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
ENST00000358290	[[88257761, 88258518], [88261641, 88261758], [88278430, 88278568], [88293860, 88293967], [88295850, 88295982], [88303406, 88303514], [88312012, 88312538]]	[[88258427, 88258518], [88261641, 88261758], [88278430, 88278568], [88293860, 88293967], [88295850, 88295982], [88303406, 88303514], [88312012, 88312222]]
ENST00000507518	[[88258101, 88258518], [88261641, 88261758], [88278430, 88278568], [88293860, 88293967], [88294366, 88294430]]	None
ENST00000512344	[[88258200, 88258518], [88261641, 88261758], [88278430, 88278568], [88287084, 88287152]]	None
ENST00000502576	[[88258363, 88258518], [88261641, 88261758], [88278430, 88278568], [88293860, 88293967], [88295512, 88295566]]	None
ENST00000507286	[[88258426, 88258518], [88261641, 88261758], [88278430, 88278568], [88293860, 88293967], [88303406, 88303514], [88312012, 88312301]]	[[88258427, 88258518], [88261641, 88261758], [88278430, 88278568], [88293860, 88293967], [88303406, 88303514], [88312012, 88312222]]
ENST00000513854	[[88261462, 88261758], [88278430, 88278568], [88287084, 88287219]]	None
ENST00000508413	[[88295973, 88295982], [88303406, 88303514], [88306941, 88307059], [88312012, 88312340]]	None
NM_016245	[[88257673, 88258518], [88261641, 88261758], [88278430, 88278568], [88293860, 88293967], [88295850, 88295982], [88303406, 88303514], [88312012, 88312455]]	[[88258427, 88258518], [88261641, 88261758], [88278430, 88278568], [88293860, 88293967], [88295850, 88295982], [88303406, 88303514], [88312012, 88312222]]

Promoter

Chrom	Start	End	Description
chr4	88312184	88312225	CAGE_peak_2_at_HSD17B11_5end
chr4	88312301	88312375	CAGE_peak_1_at_HSD17B11_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I087506	87506310	87508383	0.63	[{'connected_gene': 'SPARCL1', 'score': 19.19}, {'connected_gene': 'HSD17B11', 'score': 6.78}, {'connected_gene': 'HSD17B13', 'score': 5.98}, {'connected_gene': 'LOC105377322', 'score': 0.39}, {'connected_gene': 'LOC105377321', 'score': 0.28}]
chr4	GH04I087502	87502729	87502858	0.76	[{'connected_gene': 'SPARCL1', 'score': 10.12}, {'connected_gene': 'HSD17B11', 'score': 6.77}, {'connected_gene': 'HSD17B13', 'score': 5.55}, {'connected_gene': 'LOC105377322', 'score': 0.37}, {'connected_gene': 'LOC105377321', 'score': 0.29}]
chr4	GH04I087482	87482169	87483090	0.2	[{'connected_gene': 'SPARCL1', 'score': 16.45}, {'connected_gene': 'HSD17B11', 'score': 10.33}, {'connected_gene': 'ENSG00000272856', 'score': 8.07}, {'connected_gene': 'LOC105377321', 'score': 0.39}, {'connected_gene': 'LOC105377322', 'score': 0.28}]
chr4	GH04I087508	87508992	87510152	0.31	[{'connected_gene': 'SPARCL1', 'score': 17.8}, {'connected_gene': 'ENSG00000272856', 'score': 7.81}, {'connected_gene': 'HSD17B13', 'score': 7.36}, {'connected_gene': 'HSD17B11', 'score': 5.62}, {'connected_gene': 'LOC105377322', 'score': 0.39}, {'connected_gene': 'LOC105377321', 'score': 0.26}]
chr4	GH04I087209	87209001	87210400	1.06	[{'connected_gene': 'KLHL8', 'score': 7.52}, {'connected_gene': 'AFF1', 'score': 6.19}, {'connected_gene': 'HSD17B13', 'score': 4.65}, {'connected_gene': 'HSD17B11', 'score': 1.5}, {'connected_gene': 'GAPDHP60', 'score': 0.77}, {'connected_gene': 'GC04P087226', 'score': 0.37}]
chr4	GH04I087418	87418707	87424290	2.1	[{'connected_gene': 'NUDT9', 'score': 561.04}, {'connected_gene': 'GC04M087420', 'score': 550.77}, {'connected_gene': 'HSD17B11', 'score': 20.91}, {'connected_gene': 'RPL6P13', 'score': 13.78}, {'connected_gene': 'LOC100129693', 'score': 0.39}]
chr4	GH04I087374	87374649	87376963	0.96	[{'connected_gene': 'NUDT9', 'score': 19.45}, {'connected_gene': 'HSD17B11', 'score': 7.01}, {'connected_gene': 'HSD17B13', 'score': 5.05}, {'connected_gene': 'RN7SL681P', 'score': 0.39}, {'connected_gene': 'ENSG00000255723', 'score': 0.29}]
