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
ENST00000351111	[[45900637, 45901824], [45904002, 45904147], [45904405, 45904570], [45905866, 45906036], [45908825, 45908883]]	[[45901570, 45901824], [45904002, 45904147], [45904405, 45904570], [45905866, 45906036], [45908825, 45908877]]
ENST00000290208	[[45900826, 45901824], [45904002, 45904147], [45904405, 45904570], [45905866, 45906036], [45906504, 45907039]]	[[45901570, 45901824], [45904002, 45904147], [45904405, 45904570], [45905866, 45906036], [45906504, 45906586]]
ENST00000414011	[[45900855, 45901824], [45904002, 45904147], [45904405, 45904570], [45905866, 45906036], [45906504, 45906602], [45908825, 45908900]]	[[45901570, 45901824], [45904002, 45904147], [45904405, 45904570], [45905866, 45906036], [45906504, 45906586]]
ENST00000421763	[[45900948, 45901824], [45904002, 45904147], [45904405, 45904570], [45905866, 45906036], [45908676, 45908896]]	[[45908730, 45908877]]
ENST00000466016	[[45904260, 45904570], [45905866, 45906036], [45908825, 45908889]]	None
ENST00000423147	[[45904439, 45904570], [45905866, 45906036], [45906504, 45906602], [45908676, 45908889]]	[[45908730, 45908877]]
ENST00000480901	[[45905673, 45906036], [45908676, 45908891]]	None
NR_037575	[[45900637, 45901824], [45904002, 45904147], [45904405, 45904570], [45905866, 45906036], [45908676, 45908907]]	None
NM_148887	[[45900637, 45901824], [45904002, 45904147], [45904405, 45904570], [45905866, 45906036], [45906504, 45906602], [45908825, 45908907]]	[[45901570, 45901824], [45904002, 45904147], [45904405, 45904570], [45905866, 45906036], [45906504, 45906586]]
NM_145255	[[45900637, 45901824], [45904002, 45904147], [45904405, 45904570], [45905866, 45906036], [45908825, 45908907]]	[[45901570, 45901824], [45904002, 45904147], [45904405, 45904570], [45905866, 45906036], [45908825, 45908877]]

Promoter

Chrom	Start	End	Description
chr17	45907240	45907261	CAGE_peak_2_at_MRPL10_5end
chr17	45908875	45908913	CAGE_peak_1_at_MRPL10_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I047842	47842950	47845319	1.32	[{'connected_gene': 'SCRN2', 'score': 26.58}, {'connected_gene': 'MRPL45P2', 'score': 14.81}, {'connected_gene': 'OSBPL7', 'score': 13.83}, {'connected_gene': 'ENSG00000264701', 'score': 13.39}, {'connected_gene': 'SP2', 'score': 13.29}, {'connected_gene': 'SKAP1', 'score': 11.92}, {'connected_gene': 'RPS2P47', 'score': 11.3}, {'connected_gene': 'EFCAB13', 'score': 11.02}, {'connected_gene': 'MRPL10', 'score': 5.92}, {'connected_gene': 'ENSG00000264243', 'score': 0.37}, {'connected_gene': 'SP6', 'score': 0.29}]
chr17	GH17I047872	47872107	47873752	1.16	[{'connected_gene': 'SCRN2', 'score': 28.57}, {'connected_gene': 'CALCOCO2', 'score': 15.61}, {'connected_gene': 'SP2', 'score': 11.89}, {'connected_gene': 'OSBPL7', 'score': 11.21}, {'connected_gene': 'PRR15L', 'score': 10.96}, {'connected_gene': 'LRRC46', 'score': 10.86}, {'connected_gene': 'HOXB4', 'score': 10.57}, {'connected_gene': 'ENSG00000266601', 'score': 10.56}, {'connected_gene': 'HOXB6', 'score': 10.17}, {'connected_gene': 'MRPL10', 'score': 6.51}, {'connected_gene': 'SP6', 'score': 0.77}, {'connected_gene': 'ENSG00000264243', 'score': 0.44}]
chr17	GH17I047828	47828225	47832410	2.27	[{'connected_gene': 'LRRC46', 'score': 577.18}, {'connected_gene': 'MRPL10', 'score': 565.01}, {'connected_gene': 'SCRN2', 'score': 24.83}, {'connected_gene': 'MRPL45P2', 'score': 16.4}, {'connected_gene': 'OSBPL7', 'score': 13.83}, {'connected_gene': 'SKAP1', 'score': 11.93}, {'connected_gene': 'SP2', 'score': 11.3}, {'connected_gene': 'HOXB4', 'score': 10.56}, {'connected_gene': 'ENSG00000266601', 'score': 10.5}, {'connected_gene': 'PRR15L', 'score': 10.23}, {'connected_gene': 'HOXB6', 'score': 10.17}, {'connected_gene': 'CDC27', 'score': 10.01}, {'connected_gene': 'PIR55502', 'score': 0.44}]
chr17	GH17I047826	47826437	47827764	0.31	[{'connected_gene': 'LRRC46', 'score': 27.15}, {'connected_gene': 'OSBPL7', 'score': 13.61}, {'connected_gene': 'SP2', 'score': 11.3}, {'connected_gene': 'PRR15L', 'score': 10.22}, {'connected_gene': 'MRPL10', 'score': 6.98}, {'connected_gene': 'PIR55502', 'score': 0.77}]
