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
ENST00000304921	[[3622794, 3622940], [3623181, 3623274], [3623406, 3623478], [3624076, 3624220], [3625299, 3625364], [3627699, 3627850], [3628394, 3628509]]	[[3623199, 3623274], [3623406, 3623478], [3624076, 3624220], [3625299, 3625364], [3627699, 3627850], [3628394, 3628472]]
ENST00000407445	[[3622911, 3622940], [3623181, 3623274], [3623406, 3623478], [3624076, 3624220], [3625299, 3625364], [3627699, 3628129]]	[[3623199, 3623274], [3623406, 3623478], [3624076, 3624220], [3625299, 3625364], [3627699, 3627907]]
ENST00000403564	[[3622914, 3623038], [3623181, 3623274], [3623406, 3623478], [3624076, 3624220], [3625299, 3625364], [3627699, 3627850], [3628394, 3628509]]	[[3623199, 3623274], [3623406, 3623478], [3624076, 3624220], [3625299, 3625364], [3627699, 3627850], [3628394, 3628472]]
ENST00000462576	[[3622914, 3623274], [3623406, 3623478], [3624076, 3624220], [3625299, 3625364], [3627699, 3627850], [3628394, 3628509]]	None
ENST00000491937	[[3622934, 3623274], [3623406, 3623478], [3624076, 3624220], [3625299, 3625364], [3627699, 3628065]]	None
ENST00000406376	[[3622947, 3623038], [3623190, 3623274], [3623406, 3623478], [3624076, 3624220], [3625299, 3625364], [3627699, 3627850], [3628394, 3628491]]	[[3623199, 3623274], [3623406, 3623478], [3624076, 3624220], [3625299, 3625364], [3627699, 3627850], [3628394, 3628472]]
ENST00000481006	[[3622947, 3623274], [3623406, 3628508]]	None
ENST00000479123	[[3623222, 3623274], [3623406, 3623478], [3624076, 3624463]]	None
ENST00000472966	[[3627408, 3627850], [3628394, 3628508]]	None
NM_001011	[[3622852, 3622940], [3623181, 3623274], [3623406, 3623478], [3624076, 3624220], [3625299, 3625364], [3627699, 3627850], [3628394, 3628509]]	[[3623199, 3623274], [3623406, 3623478], [3624076, 3624220], [3625299, 3625364], [3627699, 3627850], [3628394, 3628472]]

Promoter

Chrom	Start	End	Description
chr2	3622817	3622828	CAGE_peak_4_at_RPS7_5end
chr2	3622829	3622838	CAGE_peak_5_at_RPS7_5end
chr2	3622840	3622882	CAGE_peak_1_at_RPS7_5end
chr2	3622893	3622925	CAGE_peak_2_at_RPS7_5end
chr2	3622932	3622954	CAGE_peak_3_at_RPS7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I003620	3620756	3621603	0.99	[{'connected_gene': 'COLEC11', 'score': 22.59}, {'connected_gene': 'RPS7', 'score': 10.92}, {'connected_gene': 'ALLC', 'score': 10.75}, {'connected_gene': 'PIR38137', 'score': 0.77}, {'connected_gene': 'TMSB4XP2', 'score': 0.77}]
chr2	GH02I003611	3611228	3611516	0.2	[{'connected_gene': 'COLEC11', 'score': 14.04}, {'connected_gene': 'RPS7', 'score': 11.38}, {'connected_gene': 'ENSG00000235078', 'score': 10.35}, {'connected_gene': 'ADI1', 'score': 10.35}, {'connected_gene': 'GC02P003608', 'score': 0.77}, {'connected_gene': 'TMSB4XP2', 'score': 0.44}]
chr2	GH02I003602	3602847	3606377	1.83	[{'connected_gene': 'COLEC11', 'score': 581.9}, {'connected_gene': 'ENSG00000237370', 'score': 550.77}, {'connected_gene': 'RPS7', 'score': 25.91}, {'connected_gene': 'RNASEH1', 'score': 10.25}, {'connected_gene': 'GC02P003608', 'score': 0.77}]
chr2	GH02I003594	3594480	3596240	1.54	[{'connected_gene': 'COLEC11', 'score': 557.3}, {'connected_gene': 'RPS7', 'score': 5.94}, {'connected_gene': 'RNASEH1-AS1', 'score': 5.05}, {'connected_gene': 'ENSG00000237370', 'score': 0.44}]
