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
ENST00000302219	[[88224940, 88226460], [88231394, 88231511], [88234974, 88235112], [88236644, 88236751], [88238243, 88238375], [88243783, 88244038]]	[[88226369, 88226460], [88231394, 88231511], [88234974, 88235112], [88236644, 88236751], [88238243, 88238375], [88243783, 88243993]]
ENST00000328546	[[88224940, 88226460], [88231394, 88231511], [88234974, 88235112], [88236644, 88236751], [88238243, 88238375], [88239480, 88239588], [88243783, 88244058]]	[[88226369, 88226460], [88231394, 88231511], [88234974, 88235112], [88236644, 88236751], [88238243, 88238375], [88239480, 88239588], [88243783, 88243993]]
NM_178135	[[88224940, 88226460], [88231394, 88231511], [88234974, 88235112], [88236644, 88236751], [88238243, 88238375], [88239480, 88239588], [88243783, 88244058]]	[[88226369, 88226460], [88231394, 88231511], [88234974, 88235112], [88236644, 88236751], [88238243, 88238375], [88239480, 88239588], [88243783, 88243993]]
NM_001136230	[[88224940, 88226460], [88231394, 88231511], [88234974, 88235112], [88236644, 88236751], [88238243, 88238375], [88243783, 88244058]]	[[88226369, 88226460], [88231394, 88231511], [88234974, 88235112], [88236644, 88236751], [88238243, 88238375], [88243783, 88243993]]

Promoter

Chrom	Start	End	Description
chr4	88243997	88244009	CAGE_peak_3_at_HSD17B13_5end
chr4	88244010	88244045	CAGE_peak_1_at_HSD17B13_5end
chr4	88244049	88244073	CAGE_peak_2_at_HSD17B13_5end
chr4	88244078	88244087	CAGE_peak_4_at_HSD17B13_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I087511	87511826	87518663	0.38	[{'connected_gene': 'SPARCL1', 'score': 10.18}, {'connected_gene': 'DMP1', 'score': 10.12}, {'connected_gene': 'HSD17B13', 'score': 6.01}, {'connected_gene': 'ENSG00000272856', 'score': 5.71}, {'connected_gene': 'LOC105377322', 'score': 0.44}, {'connected_gene': 'LOC105377321', 'score': 0.25}]
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	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	GH04I087491	87491870	87495100	0.46	[{'connected_gene': 'SPARCL1', 'score': 19.27}, {'connected_gene': 'DSPP', 'score': 9.8}, {'connected_gene': 'ENSG00000272856', 'score': 7.38}, {'connected_gene': 'HSD17B13', 'score': 4.41}, {'connected_gene': 'LOC105377322', 'score': 0.31}, {'connected_gene': 'LOC105377321', 'score': 0.31}]
chr4	GH04I086585	86585023	86588141	1.08	[{'connected_gene': 'PTPN13', 'score': 27.14}, {'connected_gene': 'MAPK10', 'score': 7.15}, {'connected_gene': 'HSD17B13', 'score': 4.37}, {'connected_gene': 'MIR4452', 'score': 0.26}]
chr4	GH04I086508	86508077	86509035	0.51	[{'connected_gene': 'PTPN13', 'score': 37.76}, {'connected_gene': 'MAPK10', 'score': 17.13}, {'connected_gene': 'SLC10A6', 'score': 10.48}, {'connected_gene': 'HSD17B13', 'score': 4.35}, {'connected_gene': 'LOC260422', 'score': 4.18}, {'connected_gene': 'MIR4452', 'score': 0.29}, {'connected_gene': 'RN7SKP96', 'score': 0.09}]
chr4	GH04I086479	86479608	86485204	1.07	[{'connected_gene': 'PTPN13', 'score': 33.21}, {'connected_gene': 'MAPK10', 'score': 15.9}, {'connected_gene': 'SLC10A6', 'score': 10.44}, {'connected_gene': 'HSD17B13', 'score': 4.32}, {'connected_gene': 'MIR4452', 'score': 0.21}, {'connected_gene': 'RN7SKP96', 'score': 0.11}]
