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
ENST00000439817	[[103544199, 103546344], [103547120, 103547280], [103550652, 103550845], [103551110, 103551196], [103552595, 103552700], [103553669, 103553755], [103557736, 103557911], [103558598, 103559212], [103563491, 103563776], [103565801, 103565900], [103567486, 103567658], [103569940, 103570071], [103572786, 103572884], [103573311, 103573363], [103577580, 103578222]]	[[103546207, 103546344], [103547120, 103547280], [103550652, 103550845], [103551110, 103551196], [103552595, 103552700], [103553669, 103553755], [103557736, 103557911], [103558598, 103559212], [103563491, 103563776], [103565801, 103565900], [103567486, 103567658], [103569940, 103570071], [103572786, 103572884], [103573311, 103573363], [103577580, 103577779]]
ENST00000361464	[[103544208, 103546344], [103547120, 103547280], [103550652, 103550845], [103551110, 103551196], [103552595, 103552700], [103553669, 103553755], [103557736, 103557911], [103558598, 103559212], [103559998, 103560157], [103563491, 103563776], [103565801, 103565900], [103567486, 103567658], [103569940, 103570071], [103572786, 103572884], [103573311, 103573363], [103577580, 103578175]]	[[103546207, 103546344], [103547120, 103547280], [103550652, 103550845], [103551110, 103551196], [103552595, 103552700], [103553669, 103553755], [103557736, 103557911], [103558598, 103559212], [103559998, 103560157], [103563491, 103563776], [103565801, 103565900], [103567486, 103567658], [103569940, 103570071], [103572786, 103572884], [103573311, 103573363], [103577580, 103577779]]
ENST00000462994	[[103545858, 103546344], [103547120, 103547722]]	None
ENST00000482611	[[103545890, 103546344], [103547120, 103547280], [103550652, 103550845], [103551110, 103551196], [103552595, 103552700], [103557736, 103557911], [103558598, 103559089]]	None
ENST00000357797	[[103545890, 103546344], [103547120, 103547280], [103550652, 103550845], [103551110, 103551196], [103552595, 103552658], [103553669, 103553755], [103557736, 103557911], [103558598, 103559212], [103563491, 103563776], [103565801, 103565900], [103567486, 103567658], [103569940, 103570071], [103572786, 103572884], [103573311, 103573363], [103577580, 103578175]]	[[103546207, 103546344], [103547120, 103547280], [103550652, 103550845], [103551110, 103551196], [103552595, 103552658], [103553669, 103553755], [103557736, 103557911], [103558598, 103559212], [103563491, 103563776], [103565801, 103565900], [103567486, 103567658], [103569940, 103570071], [103572786, 103572884], [103573311, 103573363], [103577580, 103577779]]
ENST00000494347	[[103545900, 103546344], [103547120, 103547280], [103552595, 103552703]]	None
ENST00000479811	[[103546290, 103546344], [103547120, 103547280], [103550652, 103550845], [103551110, 103551196], [103552595, 103552700], [103553442, 103553501], [103557736, 103557774]]	None
ENST00000461645	[[103546319, 103546344], [103547120, 103547280], [103550652, 103551210]]	None
ENST00000492204	[[103552364, 103552700], [103553669, 103553852]]	None
ENST00000370094	[[103556802, 103557911], [103558598, 103559212], [103559998, 103560157], [103563491, 103563776], [103565801, 103565900], [103567486, 103567658], [103569940, 103570071], [103572786, 103572884], [103573311, 103573363], [103577580, 103578175]]	[[103557686, 103557911], [103558598, 103559212], [103559998, 103560157], [103563491, 103563776], [103565801, 103565900], [103567486, 103567658], [103569940, 103570071], [103572786, 103572884], [103573311, 103573363], [103577580, 103577779]]
ENST00000429860	[[103563503, 103563776], [103567486, 103567658], [103569940, 103570071], [103572786, 103572884], [103573311, 103573363], [103577580, 103577623]]	[[103563503, 103563776], [103567486, 103567658], [103569940, 103570071], [103572786, 103572884], [103573311, 103573363], [103577580, 103577623]]
ENST00000419011	[[103565799, 103565900], [103567486, 103567658], [103569940, 103569973], [103572461, 103572680], [103572786, 103572884], [103573311, 103573363], [103577580, 103577853], [103578562, 103578696]]	[[103572573, 103572680], [103572786, 103572884], [103573311, 103573363], [103577580, 103577779]]
