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
ENST00000260264	[[120107348, 120107416], [120117157, 120117226], [120139918, 120139953], [120168973, 120169099], [120170332, 120170435], [120172994, 120173077], [120175738, 120175921], [120176352, 120176494], [120178187, 120178324], [120180133, 120180295], [120186069, 120186136], [120187937, 120188073], [120189061, 120190653]]	[[120107382, 120107416], [120117157, 120117226], [120139918, 120139953], [120168973, 120169099], [120170332, 120170435], [120172994, 120173077], [120175738, 120175921], [120176352, 120176494], [120178187, 120178324], [120180133, 120180295], [120186069, 120186136], [120187937, 120188073], [120189061, 120189101]]
ENST00000543440	[[120110902, 120111080], [120117157, 120117226], [120139918, 120139953], [120168973, 120169099], [120170332, 120170435], [120172994, 120173077], [120175738, 120175921], [120176352, 120176494], [120178187, 120178324], [120180133, 120180295], [120186069, 120186136], [120187937, 120188073], [120189061, 120189592]]	[[120111052, 120111080], [120117157, 120117226], [120139918, 120139953], [120168973, 120169099], [120170332, 120170435], [120172994, 120173077], [120175738, 120175921], [120176352, 120176494], [120178187, 120178324], [120180133, 120180295], [120186069, 120186136], [120187937, 120188073], [120189061, 120189101]]
ENST00000533620	[[120110969, 120111080], [120117157, 120117226], [120139918, 120139953], [120168973, 120169099], [120170332, 120170435], [120171751, 120171798], [120172994, 120173077], [120175738, 120175921], [120176352, 120176494], [120178187, 120178324], [120180133, 120180295], [120186069, 120186136], [120187937, 120188073], [120189061, 120189148]]	[[120111052, 120111080], [120117157, 120117226], [120139918, 120139953], [120168973, 120169099], [120170332, 120170435], [120171751, 120171771]]
ENST00000606153	[[120171611, 120175039]]	None
ENST00000532638	[[120176196, 120176494], [120178187, 120178324], [120180133, 120180295], [120186069, 120186136], [120187937, 120188073], [120189061, 120190040]]	None
ENST00000532663	[[120176352, 120176494], [120178187, 120178324], [120186069, 120186136], [120187937, 120188073]]	[[120176352, 120176494], [120178187, 120178324], [120186069, 120186136], [120187937, 120188073]]
ENST00000529039	[[120187874, 120188073], [120189061, 120189896]]	None
NM_001244682	[[120107348, 120107416], [120117157, 120117226], [120139918, 120139953], [120168973, 120169099], [120170332, 120170435], [120172994, 120173077], [120175738, 120175921], [120176352, 120176494], [120178187, 120178324], [120180133, 120180295], [120186069, 120186136], [120187937, 120188073], [120189061, 120190653]]	[[120107382, 120107416], [120117157, 120117226], [120139918, 120139953], [120168973, 120169099], [120170332, 120170435], [120172994, 120173077], [120175738, 120175921], [120176352, 120176494], [120178187, 120178324], [120180133, 120180295], [120186069, 120186136], [120187937, 120188073], [120189061, 120189101]]
NM_014352	[[120110902, 120111080], [120117157, 120117226], [120139918, 120139953], [120168973, 120169099], [120170332, 120170435], [120172994, 120173077], [120175738, 120175921], [120176352, 120176494], [120178187, 120178324], [120180133, 120180295], [120186069, 120186136], [120187937, 120188073], [120189061, 120190653]]	[[120111052, 120111080], [120117157, 120117226], [120139918, 120139953], [120168973, 120169099], [120170332, 120170435], [120172994, 120173077], [120175738, 120175921], [120176352, 120176494], [120178187, 120178324], [120180133, 120180295], [120186069, 120186136], [120187937, 120188073], [120189061, 120189101]]

Promoter

Chrom	Start	End	Description
chr11	120107344	120107351	CAGE_peak_1_at_POU2F3_5end
chr11	120110844	120110861	CAGE_peak_3_at_POU2F3_5end
chr11	120110863	120110908	CAGE_peak_2_at_POU2F3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I120237	120236672	120236981	0.74	[{'connected_gene': 'POU2F3', 'score': 555.86}, {'connected_gene': 'RNF26', 'score': 18.83}, {'connected_gene': 'LOC649133', 'score': 0.31}]
chr11	GH11I120236	120236589	120236648	1.02	[{'connected_gene': 'POU2F3', 'score': 550.77}, {'connected_gene': 'RNF26', 'score': 10.26}, {'connected_gene': 'OAF', 'score': 0.31}]
chr11	GH11I120240	120240158	120240217	0.73	[{'connected_gene': 'POU2F3', 'score': 550.77}, {'connected_gene': 'LOC649133', 'score': 0.31}]