chr17	GH17I047986	47986908	47988301	0.9	[{'connected_gene': 'PRR15L', 'score': 31.4}, {'connected_gene': 'CDK5RAP3', 'score': 18.7}, {'connected_gene': 'MIR152', 'score': 10.8}, {'connected_gene': 'COPZ2', 'score': 10.76}, {'connected_gene': 'CBX1', 'score': 10.0}, {'connected_gene': 'SNX11', 'score': 9.99}, {'connected_gene': 'MIR1203', 'score': 9.81}, {'connected_gene': 'MRPL10', 'score': 5.03}, {'connected_gene': 'LOC102724532', 'score': 4.85}, {'connected_gene': 'ENSG00000264701', 'score': 0.44}]
chr17	GH17I047728	47728812	47737256	2.52	[{'connected_gene': 'TBX21', 'score': 570.75}, {'connected_gene': 'TBKBP1', 'score': 29.73}, {'connected_gene': 'OSBPL7', 'score': 20.74}, {'connected_gene': 'SCRN2', 'score': 16.04}, {'connected_gene': 'EFCAB13', 'score': 15.84}, {'connected_gene': 'MRPL45P2', 'score': 14.89}, {'connected_gene': 'SP2', 'score': 12.54}, {'connected_gene': 'RPS2P47', 'score': 12.02}, {'connected_gene': 'KPNB1', 'score': 11.18}, {'connected_gene': 'ENSG00000264701', 'score': 10.97}, {'connected_gene': 'MRPL10', 'score': 3.32}]
chr17	GH17I047737	47737294	47737416	0.54	[{'connected_gene': 'TBX21', 'score': 8.12}, {'connected_gene': 'OSBPL7', 'score': 4.15}, {'connected_gene': 'MRPL10', 'score': 1.59}, {'connected_gene': 'PIR42414', 'score': 0.19}]
chr17	GH17I047879	47879135	47879284	0.86	[{'connected_gene': 'MRPL10', 'score': 12.38}, {'connected_gene': 'LRRC46', 'score': 12.38}, {'connected_gene': 'SCRN2', 'score': 12.12}, {'connected_gene': 'OSBPL7', 'score': 11.05}, {'connected_gene': 'CDK5RAP3', 'score': 10.93}, {'connected_gene': 'PRR15L', 'score': 10.71}, {'connected_gene': 'SP2', 'score': 10.55}, {'connected_gene': 'KPNB1', 'score': 9.75}, {'connected_gene': 'SP6', 'score': 0.77}, {'connected_gene': 'ENSG00000266821', 'score': 0.77}]
chr17	GH17I047819	47819459	47823107	2.24	[{'connected_gene': 'OSBPL7', 'score': 559.78}, {'connected_gene': 'LRRC46', 'score': 26.78}, {'connected_gene': 'SP2', 'score': 13.83}, {'connected_gene': 'SKAP1', 'score': 11.93}, {'connected_gene': 'ENSG00000264701', 'score': 11.28}, {'connected_gene': 'EFCAB13', 'score': 11.19}, {'connected_gene': 'MRPL45P2', 'score': 11.12}, {'connected_gene': 'ENSG00000266601', 'score': 10.47}, {'connected_gene': 'RPS2P47', 'score': 10.24}, {'connected_gene': 'KPNB1', 'score': 10.11}, {'connected_gene': 'MRPL10', 'score': 5.83}, {'connected_gene': 'PIR42414', 'score': 0.39}]
chr17	GH17I048645	48645557	48648108	1.34	[{'connected_gene': 'LOC101060400', 'score': 550.77}, {'connected_gene': 'ENSG00000230532', 'score': 11.87}, {'connected_gene': 'HOXB2', 'score': 10.31}, {'connected_gene': 'HOXB9', 'score': 4.64}, {'connected_gene': 'ENSG00000266821', 'score': 4.6}, {'connected_gene': 'ATP5MC1', 'score': 4.59}, {'connected_gene': 'CALCOCO2', 'score': 4.39}, {'connected_gene': 'MRPL10', 'score': 4.24}, {'connected_gene': 'LINC02086', 'score': 0.77}]
chr17	GH17I048128	48128625	48128861	0.23	[{'connected_gene': 'GC17P048126', 'score': 550.77}, {'connected_gene': 'GC17P048129', 'score': 550.77}, {'connected_gene': 'SNX11', 'score': 23.67}, {'connected_gene': 'RNU6-1201P', 'score': 11.77}, {'connected_gene': 'CBX1', 'score': 11.63}, {'connected_gene': 'MIR1203', 'score': 11.21}, {'connected_gene': 'COPZ2', 'score': 11.19}, {'connected_gene': 'MIR152', 'score': 11.17}, {'connected_gene': 'NFE2L1', 'score': 10.97}, {'connected_gene': 'HOXB9', 'score': 10.23}, {'connected_gene': 'HOXB-AS4', 'score': 10.23}, {'connected_gene': 'TBX21', 'score': 9.48}, {'connected_gene': 'PRR15L', 'score': 8.55}, {'connected_gene': 'OSBPL7', 'score': 8.19}, {'connected_gene': 'SKAP1', 'score': 6.57}, {'connected_gene': 'MRPL10', 'score': 1.89}]
chr17	GH17I047808	47808859	47812291	1.31	[{'connected_gene': 'PIR42414', 'score': 550.77}, {'connected_gene': 'OSBPL7', 'score': 25.93}, {'connected_gene': 'LRRC46', 'score': 25.29}, {'connected_gene': 'SCRN2', 'score': 20.61}, {'connected_gene': 'MRPL10', 'score': 14.36}, {'connected_gene': 'SKAP1', 'score': 11.91}]