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
ENST00000422006	[[170648442, 170650342], [170657461, 170657536], [170661983, 170662087], [170662174, 170662349], [170663294, 170663402], [170663480, 170663581]]	[[170657470, 170657536], [170661983, 170662087], [170662174, 170662349], [170663294, 170663402], [170663480, 170663581]]
ENST00000260956	[[170655321, 170655486], [170657461, 170657536], [170661983, 170662087], [170662174, 170662349], [170663294, 170663402], [170663480, 170663581], [170664991, 170665063], [170665369, 170665412], [170666792, 170666933], [170667367, 170667554], [170667692, 170667833], [170668177, 170668574]]	[[170657470, 170657536], [170661983, 170662087], [170662174, 170662349], [170663294, 170663402], [170663480, 170663581], [170664991, 170665063], [170665369, 170665412], [170666792, 170666933], [170667367, 170667554], [170667692, 170667833], [170668177, 170668266]]
ENST00000413002	[[170655388, 170655486], [170657461, 170657536], [170661983, 170662087], [170662174, 170662349], [170662507, 170662623], [170663294, 170663400]]	[[170657470, 170657536], [170661983, 170662087], [170662174, 170662349], [170662507, 170662567]]
ENST00000417292	[[170655388, 170655486], [170661983, 170662087], [170662174, 170662349], [170663294, 170663402], [170663480, 170663540]]	[[170662070, 170662087], [170662174, 170662349], [170663294, 170663402], [170663480, 170663540]]
ENST00000461708	[[170655389, 170655486], [170657461, 170657536], [170661983, 170662087], [170662174, 170662517]]	None
ENST00000409333	[[170655788, 170656026], [170657461, 170657536], [170661983, 170662087], [170662174, 170662349], [170663294, 170663402], [170663480, 170663581], [170664991, 170665063], [170665369, 170665412], [170666792, 170666933], [170667367, 170667554], [170667692, 170667833], [170668177, 170668574]]	[[170657470, 170657536], [170661983, 170662087], [170662174, 170662349], [170663294, 170663402], [170663480, 170663581], [170664991, 170665063], [170665369, 170665412], [170666792, 170666933], [170667367, 170667554], [170667692, 170667833], [170668177, 170668266]]
ENST00000468600	[[170662253, 170662349], [170663294, 170663488]]	None
ENST00000474273	[[170663090, 170663581], [170664991, 170665063], [170665369, 170665412], [170666792, 170666921]]	None
ENST00000465871	[[170663345, 170663581], [170664991, 170665176]]	None
ENST00000470621	[[170664986, 170665063], [170665369, 170665412], [170666792, 170667112]]	None
ENST00000490914	[[170664986, 170665412], [170666792, 170666933], [170667367, 170667554]]	None
ENST00000494051	[[170666572, 170666933], [170667367, 170667398]]	None
NM_003142	[[170655321, 170655486], [170657461, 170657536], [170661983, 170662087], [170662174, 170662349], [170663294, 170663402], [170663480, 170663581], [170664991, 170665063], [170665369, 170665412], [170666792, 170666933], [170667367, 170667554], [170667692, 170667833], [170668177, 170668574]]	[[170657470, 170657536], [170661983, 170662087], [170662174, 170662349], [170663294, 170663402], [170663480, 170663581], [170664991, 170665063], [170665369, 170665412], [170666792, 170666933], [170667367, 170667554], [170667692, 170667833], [170668177, 170668266]]
NM_001294145	[[170655537, 170656026], [170657461, 170657536], [170661983, 170662087], [170662174, 170662349], [170663294, 170663402], [170663480, 170663581], [170664991, 170665063], [170665369, 170665412], [170666792, 170666933], [170667367, 170667554], [170667692, 170667833], [170668177, 170668574]]	[[170657470, 170657536], [170661983, 170662087], [170662174, 170662349], [170663294, 170663402], [170663480, 170663581], [170664991, 170665063], [170665369, 170665412], [170666792, 170666933], [170667367, 170667554], [170667692, 170667833], [170668177, 170668266]]

