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
ENST00000310961	[[70034080, 70034324], [70144063, 70144161], [70181824, 70181901], [70225873, 70226076], [70257725, 70257843], [70291430, 70291509], [70300462, 70300552], [70303909, 70303966], [70397189, 70397253], [70446061, 70446136], [70451924, 70452069], [70460243, 70460316], [70477479, 70477609], [70478656, 70478772], [70482147, 70482217], [70484401, 70484501], [70486687, 70486812], [70488808, 70489057], [70493853, 70494054], [70501803, 70501915], [70502126, 70502307], [70503795, 70505476], [70518708, 70518828], [70541759, 70541981], [70555409, 70555502], [70573434, 70573509], [70587462, 70589171]]	[[70181900, 70181901], [70225873, 70226076], [70257725, 70257843], [70291430, 70291509], [70300462, 70300552], [70303909, 70303966], [70397189, 70397253], [70446061, 70446136], [70451924, 70452069], [70460243, 70460316], [70477479, 70477609], [70478656, 70478772], [70482147, 70482217], [70484401, 70484501], [70486687, 70486812], [70488808, 70489057], [70493853, 70494054], [70501803, 70501915], [70502126, 70502307], [70503795, 70505476], [70518708, 70518828], [70541759, 70541981], [70555409, 70555502], [70573434, 70573509], [70587462, 70587570]]
ENST00000370958	[[70034132, 70034324], [70144063, 70144161], [70225873, 70226076], [70257725, 70257843], [70291430, 70291509], [70300462, 70300552], [70303909, 70303966], [70339149, 70340687]]	[[70034322, 70034324], [70144063, 70144161], [70225873, 70226076], [70257725, 70257843], [70291430, 70291509], [70300462, 70300552], [70303909, 70303966], [70339149, 70339156]]
ENST00000035383	[[70225857, 70226076], [70257725, 70257843], [70291430, 70291509], [70300462, 70300552], [70303909, 70303966], [70397189, 70397253], [70446061, 70446136], [70451924, 70452069], [70460243, 70460316], [70477479, 70477609], [70478656, 70478772], [70482147, 70482217], [70484401, 70484501], [70486687, 70486812], [70488808, 70489057], [70493853, 70494054], [70501803, 70501915], [70502126, 70502307], [70503795, 70505476], [70509636, 70509777], [70518708, 70518828], [70541759, 70541981], [70555409, 70555502], [70573434, 70573509], [70587462, 70587926]]	[[70225887, 70226076], [70257725, 70257843], [70291430, 70291509], [70300462, 70300552], [70303909, 70303966], [70397189, 70397253], [70446061, 70446136], [70451924, 70452069], [70460243, 70460316], [70477479, 70477609], [70478656, 70478772], [70482147, 70482217], [70484401, 70484501], [70486687, 70486812], [70488808, 70489057], [70493853, 70494054], [70501803, 70501915], [70502126, 70502307], [70503795, 70505476], [70509636, 70509777], [70518708, 70518828], [70541759, 70541981], [70555409, 70555502], [70573434, 70573509], [70587462, 70587570]]
ENST00000415775	[[70225869, 70226076], [70257725, 70257843], [70291430, 70291509], [70300462, 70300552], [70303909, 70303966], [70397189, 70397253], [70446061, 70446136], [70451924, 70452069], [70460243, 70460316], [70477479, 70477609], [70478656, 70478772], [70482147, 70482217], [70484401, 70484501], [70486687, 70486812], [70503795, 70505476], [70509636, 70509777], [70518708, 70518828], [70541759, 70541981], [70555409, 70555502], [70573434, 70573509], [70587462, 70587677]]	[[70486786, 70486812], [70503795, 70505476], [70509636, 70509777], [70518708, 70518828], [70541759, 70541981], [70555409, 70555502], [70573434, 70573509], [70587462, 70587570]]
ENST00000588515	[[70573432, 70573509], [70587462, 70587553], [70594220, 70594478], [70603792, 70603967], [70607879, 70607936], [70613571, 70613688]]	[[70573432, 70573509], [70587462, 70587553], [70594220, 70594237]]
ENST00000609498	[[70587460, 70587553], [70594220, 70594478], [70595810, 70595939], [70603792, 70603967], [70607879, 70607936]]	[[70587460, 70587553], [70594220, 70594237]]
ENST00000608815	[[70587472, 70587553], [70594220, 70594478], [70595810, 70595939], [70597885, 70597971], [70603792, 70603967], [70607879, 70607936]]	[[70587472, 70587553], [70594220, 70594237]]
