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
ENST00000470165	[[103330316, 103330506], [103339816, 103340065], [103347032, 103347214], [103354414, 103354495], [103356349, 103356408]]	None
ENST00000416979	[[103330405, 103330506], [103339914, 103340065], [103347032, 103347214], [103347589, 103348654]]	[[103347208, 103347214], [103347589, 103348324]]
ENST00000370151	[[103348044, 103348157], [103354414, 103354495], [103360494, 103360619], [103360959, 103361093], [103368591, 103368694], [103369123, 103369425]]	[[103348093, 103348157], [103354414, 103354495], [103360494, 103360619], [103360959, 103361093], [103368591, 103368694], [103369123, 103369228]]
ENST00000370147	[[103348081, 103348157], [103354414, 103354495], [103360494, 103360619], [103360959, 103361093], [103364896, 103364969], [103368623, 103368694], [103369123, 103369204]]	[[103348093, 103348157], [103354414, 103354495], [103360494, 103360619], [103360959, 103361093], [103364896, 103364969], [103368623, 103368659]]
ENST00000370148	[[103348088, 103348157], [103354414, 103354495], [103360494, 103360619], [103360959, 103361093], [103364896, 103364969], [103368623, 103368659]]	[[103348093, 103348157], [103354414, 103354495], [103360494, 103360619], [103360959, 103361093], [103364896, 103364969], [103368623, 103368659]]
ENST00000434727	[[103354458, 103354495], [103360494, 103360619], [103360959, 103361093], [103369123, 103369196]]	[[103354458, 103354495], [103360494, 103360619], [103360959, 103361093], [103369123, 103369178]]
ENST00000475443	[[103360495, 103360619], [103360959, 103361093], [103368623, 103368801], [103369123, 103369418]]	None
NM_001329746	[[103348044, 103348157], [103354414, 103354495], [103356349, 103357769]]	[[103348093, 103348157], [103354414, 103354495], [103356349, 103356396]]
NM_001329743	[[103348044, 103348157], [103354414, 103354495], [103360494, 103360619], [103360959, 103361093], [103368627, 103368694], [103369123, 103369421]]	[[103348093, 103348157], [103354414, 103354495], [103360494, 103360619], [103360959, 103361093], [103368627, 103368694], [103369123, 103369228]]
NM_015448	[[103348044, 103348157], [103354414, 103354495], [103360494, 103360619], [103360959, 103361093], [103368591, 103368694], [103369123, 103369421]]	[[103348093, 103348157], [103354414, 103354495], [103360494, 103360619], [103360959, 103361093], [103368591, 103368694], [103369123, 103369228]]
NM_001329744	[[103348044, 103348157], [103354414, 103354495], [103360494, 103360619], [103360959, 103361093], [103364896, 103364969], [103368623, 103368694], [103369123, 103369421]]	[[103348093, 103348157], [103354414, 103354495], [103360494, 103360619], [103360959, 103361093], [103364896, 103364969], [103368623, 103368659]]
NM_001329745	[[103348044, 103348157], [103354414, 103354495], [103360494, 103360619], [103360959, 103361093], [103364896, 103364969], [103368591, 103368694], [103369123, 103369421]]	[[103361029, 103361093], [103364896, 103364969], [103368591, 103368694], [103369123, 103369228]]