Promoter

Chrom	Start	End	Description
chr2	170655351	170655405	CAGE_peak_1_at_SSB_5end
chr2	170655408	170655416	CAGE_peak_3_at_SSB_5end
chr2	170655418	170655430	CAGE_peak_2_at_SSB_5end
chr2	170655809	170655813	CAGE_peak_4_at_SSB_5end
chr2	170661993	170662016	CAGE_peak_6_at_SSB_5end
chr2	170664937	170664947	CAGE_peak_13_at_SSB_5end
chr2	170665139	170665155	CAGE_peak_5_at_SSB_5end
chr2	170665157	170665172	CAGE_peak_8_at_SSB_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I169583	169583720	169586581	2.3	[{'connected_gene': 'PPIG', 'score': 561.2}, {'connected_gene': 'GC02M169582', 'score': 550.77}, {'connected_gene': 'PHOSPHO2', 'score': 17.09}, {'connected_gene': 'FASTKD1', 'score': 15.88}, {'connected_gene': 'CCDC173', 'score': 15.67}, {'connected_gene': 'SSB', 'score': 5.45}, {'connected_gene': 'GC02P169639', 'score': 0.23}]
chr2	GH02I169010	169010629	169013562	1.44	[{'connected_gene': 'ABCB11', 'score': 12.31}, {'connected_gene': 'SSB', 'score': 11.01}, {'connected_gene': 'ENSG00000235321', 'score': 10.8}, {'connected_gene': 'SPC25', 'score': 0.15}]
chr2	GH02I169682	169682510	169684235	0.92	[{'connected_gene': 'FASTKD1', 'score': 17.17}, {'connected_gene': 'PHOSPHO2', 'score': 11.6}, {'connected_gene': 'CYB5AP2', 'score': 11.12}, {'connected_gene': 'SSB', 'score': 11.12}, {'connected_gene': 'GC02M169688', 'score': 0.44}, {'connected_gene': 'CCDC173', 'score': 0.39}, {'connected_gene': 'LOC100421474', 'score': 0.34}]
chr2	GH02I169761	169761031	169762796	0.87	[{'connected_gene': 'SSB', 'score': 12.38}, {'connected_gene': 'PPIG', 'score': 11.35}, {'connected_gene': 'CCDC173', 'score': 9.83}, {'connected_gene': 'KLHL23', 'score': 9.68}, {'connected_gene': 'PHOSPHO2', 'score': 5.87}, {'connected_gene': 'LOC171417', 'score': 0.77}, {'connected_gene': 'GC02P169749', 'score': 0.39}]
chr2	GH02I169818	169818747	169819687	0.38	[{'connected_gene': 'SSB', 'score': 7.74}, {'connected_gene': 'PHOSPHO2', 'score': 5.77}, {'connected_gene': 'UBR3', 'score': 4.68}, {'connected_gene': 'METTL5', 'score': 0.44}, {'connected_gene': 'GC02P169805', 'score': 0.39}]
chr2	GH02I169798	169798024	169800805	2.02	[{'connected_gene': 'SSB', 'score': 557.86}, {'connected_gene': 'UBR3', 'score': 11.98}, {'connected_gene': 'METTL5', 'score': 11.98}, {'connected_gene': 'PHOSPHO2', 'score': 7.11}, {'connected_gene': 'GC02P169805', 'score': 0.44}]
chr2	GH02I170005	170005831	170005980	0.75	[{'connected_gene': 'SSB', 'score': 5.83}, {'connected_gene': 'GC02P169970', 'score': 0.28}, {'connected_gene': 'LOC100421689', 'score': 0.19}, {'connected_gene': 'UBR3', 'score': 0.1}]
chr2	GH02I169709	169709498	169713599	0.92	[{'connected_gene': 'PHOSPHO2', 'score': 29.65}, {'connected_gene': 'PPIG', 'score': 20.12}, {'connected_gene': 'SSB', 'score': 16.07}, {'connected_gene': 'CCDC173', 'score': 15.9}, {'connected_gene': 'CYB5AP2', 'score': 10.89}, {'connected_gene': 'METTL5', 'score': 10.72}, {'connected_gene': 'UBR3', 'score': 10.71}, {'connected_gene': 'GC02P169728', 'score': 0.37}, {'connected_gene': 'KLHL23', 'score': 0.37}, {'connected_gene': 'PHOSPHO2-KLHL23', 'score': 0.37}]
