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
ENST00000299314	[[102139274, 102141019], [102142878, 102142969], [102147149, 102147317], [102150989, 102151088], [102151349, 102151435], [102153807, 102153921], [102154904, 102155124], [102155341, 102155541], [102157979, 102159082], [102159868, 102160072], [102161814, 102161938], [102163798, 102163969], [102164183, 102164363], [102164773, 102164935], [102173929, 102174064], [102174334, 102174399], [102179789, 102179995], [102182325, 102182367], [102183715, 102183835], [102190454, 102190540], [102224336, 102224716]]	[[102140941, 102141019], [102142878, 102142969], [102147149, 102147317], [102150989, 102151088], [102151349, 102151435], [102153807, 102153921], [102154904, 102155124], [102155341, 102155541], [102157979, 102159082], [102159868, 102160072], [102161814, 102161938], [102163798, 102163969], [102164183, 102164363], [102164773, 102164935], [102173929, 102174064], [102174334, 102174399], [102179789, 102179995], [102182325, 102182367], [102183715, 102183835], [102190454, 102190540], [102224336, 102224453]]
ENST00000549738	[[102142919, 102142969], [102147149, 102147317], [102150197, 102150344], [102150989, 102151088], [102151349, 102151435]]	[[102150238, 102150344], [102150989, 102151088], [102151349, 102151435]]
ENST00000550718	[[102149992, 102150344], [102150989, 102151088], [102151349, 102151435], [102153807, 102153868]]	[[102150238, 102150344], [102150989, 102151088], [102151349, 102151435], [102153807, 102153868]]
ENST00000549194	[[102150719, 102151088], [102151349, 102151435], [102153807, 102153922]]	None
ENST00000552009	[[102159538, 102160072], [102161814, 102161881]]	None
ENST00000549940	[[102161687, 102161938], [102163798, 102163969], [102164183, 102164363], [102164773, 102164935], [102173929, 102174064], [102174334, 102174399], [102179789, 102179995], [102182325, 102182367], [102183715, 102183835], [102190454, 102190540], [102224336, 102224596]]	[[102161749, 102161938], [102163798, 102163969], [102164183, 102164363], [102164773, 102164935], [102173929, 102174064], [102174334, 102174399], [102179789, 102179995], [102182325, 102182367], [102183715, 102183835], [102190454, 102190540], [102224336, 102224453]]
ENST00000552681	[[102172067, 102174064], [102174334, 102174399], [102179789, 102179994]]	[[102173917, 102174064], [102174334, 102174399], [102179789, 102179994]]
ENST00000550352	[[102179367, 102179995], [102182325, 102182367], [102183715, 102183832]]	None
ENST00000392919	[[102189651, 102190040], [102190454, 102190540], [102224336, 102224621]]	[[102190027, 102190040], [102190454, 102190540], [102224336, 102224453]]
ENST00000549165	[[102190288, 102190540], [102224336, 102224457]]	[[102190450, 102190540], [102224336, 102224453]]
NM_024312	[[102139274, 102141019], [102142878, 102142969], [102147149, 102147317], [102150989, 102151088], [102151349, 102151435], [102153807, 102153921], [102154904, 102155124], [102155341, 102155541], [102157979, 102159082], [102159868, 102160072], [102161814, 102161938], [102163798, 102163969], [102164183, 102164363], [102164773, 102164935], [102173929, 102174064], [102174334, 102174399], [102179789, 102179995], [102182325, 102182367], [102183715, 102183835], [102190454, 102190540], [102224336, 102224645]]	[[102140941, 102141019], [102142878, 102142969], [102147149, 102147317], [102150989, 102151088], [102151349, 102151435], [102153807, 102153921], [102154904, 102155124], [102155341, 102155541], [102157979, 102159082], [102159868, 102160072], [102161814, 102161938], [102163798, 102163969], [102164183, 102164363], [102164773, 102164935], [102173929, 102174064], [102174334, 102174399], [102179789, 102179995], [102182325, 102182367], [102183715, 102183835], [102190454, 102190540], [102224336, 102224453]]