ENST00000608744	[[70587493, 70587553], [70594220, 70594478], [70603792, 70603967], [70606225, 70606297], [70607879, 70607936], [70612709, 70612879]]	[[70587493, 70587553], [70594220, 70594237]]
ENST00000609072	[[70594279, 70594478], [70595810, 70595939], [70597885, 70597971], [70603792, 70603967], [70606225, 70606297], [70607879, 70607936], [70612709, 70612879]]	None
ENST00000608470	[[70603814, 70603967], [70606031, 70606297], [70607879, 70607936]]	None
ENST00000607936	[[70603966, 70606297], [70607879, 70607936], [70612709, 70612760], [70613571, 70613688]]	None
ENST00000565615	[[70607064, 70610047]]	None
ENST00000441830	[[70612803, 70612878], [70613571, 70613688], [70617430, 70617628]]	None
NM_001330635	[[70032867, 70034324], [70144063, 70144161], [70181824, 70181901], [70225873, 70226076], [70257725, 70257843], [70291430, 70291509], [70300462, 70300552], [70303909, 70303966], [70397189, 70397253], [70446061, 70446136], [70451924, 70452069], [70460243, 70460316], [70477479, 70477609], [70478656, 70478772], [70482147, 70482217], [70484401, 70484501], [70486687, 70486812], [70488808, 70489057], [70493853, 70494054], [70501803, 70501915], [70502126, 70502307], [70503795, 70505476], [70518708, 70518828], [70541759, 70541981], [70555409, 70555502], [70573434, 70573509], [70587462, 70589171]]	[[70181900, 70181901], [70225873, 70226076], [70257725, 70257843], [70291430, 70291509], [70300462, 70300552], [70303909, 70303966], [70397189, 70397253], [70446061, 70446136], [70451924, 70452069], [70460243, 70460316], [70477479, 70477609], [70478656, 70478772], [70482147, 70482217], [70484401, 70484501], [70486687, 70486812], [70488808, 70489057], [70493853, 70494054], [70501803, 70501915], [70502126, 70502307], [70503795, 70505476], [70518708, 70518828], [70541759, 70541981], [70555409, 70555502], [70573434, 70573509], [70587462, 70587570]]
NM_020794	[[70225857, 70226076], [70257725, 70257843], [70291430, 70291509], [70300462, 70300552], [70303909, 70303966], [70397189, 70397253], [70446061, 70446136], [70451924, 70452069], [70460243, 70460316], [70477479, 70477609], [70478656, 70478772], [70482147, 70482217], [70484401, 70484501], [70486687, 70486812], [70488808, 70489057], [70493853, 70494054], [70501803, 70501915], [70502126, 70502307], [70503795, 70505476], [70509636, 70509777], [70518708, 70518828], [70541759, 70541981], [70555409, 70555502], [70573434, 70573509], [70587462, 70589171]]	[[70225887, 70226076], [70257725, 70257843], [70291430, 70291509], [70300462, 70300552], [70303909, 70303966], [70397189, 70397253], [70446061, 70446136], [70451924, 70452069], [70460243, 70460316], [70477479, 70477609], [70478656, 70478772], [70482147, 70482217], [70484401, 70484501], [70486687, 70486812], [70488808, 70489057], [70493853, 70494054], [70501803, 70501915], [70502126, 70502307], [70503795, 70505476], [70509636, 70509777], [70518708, 70518828], [70541759, 70541981], [70555409, 70555502], [70573434, 70573509], [70587462, 70587570]]

Promoter

Chrom	Start	End	Description
chr1	70032805	70032831	CAGE_peak_6_at_LRRC7_5end
chr1	70033001	70033027	CAGE_peak_3_at_LRRC7_5end
chr1	70033033	70033074	CAGE_peak_5_at_LRRC7_5end
chr1	70033076	70033083	CAGE_peak_13_at_LRRC7_5end
chr1	70033093	70033106	CAGE_peak_10_at_LRRC7_5end
chr1	70033108	70033121	CAGE_peak_8_at_LRRC7_5end
chr1	70033122	70033131	CAGE_peak_20_at_LRRC7_5end
chr1	70033216	70033247	CAGE_peak_9_at_LRRC7_5end
chr1	70033553	70033581	CAGE_peak_4_at_LRRC7_5end
chr1	70033589	70033627	CAGE_peak_1_at_LRRC7_5end
chr1	70033632	70033637	CAGE_peak_17_at_LRRC7_5end
chr1	70033647	70033678	CAGE_peak_7_at_LRRC7_5end
chr1	70033730	70033741	CAGE_peak_11_at_LRRC7_5end
chr1	70033759	70033766	CAGE_peak_18_at_LRRC7_5end
chr1	70033964	70033965	CAGE_peak_23_at_LRRC7_5end
chr1	70033971	70034019	CAGE_peak_2_at_LRRC7_5end
