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
ENST00000603594	[[115999017, 115999328], [116008462, 116008524], [116013409, 116013484], [116014673, 116014807], [116020944, 116021054], [116032498, 116032693], [116037672, 116037806], [116038477, 116038610], [116042274, 116042330], [116044621, 116044729], [116045697, 116046270], [116048696, 116049751]]	[[116008472, 116008524], [116013409, 116013484], [116014673, 116014807], [116020944, 116021054], [116032498, 116032693], [116037672, 116037806], [116038477, 116038610], [116042274, 116042330], [116044621, 116044729], [116045697, 116046270], [116048696, 116049304]]
ENST00000298715	[[115999088, 115999328], [116008462, 116008524], [116013409, 116013484], [116014673, 116014807], [116020944, 116021054], [116032498, 116032693], [116037672, 116037806], [116038477, 116038610], [116042274, 116042330], [116044621, 116044729], [116045697, 116046270], [116048696, 116049751]]	None
ENST00000392982	[[115999088, 115999328], [116008462, 116008524], [116013409, 116013484], [116014673, 116014807], [116020944, 116021054], [116032498, 116032693], [116037672, 116037806], [116038477, 116038610], [116042274, 116042330], [116044621, 116044729], [116045697, 116046270], [116048696, 116049248], [116049998, 116050124], [116050976, 116051272]]	[[116008472, 116008524], [116013409, 116013484], [116014673, 116014807], [116020944, 116021054], [116032498, 116032693], [116037672, 116037806], [116038477, 116038610], [116042274, 116042330], [116044621, 116044729], [116045697, 116046270], [116048696, 116049248], [116049998, 116050124], [116050976, 116050996]]
NM_001272046	[[115999012, 115999328], [116008462, 116008524], [116013409, 116013484], [116014673, 116014807], [116020944, 116021054], [116032498, 116032693], [116037672, 116037806], [116038477, 116038610], [116042274, 116042330], [116044621, 116044729], [116045697, 116046270], [116048696, 116049248], [116049998, 116050124], [116050976, 116054259]]	[[116008472, 116008524], [116013409, 116013484], [116014673, 116014807], [116020944, 116021054], [116032498, 116032693], [116037672, 116037806], [116038477, 116038610], [116042274, 116042330], [116044621, 116044729], [116045697, 116046270], [116048696, 116049248], [116049998, 116050124], [116050976, 116050996]]
NM_001320804	[[115999372, 115999630], [116008462, 116008524], [116013409, 116013484], [116014673, 116014807], [116020944, 116021054], [116032498, 116032693], [116037672, 116037806], [116038477, 116038610], [116042274, 116042330], [116044621, 116044729], [116045697, 116046270], [116048696, 116049248], [116049998, 116050124], [116050976, 116054259]]	[[116008472, 116008524], [116013409, 116013484], [116014673, 116014807], [116020944, 116021054], [116032498, 116032693], [116037672, 116037806], [116038477, 116038610], [116042274, 116042330], [116044621, 116044729], [116045697, 116046270], [116048696, 116049248], [116049998, 116050124], [116050976, 116050996]]

Promoter

Chrom	Start	End	Description
chr10	115999004	115999019	CAGE_peak_1_at_VWA2_5end
chr10	115999110	115999141	CAGE_peak_4_at_VWA2_5end
chr10	115999167	115999172	CAGE_peak_8_at_VWA2_5end
chr10	115999180	115999190	CAGE_peak_7_at_VWA2_5end
chr10	115999258	115999292	CAGE_peak_2_at_VWA2_5end
chr10	115999510	115999521	CAGE_peak_5_at_VWA2_5end
