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

Promoter

Chrom	Start	End	Description
chr1	68659896	68659920	CAGE_peak_3_at_WLS_5end
chr1	68698197	68698214	CAGE_peak_1_at_WLS_5end
chr1	68698222	68698245	CAGE_peak_2_at_WLS_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I068172	68172634	68180246	1.5	[{'connected_gene': 'WLS', 'score': 9.2}, {'connected_gene': 'RPE65', 'score': 8.96}, {'connected_gene': 'IL12RB2', 'score': 5.17}, {'connected_gene': 'MIR1262', 'score': 0.44}, {'connected_gene': 'CTBP2P8', 'score': 0.39}, {'connected_gene': 'GNG12-AS1', 'score': 0.05}]
chr1	GH01I068383	68383189	68386141	1.37	[{'connected_gene': 'WLS', 'score': 9.06}, {'connected_gene': 'ENSG00000229440', 'score': 0.77}, {'connected_gene': 'RPE65', 'score': 0.2}]
chr1	GH01I068196	68196628	68200027	1.23	[{'connected_gene': 'WLS', 'score': 12.09}, {'connected_gene': 'GNG12-AS1', 'score': 11.37}, {'connected_gene': 'GC01P068189', 'score': 0.44}, {'connected_gene': 'GC01P068203', 'score': 0.44}]
chr1	GH01I068276	68276050	68277138	0.54	[{'connected_gene': 'WLS', 'score': 6.0}, {'connected_gene': 'COX6B1P7', 'score': 0.44}, {'connected_gene': 'RPS7P4', 'score': 0.29}]
chr1	GH01I068269	68269601	68270000	0.76	[{'connected_gene': 'WLS', 'score': 8.56}, {'connected_gene': 'COX6B1P7', 'score': 0.39}, {'connected_gene': 'RPS7P4', 'score': 0.31}]
chr1	GH01I068377	68377974	68379442	0.54	[{'connected_gene': 'WLS', 'score': 9.08}, {'connected_gene': 'ELOCP18', 'score': 0.77}, {'connected_gene': 'ENSG00000229440', 'score': 0.77}]
chr1	GH01I068228	68228935	68233391	2.09	[{'connected_gene': 'WLS', 'score': 556.55}, {'connected_gene': 'GC01P068203', 'score': 0.31}]
chr1	GH01I068116	68116801	68117200	0.68	[{'connected_gene': 'RPE65', 'score': 11.08}, {'connected_gene': 'GC01M068050', 'score': 0.28}, {'connected_gene': 'CTBP2P8', 'score': 0.25}, {'connected_gene': 'WLS', 'score': 0.13}, {'connected_gene': 'GNG12-AS1', 'score': 0.06}]
chr1	GH01I068119	68119798	68122331	0.87	[{'connected_gene': 'RPE65', 'score': 11.08}, {'connected_gene': 'GC01M068050', 'score': 0.26}, {'connected_gene': 'CTBP2P8', 'score': 0.26}, {'connected_gene': 'WLS', 'score': 0.14}, {'connected_gene': 'GNG12-AS1', 'score': 0.06}]
chr1	GH01I068111	68111433	68113727	0.91	[{'connected_gene': 'RPE65', 'score': 10.15}, {'connected_gene': 'GNG12-AS1', 'score': 10.1}, {'connected_gene': 'GNG12', 'score': 10.1}, {'connected_gene': 'GC01M068050', 'score': 0.29}, {'connected_gene': 'CTBP2P8', 'score': 0.23}, {'connected_gene': 'WLS', 'score': 0.13}]
chr1	GH01I068291	68291533	68295040	1.11	[{'connected_gene': 'LOC105378782', 'score': 550.77}, {'connected_gene': 'MIR1262', 'score': 10.84}, {'connected_gene': 'RPE65', 'score': 9.9}, {'connected_gene': 'WLS', 'score': 6.09}, {'connected_gene': 'COX6B1P7', 'score': 0.39}]
chr1	GH01I068330	68330487	68332307	0.81	[{'connected_gene': 'MIR1262', 'score': 10.59}, {'connected_gene': 'WLS', 'score': 4.58}, {'connected_gene': 'LOC105378782', 'score': 0.28}, {'connected_gene': 'ELOCP18', 'score': 0.26}]
