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
ENST00000337774	[[186935941, 186938049], [186938822, 186938922], [186940914, 186940982], [186943111, 186943297], [186944194, 186944308], [186947547, 186947685], [186959268, 186959343], [186961271, 186961409], [186968038, 186968117], [186969421, 186969540], [186970955, 186971103], [186974451, 186974648], [186978528, 186978660], [186980330, 186980508], [187003612, 187003844], [187009415, 187009810]]	[[186937858, 186938049], [186938822, 186938922], [186940914, 186940982], [186943111, 186943297], [186944194, 186944308], [186947547, 186947685], [186959268, 186959343], [186961271, 186961409], [186968038, 186968117], [186969421, 186969540], [186970955, 186971103], [186974451, 186974648], [186978528, 186978660], [186980330, 186980508], [187003612, 187003844], [187009415, 187009420]]
ENST00000468121	[[186944014, 186944083], [186944194, 186944308], [186947547, 186947685], [186959268, 186959343], [186961271, 186961373]]	None
ENST00000480349	[[186951869, 186954355], [186959268, 186962764]]	None
ENST00000296280	[[186951869, 186954355], [186959268, 186959343], [186961271, 186961409], [186968038, 186968117], [186969421, 186969540], [186970955, 186971103], [186974451, 186974648], [186978528, 186978660], [186980330, 186980508], [187003612, 187003844], [187009415, 187009646]]	[[186953471, 186954355], [186959268, 186959343], [186961271, 186961409], [186968038, 186968117], [186969421, 186969540], [186970955, 186971103], [186974451, 186974648], [186978528, 186978660], [186980330, 186980508], [187003612, 187003844], [187009415, 187009420]]
ENST00000392472	[[186951871, 186954355], [186959268, 186959343], [186961271, 186961409], [186968038, 186968117], [186969421, 186969540], [186970955, 186971103], [186974451, 186974648], [186978528, 186978660], [186980330, 186980508], [187009415, 187009765]]	[[186953471, 186954355], [186959268, 186959343], [186961271, 186961409], [186968038, 186968117], [186969421, 186969540], [186970955, 186971103], [186974451, 186974648], [186978528, 186978660], [186980330, 186980406]]
ENST00000495249	[[186953654, 186954175], [187009476, 187009542]]	None
ENST00000169293	[[186964148, 186965173], [186968038, 186968117], [186969421, 186969540], [186970955, 186971103], [186974451, 186974648], [186978528, 186978660], [186980330, 186980508], [187003612, 187003844], [187009415, 187009745]]	[[186965120, 186965173], [186968038, 186968117], [186969421, 186969540], [186970955, 186971103], [186974451, 186974648], [186978528, 186978660], [186980330, 186980508], [187003612, 187003844], [187009415, 187009420]]
ENST00000392470	[[186964946, 186965173], [186968038, 186968117], [186969421, 186969540], [186970955, 186971103], [186974451, 186974648], [186978528, 186978660], [186980330, 186980508], [187003612, 187003844], [187009032, 187009138], [187009415, 187009670]]	[[186965120, 186965173], [186968038, 186968117], [186969421, 186969540], [186970955, 186971103], [186974451, 186974648], [186978528, 186978660], [186980330, 186980508], [187003612, 187003771]]
ENST00000483719	[[186969164, 186969540], [186970955, 186970989]]	None
ENST00000460839	[[186974372, 186974648], [186978528, 186978660], [186980330, 186980508], [187003612, 187003796]]	None
