_gene': 'MATN3', 'score': 10.34}, {'connected_gene': 'GC02P020141', 'score': 0.77}, {'connected_gene': 'ENSG00000234378', 'score': 0.29}]
chr2	GH02I020177	20177517	20181335	1.31	[{'connected_gene': 'SDC1', 'score': 25.62}, {'connected_gene': 'RNU7-113P', 'score': 11.05}, {'connected_gene': 'MATN3', 'score': 9.67}, {'connected_gene': 'RNU6-961P', 'score': 0.77}, {'connected_gene': 'GC02M020197', 'score': 0.26}]
chr2	GH02I020004	20004141	20006851	0.78	[{'connected_gene': 'WDR35', 'score': 8.38}, {'connected_gene': 'TTC32', 'score': 7.9}, {'connected_gene': 'LOC105373463', 'score': 4.6}, {'connected_gene': 'MATN3', 'score': 0.44}, {'connected_gene': 'LOC101928222', 'score': 0.37}]
chr2	GH02I019988	19988944	19991123	2.02	[{'connected_gene': 'WDR35', 'score': 558.09}, {'connected_gene': 'LOC101928222', 'score': 550.77}, {'connected_gene': 'TTC32', 'score': 34.08}, {'connected_gene': 'MATN3', 'score': 12.53}, {'connected_gene': 'RNFT1P1', 'score': 0.77}]
chr2	GH02I019863	19863169	19864177	1.3	[{'connected_gene': 'MATN3', 'score': 7.85}, {'connected_gene': 'LAPTM4A', 'score': 4.74}, {'connected_gene': 'LINC00954', 'score': 0.44}, {'connected_gene': 'CISD1P1', 'score': 0.28}]
chr2	GH02I020037	20037699	20038876	0.31	[{'connected_gene': 'MATN3', 'score': 12.19}, {'connected_gene': 'LAPTM4A', 'score': 0.39}, {'connected_gene': 'GC02P020023', 'score': 0.37}, {'connected_gene': 'PIR35445', 'score': 0.37}]
chr2	GH02I020033	20033273	20035308	0.2	[{'connected_gene': 'MATN3', 'score': 11.28}, {'connected_gene': 'GC02P020023', 'score': 0.39}, {'connected_gene': 'PIR35445', 'score': 0.39}, {'connected_gene': 'LAPTM4A', 'score': 0.37}]
chr2	GH02I020027	20027157	20028006	1.06	[{'connected_gene': 'MATN3', 'score': 11.31}, {'connected_gene': 'ENSG00000234378', 'score': 9.35}, {'connected_gene': 'GC02P020023', 'score': 0.44}, {'connected_gene': 'PIR35445', 'score': 0.44}, {'connected_gene': 'LAPTM4A', 'score': 0.34}]
chr2	GH02I020123	20123756	20126676	0.49	[{'connected_gene': 'MATN3', 'score': 18.52}, {'connected_gene': 'SDC1', 'score': 11.23}, {'connected_gene': 'RNU6-961P', 'score': 10.99}, {'connected_gene': 'ENSG00000234378', 'score': 7.02}, {'connected_gene': 'TTC32', 'score': 5.21}, {'connected_gene': 'WDR35', 'score': 5.1}, {'connected_gene': 'GC02P020141', 'score': 0.37}, {'connected_gene': 'LOC105373463', 'score': 0.19}]
chr2	GH02I019910	19910921	19912729	0.97	[{'connected_gene': 'MATN3', 'score': 10.79}, {'connected_gene': 'ENSG00000271991', 'score': 0.44}, {'connected_gene': 'GC02P019954', 'score': 0.26}, {'connected_gene': 'WDR35', 'score': 0.18}]
chr2	GH02I019895	19895384	19895979	0.86	[{'connected_gene': 'MATN3', 'score': 17.84}, {'connected_gene': 'TTC32', 'score': 0.44}, {'connected_gene': 'LINC00954', 'score': 0.31}]
