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
ENST00000534401	[[392613, 392708], [394328, 394524], [396607, 396687], [396813, 397198]]	[[396969, 397198]]
ENST00000533249	[[393448, 393534], [394328, 394524], [396607, 396687], [396813, 397445], [397538, 397655]]	[[396969, 397445], [397538, 397655]]
ENST00000527442	[[393462, 393517], [394328, 394524], [396607, 396687], [396813, 397329]]	[[396969, 397329]]
ENST00000528036	[[394144, 394183], [394328, 394524], [396607, 396687], [396813, 397438]]	[[396969, 397438]]
ENST00000331563	[[394216, 394524], [396607, 396687], [396813, 397445], [397538, 397662], [398991, 399196], [399966, 400141], [400333, 400451], [400534, 400705], [403077, 403263], [403617, 403771], [403942, 404135], [404235, 404323], [404533, 404908]]	[[394292, 394524], [396607, 396687], [396813, 397445], [397538, 397662], [398991, 399196], [399966, 400141], [400333, 400451], [400534, 400705], [403077, 403263], [403617, 403771], [403942, 404135], [404235, 404323], [404533, 404569]]
ENST00000533069	[[394242, 394524], [396607, 396915]]	None
ENST00000531857	[[394242, 394334], [394508, 394524], [396607, 396687], [396813, 397312]]	[[394292, 394334], [394508, 394524], [396607, 396687], [396813, 397312]]
ENST00000530695	[[396150, 396339], [396607, 396687], [396813, 396985]]	None
ENST00000524646	[[397371, 397445], [397538, 397776]]	None
ENST00000526971	[[397629, 397662], [398991, 399196], [399966, 400260]]	None
ENST00000525642	[[404086, 404135], [404235, 404681]]	[[404086, 404135], [404235, 404533]]
NM_001303029	[[392598, 392708], [394328, 394524], [396607, 396687], [396813, 397445], [397538, 397662], [398991, 399196], [399966, 400141], [400333, 400451], [400534, 400705], [403077, 403263], [403617, 403771], [403942, 404135], [404235, 404323], [404533, 404908]]	[[392627, 392708], [394328, 394524], [396607, 396687], [396813, 397445], [397538, 397662], [398991, 399196], [399966, 400141], [400333, 400451], [400534, 400705], [403077, 403263], [403617, 403771], [403942, 404135], [404235, 404323], [404533, 404569]]
NM_007183	[[394182, 394524], [396607, 396687], [396813, 397445], [397538, 397662], [398991, 399196], [399966, 400141], [400333, 400451], [400534, 400705], [403077, 403263], [403617, 403771], [403942, 404135], [404235, 404323], [404533, 404908]]	[[394292, 394524], [396607, 396687], [396813, 397445], [397538, 397662], [398991, 399196], [399966, 400141], [400333, 400451], [400534, 400705], [403077, 403263], [403617, 403771], [403942, 404135], [404235, 404323], [404533, 404569]]

Promoter

Chrom	Start	End	Description
chr11	392573	392586	CAGE_peak_4_at_PKP3_5end
chr11	392587	392618	CAGE_peak_2_at_PKP3_5end
chr11	392625	392628	CAGE_peak_13_at_PKP3_5end
chr11	393428	393451	CAGE_peak_6_at_PKP3_5end
chr11	394157	394180	CAGE_peak_3_at_PKP3_5end
chr11	394196	394258	CAGE_peak_1_at_PKP3_5end
chr11	394263	394275	CAGE_peak_5_at_PKP3_5end
chr11	397264	397265	CAGE_peak_8_at_PKP3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I000403	403453	404787	0.38	[{'connected_gene': 'SIGIRR', 'score': 42.27}, {'connected_gene': 'LOC692247', 'score': 6.19}, {'connected_gene': 'GC11M000414', 'score': 0.77}, {'connected_gene': 'PKP3', 'score': 0.39}, {'connected_gene': 'GC11P000395', 'score': 0.39}]
chr11	GH11I000386	386932	387750	0.52	[{'connected_gene': 'SIGIRR', 'score': 19.8}, {'connected_gene': 'SIRT3', 'score': 11.69}, {'connected_gene': 'PSMD13', 'score': 11.69}, {'connected_gene': 'PKP3', 'score': 8.55}, {'connected_gene': 'GC11P000389', 'score': 0.77}, {'connected_gene': 'B4GALNT4', 'score': 0.37}]
