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
ENST00000281043	[[16080685, 16080865], [16082069, 16082976], [16085614, 16087129]]	[[16082186, 16082976], [16085614, 16086219]]
NM_001293231	[[16080559, 16080865], [16085614, 16087129]]	[[16080708, 16080865], [16085614, 16086219]]
NM_001293233	[[16080559, 16080865], [16082069, 16082976], [16085614, 16087129]]	[[16080708, 16080865], [16082069, 16082251]]
NM_005378	[[16080559, 16080865], [16082069, 16082976], [16085614, 16087129]]	[[16082186, 16082976], [16085614, 16086219]]
NM_001293228	[[16080559, 16081175], [16082069, 16082976], [16085614, 16087129]]	[[16082186, 16082976], [16085614, 16086219]]

Promoter

Chrom	Start	End	Description
chr2	16080165	16080175	CAGE_peak_15_at_MYCN_5end
chr2	16080325	16080331	CAGE_peak_17_at_MYCN_5end
chr2	16080357	16080363	CAGE_peak_18_at_MYCN_5end
chr2	16080635	16080650	CAGE_peak_4_at_MYCN_5end
chr2	16080659	16080685	CAGE_peak_1_at_MYCN_5end
chr2	16080823	16080836	CAGE_peak_5_at_MYCN_5end
chr2	16081024	16081034	CAGE_peak_10_at_MYCN_5end
chr2	16081912	16081931	CAGE_peak_2_at_MYCN_5end
chr2	16082094	16082106	CAGE_peak_7_at_MYCN_5end
chr2	16082155	16082169	CAGE_peak_3_at_MYCN_5end
chr2	16082384	16082391	CAGE_peak_9_at_MYCN_5end
chr2	16082395	16082415	CAGE_peak_6_at_MYCN_5end
chr2	16082418	16082429	CAGE_peak_8_at_MYCN_5end
chr2	16082486	16082491	CAGE_peak_13_at_MYCN_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I015984	15984381	15984519	0.41	[{'connected_gene': 'NBAS', 'score': 16.67}, {'connected_gene': 'MYCN', 'score': 14.26}, {'connected_gene': 'RN7SL104P', 'score': 11.67}, {'connected_gene': 'MYCNOS', 'score': 11.64}, {'connected_gene': 'DDX1', 'score': 2.12}, {'connected_gene': 'GACAT3', 'score': 0.2}]
chr2	GH02I015888	15888041	15891900	0.83	[{'connected_gene': 'NBAS', 'score': 22.86}, {'connected_gene': 'DDX1', 'score': 4.18}, {'connected_gene': 'MYCN', 'score': 1.72}, {'connected_gene': 'GC02P015895', 'score': 0.44}, {'connected_gene': 'GC02P015869', 'score': 0.34}]
chr2	GH02I015874	15874336	15877444	0.78	[{'connected_gene': 'NBAS', 'score': 11.2}, {'connected_gene': 'DDX1', 'score': 1.72}, {'connected_gene': 'MYCN', 'score': 1.55}, {'connected_gene': 'GC02P015869', 'score': 0.44}, {'connected_gene': 'GC02P015895', 'score': 0.37}]
chr2	GH02I015594	15594167	15594276	0.33	[{'connected_gene': 'NBAS', 'score': 30.28}, {'connected_gene': 'DDX1', 'score': 11.44}, {'connected_gene': 'MYCN', 'score': 2.76}, {'connected_gene': 'GC02P015590', 'score': 0.77}, {'connected_gene': 'ENSG00000224194', 'score': 0.17}]
chr2	GH02I015983	15983565	15984146	0.4	[{'connected_gene': 'MYCN', 'score': 13.7}, {'connected_gene': 'RN7SL104P', 'score': 11.67}, {'connected_gene': 'MYCNOS', 'score': 11.64}, {'connected_gene': 'NBAS', 'score': 5.58}, {'connected_gene': 'DDX1', 'score': 1.34}, {'connected_gene': 'GACAT3', 'score': 0.2}]
chr2	GH02I015982	15982331	15983078	0.49	[{'connected_gene': 'MYCN', 'score': 48.36}, {'connected_gene': 'RN7SL104P', 'score': 11.67}, {'connected_gene': 'MYCNOS', 'score': 11.64}, {'connected_gene': 'NBAS', 'score': 2.85}, {'connected_gene': 'GACAT3', 'score': 0.2}]
chr2	GH02I015938	15938202	15944800	2.45	[{'connected_gene': 'MYCN', 'score': 557.46}, {'connected_gene': 'MYCNOS', 'score': 550.77}, {'connected_gene': 'GC02P015940', 'score': 550.77}, {'connected_gene': 'GC02P015941', 'score': 550.77}, {'connected_gene': 'DDX1', 'score': 12.54}, {'connected_gene': 'NBAS', 'score': 10.81}]
chr2	GH02I016311	16311826	16312169	0.45	[{'connected_gene': 'MYCN', 'score': 1.95}, {'connected_gene': 'ENSG00000232444', 'score': 0.44}, {'connected_gene': 'GC02M015984', 'score': 0.39}]
chr2	GH02I015643	15643865	15644254	0.36	[{'connected_gene': 'DDX1', 'score': 22.49}, {'connected_gene': 'NBAS', 'score': 21.05}, {'connected_gene': 'MYCN', 'score': 2.05}, {'connected_gene': 'ENSG00000224194', 'score': 0.28}]
