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
ENST00000310226	[[72873427, 72874606], [72875533, 72875713], [72877197, 72877385], [72878659, 72878840], [72888649, 72888816], [72889503, 72889708]]	[[72874459, 72874606], [72875533, 72875713], [72877197, 72877385], [72878659, 72878840], [72888649, 72888816], [72889503, 72889693]]
ENST00000413142	[[72874046, 72874606], [72875533, 72875713], [72878659, 72879014]]	None
ENST00000579663	[[72875171, 72875713], [72877197, 72877385], [72878659, 72878834]]	[[72875416, 72875713], [72877197, 72877385], [72878659, 72878834]]
NM_178128	[[72873430, 72874606], [72875533, 72875713], [72877197, 72877385], [72878659, 72878840], [72888649, 72888816], [72889503, 72889909]]	[[72874459, 72874606], [72875533, 72875713], [72877197, 72877385], [72878659, 72878840], [72888649, 72888816], [72889503, 72889693]]

Promoter

Chrom	Start	End	Description
chr17	72889697	72889704	CAGE_peak_3_at_FADS6_5end
chr17	72889725	72889766	CAGE_peak_1_at_FADS6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I075010	75010330	75014074	2.58	[{'connected_gene': 'MRPL58', 'score': 560.74}, {'connected_gene': 'UNK', 'score': 28.73}, {'connected_gene': 'GGA3', 'score': 26.93}, {'connected_gene': 'HID1', 'score': 22.57}, {'connected_gene': 'NUP85', 'score': 21.27}, {'connected_gene': 'CDK3', 'score': 20.51}, {'connected_gene': 'NT5C', 'score': 19.52}, {'connected_gene': 'ENSG00000266980', 'score': 16.01}, {'connected_gene': 'KCTD2', 'score': 15.39}, {'connected_gene': 'CDR2L', 'score': 14.97}, {'connected_gene': 'FADS6', 'score': 12.25}, {'connected_gene': 'RECQL5', 'score': 11.92}, {'connected_gene': 'ENSG00000267342', 'score': 11.67}, {'connected_gene': 'SAP30BP', 'score': 11.55}, {'connected_gene': 'ATP5PD', 'score': 11.37}, {'connected_gene': 'TRIM65', 'score': 11.27}, {'connected_gene': 'NAT9', 'score': 9.78}, {'connected_gene': 'RAB37', 'score': 7.03}, {'connected_gene': 'GRIN2C', 'score': 6.22}, {'connected_gene': 'ARMC7', 'score': 4.93}, {'connected_gene': 'SUMO2', 'score': 3.59}, {'connected_gene': 'GC17M075008', 'score': 0.77}]
chr17	GH17I074784	74784479	74784842	0.23	[{'connected_gene': 'RAB37', 'score': 18.5}, {'connected_gene': 'SLC9A3R1', 'score': 12.4}, {'connected_gene': 'GRIN2C', 'score': 11.15}, {'connected_gene': 'FADS6', 'score': 11.03}, {'connected_gene': 'CD300E', 'score': 10.02}, {'connected_gene': 'GPR142', 'score': 6.39}, {'connected_gene': 'TMEM104', 'score': 0.44}, {'connected_gene': 'PIR51683', 'score': 0.34}]
chr17	GH17I074394	74394218	74396117	1.11	[{'connected_gene': 'RAB37', 'score': 20.44}, {'connected_gene': 'GPR142', 'score': 12.89}, {'connected_gene': 'GPRC5C', 'score': 12.02}, {'connected_gene': 'CD300A', 'score': 11.22}, {'connected_gene': 'CD300E', 'score': 10.24}, {'connected_gene': 'CD300LD', 'score': 10.22}, {'connected_gene': 'GRIN2C', 'score': 9.28}, {'connected_gene': 'FADS6', 'score': 2.01}, {'connected_gene': 'GC17M074418', 'score': 0.34}, {'connected_gene': 'RNA5SP448', 'score': 0.34}]