chr11	GH11I000574	574925	581837	2.28	[{'connected_gene': 'PHRF1', 'score': 578.19}, {'connected_gene': 'TMEM80', 'score': 37.32}, {'connected_gene': 'SNORA52', 'score': 31.05}, {'connected_gene': 'ENSG00000255237', 'score': 28.45}, {'connected_gene': 'BET1L', 'score': 26.44}, {'connected_gene': 'TSPAN4', 'score': 22.62}, {'connected_gene': 'PSMD13', 'score': 14.53}, {'connected_gene': 'RIC8A', 'score': 14.07}, {'connected_gene': 'RPLP2', 'score': 9.93}, {'connected_gene': 'HRAS', 'score': 9.77}, {'connected_gene': 'LOC692247', 'score': 8.96}, {'connected_gene': 'IRF7', 'score': 7.84}, {'connected_gene': 'ENSG00000255158', 'score': 7.18}, {'connected_gene': 'PKP3', 'score': 6.25}, {'connected_gene': 'GC11P000582', 'score': 0.77}, {'connected_gene': 'LOC143666', 'score': 0.77}, {'connected_gene': 'PIR42218', 'score': 0.39}]
chr11	GH11I000559	559142	566688	2.21	[{'connected_gene': 'LMNTD2', 'score': 557.47}, {'connected_gene': 'RASSF7', 'score': 550.77}, {'connected_gene': 'GC11M000563', 'score': 550.77}, {'connected_gene': 'PHRF1', 'score': 15.36}, {'connected_gene': 'HRAS', 'score': 12.51}, {'connected_gene': 'TMEM80', 'score': 11.56}, {'connected_gene': 'PKP3', 'score': 5.27}, {'connected_gene': 'RNH1', 'score': 4.92}, {'connected_gene': 'PTDSS2', 'score': 4.43}, {'connected_gene': 'GC11M000576', 'score': 0.44}, {'connected_gene': 'GC11M000578', 'score': 0.44}, {'connected_gene': 'LOC692247', 'score': 0.44}, {'connected_gene': 'MIR210HG', 'score': 0.44}]
chr11	GH11I000391	391978	397450	2.17	[{'connected_gene': 'PKP3', 'score': 560.96}, {'connected_gene': 'GC11P000395', 'score': 550.77}, {'connected_gene': 'SIGIRR', 'score': 21.99}, {'connected_gene': 'ENSG00000255142', 'score': 13.4}, {'connected_gene': 'PIDD1', 'score': 12.83}, {'connected_gene': 'DRD4', 'score': 12.68}, {'connected_gene': 'TMEM80', 'score': 11.1}, {'connected_gene': 'GATD1', 'score': 10.79}, {'connected_gene': 'ENSG00000255158', 'score': 10.23}, {'connected_gene': 'PTDSS2', 'score': 9.76}, {'connected_gene': 'GC11M000414', 'score': 0.39}]
chr11	GH11I000390	390967	391841	0.46	[{'connected_gene': 'PKP3', 'score': 560.93}, {'connected_gene': 'SIGIRR', 'score': 18.6}, {'connected_gene': 'TMEM80', 'score': 4.37}, {'connected_gene': 'GC11P000389', 'score': 0.77}]
chr11	GH11I000404	404907	405605	0.38	[{'connected_gene': 'GC11P000407', 'score': 550.77}, {'connected_gene': 'GC11M000414', 'score': 550.77}, {'connected_gene': 'GC11M000406', 'score': 550.77}, {'connected_gene': 'SIGIRR', 'score': 40.48}, {'connected_gene': 'PKP3', 'score': 7.53}, {'connected_gene': 'LOC692247', 'score': 6.39}, {'connected_gene': 'GC11P000395', 'score': 0.39}]
chr11	GH11I000389	389400	389601	0.43	[{'connected_gene': 'GC11P000389', 'score': 550.77}, {'connected_gene': 'SIGIRR', 'score': 14.31}, {'connected_gene': 'PKP3', 'score': 5.99}]
chr11	GH11I000737	737087	738919	1.15	[{'connected_gene': 'GC11P000742', 'score': 550.77}, {'connected_gene': 'LOC105376509', 'score': 550.77}, {'connected_gene': 'GC11P000743', 'score': 550.77}, {'connected_gene': 'LOC171391', 'score': 12.29}, {'connected_gene': 'EPS8L2', 'score': 7.59}, {'connected_gene': 'TALDO1', 'score': 7.16}, {'connected_gene': 'TMEM80', 'score': 6.68}, {'connected_gene': 'ENSG00000255108', 'score': 6.08}, {'connected_gene': 'SIGIRR', 'score': 1.99}, {'connected_gene': 'PKP3', 'score': 1.33}]