chr1	70034094	70034105	CAGE_peak_12_at_LRRC7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I069952	69952995	69953169	0.26	[{'connected_gene': 'LRRC7', 'score': 10.68}, {'connected_gene': 'PIN1P1', 'score': 0.29}, {'connected_gene': 'GC01M069988', 'score': 0.21}]
chr1	GH01I069741	69741611	69741672	0.22	[{'connected_gene': 'LRRC7', 'score': 6.4}, {'connected_gene': 'GC01M069696', 'score': 0.26}, {'connected_gene': 'RN7SL538P', 'score': 0.12}]
chr1	GH01I069773	69772204	69772441	0.22	[{'connected_gene': 'LRRC7', 'score': 5.46}, {'connected_gene': 'GC01M069696', 'score': 0.19}, {'connected_gene': 'RN7SL538P', 'score': 0.14}]
chr1	GH01I069772	69772967	69773111	0.22	[{'connected_gene': 'LRRC7', 'score': 5.51}, {'connected_gene': 'GC01M069696', 'score': 0.19}, {'connected_gene': 'RN7SL538P', 'score': 0.14}]
chr1	GH01I070042	70042219	70042905	0.77	[{'connected_gene': 'LRRC7', 'score': 8.01}, {'connected_gene': 'LOC105378792', 'score': 0.44}, {'connected_gene': 'GC01P070141', 'score': 0.15}]
chr1	GH01I069522	69522845	69524049	0.38	[{'connected_gene': 'LRRC7', 'score': 13.73}, {'connected_gene': 'LOC105378790', 'score': 0.29}, {'connected_gene': 'LOC105378789', 'score': 0.2}]
chr1	GH01I069539	69539990	69540429	0.9	[{'connected_gene': 'LRRC7', 'score': 22.04}, {'connected_gene': 'LOC105378790', 'score': 0.37}, {'connected_gene': 'LOC105378789', 'score': 0.17}]
chr1	GH01I069566	69566577	69568677	1.26	[{'connected_gene': 'LRRC7', 'score': 575.4}, {'connected_gene': 'LOC105378790', 'score': 0.44}]
chr1	GH01I069569	69569281	69570234	0.54	[{'connected_gene': 'LRRC7', 'score': 568.24}, {'connected_gene': 'SGO1P1', 'score': 0.28}]
chr1	GH01I069574	69574528	69574716	0.22	[{'connected_gene': 'LRRC7', 'score': 4.35}, {'connected_gene': 'SGO1P1', 'score': 0.29}]
chr1	GH01I069910	69910918	69911869	0.82	[{'connected_gene': 'PIN1P1', 'score': 0.44}, {'connected_gene': 'GC01M069885', 'score': 0.37}, {'connected_gene': 'LRRC7', 'score': 0.05}]
chr1	GH01I069913	69913119	69916025	0.69	[{'connected_gene': 'PIN1P1', 'score': 0.77}, {'connected_gene': 'GC01M069885', 'score': 0.34}, {'connected_gene': 'LRRC7', 'score': 0.05}]
chr1	GH01I069833	69833321	69834851	0.31	[{'connected_gene': 'RN7SL538P', 'score': 0.25}, {'connected_gene': 'GC01M069696', 'score': 0.12}, {'connected_gene': 'LRRC7', 'score': 0.06}]
chr1	GH01I069824	69824447	69825442	0.31	[{'connected_gene': 'RN7SL538P', 'score': 0.23}, {'connected_gene': 'GC01M069696', 'score': 0.13}, {'connected_gene': 'LRRC7', 'score': 0.07}]
chr1	GH01I070038	70038158	70038287	0.31	[{'connected_gene': 'LOC105378792', 'score': 550.77}, {'connected_gene': 'GC01P070141', 'score': 0.15}, {'connected_gene': 'LRRC7', 'score': 0.04}]
chr1	GH01I070043	70043918	70045717	0.7	[{'connected_gene': 'LOC105378792', 'score': 0.44}, {'connected_gene': 'GC01P070141', 'score': 0.15}, {'connected_gene': 'LRRC7', 'score': 0.04}]
chr1	GH01I070141	70141798	70142579	0.38	[{'connected_gene': 'GC01P070141', 'score': 550.77}, {'connected_gene': 'LRRC40', 'score': 5.25}, {'connected_gene': 'GC01P070166', 'score': 0.34}, {'connected_gene': 'LRRC7', 'score': 0.03}]
chr1	GH01I069765	69765659	69766745	0.38	[{'connected_gene': 'GC01M069696', 'score': 0.2}, {'connected_gene': 'RN7SL538P', 'score': 0.14}, {'connected_gene': 'LRRC7', 'score': 0.08}]
chr1	GH01I070140	70140270	70141442	0.76	[{'connected_gene': 'GC01P070141', 'score': 550.77}, {'connected_gene': 'LOC105378792', 'score': 0.15}, {'connected_gene': 'LRRC7', 'score': 0.03}]
chr1	GH01I070090	70090595	70091179	0.46	[{'connected_gene': 'GC01P070141', 'score': 0.23}, {'connected_gene': 'LOC105378792', 'score': 0.23}, {'connected_gene': 'LRRC7', 'score': 0.03}]
chr1	GH01I070133	70133200	70133400	0.74	[{'connected_gene': 'GC01P070141', 'score': 0.44}, {'connected_gene': 'LOC105378792', 'score': 0.15}, {'connected_gene': 'LRRC7', 'score': 0.03}]