chr17	GH17I074785	74785380	74787286	0.92	[{'connected_gene': 'RAB37', 'score': 18.75}, {'connected_gene': 'CD300E', 'score': 14.96}, {'connected_gene': 'SLC9A3R1', 'score': 13.67}, {'connected_gene': 'GRIN2C', 'score': 11.15}, {'connected_gene': 'FADS6', 'score': 11.03}, {'connected_gene': 'CD300LB', 'score': 9.08}, {'connected_gene': 'TMEM104', 'score': 9.02}, {'connected_gene': 'CD300LF', 'score': 7.08}, {'connected_gene': 'CD300C', 'score': 6.87}, {'connected_gene': 'CD300A', 'score': 3.69}, {'connected_gene': 'SLC16A5', 'score': 2.22}, {'connected_gene': 'GGA3', 'score': 1.93}, {'connected_gene': 'PIR51683', 'score': 0.37}]
chr17	GH17I074790	74790801	74791926	1.12	[{'connected_gene': 'RAB37', 'score': 19.61}, {'connected_gene': 'GRIN2C', 'score': 12.62}, {'connected_gene': 'SLC9A3R1', 'score': 11.72}, {'connected_gene': 'FDXR', 'score': 11.3}, {'connected_gene': 'FADS6', 'score': 11.28}, {'connected_gene': 'OTOP3', 'score': 11.06}, {'connected_gene': 'CD300LF', 'score': 10.41}, {'connected_gene': 'TMEM104', 'score': 6.57}, {'connected_gene': 'PIR51683', 'score': 0.39}]
chr17	GH17I074807	74807989	74808242	0.64	[{'connected_gene': 'RAB37', 'score': 33.2}, {'connected_gene': 'GRIN2C', 'score': 25.58}, {'connected_gene': 'NAT9', 'score': 11.27}, {'connected_gene': 'TMEM104', 'score': 11.27}, {'connected_gene': 'CD300E', 'score': 9.96}, {'connected_gene': 'KCTD2', 'score': 3.39}, {'connected_gene': 'FADS6', 'score': 2.87}, {'connected_gene': 'KIF19', 'score': 1.77}, {'connected_gene': 'PIR51683', 'score': 0.77}, {'connected_gene': 'PIR37943', 'score': 0.29}]
chr17	GH17I074833	74833982	74834131	0.74	[{'connected_gene': 'GRIN2C', 'score': 12.97}, {'connected_gene': 'FADS6', 'score': 11.21}, {'connected_gene': 'CD300E', 'score': 9.86}, {'connected_gene': 'PIR37943', 'score': 0.44}, {'connected_gene': 'PIR51683', 'score': 0.31}, {'connected_gene': 'TMEM104', 'score': 0.22}]
chr17	GH17I074814	74813545	74814458	0.31	[{'connected_gene': 'GRIN2C', 'score': 28.05}, {'connected_gene': 'FADS6', 'score': 10.6}, {'connected_gene': 'CD300E', 'score': 9.6}, {'connected_gene': 'PIR51683', 'score': 0.44}, {'connected_gene': 'PIR37943', 'score': 0.31}, {'connected_gene': 'TMEM104', 'score': 0.28}]
chr17	GH17I074834	74834162	74834332	0.94	[{'connected_gene': 'GRIN2C', 'score': 29.06}, {'connected_gene': 'FADS6', 'score': 11.21}, {'connected_gene': 'CD300E', 'score': 9.86}, {'connected_gene': 'PIR37943', 'score': 0.44}, {'connected_gene': 'PIR51683', 'score': 0.31}, {'connected_gene': 'TMEM104', 'score': 0.22}]
chr17	GH17I074813	74813001	74813413	0.78	[{'connected_gene': 'GRIN2C', 'score': 13.96}, {'connected_gene': 'FADS6', 'score': 13.55}, {'connected_gene': 'CD300E', 'score': 9.61}, {'connected_gene': 'KIF19', 'score': 4.71}, {'connected_gene': 'KCTD2', 'score': 2.64}, {'connected_gene': 'RAB37', 'score': 1.36}, {'connected_gene': 'PIR51683', 'score': 0.44}, {'connected_gene': 'PIR37943', 'score': 0.31}, {'connected_gene': 'TMEM104', 'score': 0.28}]
