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
ENST00000320474	[[160801670, 160804576], [160818926, 160819021], [160821214, 160821305], [160822106, 160822194], [160823022, 160823112]]	[[160803546, 160804542]]
ENST00000392779	[[160801670, 160804576], [160821214, 160821305], [160822106, 160822194], [160823022, 160823158]]	[[160803546, 160804542]]
ENST00000392780	[[160801670, 160804576], [160807731, 160807850], [160818926, 160819021], [160821214, 160821305], [160822106, 160822194], [160823022, 160823160]]	[[160803546, 160804542]]
ENST00000392781	[[160801684, 160804576], [160807731, 160807850], [160818926, 160819021], [160820900, 160820993], [160821214, 160821305], [160822106, 160822194], [160822572, 160822683], [160823022, 160823139]]	[[160803546, 160804542]]
ENST00000473285	[[160802770, 160804576], [160818926, 160819021], [160821214, 160821305], [160822106, 160822194], [160822294, 160822337]]	[[160803546, 160804542]]
ENST00000417187	[[160802778, 160803661], [160804381, 160804576], [160818926, 160818955]]	[[160803546, 160803661], [160804381, 160804542]]
ENST00000488170	[[160803546, 160804576], [160818926, 160819021], [160821214, 160821305], [160822106, 160822194], [160822572, 160822928]]	[[160803546, 160804542]]
ENST00000468268	[[160804209, 160804576], [160818926, 160819021], [160820900, 160820993], [160821214, 160821305], [160822106, 160822194], [160822572, 160822683], [160823022, 160823091]]	[[160804209, 160804542]]
ENST00000492353	[[160804346, 160804576], [160807747, 160807850], [160818926, 160819021], [160821214, 160821305], [160822106, 160822194], [160823022, 160823077]]	[[160804346, 160804542]]
ENST00000473142	[[160804366, 160804576], [160807731, 160807850], [160821214, 160821305], [160822106, 160822194], [160823022, 160823086]]	[[160804366, 160804542]]
ENST00000498216	[[160804380, 160804576], [160821214, 160821305], [160822106, 160822194], [160822572, 160822738]]	[[160804380, 160804542]]
ENST00000484127	[[160804418, 160804576], [160818926, 160819021], [160820900, 160820993], [160821214, 160821305], [160822106, 160822194], [160823022, 160823049]]	[[160804418, 160804542]]
ENST00000460353	[[160804451, 160804576], [160807731, 160807850], [160818926, 160819021], [160821214, 160821302], [160822106, 160822194], [160823022, 160823091]]	[[160804451, 160804576], [160807731, 160807850], [160818926, 160819021], [160821214, 160821302], [160822106, 160822130]]
ENST00000494173	[[160804453, 160804576], [160807731, 160807850], [160818926, 160819021], [160821214, 160821305], [160822106, 160822194], [160823022, 160823172]]	[[160804453, 160804542]]
ENST00000496295	[[160804557, 160804576], [160818926, 160819021], [160821214, 160821305], [160822106, 160822194], [160822572, 160822683], [160823022, 160823172]]	None
ENST00000476999	[[160807792, 160807850], [160818926, 160819021], [160820900, 160820993], [160821214, 160821305], [160822106, 160822194], [160823022, 160823172]]	None
ENST00000478383	[[160807826, 160807850], [160818926, 160819021], [160820900, 160820993], [160821214, 160821305], [160821745, 160821893], [160822106, 160822194], [160823022, 160823055]]	None
ENST00000494818	[[160818951, 160819021], [160821214, 160821305], [160821745, 160821893], [160822106, 160822194], [160822572, 160822683], [160823022, 160823093]]	None
ENST00000497487	[[160820929, 160820993], [160821214, 160821305], [160822106, 160822194], [160822790, 160823033]]	None