Promoter

Chrom	Start	End	Description
chr12	102224578	102224667	CAGE_peak_1_at_GNPTAB_5end
chr12	102224704	102224750	CAGE_peak_2_at_GNPTAB_5end
chr12	102224752	102224763	CAGE_peak_3_at_GNPTAB_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I101917	101917600	101918200	1.19	[{'connected_gene': 'GNPTAB', 'score': 9.57}, {'connected_gene': 'CHPT1', 'score': 5.32}, {'connected_gene': 'DRAM1', 'score': 4.54}, {'connected_gene': 'PIR46358', 'score': 0.44}]
chr12	GH12I101712	101712429	101716118	1.3	[{'connected_gene': 'GNPTAB', 'score': 26.35}, {'connected_gene': 'CHPT1', 'score': 22.62}, {'connected_gene': 'SYCP3', 'score': 11.35}, {'connected_gene': 'RNU6-101P', 'score': 11.09}, {'connected_gene': 'RNA5SP369', 'score': 10.11}, {'connected_gene': 'GC12P101721', 'score': 0.44}]
chr12	GH12I101821	101821817	101826400	0.93	[{'connected_gene': 'GNPTAB', 'score': 15.46}, {'connected_gene': 'CHPT1', 'score': 14.73}, {'connected_gene': 'RNU6-172P', 'score': 0.31}]
chr12	GH12I101806	101806201	101806600	0.38	[{'connected_gene': 'GNPTAB', 'score': 15.04}, {'connected_gene': 'CHPT1', 'score': 13.21}, {'connected_gene': 'RNU6-172P', 'score': 0.44}]
chr12	GH12I101828	101828144	101831470	1.94	[{'connected_gene': 'GNPTAB', 'score': 567.23}, {'connected_gene': 'CHPT1', 'score': 19.18}, {'connected_gene': 'RNU6-172P', 'score': 0.29}]
chr12	GH12I101791	101791683	101794228	1.3	[{'connected_gene': 'GNPTAB', 'score': 41.49}, {'connected_gene': 'CHPT1', 'score': 15.21}, {'connected_gene': 'RNA5SP369', 'score': 12.07}, {'connected_gene': 'SYCP3', 'score': 9.6}, {'connected_gene': 'DRAM1', 'score': 1.38}, {'connected_gene': 'RNU6-172P', 'score': 0.77}, {'connected_gene': 'RNA5SP368', 'score': 0.39}]
chr12	GH12I101776	101776556	101778373	0.63	[{'connected_gene': 'GNPTAB', 'score': 21.12}, {'connected_gene': 'CHPT1', 'score': 20.72}, {'connected_gene': 'RNA5SP369', 'score': 12.52}, {'connected_gene': 'GC12P101780', 'score': 0.77}, {'connected_gene': 'ST13P22', 'score': 0.77}]
chr12	GH12I101894	101894349	101895611	1.02	[{'connected_gene': 'GNPTAB', 'score': 22.3}, {'connected_gene': 'RNU6-1183P', 'score': 13.12}, {'connected_gene': 'RNA5SP369', 'score': 11.5}, {'connected_gene': 'RNU6-101P', 'score': 10.69}, {'connected_gene': 'CHPT1', 'score': 7.5}, {'connected_gene': 'DRAM1', 'score': 5.99}, {'connected_gene': 'PIR46358', 'score': 0.31}]
chr12	GH12I101775	101775765	101776300	0.54	[{'connected_gene': 'GNPTAB', 'score': 12.53}, {'connected_gene': 'RNA5SP369', 'score': 12.51}, {'connected_gene': 'CHPT1', 'score': 9.11}, {'connected_gene': 'GC12P101780', 'score': 0.77}, {'connected_gene': 'ST13P22', 'score': 0.77}]
chr12	GH12I101907	101907781	101910400	1.27	[{'connected_gene': 'GNPTAB', 'score': 20.89}, {'connected_gene': 'RNA5SP369', 'score': 10.45}, {'connected_gene': 'SYCP3', 'score': 9.67}, {'connected_gene': 'DRAM1', 'score': 9.12}, {'connected_gene': 'CHPT1', 'score': 9.01}, {'connected_gene': 'PIR46358', 'score': 0.39}]
chr12	GH12I101827	101827001	101827399	0.49	[{'connected_gene': 'CHPT1', 'score': 13.75}, {'connected_gene': 'GNPTAB', 'score': 0.77}, {'connected_gene': 'RNU6-172P', 'score': 0.29}]
