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
ENST00000393271	[[48450580, 48450638], [48452545, 48453344], [48453426, 48453554], [48455955, 48456042], [48456134, 48456256], [48456428, 48456585], [48456812, 48456928], [48457672, 48457862], [48458123, 48458820]]	[[48452569, 48453344], [48453426, 48453554], [48455955, 48456042], [48456134, 48456256], [48456428, 48456585], [48456812, 48456928], [48457672, 48457862], [48458123, 48458300]]
ENST00000338165	[[48450580, 48450638], [48452545, 48453344], [48453426, 48453554], [48455955, 48456042], [48456134, 48456256], [48456467, 48456585], [48456812, 48456928], [48457672, 48457862], [48458123, 48458844]]	[[48452569, 48453344], [48453426, 48453554], [48455955, 48456042], [48456134, 48456256], [48456467, 48456585], [48456812, 48456928], [48457672, 48457862], [48458123, 48458300]]
ENST00000511711	[[48450602, 48450638], [48452545, 48452873], [48453157, 48453344], [48453426, 48453554]]	[[48452569, 48452873], [48453157, 48453159]]
ENST00000511519	[[48450614, 48450638], [48452545, 48452873], [48453426, 48453554], [48455960, 48456042]]	[[48452569, 48452873], [48453426, 48453554], [48455960, 48456042]]
ENST00000510007	[[48450614, 48450638], [48452545, 48452873], [48453426, 48453554], [48455960, 48456042], [48456134, 48456256], [48456467, 48456585], [48456812, 48457548]]	None
ENST00000511648	[[48452545, 48453344], [48453426, 48453554], [48455955, 48456042], [48456134, 48456256], [48456428, 48456585], [48456812, 48456928], [48457672, 48457862], [48458123, 48458820]]	[[48452569, 48453344], [48453426, 48453554], [48455955, 48456042], [48456134, 48456256], [48456428, 48456585], [48456812, 48456928], [48457672, 48457862], [48458123, 48458300]]
ENST00000510246	[[48453048, 48453344], [48453426, 48453554], [48456134, 48456256], [48456467, 48456585], [48456812, 48456928], [48457672, 48457862], [48458123, 48458163]]	[[48453048, 48453344], [48453426, 48453554], [48456134, 48456256], [48456467, 48456585], [48456812, 48456928], [48457672, 48457862], [48458123, 48458163]]
ENST00000513077	[[48453469, 48453554], [48455955, 48456042], [48456134, 48456256], [48456467, 48456585], [48456812, 48456962]]	None
ENST00000514211	[[48456243, 48456585], [48456812, 48456928], [48457672, 48457676]]	None
ENST00000507616	[[48457119, 48457862], [48458123, 48458818]]	None
NM_152463	[[48450580, 48450638], [48452545, 48453344], [48453426, 48453554], [48455955, 48456042], [48456134, 48456256], [48456467, 48456585], [48456812, 48456928], [48457672, 48457862], [48458123, 48458820]]	[[48452569, 48453344], [48453426, 48453554], [48455955, 48456042], [48456134, 48456256], [48456467, 48456585], [48456812, 48456928], [48457672, 48457862], [48458123, 48458300]]
NM_001166131	[[48450580, 48450638], [48452545, 48453344], [48453426, 48453554], [48455955, 48456042], [48456134, 48456256], [48456428, 48456585], [48456812, 48456928], [48457672, 48457862], [48458123, 48458820]]	[[48452569, 48453344], [48453426, 48453554], [48455955, 48456042], [48456134, 48456256], [48456428, 48456585], [48456812, 48456928], [48457672, 48457862], [48458123, 48458300]]

Promoter

Chrom	Start	End	Description
chr17	48450575	48450618	CAGE_peak_1_at_EME1_5end
chr17	48456180	48456192	CAGE_peak_6_at_EME1_5end
chr17	48456309	48456321	CAGE_peak_3_at_EME1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I049674	49674625	49678748	2.31	[{'connected_gene': 'SPOP', 'score': 550.77}, {'connected_gene': 'ENSG00000262837', 'score': 13.22}, {'connected_gene': 'SLC35B1', 'score': 11.91}, {'connected_gene': 'ENSG00000250751', 'score': 11.91}, {'connected_gene': 'UBE2Z', 'score': 11.67}, {'connected_gene': 'ENSG00000250310', 'score': 11.22}, {'connected_gene': 'EME1', 'score': 10.9}, {'connected_gene': 'CACNA1G-AS1', 'score': 10.72}, {'connected_gene': 'SPATA20', 'score': 9.71}, {'connected_gene': 'PHB', 'score': 9.51}, {'connected_gene': 'RPL21P124', 'score': 9.51}, {'connected_gene': 'ENSG00000250186', 'score': 9.51}, {'connected_gene': 'GC17P049596', 'score': 0.18}]