chr2	GH02I003617	3617401	3617800	0.5	[{'connected_gene': 'TMSB4XP2', 'score': 550.77}, {'connected_gene': 'COLEC11', 'score': 14.51}, {'connected_gene': 'RPS7', 'score': 10.89}, {'connected_gene': 'ENSG00000235078', 'score': 10.01}, {'connected_gene': 'ADI1', 'score': 10.01}, {'connected_gene': 'GC02P003608', 'score': 0.44}]
chr2	GH02I003574	3574549	3578154	2.36	[{'connected_gene': 'RPS7', 'score': 611.05}, {'connected_gene': 'TRAPPC12', 'score': 53.35}, {'connected_gene': 'RNASEH1', 'score': 29.22}, {'connected_gene': 'COLEC11', 'score': 28.6}, {'connected_gene': 'RNASEH1-AS1', 'score': 11.9}]
chr2	GH02I003302	3302974	3304239	1.15	[{'connected_gene': 'RPS7', 'score': 9.69}, {'connected_gene': 'EIPR1-IT1', 'score': 0.77}, {'connected_gene': 'GC02M003336', 'score': 0.26}, {'connected_gene': 'EIPR1', 'score': 0.19}]
chr2	GH02I003461	3461402	3462959	1.14	[{'connected_gene': 'ADI1', 'score': 10.89}, {'connected_gene': 'ENSG00000235078', 'score': 10.89}, {'connected_gene': 'COLEC11', 'score': 10.47}, {'connected_gene': 'ENSG00000237370', 'score': 10.47}, {'connected_gene': 'RPS7', 'score': 10.15}, {'connected_gene': 'TRAPPC12-AS1', 'score': 5.56}, {'connected_gene': 'TRAPPC12', 'score': 5.21}, {'connected_gene': 'GC02P003451', 'score': 0.39}, {'connected_gene': 'PIR36101', 'score': 0.39}]
chr2	GH02I003453	3453887	3454908	0.31	[{'connected_gene': 'ADI1', 'score': 16.43}, {'connected_gene': 'ENSG00000235078', 'score': 10.92}, {'connected_gene': 'RPS7', 'score': 10.43}, {'connected_gene': 'TRAPPC12', 'score': 9.97}, {'connected_gene': 'GC02P003453', 'score': 0.77}, {'connected_gene': 'PIR36101', 'score': 0.77}, {'connected_gene': 'GC02P003451', 'score': 0.77}, {'connected_gene': 'TRAPPC12-AS1', 'score': 0.31}]
chr2	GH02I003505	3505370	3506579	0.43	[{'connected_gene': 'ADI1', 'score': 16.46}, {'connected_gene': 'ENSG00000255767', 'score': 10.97}, {'connected_gene': 'RPS7', 'score': 10.74}, {'connected_gene': 'GC02P003503', 'score': 0.77}, {'connected_gene': 'ENSG00000235078', 'score': 0.39}]
chr2	GH02I003386	3386274	3387145	0.43	[{'connected_gene': 'TRAPPC12', 'score': 11.94}, {'connected_gene': 'RPS7', 'score': 10.71}, {'connected_gene': 'PIR54632', 'score': 0.28}]
chr2	GH02I003399	3399340	3400961	0.31	[{'connected_gene': 'TRAPPC12', 'score': 12.35}, {'connected_gene': 'ENSG00000235078', 'score': 10.51}, {'connected_gene': 'ADI1', 'score': 10.51}, {'connected_gene': 'RPS7', 'score': 10.19}, {'connected_gene': 'PIR54632', 'score': 0.34}]
chr2	GH02I003475	3475222	3477479	0.74	[{'connected_gene': 'TRAPPC12-AS1', 'score': 56.49}, {'connected_gene': 'ADI1', 'score': 11.33}, {'connected_gene': 'ENSG00000235078', 'score': 11.33}, {'connected_gene': 'ENSG00000255767', 'score': 11.11}, {'connected_gene': 'RPS7', 'score': 10.47}, {'connected_gene': 'GC02P003451', 'score': 0.34}, {'connected_gene': 'PIR36101', 'score': 0.34}, {'connected_gene': 'TRAPPC12', 'score': 0.15}]
chr2	GH02I003480	3480362	3481334	0.76	[{'connected_gene': 'TRAPPC12-AS1', 'score': 606.24}, {'connected_gene': 'ADI1', 'score': 11.35}, {'connected_gene': 'ENSG00000235078', 'score': 11.35}, {'connected_gene': 'ENSG00000255767', 'score': 11.12}, {'connected_gene': 'RPS7', 'score': 10.48}, {'connected_gene': 'GC02P003451', 'score': 0.31}, {'connected_gene': 'PIR36101', 'score': 0.31}, {'connected_gene': 'TRAPPC12', 'score': 0.15}]
