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
ENST00000590320	[[10334519, 10335623], [10341879, 10341948]]	[[10334519, 10335581]]
NM_004230	[[10332108, 10335623], [10341879, 10341948]]	[[10334519, 10335581]]

Promoter

Chrom	Start	End	Description
chr19	10341949	10341965	CAGE_peak_2_at_S1PR2_5end
chr19	10341969	10342016	CAGE_peak_1_at_S1PR2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I010224	10224447	10232352	2.19	[{'connected_gene': 'S1PR2', 'score': 557.9}, {'connected_gene': 'ILF3', 'score': 15.02}, {'connected_gene': 'TIMM29', 'score': 14.79}, {'connected_gene': 'PPAN', 'score': 13.99}, {'connected_gene': 'KRI1', 'score': 13.38}, {'connected_gene': 'ZNF561', 'score': 12.95}, {'connected_gene': 'ZNF426', 'score': 12.88}, {'connected_gene': 'ZNF699', 'score': 12.08}, {'connected_gene': 'FBXL12', 'score': 11.64}, {'connected_gene': 'LOC100419831', 'score': 10.69}, {'connected_gene': 'ZNF846', 'score': 9.98}, {'connected_gene': 'EIF3G', 'score': 9.94}, {'connected_gene': 'ZNF266', 'score': 9.78}, {'connected_gene': 'MRPL4', 'score': 8.32}, {'connected_gene': 'C19orf66', 'score': 4.62}, {'connected_gene': 'DNMT1', 'score': 0.77}, {'connected_gene': 'MIR4322', 'score': 0.77}, {'connected_gene': 'GC19M010222', 'score': 0.44}]
chr19	GH19I010379	10379559	10381494	2.09	[{'connected_gene': 'TYK2', 'score': 570.53}, {'connected_gene': 'GC19P010382', 'score': 550.77}, {'connected_gene': 'ILF3', 'score': 117.7}, {'connected_gene': 'KRI1', 'score': 90.79}, {'connected_gene': 'FBXL12', 'score': 75.59}, {'connected_gene': 'DNMT1', 'score': 68.9}, {'connected_gene': 'PPAN', 'score': 67.71}, {'connected_gene': 'RAVER1', 'score': 58.92}, {'connected_gene': 'LOC100419831', 'score': 53.57}, {'connected_gene': 'ZNF561', 'score': 48.51}, {'connected_gene': 'TIMM29', 'score': 41.42}, {'connected_gene': 'ZNF121', 'score': 40.61}, {'connected_gene': 'ZNF426', 'score': 38.41}, {'connected_gene': 'CDC37', 'score': 30.36}, {'connected_gene': 'EIF3G', 'score': 29.84}, {'connected_gene': 'ZNF562', 'score': 28.66}, {'connected_gene': 'YIPF2', 'score': 21.63}, {'connected_gene': 'SWSAP1', 'score': 19.54}, {'connected_gene': 'ENSG00000267273', 'score': 18.19}, {'connected_gene': 'UBE2L4', 'score': 12.01}, {'connected_gene': 'ZNF846', 'score': 11.89}, {'connected_gene': 'SMARCA4', 'score': 10.6}, {'connected_gene': 'S1PR2', 'score': 10.03}, {'connected_gene': 'QTRT1', 'score': 10.01}, {'connected_gene': 'ENSG00000200237', 'score': 9.72}, {'connected_gene': 'GC19M010353', 'score': 0.31}]
chr19	GH19I010285	10285908	10293475	1.99	[{'connected_gene': 'ICAM5', 'score': 561.52}, {'connected_gene': 'GC19P010288', 'score': 550.77}, {'connected_gene': 'ENSG00000267607', 'score': 550.77}, {'connected_gene': 'GC19P010291', 'score': 550.77}, {'connected_gene': 'ICAM4', 'score': 550.77}, {'connected_gene': 'ILF3', 'score': 48.58}, {'connected_gene': 'ZNF266', 'score': 45.03}, {'connected_gene': 'ZNF699', 'score': 40.71}, {'connected_gene': 'KRI1', 'score': 39.43}, {'connected_gene': 'FBXL12', 'score': 38.74}, {'connected_gene': 'RAVER1', 'score': 37.64}, {'connected_gene': 'ZNF561', 'score': 37.32}, {'connected_gene': 'EIF3G', 'score': 33.15}, {'connected_gene': 'ZNF426', 'score': 33.07}, {'connected_gene': 'ZNF559', 'score': 31.79}, {'connected_gene': 'LOC100419831', 'score': 30.97}, {'connected_gene': 'PPAN', 'score': 22.17}, {'connected_gene': 'TIMM29', 'score': 14.8}, {'connected_gene': 