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
ENST00000216218	[[41220538, 41222670], [41223099, 41223233], [41225629, 41225678], [41226843, 41226960], [41228572, 41228675], [41231563, 41231674], [41231806, 41231891], [41236629, 41236696], [41240842, 41240913], [41244297, 41244373], [41246826, 41246884], [41252434, 41253026]]	[[41222541, 41222670], [41223099, 41223233], [41225629, 41225678], [41226843, 41226960], [41228572, 41228675], [41231563, 41231674], [41231806, 41231891], [41236629, 41236696], [41240842, 41240913], [41244297, 41244373], [41246826, 41246884], [41252434, 41252544]]
ENST00000480048	[[41223153, 41223233], [41225629, 41225678], [41226843, 41226960], [41231563, 41231909]]	None
ENST00000455824	[[41223224, 41223233], [41225629, 41225678], [41226843, 41226960], [41228572, 41228675], [41231563, 41231674], [41231806, 41231891], [41236629, 41236696], [41240842, 41240913], [41252434, 41252620]]	[[41240906, 41240913], [41252434, 41252544]]
ENST00000413424	[[41226878, 41226960], [41228090, 41228220], [41228572, 41228675], [41231563, 41231674], [41231806, 41231891], [41236629, 41236696], [41240842, 41240894]]	[[41228199, 41228220], [41228572, 41228675], [41231563, 41231674], [41231806, 41231891], [41236629, 41236696], [41240842, 41240894]]
ENST00000411695	[[41228655, 41228675], [41231563, 41231674], [41231806, 41231891], [41236629, 41236696], [41240842, 41240913], [41244297, 41244373], [41246826, 41246884], [41250541, 41250602]]	[[41228655, 41228675], [41231563, 41231674], [41231806, 41231891], [41236629, 41236696], [41240842, 41240913], [41244297, 41244373]]
ENST00000495652	[[41231396, 41231674], [41231806, 41231953]]	None
NM_003932	[[41220538, 41222670], [41223099, 41223233], [41225629, 41225678], [41226843, 41226960], [41228572, 41228675], [41231563, 41231674], [41231806, 41231891], [41236629, 41236696], [41240842, 41240913], [41244297, 41244373], [41246826, 41246884], [41252434, 41253012]]	[[41222541, 41222670], [41223099, 41223233], [41225629, 41225678], [41226843, 41226960], [41228572, 41228675], [41231563, 41231674], [41231806, 41231891], [41236629, 41236696], [41240842, 41240913], [41244297, 41244373], [41246826, 41246884], [41252434, 41252544]]
NM_001278589	[[41220538, 41222670], [41223099, 41223233], [41225629, 41225678], [41226843, 41226960], [41228572, 41228675], [41231563, 41231674], [41231806, 41231891], [41236629, 41236696], [41240842, 41240913], [41244297, 41244343], [41246826, 41246884], [41252434, 41253012]]	[[41222541, 41222670], [41223099, 41223233], [41225629, 41225678], [41226843, 41226960], [41228572, 41228675], [41231563, 41231674], [41231806, 41231891], [41236629, 41236696], [41240842, 41240913], [41244297, 41244343], [41246826, 41246884], [41252434, 41252544]]

Promoter

Chrom	Start	End	Description
chr22	41252634	41252669	CAGE_peak_1_at_ST13_5end