chr10	115999570	115999575	CAGE_peak_9_at_VWA2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I114306	114306372	114307873	1.04	[{'connected_gene': 'AFAP1L2', 'score': 11.78}, {'connected_gene': 'VWA2', 'score': 10.55}, {'connected_gene': 'LOC105378494', 'score': 0.39}, {'connected_gene': 'ENSG00000275024', 'score': 0.31}]
chr10	GH10I114228	114228302	114228451	0.38	[{'connected_gene': 'TDRD1', 'score': 11.14}, {'connected_gene': 'PLEKHS1', 'score': 8.68}, {'connected_gene': 'VWA2', 'score': 0.39}, {'connected_gene': 'CCDC186', 'score': 0.23}]
chr10	GH10I114181	114181716	114183299	0.93	[{'connected_gene': 'TDRD1', 'score': 550.44}, {'connected_gene': 'CCDC186', 'score': 0.44}, {'connected_gene': 'VWA2', 'score': 0.22}]
chr10	GH10I114179	114179304	114179363	0.86	[{'connected_gene': 'TDRD1', 'score': 550.77}, {'connected_gene': 'CCDC186', 'score': 0.77}, {'connected_gene': 'VWA2', 'score': 0.22}]
chr10	GH10I114257	114257484	114259051	0.38	[{'connected_gene': 'TDRD1', 'score': 18.61}, {'connected_gene': 'AURKAPS2', 'score': 0.39}, {'connected_gene': 'VWA2', 'score': 0.37}, {'connected_gene': 'ENSG00000275024', 'score': 0.34}]
chr10	GH10I114130	114130842	114131598	0.31	[{'connected_gene': 'TDRD1', 'score': 10.85}, {'connected_gene': 'VWA2', 'score': 10.28}, {'connected_gene': 'PLEKHS1', 'score': 10.15}, {'connected_gene': 'UBE2V1P5', 'score': 0.39}, {'connected_gene': 'ENSG00000273904', 'score': 0.28}, {'connected_gene': 'CCDC186', 'score': 0.26}]
chr10	GH10I114270	114270971	114272490	0.89	[{'connected_gene': 'TDRD1', 'score': 15.4}, {'connected_gene': 'VWA2', 'score': 11.28}, {'connected_gene': 'ENSG00000275024', 'score': 0.44}, {'connected_gene': 'AURKAPS2', 'score': 0.31}]
chr10	GH10I114266	114266592	114266978	0.63	[{'connected_gene': 'TDRD1', 'score': 15.51}, {'connected_gene': 'VWA2', 'score': 11.29}, {'connected_gene': 'ENSG00000275024', 'score': 0.39}, {'connected_gene': 'AURKAPS2', 'score': 0.34}]
chr10	GH10I114150	114150949	114152403	0.52	[{'connected_gene': 'TDRD1', 'score': 21.5}, {'connected_gene': 'VWA2', 'score': 19.56}, {'connected_gene': 'RNU6-709P', 'score': 11.51}, {'connected_gene': 'ADRB1', 'score': 10.09}, {'connected_gene': 'ENSG00000273904', 'score': 0.37}, {'connected_gene': 'CCDC186', 'score': 0.34}, {'connected_gene': 'UBE2V1P5', 'score': 0.29}]
chr10	GH10I114171	114171806	114175451	2.01	[{'connected_gene': 'TDRD1', 'score': 560.45}, {'connected_gene': 'MIR2110', 'score': 550.77}, {'connected_gene': 'GC10M114175', 'score': 550.77}, {'connected_gene': 'CCDC186', 'score': 550.77}, {'connected_gene': 'VWA2', 'score': 8.93}, {'connected_gene': 'ENSG00000273904', 'score': 0.44}]
chr10	GH10I114607	114605522	114605671	0.88	[{'connected_gene': 'ABLIM1', 'score': 11.58}, {'connected_gene': 'VWA2', 'score': 9.56}, {'connected_gene': 'PPIAP19', 'score': 0.17}, {'connected_gene': 'ENSG00000229668', 'score': 0.15}]
chr10	GH10I114606	114606340	114608270	0.62	[{'connected_gene': 'ABLIM1', 'score': 11.58}, {'connected_gene': 'VWA2', 'score': 9.56}, {'connected_gene': 'PPIAP19', 'score': 0.18}, {'connected_gene': 'ENSG00000229668', 'score': 0.15}]
chr10	GH10I114604	114604866	114605127	0.66	[{'connected_gene': 'ABLIM1', 'score': 11.58}, {'connected_gene': 'VWA2', 'score': 9.56}, {'connected_gene': 'PPIAP19', 'score': 0.17}, {'connected_gene': 'ENSG00000229668', 'score': 0.15}]
chr10	GH10I114601	114601410	114603822	0.38	[{'connected_gene': 'ABLIM1', 'score': 11.58}, {'connected_gene': 'VWA2', 'score': 9.56}, {'connected_gene': 'PPIAP19', 'score': 0.17}, {'connected_gene': 'ENSG00000229668', 'score': 0.15}]