chr2	GH02I015989	15989719	15991718	0.49	[{'connected_gene': 'RN7SL104P', 'score': 10.57}, {'connected_gene': 'MYCNOS', 'score': 10.54}, {'connected_gene': 'MYCN', 'score': 10.53}, {'connected_gene': 'GACAT3', 'score': 0.22}, {'connected_gene': 'GC02M015984', 'score': 0.06}]
chr2	GH02I015979	15979830	15981360	0.57	[{'connected_gene': 'RN7SL104P', 'score': 10.91}, {'connected_gene': 'MYCNOS', 'score': 10.87}, {'connected_gene': 'MYCN', 'score': 10.86}, {'connected_gene': 'GACAT3', 'score': 0.2}]
chr2	GH02I015911	15911703	15913111	1.15	[{'connected_gene': 'MYCNOS', 'score': 12.01}, {'connected_gene': 'MYCN', 'score': 12.01}, {'connected_gene': 'RN7SL104P', 'score': 11.97}, {'connected_gene': 'NBAS', 'score': 9.59}, {'connected_gene': 'ENSG00000238371', 'score': 0.44}, {'connected_gene': 'MYCNUT', 'score': 0.44}]
chr2	GH02I015964	15964919	15965848	0.78	[{'connected_gene': 'MYCNOS', 'score': 11.88}, {'connected_gene': 'MYCN', 'score': 11.88}, {'connected_gene': 'RN7SL104P', 'score': 0.39}, {'connected_gene': 'GACAT3', 'score': 0.17}]
chr2	GH02I015915	15914268	15915231	0.2	[{'connected_gene': 'MYCNOS', 'score': 12.01}, {'connected_gene': 'MYCN', 'score': 12.01}, {'connected_gene': 'RN7SL104P', 'score': 11.97}, {'connected_gene': 'MYCNUT', 'score': 0.44}, {'connected_gene': 'ENSG00000238371', 'score': 0.39}, {'connected_gene': 'GC02M015913', 'score': 0.39}]
chr2	GH02I015914	15914206	15914229	0.2	[{'connected_gene': 'MYCNOS', 'score': 12.01}, {'connected_gene': 'MYCN', 'score': 12.01}, {'connected_gene': 'RN7SL104P', 'score': 11.97}, {'connected_gene': 'MYCNUT', 'score': 0.44}, {'connected_gene': 'ENSG00000238371', 'score': 0.39}, {'connected_gene': 'GC02M015913', 'score': 0.39}]
chr2	GH02I015945	15945414	15946515	0.2	[{'connected_gene': 'MYCNOS', 'score': 0.77}, {'connected_gene': 'MYCN', 'score': 0.44}, {'connected_gene': 'RN7SL104P', 'score': 0.44}]
chr2	GH02I015946	15946534	15946829	0.4	[{'connected_gene': 'MYCNOS', 'score': 0.77}, {'connected_gene': 'RN7SL104P', 'score': 0.77}, {'connected_gene': 'MYCN', 'score': 0.44}]
chr2	GH02I016223	16223061	16224004	0.42	[{'connected_gene': 'ENSG00000228876', 'score': 550.77}, {'connected_gene': 'MYCN', 'score': 28.86}, {'connected_gene': 'ENSG00000226041', 'score': 12.03}, {'connected_gene': 'ENSG00000251704', 'score': 12.03}, {'connected_gene': 'LOC105373443', 'score': 0.37}, {'connected_gene': 'GC02M015984', 'score': 0.18}]
chr2	GH02I016155	16155848	16155952	0.22	[{'connected_gene': 'ENSG00000251704', 'score': 12.05}, {'connected_gene': 'ENSG00000226041', 'score': 12.04}, {'connected_gene': 'MYCN', 'score': 6.88}, {'connected_gene': 'ENSG00000271315', 'score': 0.44}, {'connected_gene': 'GC02M015984', 'score': 0.11}]
chr2	GH02I016037	16037058	16039547	0.38	[{'connected_gene': 'ENSG00000226041', 'score': 10.62}, {'connected_gene': 'ENSG00000251704', 'score': 10.62}, {'connected_gene': 'RN7SL104P', 'score': 10.47}, {'connected_gene': 'MYCNOS', 'score': 10.45}, {'connected_gene': 'MYCN', 'score': 10.45}, {'connected_gene': 'GACAT3', 'score': 0.39}, {'connected_gene': 'ENSG00000226764', 'score': 0.34}, {'connected_gene': 'GC02M015984', 'score': 0.07}]
chr2	GH02I016238	16238441	16239565	0.42	[{'connected_gene': 'ENSG00000226041', 'score': 11.31}, {'connected_gene': 'ENSG00000251704', 'score': 11.31}, {'connected_gene': 'RN7SL104P', 'score': 10.61}, {'connected_gene': 'MYCNOS', 'score': 10.6}, {'connected_gene': 'MYCN', 'score': 10.6}, {'connected_gene': 'ENSG00000231266', 'score': 0.39}, {'connected_gene': 'GC02P016259', 'score': 0.34}, {'connected_gene': 'GC02M015984', 'score': 0.21}]
chr2	GH02I015927	15927679	15928128	0.42	[{'connected_gene': 'GC02M015913', 'score': 550.77}, {'connected_gene': 'MYCNUT', 'score': 0.44}, {'connected_gene': 'MYCNOS', 'score': 0.39}, {'connected_gene': 'MYCN', 'score': 0.39}]