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
ENST00000298690	[[21510384, 21510601], [21511111, 21512392]]	[[21511151, 21511622]]
ENST00000481538	[[21510474, 21510601], [21511111, 21511771], [21512258, 21512393]]	[[21511151, 21511622]]
NM_032572	[[21510384, 21510601], [21511111, 21512392]]	[[21511151, 21511622]]

Promoter

Chrom	Start	End	Description
chr14	21510433	21510440	CAGE_peak_4_at_RNASE7_5end
chr14	21510460	21510479	CAGE_peak_2_at_RNASE7_5end
chr14	21510487	21510506	CAGE_peak_3_at_RNASE7_5end
chr14	21510511	21510528	CAGE_peak_1_at_RNASE7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I057927	57927510	57928994	1.03	[{'connected_gene': 'STX16', 'score': 14.81}, {'connected_gene': 'RAE1', 'score': 12.77}, {'connected_gene': 'PPP4R1L', 'score': 12.71}, {'connected_gene': 'LOC101927932', 'score': 10.58}, {'connected_gene': 'ENSG00000254419', 'score': 9.76}, {'connected_gene': 'ENSG00000203971', 'score': 0.29}, {'connected_gene': 'MIR4532', 'score': 0.29}]
chr20	GH20I057175	57175409	57175701	0.5	[{'connected_gene': 'RAE1', 'score': 1.91}, {'connected_gene': 'BMP7', 'score': 1.38}, {'connected_gene': 'LOC105372686', 'score': 0.39}, {'connected_gene': 'BMP7-AS1', 'score': 0.28}]
chr20	GH20I057148	57148375	57148623	0.37	[{'connected_gene': 'RAE1', 'score': 2.3}, {'connected_gene': 'BMP7', 'score': 1.59}, {'connected_gene': 'ENSG00000280220', 'score': 0.39}, {'connected_gene': 'LOC105372685', 'score': 0.39}]
chr20	GH20I057150	57150028	57150142	0.22	[{'connected_gene': 'RAE1', 'score': 2.1}, {'connected_gene': 'BMP7', 'score': 1.96}, {'connected_gene': 'ENSG00000280220', 'score': 0.39}, {'connected_gene': 'LOC105372685', 'score': 0.39}]
chr14	GH14I021014	21014522	21016092	1.09	[{'connected_gene': 'RNASE7', 'score': 11.35}, {'connected_gene': 'ARHGEF40', 'score': 11.26}, {'connected_gene': 'NDRG2', 'score': 11.25}, {'connected_gene': 'ZNF219', 'score': 11.14}, {'connected_gene': 'METTL17', 'score': 10.98}, {'connected_gene': 'TMEM253', 'score': 10.91}, {'connected_gene': 'GC14M021020', 'score': 0.44}, {'connected_gene': 'GC14P021091', 'score': 0.39}]
chr14	GH14I021041	21041172	21043129	1.18	[{'connected_gene': 'RNASE7', 'score': 550.77}, {'connected_gene': 'RNASE13', 'score': 0.44}, {'connected_gene': 'NDRG2', 'score': 0.31}]
chr14	GH14I021037	21037898	21040708	1.01	[{'connected_gene': 'RNASE7', 'score': 5.95}, {'connected_gene': 'RNASE13', 'score': 0.77}, {'connected_gene': 'NDRG2', 'score': 0.29}]
chr20	GH20I057092	57092185	57092374	0.94	[{'connected_gene': 'RAE1', 'score': 11.05}, {'connected_gene': 'CSTF1', 'score': 10.21}, {'connected_gene': 'ENSG00000231078', 'score': 0.39}, {'connected_gene': 'LOC105372683', 'score': 0.13}]
chr20	GH20I057596	57596583	57597608	1.09	[{'connected_gene': 'RAE1', 'score': 12.57}, {'connected_gene': 'ENSG00000227297', 'score': 0.77}, {'connected_gene': 'LOC105372690', 'score': 0.37}]