chr1	GH01I068210	68210158	68210307	0.38	[{'connected_gene': 'MIR1262', 'score': 11.22}, {'connected_gene': 'GC01P068203', 'score': 0.44}, {'connected_gene': 'WLS', 'score': 0.34}]
chr1	GH01I068220	68220186	68222852	0.74	[{'connected_gene': 'MIR1262', 'score': 11.1}, {'connected_gene': 'WLS', 'score': 6.22}, {'connected_gene': 'GC01P068203', 'score': 0.37}]
chr1	GH01I068218	68217182	68217307	1.13	[{'connected_gene': 'MIR1262', 'score': 11.5}, {'connected_gene': 'GC01P068203', 'score': 0.39}, {'connected_gene': 'WLS', 'score': 0.37}]
chr1	GH01I068217	68217321	68219371	1.32	[{'connected_gene': 'MIR1262', 'score': 11.5}, {'connected_gene': 'WLS', 'score': 0.39}, {'connected_gene': 'GC01P068203', 'score': 0.39}]
chr1	GH01I068223	68223329	68225061	0.66	[{'connected_gene': 'MIR1262', 'score': 10.64}, {'connected_gene': 'WLS', 'score': 0.44}, {'connected_gene': 'GC01P068203', 'score': 0.34}]
chr1	GH01I068213	68213601	68215339	1.24	[{'connected_gene': 'MIR1262', 'score': 11.53}, {'connected_gene': 'GC01P068203', 'score': 0.39}, {'connected_gene': 'WLS', 'score': 0.37}]
chr1	GH01I068127	68127820	68129613	0.64	[{'connected_gene': 'MIR1262', 'score': 10.71}, {'connected_gene': 'RPE65', 'score': 10.09}, {'connected_gene': 'SERBP1', 'score': 4.42}, {'connected_gene': 'CTBP2P8', 'score': 0.29}, {'connected_gene': 'GC01M068050', 'score': 0.23}, {'connected_gene': 'WLS', 'score': 0.15}, {'connected_gene': 'GNG12-AS1', 'score': 0.06}]
chr1	GH01I068140	68140184	68143481	0.66	[{'connected_gene': 'MIR1262', 'score': 10.72}, {'connected_gene': 'RPE65', 'score': 10.09}, {'connected_gene': 'CTBP2P8', 'score': 4.86}, {'connected_gene': 'GC01M068050', 'score': 0.21}, {'connected_gene': 'WLS', 'score': 0.16}, {'connected_gene': 'GNG12-AS1', 'score': 0.06}]
chr1	GH01I068149	68149518	68149667	0.2	[{'connected_gene': 'MIR1262', 'score': 11.19}, {'connected_gene': 'CTBP2P8', 'score': 0.39}, {'connected_gene': 'GC01M068050', 'score': 0.19}, {'connected_gene': 'WLS', 'score': 0.18}, {'connected_gene': 'GNG12-AS1', 'score': 0.06}]
chr1	GH01I068144	68144865	68146985	0.67	[{'connected_gene': 'MIR1262', 'score': 11.03}, {'connected_gene': 'GNG12-AS1', 'score': 8.71}, {'connected_gene': 'GNG12', 'score': 8.71}, {'connected_gene': 'DEPDC1', 'score': 5.14}, {'connected_gene': 'CTBP2P8', 'score': 0.37}, {'connected_gene': 'GC01M068050', 'score': 0.2}, {'connected_gene': 'WLS', 'score': 0.17}]
chr1	GH01I068201	68201914	68202853	1.02	[{'connected_gene': 'GC01P068203', 'score': 550.77}, {'connected_gene': 'GC01P068189', 'score': 0.39}, {'connected_gene': 'WLS', 'score': 0.29}, {'connected_gene': 'GNG12-AS1', 'score': 0.05}]
chr1	GH01I068204	68204699	68208212	1.06	[{'connected_gene': 'GC01P068203', 'score': 0.77}, {'connected_gene': 'WLS', 'score': 0.31}]
chr1	GH01I068107	68107275	68107544	0.28	[{'connected_gene': 'GC01M068050', 'score': 0.31}, {'connected_gene': 'CTBP2P8', 'score': 0.22}, {'connected_gene': 'WLS', 'score': 0.13}, {'connected_gene': 'GNG12-AS1', 'score': 0.06}]
chr1	GH01I068100	68100829	68102689	0.31	[{'connected_gene': 'GC01M068050', 'score': 0.34}, {'connected_gene': 'CTBP2P8', 'score': 0.21}, {'connected_gene': 'WLS', 'score': 0.12}, {'connected_gene': 'GNG12-AS1', 'score': 0.06}]