chr22	41252962	41252973	CAGE_peak_2_at_ST13_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr22	GH22I040950	40950009	40953124	2.33	[{'connected_gene': 'RBX1', 'score': 550.77}, {'connected_gene': 'EP300', 'score': 27.79}, {'connected_gene': 'XRCC6', 'score': 15.99}, {'connected_gene': 'EP300-AS1', 'score': 14.08}, {'connected_gene': 'ADSL', 'score': 13.05}, {'connected_gene': 'DNAJB7', 'score': 12.52}, {'connected_gene': 'XPNPEP3', 'score': 10.37}, {'connected_gene': 'ST13', 'score': 10.37}, {'connected_gene': 'GC22P040976', 'score': 0.31}]
chr22	GH22I040853	40853049	40858536	2.26	[{'connected_gene': 'XPNPEP3', 'score': 560.91}, {'connected_gene': 'GC22M042079', 'score': 550.77}, {'connected_gene': 'ST13', 'score': 550.77}, {'connected_gene': 'EP300', 'score': 19.68}, {'connected_gene': 'ENSG00000272834', 'score': 16.48}, {'connected_gene': 'ENSG00000227413', 'score': 12.19}, {'connected_gene': 'PHF5A', 'score': 11.89}, {'connected_gene': 'ENSG00000232754', 'score': 10.87}, {'connected_gene': 'TNRC6B', 'score': 10.79}, {'connected_gene': 'XRCC6', 'score': 10.0}, {'connected_gene': 'CSDC2', 'score': 4.94}, {'connected_gene': 'SLC25A17', 'score': 0.28}]
chr22	GH22I040764	40764201	40765400	0.66	[{'connected_gene': 'XPNPEP3', 'score': 20.5}, {'connected_gene': 'ST13', 'score': 10.54}, {'connected_gene': 'LOC101927257', 'score': 10.03}, {'connected_gene': 'LOC100313968', 'score': 0.34}, {'connected_gene': 'GC22M042190', 'score': 0.18}]
chr22	GH22I040760	40760377	40760526	0.59	[{'connected_gene': 'XPNPEP3', 'score': 10.53}, {'connected_gene': 'ST13', 'score': 10.53}, {'connected_gene': 'LOC101927257', 'score': 10.03}, {'connected_gene': 'LOC100313968', 'score': 0.31}, {'connected_gene': 'GC22M042190', 'score': 0.18}]
chr22	GH22I040647	40647336	40648854	0.4	[{'connected_gene': 'XPNPEP3', 'score': 16.45}, {'connected_gene': 'GAPDHP37', 'score': 12.32}, {'connected_gene': 'MCHR1', 'score': 12.31}, {'connected_gene': 'LOC101927257', 'score': 10.87}, {'connected_gene': 'ST13', 'score': 10.01}, {'connected_gene': 'LOC105373038', 'score': 0.77}, {'connected_gene': 'MKL1', 'score': 0.39}]
chr22	GH22I040954	40954525	40956534	0.57	[{'connected_gene': 'XPNPEP3', 'score': 14.43}, {'connected_gene': 'EP300', 'score': 12.31}, {'connected_gene': 'ST13', 'score': 10.37}, {'connected_gene': 'RBX1', 'score': 0.77}, {'connected_gene': 'GC22P040976', 'score': 0.34}]
chr22	GH22I041200	41200777	41201860	0.2	[{'connected_gene': 'XPNPEP3', 'score': 14.74}, {'connected_gene': 'RNU6-375P', 'score': 12.11}, {'connected_gene': 'ST13', 'score': 9.72}, {'connected_gene': 'LOC100506544', 'score': 6.88}, {'connected_gene': 'RANGAP1', 'score': 4.63}, {'connected_gene': 'EP300-AS1', 'score': 0.77}, {'connected_gene': 'L3MBTL2', 'score': 0.77}]
chr22	GH22I040780	40780789	40782806	0.46	[{'connected_gene': 'XPNPEP3', 'score': 17.46}, {'connected_gene': 'SLC25A17', 'score': 10.99}, {'connected_gene': 'ST13', 'score': 10.58}, {'connected_gene': 'LOC101927257', 'score': 9.07}, {'connected_gene': 'LOC100313968', 'score': 0.44}, {'connected_gene': 'GC22M042190', 'score': 0.15}]
chr22	GH22I040682	40682449	40686017	1.36	[{'connected_gene': 'XPNPEP3', 'score': 18.04}, {'connected_gene': 'LOC101927257', 'score': 10.5}, {'connected_gene': 'ST13', 'score': 9.92}, {'connected_gene': 'MCHR1', 'score': 3.14}, {'connected_gene': 'GC22M042190', 'score': 0.77}, {'connected_gene': 'LOC100313968', 'score': 0.14}]