NM_001329742	[[103348044, 103348157], [103354414, 103354495], [103360494, 103360619], [103360926, 103361093], [103368591, 103368694], [103369123, 103369421]]	[[103348093, 103348157], [103354414, 103354495], [103360494, 103360619], [103360926, 103361093], [103368591, 103368694], [103369123, 103369228]]

Promoter

Chrom	Start	End	Description
chr10	103348031	103348092	CAGE_peak_1_at_DPCD_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I101330	101330944	101331300	1.05	[{'connected_gene': 'BTRC', 'score': 13.66}, {'connected_gene': 'RNU2-43P', 'score': 11.83}, {'connected_gene': 'RNU2-59P', 'score': 10.37}, {'connected_gene': 'POLL', 'score': 9.26}, {'connected_gene': 'DPCD', 'score': 9.25}, {'connected_gene': 'PDZD7', 'score': 2.7}, {'connected_gene': 'MGEA5', 'score': 1.28}, {'connected_gene': 'ENSG00000230967', 'score': 0.44}, {'connected_gene': 'GC10P101339', 'score': 0.44}]
chr10	GH10I101716	101716904	101717053	0.59	[{'connected_gene': 'FBXW4', 'score': 11.62}, {'connected_gene': 'POLL', 'score': 10.6}, {'connected_gene': 'DPCD', 'score': 10.58}, {'connected_gene': 'ENSG00000224817', 'score': 0.44}, {'connected_gene': 'LOC105378458', 'score': 0.23}]
chr10	GH10I101692	101692776	101695918	2.33	[{'connected_gene': 'FBXW4', 'score': 550.77}, {'connected_gene': 'PPRC1', 'score': 40.74}, {'connected_gene': 'GBF1', 'score': 32.68}, {'connected_gene': 'MRPL43', 'score': 30.36}, {'connected_gene': 'LDB1', 'score': 23.72}, {'connected_gene': 'ENSG00000272572', 'score': 22.8}, {'connected_gene': 'HPS6', 'score': 17.22}, {'connected_gene': 'TWNK', 'score': 10.82}, {'connected_gene': 'SUFU', 'score': 10.73}, {'connected_gene': 'LZTS2', 'score': 10.04}, {'connected_gene': 'C10orf76', 'score': 10.01}, {'connected_gene': 'PDZD7', 'score': 9.66}, {'connected_gene': 'BTRC', 'score': 5.64}, {'connected_gene': 'DPCD', 'score': 4.6}, {'connected_gene': 'MGEA5', 'score': 1.23}, {'connected_gene': 'RNU6-1165P', 'score': 0.19}]
chr10	GH10I101668	101668261	101668939	0.2	[{'connected_gene': 'FBXW4', 'score': 11.14}, {'connected_gene': 'FGF8', 'score': 10.6}, {'connected_gene': 'RNU6-1165P', 'score': 10.46}, {'connected_gene': 'POLL', 'score': 9.74}, {'connected_gene': 'DPCD', 'score': 9.72}]
chr10	GH10I101189	101189172	101190400	0.74	[{'connected_gene': 'TLX1', 'score': 10.82}, {'connected_gene': 'RNU2-43P', 'score': 10.73}, {'connected_gene': 'DPCD', 'score': 9.97}, {'connected_gene': 'POLL', 'score': 9.97}, {'connected_gene': 'LINC01514', 'score': 4.71}, {'connected_gene': 'BLOC1S2', 'score': 4.1}, {'connected_gene': 'SMARCE1P7', 'score': 0.44}, {'connected_gene': 'GC10M101227', 'score': 0.28}]
chr10	GH10I102007	102007703	102008402	0.2	[{'connected_gene': 'KCNIP2', 'score': 12.2}, {'connected_gene': 'C10orf76', 'score': 11.58}, {'connected_gene': 'HPS6', 'score': 11.56}, {'connected_gene': 'KCNIP2-AS1', 'score': 10.47}, {'connected_gene': 'MGEA5', 'score': 10.47}, {'connected_gene': 'FGF8', 'score': 9.35}, {'connected_gene': 'POLL', 'score': 8.96}, {'connected_gene': 'DPCD', 'score': 8.96}, {'connected_gene': 'ENSG00000222430', 'score': 0.22}]
