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
ENST00000474490	[[139236275, 139236522], [139237262, 139237477]]	None
ENST00000232219	[[139236275, 139236522], [139237262, 139237364], [139257622, 139257801], [139258301, 139258671]]	[[139236468, 139236522], [139237262, 139237364], [139257622, 139257801], [139258301, 139258560]]
ENST00000483943	[[139243248, 139244744], [139257622, 139257801], [139258301, 139258561]]	[[139244720, 139244744], [139257622, 139257801]]
ENST00000487424	[[139244540, 139244744], [139257162, 139257801], [139258301, 139258530]]	[[139257577, 139257801], [139258301, 139258530]]
ENST00000492918	[[139245246, 139246184], [139257622, 139257801], [139258301, 139258671]]	[[139246148, 139246184], [139257622, 139257801], [139258301, 139258560]]
NM_002899	[[139236275, 139236522], [139237262, 139237364], [139257622, 139257801], [139258301, 139258671]]	[[139236468, 139236522], [139237262, 139237364], [139257622, 139257801], [139258301, 139258560]]
NM_001130993	[[139244626, 139244744], [139257622, 139257801], [139258301, 139258671]]	[[139244720, 139244744], [139257622, 139257801], [139258301, 139258560]]
NM_001130992	[[139245246, 139246184], [139257622, 139257801], [139258301, 139258671]]	[[139246148, 139246184], [139257622, 139257801], [139258301, 139258560]]

Promoter

Chrom	Start	End	Description
chr3	139258363	139258374	CAGE_peak_4_at_RBP1_5end
chr3	139258382	139258393	CAGE_peak_5_at_RBP1_5end
chr3	139258420	139258434	CAGE_peak_3_at_RBP1_5end
chr3	139258443	139258485	CAGE_peak_1_at_RBP1_5end
chr3	139258521	139258589	CAGE_peak_2_at_RBP1_5end
chr3	139258825	139258837	CAGE_peak_8_at_RBP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I138593	138593077	138595448	2.23	[{'connected_gene': 'CEP70', 'score': 555.98}, {'connected_gene': 'FAIM', 'score': 17.53}, {'connected_gene': 'RBP1', 'score': 4.45}, {'connected_gene': 'GC03M138521', 'score': 0.21}]
chr3	GH03I139517	139517306	139518556	0.2	[{'connected_gene': 'ACTG1P1', 'score': 12.01}, {'connected_gene': 'ENSG00000272656', 'score': 5.0}, {'connected_gene': 'GC03M139507', 'score': 0.77}, {'connected_gene': 'RBP1', 'score': 0.34}, {'connected_gene': 'LOC100507291', 'score': 0.13}]
chr3	GH03I139531	139531274	139541929	2.34	[{'connected_gene': 'RBP1', 'score': 563.55}, {'connected_gene': 'COPB2', 'score': 19.45}, {'connected_gene': 'ENSG00000272656', 'score': 10.64}, {'connected_gene': 'LOC100507291', 'score': 9.75}, {'connected_gene': 'MRPS22', 'score': 4.1}, {'connected_gene': 'GC03M139507', 'score': 0.34}]
chr3	GH03I139548	139547736	139550309	0.58	[{'connected_gene': 'RBP1', 'score': 8.92}, {'connected_gene': 'ACTG1P1', 'score': 4.96}, {'connected_gene': 'GC03P139562', 'score': 0.39}, {'connected_gene': 'LOC100507291', 'score': 0.1}]
chr3	GH03I139572	139572601	139573300	0.38	[{'connected_gene': 'RBP1', 'score': 6.58}, {'connected_gene': 'GC03P139562', 'score': 0.39}, {'connected_gene': 'ENSG00000214280', 'score': 0.39}, {'connected_gene': 'NMNAT3', 'score': 0.14}, {'connected_gene': 'LOC100507291', 'score': 0.09}]