chr11	GH11I120217	120217545	120222295	0.91	[{'connected_gene': 'POU2F3', 'score': 30.75}, {'connected_gene': 'TRIM29', 'score': 16.62}, {'connected_gene': 'ENSG00000176984', 'score': 12.0}, {'connected_gene': 'TMEM136', 'score': 10.55}, {'connected_gene': 'OAF', 'score': 5.57}]
chr11	GH11I120235	120235132	120235301	0.73	[{'connected_gene': 'POU2F3', 'score': 550.77}, {'connected_gene': 'OAF', 'score': 0.34}]
chr11	GH11I120280	120280050	120282139	0.86	[{'connected_gene': 'POU2F3', 'score': 16.87}, {'connected_gene': 'TMEM136', 'score': 11.39}, {'connected_gene': 'TRIM29', 'score': 11.25}, {'connected_gene': 'ARHGEF12', 'score': 9.79}, {'connected_gene': 'LOC105369520', 'score': 9.7}, {'connected_gene': 'GC11P120275', 'score': 0.44}, {'connected_gene': 'LOC105369531', 'score': 0.39}]
chr11	GH11I120316	120316174	120318115	1.03	[{'connected_gene': 'POU2F3', 'score': 16.46}, {'connected_gene': 'TMEM136', 'score': 6.5}, {'connected_gene': 'GC11P120299', 'score': 0.37}]
chr11	GH11I120318	120318192	120318341	0.4	[{'connected_gene': 'POU2F3', 'score': 11.3}, {'connected_gene': 'TMEM136', 'score': 0.44}, {'connected_gene': 'GC11P120299', 'score': 0.37}]
chr11	GH11I120301	120301421	120307512	1.03	[{'connected_gene': 'POU2F3', 'score': 7.29}, {'connected_gene': 'GC11P120299', 'score': 0.44}, {'connected_gene': 'TMEM136', 'score': 0.34}]
chr11	GH11I120181	120181821	120190865	1.34	[{'connected_gene': 'TRIM29', 'score': 560.61}, {'connected_gene': 'RNF26', 'score': 22.72}, {'connected_gene': 'OAF', 'score': 18.11}, {'connected_gene': 'POU2F3', 'score': 12.1}, {'connected_gene': 'ENSG00000176984', 'score': 5.28}, {'connected_gene': 'LOC105369530', 'score': 0.77}]
chr11	GH11I120310	120310972	120311121	0.31	[{'connected_gene': 'TRIM29', 'score': 10.53}, {'connected_gene': 'ARHGEF12', 'score': 10.11}, {'connected_gene': 'GC11P120299', 'score': 0.39}, {'connected_gene': 'TMEM136', 'score': 0.39}, {'connected_gene': 'POU2F3', 'score': 0.19}]
chr11	GH11I120215	120215381	120216373	1.1	[{'connected_gene': 'TRIM29', 'score': 12.36}, {'connected_gene': 'ENSG00000176984', 'score': 11.97}, {'connected_gene': 'TMEM136', 'score': 10.55}, {'connected_gene': 'POU2F3', 'score': 4.6}, {'connected_gene': 'OAF', 'score': 0.44}]
chr11	GH11I120207	120207704	120214633	2.49	[{'connected_gene': 'OAF', 'score': 561.03}, {'connected_gene': 'POU2F3', 'score': 29.09}, {'connected_gene': 'TRIM29', 'score': 20.21}, {'connected_gene': 'ENSG00000176984', 'score': 11.94}, {'connected_gene': 'ARHGEF12', 'score': 1.87}, {'connected_gene': 'GRIK4', 'score': 1.25}]
chr11	GH11I120294	120294692	120295506	0.6	[{'connected_gene': 'LOC105369531', 'score': 0.77}, {'connected_gene': 'GC11P120299', 'score': 0.77}, {'connected_gene': 'POU2F3', 'score': 0.22}]
chr11	GH11I120192	120192732	120194043	1.06	[{'connected_gene': 'ENSG00000176984', 'score': 12.75}, {'connected_gene': 'POU2F3', 'score': 12.13}, {'connected_gene': 'OAF', 'score': 10.26}, {'connected_gene': 'LOC105369530', 'score': 0.77}]
chr11	GH11I120249	120248732	120248741	0.74	[{'connected_gene': 'ENSG00000176984', 'score': 11.24}, {'connected_gene': 'TRIM29', 'score': 10.98}, {'connected_gene': 'TMEM136', 'score': 10.52}, {'connected_gene': 'ARHGEF12', 'score': 10.0}, {'connected_gene': 'POU2F3', 'score': 0.39}, {'connected_gene': 'LOC649133', 'score': 0.37}]
chr11	GH11I120248	120248772	120248881	0.77	[{'connected_gene': 'ENSG00000176984', 'score': 11.4}, {'connected_gene': 'TRIM29', 'score': 10.98}, {'connected_gene': 'TMEM136', 'score': 10.63}, {'connected_gene': 'ARHGEF12', 'score': 10.0}, {'connected_gene': 'RNU6-1123P', 'score': 9.28}, {'connected_gene': 'POU2F3', 'score': 0.39}, {'connected_gene': 'LOC649133', 'score': 0.37}]
chr11	GH11I120224	120224401	120226989	0.96	[{'connected_gene': 'ENSG00000176984', 'score': 12.49}, {'connected_gene': 'OAF', 'score': 6.36}, {'connected_gene': 'POU2F3', 'score': 0.39}]
chr11	GH11I120255	120255083	120255931	0.54	[{'connected_gene': 'ENSG00000176984', 'score': 11.39}, {'connected_gene': 'TMEM136', 'score': 10.65}, {'connected_gene': 'POU2F3', 'score': 5.69}, {'connected_gene': 'LOC649133', 'score': 0.39}]
chr11	GH11I120299	120299801	120300001	0.62	[{'connected_gene': 'GC11P120299', 'score': 550.77}, {'connected_gene': 'TMEM136', 'score': 0.34}, {'connected_gene': 'POU2F3', 'score': 0.21}]
chr11	GH11I120300	120300072	120300261	0.67	[{'connected_gene': 'GC11P120299', 'score': 550.77}, {'connected_gene': 'TMEM136', 'score': 0.34}, {'connected_gene': 'POU2F3', 'score': 0.21}]