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
ENST00000296411	[[99916770, 99917018], [99950017, 99950069], [99955380, 99955493], [99956550, 99956611], [99960524, 99960616], [99962193, 99962277], [99964399, 99964538], [99966329, 99966461], [99969883, 99970027], [99978903, 99978969], [99982304, 99983964]]	[[99916904, 99917018], [99950017, 99950069], [99955380, 99955493], [99956550, 99956611], [99960524, 99960616], [99962193, 99962277], [99964399, 99964538], [99966329, 99966461], [99969883, 99970027], [99978903, 99978969], [99982304, 99982468]]
ENST00000510209	[[99916809, 99917018], [99950017, 99950069], [99955383, 99955493], [99956550, 99956611], [99957193, 99957240], [99959085, 99959092], [99960524, 99960597]]	None
ENST00000507537	[[99916871, 99917018], [99926919, 99927017], [99950017, 99950069], [99955380, 99955493], [99956550, 99956611], [99960524, 99960616], [99962193, 99962277], [99964399, 99964470]]	[[99916904, 99917018], [99926919, 99926952]]
ENST00000506238	[[99916890, 99917018], [99926919, 99927017], [99950017, 99950069], [99955380, 99955493], [99956550, 99956611], [99957193, 99957240], [99960544, 99960598]]	[[99916904, 99917018], [99926919, 99926952]]
ENST00000503247	[[99916916, 99917018], [99926919, 99927021], [99950017, 99950069], [99955380, 99955493], [99956550, 99956611], [99957193, 99957240], [99960524, 99960616], [99962193, 99962277]]	[[99916916, 99917018], [99926919, 99926952]]
ENST00000510107	[[99916980, 99917018], [99950017, 99950069], [99952658, 99952813], [99955380, 99955493], [99956550, 99956611], [99958917, 99959092], [99960524, 99960616], [99962193, 99962277]]	[[99916980, 99917018], [99950017, 99950069], [99952658, 99952684]]
ENST00000513199	[[99943445, 99943575], [99950017, 99950069], [99955380, 99955493], [99956550, 99956611], [99957104, 99957162], [99960524, 99960616], [99962193, 99962277], [99964399, 99964422]]	None
ENST00000506548	[[99943922, 99944410], [99950017, 99950069], [99955380, 99955493], [99956550, 99956611]]	None
ENST00000544031	[[99952797, 99952813], [99955380, 99955493], [99956550, 99956611], [99960524, 99960616], [99962193, 99962277], [99964399, 99964538], [99966329, 99966461], [99969883, 99970027], [99978903, 99978969], [99982304, 99983959]]	[[99952797, 99952813], [99955380, 99955493], [99956550, 99956611], [99960524, 99960616], [99962193, 99962277], [99964399, 99964538], [99966329, 99966461], [99969883, 99970027], [99978903, 99978969], [99982304, 99982468]]
ENST00000513097	[[99960353, 99960616], [99962193, 99962277], [99964399, 99964538], [99966329, 99966429]]	None
ENST00000510133	[[99964399, 99964538], [99969883, 99970027], [99978903, 99978969], [99982304, 99982670]]	[[99964399, 99964538], [99969883, 99970027], [99978903, 99978969], [99982304, 99982468]]
ENST00000514051	[[99966340, 99966461], [99978903, 99978969], [99982304, 99983175]]	[[99966340, 99966461], [99978903, 99978969], [99982304, 99982468]]