NM_033169	[[160801670, 160804576], [160818926, 160819021], [160821214, 160821305], [160822106, 160822194], [160822572, 160822683]]	[[160803546, 160804542]]
NM_001038628	[[160801670, 160804576], [160807731, 160807850], [160818926, 160819021], [160820900, 160820993], [160821214, 160821305], [160822106, 160822194], [160822572, 160822683], [160823022, 160823160]]	[[160803546, 160804542]]
NM_033167	[[160801670, 160804576], [160807731, 160807850], [160818926, 160819021], [160821214, 160821305], [160822106, 160822194], [160823022, 160823160]]	[[160803546, 160804542]]
NM_003781	[[160801670, 160804576], [160818926, 160819021], [160821214, 160821305], [160822106, 160822194], [160823022, 160823160]]	[[160803546, 160804542]]
NM_033168	[[160801670, 160804576], [160821214, 160821305], [160822106, 160822194], [160823022, 160823160]]	[[160803546, 160804542]]

Promoter

Chrom	Start	End	Description
chr3	160822604	160822622	CAGE_peak_10_at_B3GALNT1_5end
chr3	160822812	160822817	CAGE_peak_9_at_B3GALNT1_5end
chr3	160822824	160822852	CAGE_peak_3_at_B3GALNT1_5end
chr3	160822858	160822891	CAGE_peak_2_at_B3GALNT1_5end
chr3	160823040	160823151	CAGE_peak_1_at_B3GALNT1_5end
chr3	160823166	160823177	CAGE_peak_7_at_B3GALNT1_5end
chr3	160823187	160823206	CAGE_peak_4_at_B3GALNT1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I161007	161007735	161009329	0.38	[{'connected_gene': 'B3GALNT1', 'score': 5.03}, {'connected_gene': 'PSMC1P7', 'score': 4.21}, {'connected_gene': 'PIR58593', 'score': 0.21}, {'connected_gene': 'GC03P161074', 'score': 0.2}, {'connected_gene': 'PPM1L', 'score': 0.07}]
chr3	GH03I161171	161171200	161171600	0.69	[{'connected_gene': 'B3GALNT1', 'score': 11.17}, {'connected_gene': 'NMD3', 'score': 11.17}, {'connected_gene': 'PSMC1P7', 'score': 4.11}, {'connected_gene': 'GC03M161162', 'score': 0.39}, {'connected_gene': 'GC03P161155', 'score': 0.37}]
chr3	GH03I161041	161041573	161042778	0.7	[{'connected_gene': 'B3GALNT1', 'score': 11.01}, {'connected_gene': 'NMD3', 'score': 11.01}, {'connected_gene': 'SPTSSB', 'score': 10.09}, {'connected_gene': 'PSMC1P7', 'score': 4.85}, {'connected_gene': 'GC03P161074', 'score': 0.29}, {'connected_gene': 'PIR58593', 'score': 0.16}, {'connected_gene': 'PPM1L', 'score': 0.06}]
chr3	GH03I160983	160983953	160984102	0.43	[{'connected_gene': 'B3GALNT1', 'score': 10.91}, {'connected_gene': 'NMD3', 'score': 10.91}, {'connected_gene': 'SPTSSB', 'score': 9.45}, {'connected_gene': 'PIR58593', 'score': 0.28}, {'connected_gene': 'GC03P161074', 'score': 0.16}, {'connected_gene': 'PPM1L', 'score': 0.07}]
chr3	GH03I161104	161104001	161105821	1.79	[{'connected_gene': 'B3GALNT1', 'score': 561.83}, {'connected_gene': 'NMD3', 'score': 550.77}, {'connected_gene': 'SPTSSB', 'score': 15.61}]
chr3	GH03I161068	161068590	161071329	1.02	[{'connected_gene': 'B3GALNT1', 'score': 19.9}, {'connected_gene': 'NMD3', 'score': 10.61}, {'connected_gene': 'GC03P161074', 'score': 0.77}, {'connected_gene': 'PIR58593', 'score': 0.13}, {'connected_gene': 'PPM1L', 'score': 0.06}]
chr3	GH03I161162	161162824	161163798	0.65	[{'connected_gene': 'B3GALNT1', 'score': 19.69}, {'connected_gene': 'NMD3', 'score': 10.9}, {'connected_gene': 'GC03P161155', 'score': 0.44}, {'connected_gene': 'GC03M161162', 'score': 0.37}]
chr3	GH03I161100	161100369	161101981	0.72	[{'connected_gene': 'B3GALNT1', 'score': 0.77}, {'connected_gene': 'NMD3', 'score': 0.77}, {'connected_gene': 'GC03P161074', 'score': 0.31}]
