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
ENST00000430487	[[48844936, 48845034], [48848305, 48848429], [48869540, 48869596], [48872171, 48872256], [48873591, 48874181], [48896860, 48897121], [48898729, 48898819], [48906473, 48906742]]	[[48845013, 48845034], [48848305, 48848429], [48869540, 48869596], [48872171, 48872256], [48873591, 48874181], [48896860, 48897121], [48898729, 48898819], [48906473, 48906581]]
ENST00000403751	[[48844976, 48845034], [48847989, 48848091], [48848305, 48848429], [48869540, 48869596], [48872171, 48872256], [48873591, 48874181], [48896860, 48897121], [48898729, 48898819], [48906473, 48906746]]	[[48845013, 48845034], [48847989, 48848091], [48848305, 48848429], [48869540, 48869596], [48872171, 48872256], [48873591, 48874181], [48896860, 48897121], [48898729, 48898819], [48906473, 48906581]]
ENST00000448460	[[48844936, 48845034], [48848305, 48848429], [48869540, 48869596], [48872171, 48872256], [48873591, 48873799]]	[[48845013, 48845034], [48848305, 48848429], [48869540, 48869596], [48872171, 48872256], [48873591, 48873799]]
ENST00000437125	[[48844936, 48845034], [48847989, 48848091], [48848305, 48848456], [48869540, 48869596], [48872171, 48872256], [48873591, 48874181]]	[[48845013, 48845034], [48847989, 48848091], [48848305, 48848456], [48869540, 48869596], [48872171, 48872256], [48873591, 48874181]]
ENST00000423675	[[48844986, 48845034], [48848305, 48848443], [48869540, 48869596], [48872171, 48872256], [48873591, 48873737]]	[[48845013, 48845034], [48848305, 48848443], [48869540, 48869549]]
ENST00000468326	[[48844994, 48845034], [48845162, 48845254], [48847989, 48848091], [48848305, 48848429], [48869540, 48869596], [48872171, 48872256], [48873591, 48873692]]	None
ENST00000508440	[[48896935, 48897121], [48898729, 48898819], [48960031, 48960287]]	[[48896935, 48897121], [48898729, 48898819], [48960031, 48960064]]
NM_001193487	[[48844918, 48845034], [48848305, 48848429], [48869540, 48869596], [48872171, 48872256], [48873591, 48874181], [48896860, 48897121], [48898729, 48898819], [48906473, 48906748]]	[[48845013, 48845034], [48848305, 48848429], [48869540, 48869596], [48872171, 48872256], [48873591, 48874181], [48896860, 48897121], [48898729, 48898819], [48906473, 48906581]]
NM_006872	[[48844918, 48845034], [48847989, 48848091], [48848305, 48848429], [48869540, 48869596], [48872171, 48872256], [48873591, 48874181], [48896860, 48897121], [48898729, 48898819], [48906473, 48906748]]	[[48845013, 48845034], [48847989, 48848091], [48848305, 48848429], [48869540, 48869596], [48872171, 48872256], [48873591, 48874181], [48896860, 48897121], [48898729, 48898819], [48906473, 48906581]]

Promoter

Chrom	Start	End	Description
chr2	48844965	48844969	CAGE_peak_2_at_GTF2A1L_5end
chr2	48844973	48844975	CAGE_peak_3_at_GTF2A1L_5end
chr2	48844979	48845000	CAGE_peak_1_at_GTF2A1L_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I048713	48713485	48716524	1.01	[{'connected_gene': 'LHCGR', 'score': 9.67}, {'connected_gene': 'STON1-GTF2A1L', 'score': 8.24}, {'connected_gene': 'STON1', 'score': 2.06}, {'connected_gene': 'ENSG00000279956', 'score': 0.26}, {'connected_gene': 'GC02P048647', 'score': 0.2}, {'connected_gene': 'GTF2A1L', 'score': 0.15}]
