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
ENST00000297641	[[15553004, 15553300], [15563975, 15564127], [15571621, 15571757], [15578846, 15579021], [15591363, 15591554], [15594038, 15594170], [15623264, 15623411], [15657124, 15657217], [15666160, 15666321], [15678755, 15678894], [15695232, 15695335], [15721766, 15721873], [15723678, 15723744], [15724773, 15724974], [15727866, 15728034], [15729607, 15729796], [15744270, 15744775], [15745512, 15745629], [15777597, 15777824], [15778965, 15779148], [15784506, 15784692], [15846699, 15846845], [15848890, 15848945], [15874529, 15874661], [15883071, 15883161]]	[[15564086, 15564127], [15571621, 15571757], [15578846, 15579021], [15591363, 15591554], [15594038, 15594170], [15623264, 15623411], [15657124, 15657217], [15666160, 15666321], [15678755, 15678894], [15695232, 15695335], [15721766, 15721873], [15723678, 15723744], [15724773, 15724974], [15727866, 15728034], [15729607, 15729796], [15744270, 15744775], [15745512, 15745629], [15777597, 15777824], [15778965, 15779148], [15784506, 15784692], [15846699, 15846845], [15848890, 15848945], [15874529, 15874661], [15883071, 15883161]]
ENST00000380701	[[15553083, 15553300], [15563975, 15564127], [15571621, 15571757], [15578846, 15579021], [15591363, 15591554], [15594038, 15594170], [15623264, 15623411], [15657124, 15657217], [15666160, 15666321], [15678755, 15678894], [15695232, 15695335], [15721766, 15721873], [15723678, 15723744], [15724773, 15724974], [15727866, 15728034], [15729607, 15729796], [15744270, 15744775], [15745512, 15745629], [15777597, 15777824], [15778965, 15779148], [15784506, 15784692], [15846699, 15846845], [15848890, 15848945], [15874529, 15874661], [15920267, 15920420], [15971606, 15974037]]	[[15564086, 15564127], [15571621, 15571757], [15578846, 15579021], [15591363, 15591554], [15594038, 15594170], [15623264, 15623411], [15657124, 15657217], [15666160, 15666321], [15678755, 15678894], [15695232, 15695335], [15721766, 15721873], [15723678, 15723744], [15724773, 15724974], [15727866, 15728034], [15729607, 15729796], [15744270, 15744775], [15745512, 15745629], [15777597, 15777824], [15778965, 15779148], [15784506, 15784692], [15846699, 15846845], [15848890, 15848945], [15874529, 15874661], [15920267, 15920420], [15971606, 15971834]]
ENST00000535968	[[15552894, 15552958], [15563975, 15564127], [15571621, 15571757], [15578846, 15579021], [15591363, 15591554], [15594038, 15594170], [15623264, 15623411], [15657124, 15660144]]	[[15564086, 15564127], [15571621, 15571757], [15578846, 15579021], [15591363, 15591554], [15594038, 15594170], [15623264, 15623411], [15657124, 15657256]]
ENST00000449575	[[15744502, 15744775], [15745512, 15745629], [15777597, 15777824], [15778965, 15779148], [15784506, 15784692], [15846699, 15846845], [15848890, 15848945], [15874529, 15874661], [15883071, 15883189], [15885511, 15885586], [15885687, 15886803]]	[[15744502, 15744775], [15745512, 15745629], [15777597, 15777824], [15778965, 15779148], [15784506, 15784692], [15846699, 15846845], [15848890, 15848945], [15874529, 15874661], [15883071, 15883161]]
ENST00000432954	[[15777765, 15777824], [15778965, 15779148], [15784506, 15784692], [15846699, 15846845], [15848890, 15848945], [15874529, 15876081]]	[[15777765, 15777824], [15778965, 15779148], [15784506, 15784692], [15846699, 15846845], [15848890, 15848945], [15874529, 15874673]]
