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
ENST00000307078	[[63524680, 63526220], [63530029, 63530197], [63531743, 63531839], [63532437, 63532671], [63532986, 63533181], [63533441, 63533953], [63534320, 63534461], [63537572, 63537675], [63545637, 63545778], [63553923, 63554854], [63557567, 63557765]]	[[63526093, 63526220], [63530029, 63530197], [63531743, 63531839], [63532437, 63532671], [63532986, 63533181], [63533441, 63533953], [63534320, 63534461], [63537572, 63537675], [63545637, 63545778], [63553923, 63554738]]
ENST00000375702	[[63525998, 63526220], [63530029, 63530197], [63531743, 63531839], [63532437, 63532671], [63533441, 63533953], [63534320, 63534461], [63537572, 63537675], [63545637, 63545778], [63553923, 63554847]]	[[63526093, 63526220], [63530029, 63530197], [63531743, 63531839], [63532437, 63532671], [63533441, 63533953], [63534320, 63534461], [63537572, 63537675], [63545637, 63545778], [63553923, 63554738]]
ENST00000578251	[[63530068, 63530197], [63531743, 63531839], [63532437, 63532800]]	None
ENST00000577278	[[63553923, 63554854], [63556630, 63556675]]	[[63553923, 63554738]]
ENST00000580513	[[63554161, 63554854], [63556942, 63557309]]	[[63554161, 63554738]]
ENST00000585045	[[63554163, 63554854], [63556071, 63556414]]	[[63554163, 63554738]]
ENST00000544103	[[63554286, 63554854], [63555561, 63555614]]	[[63554286, 63554738]]
NM_004655	[[63524680, 63526220], [63530029, 63530197], [63531743, 63531839], [63532437, 63532671], [63532986, 63533181], [63533441, 63533953], [63534320, 63534461], [63537572, 63537675], [63545637, 63545778], [63553923, 63554854], [63557567, 63557740]]	[[63526093, 63526220], [63530029, 63530197], [63531743, 63531839], [63532437, 63532671], [63532986, 63533181], [63533441, 63533953], [63534320, 63534461], [63537572, 63537675], [63545637, 63545778], [63553923, 63554738]]

Promoter

Chrom	Start	End	Description
chr17	63556428	63556442	CAGE_peak_1_at_AXIN2_5end
chr17	63556446	63556459	CAGE_peak_3_at_AXIN2_5end
chr17	63556476	63556485	CAGE_peak_5_at_AXIN2_5end
chr17	63557652	63557719	CAGE_peak_2_at_AXIN2_5end
chr17	63557734	63557745	CAGE_peak_6_at_AXIN2_5end
chr17	63557759	63557774	CAGE_peak_4_at_AXIN2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I066451	66451507	66452722	1.33	[{'connected_gene': 'HELZ', 'score': 34.25}, {'connected_gene': 'AXIN2', 'score': 18.88}, {'connected_gene': 'CEP112', 'score': 10.69}, {'connected_gene': 'PRKCA-AS1', 'score': 0.28}, {'connected_gene': 'GC17M066521', 'score': 0.19}, {'connected_gene': 'PRKCA', 'score': 0.11}]
chr17	GH17I064607	64607759	64609262	0.88	[{'connected_gene': 'CEP95', 'score': 151.88}, {'connected_gene': 'DDX42', 'score': 116.47}, {'connected_gene': 'SLC16A6P1', 'score': 83.6}, {'connected_gene': 'FTSJ3', 'score': 81.68}, {'connected_gene': 'POLG2', 'score': 77.49}, {'connected_gene': 'DDX5', 'score': 53.72}, {'connected_gene': 'SMARCD2', 'score': 51.84}, {'connected_gene': 'ENSG00000265982', 'score': 50.63}, {'connected_gene': 'ENSG00000265218', 'score': 47.77}, {'connected_gene': 'PLEKHM1P1', 'score': 