chr2	GH02I048342	48342690	48347058	1.68	[{'connected_gene': 'FOXN2', 'score': 47.41}, {'connected_gene': 'PPP1R21', 'score': 21.59}, {'connected_gene': 'MSH6', 'score': 19.35}, {'connected_gene': 'RPL36AP15', 'score': 11.07}, {'connected_gene': 'GTF2A1L', 'score': 4.59}, {'connected_gene': 'GC02M048341', 'score': 0.77}, {'connected_gene': 'RNU4-49P', 'score': 0.77}, {'connected_gene': 'GC02M048365', 'score': 0.34}]
chr2	GH02I048405	48405980	48407478	0.31	[{'connected_gene': 'FOXN2', 'score': 53.82}, {'connected_gene': 'PPP1R21', 'score': 28.02}, {'connected_gene': 'GTF2A1L', 'score': 6.05}, {'connected_gene': 'GC02M048388', 'score': 0.37}, {'connected_gene': 'ENSG00000272663', 'score': 0.29}, {'connected_gene': 'GC02P048370', 'score': 0.28}]
chr2	GH02I048042	48042743	48044801	0.38	[{'connected_gene': 'FOXN2', 'score': 32.46}, {'connected_gene': 'GTF2A1L', 'score': 7.7}, {'connected_gene': 'PPP1R21', 'score': 5.32}, {'connected_gene': 'GC02M048066', 'score': 0.34}, {'connected_gene': 'LOC105374591', 'score': 0.28}, {'connected_gene': 'ENSG00000230773', 'score': 0.08}]
chr2	GH02I048311	48311642	48317870	2.31	[{'connected_gene': 'FOXN2', 'score': 554.88}, {'connected_gene': 'LOC105374593', 'score': 550.77}, {'connected_gene': 'PPP1R21', 'score': 24.12}, {'connected_gene': 'STON1-GTF2A1L', 'score': 4.93}, {'connected_gene': 'GTF2A1L', 'score': 4.59}, {'connected_gene': 'GC02P048318', 'score': 0.77}]
chr2	GH02I048046	48046762	48047882	0.79	[{'connected_gene': 'MSH6', 'score': 7.96}, {'connected_gene': 'GTF2A1L', 'score': 6.44}, {'connected_gene': 'PPP1R21', 'score': 5.73}, {'connected_gene': 'GC02M048066', 'score': 0.37}, {'connected_gene': 'LOC105374591', 'score': 0.26}, {'connected_gene': 'ENSG00000230773', 'score': 0.08}]
chr2	GH02I047785	47785601	47786800	0.77	[{'connected_gene': 'MSH6', 'score': 13.82}, {'connected_gene': 'GTF2A1L', 'score': 5.14}, {'connected_gene': 'ENSG00000283502', 'score': 0.77}, {'connected_gene': 'GC02M047790', 'score': 0.44}]
chr2	GH02I048722	48722247	48723874	0.43	[{'connected_gene': 'STON1-GTF2A1L', 'score': 7.57}, {'connected_gene': 'LHCGR', 'score': 0.29}, {'connected_gene': 'ENSG00000279956', 'score': 0.29}, {'connected_gene': 'GC02P048647', 'score': 0.18}, {'connected_gene': 'GTF2A1L', 'score': 0.14}]
chr2	GH02I048568	48568939	48568998	0.5	[{'connected_gene': 'STON1-GTF2A1L', 'score': 561.76}, {'connected_gene': 'STON1', 'score': 11.76}, {'connected_gene': 'GC02M048558', 'score': 0.44}, {'connected_gene': 'GTF2A1L', 'score': 0.25}]
chr2	GH02I048572	48572707	48573317	0.75	[{'connected_gene': 'STON1-GTF2A1L', 'score': 26.02}, {'connected_gene': 'GTF2A1L', 'score': 17.5}, {'connected_gene': 'STON1', 'score': 11.17}, {'connected_gene': 'RNU6-282P', 'score': 10.25}, {'connected_gene': 'PPP1R21', 'score': 10.18}, {'connected_gene': 'GC02M048558', 'score': 0.44}]
chr2	GH02I048584	48584662	48586684	0.59	[{'connected_gene': 'STON1-GTF2A1L', 'score': 26.24}, {'connected_gene': 'GTF2A1L', 'score': 18.13}, {'connected_gene': 'STON1', 'score': 11.0}, {'connected_gene': 'RNU6-282P', 'score': 10.29}, {'connected_gene': 'PPP1R21', 'score': 10.22}, {'connected_gene': 'GC02M048558', 'score': 0.34}]
