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
ENST00000427025	[[138743179, 138745953], [138750847, 138750980], [138751529, 138754817], [138768137, 138768330], [138794442, 138794570], [138817355, 138817508], [138892846, 138893677]]	[[138745217, 138745953], [138750847, 138750980], [138751529, 138754817], [138768137, 138768330], [138794442, 138794570], [138817355, 138817508], [138892846, 138893048]]
ENST00000343505	[[138743707, 138745953], [138750847, 138750980], [138751529, 138754817], [138763119, 138763251], [138768137, 138768330], [138794442, 138794570], [138817355, 138817508], [138820369, 138820631]]	[[138745217, 138745953], [138750847, 138750980], [138751529, 138754817], [138763119, 138763251], [138768137, 138768330], [138794442, 138794570], [138817355, 138817508], [138820369, 138820427]]
ENST00000342260	[[138754644, 138754817], [138768137, 138768330], [138794442, 138794570], [138817355, 138817508], [138866759, 138866848]]	[[138754644, 138754817], [138768137, 138768330], [138794442, 138794570], [138817355, 138817508], [138866759, 138866775]]
ENST00000426841	[[138767926, 138768330], [138794442, 138794570], [138817355, 138817508], [138820369, 138820631]]	None
ENST00000491526	[[138768201, 138768330], [138794442, 138794570], [138817355, 138817508], [139013612, 139013708]]	[[138768201, 138768330], [138794442, 138794570], [138817355, 138817508], [139013612, 139013708]]
ENST00000533765	[[138768260, 138768330], [138794442, 138794570], [138817355, 138817508], [138833415, 138833632]]	[[138768260, 138768330], [138794442, 138794570], [138817355, 138817508], [138833415, 138833476]]
ENST00000479393	[[138791677, 138791731], [138794442, 138794570], [138817355, 138817508], [138820369, 138820505]]	None
ENST00000468095	[[138892835, 138893198], [139013612, 139013708]]	None
ENST00000534376	[[138892666, 138893198], [138893522, 138893599]]	None
NM_001144060	[[138743179, 138745953], [138750847, 138750980], [138751529, 138754817], [138763119, 138763251], [138768137, 138768330], [138794442, 138794570], [138817355, 138817508], [138820369, 138820579]]	[[138745217, 138745953], [138750847, 138750980], [138751529, 138754817], [138763119, 138763251], [138768137, 138768330], [138794442, 138794570], [138817355, 138817508], [138820369, 138820427]]
NM_020464	[[138743179, 138745953], [138750847, 138750980], [138751529, 138754817], [138768137, 138768330], [138794442, 138794570], [138817355, 138817508], [138892846, 138893668]]	[[138745217, 138745953], [138750847, 138750980], [138751529, 138754817], [138768137, 138768330], [138794442, 138794570], [138817355, 138817508], [138892846, 138893048]]

Promoter

Chrom	Start	End	Description
chr6	138744950	138744953	CAGE_peak_4_at_NHSL1_5end
chr6	138751931	138751940	CAGE_peak_46_at_NHSL1_5end
chr6	138752021	138752035	CAGE_peak_28_at_NHSL1_5end
chr6	138752074	138752086	CAGE_peak_48_at_NHSL1_5end
chr6	138752691	138752713	CAGE_peak_11_at_NHSL1_5end
chr6	138820515	138820531	CAGE_peak_8_at_NHSL1_5end