43.95}, {'connected_gene': 'ENSG00000281311', 'score': 42.99}, {'connected_gene': 'ENSG00000265912', 'score': 39.29}, {'connected_gene': 'AMZ2P1', 'score': 32.73}, {'connected_gene': 'KPNA2P3', 'score': 19.55}, {'connected_gene': 'SMURF2', 'score': 19.32}, {'connected_gene': 'AXIN2', 'score': 18.88}, {'connected_gene': 'LRRC37A3', 'score': 18.08}, {'connected_gene': 'EEF1DP7', 'score': 12.03}, {'connected_gene': 'MAP3K3', 'score': 11.78}, {'connected_gene': 'ENSG00000264057', 'score': 9.75}, {'connected_gene': 'MILR1', 'score': 6.59}, {'connected_gene': 'GC17P064641', 'score': 0.29}, {'connected_gene': 'ENSG00000271779', 'score': 0.28}]
chr17	GH17I065677	65677871	65680142	0.46	[{'connected_gene': 'AXIN2', 'score': 4.25}, {'connected_gene': 'ENSG00000270870', 'score': 0.34}, {'connected_gene': 'GC17M065717', 'score': 0.26}, {'connected_gene': 'CEP112', 'score': 0.03}]
chr17	GH17I065670	65670266	65671689	0.69	[{'connected_gene': 'AXIN2', 'score': 10.76}, {'connected_gene': 'ENSG00000270870', 'score': 0.37}, {'connected_gene': 'GC17M065717', 'score': 0.23}, {'connected_gene': 'CEP112', 'score': 0.03}]
chr17	GH17I065524	65523503	65523672	0.52	[{'connected_gene': 'AXIN2', 'score': 0.28}, {'connected_gene': 'LINC02563', 'score': 0.2}]
chr17	GH17I065467	65467203	65467352	0.31	[{'connected_gene': 'AXIN2', 'score': 10.9}, {'connected_gene': 'LINC02563', 'score': 0.44}]
chr17	GH17I065541	65541563	65542076	0.38	[{'connected_gene': 'AXIN2', 'score': 0.37}, {'connected_gene': 'LINC02563', 'score': 0.18}, {'connected_gene': 'ENSG00000266076', 'score': 0.15}]
chr17	GH17I065534	65534003	65534152	0.4	[{'connected_gene': 'AXIN2', 'score': 11.95}, {'connected_gene': 'LINC02563', 'score': 0.18}]
chr17	GH17I065550	65550383	65550472	0.51	[{'connected_gene': 'AXIN2', 'score': 0.39}, {'connected_gene': 'LINC02563', 'score': 0.16}, {'connected_gene': 'ENSG00000266076', 'score': 0.16}]
chr17	GH17I065544	65544339	65545522	0.31	[{'connected_gene': 'AXIN2', 'score': 0.37}, {'connected_gene': 'LINC02563', 'score': 0.17}, {'connected_gene': 'ENSG00000266076', 'score': 0.15}]
chr17	GH17I065539	65539261	65539970	0.31	[{'connected_gene': 'AXIN2', 'score': 11.98}, {'connected_gene': 'LINC02563', 'score': 0.18}, {'connected_gene': 'ENSG00000266076', 'score': 0.15}]
chr17	GH17I065525	65523263	65523412	0.46	[{'connected_gene': 'AXIN2', 'score': 0.28}, {'connected_gene': 'LINC02563', 'score': 0.2}]
chr17	GH17I065523	65523759	65524532	0.66	[{'connected_gene': 'AXIN2', 'score': 0.28}, {'connected_gene': 'LINC02563', 'score': 0.2}]
chr17	GH17I065295	65294117	65294132	0.57	[{'connected_gene': 'AXIN2', 'score': 10.7}, {'connected_gene': 'GC17M065237', 'score': 0.22}, {'connected_gene': 'LINC02563', 'score': 0.1}]
chr17	GH17I065545	65545690	65548667	1.2	[{'connected_gene': 'AXIN2', 'score': 0.39}, {'connected_gene': 'LINC02563', 'score': 0.17}, {'connected_gene': 'ENSG00000266076', 'score': 0.16}]
chr17	GH17I065529	65529784	65533739	1.14	[{'connected_gene': 'AXIN2', 'score': 11.95}, {'connected_gene': 'LINC02563', 'score': 0.19}]