chr2	GH02I003481	3480066	3480315	0.34	[{'connected_gene': 'TRAPPC12-AS1', 'score': 20.2}, {'connected_gene': 'ADI1', 'score': 11.35}, {'connected_gene': 'ENSG00000235078', 'score': 11.35}, {'connected_gene': 'ENSG00000255767', 'score': 11.12}, {'connected_gene': 'RPS7', 'score': 10.47}, {'connected_gene': 'GC02P003451', 'score': 0.31}, {'connected_gene': 'PIR36101', 'score': 0.31}, {'connected_gene': 'TRAPPC12', 'score': 0.15}]
chr2	GH02I003583	3583847	3586749	1.15	[{'connected_gene': 'RNASEH1-AS1', 'score': 11.48}, {'connected_gene': 'ENSG00000255767', 'score': 10.72}, {'connected_gene': 'COLEC11', 'score': 8.88}, {'connected_gene': 'RPS7', 'score': 8.11}]
chr2	GH02I003562	3562833	3565260	0.93	[{'connected_gene': 'RNASEH1-AS1', 'score': 58.8}, {'connected_gene': 'TRAPPC12', 'score': 5.51}, {'connected_gene': 'RPS7', 'score': 5.34}, {'connected_gene': 'GC02P003569', 'score': 0.44}, {'connected_gene': 'RNASEH1', 'score': 0.44}]
chr2	GH02I003557	3557037	3560163	2.08	[{'connected_gene': 'RNASEH1-AS1', 'score': 612.36}, {'connected_gene': 'RNASEH1', 'score': 550.77}, {'connected_gene': 'COLEC11', 'score': 10.16}, {'connected_gene': 'RPS7', 'score': 5.17}]
chr2	GH02I003624	3624172	3625045	0.54	[{'connected_gene': 'PIR38137', 'score': 550.77}, {'connected_gene': 'COLEC11', 'score': 26.05}, {'connected_gene': 'ENSG00000237370', 'score': 11.79}, {'connected_gene': 'RPS7', 'score': 11.17}, {'connected_gene': 'ALLC', 'score': 11.07}, {'connected_gene': 'ADI1', 'score': 10.55}, {'connected_gene': 'ENSG00000235078', 'score': 10.55}, {'connected_gene': 'ENSG00000255767', 'score': 10.09}, {'connected_gene': 'TMSB4XP2', 'score': 0.44}]
chr2	GH02I003587	3587053	3588711	0.92	[{'connected_gene': 'ENSG00000255767', 'score': 10.72}, {'connected_gene': 'COLEC11', 'score': 9.04}, {'connected_gene': 'RNASEH1-AS1', 'score': 8.77}, {'connected_gene': 'RPS7', 'score': 6.95}]
chr2	GH02I003609	3609431	3609540	0.38	[{'connected_gene': 'GC02P003608', 'score': 550.77}, {'connected_gene': 'RPS7', 'score': 11.4}, {'connected_gene': 'ADI1', 'score': 10.36}, {'connected_gene': 'ENSG00000235078', 'score': 10.35}, {'connected_gene': 'TMSB4XP2', 'score': 0.44}, {'connected_gene': 'COLEC11', 'score': 0.39}]
chr2	GH02I003452	3452707	3453838	0.2	[{'connected_gene': 'PIR36101', 'score': 550.77}, {'connected_gene': 'GC02P003451', 'score': 550.77}, {'connected_gene': 'ENSG00000235078', 'score': 10.92}, {'connected_gene': 'ADI1', 'score': 10.92}, {'connected_gene': 'RPS7', 'score': 10.43}, {'connected_gene': 'TRAPPC12', 'score': 5.2}, {'connected_gene': 'GC02P003453', 'score': 0.77}, {'connected_gene': 'TRAPPC12-AS1', 'score': 0.31}]
chr2	GH02I003534	3534655	3537755	1.72	[{'connected_gene': 'ENSG00000242282', 'score': 560.63}, {'connected_gene': 'RNASEH1-AS1', 'score': 23.78}, {'connected_gene': 'COLEC11', 'score': 21.41}, {'connected_gene': 'RNASEH1', 'score': 12.59}, {'connected_gene': 'RPS7', 'score': 12.52}, {'connected_gene': 'ENSG00000255767', 'score': 0.39}, {'connected_gene': 'ADI1', 'score': 0.37}]