chr20	GH20I057167	57167256	57169480	0.99	[{'connected_gene': 'RAE1', 'score': 5.49}, {'connected_gene': 'LOC105372686', 'score': 0.44}, {'connected_gene': 'BMP7-AS1', 'score': 0.25}, {'connected_gene': 'BMP7', 'score': 0.15}]
chr14	GH14I021043	21043200	21045151	0.91	[{'connected_gene': 'RNASE7', 'score': 555.86}, {'connected_gene': 'PARP2', 'score': 13.42}, {'connected_gene': 'PIP4P1', 'score': 11.59}, {'connected_gene': 'NDRG2', 'score': 11.55}, {'connected_gene': 'ARHGEF40', 'score': 11.55}, {'connected_gene': 'ZNF219', 'score': 10.9}, {'connected_gene': 'TMEM253', 'score': 10.54}, {'connected_gene': 'ENSG00000258515', 'score': 9.82}, {'connected_gene': 'ENSG00000258768', 'score': 9.68}, {'connected_gene': 'LOC105370398', 'score': 0.44}]
chr20	GH20I057449	57449925	57452664	1.63	[{'connected_gene': 'RAE1', 'score': 11.13}, {'connected_gene': 'PIR61563', 'score': 0.44}, {'connected_gene': 'LOC100291105', 'score': 0.22}]
chr20	GH20I056629	56628598	56637966	2.13	[{'connected_gene': 'TFAP2C', 'score': 550.77}, {'connected_gene': 'CSTF1', 'score': 27.23}, {'connected_gene': 'ENSG00000280387', 'score': 14.51}, {'connected_gene': 'RNU6-1146P', 'score': 12.53}, {'connected_gene': 'RAE1', 'score': 12.53}, {'connected_gene': 'FAM209A', 'score': 11.23}, {'connected_gene': 'PTMAP6', 'score': 10.67}]
chr20	GH20I057371	57371822	57372973	0.2	[{'connected_gene': 'BMP7', 'score': 5.85}, {'connected_gene': 'MTRNR2L3', 'score': 0.39}, {'connected_gene': 'RBM38', 'score': 0.37}, {'connected_gene': 'RAE1', 'score': 0.34}]
chr20	GH20I058305	58305983	58311373	2.54	[{'connected_gene': 'RAB22A', 'score': 557.17}, {'connected_gene': 'PPP4R1L', 'score': 555.64}, {'connected_gene': 'NELFCD', 'score': 22.06}, {'connected_gene': 'RAE1', 'score': 20.65}, {'connected_gene': 'LOC101927932', 'score': 14.89}, {'connected_gene': 'STX16', 'score': 3.42}, {'connected_gene': 'ANKRD60', 'score': 0.18}]
chr20	GH20I057706	57706115	57711626	2.17	[{'connected_gene': 'PMEPA1', 'score': 550.77}, {'connected_gene': 'NKILA', 'score': 550.77}, {'connected_gene': 'GC20P057713', 'score': 550.77}, {'connected_gene': 'RAE1', 'score': 12.56}, {'connected_gene': 'GC20M057649', 'score': 0.22}]
chr14	GH14I021068	21068537	21073552	2.44	[{'connected_gene': 'ARHGEF40', 'score': 579.42}, {'connected_gene': 'NDRG2', 'score': 550.77}, {'connected_gene': 'TMEM253', 'score': 12.12}, {'connected_gene': 'ZNF219', 'score': 12.1}, {'connected_gene': 'RNASE7', 'score': 10.89}, {'connected_gene': 'TPPP2', 'score': 10.66}, {'connected_gene': 'RNASE13', 'score': 10.38}, {'connected_gene': 'ENSG00000255472', 'score': 10.38}, {'connected_gene': 'RNASE6', 'score': 2.28}, {'connected_gene': 'TOX4', 'score': 1.78}, {'connected_gene': 'HNRNPC', 'score': 1.69}, {'connected_gene': 'PIR44581', 'score': 0.34}]