ENST00000470191	[[15845636, 15845699], [15846699, 15846845], [15848890, 15848945], [15874529, 15874661], [15920267, 15920420], [15971606, 15971895]]	None
ENST00000498725	[[15850223, 15850309], [15874529, 15874661], [15920267, 15920420], [15971606, 15971733]]	None
ENST00000486641	[[15874538, 15874661], [15920267, 15920420], [15922108, 15922200], [16020586, 16020792], [16022329, 16022583], [16022736, 16022906], [16035454, 16035523], [16036090, 16036204], [16042795, 16042918], [16060643, 16061661]]	None
ENST00000474193	[[15553288, 15553604], [15563975, 15564022]]	None
ENST00000472806	[[15887792, 15888086], [15888980, 15889099], [15920267, 15920332]]	None
ENST00000478913	[[16042795, 16042884], [16060643, 16061318]]	None
NM_173550	[[15553004, 15553300], [15563975, 15564127], [15571621, 15571757], [15578846, 15579021], [15591363, 15591554], [15594038, 15594170], [15623264, 15623411], [15657124, 15657217], [15666160, 15666321], [15678755, 15678894], [15695232, 15695335], [15721766, 15721873], [15723678, 15723744], [15724773, 15724974], [15727866, 15728034], [15729607, 15729796], [15744270, 15744775], [15745512, 15745629], [15777597, 15777824], [15778965, 15779148], [15784506, 15784692], [15846699, 15846845], [15848890, 15848945], [15874529, 15874661], [15920267, 15920420], [15971606, 15974037]]	[[15564086, 15564127], [15571621, 15571757], [15578846, 15579021], [15591363, 15591554], [15594038, 15594170], [15623264, 15623411], [15657124, 15657217], [15666160, 15666321], [15678755, 15678894], [15695232, 15695335], [15721766, 15721873], [15723678, 15723744], [15724773, 15724974], [15727866, 15728034], [15729607, 15729796], [15744270, 15744775], [15745512, 15745629], [15777597, 15777824], [15778965, 15779148], [15784506, 15784692], [15846699, 15846845], [15848890, 15848945], [15874529, 15874661], [15920267, 15920420], [15971606, 15971834]]
NM_001348002	[[15553004, 15553300], [15563975, 15564127], [15571621, 15571757], [15578846, 15579021], [15587529, 15587691], [15591363, 15591554], [15594038, 15594170], [15623264, 15623411], [15657124, 15657217], [15666160, 15666321], [15678755, 15678894], [15695232, 15695335], [15721766, 15721873], [15723654, 15723744], [15724773, 15724974], [15727866, 15728034], [15729607, 15729796], [15744270, 15744775], [15745512, 15745629], [15777597, 15777824], [15778965, 15779148], [15784506, 15784692], [15846699, 15846845], [15848890, 15848945], [15874529, 15874661], [15920267, 15920420], [15971606, 15974037]]	[[15587618, 15587691], [15591363, 15591554], [15594038, 15594170], [15623264, 15623411], [15657124, 15657217], [15666160, 15666321], [15678755, 15678894], [15695232, 15695335], [15721766, 15721873], [15723654, 15723744], [15724773, 15724974], [15727866, 15728034], [15729607, 15729796], [15744270, 15744775], [15745512, 15745629], [15777597, 15777824], [15778965, 15779148], [15784506, 15784692], [15846699, 15846845], [15848890, 15848945], [15874529, 15874661], [15920267, 15920420], [15971606, 15971834]]

Promoter

Chrom	Start	End	Description
chr9	15552504	15552550	CAGE_peak_13_at_C9orf93_5end
chr9	15552867	15552907	CAGE_peak_4_at_C9orf93_5end
chr9	15553000	15553054	CAGE_peak_1_at_C9orf93_5end
