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
ENST00000262713	[[23440382, 23442777], [23443255, 23443324], [23444047, 23444099], [23444182, 23444313], [23445664, 23445727], [23445853, 23445921], [23447552, 23447654], [23450469, 23451851]]	[[23442651, 23442777], [23443255, 23443324], [23444047, 23444099], [23444182, 23444313], [23445664, 23445727], [23445853, 23445921], [23447552, 23447654], [23450469, 23451475]]
ENST00000397388	[[23441023, 23442777], [23443255, 23443324], [23444047, 23444099], [23444182, 23444313], [23445664, 23445727], [23445853, 23446432]]	[[23442651, 23442777], [23443255, 23443324], [23444047, 23444099], [23444182, 23444301]]
ENST00000361265	[[23441027, 23441389], [23442133, 23442777], [23443255, 23443324], [23444047, 23444099], [23444182, 23444313], [23445664, 23445727], [23445853, 23445921], [23447552, 23447654], [23450469, 23451547]]	[[23442651, 23442777], [23443255, 23443324], [23444047, 23444099], [23444182, 23444313], [23445664, 23445727], [23445853, 23445921], [23447552, 23447654], [23450469, 23451475]]
ENST00000553592	[[23443255, 23443324], [23444047, 23444099], [23444182, 23444313], [23445664, 23445727], [23445853, 23445921], [23446017, 23446052]]	[[23443255, 23443324], [23444047, 23444099], [23444182, 23444301]]
ENST00000556731	[[23443255, 23443324], [23444047, 23444099], [23444182, 23444313], [23445664, 23445727], [23445853, 23445921], [23446678, 23446946]]	[[23443255, 23443324], [23444047, 23444099], [23444182, 23444301]]
ENST00000553911	[[23443301, 23443324], [23444047, 23444099], [23444182, 23444313], [23444915, 23445053], [23445664, 23445727], [23445853, 23446013]]	[[23443301, 23443324], [23444047, 23444099], [23444182, 23444301]]
ENST00000555479	[[23443863, 23444099], [23444182, 23444504]]	None
ENST00000553736	[[23447820, 23448245], [23450469, 23450795]]	[[23448141, 23448245], [23450469, 23450795]]
NM_198086	[[23440382, 23442777], [23443255, 23443324], [23444047, 23444099], [23444182, 23444313], [23445664, 23445727], [23445853, 23446432]]	[[23442651, 23442777], [23443255, 23443324], [23444047, 23444099], [23444182, 23444301]]
NM_032876	[[23440382, 23442777], [23443255, 23443324], [23444047, 23444099], [23444182, 23444313], [23445664, 23445727], [23445853, 23445921], [23447552, 23447654], [23450469, 23451851]]	[[23442651, 23442777], [23443255, 23443324], [23444047, 23444099], [23444182, 23444313], [23445664, 23445727], [23445853, 23445921], [23447552, 23447654], [23450469, 23451475]]
NM_001289097	[[23447820, 23448245], [23450469, 23451851]]	[[23448141, 23448245], [23450469, 23451475]]

Promoter

Chrom	Start	End	Description
chr14	23445892	23445897	CAGE_peak_17_at_AJUBA_5end
chr14	23445927	23445936	CAGE_peak_15_at_AJUBA_5end
chr14	23445970	23445991	CAGE_peak_6_at_AJUBA_5end
chr14	23446003	23446019	CAGE_peak_10_at_AJUBA_5end
chr14	23446021	23446070	CAGE_peak_7_at_AJUBA_5end
chr14	23446900	23446922	CAGE_peak_13_at_AJUBA_5end
chr14	23451697	23451713	CAGE_peak_4_at_AJUBA_5end
chr14	23451725	23451742	CAGE_peak_1_at_AJUBA_5end
chr14	23451753	23451767	CAGE_peak_2_at_AJUBA_5end
chr14	23451797	23451814	CAGE_peak_3_at_AJUBA_5end
chr14	23451816	23451828	CAGE_peak_5_at_AJUBA_5end