chr3	GH03I161360	161360306	161361340	0.2	[{'connected_gene': 'B3GALNT1', 'score': 4.14}, {'connected_gene': 'SPTSSB', 'score': 0.39}, {'connected_gene': 'PSMC1P7', 'score': 0.29}]
chr3	GH03I160980	160980401	160981982	0.98	[{'connected_gene': 'B3GALNT1', 'score': 21.15}, {'connected_gene': 'SPTSSB', 'score': 11.36}, {'connected_gene': 'NMD3', 'score': 11.03}, {'connected_gene': 'IFT80', 'score': 10.48}, {'connected_gene': 'SMC4', 'score': 10.18}, {'connected_gene': 'PIR58593', 'score': 0.29}, {'connected_gene': 'GC03P161074', 'score': 0.16}, {'connected_gene': 'PPM1L', 'score': 0.07}]
chr3	GH03I161220	161220216	161223544	2.01	[{'connected_gene': 'NMD3', 'score': 561.05}, {'connected_gene': 'ENSG00000271052', 'score': 550.77}, {'connected_gene': 'SPTSSB', 'score': 24.49}, {'connected_gene': 'B3GALNT1', 'score': 18.61}, {'connected_gene': 'PSMC1P7', 'score': 13.93}, {'connected_gene': 'RPL23AP42', 'score': 9.97}, {'connected_gene': 'EEF1GP4', 'score': 7.9}, {'connected_gene': 'LOC105374186', 'score': 0.28}]
chr3	GH03I161081	161081601	161082200	0.2	[{'connected_gene': 'NMD3', 'score': 16.08}, {'connected_gene': 'SPTSSB', 'score': 15.13}, {'connected_gene': 'B3GALNT1', 'score': 12.08}, {'connected_gene': 'GC03P161074', 'score': 0.44}]
chr3	GH03I161026	161026583	161027314	0.43	[{'connected_gene': 'SPTSSB', 'score': 9.77}, {'connected_gene': 'B3GALNT1', 'score': 5.67}, {'connected_gene': 'PSMC1P7', 'score': 4.21}, {'connected_gene': 'GC03P161074', 'score': 0.25}, {'connected_gene': 'PIR58593', 'score': 0.18}, {'connected_gene': 'PPM1L', 'score': 0.06}]
chr3	GH03I160982	160982201	160983000	0.31	[{'connected_gene': 'SPTSSB', 'score': 11.59}, {'connected_gene': 'B3GALNT1', 'score': 10.5}, {'connected_gene': 'NMD3', 'score': 10.5}, {'connected_gene': 'PIR58593', 'score': 0.29}, {'connected_gene': 'GC03P161074', 'score': 0.16}, {'connected_gene': 'PPM1L', 'score': 0.07}]
chr3	GH03I161413	161412588	161416912	1.25	[{'connected_gene': 'SPTSSB', 'score': 32.14}, {'connected_gene': 'B3GALNT1', 'score': 10.17}, {'connected_gene': 'NMD3', 'score': 10.17}, {'connected_gene': 'LINC02067', 'score': 9.27}, {'connected_gene': 'PSMC1P7', 'score': 6.28}]
chr3	GH03I160885	160885266	160886682	1.08	[{'connected_gene': 'SPTSSB', 'score': 11.52}, {'connected_gene': 'ARL14', 'score': 9.79}, {'connected_gene': 'B3GALNT1', 'score': 8.53}, {'connected_gene': 'PIR58593', 'score': 0.21}, {'connected_gene': 'PPM1L', 'score': 0.12}]
chr3	GH03I161365	161365755	161366570	0.66	[{'connected_gene': 'SPTSSB', 'score': 24.72}, {'connected_gene': 'PSMC1P7', 'score': 5.26}, {'connected_gene': 'B3GALNT1', 'score': 4.55}]
chr3	GH03I161371	161371053	161373643	2.13	[{'connected_gene': 'SPTSSB', 'score': 576.01}, {'connected_gene': 'PSMC1P7', 'score': 13.18}, {'connected_gene': 'RPL23AP42', 'score': 9.96}, {'connected_gene': 'LINC02067', 'score': 9.01}, {'connected_gene': 'B3GALNT1', 'score': 4.15}]
chr3	GH03I161348	161348553	161351017	1.07	[{'connected_gene': 'SPTSSB', 'score': 36.83}, {'connected_gene': 'LINC02067', 'score': 10.19}, {'connected_gene': 'PSMC1P7', 'score': 9.47}, {'connected_gene': 'EEF1GP4', 'score': 5.51}, {'connected_gene': 'B3GALNT1', 'score': 4.14}]
chr3	GH03I161030	161030883	161032064	0.76	[{'connected_gene': 'SPTSSB', 'score': 11.52}, {'connected_gene': 'SMC4', 'score': 9.75}, {'connected_gene': 'B3GALNT1', 'score': 4.69}, {'connected_gene': 'PSMC1P7', 'score': 4.34}, {'connected_gene': 'GC03P161074', 'score': 0.26}, {'connected_gene': 'PIR58593', 'score': 0.18}, {'connected_gene': 'PPM1L', 'score': 0.06}]