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
ENST00000283351	[[29409135, 29410952], [29412046, 29412136], [29419274, 29419420], [29426678, 29426780], [29429528, 29429702], [29432408, 29432467], [29432557, 29432626], [29433811, 29433908], [29435622, 29435770], [29437502, 29437945], [29444589, 29444744], [29446811, 29446938], [29447364, 29447439], [29450334, 29450465], [29450888, 29451083], [29453392, 29453501], [29454442, 29454667], [29470697, 29470829], [29477748, 29477854], [29480887, 29480988], [29487422, 29487573], [29488265, 29488381], [29488716, 29488973], [29489629, 29489723], [29493331, 29493485], [29496234, 29496409], [29497540, 29497630], [29511291, 29511486], [29522570, 29523063]]	[[29410717, 29410952], [29412046, 29412136], [29419274, 29419420], [29426678, 29426780], [29429528, 29429702], [29432408, 29432467], [29432557, 29432626], [29433811, 29433908], [29435622, 29435770], [29437502, 29437945], [29444589, 29444744], [29446811, 29446938], [29447364, 29447439], [29450334, 29450465], [29450888, 29451083], [29453392, 29453501], [29454442, 29454667], [29470697, 29470829], [29477748, 29477854], [29480887, 29480988], [29487422, 29487573], [29488265, 29488381], [29488716, 29488973], [29489629, 29489723], [29493331, 29493485], [29496234, 29496409], [29497540, 29497630], [29511291, 29511486], [29522570, 29522727]]
ENST00000580104	[[29409900, 29410952], [29412046, 29412136], [29419274, 29419420], [29426678, 29426780], [29429528, 29429702], [29432408, 29432467], [29432557, 29432626], [29433811, 29433908], [29435622, 29435770], [29437502, 29437683], [29444589, 29444744], [29446811, 29446938], [29447364, 29447439], [29450334, 29450465], [29450888, 29451083], [29453392, 29453501], [29454442, 29454667], [29470697, 29470829], [29477748, 29477854], [29480887, 29480988], [29487422, 29487573], [29488265, 29488381], [29488716, 29488973], [29489629, 29489723], [29493331, 29493485], [29496234, 29496409], [29497540, 29497630], [29511291, 29511486], [29522570, 29522856], [29523077, 29523099]]	[[29437647, 29437683], [29444589, 29444744], [29446811, 29446938], [29447364, 29447439], [29450334, 29450465], [29450888, 29451083], [29453392, 29453501], [29454442, 29454667], [29470697, 29470829], [29477748, 29477854], [29480887, 29480988], [29487422, 29487573], [29488265, 29488381], [29488716, 29488973], [29489629, 29489723], [29493331, 29493485], [29496234, 29496409], [29497540, 29497630], [29511291, 29511486], [29522570, 29522727]]
ENST00000582539	[[29410552, 29410952], [29412046, 29412136], [29419274, 29419420], [29426678, 29426780], [29429528, 29429702], [29432408, 29432467], [29432557, 29432626], [29433811, 29433908], [29435622, 29435770], [29437502, 29437945], [29444589, 29444744], [29446811, 29446938], [29447364, 29447439], [29450334, 29450465], [29450888, 29451083], [29453392, 29453501], [29454442, 29454667], [29470697, 29470829], [29477748, 29477854], [29480887, 29480988], [29487422, 29487573], [29488265, 29488381], [29488716, 29488973], [29489629, 29489723], [29493331, 29493485], [29496234, 29496409], [29497540, 29497630], [29511291, 29511486], [29522914, 29522989]]	[[29410717, 29410952], [29412046, 29412136], [29419274, 29419420], [29426678, 29426780], [29429528, 29429702], [29432408, 29432467], [29432557, 29432626], [29433811, 29433908], [29435622, 29435770], [29437502, 29437945], [29444589, 29444744], [29446811, 29446938], [29447364, 29447439], [29450334, 29450465], [29450888, 29451083], [29453392, 29453501], [29454442, 29454667], [29470697, 29470829], [29477748, 29477854], [29480887, 29480988], [29487422, 29487573], [29488265, 29488381], [29488716, 29488973], [29489629, 29489723], [29493331, 29493485], [29496234, 29496409], [29497540, 29497630], [29511291, 29511481]]