'DOCK6', 'score': 13.75}, {'connected_gene': 'ZNF177', 'score': 11.11}, {'connected_gene': 'ILF3-AS1', 'score': 10.73}, {'connected_gene': 'ZNF562', 'score': 10.63}, {'connected_gene': 'ZNF121', 'score': 10.42}, {'connected_gene': 'ENSG00000267510', 'score': 10.4}, {'connected_gene': 'CDC37', 'score': 10.37}, {'connected_gene': 'S1PR2', 'score': 10.14}, {'connected_gene': 'QTRT1', 'score': 10.12}, {'connected_gene': 'ZNF846', 'score': 9.98}, {'connected_gene': 'ICAM1', 'score': 7.03}, {'connected_gene': 'GC19P010287', 'score': 0.77}, {'connected_gene': 'GC19M010308', 'score': 0.37}]
chr19	GH19I010197	10197601	10201814	0.86	[{'connected_gene': 'C19orf66', 'score': 19.46}, {'connected_gene': 'ANGPTL6', 'score': 17.11}, {'connected_gene': 'S1PR2', 'score': 13.47}, {'connected_gene': 'MRPL4', 'score': 12.13}, {'connected_gene': 'ICAM1', 'score': 12.1}, {'connected_gene': 'EIF3G', 'score': 11.76}, {'connected_gene': 'SNORD105B', 'score': 11.38}, {'connected_gene': 'P2RY11', 'score': 11.38}, {'connected_gene': 'PPAN', 'score': 11.37}, {'connected_gene': 'PPAN-P2RY11', 'score': 11.37}, {'connected_gene': 'SNORD105', 'score': 11.37}, {'connected_gene': 'RDH8', 'score': 10.4}, {'connected_gene': 'COL5A3', 'score': 10.4}, {'connected_gene': 'DNM2', 'score': 4.72}, {'connected_gene': 'LOC103689916', 'score': 0.37}, {'connected_gene': 'GC19M010177', 'score': 0.34}, {'connected_gene': 'DNMT1', 'score': 0.29}]
chr19	GH19I010235	10235142	10239554	1.74	[{'connected_gene': 'S1PR5', 'score': 10.32}, {'connected_gene': 'COL5A3', 'score': 9.67}, {'connected_gene': 'RDH8', 'score': 9.67}, {'connected_gene': 'MRPL4', 'score': 9.41}, {'connected_gene': 'S1PR2', 'score': 5.44}, {'connected_gene': 'ATG4D', 'score': 3.43}, {'connected_gene': 'C19orf66', 'score': 2.39}, {'connected_gene': 'TYK2', 'score': 2.31}, {'connected_gene': 'DNM2', 'score': 1.98}, {'connected_gene': 'FBXL12', 'score': 1.8}, {'connected_gene': 'ICAM3', 'score': 1.72}, {'connected_gene': 'PPAN', 'score': 1.71}, {'connected_gene': 'ZNF846', 'score': 1.28}]
chr19	GH19I010250	10250000	10250401	1.06	[{'connected_gene': 'MRPL4', 'score': 557.52}, {'connected_gene': 'ICAM4', 'score': 12.01}, {'connected_gene': 'ICAM5', 'score': 12.01}, {'connected_gene': 'EIF3G', 'score': 11.78}, {'connected_gene': 'TYK2', 'score': 11.14}, {'connected_gene': 'C19orf66', 'score': 11.12}, {'connected_gene': 'S1PR2', 'score': 0.37}]
chr19	GH19I010240	10240110	10240651	0.7	[{'connected_gene': 'RDH8', 'score': 9.67}, {'connected_gene': 'COL5A3', 'score': 9.67}, {'connected_gene': 'S1PR2', 'score': 0.44}, {'connected_gene': 'MRPL4', 'score': 0.39}]
chr19	GH19I010244	10244438	10244574	0.2	[{'connected_gene': 'RDH8', 'score': 9.67}, {'connected_gene': 'COL5A3', 'score': 9.67}, {'connected_gene': 'MRPL4', 'score': 0.44}, {'connected_gene': 'S1PR2', 'score': 0.39}]
chr19	GH19I010241	10241694	10242064	0.4	[{'connected_gene': 'RDH8', 'score': 9.67}, {'connected_gene': 'COL5A3', 'score': 9.67}, {'connected_gene': 'MRPL4', 'score': 3.02}, {'connected_gene': 'RAVER1', 'score': 2.45}, {'connected_gene': 'PPAN', 'score': 2.28}, {'connected_gene': 'DNMT1', 'score': 2.27}, {'connected_gene': 'ILF3', 'score': 1.75}, {'connected_gene': 'KRI1', 'score': 1.54}, {'connected_gene': 'S1PR2', 'score': 0.39}]