chr20	GH20I057493	57493215	57494100	0.2	[{'connected_gene': 'RBM38', 'score': 12.42}, {'connected_gene': 'LOC100291105', 'score': 12.42}, {'connected_gene': 'MTND1P9', 'score': 11.25}, {'connected_gene': 'MTRNR2L3', 'score': 11.25}, {'connected_gene': 'RAE1', 'score': 11.25}, {'connected_gene': 'CTCFL', 'score': 10.74}, {'connected_gene': 'PCK1', 'score': 10.28}, {'connected_gene': 'HMGB1P1', 'score': 9.17}]
chr20	GH20I057498	57498401	57499000	1.08	[{'connected_gene': 'RBM38', 'score': 12.42}, {'connected_gene': 'LOC100291105', 'score': 12.42}, {'connected_gene': 'MTRNR2L3', 'score': 11.25}, {'connected_gene': 'RAE1', 'score': 11.25}, {'connected_gene': 'MTND1P9', 'score': 11.25}, {'connected_gene': 'CTCFL', 'score': 10.76}, {'connected_gene': 'PCK1', 'score': 10.29}, {'connected_gene': 'HMGB1P1', 'score': 7.26}]
chr20	GH20I057495	57495001	57495558	1.26	[{'connected_gene': 'RBM38', 'score': 12.42}, {'connected_gene': 'LOC100291105', 'score': 12.42}, {'connected_gene': 'MTRNR2L3', 'score': 11.25}, {'connected_gene': 'MTND1P9', 'score': 11.25}, {'connected_gene': 'RAE1', 'score': 11.25}, {'connected_gene': 'CTCFL', 'score': 10.74}, {'connected_gene': 'PCK1', 'score': 10.28}, {'connected_gene': 'HMGB1P1', 'score': 8.8}]
chr20	GH20I058236	58236401	58238705	1.16	[{'connected_gene': 'PPP4R1L', 'score': 23.69}, {'connected_gene': 'RAE1', 'score': 12.53}, {'connected_gene': 'RAB22A', 'score': 11.02}, {'connected_gene': 'ENSG00000254419', 'score': 9.77}, {'connected_gene': 'ANKRD60', 'score': 7.64}]
chr20	GH20I057715	57715803	57719400	1.36	[{'connected_gene': 'PPP4R1L', 'score': 12.69}, {'connected_gene': 'RAE1', 'score': 12.56}, {'connected_gene': 'ENSG00000254419', 'score': 9.75}, {'connected_gene': 'LOC105372692', 'score': 0.77}, {'connected_gene': 'PMEPA1', 'score': 0.44}]
chr14	GH14I020997	20997235	21000135	1.37	[{'connected_gene': 'SLC39A2', 'score': 565.85}, {'connected_gene': 'LOC101929718', 'score': 550.77}, {'connected_gene': 'TPPP2', 'score': 11.17}, {'connected_gene': 'ENSG00000255472', 'score': 10.85}, {'connected_gene': 'RNASE13', 'score': 10.84}, {'connected_gene': 'ZNF219', 'score': 10.62}, {'connected_gene': 'TMEM253', 'score': 10.59}, {'connected_gene': 'RNASE7', 'score': 10.29}, {'connected_gene': 'METTL17', 'score': 0.44}]
chr20	GH20I057038	57038925	57039074	0.84	[{'connected_gene': 'CSTF1', 'score': 24.48}, {'connected_gene': 'FAM209A', 'score': 24.27}, {'connected_gene': 'ENSG00000280387', 'score': 24.21}, {'connected_gene': 'GCNT7', 'score': 22.71}, {'connected_gene': 'RAE1', 'score': 12.8}, {'connected_gene': 'LOC105372683', 'score': 0.21}, {'connected_gene': 'ENSG00000231078', 'score': 0.2}]
chr20	GH20I056778	56778365	56780680	0.97	[{'connected_gene': 'CSTF1', 'score': 13.17}, {'connected_gene': 'GCNT7', 'score': 10.98}, {'connected_gene': 'RAE1', 'score': 10.62}, {'connected_gene': 'GC20M056786', 'score': 0.44}, {'connected_gene': 'RNU6-929P', 'score': 0.44}, {'connected_gene': 'ENSG00000231604', 'score': 0.25}]
