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
ENST00000510207	[[107236700, 107236793], [107246141, 107246275], [107248607, 107248721], [107249232, 107249400], [107252828, 107252887]]	[[107246166, 107246275], [107248607, 107248721], [107249232, 107249400], [107252828, 107252887]]
ENST00000442366	[[107236766, 107236793], [107246141, 107246275], [107248607, 107248721], [107249232, 107249400], [107252828, 107253040], [107258025, 107258194], [107268682, 107270377]]	[[107246166, 107246275], [107248607, 107248721], [107249232, 107249400], [107252828, 107253040], [107258025, 107258194], [107268682, 107268849]]
ENST00000358008	[[107236852, 107237501], [107246141, 107246275], [107248607, 107248721], [107249232, 107249400], [107252828, 107253040], [107258025, 107258194], [107268682, 107269648]]	[[107246166, 107246275], [107248607, 107248721], [107249232, 107249400], [107252828, 107253040], [107258025, 107258194], [107268682, 107268849]]
ENST00000394701	[[107237663, 107237751], [107246141, 107246275], [107248607, 107248721], [107249232, 107249400], [107252828, 107253040], [107258025, 107258194], [107268682, 107270383]]	[[107237704, 107237751], [107246141, 107246275], [107248607, 107248721], [107249232, 107249400], [107252828, 107253040], [107258025, 107258194], [107268682, 107268849]]
NM_001142415	[[107236766, 107236793], [107246141, 107246275], [107248607, 107248721], [107249232, 107249400], [107252828, 107253040], [107258025, 107258194], [107268682, 107270382]]	[[107246166, 107246275], [107248607, 107248721], [107249232, 107249400], [107252828, 107253040], [107258025, 107258194], [107268682, 107268849]]
NM_004757	[[107236852, 107237501], [107246141, 107246275], [107248607, 107248721], [107249232, 107249400], [107252828, 107253040], [107258025, 107258194], [107268682, 107270382]]	[[107246166, 107246275], [107248607, 107248721], [107249232, 107249400], [107252828, 107253040], [107258025, 107258194], [107268682, 107268849]]
NM_001142416	[[107237663, 107237751], [107246141, 107246275], [107248607, 107248721], [107249232, 107249400], [107252828, 107253040], [107258025, 107258194], [107268682, 107270382]]	[[107237704, 107237751], [107246141, 107246275], [107248607, 107248721], [107249232, 107249400], [107252828, 107253040], [107258025, 107258194], [107268682, 107268849]]

Promoter

Chrom	Start	End	Description
chr4	107236692	107236709	CAGE_peak_5_at_AIMP1_5end
chr4	107236722	107236748	CAGE_peak_3_at_AIMP1_5end
chr4	107236847	107236876	CAGE_peak_7_at_AIMP1_5end
chr4	107237085	107237126	CAGE_peak_4_at_AIMP1_5end
chr4	107237136	107237147	CAGE_peak_10_at_AIMP1_5end
chr4	107237244	107237257	CAGE_peak_8_at_AIMP1_5end
chr4	107237660	107237685	CAGE_peak_2_at_AIMP1_5end
chr4	107237688	107237717	CAGE_peak_1_at_AIMP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I106314	106314387	106318430	2.26	[{'connected_gene': 'TBCK', 'score': 558.34}, {'connected_gene': 'AIMP1', 'score': 550.77}, {'connected_gene': 'NPNT', 'score': 4.33}]
chr4	GH04I106343	106343837	106345504	0.67	[{'connected_gene': 'TBCK', 'score': 19.15}, {'connected_gene': 'AIMP1', 'score': 11.27}, {'connected_gene': 'GC04P106329', 'score': 0.39}, {'connected_gene': 'GIMD1', 'score': 0.34}]
chr4	GH04I106334	106334324	106335323	0.31	[{'connected_gene': 'TBCK', 'score': 8.25}, {'connected_gene': 'GC04P106329', 'score': 0.77}, {'connected_gene': 'AIMP1', 'score': 0.37}, {'connected_gene': 'GIMD1', 'score': 0.29}]