chr17	GH17I050340	50339785	50340615	0.2	[{'connected_gene': 'MRPL27', 'score': 11.3}, {'connected_gene': 'EME1', 'score': 11.3}, {'connected_gene': 'XYLT2', 'score': 10.4}, {'connected_gene': 'HILS1', 'score': 9.95}, {'connected_gene': 'SGCA', 'score': 9.94}, {'connected_gene': 'ENSG00000253730', 'score': 9.94}, {'connected_gene': 'TMEM92-AS1', 'score': 0.23}]
chr17	GH17I050371	50371247	50373990	2.12	[{'connected_gene': 'MRPL27', 'score': 560.94}, {'connected_gene': 'EME1', 'score': 558.05}, {'connected_gene': 'ENSG00000262837', 'score': 36.81}, {'connected_gene': 'LUC7L3', 'score': 28.29}, {'connected_gene': 'MBTD1', 'score': 23.53}, {'connected_gene': 'CACNA1G-AS1', 'score': 21.8}, {'connected_gene': 'KAT7', 'score': 14.66}, {'connected_gene': 'FLJ45513', 'score': 13.7}, {'connected_gene': 'FAM117A', 'score': 12.96}, {'connected_gene': 'TAC4', 'score': 11.18}, {'connected_gene': 'XYLT2', 'score': 10.45}, {'connected_gene': 'ENSG00000250751', 'score': 10.16}, {'connected_gene': 'SAMD14', 'score': 9.75}, {'connected_gene': 'NXPH3', 'score': 9.75}, {'connected_gene': 'GC17M050368', 'score': 0.44}, {'connected_gene': 'PIR36688', 'score': 0.44}]
chr17	GH17I050339	50339155	50339731	0.31	[{'connected_gene': 'MRPL27', 'score': 11.53}, {'connected_gene': 'EME1', 'score': 11.53}, {'connected_gene': 'COL1A1', 'score': 10.8}, {'connected_gene': 'ACSF2', 'score': 10.34}, {'connected_gene': 'CHAD', 'score': 10.29}, {'connected_gene': 'HILS1', 'score': 9.95}, {'connected_gene': 'SGCA', 'score': 9.94}, {'connected_gene': 'ENSG00000253730', 'score': 9.94}, {'connected_gene': 'XYLT2', 'score': 0.44}, {'connected_gene': 'TMEM92-AS1', 'score': 0.23}]
chr17	GH17I051152	51152247	51155110	2.17	[{'connected_gene': 'NME1', 'score': 587.63}, {'connected_gene': 'NME1-NME2', 'score': 550.77}, {'connected_gene': 'MBTD1', 'score': 97.87}, {'connected_gene': 'LUC7L3', 'score': 60.74}, {'connected_gene': 'UTP18', 'score': 35.06}, {'connected_gene': 'COL1A1', 'score': 27.89}, {'connected_gene': 'EME1', 'score': 21.22}, {'connected_gene': 'NME2', 'score': 19.81}, {'connected_gene': 'LOC105371824', 'score': 18.65}, {'connected_gene': 'CACNA1G-AS1', 'score': 13.09}, {'connected_gene': 'SPAG9', 'score': 13.03}, {'connected_gene': 'XYLT2', 'score': 9.85}]
chr17	GH17I050395	50395451	50398169	2.13	[{'connected_gene': 'LRRC59', 'score': 550.77}, {'connected_gene': 'ENSG00000253102', 'score': 550.77}, {'connected_gene': 'ENSG00000262837', 'score': 56.74}, {'connected_gene': 'MBTD1', 'score': 45.06}, {'connected_gene': 'LOC105371824', 'score': 31.59}, {'connected_gene': 'LUC7L3', 'score': 30.71}, {'connected_gene': 'CACNA1G-AS1', 'score': 22.11}, {'connected_gene': 'UTP18', 'score': 21.14}, {'connected_gene': 'FLJ45513', 'score': 20.93}, {'connected_gene': 'FAM117A', 'score': 20.37}, {'connected_gene': 'XYLT2', 'score': 18.52}, {'connected_gene': 'EIF4EP2', 'score': 16.92}, {'connected_gene': 'EME1', 'score': 16.67}, {'connected_gene': 'COL1A1', 'score': 10.62}, {'connected_gene': 'PICART1', 'score': 9.86}, {'connected_gene': 'ENSG00000249451', 'score': 9.79}, {'connected_gene': 'NXPH3', 'score': 9.75}, {'connected_gene': 'SAMD14', 'score': 9.74}, {'connected_gene': 'ANKRD40', 'score': 4.71}]