chr6	138820555	138820597	CAGE_peak_1_at_NHSL1_5end
chr6	138820604	138820610	CAGE_peak_20_at_NHSL1_5end
chr6	138820612	138820623	CAGE_peak_10_at_NHSL1_5end
chr6	138820624	138820654	CAGE_peak_5_at_NHSL1_5end
chr6	138820685	138820701	CAGE_peak_16_at_NHSL1_5end
chr6	138833630	138833677	CAGE_peak_13_at_NHSL1_5end
chr6	138866796	138866819	CAGE_peak_6_at_NHSL1_5end
chr6	138866823	138866851	CAGE_peak_3_at_NHSL1_5end
chr6	138866863	138866887	CAGE_peak_2_at_NHSL1_5end
chr6	138866920	138866921	CAGE_peak_26_at_NHSL1_5end
chr6	138893590	138893601	CAGE_peak_22_at_NHSL1_5end
chr6	138893629	138893641	CAGE_peak_24_at_NHSL1_5end
chr6	138893661	138893687	CAGE_peak_7_at_NHSL1_5end
chr6	138893690	138893714	CAGE_peak_9_at_NHSL1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I138483	138483853	138495567	1.23	[{'connected_gene': 'REPS1', 'score': 4.37}, {'connected_gene': 'ENSG00000274594', 'score': 0.31}, {'connected_gene': 'LOC100129577', 'score': 0.1}, {'connected_gene': 'NHSL1', 'score': 0.08}]
chr6	GH06I138515	138515304	138515453	0.46	[{'connected_gene': 'PERP', 'score': 10.45}, {'connected_gene': 'FLJ46906', 'score': 10.26}, {'connected_gene': 'NHSL1', 'score': 10.26}, {'connected_gene': 'ENSG00000274594', 'score': 0.23}, {'connected_gene': 'LOC100129577', 'score': 0.12}]
chr6	GH06I138514	138514944	138515123	0.4	[{'connected_gene': 'PERP', 'score': 10.45}, {'connected_gene': 'FLJ46906', 'score': 10.26}, {'connected_gene': 'NHSL1', 'score': 10.26}, {'connected_gene': 'ENSG00000274594', 'score': 0.23}, {'connected_gene': 'LOC100129577', 'score': 0.12}]
chr6	GH06I138521	138521783	138522200	0.58	[{'connected_gene': 'PERP', 'score': 10.88}, {'connected_gene': 'ENSG00000274594', 'score': 0.22}, {'connected_gene': 'LOC100129577', 'score': 0.13}, {'connected_gene': 'NHSL1', 'score': 0.09}]
chr6	GH06I138517	138517684	138517853	0.76	[{'connected_gene': 'PERP', 'score': 10.88}, {'connected_gene': 'ENSG00000274594', 'score': 0.23}, {'connected_gene': 'LOC100129577', 'score': 0.12}, {'connected_gene': 'NHSL1', 'score': 0.09}]
chr6	GH06I138522	138522401	138522800	0.31	[{'connected_gene': 'PERP', 'score': 10.88}, {'connected_gene': 'ENSG00000274594', 'score': 0.22}, {'connected_gene': 'LOC100129577', 'score': 0.13}, {'connected_gene': 'NHSL1', 'score': 0.09}]
chr6	GH06I138979	138979177	138979204	0.41	[{'connected_gene': 'NHSL1', 'score': 2.47}, {'connected_gene': 'REPS1', 'score': 0.44}, {'connected_gene': 'ENSG00000220600', 'score': 0.15}]
chr6	GH06I138496	138496456	138509800	2.14	[{'connected_gene': 'NHSL1', 'score': 562.67}, {'connected_gene': 'PERP', 'score': 10.14}, {'connected_gene': 'REPS1', 'score': 1.47}, {'connected_gene': 'ENSG00000274594', 'score': 0.28}, {'connected_gene': 'LOC100129577', 'score': 0.11}]
chr6	GH06I138569	138569722	138573213	2.61	[{'connected_gene': 'NHSL1', 'score': 557.45}, {'connected_gene': 'PBOV1', 'score': 2.54}, {'connected_gene': 'LOC100129577', 'score': 0.18}, {'connected_gene': 'ENSG00000274594', 'score': 0.14}]