chr2	GH02I020011	20011278	20014097	1.85	[{'connected_gene': 'MATN3', 'score': 562.04}, {'connected_gene': 'TTC32', 'score': 27.26}, {'connected_gene': 'LOC101928222', 'score': 0.34}]
chr2	GH02I020043	20043736	20045712	0.38	[{'connected_gene': 'MATN3', 'score': 18.08}, {'connected_gene': 'ENSG00000234378', 'score': 13.46}, {'connected_gene': 'LOC105373463', 'score': 11.97}, {'connected_gene': 'LAPTM4A', 'score': 0.44}, {'connected_gene': 'GC02P020023', 'score': 0.34}, {'connected_gene': 'PIR35445', 'score': 0.34}]
chr2	GH02I020061	20061356	20064705	1.28	[{'connected_gene': 'MATN3', 'score': 26.95}, {'connected_gene': 'LOC105373463', 'score': 14.93}, {'connected_gene': 'TTC32', 'score': 1.24}, {'connected_gene': 'GC02M020086', 'score': 0.29}, {'connected_gene': 'ENSG00000234378', 'score': 0.26}]
chr2	GH02I020008	20008780	20008949	0.86	[{'connected_gene': 'MATN3', 'score': 0.77}, {'connected_gene': 'LOC101928222', 'score': 0.37}]
chr2	GH02I019868	19868483	19869707	1.07	[{'connected_gene': 'LINC00954', 'score': 550.77}, {'connected_gene': 'MATN3', 'score': 7.66}, {'connected_gene': 'TTC32', 'score': 0.29}]
chr2	GH02I020166	20165646	20167618	1.3	[{'connected_gene': 'PUM2', 'score': 75.73}, {'connected_gene': 'TTC32', 'score': 41.11}, {'connected_gene': 'MATN3', 'score': 15.42}, {'connected_gene': 'WDR35', 'score': 11.75}, {'connected_gene': 'LINC00954', 'score': 11.67}, {'connected_gene': 'LINC01376', 'score': 11.39}, {'connected_gene': 'SDC1', 'score': 11.18}, {'connected_gene': 'LAPTM4A', 'score': 10.23}, {'connected_gene': 'GC02M020159', 'score': 0.77}, {'connected_gene': 'GC02P020178', 'score': 0.44}]
chr2	GH02I020065	20065023	20066947	1.34	[{'connected_gene': 'TTC32', 'score': 62.78}, {'connected_gene': 'WDR35', 'score': 35.15}, {'connected_gene': 'LINC01376', 'score': 31.44}, {'connected_gene': 'PUM2', 'score': 21.77}, {'connected_gene': 'MATN3', 'score': 14.12}, {'connected_gene': 'ENSG00000234378', 'score': 11.43}, {'connected_gene': 'LOC105373463', 'score': 4.67}, {'connected_gene': 'GC02M020086', 'score': 0.31}]
chr2	GH02I019931	19931811	19935134	0.92	[{'connected_gene': 'TTC32', 'score': 37.17}, {'connected_gene': 'MATN3', 'score': 18.09}, {'connected_gene': 'WDR35', 'score': 7.66}, {'connected_gene': 'GC02P019954', 'score': 0.34}, {'connected_gene': 'ENSG00000271991', 'score': 0.29}]
chr2	GH02I019899	19899796	19903426	2.31	[{'connected_gene': 'TTC32', 'score': 594.31}, {'connected_gene': 'ENSG00000271991', 'score': 550.77}, {'connected_gene': 'MATN3', 'score': 14.97}, {'connected_gene': 'LINC00954', 'score': 14.13}, {'connected_gene': 'PUM2', 'score': 9.69}, {'connected_gene': 'WDR35', 'score': 7.39}]