chr9	15553055	15553101	CAGE_peak_3_at_C9orf93_5end
chr9	15553450	15553483	CAGE_peak_6_at_C9orf93_5end
chr9	15553484	15553501	CAGE_peak_8_at_C9orf93_5end
chr9	15553507	15553513	CAGE_peak_15_at_C9orf93_5end
chr9	15850201	15850216	CAGE_peak_5_at_C9orf93_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I015583	15583569	15585181	0.38	[{'connected_gene': 'CCDC171', 'score': 24.46}, {'connected_gene': 'HMGN2P16', 'score': 0.77}, {'connected_gene': 'GC09M015564', 'score': 0.39}]
chr9	GH09I015399	15399953	15402167	0.49	[{'connected_gene': 'CCDC171', 'score': 5.17}, {'connected_gene': 'SNAPC3', 'score': 0.34}, {'connected_gene': 'RPL7P33', 'score': 0.28}]
chr9	GH09I015551	15551787	15554626	2.03	[{'connected_gene': 'CCDC171', 'score': 563.42}, {'connected_gene': 'LOC389705', 'score': 11.44}, {'connected_gene': 'PSIP1', 'score': 11.1}, {'connected_gene': 'ENSG00000272871', 'score': 9.72}, {'connected_gene': 'GC09M015564', 'score': 0.37}]
chr9	GH09I015388	15388215	15391860	0.2	[{'connected_gene': 'CCDC171', 'score': 6.84}, {'connected_gene': 'RPL7P33', 'score': 0.31}, {'connected_gene': 'SNAPC3', 'score': 0.29}]
chr9	GH09I015532	15532703	15533584	0.59	[{'connected_gene': 'CCDC171', 'score': 12.04}, {'connected_gene': 'FTH1P12', 'score': 0.44}, {'connected_gene': 'GC09P015547', 'score': 0.39}]
chr9	GH09I015606	15606783	15606932	0.52	[{'connected_gene': 'CCDC171', 'score': 12.73}, {'connected_gene': 'PSIP1', 'score': 11.39}, {'connected_gene': 'HMGN2P16', 'score': 0.37}, {'connected_gene': 'GC09M015596', 'score': 0.18}]
chr9	GH09I015734	15734772	15735983	0.59	[{'connected_gene': 'CCDC171', 'score': 15.09}, {'connected_gene': 'GC09M015777', 'score': 0.26}, {'connected_gene': 'RNU6-14P', 'score': 0.26}, {'connected_gene': 'GC09M015596', 'score': 0.25}]
chr9	GH09I015973	15972046	15972510	0.4	[{'connected_gene': 'CCDC171', 'score': 7.41}, {'connected_gene': 'GC09P015957', 'score': 0.39}, {'connected_gene': 'GC09P016216', 'score': 0.07}]
chr9	GH09I015999	15999243	16000732	0.99	[{'connected_gene': 'CCDC171', 'score': 4.18}, {'connected_gene': 'GC09P015957', 'score': 0.26}, {'connected_gene': 'GC09P016216', 'score': 0.08}]
chr9	GH09I016011	16011605	16013661	0.38	[{'connected_gene': 'CCDC171', 'score': 12.92}, {'connected_gene': 'GC09P015957', 'score': 0.22}, {'connected_gene': 'GC09P016216', 'score': 0.08}]
chr9	GH09I016043	16043672	16045683	0.51	[{'connected_gene': 'CCDC171', 'score': 10.26}, {'connected_gene': 'GC09P015957', 'score': 0.17}, {'connected_gene': 'GC09P016216', 'score': 0.09}]
chr9	GH09I016023	16023394	16024211	0.51	[{'connected_gene': 'CCDC171', 'score': 13.61}, {'connected_gene': 'GC09P015957', 'score': 0.2}, {'connected_gene': 'GC09P016216', 'score': 0.08}]
chr9	GH09I016009	16009828	16011260	0.31	[{'connected_gene': 'CCDC171', 'score': 10.78}, {'connected_gene': 'GC09P015957', 'score': 0.23}, {'connected_gene': 'GC09P016216', 'score': 0.08}]
chr9	GH09I016061	16061879	16064360	1.1	[{'connected_gene': 'CCDC171', 'score': 5.04}, {'connected_gene': 'GC09P015957', 'score': 0.14}, {'connected_gene': 'GC09P016216', 'score': 0.1}]
chr9	GH09I016039	16039108	16041544	1.04	[{'connected_gene': 'CCDC171', 'score': 11.72}, {'connected_gene': 'GC09P015957', 'score': 0.18}, {'connected_gene': 'GC09P016216', 'score': 0.1}]
