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
ENST00000422057	[[56379665, 56379707], [56385830, 56388818], [56390278, 56390574], [56393556, 56393764], [56394366, 56394451], [56395751, 56395868], [56434975, 56435098], [56436598, 56436681], [56471467, 56471501], [56535322, 56535483]]	[[56379665, 56379707], [56385830, 56388818], [56390278, 56390574], [56393556, 56393764], [56394366, 56394451], [56395751, 56395868], [56434975, 56435085]]
ENST00000317318	[[56380161, 56380188], [56385830, 56388818], [56390278, 56390574], [56393556, 56393764], [56394366, 56394451], [56395751, 56395868], [56434975, 56435098], [56436598, 56436681], [56471467, 56471501], [56535322, 56535483]]	[[56380161, 56380188], [56385830, 56388818], [56390278, 56390574], [56393556, 56393764], [56394366, 56394451], [56395751, 56395868], [56434975, 56435098], [56436598, 56436681], [56471467, 56471501], [56535322, 56535483]]
ENST00000423270	[[56382731, 56388818], [56390278, 56390574], [56393556, 56393764], [56394366, 56394449], [56395749, 56395868], [56434975, 56435098], [56436598, 56436681], [56471467, 56471501], [56535322, 56535483]]	[[56385542, 56388818], [56390278, 56390574], [56393556, 56393764], [56394366, 56394449], [56395749, 56395868], [56434975, 56435098], [56436598, 56436681], [56471467, 56471501], [56535322, 56535483]]
ENST00000559447	[[56382737, 56388818], [56390278, 56390574], [56393556, 56393764], [56394366, 56394449], [56395749, 56395868], [56434975, 56435098], [56436598, 56436681], [56471467, 56471501], [56535322, 56535464]]	[[56385542, 56388818], [56390278, 56390574], [56393556, 56393764], [56394366, 56394449], [56395749, 56395868], [56434975, 56435085]]
ENST00000559847	[[56379477, 56379707], [56380105, 56380188], [56385830, 56388818], [56390278, 56390574], [56393556, 56393764], [56394366, 56394449], [56395749, 56395868], [56434975, 56435098], [56436598, 56436633]]	[[56380161, 56380188], [56385830, 56388818], [56390278, 56390574], [56393556, 56393764], [56394366, 56394449], [56395749, 56395868], [56434975, 56435085]]
ENST00000560792	[[56395747, 56395868], [56434975, 56435098], [56436598, 56436681], [56452913, 56452945], [56471256, 56471331], [56471467, 56471501], [56482032, 56482084]]	[[56395747, 56395868], [56434975, 56435085]]
NM_022841	[[56382730, 56388818], [56390278, 56390574], [56393556, 56393764], [56394366, 56394451], [56395751, 56395868], [56434975, 56435098], [56436598, 56436681], [56471467, 56471501], [56535322, 56535483]]	[[56385542, 56388818], [56390278, 56390574], [56393556, 56393764], [56394366, 56394451], [56395751, 56395868], [56434975, 56435098], [56436598, 56436681], [56471467, 56471501], [56535322, 56535483]]

Promoter

Chrom	Start	End	Description
chr15	56535468	56535521	CAGE_peak_2_at_RFX7_5end
chr15	56535722	56535764	CAGE_peak_3_at_RFX7_5end
chr15	56535922	56535936	CAGE_peak_5_at_RFX7_5end
chr15	56535946	56535987	CAGE_peak_1_at_RFX7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr15	GH15I055317	55317728	55320776	2.08	[{'connected_gene': 'PIGB', 'score': 606.56}, {'connected_gene': 'PIGBOS1', 'score': 569.61}, {'connected_gene': 'RAB27A', 'score': 550.77}, {'connected_gene': 'RFX7', 'score': 10.77}, {'connected_gene': 'DNAAF4', 'score': 6.55}, {'connected_gene': 'ENSG00000274765', 'score': 0.34}]