ENST00000582513	[[29453532, 29454667], [29470697, 29470829], [29477748, 29477854], [29480887, 29480988], [29487422, 29487573], [29488265, 29488381], [29488716, 29488973], [29489629, 29489723], [29493331, 29493485], [29496234, 29496409], [29497540, 29497630], [29511291, 29511486], [29522570, 29523069]]	[[29454394, 29454667], [29470697, 29470829], [29477748, 29477854], [29480887, 29480988], [29487422, 29487573], [29488265, 29488381], [29488716, 29488973], [29489629, 29489723], [29493331, 29493485], [29496234, 29496409], [29497540, 29497630], [29511291, 29511486], [29522570, 29522727]]
ENST00000582509	[[29410460, 29410952], [29412046, 29412136], [29413238, 29413369]]	None
ENST00000581057	[[29410560, 29410947], [29412046, 29412136], [29419274, 29419423]]	[[29410895, 29410947], [29412046, 29412136], [29419274, 29419423]]
ENST00000584604	[[29410883, 29410952], [29412046, 29412558]]	None
ENST00000578886	[[29426713, 29426780], [29429528, 29429702], [29432408, 29432467], [29432557, 29432835]]	None
ENST00000578252	[[29449976, 29450465], [29450888, 29450986]]	None
ENST00000577474	[[29451028, 29451083], [29453392, 29453501], [29454442, 29454667], [29470697, 29471170]]	[[29451028, 29451083], [29453392, 29453501], [29454442, 29454667], [29470697, 29470772]]
ENST00000578658	[[29493464, 29493485], [29496234, 29496409], [29497540, 29497630], [29511291, 29511486], [29519343, 29519425]]	[[29493464, 29493485], [29496234, 29496409], [29497540, 29497630], [29511291, 29511486], [29519343, 29519425]]
ENST00000584876	[[29506430, 29506568], [29511291, 29511486], [29522570, 29522952]]	None
ENST00000577426	[[29519357, 29519707], [29533012, 29533099]]	None
NM_014939	[[29409135, 29410952], [29412046, 29412136], [29419274, 29419420], [29426678, 29426780], [29429528, 29429702], [29432408, 29432467], [29432557, 29432626], [29433811, 29433908], [29435622, 29435770], [29437502, 29437945], [29444589, 29444744], [29446811, 29446938], [29447364, 29447439], [29450334, 29450465], [29450888, 29451083], [29453392, 29453501], [29454442, 29454667], [29470697, 29470829], [29477748, 29477854], [29480887, 29480988], [29487422, 29487573], [29488265, 29488381], [29488716, 29488973], [29489629, 29489723], [29493331, 29493485], [29496234, 29496409], [29497540, 29497630], [29511291, 29511486], [29522570, 29523091]]	[[29410717, 29410952], [29412046, 29412136], [29419274, 29419420], [29426678, 29426780], [29429528, 29429702], [29432408, 29432467], [29432557, 29432626], [29433811, 29433908], [29435622, 29435770], [29437502, 29437945], [29444589, 29444744], [29446811, 29446938], [29447364, 29447439], [29450334, 29450465], [29450888, 29451083], [29453392, 29453501], [29454442, 29454667], [29470697, 29470829], [29477748, 29477854], [29480887, 29480988], [29487422, 29487573], [29488265, 29488381], [29488716, 29488973], [29489629, 29489723], [29493331, 29493485], [29496234, 29496409], [29497540, 29497630], [29511291, 29511486], [29522570, 29522727]]

Promoter

Chrom	Start	End	Description
chr18	29523050	29523104	CAGE_peak_1_at_TRAPPC8_5end
chr18	29523118	29523134	CAGE_peak_2_at_TRAPPC8_5end