chr4	GH04I086592	86592232	86597097	2.19	[{'connected_gene': 'PTPN13', 'score': 577.4}, {'connected_gene': 'MAPK10', 'score': 555.39}, {'connected_gene': 'LOC100419572', 'score': 10.04}, {'connected_gene': 'LOC260422', 'score': 5.48}, {'connected_gene': 'HSD17B13', 'score': 4.38}, {'connected_gene': 'GC04P086608', 'score': 0.39}]
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	GH04I087143	87143651	87145220	0.38	[{'connected_gene': 'KLHL8', 'score': 11.06}, {'connected_gene': 'AFF1', 'score': 8.53}, {'connected_gene': 'HSD17B13', 'score': 6.6}, {'connected_gene': 'LOC100419572', 'score': 0.34}, {'connected_gene': 'GC04P087116', 'score': 0.31}]
chr4	GH04I087219	87219000	87221401	2.02	[{'connected_gene': 'KLHL8', 'score': 558.85}, {'connected_gene': 'HSD17B13', 'score': 8.68}, {'connected_gene': 'GC04P087226', 'score': 0.44}, {'connected_gene': 'GAPDHP60', '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	GH04I087004	87004506	87016400	2.75	[{'connected_gene': 'AFF1', 'score': 580.5}, {'connected_gene': 'RPL6P13', 'score': 23.73}, {'connected_gene': 'C4orf36', 'score': 12.76}, {'connected_gene': 'AFF1-AS1', 'score': 12.76}, {'connected_gene': 'LOC100419572', 'score': 11.49}, {'connected_gene': 'LOC260422', 'score': 8.55}, {'connected_gene': 'MAPK10', 'score': 8.0}, {'connected_gene': 'HSD17B13', 'score': 6.06}, {'connected_gene': 'SLC10A6', 'score': 4.15}, {'connected_gene': 'GC04P087042', 'score': 0.29}, {'connected_gene': 'PIR55151', 'score': 0.26}, {'connected_gene': 'GC04P086967', 'score': 0.26}]
chr4	GH04I087068	87068033	87070061	0.62	[{'connected_gene': 'AFF1', 'score': 7.55}, {'connected_gene': 'HSD17B13', 'score': 5.51}, {'connected_gene': 'MAPK10', 'score': 5.36}, {'connected_gene': 'SLC10A6', 'score': 4.4}, {'connected_gene': 'LOC105377320', 'score': 0.77}, {'connected_gene': 'GC04P087116', 'score': 0.25}]
chr4	GH04I086976	86976350	86979214	1.37	[{'connected_gene': 'AFF1', 'score': 6.55}, {'connected_gene': 'LOC260422', 'score': 6.53}, {'connected_gene': 'HSD17B13', 'score': 6.06}, {'connected_gene': 'PIR55151', 'score': 0.39}, {'connected_gene': 'GC04P086967', 'score': 0.39}, {'connected_gene': 'GC04P087042', 'score': 0.21}]
chr4	GH04I087017	87017539	87020486	1.29	[{'connected_gene': 'AFF1', 'score': 20.64}, {'connected_gene': 'C4orf36', 'score': 11.62}, {'connected_gene': 'AFF1-AS1', 'score': 11.62}, {'connected_gene': 'LOC260422', 'score': 8.27}, {'connected_gene': 'HSD17B13', 'score': 5.97}, {'connected_gene': 'SLC10A6', 'score': 4.15}, {'connected_gene': 'GC04P087042', 'score': 0.34}, {'connected_gene': 'PIR55151', 'score': 0.23}, {'connected_gene': 'GC04P086967', 'score': 0.23}]
chr4	GH04I087101	87101795	87109471	1.41	[{'connected_gene': 'AFF1', 'score': 20.32}, {'connected_gene': 'AFF1-AS1', 'score': 11.21}, {'connected_gene': 'C4orf36', 'score': 11.21}, {'connected_gene': 'MAPK10', 'score': 6.24}, {'connected_gene': 'ENSG00000250572', 'score': 5.59}, {'connected_gene': 'HSD17B13', 'score': 5.1}, {'connected_gene': 'GC04P087116', 'score': 0.39}, {'connected_gene': 'LOC105377320', 'score': 0.26}]