chr4	GH04I106358	106358693	106359551	0.38	[{'connected_gene': 'TBCK', 'score': 10.72}, {'connected_gene': 'AIMP1', 'score': 10.7}, {'connected_gene': 'GIMD1', 'score': 0.44}, {'connected_gene': 'GC04P106329', 'score': 0.31}]
chr4	GH04I106266	106266200	106266600	0.69	[{'connected_gene': 'TBCK', 'score': 16.98}, {'connected_gene': 'AIMP1', 'score': 10.68}, {'connected_gene': 'GC04M106256', 'score': 0.37}, {'connected_gene': 'GC04M106235', 'score': 0.31}]
chr4	GH04I106260	106260426	106265693	0.81	[{'connected_gene': 'TBCK', 'score': 18.67}, {'connected_gene': 'AIMP1', 'score': 10.67}, {'connected_gene': 'GC04M106256', 'score': 0.34}, {'connected_gene': 'GC04M106235', 'score': 0.31}]
chr4	GH04I106301	106301088	106302968	0.46	[{'connected_gene': 'TBCK', 'score': 8.69}, {'connected_gene': 'AIMP1', 'score': 0.39}, {'connected_gene': 'GC04M106256', 'score': 0.37}]
chr4	GH04I106311	106311859	106313824	1.02	[{'connected_gene': 'TBCK', 'score': 8.32}, {'connected_gene': 'NPNT', 'score': 4.32}, {'connected_gene': 'AIMP1', 'score': 0.77}, {'connected_gene': 'GC04M106256', 'score': 0.31}]
chr4	GH04I106310	106310446	106311445	0.31	[{'connected_gene': 'TBCK', 'score': 8.28}, {'connected_gene': 'NPNT', 'score': 5.02}, {'connected_gene': 'INTS12', 'score': 4.37}, {'connected_gene': 'AIMP1', 'score': 0.77}, {'connected_gene': 'GC04M106256', 'score': 0.31}]
chr4	GH04I106286	106286441	106288685	1.15	[{'connected_gene': 'AIMP1', 'score': 10.85}, {'connected_gene': 'TBCK', 'score': 10.83}, {'connected_gene': 'GC04M106256', 'score': 0.77}]
chr4	GH04I106676	106676201	106677006	0.92	[{'connected_gene': 'AIMP1', 'score': 1.22}, {'connected_gene': 'GC04P106702', 'score': 0.31}, {'connected_gene': 'GC04M106541', 'score': 0.12}, {'connected_gene': 'LOC105377356', 'score': 0.1}]
chr4	GH04I105978	105978392	105980174	0.78	[{'connected_gene': 'AIMP1', 'score': 4.17}, {'connected_gene': 'LOC101929577', 'score': 0.26}, {'connected_gene': 'ENSG00000250740', 'score': 0.25}, {'connected_gene': 'NPNT', 'score': 0.18}]
chr4	GH04I105707	105707230	105711253	2.15	[{'connected_gene': 'GSTCD', 'score': 604.06}, {'connected_gene': 'INTS12', 'score': 568.23}, {'connected_gene': 'LOC101929577', 'score': 54.73}, {'connected_gene': 'TBCK', 'score': 44.36}, {'connected_gene': 'EEF1A1P9', 'score': 21.37}, {'connected_gene': 'AIMP1', 'score': 18.47}, {'connected_gene': 'LOC101929529', 'score': 11.76}, {'connected_gene': 'TET2', 'score': 9.93}, {'connected_gene': 'ARHGEF38', 'score': 0.1}]
chr4	GH04I105894	105894540	105898702	2.11	[{'connected_gene': 'INTS12', 'score': 566.88}, {'connected_gene': 'NPNT', 'score': 550.77}, {'connected_gene': 'AIMP1', 'score': 18.49}, {'connected_gene': 'ENSG00000250740', 'score': 15.06}]
chr4	GH04I105637	105637601	105637800	0.84	[{'connected_gene': 'LOC101929577', 'score': 43.36}, {'connected_gene': 'GSTCD', 'score': 42.29}, {'connected_gene': 'TBCK', 'score': 26.89}, {'connected_gene': 'LOC105377352', 'score': 10.81}, {'connected_gene': 'ARHGEF38', 'score': 10.81}, {'connected_gene': 'AIMP1', 'score': 9.88}, {'connected_gene': 'ENSG00000248778', 'score': 0.26}, {'connected_gene': 'ARHGEF38-IT1', 'score': 0.18}]
chr4	GH04I106326	106326646	106329616	0.43	[{'connected_gene': 'GC04P106329', 'score': 550.77}, {'connected_gene': 'TBCK', 'score': 8.29}, {'connected_gene': 'AIMP1', 'score': 0.39}]