chr2	GH02I048605	48605469	48606491	0.91	[{'connected_gene': 'STON1-GTF2A1L', 'score': 17.78}, {'connected_gene': 'RNU6-282P', 'score': 9.92}, {'connected_gene': 'PPP1R21', 'score': 9.87}, {'connected_gene': 'FOXN2', 'score': 5.12}, {'connected_gene': 'GTF2A1L', 'score': 0.39}, {'connected_gene': 'GC02M048558', 'score': 0.26}]
chr2	GH02I048580	48580583	48580642	0.5	[{'connected_gene': 'STON1-GTF2A1L', 'score': 550.23}, {'connected_gene': 'RNU6-282P', 'score': 10.3}, {'connected_gene': 'PPP1R21', 'score': 10.23}, {'connected_gene': 'GC02M048558', 'score': 0.37}, {'connected_gene': 'GTF2A1L', 'score': 0.28}, {'connected_gene': 'STON1', 'score': 0.23}]
chr2	GH02I048105	48105785	48108527	1.18	[{'connected_gene': 'STON1-GTF2A1L', 'score': 12.53}, {'connected_gene': 'LOC100506235', 'score': 12.22}, {'connected_gene': 'FBXO11', 'score': 12.22}, {'connected_gene': 'STON1', 'score': 11.84}, {'connected_gene': 'GTF2A1L', 'score': 11.51}, {'connected_gene': 'FOXN2', 'score': 11.47}, {'connected_gene': 'MSH6', 'score': 11.18}, {'connected_gene': 'PPP1R21', 'score': 11.1}, {'connected_gene': 'RNU6-282P', 'score': 9.44}, {'connected_gene': 'GC02P048073', 'score': 0.29}, {'connected_gene': 'GC02P048218', 'score': 0.14}, {'connected_gene': 'ENSG00000230773', 'score': 0.12}]
chr2	GH02I048330	48330167	48331314	0.31	[{'connected_gene': 'PPP1R21', 'score': 22.29}, {'connected_gene': 'FBXO11', 'score': 10.19}, {'connected_gene': 'LOC100506235', 'score': 10.19}, {'connected_gene': 'GTF2A1L', 'score': 5.16}, {'connected_gene': 'FOXN2', 'score': 4.61}, {'connected_gene': 'RNU4-49P', 'score': 0.39}, {'connected_gene': 'GC02P048318', 'score': 0.39}, {'connected_gene': 'GC02M048341', 'score': 0.39}]
chr2	GH02I048419	48419867	48421471	1.4	[{'connected_gene': 'PPP1R21', 'score': 33.09}, {'connected_gene': 'FOXN2', 'score': 10.94}, {'connected_gene': 'STON1-GTF2A1L', 'score': 6.24}, {'connected_gene': 'GTF2A1L', 'score': 5.73}, {'connected_gene': 'ENSG00000272663', 'score': 0.37}, {'connected_gene': 'GC02M048388', 'score': 0.29}, {'connected_gene': 'GC02P048370', 'score': 0.23}]
chr2	GH02I048324	48324122	48327684	0.43	[{'connected_gene': 'PPP1R21', 'score': 21.48}, {'connected_gene': 'FOXN2', 'score': 6.25}, {'connected_gene': 'GTF2A1L', 'score': 4.8}, {'connected_gene': 'STON1', 'score': 4.18}, {'connected_gene': 'GC02P048318', 'score': 0.44}, {'connected_gene': 'RNU4-49P', 'score': 0.39}, {'connected_gene': 'GC02M048341', 'score': 0.39}]
chr2	GH02I048439	48439692	48441934	2.24	[{'connected_gene': 'PPP1R21', 'score': 570.94}, {'connected_gene': 'ENSG00000272663', 'score': 558.19}, {'connected_gene': 'GC02M048441', 'score': 550.77}, {'connected_gene': 'MSH6', 'score': 13.27}, {'connected_gene': 'RPL36AP15', 'score': 10.51}, {'connected_gene': 'RNU6-282P', 'score': 10.4}, {'connected_gene': 'GTF2A1L', 'score': 9.75}, {'connected_gene': 'PIR50991', 'score': 0.44}, {'connected_gene': 'GC02M048449', 'score': 0.44}, {'connected_gene': 'GC02P048370', 'score': 0.19}]
chr2	GH02I048352	48352126	48354599	1.09	[{'connected_gene': 'PPP1R21', 'score': 14.52}, {'connected_gene': 'STON1-GTF2A1L', 'score': 12.25}, {'connected_gene': 'GTF2A1L', 'score': 6.96}, {'connected_gene': 'FOXN2', 'score': 4.72}, {'connected_gene': 'RNU4-49P', 'score': 0.39}, {'connected_gene': 'GC02M048341', 'score': 0.39}, {'connected_gene': 'GC02M048365', 'score': 0.37}]
