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
ENST00000580241	[[27277530, 27277712], [27280381, 27280426], [27367700, 27367808], [27371876, 27372025], [27379937, 27380151], [27380430, 27380613], [27381562, 27381709], [27382080, 27382239], [27382830, 27382906], [27383192, 27383701]]	None
ENST00000580383	[[27277637, 27277712], [27367700, 27367808], [27371876, 27372025], [27379937, 27380151], [27380430, 27380464]]	None
ENST00000583215	[[27277660, 27277712], [27280381, 27280426], [27337977, 27338164], [27367700, 27367808], [27371876, 27372025], [27379937, 27380151], [27380430, 27380613], [27381562, 27381709], [27382080, 27382239], [27382830, 27382906], [27383192, 27383701]]	None
ENST00000578748	[[27278877, 27279473], [27280381, 27280426], [27371876, 27372025]]	None
ENST00000577182	[[27279456, 27279494], [27280381, 27280426], [27337977, 27338164], [27371876, 27372025], [27379937, 27380151]]	None
ENST00000323372	[[27369917, 27370357], [27371876, 27372025], [27379937, 27380151], [27380430, 27380613], [27381562, 27381709], [27382080, 27382239], [27382830, 27382906], [27383192, 27384234]]	[[27370243, 27370357], [27371876, 27372025], [27379937, 27380151], [27380430, 27380613], [27381562, 27381709], [27382080, 27382239], [27382830, 27382906], [27383192, 27383323]]
ENST00000466889	[[27371235, 27371412], [27371876, 27372025], [27379937, 27380151], [27380430, 27380610]]	[[27371960, 27372025], [27379937, 27380151], [27380430, 27380610]]
ENST00000469082	[[27371268, 27371330], [27371876, 27372025], [27379937, 27380151], [27380430, 27380613], [27381562, 27381709], [27382080, 27382085]]	[[27371960, 27372025], [27379937, 27380151], [27380430, 27380613], [27381562, 27381709], [27382080, 27382085]]
ENST00000484308	[[27373657, 27373865], [27379937, 27380151], [27380430, 27380613], [27381562, 27381709], [27382080, 27382239], [27382830, 27382906], [27383192, 27383243]]	None
ENST00000419875	[[27378973, 27379029], [27379937, 27380151], [27380430, 27380678]]	None
NM_016518	[[27369917, 27370357], [27371876, 27372025], [27379937, 27380151], [27380430, 27380613], [27381562, 27381709], [27382080, 27382239], [27382830, 27382906], [27383192, 27384236]]	[[27370243, 27370357], [27371876, 27372025], [27379937, 27380151], [27380430, 27380613], [27381562, 27381709], [27382080, 27382239], [27382830, 27382906], [27383192, 27383323]]

Promoter

Chrom	Start	End	Description
chr17	27370003	27370010	CAGE_peak_7_at_PIPOX_5end
chr17	27370022	27370051	CAGE_peak_2_at_PIPOX_5end
chr17	27370124	27370133	CAGE_peak_8_at_PIPOX_5end
chr17	27370142	27370164	CAGE_peak_3_at_PIPOX_5end
chr17	27370165	27370225	CAGE_peak_1_at_PIPOX_5end
chr17	27370232	27370243	CAGE_peak_4_at_PIPOX_5end
chr17	27373732	27373743	CAGE_peak_5_at_PIPOX_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I028987	28987143	28987292	0.38	[{'connected_gene': 'TRAF4', 'score': 7.55}, {'connected_gene': 'SEZ6', 'score': 0.37}, {'connected_gene': 'PHF12', 'score': 0.28}, {'connected_gene': 'PIPOX', 'score': 0.28}]
chr17	GH17I029018	29018579	29020214	0.96	[{'connected_gene': 'TIAF1', 'score': 11.52}, {'connected_gene': 'MYO18A', 'score': 11.39}, {'connected_gene': 'PHF12', 'score': 10.86}, {'connected_gene': 'FLOT2', 'score': 9.89}, {'connected_gene': 'RAB34', 'score': 4.76}, {'connected_gene': 'NDUFS5P7', 'score': 0.77}, {'connected_gene': 'LOC105371716', 'score': 0.44}, {'connected_gene': 'PIPOX', 'score': 0.2}, {'connected_gene': 'GC17M029118', 'score': 0.06}]