chr17	GH17I074974	74974377	74975652	0.63	[{'connected_gene': 'HID1', 'score': 550.77}, {'connected_gene': 'OTOP3', 'score': 11.62}, {'connected_gene': 'MRPL58', 'score': 11.55}, {'connected_gene': 'RNU6-362P', 'score': 11.18}, {'connected_gene': 'FADS6', 'score': 11.12}, {'connected_gene': 'FDXR', 'score': 11.09}, {'connected_gene': 'KCTD2', 'score': 10.48}, {'connected_gene': 'ATP5PD', 'score': 10.45}, {'connected_gene': 'HID1-AS1', 'score': 0.77}, {'connected_gene': 'GC17P074982', 'score': 0.44}]
chr17	GH17I074989	74989929	74993991	1.18	[{'connected_gene': 'HID1', 'score': 14.42}, {'connected_gene': 'RNU6-362P', 'score': 11.19}, {'connected_gene': 'OTOP3', 'score': 11.05}, {'connected_gene': 'KCTD2', 'score': 10.78}, {'connected_gene': 'ATP5PD', 'score': 10.74}, {'connected_gene': 'FADS6', 'score': 10.58}, {'connected_gene': 'MRPL58', 'score': 5.54}, {'connected_gene': 'CDR2L', 'score': 0.77}, {'connected_gene': 'GC17M074998', 'score': 0.44}]
chr17	GH17I074952	74952285	74954191	0.74	[{'connected_gene': 'FADS6', 'score': 11.4}, {'connected_gene': 'CDR2L', 'score': 10.95}, {'connected_gene': 'FDXR', 'score': 10.86}, {'connected_gene': 'KCTD2', 'score': 10.46}, {'connected_gene': 'ATP5PD', 'score': 10.44}, {'connected_gene': 'GRIN2C', 'score': 10.36}, {'connected_gene': 'GC17M074966', 'score': 0.37}, {'connected_gene': 'OTOP3', 'score': 0.37}, {'connected_gene': 'HID1', 'score': 0.37}]
chr17	GH17I074883	74883251	74883400	0.31	[{'connected_gene': 'FADS6', 'score': 0.39}, {'connected_gene': 'FDXR', 'score': 0.39}]
chr17	GH17I074893	74893623	74893682	0.84	[{'connected_gene': 'FADS6', 'score': 550.77}, {'connected_gene': 'GC17M074889', 'score': 0.44}, {'connected_gene': 'FDXR', 'score': 0.34}]
chr17	GH17I074732	74732602	74733672	0.96	[{'connected_gene': 'NAT9', 'score': 33.69}, {'connected_gene': 'NUP85', 'score': 21.54}, {'connected_gene': 'NT5C', 'score': 19.44}, {'connected_gene': 'GGA3', 'score': 18.11}, {'connected_gene': 'SAP30BP', 'score': 11.54}, {'connected_gene': 'RN7SL573P', 'score': 11.34}, {'connected_gene': 'RAB37', 'score': 7.04}, {'connected_gene': 'GRIN2C', 'score': 5.74}, {'connected_gene': 'KCTD2', 'score': 1.93}, {'connected_gene': 'KIF19', 'score': 1.38}, {'connected_gene': 'FADS6', 'score': 1.34}, {'connected_gene': 'SLC9A3R1', 'score': 0.37}, {'connected_gene': 'CD300LF', 'score': 0.34}]
chr17	GH17I074949	74949468	74951379	0.6	[{'connected_gene': 'NAT9', 'score': 12.46}, {'connected_gene': 'FADS6', 'score': 11.4}, {'connected_gene': 'HID1', 'score': 11.08}, {'connected_gene': 'CDR2L', 'score': 10.93}, {'connected_gene': 'FDXR', 'score': 10.87}, {'connected_gene': 'KCTD2', 'score': 10.46}, {'connected_gene': 'ATP5PD', 'score': 10.43}, {'connected_gene': 'GRIN2C', 'score': 10.37}, {'connected_gene': 'ENSG00000267342', 'score': 9.97}, {'connected_gene': 'TTYH2', 'score': 5.11}, {'connected_gene': 'OTOP3', 'score': 0.39}, {'connected_gene': 'GC17M074966', 'score': 0.37}]
chr17	GH17I074871	74871527	74878746	2.33	[{'connected_gene': 'FDXR', 'score': 569.4}, {'connected_gene': 'NT5C', 'score': 28.38}, {'connected_gene': 'UNK', 'score': 25.51}, {'connected_gene': 'NUP85', 'score': 24.92}, {'connected_gene': 'GGA3', 'score': 18.06}, {'connected_gene': 'ENSG00000266980', 'score': 14.68}, {'connected_gene': 'GRIN2C', 'score': 12.72}, {'connected_gene': 'LOC101928343', 'score': 11.4}, {'connected_gene': 'SLC16A5', 'score': 10.16}, {'connected_gene': 'FADS6', 'score': 0.37}]