chr14	23451845	23451856	CAGE_peak_8_at_AJUBA_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I022976	22976101	22983710	2.7	[{'connected_gene': 'AJUBA', 'score': 559.71}, {'connected_gene': 'ACIN1', 'score': 200.69}, {'connected_gene': 'NGDN', 'score': 160.15}, {'connected_gene': 'PRMT5', 'score': 113.21}, {'connected_gene': 'C14orf93', 'score': 102.87}, {'connected_gene': 'HAUS4', 'score': 99.95}, {'connected_gene': 'RBM23', 'score': 96.86}, {'connected_gene': 'LOC102724814', 'score': 66.99}, {'connected_gene': 'PABPN1', 'score': 57.08}, {'connected_gene': 'MMP14', 'score': 56.15}, {'connected_gene': 'SLC22A17', 'score': 39.22}, {'connected_gene': 'C14orf119', 'score': 31.52}, {'connected_gene': 'CDH24', 'score': 31.24}, {'connected_gene': 'HOMEZ', 'score': 26.97}, {'connected_gene': 'ABHD4', 'score': 19.32}, {'connected_gene': 'PSMB5', 'score': 15.09}, {'connected_gene': 'JPH4', 'score': 12.72}, {'connected_gene': 'ENSG00000258458', 'score': 11.41}, {'connected_gene': 'PSMB11', 'score': 11.06}, {'connected_gene': 'ZFHX2', 'score': 10.73}, {'connected_gene': 'THTPA', 'score': 10.69}, {'connected_gene': 'ENSG00000258457', 'score': 10.44}, {'connected_gene': 'PRMT5-AS1', 'score': 10.07}, {'connected_gene': 'BCL2L2-PABPN1', 'score': 10.04}, {'connected_gene': 'BCL2L2', 'score': 10.02}, {'connected_gene': 'MRPL52', 'score': 4.28}, {'connected_gene': 'ENSG00000259132', 'score': 0.77}]
chr14	GH14I022973	22973652	22975411	1.08	[{'connected_gene': 'HAUS4', 'score': 31.67}, {'connected_gene': 'AJUBA', 'score': 0.44}, {'connected_gene': 'ENSG00000259132', 'score': 0.44}]
chr14	GH14I022955	22955300	22957909	2.07	[{'connected_gene': 'HAUS4', 'score': 626.89}, {'connected_gene': 'MIR4707', 'score': 550.77}, {'connected_gene': 'ACIN1', 'score': 47.22}, {'connected_gene': 'C14orf93', 'score': 33.71}, {'connected_gene': 'C14orf119', 'score': 32.65}, {'connected_gene': 'RBM23', 'score': 27.34}, {'connected_gene': 'LOC102724814', 'score': 20.7}, {'connected_gene': 'PRMT5', 'score': 13.59}, {'connected_gene': 'AJUBA', 'score': 11.53}, {'connected_gene': 'PSMB5', 'score': 11.14}, {'connected_gene': 'PSMB11', 'score': 11.12}, {'connected_gene': 'CDH24', 'score': 10.88}, {'connected_gene': 'TRR-ACG1-3', 'score': 0.31}, {'connected_gene': 'LOC101926933', 'score': 0.31}, {'connected_gene': 'ENSG00000259132', 'score': 0.31}]
chr14	GH14I022896	22896998	22899393	1.09	[{'connected_gene': 'NGDN', 'score': 14.43}, {'connected_gene': 'HAUS4', 'score': 13.55}, {'connected_gene': 'LRP10', 'score': 12.78}, {'connected_gene': 'ENSG00000199716', 'score': 12.77}, {'connected_gene': 'MMP14', 'score': 11.41}, {'connected_gene': 'PRMT5', 'score': 11.34}, {'connected_gene': 'OXA1L', 'score': 10.92}, {'connected_gene': 'AJUBA', 'score': 10.29}, {'connected_gene': 'PSMB5', 'score': 10.04}, {'connected_gene': 'PSMB11', 'score': 10.03}, {'connected_gene': 'C14orf119', 'score': 9.41}, {'connected_gene': 'REM2', 'score': 0.37}, {'connected_gene': 'RBM23', 'score': 0.34}, {'connected_gene': 'PRMT5-AS1', 'score': 0.34}]
chr14	GH14I023065	23065463	23067064	0.57	[{'connected_gene': 'NGDN', 'score': 12.86}, {'connected_gene': 'EFS', 'score': 12.4}, {'connected_gene': 'PSMB11', 'score': 12.3}, {'connected_gene': 'PSMB5', 'score': 12.26}, {'connected_gene': 'CDH24', 'score': 11.45}, {'connected_gene': 'ACIN1', 'score': 11.21}, {'connected_gene': 'C14orf93', 'score': 10.96}, {'connected_gene': 'C14orf119', 'score': 10.78}, {'connected_gene': 'AJUBA', 'score': 10.67}, {'connected_gene': 'HAUS4', 'score': 10.54}, {'connected_gene': 'RNF212B', 'score': 10.03}, {'connected_gene': 'SLC7A8', 'score': 10.03}]