chr12	GH12I101826	101826700	101826980	0.56	[{'connected_gene': 'CHPT1', 'score': 20.58}, {'connected_gene': 'GNPTAB', 'score': 0.77}, {'connected_gene': 'RNU6-172P', 'score': 0.29}]
chr12	GH12I101742	101742227	101745478	0.89	[{'connected_gene': 'CHPT1', 'score': 38.4}, {'connected_gene': 'GNPTAB', 'score': 20.67}, {'connected_gene': 'RNA5SP369', 'score': 10.35}, {'connected_gene': 'SYCP3', 'score': 0.77}, {'connected_gene': 'GC12P101765', 'score': 0.34}]
chr12	GH12I101695	101695230	101702145	2.47	[{'connected_gene': 'CHPT1', 'score': 591.32}, {'connected_gene': 'ARL1', 'score': 11.05}, {'connected_gene': 'GNPTAB', 'score': 5.37}, {'connected_gene': 'ENSG00000274560', 'score': 0.77}, {'connected_gene': 'GC12P101721', 'score': 0.34}]
chr12	GH12I101734	101734579	101738637	0.38	[{'connected_gene': 'CHPT1', 'score': 33.2}, {'connected_gene': 'RNU6-101P', 'score': 10.48}, {'connected_gene': 'GNPTAB', 'score': 6.1}, {'connected_gene': 'SYCP3', 'score': 0.77}, {'connected_gene': 'RNY1P16', 'score': 0.37}]
chr12	GH12I101725	101725470	101726555	0.2	[{'connected_gene': 'CHPT1', 'score': 17.29}, {'connected_gene': 'RNU6-101P', 'score': 10.9}, {'connected_gene': 'GNPTAB', 'score': 9.51}, {'connected_gene': 'RNY1P16', 'score': 0.44}, {'connected_gene': 'SYCP3', 'score': 0.39}]
chr12	GH12I101888	101888800	101893895	1.41	[{'connected_gene': 'DRAM1', 'score': 28.19}, {'connected_gene': 'GNPTAB', 'score': 24.15}, {'connected_gene': 'CHPT1', 'score': 12.03}, {'connected_gene': 'RNA5SP369', 'score': 11.51}, {'connected_gene': 'RNU6-101P', 'score': 10.69}, {'connected_gene': 'PIR46358', 'score': 0.29}]
chr12	GH12I101902	101902331	101903253	0.82	[{'connected_gene': 'DRAM1', 'score': 9.81}, {'connected_gene': 'GNPTAB', 'score': 8.99}, {'connected_gene': 'PIR46358', 'score': 0.34}]
chr12	GH12I101858	101858945	101861228	1.27	[{'connected_gene': 'DRAM1', 'score': 23.56}, {'connected_gene': 'CHPT1', 'score': 15.24}, {'connected_gene': 'GNPTAB', 'score': 11.54}, {'connected_gene': 'RNU6-1183P', 'score': 0.39}, {'connected_gene': 'RNA5SP369', 'score': 0.34}]
chr12	GH12I101854	101854169	101858205	1.49	[{'connected_gene': 'DRAM1', 'score': 17.55}, {'connected_gene': 'CHPT1', 'score': 11.5}, {'connected_gene': 'GNPTAB', 'score': 8.88}, {'connected_gene': 'RNU6-1183P', 'score': 0.37}, {'connected_gene': 'RNA5SP369', 'score': 0.37}]
chr12	GH12I101875	101875119	101879576	2.38	[{'connected_gene': 'DRAM1', 'score': 577.07}, {'connected_gene': 'ENSG00000257222', 'score': 13.24}, {'connected_gene': 'CHPT1', 'score': 13.14}, {'connected_gene': 'UTP20', 'score': 10.32}, {'connected_gene': 'PARPBP', 'score': 9.8}, {'connected_gene': 'GNPTAB', 'score': 9.8}, {'connected_gene': 'PIR46358', 'score': 0.25}]
chr12	GH12I101709	101709418	101711478	0.69	[{'connected_gene': 'SYCP3', 'score': 10.92}, {'connected_gene': 'RNU6-101P', 'score': 10.84}, {'connected_gene': 'RNA5SP369', 'score': 9.85}, {'connected_gene': 'GNPTAB', 'score': 9.85}, {'connected_gene': 'CHPT1', 'score': 5.59}, {'connected_gene': 'GC12P101721', 'score': 0.44}]
chr12	GH12I101942	101942383	101942532	0.4	[{'connected_gene': 'IGF1', 'score': 10.25}, {'connected_gene': 'GNPTAB', 'score': 5.33}, {'connected_gene': 'RPL9P24', 'score': 0.44}, {'connected_gene': 'ENSG00000258308', 'score': 0.37}, {'connected_gene': 'DRAM1', 'score': 0.2}]