chr2	GH02I169703	169703477	169706721	0.54	[{'connected_gene': 'PHOSPHO2', 'score': 19.08}, {'connected_gene': 'CCDC173', 'score': 16.1}, {'connected_gene': 'SSB', 'score': 15.57}, {'connected_gene': 'CYB5AP2', 'score': 10.38}, {'connected_gene': 'PHOSPHO2-KLHL23', 'score': 0.39}, {'connected_gene': 'KLHL23', 'score': 0.39}, {'connected_gene': 'GC02P169728', 'score': 0.34}]
chr2	GH02I169693	169693439	169696187	2.07	[{'connected_gene': 'PHOSPHO2', 'score': 568.83}, {'connected_gene': 'CCDC173', 'score': 566.82}, {'connected_gene': 'PHOSPHO2-KLHL23', 'score': 550.77}, {'connected_gene': 'KLHL23', 'score': 550.77}, {'connected_gene': 'FASTKD1', 'score': 17.17}, {'connected_gene': 'SSB', 'score': 5.59}, {'connected_gene': 'GC02P169728', 'score': 0.29}]
chr2	GH02I169363	169363284	169365400	1.56	[{'connected_gene': 'LRP2', 'score': 552.71}, {'connected_gene': 'PPIG', 'score': 25.28}, {'connected_gene': 'PHOSPHO2', 'score': 11.26}, {'connected_gene': 'SSB', 'score': 11.03}, {'connected_gene': 'GC02M169338', 'score': 0.39}]
chr2	GH02I169822	169822676	169825881	2.06	[{'connected_gene': 'METTL5', 'score': 558.61}, {'connected_gene': 'SSB', 'score': 7.72}, {'connected_gene': 'PHOSPHO2', 'score': 7.09}, {'connected_gene': 'UBR3', 'score': 6.07}, {'connected_gene': 'LOC100421689', 'score': 4.71}, {'connected_gene': 'GC02P169805', 'score': 0.37}]
chr2	GH02I169732	169732894	169735001	1.95	[{'connected_gene': 'KLHL23', 'score': 550.28}, {'connected_gene': 'SSB', 'score': 16.23}, {'connected_gene': 'CYB5AP2', 'score': 11.04}, {'connected_gene': 'CCDC173', 'score': 9.56}, {'connected_gene': 'PHOSPHO2', 'score': 7.5}, {'connected_gene': 'GC02M169725', 'score': 0.77}, {'connected_gene': 'GC02P169749', 'score': 0.37}, {'connected_gene': 'PHOSPHO2-KLHL23', 'score': 0.28}]
chr2	GH02I170084	170084419	170086995	1.05	[{'connected_gene': 'MYO3B', 'score': 10.0}, {'connected_gene': 'METTL5', 'score': 8.32}, {'connected_gene': 'UBR3', 'score': 7.58}, {'connected_gene': 'KLHL23', 'score': 6.01}, {'connected_gene': 'SSB', 'score': 5.67}, {'connected_gene': 'LOC100421689', 'score': 0.44}, {'connected_gene': 'RNU6-1006P', 'score': 0.29}]
chr2	GH02I170001	170001983	170002831	0.2	[{'connected_gene': 'UBR3', 'score': 5.38}, {'connected_gene': 'SSB', 'score': 4.84}, {'connected_gene': 'GC02P169970', 'score': 0.29}, {'connected_gene': 'LOC100421689', 'score': 0.18}]
chr2	GH02I169736	169736601	169737200	0.7	[{'connected_gene': 'CCDC173', 'score': 13.46}, {'connected_gene': 'CYB5AP2', 'score': 11.05}, {'connected_gene': 'SSB', 'score': 11.04}, {'connected_gene': 'UBR3', 'score': 4.91}, {'connected_gene': 'GC02M169725', 'score': 0.44}, {'connected_gene': 'GC02P169749', 'score': 0.39}, {'connected_gene': 'KLHL23', 'score': 0.26}, {'connected_gene': 'PHOSPHO2-KLHL23', 'score': 0.26}]
chr2	GH02I169789	169789791	169790201	1.38	[{'connected_gene': 'CYB5AP2', 'score': 550.77}, {'connected_gene': 'SSB', 'score': 550.77}, {'connected_gene': 'GC02P169777', 'score': 0.39}]
chr2	GH02I169341	169341334	169352753	0.78	[{'connected_gene': 'ENSG00000235321', 'score': 10.17}, {'connected_gene': 'SSB', 'score': 5.28}, {'connected_gene': 'KLHL23', 'score': 5.12}, {'connected_gene': 'LRP2', 'score': 0.37}, {'connected_gene': 'GC02P169326', 'score': 0.34}, {'connected_gene': 'GC02M169338', 'score': 0.31}]
chr2	GH02I169528	169528331	169528500	0.97	[{'connected_gene': 'GC02M169527', 'score': 550.77}, {'connected_gene': 'GC02M169526', 'score': 550.77}, {'connected_gene': 'CYB5AP2', 'score': 11.41}, {'connected_gene': 'SSB', 'score': 11.41}, {'connected_gene': 'UBR3', 'score': 10.47}, {'connected_gene': 'METTL5', 'score': 10.47}, {'connected_gene': 'FASTKD1', 'score': 5.81}]