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
ENST00000254942	[[69389463, 69390959], [69391420, 69391464], [69395306, 69395392], [69400709, 69401102], [69402278, 69402385], [69404385, 69404532], [69406171, 69406258], [69418482, 69418613], [69419293, 69419389], [69419495, 69419891]]	[[69390800, 69390959], [69391420, 69391464], [69395306, 69395392], [69400709, 69401102], [69402278, 69402385], [69404385, 69404532], [69406171, 69406258], [69418482, 69418613], [69419293, 69419389], [69419495, 69419874]]
ENST00000603068	[[69389534, 69390959], [69391420, 69391464], [69395306, 69395392], [69400709, 69401102], [69402278, 69402385], [69404385, 69404532], [69406171, 69406258], [69418482, 69418613], [69419293, 69419389], [69419495, 69419873]]	[[69390800, 69390959], [69391420, 69391464], [69395306, 69395392], [69400709, 69401102], [69402278, 69402385], [69404385, 69404532], [69406171, 69406258], [69418482, 69418613], [69419293, 69419389], [69419495, 69419748]]
ENST00000566051	[[69390236, 69390959], [69395306, 69395374]]	[[69390879, 69390959], [69395306, 69395374]]
ENST00000567130	[[69395254, 69395392], [69400709, 69400887]]	None
ENST00000569584	[[69398869, 69401102], [69402278, 69402385], [69404385, 69404532], [69406171, 69406185]]	[[69400636, 69401102], [69402278, 69402385], [69404385, 69404532], [69406171, 69406185]]
ENST00000566750	[[69400837, 69401102], [69402278, 69402385], [69404385, 69404532], [69406171, 69406258], [69418482, 69418613], [69419293, 69419473]]	[[69400837, 69401102], [69402278, 69402385], [69404385, 69404532], [69406171, 69406258], [69418482, 69418613], [69419293, 69419405]]
ENST00000569542	[[69400849, 69401102], [69402278, 69402385], [69418482, 69418553]]	[[69400849, 69401102], [69402278, 69402385], [69418482, 69418553]]
ENST00000566257	[[69400951, 69401102], [69402278, 69402385], [69402489, 69402498], [69404385, 69404532], [69406171, 69406258], [69418482, 69418650]]	[[69400951, 69401102], [69402278, 69402385], [69402489, 69402498], [69404385, 69404532], [69406171, 69406258], [69418482, 69418599]]
ENST00000564982	[[69400983, 69401102], [69402278, 69402498], [69404385, 69404532], [69406171, 69406258]]	[[69402432, 69402498], [69404385, 69404532], [69406171, 69406258]]
ENST00000569611	[[69402410, 69402498], [69404385, 69404532], [69406171, 69406258], [69418482, 69418613], [69419293, 69419389], [69419495, 69419502]]	None
ENST00000567296	[[69404113, 69404532], [69406171, 69406258], [69418482, 69418613], [69419293, 69419389], [69419495, 69419891]]	[[69404343, 69404532], [69406171, 69406258], [69418482, 69418613], [69419293, 69419389], [69419495, 69419874]]
ENST00000569280	[[69404436, 69404532], [69406171, 69406258], [69418482, 69418613], [69419293, 69419389], [69419533, 69419636]]	[[69419310, 69419389], [69419533, 69419636]]
ENST00000567841	[[69406171, 69406258], [69418482, 69418613], [69419293, 69419389], [69434674, 69434779], [69442339, 69442474]]	[[69406171, 69406258], [69418482, 69418613], [69419293, 69419333]]
NM_005652	[[69389463, 69390959], [69391420, 69391464], [69395306, 69395392], [69400709, 69401102], [69402278, 69402385], [69404385, 69404532], [69406171, 69406258], [69418482, 69418613], [69419293, 69419389], [69419495, 69419891]]	[[69390800, 69390959], [69391420, 69391464], [69395306, 69395392], [69400709, 69401102], [69402278, 69402385], [69404385, 69404532], [69406171, 69406258], [69418482, 69418613], [69419293, 69419389], [69419495, 69419874]]

Promoter

Chrom	Start	End	Description
chr16	69419590	69419601	CAGE_peak_5_at_TERF2_5end
chr16	69419724	69419735	CAGE_peak_4_at_TERF2_5end
chr16	69419749	69419786	CAGE_peak_2_at_TERF2_5end
chr16	69419794	69419830	CAGE_peak_3_at_TERF2_5end