chr22	GH22I040720	40720720	40721966	1.26	[{'connected_gene': 'XPNPEP3', 'score': 16.84}, {'connected_gene': 'LOC101927257', 'score': 10.24}, {'connected_gene': 'ST13', 'score': 10.21}, {'connected_gene': 'GC22M042190', 'score': 0.28}, {'connected_gene': 'LOC100313968', 'score': 0.2}]
chr22	GH22I040597	40597123	40598830	0.66	[{'connected_gene': 'MKL1', 'score': 17.8}, {'connected_gene': 'LOC101927257', 'score': 11.25}, {'connected_gene': 'XPNPEP3', 'score': 9.44}, {'connected_gene': 'ST13', 'score': 9.44}, {'connected_gene': 'RPL4P6', 'score': 0.44}]
chr22	GH22I040679	40679201	40680350	0.8	[{'connected_gene': 'MCHR1', 'score': 550.77}, {'connected_gene': 'XPNPEP3', 'score': 14.8}, {'connected_gene': 'LOC101927257', 'score': 10.51}, {'connected_gene': 'ST13', 'score': 9.92}, {'connected_gene': 'GC22M042190', 'score': 0.77}]
chr22	GH22I040644	40644090	40646986	1.33	[{'connected_gene': 'EP300', 'score': 20.42}, {'connected_gene': 'XPNPEP3', 'score': 16.45}, {'connected_gene': 'ENSG00000272834', 'score': 15.71}, {'connected_gene': 'PHF5A', 'score': 14.18}, {'connected_gene': 'ENSG00000232754', 'score': 12.37}, {'connected_gene': 'GAPDHP37', 'score': 12.32}, {'connected_gene': 'MCHR1', 'score': 12.31}, {'connected_gene': 'LOC101927257', 'score': 12.22}, {'connected_gene': 'EP300-AS1', 'score': 11.67}, {'connected_gene': 'TNRC6B', 'score': 11.45}, {'connected_gene': 'ENSG00000227413', 'score': 10.62}, {'connected_gene': 'ST13', 'score': 10.01}, {'connected_gene': 'XRCC6', 'score': 9.99}, {'connected_gene': 'ADSL', 'score': 6.43}, {'connected_gene': 'MKL1', 'score': 0.44}, {'connected_gene': 'LOC105373038', 'score': 0.44}]
chr22	GH22I040965	40965510	40967400	0.93	[{'connected_gene': 'EP300', 'score': 11.76}, {'connected_gene': 'RNU6-375P', 'score': 10.36}, {'connected_gene': 'XPNPEP3', 'score': 9.57}, {'connected_gene': 'ST13', 'score': 9.57}, {'connected_gene': 'MKL1', 'score': 5.16}, {'connected_gene': 'GC22P040976', 'score': 0.39}, {'connected_gene': 'RBX1', 'score': 0.37}]
chr22	GH22I040922	40922768	40923200	0.8	[{'connected_gene': 'EP300', 'score': 11.57}, {'connected_gene': 'RNU6-375P', 'score': 10.86}, {'connected_gene': 'XPNPEP3', 'score': 10.39}, {'connected_gene': 'ST13', 'score': 10.39}, {'connected_gene': 'RNU6-379P', 'score': 0.44}, {'connected_gene': 'PIR37442', 'score': 0.44}]
chr22	GH22I040257	40257842	40259888	0.92	[{'connected_gene': 'ADSL', 'score': 11.13}, {'connected_gene': 'TNRC6B', 'score': 10.62}, {'connected_gene': 'XPNPEP3', 'score': 8.88}, {'connected_gene': 'ST13', 'score': 8.88}, {'connected_gene': 'RPL3', 'score': 5.87}, {'connected_gene': 'GC22P040255', 'score': 0.77}, {'connected_gene': 'GC22M042667', 'score': 0.44}]
chr22	GH22I040308	40308630	40311311	0.83	[{'connected_gene': 'ADSL', 'score': 12.73}, {'connected_gene': 'TNRC6B', 'score': 10.29}, {'connected_gene': 'XPNPEP3', 'score': 8.91}, {'connected_gene': 'ST13', 'score': 8.91}, {'connected_gene': 'ATF4', 'score': 5.73}, {'connected_gene': 'GC22M042658', 'score': 0.31}]