chr17	GH17I065537	65537883	65538589	0.84	[{'connected_gene': 'AXIN2', 'score': 11.98}, {'connected_gene': 'LINC02563', 'score': 0.18}, {'connected_gene': 'ENSG00000266076', 'score': 0.15}]
chr17	GH17I065553	65553050	65563109	2.47	[{'connected_gene': 'AXIN2', 'score': 564.37}, {'connected_gene': 'ENSG00000266076', 'score': 0.18}, {'connected_gene': 'LINC02563', 'score': 0.15}]
chr17	GH17I065587	65587173	65589325	1.31	[{'connected_gene': 'AXIN2', 'score': 12.22}, {'connected_gene': 'PIR59324', 'score': 0.31}, {'connected_gene': 'ENSG00000266076', 'score': 0.23}]
chr17	GH17I065563	65563363	65565792	1.22	[{'connected_gene': 'AXIN2', 'score': 17.43}, {'connected_gene': 'ENSG00000265912', 'score': 12.39}, {'connected_gene': 'ENSG00000265218', 'score': 11.19}, {'connected_gene': 'PIR59324', 'score': 0.23}, {'connected_gene': 'ENSG00000266076', 'score': 0.18}]
chr17	GH17I065589	65589423	65589572	0.4	[{'connected_gene': 'AXIN2', 'score': 12.22}, {'connected_gene': 'PIR59324', 'score': 0.31}, {'connected_gene': 'ENSG00000266076', 'score': 0.23}]
chr17	GH17I065578	65578541	65578926	0.2	[{'connected_gene': 'AXIN2', 'score': 0.37}, {'connected_gene': 'PIR59324', 'score': 0.28}, {'connected_gene': 'ENSG00000266076', 'score': 0.21}]
chr17	GH17I065583	65583729	65584480	0.77	[{'connected_gene': 'AXIN2', 'score': 0.34}, {'connected_gene': 'PIR59324', 'score': 0.29}, {'connected_gene': 'ENSG00000266076', 'score': 0.22}]
chr17	GH17I065584	65584603	65584970	0.69	[{'connected_gene': 'AXIN2', 'score': 0.34}, {'connected_gene': 'PIR59324', 'score': 0.29}, {'connected_gene': 'ENSG00000266076', 'score': 0.22}]
chr17	GH17I065586	65585896	65586192	0.2	[{'connected_gene': 'AXIN2', 'score': 0.34}, {'connected_gene': 'PIR59324', 'score': 0.29}, {'connected_gene': 'ENSG00000266076', 'score': 0.23}]
chr17	GH17I065567	65567740	65567892	0.6	[{'connected_gene': 'AXIN2', 'score': 0.44}, {'connected_gene': 'PIR59324', 'score': 0.23}, {'connected_gene': 'ENSG00000266076', 'score': 0.19}]
chr17	GH17I065594	65593343	65593352	0.2	[{'connected_gene': 'AXIN2', 'score': 12.53}, {'connected_gene': 'PIR59324', 'score': 0.34}, {'connected_gene': 'ENSG00000266076', 'score': 0.25}]
chr17	GH17I065572	65572127	65574303	1	[{'connected_gene': 'AXIN2', 'score': 0.39}, {'connected_gene': 'PIR59324', 'score': 0.26}, {'connected_gene': 'ENSG00000266076', 'score': 0.2}]
chr17	GH17I065585	65585535	65585845	0.67	[{'connected_gene': 'AXIN2', 'score': 0.34}, {'connected_gene': 'PIR59324', 'score': 0.29}, {'connected_gene': 'ENSG00000266076', 'score': 0.22}]
chr17	GH17I065575	65575883	65575999	0.22	[{'connected_gene': 'AXIN2', 'score': 0.39}, {'connected_gene': 'PIR59324', 'score': 0.26}, {'connected_gene': 'ENSG00000266076', 'score': 0.2}]
chr17	GH17I065576	65576745	65577649	0.69	[{'connected_gene': 'AXIN2', 'score': 0.37}, {'connected_gene': 'PIR59324', 'score': 0.26}, {'connected_gene': 'ENSG00000266076', 'score': 0.21}]
chr17	GH17I065579	65578969	65579551	0.38	[{'connected_gene': 'AXIN2', 'score': 0.37}, {'connected_gene': 'PIR59324', 'score': 0.28}, {'connected_gene': 'ENSG00000266076', 'score': 0.21}]