chr4	GH04I087384	87384891	87384998	0.2	[{'connected_gene': 'NUDT9', 'score': 12.31}, {'connected_gene': 'HSD17B13', 'score': 5.64}, {'connected_gene': 'RN7SL681P', 'score': 0.77}, {'connected_gene': 'HSD17B11', 'score': 0.44}, {'connected_gene': 'ENSG00000255723', 'score': 0.28}]
chr4	GH04I087388	87388320	87392447	2.28	[{'connected_gene': 'HSD17B11', 'score': 567.11}, {'connected_gene': 'NUDT9', 'score': 22.03}, {'connected_gene': 'RPL6P13', 'score': 19.18}, {'connected_gene': 'HSD17B13', 'score': 5.86}, {'connected_gene': 'AFF1', 'score': 1.44}, {'connected_gene': 'RN7SL681P', 'score': 0.77}]
chr4	GH04I087086	87086801	87088200	0.86	[{'connected_gene': 'AFF1', 'score': 9.5}, {'connected_gene': 'HSD17B11', 'score': 1.25}, {'connected_gene': 'LOC105377320', 'score': 0.34}, {'connected_gene': 'GC04P087116', 'score': 0.31}]
chr4	GH04I086924	86924009	86929148	1.55	[{'connected_gene': 'AFF1', 'score': 4.68}, {'connected_gene': 'HSD17B11', 'score': 1.2}, {'connected_gene': 'AFF1-AS1', 'score': 0.44}, {'connected_gene': 'C4orf36', 'score': 0.44}, {'connected_gene': 'LOC260422', 'score': 0.39}]
chr4	GH04I086907	86907170	86909368	1.15	[{'connected_gene': 'AFF1', 'score': 13.18}, {'connected_gene': 'AFF1-AS1', 'score': 12.1}, {'connected_gene': 'C4orf36', 'score': 12.1}, {'connected_gene': 'LOC260422', 'score': 5.69}, {'connected_gene': 'HSD17B11', 'score': 1.36}, {'connected_gene': 'GC04P086879', 'score': 0.31}]
chr4	GH04I087354	87354400	87354600	0.31	[{'connected_gene': 'HSD17B13', 'score': 11.84}, {'connected_gene': 'NUDT9', 'score': 10.82}, {'connected_gene': 'ENSG00000255723', 'score': 0.44}, {'connected_gene': 'RN7SL681P', 'score': 0.29}, {'connected_gene': 'HSD17B11', 'score': 0.28}]
chr4	GH04I087368	87368238	87369114	0.2	[{'connected_gene': 'HSD17B13', 'score': 20.83}, {'connected_gene': 'HSD17B11', 'score': 14.27}, {'connected_gene': 'NUDT9', 'score': 11.4}, {'connected_gene': 'RN7SL681P', 'score': 0.37}, {'connected_gene': 'ENSG00000255723', 'score': 0.34}]
chr4	GH04I087342	87342389	87342538	0.38	[{'connected_gene': 'HSD17B13', 'score': 8.4}, {'connected_gene': 'ENSG00000255723', 'score': 0.77}, {'connected_gene': 'HSD17B11', 'score': 0.25}]
chr4	GH04I087843	87843741	87844784	0.87	[{'connected_gene': 'SPP1', 'score': 21.08}, {'connected_gene': 'MEPE', 'score': 11.47}, {'connected_gene': 'PKD2', 'score': 10.2}, {'connected_gene': 'HSD17B11', 'score': 1.63}, {'connected_gene': 'HSP90AB3P', 'score': 0.25}]
chr4	GH04I087849	87849573	87850200	0.88	[{'connected_gene': 'SPP1', 'score': 22.2}, {'connected_gene': 'IBSP', 'score': 4.58}, {'connected_gene': 'HSD17B11', 'score': 1.87}, {'connected_gene': 'MEPE', 'score': 0.31}, {'connected_gene': 'HSP90AB3P', 'score': 0.26}]
chr4	GH04I086918	86918065	86920334	1.26	[{'connected_gene': 'LOC260422', 'score': 10.77}, {'connected_gene': 'HSD17B11', 'score': 1.41}, {'connected_gene': 'AFF1-AS1', 'score': 0.37}, {'connected_gene': 'C4orf36', 'score': 0.37}, {'connected_gene': 'AFF1', 'score': 0.37}]
chr4	GH04I087386	87386905	87387639	0.46	[{'connected_gene': 'RN7SL681P', 'score': 550.77}, {'connected_gene': 'NUDT9', 'score': 12.31}, {'connected_gene': 'HSD17B11', 'score': 0.77}]
chr4	GH04I087235	87235062	87236600	0.94	[{'connected_gene': 'AFF1-AS1', 'score': 9.83}, {'connected_gene': 'C4orf36', 'score': 9.83}, {'connected_gene': 'AFF1', 'score': 9.82}, {'connected_gene': 'HSD17B11', 'score': 6.76}, {'connected_gene': 'KLHL8', 'score': 0.77}, {'connected_gene': 'GC04P087226', 'score': 0.44}]
chr4	GH04I087406	87406401	87407200	0.49	[{'connected_gene': 'LOC100129693', 'score': 0.77}, {'connected_gene': 'HSD17B11', 'score': 0.37}]
chr4	GH04I087408	87408821	87410736	0.88	[{'connected_gene': 'LOC100129693', 'score': 550.77}, {'connected_gene': 'HSD17B13', 'score': 6.21}, {'connected_gene': 'NUDT9', 'score': 5.46}, {'connected_gene': 'HSD17B11', 'score': 0.37}]
chr4	GH04I087352	87352801	87353000	0.2	[{'connected_gene': 'ENSG00000255723', 'score': 0.44}, {'connected_gene': 'RN7SL681P', 'score': 0.29}, {'connected_gene': 'HSD17B11', 'score': 0.28}]