NM_012215	[[103544199, 103546344], [103547120, 103547280], [103550652, 103550845], [103551110, 103551196], [103552595, 103552700], [103553669, 103553755], [103557736, 103557911], [103558598, 103559212], [103559998, 103560157], [103563491, 103563776], [103565801, 103565900], [103567486, 103567658], [103569940, 103570071], [103572786, 103572884], [103573311, 103573363], [103577580, 103578222]]	[[103546207, 103546344], [103547120, 103547280], [103550652, 103550845], [103551110, 103551196], [103552595, 103552700], [103553669, 103553755], [103557736, 103557911], [103558598, 103559212], [103559998, 103560157], [103563491, 103563776], [103565801, 103565900], [103567486, 103567658], [103569940, 103570071], [103572786, 103572884], [103573311, 103573363], [103577580, 103577779]]
NM_001142434	[[103544199, 103546344], [103547120, 103547280], [103550652, 103550845], [103551110, 103551196], [103552595, 103552700], [103553669, 103553755], [103557736, 103557911], [103558598, 103559212], [103563491, 103563776], [103565801, 103565900], [103567486, 103567658], [103569940, 103570071], [103572786, 103572884], [103573311, 103573363], [103577580, 103578222]]	[[103546207, 103546344], [103547120, 103547280], [103550652, 103550845], [103551110, 103551196], [103552595, 103552700], [103553669, 103553755], [103557736, 103557911], [103558598, 103559212], [103563491, 103563776], [103565801, 103565900], [103567486, 103567658], [103569940, 103570071], [103572786, 103572884], [103573311, 103573363], [103577580, 103577779]]

Promoter

Chrom	Start	End	Description
chr10	103559060	103559112	CAGE_peak_4_at_MGEA5_5end
chr10	103559116	103559178	CAGE_peak_3_at_MGEA5_5end
chr10	103578162	103578173	CAGE_peak_2_at_MGEA5_5end
chr10	103578182	103578217	CAGE_peak_1_at_MGEA5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I102111	102111944	102123523	2.59	[{'connected_gene': 'LDB1', 'score': 573.75}, {'connected_gene': 'HPS6', 'score': 19.87}, {'connected_gene': 'PPRC1', 'score': 13.82}, {'connected_gene': 'NFKB2', 'score': 13.7}, {'connected_gene': 'NOLC1', 'score': 11.71}, {'connected_gene': 'BORCS7', 'score': 6.22}, {'connected_gene': 'C10orf95', 'score': 4.36}, {'connected_gene': 'KCNIP2-AS1', 'score': 4.19}, {'connected_gene': 'KCNIP2', 'score': 4.08}, {'connected_gene': 'PSD', 'score': 3.0}, {'connected_gene': 'MGEA5', 'score': 2.72}, {'connected_gene': 'FBXL15', 'score': 2.56}, {'connected_gene': 'C10orf76', 'score': 1.88}, {'connected_gene': 'SUFU', 'score': 1.68}, {'connected_gene': 'MFSD13A', 'score': 1.48}, {'connected_gene': 'LOC105378459', 'score': 0.77}, {'connected_gene': 'PIR53149', 'score': 0.44}]
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	GH10I102000	102000169	102004587	1.28	[{'connected_gene': 'HPS6', 'score': 40.59}, {'connected_gene': 'GBF1', 'score': 33.46}, {'connected_gene': 'PPRC1', 'score': 28.79}, {'connected_gene': 'KCNIP2-AS1', 'score': 20.63}, {'connected_gene': 'LDB1', 'score': 20.28}, {'connected_gene': 'ARL3', 'score': 14.53}, {'connected_gene': 'KCNIP2', 'score': 11.87}, {'connected_gene': 'C10orf76', 'score': 10.99}, {'connected_gene': 'MGEA5', 'score': 10.13}, {'connected_gene': 'SFXN2', 'score': 9.87}, {'connected_gene': 'NFKB2', 'score': 6.2}, {'connected_gene': 'WBP1L', 'score': 4.38}, {'connected_gene': 'ENSG00000222430', 'score': 0.25}]
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	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	GH10I101781	101781922	101785228	1.98	[{'connected_gene': 'NPM3', 'score': 557.51}, {'connected_gene': 'NFKB2', 'score': 11.42}, {'connected_gene': 'WBP1L', 'score': 3.79}, {'connected_gene': 'MGEA5', 'score': 0.28}]
chr10	GH10I101814	101814173	101820044	2.3	[{'connected_gene': 'KCNIP2-AS1', 'score': 550.77}, {'connected_gene': 'MGEA5', 'score': 550.77}, {'connected_gene': 'PPRC1', 'score': 31.46}, {'connected_gene': 'HPS6', 'score': 28.21}, {'connected_gene': 'LDB1', 'score': 21.66}, {'connected_gene': 'GBF1', 'score': 21.36}, {'connected_gene': 'MRPL43', 'score': 15.11}, {'connected_gene': 'TWNK', 'score': 10.81}, {'connected_gene': 'SUFU', 'score': 10.73}, {'connected_gene': 'NPM3', 'score': 6.65}, {'connected_gene': 'KCNIP2', 'score': 5.72}, {'connected_gene': 'GC10M101802', 'score': 0.29}]