chr20	GH20I057374	57374518	57376400	0.92	[{'connected_gene': 'CTCFL', 'score': 10.52}, {'connected_gene': 'ANKRD60', 'score': 9.24}, {'connected_gene': 'BMP7', 'score': 5.89}, {'connected_gene': 'RBM38', 'score': 5.06}, {'connected_gene': 'MTRNR2L3', 'score': 0.37}, {'connected_gene': 'RAE1', 'score': 0.34}]
chr20	GH20I057349	57349933	57352938	2.02	[{'connected_gene': 'LOC105372687', 'score': 550.77}, {'connected_gene': 'RAE1', 'score': 550.77}, {'connected_gene': 'RBM38', 'score': 10.91}, {'connected_gene': 'LOC100291105', 'score': 10.89}, {'connected_gene': 'BMP7', 'score': 5.93}, {'connected_gene': 'MTND1P9', 'score': 0.44}]
chr14	GH14I021048	21048762	21048871	0.77	[{'connected_gene': 'LOC105370398', 'score': 550.77}, {'connected_gene': 'TMEM253', 'score': 10.91}, {'connected_gene': 'ZNF219', 'score': 10.9}, {'connected_gene': 'RNASE7', 'score': 0.44}, {'connected_gene': 'NDRG2', 'score': 0.34}]
chr20	GH20I057503	57503001	57503930	0.82	[{'connected_gene': 'MTND1P9', 'score': 11.58}, {'connected_gene': 'MTRNR2L3', 'score': 11.58}, {'connected_gene': 'RBM38', 'score': 11.58}, {'connected_gene': 'LOC100291105', 'score': 11.58}, {'connected_gene': 'RAE1', 'score': 11.57}, {'connected_gene': 'CTCFL', 'score': 11.56}, {'connected_gene': 'PCK1', 'score': 10.56}, {'connected_gene': 'ZBP1', 'score': 10.53}, {'connected_gene': 'RPL39P39', 'score': 9.85}, {'connected_gene': 'SPO11', 'score': 9.85}, {'connected_gene': 'ANKRD60', 'score': 9.61}, {'connected_gene': 'HMGB1P1', 'score': 8.98}]
chr20	GH20I057360	57360707	57362376	0.56	[{'connected_gene': 'MTRNR2L3', 'score': 550.77}, {'connected_gene': 'BMP7', 'score': 4.8}, {'connected_gene': 'RAE1', 'score': 0.39}, {'connected_gene': 'RBM38', 'score': 0.31}]
chr20	GH20I057361	57359913	57359972	0.5	[{'connected_gene': 'MTRNR2L3', 'score': 550.77}, {'connected_gene': 'MTND1P9', 'score': 550.77}, {'connected_gene': 'GC20M057367', 'score': 550.77}, {'connected_gene': 'NMTRL-TAA5-1', 'score': 550.77}, {'connected_gene': 'RAE1', 'score': 0.44}]
chr20	GH20I057359	57359183	57359242	0.5	[{'connected_gene': 'MTRNR2L3', 'score': 550.77}, {'connected_gene': 'MTND1P9', 'score': 550.77}, {'connected_gene': 'GC20M057367', 'score': 550.77}, {'connected_gene': 'NMTRL-TAA5-1', 'score': 550.77}, {'connected_gene': 'RBM38', 'score': 10.94}, {'connected_gene': 'LOC100291105', 'score': 10.94}, {'connected_gene': 'RAE1', 'score': 0.44}]
chr14	GH14I021034	21034781	21034840	0.5	[{'connected_gene': 'ENSG00000255472', 'score': 550.77}, {'connected_gene': 'RNASE13', 'score': 550.77}, {'connected_gene': 'RNASE7', 'score': 0.44}, {'connected_gene': 'TPPP2', 'score': 0.39}, {'connected_gene': 'NDRG2', 'score': 0.28}]