chr22	GH22I040650	40650873	40655792	1.81	[{'connected_gene': 'LOC105373038', 'score': 550.77}, {'connected_gene': 'XPNPEP3', 'score': 16.7}, {'connected_gene': 'GAPDHP37', 'score': 12.81}, {'connected_gene': 'MCHR1', 'score': 12.78}, {'connected_gene': 'L3MBTL2', 'score': 12.22}, {'connected_gene': 'LOC101927257', 'score': 11.33}, {'connected_gene': 'SLC25A17', 'score': 10.78}, {'connected_gene': 'ZC3H7B', 'score': 10.1}, {'connected_gene': 'ST13', 'score': 10.01}, {'connected_gene': 'PMM1', 'score': 7.92}, {'connected_gene': 'ADSL', 'score': 6.53}, {'connected_gene': 'MKL1', 'score': 5.88}, {'connected_gene': 'RPL4P6', 'score': 4.67}, {'connected_gene': 'EP300', 'score': 1.45}, {'connected_gene': 'PIR60403', 'score': 0.37}]
chr22	GH22I040826	40826593	40827613	0.62	[{'connected_gene': 'EP300-AS1', 'score': 5.3}, {'connected_gene': 'MKL1', 'score': 4.38}, {'connected_gene': 'LOC100313968', 'score': 4.19}, {'connected_gene': 'SLC25A17', 'score': 0.44}, {'connected_gene': 'GC22M042079', 'score': 0.31}, {'connected_gene': 'ST13', 'score': 0.31}]
chr22	GH22I041197	41196577	41196726	0.49	[{'connected_gene': 'EP300-AS1', 'score': 550.77}, {'connected_gene': 'RNU6-375P', 'score': 12.12}, {'connected_gene': 'XPNPEP3', 'score': 9.73}, {'connected_gene': 'ST13', 'score': 9.73}, {'connected_gene': 'MEI1', 'score': 8.11}, {'connected_gene': 'LRRC37A14P', 'score': 0.44}]
chr22	GH22I041196	41196801	41198466	1.44	[{'connected_gene': 'EP300-AS1', 'score': 550.77}, {'connected_gene': 'LOC100506544', 'score': 19.49}, {'connected_gene': 'RNU6-375P', 'score': 12.12}, {'connected_gene': 'EP300', 'score': 9.92}, {'connected_gene': 'XPNPEP3', 'score': 9.72}, {'connected_gene': 'ST13', 'score': 9.72}, {'connected_gene': 'L3MBTL2', 'score': 0.44}]
chr22	GH22I040814	40814077	40814226	0.97	[{'connected_gene': 'MIR4766', 'score': 550.77}, {'connected_gene': 'PHF5A', 'score': 14.74}, {'connected_gene': 'EP300', 'score': 13.73}, {'connected_gene': 'ENSG00000272834', 'score': 11.22}, {'connected_gene': 'XPNPEP3', 'score': 11.05}, {'connected_gene': 'ST13', 'score': 11.05}, {'connected_gene': 'LOC101927257', 'score': 10.06}, {'connected_gene': 'SLC25A17', 'score': 0.44}]
chr22	GH22I040681	40680557	40680786	0.46	[{'connected_gene': 'GC22M042190', 'score': 550.77}, {'connected_gene': 'MCHR1', 'score': 550.77}, {'connected_gene': 'XPNPEP3', 'score': 14.77}, {'connected_gene': 'LOC101927257', 'score': 10.51}, {'connected_gene': 'ST13', 'score': 9.92}]
chr22	GH22I040680	40680357	40680506	0.38	[{'connected_gene': 'GC22M042190', 'score': 550.77}, {'connected_gene': 'MCHR1', 'score': 550.77}, {'connected_gene': 'LOC101927257', 'score': 10.51}, {'connected_gene': 'XPNPEP3', 'score': 9.92}, {'connected_gene': 'ST13', 'score': 9.92}]
chr22	GH22I040915	40915275	40916124	0.2	[{'connected_gene': 'ENSG00000273979', 'score': 550.77}, {'connected_gene': 'EP300', 'score': 10.59}, {'connected_gene': 'XPNPEP3', 'score': 10.49}, {'connected_gene': 'ST13', 'score': 10.49}, {'connected_gene': 'RNU6-375P', 'score': 10.33}, {'connected_gene': 'GC22M042634', 'score': 0.37}]