chr18	29523191	29523206	CAGE_peak_3_at_TRAPPC8_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr18	GH18I031610	31610978	31611147	0.62	[{'connected_gene': 'B4GALT6', 'score': 10.99}, {'connected_gene': 'TRAPPC8', 'score': 9.95}, {'connected_gene': 'GC18M031541', 'score': 0.39}, {'connected_gene': 'TTR', 'score': 0.37}]
chr18	GH18I031565	31565709	31567491	0.8	[{'connected_gene': 'TTR', 'score': 12.38}, {'connected_gene': 'B4GALT6', 'score': 11.22}, {'connected_gene': 'SLC25A52', 'score': 10.37}, {'connected_gene': 'TRAPPC8', 'score': 9.62}, {'connected_gene': 'DSG2', 'score': 8.19}, {'connected_gene': 'DSG2-AS1', 'score': 0.44}, {'connected_gene': 'GC18M031541', 'score': 0.22}]
chr18	GH18I032017	32017188	32021117	2.35	[{'connected_gene': 'RNF125', 'score': 574.63}, {'connected_gene': 'ENSG00000263917', 'score': 550.77}, {'connected_gene': 'RNF138', 'score': 11.69}, {'connected_gene': 'TRAPPC8', 'score': 1.49}, {'connected_gene': 'ENSG00000274275', 'score': 0.39}]
chr18	GH18I032039	32039548	32043673	0.74	[{'connected_gene': 'RNF125', 'score': 13.15}, {'connected_gene': 'TRAPPC8', 'score': 11.92}, {'connected_gene': 'RNU6-1050P', 'score': 11.3}, {'connected_gene': 'HMGN2P44', 'score': 0.44}, {'connected_gene': 'GC18M032052', 'score': 0.37}, {'connected_gene': 'ENSG00000263917', 'score': 0.34}]
chr18	GH18I032021	32021517	32023302	0.52	[{'connected_gene': 'RNF138', 'score': 11.14}, {'connected_gene': 'TRAPPC8', 'score': 11.14}, {'connected_gene': 'RNU6-1050P', 'score': 10.81}, {'connected_gene': 'RNF125', 'score': 0.77}, {'connected_gene': 'ENSG00000263917', 'score': 0.77}, {'connected_gene': 'ENSG00000274275', 'score': 0.44}]
chr18	GH18I032066	32066758	32068808	0.49	[{'connected_gene': 'RNF138', 'score': 12.72}, {'connected_gene': 'TRAPPC8', 'score': 12.01}, {'connected_gene': 'RNU6-1050P', 'score': 11.5}, {'connected_gene': 'GC18M032076', 'score': 0.44}, {'connected_gene': 'GC18M032052', 'score': 0.44}, {'connected_gene': 'RNF125', 'score': 0.25}, {'connected_gene': 'ENSG00000263917', 'score': 0.25}]
chr18	GH18I032091	32091078	32095061	2.29	[{'connected_gene': 'RNF138', 'score': 561.27}, {'connected_gene': 'LOC107985133', 'score': 550.77}, {'connected_gene': 'ENSG00000263924', 'score': 34.0}, {'connected_gene': 'ENSG00000263393', 'score': 22.49}, {'connected_gene': 'HNRNPA1P7', 'score': 10.7}, {'connected_gene': 'TRAPPC8', 'score': 10.58}, {'connected_gene': 'RNF125', 'score': 5.26}, {'connected_gene': 'B4GALT6', 'score': 4.98}, {'connected_gene': 'ENSG00000263917', 'score': 0.19}]
chr18	GH18I031586	31586346	31588048	0.78	[{'connected_gene': 'TRAPPC8', 'score': 9.34}, {'connected_gene': 'TTR', 'score': 0.77}, {'connected_gene': 'DSG2-AS1', 'score': 0.29}, {'connected_gene': 'GC18M031541', 'score': 0.28}]
chr18	GH18I032084	32084202	32087600	1.49	[{'connected_gene': 'TRAPPC8', 'score': 13.77}, {'connected_gene': 'RNF138', 'score': 11.95}, {'connected_gene': 'HNRNPA1P7', 'score': 10.06}, {'connected_gene': 'RPS15AP35', 'score': 0.44}, {'connected_gene': 'RNF125', 'score': 0.2}, {'connected_gene': 'ENSG00000263917', 'score': 0.2}]
chr18	GH18I032206	32206967	32210495	0.69	[{'connected_gene': 'TRAPPC8', 'score': 5.82}, {'connected_gene': 'GC18M032197', 'score': 0.44}, {'connected_gene': 'PIR59136', 'score': 0.44}, {'connected_gene': 'MEP1B', 'score': 0.34}, {'connected_gene': 'GAREM1', 'score': 0.07}]
chr18	GH18I031954	31954898	31955047	0.31	[{'connected_gene': 'TRAPPC8', 'score': 550.77}, {'connected_gene': 'SLC25A52', 'score': 4.68}, {'connected_gene': 'GC18P031960', 'score': 0.44}, {'connected_gene': 'GC18P031876', 'score': 0.18}]