chr6	GH06I138526	138526838	138528593	1.24	[{'connected_gene': 'NHSL1', 'score': 11.42}, {'connected_gene': 'ABRACL', 'score': 4.5}, {'connected_gene': 'ENSG00000274594', 'score': 0.21}, {'connected_gene': 'LOC100129577', 'score': 0.13}]
chr6	GH06I138188	138188390	138188492	0.64	[{'connected_gene': 'NHSL1', 'score': 3.72}, {'connected_gene': 'ARFGEF3', 'score': 0.31}, {'connected_gene': 'PBOV1', 'score': 0.29}]
chr6	GH06I138535	138535339	138548109	2.1	[{'connected_gene': 'NHSL1', 'score': 26.58}, {'connected_gene': 'FLJ46906', 'score': 15.04}, {'connected_gene': 'PERP', 'score': 9.83}, {'connected_gene': 'HEBP2', 'score': 4.75}, {'connected_gene': 'PBOV1', 'score': 2.4}, {'connected_gene': 'ENSG00000274594', 'score': 0.18}, {'connected_gene': 'LOC100129577', 'score': 0.14}]
chr6	GH06I138588	138588800	138589200	1	[{'connected_gene': 'NHSL1', 'score': 16.24}, {'connected_gene': 'FLJ46906', 'score': 11.51}, {'connected_gene': 'PERP', 'score': 10.38}, {'connected_gene': 'LOC100129577', 'score': 0.21}, {'connected_gene': 'ENSG00000274594', 'score': 0.13}]
chr6	GH06I138779	138779255	138779416	0.23	[{'connected_gene': 'NHSL1', 'score': 12.15}, {'connected_gene': 'FLJ46906', 'score': 10.3}, {'connected_gene': 'CCDC28A', 'score': 0.44}, {'connected_gene': 'GVQW2', 'score': 0.44}, {'connected_gene': 'ECT2L', 'score': 0.37}]
chr6	GH06I138600	138600249	138601696	0.56	[{'connected_gene': 'NHSL1', 'score': 15.29}, {'connected_gene': 'FLJ46906', 'score': 10.82}, {'connected_gene': 'LOC100129577', 'score': 0.23}, {'connected_gene': 'ENSG00000274594', 'score': 0.12}]
chr6	GH06I138548	138548341	138548696	0.4	[{'connected_gene': 'NHSL1', 'score': 28.52}, {'connected_gene': 'FLJ46906', 'score': 10.3}, {'connected_gene': 'ENSG00000274594', 'score': 0.18}, {'connected_gene': 'LOC100129577', 'score': 0.15}]
chr6	GH06I138549	138549572	138550913	1.1	[{'connected_gene': 'NHSL1', 'score': 27.65}, {'connected_gene': 'FLJ46906', 'score': 10.3}, {'connected_gene': 'ENSG00000274594', 'score': 0.17}, {'connected_gene': 'LOC100129577', 'score': 0.15}]
chr6	GH06I138454	138454195	138457325	1.21	[{'connected_gene': 'NHSL1', 'score': 5.39}, {'connected_gene': 'HEBP2', 'score': 5.36}, {'connected_gene': 'PBOV1', 'score': 3.94}, {'connected_gene': 'ENSG00000274594', 'score': 0.44}, {'connected_gene': 'MIR3145', 'score': 0.34}]
chr6	GH06I138426	138426031	138426951	0.2	[{'connected_gene': 'FLJ46906', 'score': 10.63}, {'connected_gene': 'NHSL1', 'score': 10.63}, {'connected_gene': 'PERP', 'score': 10.17}, {'connected_gene': 'HEBP2', 'score': 6.01}, {'connected_gene': 'MIR3145', 'score': 0.44}, {'connected_gene': 'PIR51373', 'score': 0.39}]
chr6	GH06I138429	138429064	138429253	0.66	[{'connected_gene': 'FLJ46906', 'score': 10.64}, {'connected_gene': 'NHSL1', 'score': 10.64}, {'connected_gene': 'PERP', 'score': 10.17}, {'connected_gene': 'MIR3145', 'score': 0.44}, {'connected_gene': 'PIR51373', 'score': 0.39}]