ENST00000490558	[[186974587, 186974648], [186978528, 186978660], [186980330, 186980508], [186980852, 186981044]]	None
ENST00000392475	[[186974602, 186974648], [186978528, 186978660], [186980330, 186980508], [187003612, 187003865], [187009415, 187009768]]	[[186974602, 186974648], [186978528, 186978660], [186980330, 186980508], [187003612, 187003865], [187009415, 187009420]]
ENST00000465015	[[186978557, 186978660], [186980330, 186980508], [186994380, 186994609]]	None
ENST00000439271	[[186980468, 186980508], [187003612, 187003844], [187009476, 187009746]]	[[186980468, 186980508], [187003612, 187003844], [187009476, 187009559]]
ENST00000425937	[[186980501, 186980508], [187003612, 187003844], [187009032, 187009276], [187009415, 187009485]]	[[186980501, 186980508], [187003612, 187003771]]
NM_001879	[[186933872, 186938049], [186938822, 186938922], [186940914, 186940982], [186943111, 186943297], [186944194, 186944308], [186947547, 186947685], [186959268, 186959343], [186961271, 186961409], [186968038, 186968117], [186969421, 186969540], [186970955, 186971103], [186974451, 186974648], [186978528, 186978660], [186980330, 186980508], [187003612, 187003844], [187009415, 187009810]]	[[186937858, 186938049], [186938822, 186938922], [186940914, 186940982], [186943111, 186943297], [186944194, 186944308], [186947547, 186947685], [186959268, 186959343], [186961271, 186961409], [186968038, 186968117], [186969421, 186969540], [186970955, 186971103], [186974451, 186974648], [186978528, 186978660], [186980330, 186980508], [187003612, 187003844], [187009415, 187009420]]
NM_139125	[[186951869, 186954355], [186959268, 186959343], [186961271, 186961409], [186968038, 186968117], [186969421, 186969540], [186970955, 186971103], [186974451, 186974648], [186978528, 186978660], [186980330, 186980508], [187003612, 187003844], [187009415, 187009810]]	[[186953471, 186954355], [186959268, 186959343], [186961271, 186961409], [186968038, 186968117], [186969421, 186969540], [186970955, 186971103], [186974451, 186974648], [186978528, 186978660], [186980330, 186980508], [187003612, 187003844], [187009415, 187009420]]
NR_033519	[[186951869, 186954355], [186959268, 186959343], [186961271, 186961409], [186968038, 186968117], [186969421, 186969540], [186970955, 186971103], [186974451, 186974648], [186978528, 186978660], [186980330, 186980508], [187009415, 187009810]]	None
NM_001031849	[[186964141, 186965173], [186968038, 186968117], [186969421, 186969540], [186970955, 186971103], [186974451, 186974648], [186978528, 186978660], [186980330, 186980508], [187003612, 187003844], [187009415, 187009810]]	[[186965120, 186965173], [186968038, 186968117], [186969421, 186969540], [186970955, 186971103], [186974451, 186974648], [186978528, 186978660], [186980330, 186980508], [187003612, 187003844], [187009415, 187009420]]

Promoter

Chrom	Start	End	Description
chr3	187009468	187009531	CAGE_peak_1_at_MASP1_5end
chr3	187009532	187009544	CAGE_peak_3_at_MASP1_5end
chr3	187009754	187009778	CAGE_peak_2_at_MASP1_5end
chr3	187009798	187009812	CAGE_peak_5_at_MASP1_5end
chr3	187010042	187010066	CAGE_peak_4_at_MASP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I187318	187318682	187320462	0.93	[{'connected_gene': 'SST', 'score': 11.92}, {'connected_gene': 'MASP1', 'score': 11.81}, {'connected_gene': 'RTP4', 'score': 11.3}]