NM_015143	[[99916787, 99917018], [99950017, 99950069], [99955380, 99955493], [99956550, 99956611], [99960524, 99960616], [99962193, 99962277], [99964399, 99964538], [99966329, 99966461], [99969883, 99970027], [99978903, 99978969], [99982304, 99983960]]	[[99916904, 99917018], [99950017, 99950069], [99955380, 99955493], [99956550, 99956611], [99960524, 99960616], [99962193, 99962277], [99964399, 99964538], [99966329, 99966461], [99969883, 99970027], [99978903, 99978969], [99982304, 99982468]]

Promoter

Chrom	Start	End	Description
chr4	99916753	99916764	CAGE_peak_4_at_METAP1_5end
chr4	99916765	99916776	CAGE_peak_3_at_METAP1_5end
chr4	99916835	99916857	CAGE_peak_2_at_METAP1_5end
chr4	99916860	99916903	CAGE_peak_1_at_METAP1_5end
chr4	99943308	99943313	CAGE_peak_5_at_METAP1_5end
chr4	99943434	99943474	CAGE_peak_6_at_METAP1_5end
chr4	99943908	99943923	CAGE_peak_8_at_METAP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr15	GH15I043958	43958339	43959792	0.94	[{'connected_gene': 'TP53BP1', 'score': 8.25}, {'connected_gene': 'MAP1A', 'score': 1.53}, {'connected_gene': 'GC15M043974', 'score': 0.31}, {'connected_gene': 'PIN4P1', 'score': 0.18}, {'connected_gene': 'FRMD5', 'score': 0.07}]
chr15	GH15I043508	43508360	43511901	2.48	[{'connected_gene': 'TP53BP1', 'score': 566.51}, {'connected_gene': 'MAP1A', 'score': 554.25}, {'connected_gene': 'GC15M043498', 'score': 550.77}, {'connected_gene': 'ZSCAN29', 'score': 40.32}, {'connected_gene': 'CTDSPL2', 'score': 26.29}, {'connected_gene': 'ADAL', 'score': 24.88}, {'connected_gene': 'CDAN1', 'score': 22.93}, {'connected_gene': 'LRRC57', 'score': 15.16}, {'connected_gene': 'LCMT2', 'score': 12.91}, {'connected_gene': 'UBR1', 'score': 12.55}, {'connected_gene': 'MFAP1', 'score': 10.88}, {'connected_gene': 'WDR76', 'score': 10.8}, {'connected_gene': 'TGM7', 'score': 1.22}]
chr15	GH15I043512	43512314	43512546	0.31	[{'connected_gene': 'TP53BP1', 'score': 550.77}, {'connected_gene': 'MAP1A', 'score': 550.77}, {'connected_gene': 'GC15P043517', 'score': 0.77}]
chr15	GH15I043513	43513153	43519545	2.56	[{'connected_gene': 'MAP1A', 'score': 557.75}, {'connected_gene': 'GC15P043517', 'score': 550.77}, {'connected_gene': 'ZSCAN29', 'score': 24.55}, {'connected_gene': 'ADAL', 'score': 22.7}]
chr4	GH04I098994	98994326	98999450	2.24	[{'connected_gene': 'METAP1', 'score': 550.77}, {'connected_gene': 'MIR3684', 'score': 550.77}, {'connected_gene': 'ENSG00000272777', 'score': 27.97}, {'connected_gene': 'LOC100507053', 'score': 20.32}, {'connected_gene': 'EIF4E', 'score': 16.14}, {'connected_gene': 'ADH5', 'score': 11.14}, {'connected_gene': 'RNU7-149P', 'score': 11.02}, {'connected_gene': 'ADH1A', 'score': 4.63}, {'connected_gene': 'ADH4', 'score': 4.5}, {'connected_gene': 'ENSG00000263923', 'score': 0.2}]
chr15	GH15I043440	43440079	43442104	1.19	[{'connected_gene': 'ADAL', 'score': 40.04}, {'connected_gene': 'TGM7', 'score': 26.33}, {'connected_gene': 'MAP1A', 'score': 15.89}, {'connected_gene': 'TP53BP1', 'score': 11.41}, {'connected_gene': 'PIR42778', 'score': 0.37}, {'connected_gene': 'PIR48108', 'score': 0.31}]