chr15	GH15I056537	56537483	56538341	0.79	[{'connected_gene': 'TCF12', 'score': 5.71}, {'connected_gene': 'ZNF280D', 'score': 2.34}, {'connected_gene': 'RFX7', 'score': 1.71}, {'connected_gene': 'LOC105370831', 'score': 0.23}, {'connected_gene': 'LOC105370832', 'score': 0.16}]
chr15	GH15I056917	56917098	56921165	2.31	[{'connected_gene': 'TCF12', 'score': 550.77}, {'connected_gene': 'ZNF280D', 'score': 550.77}, {'connected_gene': 'LOC145783', 'score': 550.77}, {'connected_gene': 'LINC00926', 'score': 14.54}, {'connected_gene': 'RFX7', 'score': 12.38}, {'connected_gene': 'GC15M057429', 'score': 0.44}]
chr15	GH15I056425	56425741	56425924	0.22	[{'connected_gene': 'RFX7', 'score': 2.22}, {'connected_gene': 'MNS1', 'score': 1.9}, {'connected_gene': 'ZNF280D', 'score': 1.4}, {'connected_gene': 'TEX9', 'score': 1.24}, {'connected_gene': 'ENSG00000261823', 'score': 0.37}, {'connected_gene': 'ENSG00000277245', 'score': 0.34}]
chr15	GH15I055996	55996579	56000569	0.87	[{'connected_gene': 'RFX7', 'score': 9.72}, {'connected_gene': 'NEDD4', 'score': 9.14}, {'connected_gene': 'CNOT6LP1', 'score': 8.29}, {'connected_gene': 'PRTG', 'score': 7.18}]
chr15	GH15I056179	56179258	56179317	0.5	[{'connected_gene': 'RFX7', 'score': 560.97}, {'connected_gene': 'LOC390586', 'score': 0.39}, {'connected_gene': 'GC15M057416', 'score': 0.34}, {'connected_gene': 'GC15M057437', 'score': 0.34}, {'connected_gene': 'GC15P056091', 'score': 0.17}]
chr15	GH15I056183	56183147	56183281	0.22	[{'connected_gene': 'RFX7', 'score': 30.59}, {'connected_gene': 'LOC390586', 'score': 0.39}, {'connected_gene': 'GC15M057416', 'score': 0.37}, {'connected_gene': 'GC15M057437', 'score': 0.37}, {'connected_gene': 'GC15P056091', 'score': 0.16}]
chr15	GH15I056160	56160243	56160368	0.22	[{'connected_gene': 'RFX7', 'score': 13.24}, {'connected_gene': 'LOC390586', 'score': 0.29}, {'connected_gene': 'GC15P056091', 'score': 0.2}]
chr15	GH15I056127	56127477	56127845	0.22	[{'connected_gene': 'RFX7', 'score': 7.93}, {'connected_gene': 'TEX9', 'score': 6.39}, {'connected_gene': 'GC15P056091', 'score': 0.28}, {'connected_gene': 'LOC390586', 'score': 0.2}]
chr15	GH15I056240	56240401	56246732	2.5	[{'connected_gene': 'RFX7', 'score': 581.93}, {'connected_gene': 'TEX9', 'score': 560.13}]
chr15	GH15I056207	56207135	56209479	0.79	[{'connected_gene': 'RFX7', 'score': 22.52}, {'connected_gene': 'TEX9', 'score': 9.24}, {'connected_gene': 'GC15M057437', 'score': 0.44}]
chr15	GH15I056215	56215363	56216211	0.64	[{'connected_gene': 'RFX7', 'score': 21.17}, {'connected_gene': 'TEX9', 'score': 9.29}, {'connected_gene': 'GC15M057437', 'score': 0.39}]
chr15	GH15I056205	56205001	56205800	0.2	[{'connected_gene': 'RFX7', 'score': 22.08}, {'connected_gene': 'GC15M057437', 'score': 0.77}]
chr15	GH15I055288	55288097	55291177	2.49	[{'connected_gene': 'RAB27A', 'score': 566.34}, {'connected_gene': 'ENSG00000276533', 'score': 550.77}, {'connected_gene': 'PIGB', 'score': 21.29}, {'connected_gene': 'RFX7', 'score': 10.77}, {'connected_gene': 'PIGBOS1', 'score': 10.69}, {'connected_gene': 'DNAAF4', 'score': 9.22}, {'connected_gene': 'CCPG1', 'score': 2.88}, {'connected_gene': 'PIR62136', 'score': 0.34}]