chr17	GH17I029030	29030215	29030755	0.2	[{'connected_gene': 'TIAF1', 'score': 18.88}, {'connected_gene': 'MYO18A', 'score': 11.68}, {'connected_gene': 'SEZ6', 'score': 11.46}, {'connected_gene': 'PHF12', 'score': 11.25}, {'connected_gene': 'NDUFS5P7', 'score': 0.44}, {'connected_gene': 'PIPOX', 'score': 0.18}, {'connected_gene': 'GC17M029118', 'score': 0.06}]
chr17	GH17I029037	29037351	29041483	1.34	[{'connected_gene': 'TIAF1', 'score': 20.58}, {'connected_gene': 'MYO18A', 'score': 17.3}, {'connected_gene': 'SEZ6', 'score': 11.74}, {'connected_gene': 'TAOK1', 'score': 1.66}, {'connected_gene': 'NDUFS5P7', 'score': 0.37}, {'connected_gene': 'PIPOX', 'score': 0.17}, {'connected_gene': 'GC17M029118', 'score': 0.06}]
chr17	GH17I029045	29045671	29046672	1.05	[{'connected_gene': 'TIAF1', 'score': 21.24}, {'connected_gene': 'MYO18A', 'score': 11.75}, {'connected_gene': 'NDUFS5P7', 'score': 0.34}, {'connected_gene': 'PIPOX', 'score': 0.15}, {'connected_gene': 'GC17M029118', 'score': 0.07}]
chr17	GH17I028944	28944905	28953772	2.57	[{'connected_gene': 'PHF12', 'score': 594.3}, {'connected_gene': 'PIPOX', 'score': 550.77}, {'connected_gene': 'SUPT6H', 'score': 55.98}, {'connected_gene': 'NUFIP2', 'score': 55.55}, {'connected_gene': 'ENSG00000264577', 'score': 54.5}, {'connected_gene': 'ENSG00000265908', 'score': 34.21}, {'connected_gene': 'ENSG00000265205', 'score': 34.14}, {'connected_gene': 'SDF2', 'score': 32.89}, {'connected_gene': 'TMEM199', 'score': 30.97}, {'connected_gene': 'RPL23A', 'score': 30.09}, {'connected_gene': 'ENSG00000264290', 'score': 10.11}, {'connected_gene': 'MYO18A', 'score': 5.48}, {'connected_gene': 'SPAG5', 'score': 4.91}]
chr17	GH17I028972	28972083	28973426	0.38	[{'connected_gene': 'PHF12', 'score': 0.34}, {'connected_gene': 'PIPOX', 'score': 0.34}, {'connected_gene': 'SEZ6', 'score': 0.29}]
chr17	GH17I028973	28973563	28973712	0.46	[{'connected_gene': 'PHF12', 'score': 0.34}, {'connected_gene': 'PIPOX', 'score': 0.34}, {'connected_gene': 'SEZ6', 'score': 0.29}]
chr17	GH17I028956	28956223	28956372	0.31	[{'connected_gene': 'PHF12', 'score': 0.77}, {'connected_gene': 'PIPOX', 'score': 0.44}, {'connected_gene': 'SEZ6', 'score': 0.23}]
chr17	GH17I029041	29041683	29044306	1.87	[{'connected_gene': 'PIPOX', 'score': 550.16}, {'connected_gene': 'ENSG00000264044', 'score': 39.36}, {'connected_gene': 'TIAF1', 'score': 21.15}, {'connected_gene': 'SUPT6H', 'score': 19.29}, {'connected_gene': 'PHF12', 'score': 11.96}, {'connected_gene': 'MYO18A', 'score': 11.75}, {'connected_gene': 'SEZ6', 'score': 11.6}, {'connected_gene': 'SGK494', 'score': 11.21}, {'connected_gene': 'TMEM199', 'score': 10.5}, {'connected_gene': 'ERAL1', 'score': 9.89}, {'connected_gene': 'ERVE-1', 'score': 4.05}, {'connected_gene': 'NDUFS5P7', 'score': 0.34}, {'connected_gene': 'GC17M029118', 'score': 0.07}]
chr17	GH17I029016	29016787	29017993	0.51	[{'connected_gene': 'MYO18A', 'score': 16.04}, {'connected_gene': 'TIAF1', 'score': 11.51}, {'connected_gene': 'PHF12', 'score': 10.86}, {'connected_gene': 'FLOT2', 'score': 9.89}, {'connected_gene': 'PROCA1', 'score': 5.78}, {'connected_gene': 'NDUFS5P7', 'score': 0.77}, {'connected_gene': 'LOC105371716', 'score': 0.77}, {'connected_gene': 'PIPOX', 'score': 0.2}, {'connected_gene': 'GC17M029118', 'score': 0.06}]