chr6	GH06I138559	138559789	138561758	0.98	[{'connected_gene': 'FLJ46906', 'score': 10.43}, {'connected_gene': 'NHSL1', 'score': 10.43}, {'connected_gene': 'PERP', 'score': 9.79}, {'connected_gene': 'LOC100129577', 'score': 0.16}, {'connected_gene': 'ENSG00000274594', 'score': 0.15}]
chr6	GH06I138661	138661890	138663443	0.72	[{'connected_gene': 'FLJ46906', 'score': 12.51}, {'connected_gene': 'NHSL1', 'score': 12.51}, {'connected_gene': 'PERP', 'score': 9.66}, {'connected_gene': 'LOC100129577', 'score': 0.39}]
chr6	GH06I138591	138591812	138596567	1.17	[{'connected_gene': 'FLJ46906', 'score': 23.09}, {'connected_gene': 'NHSL1', 'score': 17.37}, {'connected_gene': 'CCDC28A', 'score': 12.29}, {'connected_gene': 'PERP', 'score': 10.19}, {'connected_gene': 'LOC100129577', 'score': 0.22}, {'connected_gene': 'ENSG00000274594', 'score': 0.12}]
chr6	GH06I138655	138654001	138654400	0.31	[{'connected_gene': 'FLJ46906', 'score': 12.03}, {'connected_gene': 'NHSL1', 'score': 12.03}, {'connected_gene': 'LOC100129577', 'score': 0.77}]
chr6	GH06I138672	138672801	138673000	0.2	[{'connected_gene': 'FLJ46906', 'score': 0.37}, {'connected_gene': 'NHSL1', 'score': 0.37}, {'connected_gene': 'LOC100129577', 'score': 0.34}]
chr6	GH06I138673	138673201	138674000	0.8	[{'connected_gene': 'FLJ46906', 'score': 5.07}, {'connected_gene': 'NHSL1', 'score': 0.37}, {'connected_gene': 'LOC100129577', 'score': 0.34}]
chr6	GH06I138684	138684565	138686439	0.72	[{'connected_gene': 'FLJ46906', 'score': 0.44}, {'connected_gene': 'NHSL1', 'score': 0.44}, {'connected_gene': 'LOC100129577', 'score': 0.29}]
chr6	GH06I138653	138653584	138653733	0.31	[{'connected_gene': 'FLJ46906', 'score': 12.03}, {'connected_gene': 'NHSL1', 'score': 12.03}, {'connected_gene': 'LOC100129577', 'score': 0.77}]
chr6	GH06I138682	138682072	138684042	1.1	[{'connected_gene': 'FLJ46906', 'score': 6.88}, {'connected_gene': 'NHSL1', 'score': 0.44}, {'connected_gene': 'LOC100129577', 'score': 0.29}]
chr6	GH06I138554	138554681	138556393	1.23	[{'connected_gene': 'FLJ46906', 'score': 10.58}, {'connected_gene': 'NHSL1', 'score': 10.58}, {'connected_gene': 'ENSG00000274594', 'score': 0.16}, {'connected_gene': 'LOC100129577', 'score': 0.15}]
chr6	GH06I138646	138646912	138647522	0.2	[{'connected_gene': 'FLJ46906', 'score': 10.89}, {'connected_gene': 'NHSL1', 'score': 10.88}, {'connected_gene': 'LOC100129577', 'score': 0.77}, {'connected_gene': 'ENSG00000274594', 'score': 0.09}]
chr6	GH06I138654	138654460	138656280	1	[{'connected_gene': 'FLJ46906', 'score': 12.48}, {'connected_gene': 'NHSL1', 'score': 12.48}, {'connected_gene': 'LOC100129577', 'score': 0.77}]
chr6	GH06I138722	138722587	138724619	1.03	[{'connected_gene': 'FLJ46906', 'score': 16.39}, {'connected_gene': 'NHSL1', 'score': 12.01}, {'connected_gene': 'GC06P138738', 'score': 0.39}]
chr6	GH06I138689	138689591	138694064	1.67	[{'connected_gene': 'FLJ46906', 'score': 562.81}, {'connected_gene': 'NHSL1', 'score': 550.77}]