chr15	GH15I056184	56183652	56183970	0.22	[{'connected_gene': 'MNS1', 'score': 1.63}, {'connected_gene': 'LOC390586', 'score': 0.44}, {'connected_gene': 'GC15M057416', 'score': 0.37}, {'connected_gene': 'GC15M057437', 'score': 0.37}, {'connected_gene': 'RFX7', 'score': 0.22}, {'connected_gene': 'GC15P056091', 'score': 0.16}]
chr15	GH15I056731	56731408	56734492	2.2	[{'connected_gene': 'ZNF280D', 'score': 559.81}, {'connected_gene': 'RFX7', 'score': 12.4}, {'connected_gene': 'TEX9', 'score': 9.81}, {'connected_gene': 'LINC00926', 'score': 9.28}, {'connected_gene': 'ENSG00000274667', 'score': 0.77}, {'connected_gene': 'GC15M057422', 'score': 0.39}]
chr15	GH15I056037	56037742	56044220	1.53	[{'connected_gene': 'ZNF280D', 'score': 48.6}, {'connected_gene': 'RSL24D1', 'score': 23.8}, {'connected_gene': 'TEX9', 'score': 21.36}, {'connected_gene': 'PYGO1', 'score': 21.28}, {'connected_gene': 'PRTG', 'score': 21.17}, {'connected_gene': 'RFX7', 'score': 20.34}, {'connected_gene': 'MNS1', 'score': 19.09}, {'connected_gene': 'TCF12', 'score': 12.6}, {'connected_gene': 'PIGBOS1', 'score': 11.12}, {'connected_gene': 'RN7SL568P', 'score': 0.39}, {'connected_gene': 'CD24P2', 'score': 0.29}]
chr15	GH15I056018	56018003	56018152	0.69	[{'connected_gene': 'NEDD4', 'score': 12.48}, {'connected_gene': 'RFX7', 'score': 9.98}, {'connected_gene': 'CNOT6LP1', 'score': 0.39}, {'connected_gene': 'RN7SL568P', 'score': 0.39}]
chr15	GH15I055969	55969065	55970712	0.49	[{'connected_gene': 'NEDD4', 'score': 18.85}, {'connected_gene': 'PRTG', 'score': 17.85}, {'connected_gene': 'RFX7', 'score': 10.11}, {'connected_gene': 'GC15P055749', 'score': 0.07}]
chr15	GH15I056320	56320523	56320672	0.8	[{'connected_gene': 'TEX9', 'score': 15.52}, {'connected_gene': 'RFX7', 'score': 8.88}, {'connected_gene': 'HMGB1P33', 'score': 0.77}, {'connected_gene': 'RNU6-1287P', 'score': 0.25}, {'connected_gene': 'GC15M056738', 'score': 0.25}]
chr15	GH15I056364	56364747	56366542	2.15	[{'connected_gene': 'TEX9', 'score': 555.19}, {'connected_gene': 'RFX7', 'score': 10.87}, {'connected_gene': 'ENSG00000259941', 'score': 0.29}, {'connected_gene': 'HMGB1P33', 'score': 0.26}]
chr15	GH15I056323	56323150	56323409	0.48	[{'connected_gene': 'HMGB1P33', 'score': 550.77}, {'connected_gene': 'RFX7', 'score': 8.59}, {'connected_gene': 'ENSG00000259941', 'score': 0.19}, {'connected_gene': 'TEX9', 'score': 0.18}]
chr15	GH15I056248	56248236	56249352	0.59	[{'connected_gene': 'ENSG00000275417', 'score': 550.77}, {'connected_gene': 'RFX7', 'score': 24.66}, {'connected_gene': 'TEX9', 'score': 0.77}, {'connected_gene': 'RNU6-1287P', 'score': 0.31}, {'connected_gene': 'GC15M056738', 'score': 0.31}]
chr15	GH15I056091	56091047	56091258	0.4	[{'connected_gene': 'GC15P056091', 'score': 550.77}, {'connected_gene': 'GC15P056072', 'score': 0.37}, {'connected_gene': 'RFX7', 'score': 0.1}]
chr15	GH15I056468	56468031	56469136	0.72	[{'connected_gene': 'GC15P056467', 'score': 550.77}, {'connected_gene': 'RFX7', 'score': 4.13}, {'connected_gene': 'GC15M057433', 'score': 0.39}]