chr12	GH12I101797	101797703	101797742	0.22	[{'connected_gene': 'RNU6-172P', 'score': 550.77}, {'connected_gene': 'GNPTAB', 'score': 12.74}, {'connected_gene': 'RNA5SP369', 'score': 12.72}, {'connected_gene': 'SYCP3', 'score': 9.39}]
chr12	GH12I101802	101802583	101802732	0.2	[{'connected_gene': 'RNU6-172P', 'score': 0.44}, {'connected_gene': 'GNPTAB', 'score': 0.31}]
chr12	GH12I101810	101810801	101811200	0.43	[{'connected_gene': 'RNU6-172P', 'score': 0.39}, {'connected_gene': 'GNPTAB', 'score': 0.37}]
chr12	GH12I101780	101780401	101781020	0.31	[{'connected_gene': 'RNA5SP368', 'score': 550.77}, {'connected_gene': 'GC12P101780', 'score': 550.77}, {'connected_gene': 'GNPTAB', 'score': 12.27}, {'connected_gene': 'RNA5SP369', 'score': 12.26}, {'connected_gene': 'SYCP3', 'score': 10.3}, {'connected_gene': 'CHPT1', 'score': 9.74}, {'connected_gene': 'RNU6-172P', 'score': 0.37}]
chr12	GH12I101929	101929915	101940421	1.61	[{'connected_gene': 'RPL9P24', 'score': 550.77}, {'connected_gene': 'GNPTAB', 'score': 15.23}, {'connected_gene': 'WASHC3', 'score': 10.53}, {'connected_gene': 'IGF1', 'score': 10.25}, {'connected_gene': 'RNA5SP369', 'score': 10.14}, {'connected_gene': 'RNU6-101P', 'score': 9.92}, {'connected_gene': 'SYCP3', 'score': 9.42}, {'connected_gene': 'DRAM1', 'score': 8.55}, {'connected_gene': 'CHPT1', 'score': 7.05}, {'connected_gene': 'GC12P101929', 'score': 0.44}]
chr12	GH12I101759	101759563	101759692	0.64	[{'connected_gene': 'GC12P101765', 'score': 0.44}, {'connected_gene': 'SYCP3', 'score': 0.34}, {'connected_gene': 'GNPTAB', 'score': 0.19}]
chr12	GH12I101763	101763467	101763986	0.38	[{'connected_gene': 'GC12P101765', 'score': 550.77}, {'connected_gene': 'RNU6-101P', 'score': 550.77}, {'connected_gene': 'GNPTAB', 'score': 18.45}, {'connected_gene': 'SYCP3', 'score': 0.34}]
chr12	GH12I101764	101764543	101764692	0.52	[{'connected_gene': 'GC12P101765', 'score': 550.77}, {'connected_gene': 'RNU6-101P', 'score': 550.77}, {'connected_gene': 'SYCP3', 'score': 0.31}, {'connected_gene': 'GNPTAB', 'score': 0.2}]
chr12	GH12I101771	101771515	101773531	0.66	[{'connected_gene': 'GC12M101774', 'score': 550.77}, {'connected_gene': 'ST13P22', 'score': 550.77}, {'connected_gene': 'GNPTAB', 'score': 29.85}, {'connected_gene': 'CHPT1', 'score': 21.75}, {'connected_gene': 'RNA5SP369', 'score': 12.05}, {'connected_gene': 'RNU6-1183P', 'score': 11.16}, {'connected_gene': 'DRAM1', 'score': 11.15}, {'connected_gene': 'SYCP3', 'score': 10.81}, {'connected_gene': 'RNU6-101P', 'score': 0.44}]
chr12	GH12I101773	101773683	101773892	0.68	[{'connected_gene': 'GC12M101774', 'score': 550.77}, {'connected_gene': 'ST13P22', 'score': 550.77}, {'connected_gene': 'GNPTAB', 'score': 12.06}, {'connected_gene': 'RNA5SP369', 'score': 12.05}, {'connected_gene': 'RNU6-1183P', 'score': 11.16}, {'connected_gene': 'DRAM1', 'score': 11.15}, {'connected_gene': 'SYCP3', 'score': 10.47}, {'connected_gene': 'GC12P101780', 'score': 0.44}]
chr12	GH12I101924	101924313	101928600	1.1	[{'connected_gene': 'ENSG00000257202', 'score': 550.77}, {'connected_gene': 'GC12P101926', 'score': 550.77}, {'connected_gene': 'GC12P101925', 'score': 550.77}, {'connected_gene': 'RNA5SP369', 'score': 10.15}, {'connected_gene': 'GNPTAB', 'score': 10.14}, {'connected_gene': 'IGF1', 'score': 9.85}, {'connected_gene': 'SYCP3', 'score': 9.43}, {'connected_gene': 'DRAM1', 'score': 9.26}, {'connected_gene': 'CHPT1', 'score': 8.36}, {'connected_gene': 'GC12P101929', 'score': 0.77}]