chr3	GH03I139559	139559056	139560432	0.6	[{'connected_gene': 'RBP1', 'score': 11.1}, {'connected_gene': 'ENSG00000272656', 'score': 8.67}, {'connected_gene': 'GC03P139562', 'score': 0.77}, {'connected_gene': 'NMNAT3', 'score': 0.13}, {'connected_gene': 'LOC100507291', 'score': 0.1}]
chr3	GH03I139542	139542617	139543121	0.2	[{'connected_gene': 'RBP1', 'score': 9.2}, {'connected_gene': 'GC03P139562', 'score': 0.37}, {'connected_gene': 'LOC100507291', 'score': 0.1}]
chr3	GH03I139552	139552608	139553288	0.51	[{'connected_gene': 'RBP1', 'score': 11.53}, {'connected_gene': 'ENSG00000272656', 'score': 7.78}, {'connected_gene': 'GC03P139562', 'score': 0.44}, {'connected_gene': 'LOC100507291', 'score': 0.1}]
chr3	GH03I139543	139543493	139543645	0.2	[{'connected_gene': 'RBP1', 'score': 0.77}, {'connected_gene': 'GC03P139562', 'score': 0.37}, {'connected_gene': 'LOC100507291', 'score': 0.1}]
chr3	GH03I139554	139554103	139554367	0.2	[{'connected_gene': 'RBP1', 'score': 11.13}, {'connected_gene': 'GC03P139562', 'score': 0.44}, {'connected_gene': 'LOC100507291', 'score': 0.1}]
chr3	GH03I139388	139388036	139391197	2.04	[{'connected_gene': 'LOC100507291', 'score': 550.77}, {'connected_gene': 'COPB2', 'score': 550.77}, {'connected_gene': 'ENSG00000283418', 'score': 550.77}, {'connected_gene': 'ENSG00000272656', 'score': 17.69}, {'connected_gene': 'MRPS22', 'score': 5.87}, {'connected_gene': 'RBP1', 'score': 4.66}]
chr3	GH03I139338	139338422	139341057	0.92	[{'connected_gene': 'ENSG00000272656', 'score': 16.85}, {'connected_gene': 'COPB2', 'score': 11.02}, {'connected_gene': 'LOC100507291', 'score': 11.0}, {'connected_gene': 'MRPS22', 'score': 5.54}, {'connected_gene': 'RBP1', 'score': 4.64}, {'connected_gene': 'PIR46128', 'score': 0.19}]
chr3	GH03I139504	139504853	139507818	0.59	[{'connected_gene': 'ENSG00000272656', 'score': 16.64}, {'connected_gene': 'ACTG1P1', 'score': 11.63}, {'connected_gene': 'RBP1', 'score': 5.76}, {'connected_gene': 'GC03M139507', 'score': 0.44}, {'connected_gene': 'PIR33826', 'score': 0.44}, {'connected_gene': 'LOC100507291', 'score': 0.13}]
chr3	GH03I139519	139519526	139520833	0.76	[{'connected_gene': 'ENSG00000272656', 'score': 12.45}, {'connected_gene': 'RBP1', 'score': 5.18}, {'connected_gene': 'ACTG1P1', 'score': 5.13}, {'connected_gene': 'GC03M139507', 'score': 0.44}, {'connected_gene': 'LOC100507291', 'score': 0.12}]
chr3	GH03I139530	139530745	139531060	0.31	[{'connected_gene': 'ENSG00000272656', 'score': 5.88}, {'connected_gene': 'RBP1', 'score': 0.44}, {'connected_gene': 'GC03M139507', 'score': 0.37}, {'connected_gene': 'LOC100507291', 'score': 0.11}]
chr3	GH03I139547	139547058	139547563	0.2	[{'connected_gene': 'ENSG00000272656', 'score': 8.31}, {'connected_gene': 'RBP1', 'score': 0.44}, {'connected_gene': 'GC03P139562', 'score': 0.39}, {'connected_gene': 'LOC100507291', 'score': 0.1}]
chr3	GH03I139553	139553567	139553994	0.2	[{'connected_gene': 'GC03P139562', 'score': 0.44}, {'connected_gene': 'RBP1', 'score': 0.39}, {'connected_gene': 'LOC100507291', 'score': 0.1}]