chr10	GH10I102009	102009800	102010201	1.24	[{'connected_gene': 'KCNIP2', 'score': 12.2}, {'connected_gene': 'C10orf76', 'score': 11.58}, {'connected_gene': 'HPS6', 'score': 11.56}, {'connected_gene': 'KCNIP2-AS1', 'score': 10.47}, {'connected_gene': 'MGEA5', 'score': 10.47}, {'connected_gene': 'FGF8', 'score': 9.35}, {'connected_gene': 'POLL', 'score': 8.96}, {'connected_gene': 'DPCD', 'score': 8.96}, {'connected_gene': 'ENSG00000222430', 'score': 0.22}]
chr10	GH10I101606	101606714	101607972	0.69	[{'connected_gene': 'POLL', 'score': 6.98}, {'connected_gene': 'DPCD', 'score': 4.98}, {'connected_gene': 'MIR3158-2', 'score': 0.44}, {'connected_gene': 'RNU6-1165P', 'score': 0.37}]
chr10	GH10I101593	101593001	101593708	0.2	[{'connected_gene': 'POLL', 'score': 7.05}, {'connected_gene': 'GC10P101599', 'score': 0.44}, {'connected_gene': 'DPCD', 'score': 0.34}, {'connected_gene': 'GC10P101487', 'score': 0.14}]
chr10	GH10I101586	101586838	101589240	1.99	[{'connected_gene': 'POLL', 'score': 550.77}, {'connected_gene': 'DPCD', 'score': 550.37}, {'connected_gene': 'GC10P101487', 'score': 0.15}]
chr10	GH10I101569	101569784	101571147	1.43	[{'connected_gene': 'DPCD', 'score': 550.77}, {'connected_gene': 'LZTS2', 'score': 14.67}, {'connected_gene': 'PPRC1', 'score': 11.16}, {'connected_gene': 'BTRC', 'score': 4.52}, {'connected_gene': 'PIR58090', 'score': 0.37}, {'connected_gene': 'GC10P101487', 'score': 0.18}]
chr10	GH10I101478	101478779	101478956	0.22	[{'connected_gene': 'DPCD', 'score': 11.72}, {'connected_gene': 'POLL', 'score': 10.13}, {'connected_gene': 'BTRC', 'score': 4.44}, {'connected_gene': 'GC10P101487', 'score': 0.44}, {'connected_gene': 'GC10M101454', 'score': 0.44}]
chr10	GH10I101616	101616886	101618129	0.74	[{'connected_gene': 'DPCD', 'score': 16.08}, {'connected_gene': 'POLL', 'score': 11.12}, {'connected_gene': 'FGF8', 'score': 11.05}, {'connected_gene': 'BTRC', 'score': 9.4}, {'connected_gene': 'RNU6-1165P', 'score': 0.44}, {'connected_gene': 'MIR3158-2', 'score': 0.37}, {'connected_gene': 'FBXW4', 'score': 0.18}]
chr10	GH10I101576	101576004	101576153	0.84	[{'connected_gene': 'DPCD', 'score': 0.44}, {'connected_gene': 'POLL', 'score': 0.39}, {'connected_gene': 'GC10P101487', 'score': 0.17}]
chr10	GH10I101535	101535253	101537093	0.8	[{'connected_gene': 'DPCD', 'score': 12.14}, {'connected_gene': 'RNU2-43P', 'score': 10.4}, {'connected_gene': 'PIR58342', 'score': 0.37}, {'connected_gene': 'GC10P101507', 'score': 0.31}, {'connected_gene': 'GC10P101487', 'score': 0.25}, {'connected_gene': 'BTRC', 'score': 0.09}]
chr10	GH10I101566	101566764	101566873	0.86	[{'connected_gene': 'DPCD', 'score': 0.77}, {'connected_gene': 'PIR58090', 'score': 0.39}, {'connected_gene': 'GC10P101487', 'score': 0.18}]
chr10	GH10I101725	101725852	101726422	0.31	[{'connected_gene': 'FGF8', 'score': 11.32}, {'connected_gene': 'FBXW4', 'score': 11.3}, {'connected_gene': 'POLL', 'score': 10.34}, {'connected_gene': 'DPCD', 'score': 10.32}, {'connected_gene': 'HPS6', 'score': 9.11}, {'connected_gene': 'ENSG00000224817', 'score': 0.37}, {'connected_gene': 'LOC105378458', 'score': 0.26}]