chr17	GH17I051164	51164931	51168432	2.09	[{'connected_gene': 'NME2', 'score': 585.75}, {'connected_gene': 'UTP18', 'score': 44.08}, {'connected_gene': 'MBTD1', 'score': 20.59}, {'connected_gene': 'LUC7L3', 'score': 16.97}, {'connected_gene': 'EME1', 'score': 12.07}, {'connected_gene': 'COL1A1', 'score': 10.11}, {'connected_gene': 'NME1-NME2', 'score': 0.39}, {'connected_gene': 'ENSG00000279089', 'score': 0.37}]
chr17	GH17I050046	50046266	50067562	2.73	[{'connected_gene': 'ITGA3', 'score': 571.77}, {'connected_gene': 'PICART1', 'score': 559.93}, {'connected_gene': 'ENSG00000262837', 'score': 43.18}, {'connected_gene': 'LUC7L3', 'score': 22.83}, {'connected_gene': 'FAM117A', 'score': 13.97}, {'connected_gene': 'FLJ45513', 'score': 12.87}, {'connected_gene': 'PDK2', 'score': 12.22}, {'connected_gene': 'ENSG00000250282', 'score': 11.64}, {'connected_gene': 'LOC105371824', 'score': 11.26}, {'connected_gene': 'COL1A1', 'score': 11.17}, {'connected_gene': 'ENSG00000248172', 'score': 11.03}, {'connected_gene': 'DLX3', 'score': 11.03}, {'connected_gene': 'EME1', 'score': 10.93}, {'connected_gene': 'SAMD14', 'score': 10.85}, {'connected_gene': 'TAC4', 'score': 10.56}, {'connected_gene': 'ENSG00000261959', 'score': 5.2}, {'connected_gene': 'EPN3', 'score': 3.75}, {'connected_gene': 'XYLT2', 'score': 1.3}, {'connected_gene': 'LRRC59', 'score': 1.28}, {'connected_gene': 'GC17P050063', 'score': 0.44}]
chr17	GH17I050278	50278422	50282052	1.07	[{'connected_gene': 'TMEM92', 'score': 26.43}, {'connected_gene': 'EME1', 'score': 4.49}, {'connected_gene': 'TMEM92-AS1', 'score': 0.44}]
chr17	GH17I049880	49880207	49881247	1.04	[{'connected_gene': 'EME1', 'score': 12.09}, {'connected_gene': 'ENSG00000248954', 'score': 0.44}, {'connected_gene': 'TAC4', 'score': 0.29}]
chr17	GH17I049575	49575600	49577280	2.16	[{'connected_gene': 'NXPH3', 'score': 550.77}, {'connected_gene': 'ENSG00000250310', 'score': 550.77}, {'connected_gene': 'KAT7', 'score': 20.57}, {'connected_gene': 'ENSG00000262837', 'score': 13.19}, {'connected_gene': 'SUMO2P17', 'score': 11.91}, {'connected_gene': 'ENSG00000230532', 'score': 11.84}, {'connected_gene': 'UBE2Z', 'score': 11.67}, {'connected_gene': 'EME1', 'score': 10.9}, {'connected_gene': 'CACNA1G-AS1', 'score': 10.73}, {'connected_gene': 'LOC105371824', 'score': 10.65}, {'connected_gene': 'FLJ45513', 'score': 4.74}]
chr17	GH17I050659	50659555	50664404	1.47	[{'connected_gene': 'GC17P050663', 'score': 550.77}, {'connected_gene': 'ABCC3', 'score': 18.0}, {'connected_gene': 'ANKRD40', 'score': 16.99}, {'connected_gene': 'EME1', 'score': 12.11}, {'connected_gene': 'LOC101927253', 'score': 11.92}, {'connected_gene': 'UTP18', 'score': 11.03}, {'connected_gene': 'NME2', 'score': 10.77}, {'connected_gene': 'CACNA1G-AS1', 'score': 10.75}, {'connected_gene': 'CACNA1G', 'score': 10.74}, {'connected_gene': 'EPN3', 'score': 10.61}, {'connected_gene': 'SPATA20', 'score': 10.61}, {'connected_gene': 'LOC105371824', 'score': 10.61}, {'connected_gene': 'ACSF2', 'score': 10.61}, {'connected_gene': 'MYCBPAP', 'score': 10.53}, {'connected_gene': 'MBTD1', 'score': 10.47}, {'connected_gene': 'CHAD', 'score': 10.21}, {'connected_gene': 'WFIKKN2', 'score': 10.1}]
chr17	GH17I049569	49569402	49570877	1.51	[{'connected_gene': 'ENSG00000262837', 'score': 23.14}, {'connected_gene': 'ENSG00000230532', 'score': 21.22}, {'connected_gene': 'NXPH3', 'score': 18.52}, {'connected_gene': 'SUMO2P17', 'score': 11.91}, {'connected_gene': 'LOC105371824', 'score': 11.68}, {'connected_gene': 'UBE2Z', 'score': 11.67}, {'connected_gene': 'EME1', 'score': 10.9}, {'connected_gene': 'CACNA1G-AS1', 'score': 9.85}, {'connected_gene': 'PICART1', 'score': 9.75}, {'connected_gene': 'LOC100288866', 'score': 0.77}, {'connected_gene': 'ENSG00000250310', 'score': 0.44}, {'connected_gene': 'MIR6165', 'score': 0.22}]