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
ENST00000417669	[[43807201, 43807567], [43820913, 43821215], [43830953, 43831135], [43870615, 43870841], [43894114, 43894230], [43898523, 43898637], [43901377, 43903728]]	[[43820991, 43821215], [43830953, 43831135], [43870615, 43870841], [43894114, 43894230], [43898523, 43898637], [43901377, 43901496]]
ENST00000334209	[[43808018, 43808164], [43820913, 43821215], [43830953, 43831087]]	[[43820991, 43821215], [43830953, 43831087]]
ENST00000414469	[[43808019, 43808164], [43830953, 43831135], [43870615, 43870841], [43894114, 43894230], [43898523, 43898637], [43901377, 43901543]]	[[43831047, 43831135], [43870615, 43870841], [43894114, 43894230], [43898523, 43898637], [43901377, 43901496]]
ENST00000439548	[[43808019, 43808164], [43870615, 43870841], [43894114, 43894230], [43898523, 43898637], [43901377, 43901850]]	[[43870683, 43870841], [43894114, 43894230], [43898523, 43898637], [43901377, 43901496]]
ENST00000443721	[[43808019, 43808164], [43820913, 43821215], [43830953, 43831135], [43870615, 43870841], [43894114, 43894230], [43898523, 43898637], [43901377, 43902799]]	[[43820991, 43821215], [43830953, 43831135], [43870615, 43870841], [43894114, 43894230], [43898523, 43898637], [43901377, 43901496]]
ENST00000447567	[[43812460, 43812519], [43812653, 43813020], [43820913, 43821215]]	[[43820991, 43821215]]
ENST00000465861	[[43812621, 43813020], [43813662, 43815206]]	None
ENST00000480239	[[43812760, 43813020], [43820913, 43821231]]	None
ENST00000542779	[[43812874, 43813020], [43820913, 43821215], [43830953, 43831135], [43870615, 43870841], [43894114, 43894230], [43898523, 43898637], [43901377, 43901774]]	[[43820991, 43821215], [43830953, 43831135], [43870615, 43870841], [43894114, 43894230], [43898523, 43898637], [43901377, 43901496]]
ENST00000538182	[[43813760, 43814122], [43820913, 43821215], [43830953, 43831135], [43870615, 43870841], [43894114, 43894230], [43898523, 43898637], [43901377, 43901913]]	[[43814101, 43814122], [43820913, 43821215], [43830953, 43831135], [43870615, 43870841], [43894114, 43894230], [43898523, 43898637], [43901377, 43901496]]
NM_001044370	[[43808019, 43808164], [43820913, 43821215], [43830953, 43831135], [43870615, 43870841], [43894114, 43894230], [43898523, 43898637], [43901377, 43902800]]	[[43820991, 43821215], [43830953, 43831135], [43870615, 43870841], [43894114, 43894230], [43898523, 43898637], [43901377, 43901496]]

Promoter

Chrom	Start	End	Description
chr22	43807500	43807542	CAGE_peak_6_at_MPPED1_5end
chr22	43807919	43807940	CAGE_peak_3_at_MPPED1_5end
chr22	43808014	43808029	CAGE_peak_2_at_MPPED1_5end
chr22	43808035	43808036	CAGE_peak_14_at_MPPED1_5end
chr22	43808085	43808135	CAGE_peak_1_at_MPPED1_5end
chr22	43813469	43813479	CAGE_peak_9_at_MPPED1_5end
chr22	43820854	43820888	CAGE_peak_5_at_MPPED1_5end
chr22	43820905	43820917	CAGE_peak_10_at_MPPED1_5end
chr22	43821065	43821115	CAGE_peak_4_at_MPPED1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr22	GH22I043376	43376814	43379034	1.06	[{'connected_gene': 'SCUBE1', 'score': 12.52}, {'connected_gene': 'LOC101927447', 'score': 12.37}, {'connected_gene': 'MPPED1', 'score': 11.77}, {'connected_gene': 'ENSG00000234892', 'score': 11.29}, {'connected_gene': 'MCAT', 'score': 5.02}, {'connected_gene': 'LOC105373053', 'score': 0.39}]
chr22	GH22I043415	43415210	43415605	0.22	[{'connected_gene': 'MPPED1', 'score': 13.7}, {'connected_gene': 'SCUBE1', 'score': 3.98}, {'connected_gene': 'TTLL1', 'score': 2.68}, {'connected_gene': 'SULT4A1', 'score': 1.18}, {'connected_gene': 'GC22P043447', 'score': 0.29}]
chr22	GH22I043436	43436342	43436491	0.66	[{'connected_gene': 'MPPED1', 'score': 12.27}, {'connected_gene': 'GC22P043447', 'score': 0.39}]
chr22	GH22I043412	43412044	43412103	0.73	[{'connected_gene': 'MPPED1', 'score': 550.77}, {'connected_gene': 'GC22P043447', 'score': 0.28}]
chr22	GH22I043422	43422364	43422423	0.5	[{'connected_gene': 'MPPED1', 'score': 550.39}, {'connected_gene': 'GC22P043447', 'score': 0.31}]
chr22	GH22I043897	43897624	43898407	0.49	[{'connected_gene': 'EFCAB6', 'score': 20.57}, {'connected_gene': 'PNPLA3', 'score': 12.27}, {'connected_gene': 'SULT4A1', 'score': 11.36}, {'connected_gene': 'MPPED1', 'score': 10.11}, {'connected_gene': 'PNPLA5', 'score': 0.44}]
chr22	GH22I042766	42766937	42767148	0.33	[{'connected_gene': 'A4GALT', 'score': 12.4}, {'connected_gene': 'MPPED1', 'score': 4.36}, {'connected_gene': 'NFAM1', 'score': 4.25}, {'connected_gene': 'ARFGAP3', 'score': 4.11}, {'connected_gene': 'POLDIP3', 'score': 1.53}, {'connected_gene': 'ENSG00000200448', 'score': 0.77}, {'connected_gene': 'GC22M042763', 'score': 0.77}, {'connected_gene': 'RPL5P34', 'score': 0.39}]
chr22	GH22I043480	43480001	43480400	0.38	[{'connected_gene': 'SERHL2', 'score': 4.2}, {'connected_gene': 'GC22P043447', 'score': 0.29}, {'connected_gene': 'EFCAB6-AS1', 'score': 0.28}, {'connected_gene': 'MPPED1', 'score': 0.2}]
chr22	GH22I043226	43226305	43227294	0.58	[{'connected_gene': 'TTLL12', 'score': 12.77}, {'connected_gene': 'LOC101927447', 'score': 10.81}, {'connected_gene': 'SCUBE1', 'score': 10.69}, {'connected_gene': 'MCAT', 'score': 10.3}, {'connected_gene': 'MPPED1', 'score': 10.24}, {'connected_gene': 'ENSG00000234892', 'score': 0.44}, {'connected_gene': 'LOC105373051', 'score': 0.39}]
chr22	GH22I043481	43481401	43482400	0.63	[{'connected_gene': 'GC22P043447', 'score': 0.29}, {'connected_gene': 'EFCAB6-AS1', 'score': 0.29}, {'connected_gene': 'MPPED1', 'score': 0.19}]