chr1	GH01I068103	68103584	68104967	0.38	[{'connected_gene': 'GC01M068050', 'score': 0.31}, {'connected_gene': 'CTBP2P8', 'score': 0.22}, {'connected_gene': 'WLS', 'score': 0.13}, {'connected_gene': 'GNG12-AS1', 'score': 0.06}]
chr1	GH01I068187	68187926	68189273	0.96	[{'connected_gene': 'GC01P068189', 'score': 550.77}, {'connected_gene': 'MIR1262', 'score': 0.77}, {'connected_gene': 'WLS', 'score': 0.26}, {'connected_gene': 'GNG12-AS1', 'score': 0.05}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000540432	[[68564141, 68564436], [68603462, 68603616], [68610251, 68610335], [68611551, 68611695], [68613818, 68613882], [68614245, 68614343], [68615870, 68616039], [68619199, 68619336], [68620781, 68620943], [68624805, 68624930], [68659637, 68659910], [68697876, 68698266]]	[[68564314, 68564436], [68603462, 68603616], [68610251, 68610335], [68611551, 68611695], [68613818, 68613882], [68614245, 68614343], [68615870, 68616039], [68619199, 68619336], [68620781, 68620943], [68624805, 68624930], [68659637, 68659910], [68697876, 68697982]]
ENST00000354777	[[68564155, 68564436], [68603462, 68603616], [68610251, 68610335], [68611551, 68611695], [68613818, 68613882], [68614245, 68614343], [68615870, 68616039], [68619199, 68619336], [68620781, 68620943], [68624805, 68624930], [68659637, 68659904], [68697876, 68698228]]	[[68564314, 68564436], [68603462, 68603616], [68610251, 68610335], [68611551, 68611695], [68613818, 68613882], [68614245, 68614343], [68615870, 68616039], [68619199, 68619336], [68620781, 68620943], [68624805, 68624930], [68659637, 68659904], [68697876, 68697982]]
ENST00000262348	[[68591040, 68592018], [68603462, 68603616], [68610251, 68610335], [68611551, 68611695], [68613818, 68613882], [68614245, 68614343], [68615870, 68616039], [68619199, 68619336], [68620781, 68620943], [68624805, 68624930], [68659637, 68659910], [68697876, 68698236]]	[[68591908, 68592018], [68603462, 68603616], [68610251, 68610335], [68611551, 68611695], [68613818, 68613882], [68614245, 68614343], [68615870, 68616039], [68619199, 68619336], [68620781, 68620943], [68624805, 68624930], [68659637, 68659910], [68697876, 68697982]]
ENST00000370976	[[68591174, 68592018], [68603462, 68603616], [68610251, 68610335], [68611551, 68611695], [68613818, 68613882], [68614245, 68614343], [68615870, 68616039], [68619199, 68619336], [68620781, 68620943], [68624805, 68624930], [68697876, 68698227]]	[[68591908, 68592018], [68603462, 68603616], [68610251, 68610335], [68611551, 68611695], [68613818, 68613882], [68614245, 68614343], [68615870, 68616039], [68619199, 68619336], [68620781, 68620943], [68624805, 68624930], [68697876, 68697982]]
ENST00000534713	[[68615950, 68616039], [68619199, 68619336], [68620781, 68620943], [68624805, 68624930], [68697876, 68697963]]	[[68615950, 68616039], [68619199, 68619336], [68620781, 68620943], [68624805, 68624930], [68697876, 68697963]]
ENST00000533537	[[68619199, 68619336], [68620781, 68620943], [68624805, 68624930], [68697270, 68697370]]	[[68619199, 68619336], [68620781, 68620943], [68624805, 68624910]]