chr17	GH17I065593	65593203	65593232	0.2	[{'connected_gene': 'AXIN2', 'score': 12.53}, {'connected_gene': 'PIR59324', 'score': 0.34}, {'connected_gene': 'ENSG00000266076', 'score': 0.25}]
chr17	GH17I065542	65542723	65542872	0.96	[{'connected_gene': 'PLEKHM1P1', 'score': 15.02}, {'connected_gene': 'ENSG00000265982', 'score': 12.59}, {'connected_gene': 'SLC16A6P1', 'score': 12.03}, {'connected_gene': 'AXIN2', 'score': 0.37}, {'connected_gene': 'LINC02563', 'score': 0.17}, {'connected_gene': 'ENSG00000266076', 'score': 0.15}]
chr17	GH17I065515	65515290	65517214	0.85	[{'connected_gene': 'PLEKHM1P1', 'score': 15.02}, {'connected_gene': 'ENSG00000265982', 'score': 12.59}, {'connected_gene': 'SLC16A6P1', 'score': 12.03}, {'connected_gene': 'AXIN2', 'score': 0.25}, {'connected_gene': 'LINC02563', 'score': 0.22}]
chr17	GH17I065543	65543056	65544307	0.57	[{'connected_gene': 'PLEKHM1P1', 'score': 15.02}, {'connected_gene': 'ENSG00000265982', 'score': 12.59}, {'connected_gene': 'SLC16A6P1', 'score': 12.03}, {'connected_gene': 'AXIN2', 'score': 0.37}, {'connected_gene': 'LINC02563', 'score': 0.17}, {'connected_gene': 'ENSG00000266076', 'score': 0.15}]
chr17	GH17I065294	65294243	65294472	0.86	[{'connected_gene': 'DDX5', 'score': 17.02}, {'connected_gene': 'PLEKHM1P1', 'score': 15.04}, {'connected_gene': 'POLG2', 'score': 14.4}, {'connected_gene': 'CEP95', 'score': 13.1}, {'connected_gene': 'ENSG00000265982', 'score': 12.6}, {'connected_gene': 'SLC16A6P1', 'score': 12.05}, {'connected_gene': 'AXIN2', 'score': 10.7}, {'connected_gene': 'GC17M065237', 'score': 0.22}, {'connected_gene': 'LINC02563', 'score': 0.1}]
chr17	GH17I065461	65460283	65460432	0.31	[{'connected_gene': 'LINC02563', 'score': 0.77}, {'connected_gene': 'AXIN2', 'score': 0.15}]
chr17	GH17I065494	65494603	65496012	0.85	[{'connected_gene': 'LINC02563', 'score': 0.28}, {'connected_gene': 'AXIN2', 'score': 0.2}]
chr17	GH17I065463	65463066	65464056	0.43	[{'connected_gene': 'LINC02563', 'score': 0.44}, {'connected_gene': 'AXIN2', 'score': 0.15}]
chr17	GH17I065472	65472529	65473372	0.2	[{'connected_gene': 'LINC02563', 'score': 0.37}, {'connected_gene': 'AXIN2', 'score': 0.17}]
chr17	GH17I065460	65460623	65460772	0.59	[{'connected_gene': 'LINC02563', 'score': 0.77}, {'connected_gene': 'AXIN2', 'score': 0.15}]
chr17	GH17I065514	65514013	65515124	0.71	[{'connected_gene': 'ENSG00000265912', 'score': 16.65}, {'connected_gene': 'AXIN2', 'score': 0.25}, {'connected_gene': 'LINC02563', 'score': 0.22}]
chr17	GH17I065595	65593801	65595537	0.69	[{'connected_gene': 'PIR59324', 'score': 0.34}, {'connected_gene': 'AXIN2', 'score': 0.29}, {'connected_gene': 'ENSG00000266076', 'score': 0.25}]
chr17	GH17I065749	65749969	65751542	1.38	[{'connected_gene': 'ENSG00000265982', 'score': 24.9}, {'connected_gene': 'PLEKHM1P1', 'score': 24.85}, {'connected_gene': 'SLC16A6P1', 'score': 12.03}, {'connected_gene': 'AXIN2', 'score': 3.98}, {'connected_gene': 'CEP112', 'score': 1.57}, {'connected_gene': 'GC17P065726', 'score': 0.34}, {'connected_gene': 'GC17P065784', 'score': 0.29}]