chr16	69419871	69419927	CAGE_peak_1_at_TERF2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I069393	69393655	69401031	1.72	[{'connected_gene': 'UTP4', 'score': 19.7}, {'connected_gene': 'CYB5B', 'score': 12.6}, {'connected_gene': 'NIP7', 'score': 12.41}, {'connected_gene': 'NFAT5', 'score': 11.87}, {'connected_gene': 'MIR1538', 'score': 11.87}, {'connected_gene': 'NQO1', 'score': 10.69}, {'connected_gene': 'TERF2', 'score': 1.7}, {'connected_gene': 'GC16M069470', 'score': 0.77}]
chr16	GH16I069422	69422993	69426327	2.29	[{'connected_gene': 'CYB5B', 'score': 556.63}, {'connected_gene': 'GC16M069467', 'score': 550.77}, {'connected_gene': 'GC16M069459', 'score': 550.77}, {'connected_gene': 'DDX19B', 'score': 50.13}, {'connected_gene': 'PDPR', 'score': 49.23}, {'connected_gene': 'NFAT5', 'score': 42.13}, {'connected_gene': 'NONOP1', 'score': 33.13}, {'connected_gene': 'CHTF8', 'score': 33.1}, {'connected_gene': 'ZFP90', 'score': 31.09}, {'connected_gene': 'LOC400541', 'score': 27.49}, {'connected_gene': 'SNTB2', 'score': 22.48}, {'connected_gene': 'PDXDC2P-NPIPB14P', 'score': 19.71}, {'connected_gene': 'UTP4', 'score': 19.5}, {'connected_gene': 'PDXDC2P', 'score': 18.88}, {'connected_gene': 'NPIPB14P', 'score': 18.64}, {'connected_gene': 'DDX19A', 'score': 13.65}, {'connected_gene': 'MIR1538', 'score': 11.85}, {'connected_gene': 'TERF2', 'score': 11.01}, {'connected_gene': 'EXOSC6', 'score': 10.27}, {'connected_gene': 'RPS2P45', 'score': 9.74}, {'connected_gene': 'TMED6', 'score': 6.51}, {'connected_gene': 'CLEC18A', 'score': 4.86}, {'connected_gene': 'CLEC18C', 'score': 4.46}]
chr16	GH16I069384	69384127	69386607	2.26	[{'connected_gene': 'TERF2', 'score': 550.34}, {'connected_gene': 'UTP4', 'score': 19.98}, {'connected_gene': 'NIP7', 'score': 12.3}, {'connected_gene': 'TMED6', 'score': 6.09}, {'connected_gene': 'GC16M069470', 'score': 0.44}, {'connected_gene': 'PIR63038', 'score': 0.34}]
chr16	GH16I069372	69372823	69373760	0.2	[{'connected_gene': 'TERF2', 'score': 13.78}, {'connected_gene': 'TMED6', 'score': 12.43}, {'connected_gene': 'NIP7', 'score': 12.38}, {'connected_gene': 'PIR63038', 'score': 0.44}, {'connected_gene': 'GC16M069470', 'score': 0.37}]
chr16	GH16I069402	69402423	69413932	1.74	[{'connected_gene': 'TERF2', 'score': 562.49}, {'connected_gene': 'NFAT5', 'score': 89.2}, {'connected_gene': 'PDPR', 'score': 73.75}, {'connected_gene': 'PDXDC2P-NPIPB14P', 'score': 61.96}, {'connected_gene': 'NONOP1', 'score': 60.65}, {'connected_gene': 'LOC400541', 'score': 59.91}, {'connected_gene': 'PDXDC2P', 'score': 57.12}, {'connected_gene': 'NPIPB14P', 'score': 55.13}, {'connected_gene': 'DDX19A', 'score': 55.06}, {'connected_gene': 'SNTB2', 'score': 37.03}, {'connected_gene': 'CHTF8', 'score': 32.24}, {'connected_gene': 'EXOSC6', 'score': 29.86}, {'connected_gene': 'AARS', 'score': 28.78}, {'connected_gene': 'ZFP90', 'score': 27.94}, {'connected_gene': 'DDX19B', 'score': 26.85}, {'connected_gene': 'LOC100506083', 'score': 26.8}, {'connected_gene': 'UTP4', 'score': 23.68}, {'connected_gene': 'TMED6', 'score': 18.96}, {'connected_gene': 'MIR1538', 'score': 11.19}, {'connected_gene': 'NIP7', 'score': 11.11}, {'connected_gene': 'NQO1', 'score': 10.19}, {'connected_gene': 'NOB1', 'score': 9.72}, {'connected_gene': 'WWP2', 'score': 9.55}, {'connected_gene': 'ENSG00000252443', 'score': 9.55}, {'connected_gene': 'CYB5B', 'score': 6.12}, {'connected_gene': 'CLEC18A', 'score': 4.86}, {'connected_gene': 'CLEC18C', 'score': 4.46}, {'connected_gene': 'SMG1P7', 'score': 4.31}, {'connected_gene': 'GC16M069470', 'score': 0.37}]
chr16	GH16I069387	69387295	69388626	0.38	[{'connected_gene': 'SNTB2', 'score': 9.76}, {'connected_gene': 'GC16M069470', 'score': 0.77}, {'connected_gene': 'TERF2', 'score': 0.34}, {'connected_gene': 'PIR63038', 'score': 0.34}]