chr10	GH10I101466	101466328	101466590	0.76	[{'connected_gene': 'RNU2-43P', 'score': 11.03}, {'connected_gene': 'DPCD', 'score': 10.99}, {'connected_gene': 'GC10M101454', 'score': 0.77}, {'connected_gene': 'GC10P101452', 'score': 0.39}, {'connected_gene': 'BTRC', 'score': 0.14}]
chr10	GH10I101484	101484234	101484611	0.69	[{'connected_gene': 'RNU2-43P', 'score': 10.77}, {'connected_gene': 'DPCD', 'score': 10.76}, {'connected_gene': 'TLX1', 'score': 10.29}, {'connected_gene': 'POLL', 'score': 9.91}, {'connected_gene': 'GC10P101487', 'score': 0.77}, {'connected_gene': 'GC10M101454', 'score': 0.39}, {'connected_gene': 'BTRC', 'score': 0.12}]
chr10	GH10I101642	101642663	101645492	0.43	[{'connected_gene': 'RNU6-1165P', 'score': 11.9}, {'connected_gene': 'POLL', 'score': 11.16}, {'connected_gene': 'DPCD', 'score': 11.13}, {'connected_gene': 'FGF8', 'score': 10.45}, {'connected_gene': 'RNU2-43P', 'score': 9.59}, {'connected_gene': 'HPS6', 'score': 6.5}, {'connected_gene': 'FBXW4', 'score': 0.23}]
chr10	GH10I101580	101580620	101581249	0.31	[{'connected_gene': 'RNU6-1165P', 'score': 10.27}, {'connected_gene': 'RNU2-43P', 'score': 9.93}, {'connected_gene': 'POLL', 'score': 6.69}, {'connected_gene': 'DPCD', 'score': 0.39}, {'connected_gene': 'GC10P101487', 'score': 0.16}]
chr10	GH10I101602	101602804	101603013	0.78	[{'connected_gene': 'MIR3158-2', 'score': 550.77}, {'connected_gene': 'MIR3158-1', 'score': 550.77}, {'connected_gene': 'RNU6-1165P', 'score': 0.37}, {'connected_gene': 'DPCD', 'score': 0.29}, {'connected_gene': 'GC10P101487', 'score': 0.13}]
chr10	GH10I101452	101452239	101452497	0.63	[{'connected_gene': 'GC10P101452', 'score': 550.77}, {'connected_gene': 'RNU2-43P', 'score': 10.31}, {'connected_gene': 'TLX1', 'score': 10.06}, {'connected_gene': 'DPCD', 'score': 9.94}, {'connected_gene': 'POLL', 'score': 9.93}, {'connected_gene': 'BTRC', 'score': 9.64}, {'connected_gene': 'GC10M101454', 'score': 0.37}]
chr10	GH10I101453	101453824	101453993	0.78	[{'connected_gene': 'GC10P101452', 'score': 550.77}, {'connected_gene': 'RNU2-43P', 'score': 10.31}, {'connected_gene': 'TLX1', 'score': 10.06}, {'connected_gene': 'DPCD', 'score': 9.94}, {'connected_gene': 'POLL', 'score': 9.93}, {'connected_gene': 'BTRC', 'score': 9.64}, {'connected_gene': 'GC10M101454', 'score': 0.37}]
chr10	GH10I101451	101451610	101452195	0.84	[{'connected_gene': 'GC10P101452', 'score': 550.77}, {'connected_gene': 'RNU2-43P', 'score': 10.31}, {'connected_gene': 'TLX1', 'score': 10.06}, {'connected_gene': 'DPCD', 'score': 9.94}, {'connected_gene': 'POLL', 'score': 9.93}, {'connected_gene': 'BTRC', 'score': 9.64}, {'connected_gene': 'GC10P101447', 'score': 0.77}]
chr10	GH10I101485	101485253	101486853	1.73	[{'connected_gene': 'GC10P101487', 'score': 550.77}, {'connected_gene': 'RNU2-43P', 'score': 10.77}, {'connected_gene': 'DPCD', 'score': 10.77}, {'connected_gene': 'TLX1', 'score': 10.3}, {'connected_gene': 'POLL', 'score': 9.91}, {'connected_gene': 'KCNIP2-AS1', 'score': 4.49}, {'connected_gene': 'MFSD13A', 'score': 3.73}, {'connected_gene': 'GC10M101454', 'score': 0.37}, {'connected_gene': 'BTRC', 'score': 0.12}]