chr3	GH03I187322	187322832	187324282	0.2	[{'connected_gene': 'SST', 'score': 11.0}, {'connected_gene': 'MASP1', 'score': 10.66}, {'connected_gene': 'RTP4', 'score': 10.38}]
chr3	GH03I187352	187352201	187353403	0.59	[{'connected_gene': 'RTP4', 'score': 5.67}, {'connected_gene': 'MASP1', 'score': 0.21}]
chr3	GH03I187285	187285818	187287521	1.39	[{'connected_gene': 'SNORA4', 'score': 19.32}, {'connected_gene': 'ENSG00000200418', 'score': 17.99}, {'connected_gene': 'TBCCD1', 'score': 16.58}, {'connected_gene': 'SNORA81', 'score': 15.34}, {'connected_gene': 'MASP1', 'score': 11.7}, {'connected_gene': 'RFC4', 'score': 10.09}, {'connected_gene': 'SNORA63', 'score': 9.69}, {'connected_gene': 'LOC101929130', 'score': 0.77}, {'connected_gene': 'LOC105374260', 'score': 0.21}]
chr3	GH03I187220	187220273	187220422	0.59	[{'connected_gene': 'SNORA4', 'score': 14.63}, {'connected_gene': 'ENSG00000200418', 'score': 14.47}, {'connected_gene': 'TBCCD1', 'score': 10.8}, {'connected_gene': 'MASP1', 'score': 10.7}, {'connected_gene': 'SNORA81', 'score': 10.47}, {'connected_gene': 'RTP4', 'score': 9.89}, {'connected_gene': 'LOC105374260', 'score': 0.77}, {'connected_gene': 'LOC101929106', 'score': 0.39}]
chr3	GH03I187261	187261950	187266262	1.11	[{'connected_gene': 'MASP1', 'score': 25.41}, {'connected_gene': 'SST', 'score': 10.08}, {'connected_gene': 'LOC101929130', 'score': 0.31}, {'connected_gene': 'LOC105374260', 'score': 0.28}]
chr3	GH03I187262	187261573	187261822	0.62	[{'connected_gene': 'MASP1', 'score': 24.72}, {'connected_gene': 'SST', 'score': 10.08}, {'connected_gene': 'LOC101929130', 'score': 0.31}, {'connected_gene': 'LOC105374260', 'score': 0.28}]
chr3	GH03I187209	187209858	187211200	0.97	[{'connected_gene': 'MASP1', 'score': 10.42}, {'connected_gene': 'RTP4', 'score': 9.27}, {'connected_gene': 'RTP1', 'score': 7.9}, {'connected_gene': 'LOC101929106', 'score': 0.77}, {'connected_gene': 'LOC105374260', 'score': 0.39}]
chr3	GH03I187227	187227462	187228602	0.49	[{'connected_gene': 'MASP1', 'score': 10.35}, {'connected_gene': 'LOC105374260', 'score': 0.77}, {'connected_gene': 'LOC101929130', 'score': 0.21}]
chr3	GH03I187290	187290573	187294232	1.92	[{'connected_gene': 'MASP1', 'score': 559.85}, {'connected_gene': 'LOC101929130', 'score': 550.77}, {'connected_gene': 'SST', 'score': 9.83}, {'connected_gene': 'RTP4', 'score': 0.18}]
chr3	GH03I187280	187280646	187282274	0.57	[{'connected_gene': 'MASP1', 'score': 12.13}, {'connected_gene': 'LOC101929130', 'score': 0.44}, {'connected_gene': 'LOC105374260', 'score': 0.22}]
chr3	GH03I187288	187288393	187289009	0.65	[{'connected_gene': 'MASP1', 'score': 9.83}, {'connected_gene': 'LOC101929130', 'score': 0.77}, {'connected_gene': 'LOC105374260', 'score': 0.21}]
chr3	GH03I187274	187274227	187275544	0.46	[{'connected_gene': 'MASP1', 'score': 13.57}, {'connected_gene': 'LOC101929130', 'score': 0.37}, {'connected_gene': 'LOC105374260', 'score': 0.25}]
chr3	GH03I187289	187289801	187290200	0.2	[{'connected_gene': 'LOC101929130', 'score': 550.77}, {'connected_gene': 'MASP1', 'score': 9.66}, {'connected_gene': 'LOC105374260', 'score': 0.2}]
chr3	GH03I187208	187208659	187208735	0.26	[{'connected_gene': 'LOC101929106', 'score': 550.77}, {'connected_gene': 'MASP1', 'score': 10.03}, {'connected_gene': 'LOC105374260', 'score': 0.37}]