chr16	GH16I069367	69367786	69368585	0.71	[{'connected_gene': 'NIP7', 'score': 24.86}, {'connected_gene': 'TERF2', 'score': 12.15}, {'connected_gene': 'SNTB2', 'score': 9.75}, {'connected_gene': 'PIR63038', 'score': 0.77}, {'connected_gene': 'GC16M069470', 'score': 0.34}]
chr16	GH16I069379	69379867	69383125	0.63	[{'connected_gene': 'NIP7', 'score': 23.45}, {'connected_gene': 'TMED6', 'score': 18.69}, {'connected_gene': 'CYB5B', 'score': 11.22}, {'connected_gene': 'WWP2', 'score': 9.62}, {'connected_gene': 'ENSG00000252443', 'score': 9.62}, {'connected_gene': 'GC16M069470', 'score': 0.39}, {'connected_gene': 'PIR63038', 'score': 0.37}, {'connected_gene': 'TERF2', 'score': 0.31}]
chr16	GH16I070287	70287408	70291509	2.29	[{'connected_gene': 'DDX19B', 'score': 597.75}, {'connected_gene': 'AARS', 'score': 550.77}, {'connected_gene': 'PDPR', 'score': 49.62}, {'connected_gene': 'SMG1P7', 'score': 35.91}, {'connected_gene': 'NFAT5', 'score': 34.77}, {'connected_gene': 'NONOP1', 'score': 34.72}, {'connected_gene': 'SF3B3', 'score': 33.84}, {'connected_gene': 'COG4', 'score': 30.25}, {'connected_gene': 'LOC400541', 'score': 27.75}, {'connected_gene': 'DDX19A', 'score': 25.16}, {'connected_gene': 'PDXDC2P-NPIPB14P', 'score': 21.72}, {'connected_gene': 'PDXDC2P', 'score': 20.8}, {'connected_gene': 'EXOSC6', 'score': 19.7}, {'connected_gene': 'LOC100506083', 'score': 12.33}, {'connected_gene': 'NPIPB14P', 'score': 12.06}, {'connected_gene': 'HYDIN', 'score': 11.47}, {'connected_gene': 'TERF2', 'score': 10.67}, {'connected_gene': 'FUK', 'score': 7.33}, {'connected_gene': 'CLEC18C', 'score': 6.45}, {'connected_gene': 'NQO1', 'score': 5.1}, {'connected_gene': 'RN7SL279P', 'score': 0.39}]
chr16	GH16I069522	69522836	69522994	0.79	[{'connected_gene': 'LOC105371325', 'score': 550.77}, {'connected_gene': 'NFAT5', 'score': 15.44}, {'connected_gene': 'PDPR', 'score': 13.69}, {'connected_gene': 'PDXDC2P-NPIPB14P', 'score': 13.48}, {'connected_gene': 'DDX19A', 'score': 13.13}, {'connected_gene': 'NONOP1', 'score': 12.95}, {'connected_gene': 'PDXDC2P', 'score': 12.79}, {'connected_gene': 'NPIPB14P', 'score': 12.05}, {'connected_gene': 'CYB5B', 'score': 11.21}, {'connected_gene': 'LOC400541', 'score': 11.18}, {'connected_gene': 'EXOSC6', 'score': 10.9}, {'connected_gene': 'SNTB2', 'score': 10.86}, {'connected_gene': 'DDX19B', 'score': 10.27}, {'connected_gene': 'HAS3', 'score': 1.53}, {'connected_gene': 'TERF2', 'score': 1.53}, {'connected_gene': 'GC16M069496', 'score': 0.31}]
chr16	GH16I069414	69414969	69415614	0.85	[{'connected_gene': 'GC16P069417', 'score': 0.77}, {'connected_gene': 'TERF2', 'score': 0.44}]
chr16	GH16I069415	69415795	69415797	0.4	[{'connected_gene': 'GC16P069417', 'score': 550.77}, {'connected_gene': 'TERF2', 'score': 0.44}]
chr16	GH16I069356	69356794	69357599	0.2	[{'connected_gene': 'ENSG00000260371', 'score': 550.77}, {'connected_gene': 'PDF', 'score': 12.41}, {'connected_gene': 'WWP2', 'score': 9.43}, {'connected_gene': 'ENSG00000252443', 'score': 9.42}, {'connected_gene': 'PIR63038', 'score': 0.44}, {'connected_gene': 'TERF2', 'score': 0.23}]
chr16	GH16I069390	69390577	69391509	0.2	[{'connected_gene': 'GC16M069470', 'score': 550.77}, {'connected_gene': 'NIP7', 'score': 12.29}, {'connected_gene': 'TERF2', 'score': 0.37}, {'connected_gene': 'PIR63038', 'score': 0.31}]
chr16	GH16I069717	69717225	69717625	0.26	[{'connected_gene': 'GC16M069712', 'score': 550.77}, {'connected_gene': 'NQO1', 'score': 8.78}, {'connected_gene': 'TERF2', 'score': 1.25}, {'connected_gene': 'PDF', 'score': 1.21}, {'connected_gene': 'ENSG00000261602', 'score': 0.44}]