chr18	GH18I032072	32072458	32072607	0.46	[{'connected_gene': 'TRAPPC8', 'score': 11.82}, {'connected_gene': 'RNU6-1050P', 'score': 11.44}, {'connected_gene': 'GC18M032076', 'score': 0.77}, {'connected_gene': 'GC18M032052', 'score': 0.39}, {'connected_gene': 'RNF125', 'score': 0.23}, {'connected_gene': 'ENSG00000263917', 'score': 0.23}]
chr18	GH18I031825	31825082	31827949	0.63	[{'connected_gene': 'TRAPPC8', 'score': 26.0}, {'connected_gene': 'RNU6-1050P', 'score': 10.87}, {'connected_gene': 'SLC25A52', 'score': 7.82}, {'connected_gene': 'RNF125', 'score': 4.48}, {'connected_gene': 'ENSG00000263924', 'score': 0.37}]
chr18	GH18I031819	31819106	31819985	0.69	[{'connected_gene': 'TRAPPC8', 'score': 11.38}, {'connected_gene': 'RNU6-1050P', 'score': 10.59}, {'connected_gene': 'ENSG00000263924', 'score': 0.34}, {'connected_gene': 'SLC25A52', 'score': 0.22}]
chr18	GH18I031977	31977358	31977527	0.64	[{'connected_gene': 'TRAPPC8', 'score': 12.58}, {'connected_gene': 'RNU6-1050P', 'score': 11.77}, {'connected_gene': 'ENSG00000280380', 'score': 0.44}, {'connected_gene': 'LOC100287539', 'score': 0.39}]
chr18	GH18I031950	31950138	31951028	0.43	[{'connected_gene': 'TRAPPC8', 'score': 0.77}, {'connected_gene': 'ENSG00000263823', 'score': 0.44}, {'connected_gene': 'GC18P031876', 'score': 0.19}]
chr18	GH18I031955	31954264	31954842	0.81	[{'connected_gene': 'TRAPPC8', 'score': 550.77}, {'connected_gene': 'GC18P031960', 'score': 0.44}, {'connected_gene': 'GC18P031876', 'score': 0.18}]
chr18	GH18I031039	31039135	31043545	1.38	[{'connected_gene': 'DSC3', 'score': 563.79}, {'connected_gene': 'ENSG00000263924', 'score': 13.22}, {'connected_gene': 'DSC2', 'score': 10.83}, {'connected_gene': 'TRAPPC8', 'score': 10.49}, {'connected_gene': 'RNU6-857P', 'score': 0.22}]
chr18	GH18I031956	31956801	31958007	0.97	[{'connected_gene': 'SLC25A52', 'score': 4.86}, {'connected_gene': 'GC18P031960', 'score': 0.77}, {'connected_gene': 'TRAPPC8', 'score': 0.77}, {'connected_gene': 'GC18P031876', 'score': 0.18}]
chr18	GH18I031555	31555978	31556167	0.69	[{'connected_gene': 'DSG2-AS1', 'score': 550.77}, {'connected_gene': 'B4GALT6', 'score': 11.31}, {'connected_gene': 'TRAPPC8', 'score': 10.34}, {'connected_gene': 'ENSG00000266521', 'score': 6.06}, {'connected_gene': 'DSG2', 'score': 0.22}, {'connected_gene': 'GC18M031541', 'score': 0.2}]
chr18	GH18I031984	31984098	31984227	0.31	[{'connected_gene': 'ENSG00000280380', 'score': 550.77}, {'connected_gene': 'RNF125', 'score': 13.01}, {'connected_gene': 'TRAPPC8', 'score': 12.0}, {'connected_gene': 'RNU6-1050P', 'score': 11.2}]
chr18	GH18I031982	31982578	31983447	0.63	[{'connected_gene': 'ENSG00000280380', 'score': 550.77}, {'connected_gene': 'RNF125', 'score': 12.99}, {'connected_gene': 'TRAPPC8', 'score': 12.01}, {'connected_gene': 'RNU6-1050P', 'score': 11.2}]
chr18	GH18I031941	31941510	31944884	2.09	[{'connected_gene': 'ENSG00000263823', 'score': 550.77}, {'connected_gene': 'TRAPPC8', 'score': 550.44}, {'connected_gene': 'ENSG00000263393', 'score': 35.4}, {'connected_gene': 'HNRNPA1P7', 'score': 21.94}, {'connected_gene': 'ENSG00000263924', 'score': 20.87}, {'connected_gene': 'SLC25A52', 'score': 5.61}, {'connected_gene': 'GC18P031876', 'score': 0.2}]
chr18	GH18I031945	31945612	31947481	0.46	[{'connected_gene': 'ENSG00000263823', 'score': 0.77}, {'connected_gene': 'TRAPPC8', 'score': 0.44}, {'connected_gene': 'GC18P031876', 'score': 0.2}]