chr17	GH17I074688	74688282	74691400	1.18	[{'connected_gene': 'CD300LF', 'score': 30.93}, {'connected_gene': 'CD300E', 'score': 17.04}, {'connected_gene': 'TMEM104', 'score': 14.48}, {'connected_gene': 'CD300LD', 'score': 11.61}, {'connected_gene': 'CD300C', 'score': 10.91}, {'connected_gene': 'CD300LB', 'score': 10.9}, {'connected_gene': 'FADS6', 'score': 10.66}, {'connected_gene': 'NAT9', 'score': 10.61}, {'connected_gene': 'GRIN2C', 'score': 10.26}, {'connected_gene': 'GGA3', 'score': 9.82}, {'connected_gene': 'CD300A', 'score': 7.62}, {'connected_gene': 'TTYH2', 'score': 2.39}, {'connected_gene': 'SLC16A5', 'score': 2.22}, {'connected_gene': 'LOC105371894', 'score': 0.39}, {'connected_gene': 'RAB37', 'score': 0.37}]
chr17	GH17I074981	74981234	74983850	1.81	[{'connected_gene': 'GC17P074982', 'score': 550.77}, {'connected_gene': 'RECQL5', 'score': 14.54}, {'connected_gene': 'UNK', 'score': 10.47}, {'connected_gene': 'TEN1', 'score': 9.97}, {'connected_gene': 'KCTD2', 'score': 5.49}, {'connected_gene': 'RAB37', 'score': 4.95}, {'connected_gene': 'TSEN54', 'score': 4.48}, {'connected_gene': 'GRIN2C', 'score': 4.46}, {'connected_gene': 'FADS6', 'score': 3.5}, {'connected_gene': 'TMEM94', 'score': 3.04}, {'connected_gene': 'HID1', 'score': 2.23}, {'connected_gene': 'CDR2L', 'score': 2.23}]
chr17	GH17I075009	75009326	75009475	0.9	[{'connected_gene': 'GC17M075008', 'score': 550.77}, {'connected_gene': 'CDR2L', 'score': 12.12}, {'connected_gene': 'RNU6-362P', 'score': 11.51}, {'connected_gene': 'KCTD2', 'score': 11.3}, {'connected_gene': 'ATP5PD', 'score': 11.23}, {'connected_gene': 'FADS6', 'score': 10.76}, {'connected_gene': 'PIR50215', 'score': 0.39}]
chr17	GH17I074840	74840546	74843945	1.18	[{'connected_gene': 'PIR37943', 'score': 550.77}, {'connected_gene': 'GRIN2C', 'score': 14.71}, {'connected_gene': 'FDXR', 'score': 11.4}, {'connected_gene': 'FADS6', 'score': 10.95}, {'connected_gene': 'PIR51683', 'score': 0.28}]
chr17	GH17I074998	74998105	74999032	0.2	[{'connected_gene': 'GC17M074998', 'score': 550.77}, {'connected_gene': 'PIR50215', 'score': 550.77}, {'connected_gene': 'PIR34370', 'score': 550.77}, {'connected_gene': 'RNU6-362P', 'score': 11.2}, {'connected_gene': 'OTOP3', 'score': 11.06}, {'connected_gene': 'KCTD2', 'score': 10.81}, {'connected_gene': 'ATP5PD', 'score': 10.77}, {'connected_gene': 'FADS6', 'score': 10.57}, {'connected_gene': 'CDR2L', 'score': 0.39}]
chr17	GH17I075007	75007447	75008791	0.67	[{'connected_gene': 'GC17M075008', 'score': 550.77}, {'connected_gene': 'ATP5PD', 'score': 17.65}, {'connected_gene': 'CDR2L', 'score': 12.53}, {'connected_gene': 'KCTD2', 'score': 11.68}, {'connected_gene': 'RNU6-362P', 'score': 11.62}, {'connected_gene': 'FADS6', 'score': 10.77}, {'connected_gene': 'MRPL58', 'score': 9.78}, {'connected_gene': 'PIR50215', 'score': 0.44}]