chr4	GH04I087060	87060513	87061991	0.87	[{'connected_gene': 'AFF1', 'score': 18.5}, {'connected_gene': 'AFF1-AS1', 'score': 11.76}, {'connected_gene': 'C4orf36', 'score': 11.76}, {'connected_gene': 'ENSG00000250572', 'score': 6.03}, {'connected_gene': 'HSD17B13', 'score': 5.8}, {'connected_gene': 'LOC105377320', 'score': 0.77}, {'connected_gene': 'GC04M087042', 'score': 0.37}]
chr4	GH04I087070	87070480	87071510	0.2	[{'connected_gene': 'AFF1', 'score': 11.69}, {'connected_gene': 'AFF1-AS1', 'score': 11.68}, {'connected_gene': 'C4orf36', 'score': 11.68}, {'connected_gene': 'HSD17B13', 'score': 5.51}, {'connected_gene': 'LOC105377320', 'score': 0.44}, {'connected_gene': 'GC04P087116', 'score': 0.25}]
chr4	GH04I087118	87118551	87122728	1.15	[{'connected_gene': 'AFF1', 'score': 19.28}, {'connected_gene': 'AFF1-AS1', 'score': 11.1}, {'connected_gene': 'C4orf36', 'score': 11.1}, {'connected_gene': 'HSD17B13', 'score': 6.31}, {'connected_gene': 'ENSG00000250572', 'score': 5.29}, {'connected_gene': 'GC04P087116', 'score': 0.77}, {'connected_gene': 'LOC100419572', 'score': 0.25}]
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	GH04I087322	87322870	87322929	0.84	[{'connected_gene': 'HSD17B13', 'score': 550.77}, {'connected_gene': 'ENSG00000255723', 'score': 0.34}, {'connected_gene': 'MIR5705', 'score': 0.34}]
chr4	GH04I087850	87850601	87851857	0.58	[{'connected_gene': 'SPP1', 'score': 22.11}, {'connected_gene': 'HSD17B13', 'score': 4.67}, {'connected_gene': 'MEPE', 'score': 0.31}, {'connected_gene': 'HSP90AB3P', 'score': 0.26}]
chr4	GH04I087207	87207027	87207348	0.22	[{'connected_gene': 'GAPDHP60', 'score': 550.77}, {'connected_gene': 'HSD17B13', 'score': 8.34}, {'connected_gene': 'GC04P087226', 'score': 0.37}, {'connected_gene': 'KLHL8', 'score': 0.29}]
chr4	GH04I087304	87304789	87304938	0.75	[{'connected_gene': 'MIR5705', 'score': 0.77}, {'connected_gene': 'HSD17B13', 'score': 0.37}]
chr4	GH04I086543	86543444	86544540	0.64	[{'connected_gene': 'MIR4452', 'score': 550.77}, {'connected_gene': 'PTPN13', 'score': 26.8}, {'connected_gene': 'HSD17B13', 'score': 5.93}, {'connected_gene': 'MAPK10', 'score': 0.23}]
chr4	GH04I087165	87165598	87167010	0.63	[{'connected_gene': 'LOC100419572', 'score': 550.77}, {'connected_gene': 'HSD17B13', 'score': 8.34}, {'connected_gene': 'KLHL8', 'score': 7.77}, {'connected_gene': 'GC04P087116', 'score': 0.25}]
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	GH04I087116	87116578	87118166	0.31	[{'connected_gene': 'GC04P087116', 'score': 550.77}, {'connected_gene': 'AFF1', 'score': 8.82}, {'connected_gene': 'HSD17B13', 'score': 6.01}, {'connected_gene': 'LOC100419572', 'score': 0.25}]
chr4	GH04I087227	87227174	87229827	0.56	[{'connected_gene': 'GC04P087226', 'score': 550.77}, {'connected_gene': 'HSD17B13', 'score': 7.81}, {'connected_gene': 'AFF1', 'score': 5.78}, {'connected_gene': 'KLHL8', 'score': 0.39}]
chr4	GH04I087499	87499679	87500758	0.59	[{'connected_gene': 'ENSG00000272856', 'score': 7.57}, {'connected_gene': 'HSD17B13', 'score': 5.44}, {'connected_gene': 'LOC105377322', 'score': 0.34}, {'connected_gene': 'SPARCL1', 'score': 0.29}, {'connected_gene': 'LOC105377321', 'score': 0.29}]