chr17	GH17I029031	29031544	29033850	0.66	[{'connected_gene': 'MYO18A', 'score': 21.29}, {'connected_gene': 'TIAF1', 'score': 17.37}, {'connected_gene': 'SEZ6', 'score': 11.61}, {'connected_gene': 'PHF12', 'score': 11.24}, {'connected_gene': 'PROCA1', 'score': 4.46}, {'connected_gene': 'NDUFS5P7', 'score': 0.39}, {'connected_gene': 'PIPOX', 'score': 0.18}, {'connected_gene': 'GC17M029118', 'score': 0.06}]
chr17	GH17I029047	29047705	29050442	1.02	[{'connected_gene': 'MYO18A', 'score': 23.97}, {'connected_gene': 'TIAF1', 'score': 21.07}, {'connected_gene': 'NDUFS5P7', 'score': 0.31}, {'connected_gene': 'PIPOX', 'score': 0.15}, {'connected_gene': 'GC17M029118', 'score': 0.07}]
chr17	GH17I028985	28985817	28987127	0.46	[{'connected_gene': 'PROCA1', 'score': 4.83}, {'connected_gene': 'SEZ6', 'score': 0.37}, {'connected_gene': 'PHF12', 'score': 0.29}, {'connected_gene': 'PIPOX', 'score': 0.28}]
chr17	GH17I029034	29034755	29035138	0.57	[{'connected_gene': 'SEZ6', 'score': 11.76}, {'connected_gene': 'TIAF1', 'score': 11.63}, {'connected_gene': 'MYO18A', 'score': 11.48}, {'connected_gene': 'NDUFS5P7', 'score': 0.39}, {'connected_gene': 'PIPOX', 'score': 0.18}, {'connected_gene': 'GC17M029118', 'score': 0.06}]
chr17	GH17I029036	29036643	29036732	0.43	[{'connected_gene': 'SEZ6', 'score': 11.74}, {'connected_gene': 'TIAF1', 'score': 11.63}, {'connected_gene': 'MYO18A', 'score': 11.48}, {'connected_gene': 'NDUFS5P7', 'score': 0.39}, {'connected_gene': 'PIPOX', 'score': 0.17}, {'connected_gene': 'GC17M029118', 'score': 0.06}]
chr17	GH17I029008	29006003	29006112	1.44	[{'connected_gene': 'SEZ6', 'score': 550.77}, {'connected_gene': 'PHF12', 'score': 0.23}, {'connected_gene': 'PIPOX', 'score': 0.22}, {'connected_gene': 'GC17M029118', 'score': 0.06}]
chr17	GH17I028969	28969276	28969473	0.56	[{'connected_gene': 'SEZ6', 'score': 12.33}, {'connected_gene': 'PHF12', 'score': 0.37}, {'connected_gene': 'PIPOX', 'score': 0.37}]
chr17	GH17I028981	28981351	28984513	1.44	[{'connected_gene': 'SEZ6', 'score': 550.34}, {'connected_gene': 'PHF12', 'score': 0.29}, {'connected_gene': 'PIPOX', 'score': 0.29}]
chr17	GH17I029006	29006305	29006364	1.06	[{'connected_gene': 'SEZ6', 'score': 550.77}, {'connected_gene': 'PHF12', 'score': 0.23}, {'connected_gene': 'PIPOX', 'score': 0.22}, {'connected_gene': 'GC17M029118', 'score': 0.06}]
chr17	GH17I028965	28965703	28965852	0.69	[{'connected_gene': 'SEZ6', 'score': 12.32}, {'connected_gene': 'PHF12', 'score': 0.39}, {'connected_gene': 'PIPOX', 'score': 0.37}]
chr17	GH17I028967	28967118	28969263	0.92	[{'connected_gene': 'SEZ6', 'score': 12.33}, {'connected_gene': 'ENSG00000264577', 'score': 4.54}, {'connected_gene': 'PHF12', 'score': 0.37}, {'connected_gene': 'PIPOX', 'score': 0.37}]
chr17	GH17I029007	29007390	29008500	0.63	[{'connected_gene': 'SEZ6', 'score': 550.77}, {'connected_gene': 'ENSG00000263613', 'score': 0.77}, {'connected_gene': 'PIPOX', 'score': 0.22}, {'connected_gene': 'GC17M029118', 'score': 0.06}]
chr17	GH17I029010	29010696	29010852	0.51	[{'connected_gene': 'ENSG00000263613', 'score': 550.77}, {'connected_gene': 'SEZ6', 'score': 0.77}, {'connected_gene': 'PIPOX', 'score': 0.21}, {'connected_gene': 'GC17M029118', 'score': 0.06}]