chr2	GH02I019971	19971209	19972631	0.53	[{'connected_gene': 'TTC32', 'score': 43.17}, {'connected_gene': 'MATN3', 'score': 11.14}, {'connected_gene': 'RNU7-113P', 'score': 10.19}, {'connected_gene': 'RNFT1P1', 'score': 0.39}, {'connected_gene': 'WDR35', 'score': 0.37}, {'connected_gene': 'GC02P019954', 'score': 0.37}]
chr2	GH02I020047	20047981	20053520	2.63	[{'connected_gene': 'LOC105373463', 'score': 563.76}, {'connected_gene': 'LAPTM4A', 'score': 550.77}, {'connected_gene': 'MATN3', 'score': 18.23}, {'connected_gene': 'ENSG00000234378', 'score': 13.9}, {'connected_gene': 'TTC32', 'score': 2.71}, {'connected_gene': 'PUM2', 'score': 1.19}, {'connected_gene': 'GC02P020023', 'score': 0.31}, {'connected_gene': 'PIR35445', 'score': 0.31}]
chr2	GH02I020041	20041322	20043230	0.49	[{'connected_gene': 'LOC105373463', 'score': 13.22}, {'connected_gene': 'MATN3', 'score': 5.96}, {'connected_gene': 'ENSG00000234378', 'score': 5.07}, {'connected_gene': 'LAPTM4A', 'score': 0.44}, {'connected_gene': 'GC02P020023', 'score': 0.37}, {'connected_gene': 'PIR35445', 'score': 0.37}]
chr2	GH02I020036	20036062	20036886	0.69	[{'connected_gene': 'LOC105373463', 'score': 11.6}, {'connected_gene': 'ENSG00000234378', 'score': 11.53}, {'connected_gene': 'MATN3', 'score': 8.97}, {'connected_gene': 'GC02P020023', 'score': 0.39}, {'connected_gene': 'PIR35445', 'score': 0.39}, {'connected_gene': 'LAPTM4A', 'score': 0.37}]
chr2	GH02I020138	20138971	20142761	1.52	[{'connected_gene': 'GC02P020141', 'score': 550.77}, {'connected_gene': 'SDC1', 'score': 7.67}, {'connected_gene': 'ENSG00000234378', 'score': 6.12}, {'connected_gene': 'MATN3', 'score': 5.22}, {'connected_gene': 'LAPTM4A', 'score': 5.18}]
chr2	GH02I020108	20108577	20111601	1.01	[{'connected_gene': 'ENSG00000234378', 'score': 15.71}, {'connected_gene': 'SDC1', 'score': 11.18}, {'connected_gene': 'MATN3', 'score': 11.09}, {'connected_gene': 'RNU6-961P', 'score': 11.01}, {'connected_gene': 'GC02P020141', 'score': 0.29}, {'connected_gene': 'LOC105373463', 'score': 0.22}]
chr2	GH02I020357	20357562	20358407	0.4	[{'connected_gene': 'GC02P020358', 'score': 550.77}, {'connected_gene': 'MATN3', 'score': 4.56}, {'connected_gene': 'PUM2', 'score': 0.44}]
chr2	GH02I020090	20090571	20095452	1.37	[{'connected_gene': 'GC02M020086', 'score': 550.77}, {'connected_gene': 'MATN3', 'score': 25.89}, {'connected_gene': 'ENSG00000234378', 'score': 15.25}, {'connected_gene': 'LOC101928222', 'score': 12.13}, {'connected_gene': 'WDR35', 'score': 12.13}, {'connected_gene': 'RNU6-961P', 'score': 10.82}, {'connected_gene': 'RNU7-113P', 'score': 10.82}, {'connected_gene': 'LOC105373463', 'score': 7.13}]
chr2	GH02I019903	19903560	19903709	0.51	[{'connected_gene': 'ENSG00000271991', 'score': 550.77}, {'connected_gene': 'TTC32', 'score': 550.77}, {'connected_gene': 'MATN3', 'score': 9.66}, {'connected_gene': 'GC02P019954', 'score': 0.23}]