chr6	GH06I138590	138590984	138591153	0.79	[{'connected_gene': 'FLJ46906', 'score': 22.21}, {'connected_gene': 'CCDC28A', 'score': 12.29}, {'connected_gene': 'NHSL1', 'score': 12.21}, {'connected_gene': 'PERP', 'score': 10.19}, {'connected_gene': 'LOC100129577', 'score': 0.22}, {'connected_gene': 'ENSG00000274594', 'score': 0.13}]
chr6	GH06I138409	138409609	138412413	0.99	[{'connected_gene': 'HEBP2', 'score': 18.29}, {'connected_gene': 'PERP', 'score': 9.93}, {'connected_gene': 'FLJ46906', 'score': 9.66}, {'connected_gene': 'NHSL1', 'score': 9.66}, {'connected_gene': 'PIR51373', 'score': 0.77}, {'connected_gene': 'MARCKSL1P2', 'score': 0.44}]
chr6	GH06I138582	138582724	138582873	0.76	[{'connected_gene': 'CITED2', 'score': 11.74}, {'connected_gene': 'PERP', 'score': 11.16}, {'connected_gene': 'LOC100129577', 'score': 0.2}, {'connected_gene': 'NHSL1', 'score': 0.14}, {'connected_gene': 'ENSG00000274594', 'score': 0.13}]
chr6	GH06I138431	138431684	138431833	0.38	[{'connected_gene': 'MIR3145', 'score': 0.77}, {'connected_gene': 'PIR51373', 'score': 0.37}, {'connected_gene': 'NHSL1', 'score': 0.07}]
chr6	GH06I138563	138563824	138563973	0.46	[{'connected_gene': 'LOC100129577', 'score': 0.17}, {'connected_gene': 'ENSG00000274594', 'score': 0.15}, {'connected_gene': 'NHSL1', 'score': 0.13}]
chr6	GH06I138719	138719401	138720000	0.46	[{'connected_gene': 'GC06P138738', 'score': 0.37}, {'connected_gene': 'NHSL1', 'score': 0.31}]
chr6	GH06I138720	138719204	138719293	0.31	[{'connected_gene': 'GC06P138738', 'score': 0.37}, {'connected_gene': 'NHSL1', 'score': 0.31}]
chr6	GH06I138423	138423201	138423600	0.56	[{'connected_gene': 'PIR51373', 'score': 0.44}, {'connected_gene': 'MIR3145', 'score': 0.39}, {'connected_gene': 'NHSL1', 'score': 0.06}]
chr6	GH06I138480	138480091	138481470	0.2	[{'connected_gene': 'ENSG00000274594', 'score': 0.37}, {'connected_gene': 'LOC100129577', 'score': 0.09}, {'connected_gene': 'NHSL1', 'score': 0.08}]
chr6	GH06I138467	138467424	138469860	0.83	[{'connected_gene': 'ENSG00000274594', 'score': 0.77}, {'connected_gene': 'LOC100129577', 'score': 0.09}, {'connected_gene': 'NHSL1', 'score': 0.07}]
chr6	GH06I138478	138478060	138479587	0.94	[{'connected_gene': 'ENSG00000274594', 'score': 0.39}, {'connected_gene': 'LOC100129577', 'score': 0.09}, {'connected_gene': 'NHSL1', 'score': 0.08}]
chr6	GH06I138464	138464426	138466774	0.72	[{'connected_gene': 'ENSG00000274594', 'score': 550.77}, {'connected_gene': 'LOC100129577', 'score': 0.09}, {'connected_gene': 'NHSL1', 'score': 0.07}]
chr6	GH06I138476	138476102	138477671	0.72	[{'connected_gene': 'ENSG00000274594', 'score': 0.39}, {'connected_gene': 'LOC100129577', 'score': 0.09}, {'connected_gene': 'NHSL1', 'score': 0.08}]
chr6	GH06I138529	138529445	138529823	0.38	[{'connected_gene': 'ENSG00000274594', 'score': 0.2}, {'connected_gene': 'LOC100129577', 'score': 0.13}, {'connected_gene': 'NHSL1', 'score': 0.1}]