chr10	GH10I114605	114605201	114605400	0.88	[{'connected_gene': 'ABLIM1', 'score': 11.58}, {'connected_gene': 'VWA2', 'score': 9.56}, {'connected_gene': 'PPIAP19', 'score': 0.17}, {'connected_gene': 'ENSG00000229668', 'score': 0.15}]
chr10	GH10I114599	114599833	114601318	0.2	[{'connected_gene': 'ABLIM1', 'score': 11.64}, {'connected_gene': 'VWA2', 'score': 9.56}, {'connected_gene': 'PPIAP19', 'score': 0.16}, {'connected_gene': 'ENSG00000229668', 'score': 0.15}]
chr10	GH10I114244	114244242	114247651	0.38	[{'connected_gene': 'AURKAPS2', 'score': 550.77}, {'connected_gene': 'TDRD1', 'score': 26.33}, {'connected_gene': 'VWA2', 'score': 0.44}]
chr10	GH10I114303	114303582	114305571	1.52	[{'connected_gene': 'VWA2', 'score': 15.7}, {'connected_gene': 'AFAP1L2', 'score': 11.77}, {'connected_gene': 'LOC105378494', 'score': 0.37}, {'connected_gene': 'ENSG00000275024', 'score': 0.34}]
chr10	GH10I114373	114372362	114372451	0.66	[{'connected_gene': 'VWA2', 'score': 10.11}, {'connected_gene': 'GC10P114357', 'score': 0.39}, {'connected_gene': 'AFAP1L2', 'score': 0.29}]
chr10	GH10I114239	114239085	114240450	1.48	[{'connected_gene': 'VWA2', 'score': 550.77}, {'connected_gene': 'TDRD1', 'score': 16.52}, {'connected_gene': 'FAM160B1', 'score': 12.97}, {'connected_gene': 'CCDC186', 'score': 12.77}, {'connected_gene': 'AURKAPS2', 'score': 0.44}]
chr10	GH10I114265	114265802	114265951	0.2	[{'connected_gene': 'VWA2', 'score': 11.29}, {'connected_gene': 'TDRD1', 'score': 10.26}, {'connected_gene': 'AURKAPS2', 'score': 0.37}, {'connected_gene': 'ENSG00000275024', 'score': 0.37}]
chr10	GH10I114259	114259942	114261713	0.63	[{'connected_gene': 'VWA2', 'score': 21.08}, {'connected_gene': 'TDRD1', 'score': 19.09}, {'connected_gene': 'AURKAPS2', 'score': 0.39}, {'connected_gene': 'ENSG00000275024', 'score': 0.34}]
chr10	GH10I114365	114365989	114369213	1.17	[{'connected_gene': 'VWA2', 'score': 10.12}, {'connected_gene': 'NHLRC2', 'score': 5.31}, {'connected_gene': 'GC10P114357', 'score': 0.44}, {'connected_gene': 'AFAP1L2', 'score': 0.28}]
chr10	GH10I114301	114301745	114302829	0.2	[{'connected_gene': 'VWA2', 'score': 10.05}, {'connected_gene': 'LOC105378494', 'score': 0.37}, {'connected_gene': 'ENSG00000275024', 'score': 0.34}, {'connected_gene': 'AFAP1L2', 'score': 0.15}]
chr10	GH10I114073	114073851	114074395	0.84	[{'connected_gene': 'ADRB1', 'score': 12.38}, {'connected_gene': 'VWA2', 'score': 7.65}, {'connected_gene': 'PLEKHS1', 'score': 1.93}, {'connected_gene': 'GC10M114063', 'score': 0.44}, {'connected_gene': 'RNU6-709P', 'score': 0.28}]
chr10	GH10I114083	114082062	114082211	0.49	[{'connected_gene': 'ADRB1', 'score': 11.14}, {'connected_gene': 'VWA2', 'score': 9.22}, {'connected_gene': 'GC10M114063', 'score': 0.37}, {'connected_gene': 'RNU6-709P', 'score': 0.31}]
chr10	GH10I114280	114280022	114280171	0.49	[{'connected_gene': 'ENSG00000275024', 'score': 550.77}, {'connected_gene': 'TDRD1', 'score': 9.4}, {'connected_gene': 'AURKAPS2', 'score': 0.29}, {'connected_gene': 'VWA2', 'score': 0.26}]
chr10	GH10I114165	114165677	114166887	0.62	[{'connected_gene': 'ENSG00000273904', 'score': 550.77}, {'connected_gene': 'VWA2', 'score': 8.91}, {'connected_gene': 'TDRD1', 'score': 6.44}, {'connected_gene': 'CCDC186', 'score': 0.44}, {'connected_gene': 'UBE2V1P5', 'score': 0.25}]