chr15	GH15I043520	43520096	43520720	0.31	[{'connected_gene': 'ADAL', 'score': 28.57}, {'connected_gene': 'TGM7', 'score': 21.09}, {'connected_gene': 'RNU6-554P', 'score': 11.17}, {'connected_gene': 'STRC', 'score': 11.08}, {'connected_gene': 'GC15P043517', 'score': 0.77}, {'connected_gene': 'GC15P043528', 'score': 0.44}, {'connected_gene': 'MAP1A', 'score': 0.44}]
chr15	GH15I043526	43526756	43532530	0.43	[{'connected_gene': 'ZSCAN29', 'score': 23.78}, {'connected_gene': 'ADAL', 'score': 10.72}, {'connected_gene': 'CATSPER2', 'score': 9.03}, {'connected_gene': 'CATSPER2P1', 'score': 6.92}, {'connected_gene': 'GC15P043528', 'score': 0.77}, {'connected_gene': 'GC15M043530', 'score': 0.44}, {'connected_gene': 'MAP1A', 'score': 0.37}]
chr15	GH15I043521	43521799	43523663	0.2	[{'connected_gene': 'RNU6-554P', 'score': 11.18}, {'connected_gene': 'STRC', 'score': 11.08}, {'connected_gene': 'GC15P043528', 'score': 0.77}, {'connected_gene': 'GC15P043517', 'score': 0.44}, {'connected_gene': 'MAP1A', 'score': 0.39}]
chr4	GH04I099027	99027510	99027659	0.6	[{'connected_gene': 'ABT1P1', 'score': 0.77}, {'connected_gene': 'METAP1', 'score': 0.29}, {'connected_gene': 'ENSG00000272777', 'score': 0.26}]
chr4	GH04I099022	99022801	99026111	1.03	[{'connected_gene': 'ABT1P1', 'score': 550.77}, {'connected_gene': 'ENSG00000272777', 'score': 28.04}, {'connected_gene': 'LOC100507053', 'score': 7.8}, {'connected_gene': 'EIF4E', 'score': 5.8}, {'connected_gene': 'ADH5', 'score': 5.53}, {'connected_gene': 'METAP1', 'score': 0.31}]
chr4	GH04I099013	99013302	99014179	0.85	[{'connected_gene': 'ENSG00000272777', 'score': 26.35}, {'connected_gene': 'EIF4E', 'score': 5.89}, {'connected_gene': 'ABT1P1', 'score': 0.44}, {'connected_gene': 'METAP1', 'score': 0.37}, {'connected_gene': 'MIR3684', 'score': 0.37}]
chr15	GH15I043525	43525263	43526741	0.2	[{'connected_gene': 'GC15P043528', 'score': 550.77}, {'connected_gene': 'ADAL', 'score': 27.91}, {'connected_gene': 'TGM7', 'score': 21.42}, {'connected_gene': 'GC15P043517', 'score': 0.44}, {'connected_gene': 'MAP1A', 'score': 0.37}]
chr4	GH04I099042	99042413	99044566	0.2	[{'connected_gene': 'ENSG00000272777', 'score': 28.18}, {'connected_gene': 'RNU7-149P', 'score': 10.49}, {'connected_gene': 'LOC100507053', 'score': 8.02}, {'connected_gene': 'ADH1A', 'score': 4.14}, {'connected_gene': 'ABT1P1', 'score': 0.34}, {'connected_gene': 'METAP1', 'score': 0.25}]
chr4	GH04I099057	99057896	99063117	0.85	[{'connected_gene': 'ENSG00000272777', 'score': 29.12}, {'connected_gene': 'LOC100507053', 'score': 6.6}, {'connected_gene': 'ABT1P1', 'score': 0.28}, {'connected_gene': 'METAP1', 'score': 0.21}]
chr4	GH04I099056	99056000	99056400	1.01	[{'connected_gene': 'ENSG00000272777', 'score': 0.39}, {'connected_gene': 'ABT1P1', 'score': 0.29}, {'connected_gene': 'METAP1', 'score': 0.21}]