chr9	GH09I016028	16028111	16033482	0.93	[{'connected_gene': 'CCDC171', 'score': 12.57}, {'connected_gene': 'GC09P015957', 'score': 0.19}, {'connected_gene': 'GC09P016216', 'score': 0.09}]
chr9	GH09I016068	16068458	16071088	0.54	[{'connected_gene': 'CCDC171', 'score': 5.16}, {'connected_gene': 'GC09P015957', 'score': 0.14}, {'connected_gene': 'GC09P016216', 'score': 0.11}]
chr9	GH09I015508	15508114	15514050	2.25	[{'connected_gene': 'PSIP1', 'score': 558.28}, {'connected_gene': 'CCDC171', 'score': 7.78}, {'connected_gene': 'SNAPC3', 'score': 7.23}, {'connected_gene': 'ENSG00000278754', 'score': 0.39}]
chr9	GH09I015527	15527401	15527800	0.76	[{'connected_gene': 'RN7SL98P', 'score': 550.77}, {'connected_gene': 'PIR44810', 'score': 550.77}, {'connected_gene': 'GC09P015529', 'score': 550.77}, {'connected_gene': 'GC09M015546', 'score': 550.77}, {'connected_gene': 'FTH1P12', 'score': 550.77}, {'connected_gene': 'CCDC171', 'score': 8.46}]
chr9	GH09I016057	16057476	16059211	0.58	[{'connected_gene': 'GC09P015957', 'score': 0.15}, {'connected_gene': 'GC09P016216', 'score': 0.1}, {'connected_gene': 'CCDC171', 'score': 0.03}]
chr9	GH09I015872	15872550	15872836	0.4	[{'connected_gene': 'GC09M015849', 'score': 0.34}, {'connected_gene': 'GC09P015851', 'score': 0.34}, {'connected_gene': 'GC09M015920', 'score': 0.25}, {'connected_gene': 'CCDC171', 'score': 0.06}]
chr9	GH09I015935	15935843	15936906	1.26	[{'connected_gene': 'GC09P015935', 'score': 550.77}, {'connected_gene': 'CCDC171', 'score': 13.87}, {'connected_gene': 'GC09P015957', 'score': 0.34}]
chr9	GH09I016000	16000923	16001072	0.4	[{'connected_gene': 'GC09P015957', 'score': 0.26}, {'connected_gene': 'GC09P016216', 'score': 0.08}, {'connected_gene': 'CCDC171', 'score': 0.05}]
chr9	GH09I015874	15874186	15874530	0.71	[{'connected_gene': 'GC09M015849', 'score': 0.34}, {'connected_gene': 'GC09P015851', 'score': 0.34}, {'connected_gene': 'GC09M015920', 'score': 0.25}, {'connected_gene': 'CCDC171', 'score': 0.05}]
chr9	GH09I016025	16025513	16025886	0.22	[{'connected_gene': 'GC09P015957', 'score': 0.2}, {'connected_gene': 'GC09P016216', 'score': 0.08}, {'connected_gene': 'CCDC171', 'score': 0.04}]
chr9	GH09I015972	15972698	15973112	0.4	[{'connected_gene': 'GC09P015957', 'score': 0.37}, {'connected_gene': 'GC09P016216', 'score': 0.07}, {'connected_gene': 'CCDC171', 'score': 0.05}]
chr9	GH09I015696	15696888	15698208	0.66	[{'connected_gene': 'GC09M015596', 'score': 0.39}, {'connected_gene': 'GC09M015777', 'score': 0.18}, {'connected_gene': 'RNU6-14P', 'score': 0.18}, {'connected_gene': 'CCDC171', 'score': 0.11}]
chr9	GH09I015777	15777002	15777249	0.4	[{'connected_gene': 'GC09M015777', 'score': 550.77}, {'connected_gene': 'RNU6-14P', 'score': 550.77}, {'connected_gene': 'GC09P015851', 'score': 0.19}, {'connected_gene': 'CCDC171', 'score': 0.07}]
chr9	GH09I015728	15728038	15728379	0.4	[{'connected_gene': 'GC09M015596', 'score': 0.26}, {'connected_gene': 'GC09M015777', 'score': 0.25}, {'connected_gene': 'RNU6-14P', 'score': 0.25}, {'connected_gene': 'CCDC171', 'score': 0.1}]
chr9	GH09I015843	15843498	15844161	0.4	[{'connected_gene': 'GC09P015851', 'score': 0.44}, {'connected_gene': 'GC09M015777', 'score': 0.2}, {'connected_gene': 'RNU6-14P', 'score': 0.2}, {'connected_gene': 'CCDC171', 'score': 0.06}]