ENST00000530486	[[68619199, 68619336], [68620781, 68620943], [68624805, 68624930], [68659637, 68659910], [68698342, 68698701]]	[[68619199, 68619336], [68620781, 68620943], [68624805, 68624930], [68659637, 68659881]]
ENST00000370973	[[68619236, 68619336], [68620781, 68620943], [68624805, 68624930], [68659637, 68659671], [68698055, 68698206]]	[[68619236, 68619336], [68620781, 68620943], [68624805, 68624910]]
ENST00000471243	[[68620854, 68620943], [68624805, 68624930], [68659637, 68659910], [68698735, 68698803]]	[[68620854, 68620943], [68624805, 68624930], [68659637, 68659881]]
ENST00000491076	[[68620925, 68620943], [68624805, 68624930], [68659637, 68659910], [68693903, 68693938], [68697876, 68698204]]	[[68693927, 68693938], [68697876, 68697982]]
ENST00000527864	[[68624866, 68624930], [68652222, 68652332], [68659637, 68659910], [68697385, 68697508]]	[[68652270, 68652332], [68659637, 68659910], [68697385, 68697508]]
ENST00000370971	[[68659540, 68659910], [68697876, 68698206]]	[[68659632, 68659910], [68697876, 68697982]]
ENST00000498615	[[68591656, 68592018], [68603462, 68603845]]	None
ENST00000491811	[[68608286, 68608545], [68610251, 68610335], [68611551, 68611695], [68613818, 68613882], [68614245, 68614343], [68615870, 68616039], [68619199, 68619336], [68620781, 68620867]]	None
ENST00000497187	[[68614249, 68614343], [68615870, 68616039], [68619199, 68619336], [68620781, 68620943], [68624805, 68624930], [68642000, 68642060]]	None
NM_001002292	[[68564141, 68564436], [68603462, 68603616], [68610251, 68610335], [68611551, 68611695], [68613818, 68613882], [68614245, 68614343], [68615870, 68616039], [68619199, 68619336], [68620781, 68620943], [68624805, 68624930], [68659637, 68659904], [68697876, 68698229]]	[[68564314, 68564436], [68603462, 68603616], [68610251, 68610335], [68611551, 68611695], [68613818, 68613882], [68614245, 68614343], [68615870, 68616039], [68619199, 68619336], [68620781, 68620943], [68624805, 68624930], [68659637, 68659904], [68697876, 68697982]]
NM_001193334	[[68591040, 68592018], [68603462, 68603616], [68610251, 68610335], [68611551, 68611695], [68613818, 68613882], [68614245, 68614343], [68615870, 68616039], [68619199, 68619336], [68620781, 68620943], [68624805, 68624930], [68697876, 68698229]]	[[68591908, 68592018], [68603462, 68603616], [68610251, 68610335], [68611551, 68611695], [68613818, 68613882], [68614245, 68614343], [68615870, 68616039], [68619199, 68619336], [68620781, 68620943], [68624805, 68624930], [68697876, 68697982]]
NM_024911	[[68591040, 68592018], [68603462, 68603616], [68610251, 68610335], [68611551, 68611695], [68613818, 68613882], [68614245, 68614343], [68615870, 68616039], [68619199, 68619336], [68620781, 68620943], [68624805, 68624930], [68659637, 68659910], [68697876, 68698284]]	[[68591908, 68592018], [68603462, 68603616], [68610251, 68610335], [68611551, 68611695], [68613818, 68613882], [68614245, 68614343], [68615870, 68616039], [68619199, 68619336], [68620781, 68620943], [68624805, 68624930], [68659637, 68659910], [68697876, 68697982]]