chr2	GH02I048543	48543634	48549989	0.72	[{'connected_gene': 'PPP1R21', 'score': 38.41}, {'connected_gene': 'STON1-GTF2A1L', 'score': 15.64}, {'connected_gene': 'RNU6-282P', 'score': 11.2}, {'connected_gene': 'GTF2A1L', 'score': 11.02}, {'connected_gene': 'STON1', 'score': 8.91}, {'connected_gene': 'GC02P048542', 'score': 0.44}, {'connected_gene': 'GC02M048558', 'score': 0.37}]
chr2	GH02I048519	48519162	48520009	0.51	[{'connected_gene': 'PPP1R21', 'score': 34.86}, {'connected_gene': 'STON1', 'score': 6.67}, {'connected_gene': 'GTF2A1L', 'score': 4.34}, {'connected_gene': 'GC02M048502', 'score': 0.37}, {'connected_gene': 'RNU6-282P', 'score': 0.37}]
chr2	GH02I048423	48423022	48424011	0.74	[{'connected_gene': 'PPP1R21', 'score': 30.94}, {'connected_gene': 'GTF2A1L', 'score': 5.95}, {'connected_gene': 'ENSG00000272663', 'score': 0.37}, {'connected_gene': 'GC02M048388', 'score': 0.29}, {'connected_gene': 'GC02P048370', 'score': 0.23}]
chr2	GH02I048461	48461987	48464328	0.31	[{'connected_gene': 'PPP1R21', 'score': 45.97}, {'connected_gene': 'RNU6-282P', 'score': 11.59}, {'connected_gene': 'GTF2A1L', 'score': 6.05}, {'connected_gene': 'FOXN2', 'score': 4.66}, {'connected_gene': 'GC02M048450', 'score': 0.44}, {'connected_gene': 'GC02M048502', 'score': 0.28}, {'connected_gene': 'GC02P048370', 'score': 0.16}]
chr2	GH02I048529	48529034	48532186	2.03	[{'connected_gene': 'STON1', 'score': 555.2}, {'connected_gene': 'STON1-GTF2A1L', 'score': 550.77}, {'connected_gene': 'PPP1R21', 'score': 32.08}, {'connected_gene': 'FOXN2', 'score': 6.1}, {'connected_gene': 'GTF2A1L', 'score': 4.62}, {'connected_gene': 'GC02P048542', 'score': 0.39}]
chr2	GH02I048566	48566702	48566851	0.38	[{'connected_gene': 'STON1', 'score': 11.76}, {'connected_gene': 'STON1-GTF2A1L', 'score': 11.76}, {'connected_gene': 'GC02M048558', 'score': 0.77}, {'connected_gene': 'GTF2A1L', 'score': 0.23}]
chr2	GH02I048527	48527177	48528577	0.51	[{'connected_gene': 'STON1', 'score': 557.3}, {'connected_gene': 'GTF2A1L', 'score': 14.54}, {'connected_gene': 'PPP1R21', 'score': 5.23}, {'connected_gene': 'GC02M048502', 'score': 0.31}, {'connected_gene': 'RNU6-282P', 'score': 0.31}]
chr2	GH02I048693	48693142	48695071	0.31	[{'connected_gene': 'GTF2A1L', 'score': 10.74}, {'connected_gene': 'GC02P048647', 'score': 0.25}, {'connected_gene': 'LHCGR', 'score': 0.21}, {'connected_gene': 'ENSG00000279956', 'score': 0.21}, {'connected_gene': 'STON1-GTF2A1L', 'score': 0.1}]
chr2	GH02I048607	48607342	48607491	0.46	[{'connected_gene': 'GTF2A1L', 'score': 18.2}, {'connected_gene': 'STON1-GTF2A1L', 'score': 11.07}, {'connected_gene': 'RNU6-282P', 'score': 9.92}, {'connected_gene': 'PPP1R21', 'score': 9.87}, {'connected_gene': 'GC02M048558', 'score': 0.26}]
chr2	GH02I048617	48617807	48617866	0.61	[{'connected_gene': 'GTF2A1L', 'score': 564.85}, {'connected_gene': 'GC02M048618', 'score': 0.77}, {'connected_gene': 'STON1-GTF2A1L', 'score': 0.17}]
chr2	GH02I048048	48048119	48052093	0.52	[{'connected_gene': 'GTF2A1L', 'score': 8.54}, {'connected_gene': 'PPP1R21', 'score': 5.73}, {'connected_gene': 'GC02M048066', 'score': 0.37}, {'connected_gene': 'LOC105374591', 'score': 0.25}, {'connected_gene': 'ENSG00000230773', 'score': 0.08}]