chr14	GH14I023067	23067520	23073404	2.47	[{'connected_gene': 'ACIN1', 'score': 601.81}, {'connected_gene': 'C14orf93', 'score': 35.14}, {'connected_gene': 'NGDN', 'score': 26.88}, {'connected_gene': 'LOC102724814', 'score': 25.79}, {'connected_gene': 'RBM23', 'score': 25.66}, {'connected_gene': 'HAUS4', 'score': 22.09}, {'connected_gene': 'PRMT5', 'score': 18.52}, {'connected_gene': 'PSMB11', 'score': 12.28}, {'connected_gene': 'PSMB5', 'score': 12.24}, {'connected_gene': 'C14orf119', 'score': 12.02}, {'connected_gene': 'CEBPE', 'score': 10.9}, {'connected_gene': 'AJUBA', 'score': 10.77}, {'connected_gene': 'RNF212B', 'score': 10.31}, {'connected_gene': 'SLC7A8', 'score': 10.31}, {'connected_gene': 'RNU6-1138P', 'score': 9.84}, {'connected_gene': 'CDH24', 'score': 0.39}]
chr14	GH14I022908	22908601	22909000	0.46	[{'connected_gene': 'REM2', 'score': 11.82}, {'connected_gene': 'LRP10', 'score': 11.78}, {'connected_gene': 'ENSG00000199716', 'score': 11.77}, {'connected_gene': 'MMP14', 'score': 11.38}, {'connected_gene': 'PRMT5', 'score': 11.36}, {'connected_gene': 'AJUBA', 'score': 10.18}, {'connected_gene': 'C14orf93', 'score': 10.12}, {'connected_gene': 'CDH24', 'score': 10.09}, {'connected_gene': 'RBM23', 'score': 0.39}, {'connected_gene': 'PRMT5-AS1', 'score': 0.39}]
chr14	GH14I023060	23060637	23064904	1.08	[{'connected_gene': 'PSMB11', 'score': 12.3}, {'connected_gene': 'PSMB5', 'score': 12.28}, {'connected_gene': 'ACIN1', 'score': 11.19}, {'connected_gene': 'C14orf93', 'score': 10.97}, {'connected_gene': 'C14orf119', 'score': 10.76}, {'connected_gene': 'AJUBA', 'score': 10.67}, {'connected_gene': 'HAUS4', 'score': 10.54}, {'connected_gene': 'RNF212B', 'score': 10.03}, {'connected_gene': 'SLC7A8', 'score': 10.03}, {'connected_gene': 'CDH24', 'score': 9.3}]
chr14	GH14I022927	22927991	22931223	2.34	[{'connected_gene': 'PRMT5', 'score': 577.08}, {'connected_gene': 'LOC101926933', 'score': 550.77}, {'connected_gene': 'TRR-ACG1-3', 'score': 550.77}, {'connected_gene': 'HAUS4', 'score': 62.99}, {'connected_gene': 'NGDN', 'score': 61.55}, {'connected_gene': 'ACIN1', 'score': 44.74}, {'connected_gene': 'RBM23', 'score': 24.96}, {'connected_gene': 'LOC102724814', 'score': 24.7}, {'connected_gene': 'PABPN1', 'score': 24.44}, {'connected_gene': 'SLC7A8', 'score': 22.47}, {'connected_gene': 'SLC22A17', 'score': 21.63}, {'connected_gene': 'PPP1R3E', 'score': 20.32}, {'connected_gene': 'BCL2L2', 'score': 18.83}, {'connected_gene': 'C14orf93', 'score': 16.45}, {'connected_gene': 'ENSG00000258458', 'score': 14.83}, {'connected_gene': 'AJUBA', 'score': 12.9}, {'connected_gene': 'JPH4', 'score': 12.72}, {'connected_gene': 'MMP14', 'score': 11.49}, {'connected_gene': 'H3F3AP2', 'score': 10.75}, {'connected_gene': 'CDH24', 'score': 10.5}, {'connected_gene': 'PRMT5-AS1', 'score': 10.25}, {'connected_gene': 'EFS', 'score': 10.1}, {'connected_gene': 'BCL2L2-PABPN1', 'score': 10.03}, {'connected_gene': 'ZFHX2-AS1', 'score': 10.0}, {'connected_gene': 'ENSG00000258457', 'score': 9.9}]