chr2	GH02I048589	48589201	48589400	0.56	[{'connected_gene': 'GTF2A1L', 'score': 0.31}, {'connected_gene': 'GC02M048558', 'score': 0.31}, {'connected_gene': 'STON1', 'score': 0.22}, {'connected_gene': 'STON1-GTF2A1L', 'score': 0.22}]
chr2	GH02I048497	48497042	48497191	0.31	[{'connected_gene': 'GTF2A1L', 'score': 4.41}, {'connected_gene': 'GC02M048502', 'score': 0.77}, {'connected_gene': 'RNU6-282P', 'score': 0.77}, {'connected_gene': 'GC02M048450', 'score': 0.28}, {'connected_gene': 'PPP1R21', 'score': 0.22}]
chr2	GH02I048175	48175201	48175601	0.49	[{'connected_gene': 'GTF2A1L', 'score': 5.12}, {'connected_gene': 'GC02P048218', 'score': 0.26}, {'connected_gene': 'ENSG00000230773', 'score': 0.2}, {'connected_gene': 'GC02P048073', 'score': 0.15}, {'connected_gene': 'LOC105374593', 'score': 0.12}]
chr2	GH02I048174	48174401	48175000	0.73	[{'connected_gene': 'GTF2A1L', 'score': 4.35}, {'connected_gene': 'GC02P048218', 'score': 0.26}, {'connected_gene': 'ENSG00000230773', 'score': 0.2}, {'connected_gene': 'GC02P048073', 'score': 0.15}, {'connected_gene': 'LOC105374593', 'score': 0.12}]
chr2	GH02I048341	48341601	48342000	0.51	[{'connected_gene': 'RNU4-49P', 'score': 550.77}, {'connected_gene': 'GC02M048341', 'score': 550.77}, {'connected_gene': 'PPP1R21', 'score': 10.74}, {'connected_gene': 'GTF2A1L', 'score': 4.59}, {'connected_gene': 'GC02M048365', 'score': 0.31}, {'connected_gene': 'FOXN2', 'score': 0.31}]
chr2	GH02I048608	48607622	48607771	0.8	[{'connected_gene': 'RNU6-282P', 'score': 9.92}, {'connected_gene': 'PPP1R21', 'score': 9.87}, {'connected_gene': 'GTF2A1L', 'score': 5.01}, {'connected_gene': 'GC02M048558', 'score': 0.26}, {'connected_gene': 'STON1-GTF2A1L', 'score': 0.18}]
chr2	GH02I048587	48587602	48587751	0.2	[{'connected_gene': 'RNU6-282P', 'score': 10.55}, {'connected_gene': 'PPP1R21', 'score': 10.49}, {'connected_gene': 'GC02M048558', 'score': 0.34}, {'connected_gene': 'GTF2A1L', 'score': 0.29}, {'connected_gene': 'STON1', 'score': 0.22}, {'connected_gene': 'STON1-GTF2A1L', 'score': 0.22}]
chr2	GH02I048699	48699209	48700099	0.38	[{'connected_gene': 'GC02P048647', 'score': 0.23}, {'connected_gene': 'LHCGR', 'score': 0.22}, {'connected_gene': 'ENSG00000279956', 'score': 0.22}, {'connected_gene': 'GTF2A1L', 'score': 0.18}, {'connected_gene': 'STON1-GTF2A1L', 'score': 0.1}]
chr2	GH02I048455	48455661	48459011	0.2	[{'connected_gene': 'GC02M048450', 'score': 550.77}, {'connected_gene': 'FOXN2', 'score': 37.55}, {'connected_gene': 'RNU6-282P', 'score': 11.52}, {'connected_gene': 'STON1-GTF2A1L', 'score': 6.9}, {'connected_gene': 'PPP1R21', 'score': 6.57}, {'connected_gene': 'GTF2A1L', 'score': 4.07}, {'connected_gene': 'GC02M048502', 'score': 0.26}, {'connected_gene': 'GC02P048370', 'score': 0.17}]
chr2	GH02I048539	48539934	48540550	0.2	[{'connected_gene': 'GC02P048542', 'score': 550.77}, {'connected_gene': 'RNU6-282P', 'score': 11.06}, {'connected_gene': 'PPP1R21', 'score': 10.94}, {'connected_gene': 'GTF2A1L', 'score': 4.45}, {'connected_gene': 'STON1', 'score': 0.39}, {'connected_gene': 'STON1-GTF2A1L', 'score': 0.39}]