chr19	GH19I010717	10717287	10721023	2.52	[{'connected_gene': 'DNM2', 'score': 553.0}, {'connected_gene': 'GC19P010718', 'score': 550.77}, {'connected_gene': 'MIR638', 'score': 550.77}, {'connected_gene': 'KRI1', 'score': 38.27}, {'connected_gene': 'EIF3G', 'score': 34.49}, {'connected_gene': 'ILF3', 'score': 34.34}, {'connected_gene': 'FBXL12', 'score': 24.01}, {'connected_gene': 'RAVER1', 'score': 20.45}, {'connected_gene': 'TIMM29', 'score': 20.24}, {'connected_gene': 'PPAN', 'score': 19.83}, {'connected_gene': 'QTRT1', 'score': 19.65}, {'connected_gene': 'ZNF627', 'score': 19.54}, {'connected_gene': 'ILF3-AS1', 'score': 19.03}, {'connected_gene': 'LOC100419831', 'score': 19.0}, {'connected_gene': 'SLC44A2', 'score': 16.94}, {'connected_gene': 'DOCK6', 'score': 13.75}, {'connected_gene': 'PRKCSH', 'score': 12.4}, {'connected_gene': 'CARM1', 'score': 10.97}, {'connected_gene': 'SWSAP1', 'score': 10.83}, {'connected_gene': 'DNMT1', 'score': 10.69}, {'connected_gene': 'UBE2L4', 'score': 9.97}, {'connected_gene': 'S1PR2', 'score': 9.96}, {'connected_gene': 'ZNF846', 'score': 9.85}, {'connected_gene': 'HNRNPA1P10', 'score': 9.79}, {'connected_gene': 'SMARCA4', 'score': 6.97}, {'connected_gene': 'S1PR5', 'score': 6.45}, {'connected_gene': 'CDKN2D', 'score': 2.51}, {'connected_gene': 'ICAM3', 'score': 2.34}, {'connected_gene': 'ATG4D', 'score': 2.01}, {'connected_gene': 'TYK2', 'score': 1.93}, {'connected_gene': 'C19orf38', 'score': 1.27}, {'connected_gene': 'PIR47140', 'score': 0.44}]
chr19	GH19I010331	10331814	10335539	1.6	[{'connected_gene': 'RAVER1', 'score': 574.86}, {'connected_gene': 'PIR48013', 'score': 550.77}, {'connected_gene': 'ENSG00000274425', 'score': 550.77}, {'connected_gene': 'ILF3', 'score': 36.57}, {'connected_gene': 'LOC100419831', 'score': 33.3}, {'connected_gene': 'ZNF846', 'score': 20.18}, {'connected_gene': 'ZNF266', 'score': 19.61}, {'connected_gene': 'ZNF562', 'score': 19.51}, {'connected_gene': 'ZNF561', 'score': 18.85}, {'connected_gene': 'FBXL12', 'score': 17.09}, {'connected_gene': 'ZNF177', 'score': 14.55}, {'connected_gene': 'KRI1', 'score': 13.27}, {'connected_gene': 'LOC100128428', 'score': 11.99}, {'connected_gene': 'DNMT1', 'score': 11.5}, {'connected_gene': 'EIF3G', 'score': 10.92}, {'connected_gene': 'PPAN', 'score': 10.56}, {'connected_gene': 'ILF3-AS1', 'score': 10.34}, {'connected_gene': 'ZNF426', 'score': 10.32}, {'connected_gene': 'RPS4XP22', 'score': 10.24}, {'connected_gene': 'UBE2L4', 'score': 9.97}, {'connected_gene': 'QTRT1', 'score': 9.7}, {'connected_gene': 'ICAM3', 'score': 9.45}, {'connected_gene': 'FDX2', 'score': 6.89}, {'connected_gene': 'S1PR2', 'score': 4.63}]
chr19	GH19I010418	10417959	10418894	0.87	[{'connected_gene': 'CDC37', 'score': 550.77}, {'connected_gene': 'PDE4A', 'score': 550.77}, {'connected_gene': 'ZNF266', 'score': 20.84}, {'connected_gene': 'RAVER1', 'score': 20.57}, {'connected_gene': 'KRI1', 'score': 15.05}, {'connected_gene': 'FBXL12', 'score': 14.56}, {'connected_gene': 'ZNF561', 'score': 14.47}, {'connected_gene': 'ILF3', 'score': 14.07}, {'connected_gene': 'EIF3G', 'score': 11.34}, {'connected_gene': 'LOC100419831', 'score': 11.0}, {'connected_gene': 'SWSAP1', 'score': 10.83}, {'connected_gene': 'ZNF562', 'score': 10.63}, {'connected_gene': 'ZNF426', 'score': 10.37}, {'connected_gene': 'S1PR2', 'score': 10.0}]
chr19	GH19I010870	10870449	10873566	2.47	[{'connected_gene': 'CARM1', 'score': 554.1}, {'connected_gene': 'ZNF439', 'score': 22.1}, {'connected_gene': 'ZNF627', 'score': 20.58}, {'connected_gene': 'RAVER1', 'score': 20.42}, {'connected_gene': 'HNRNPA1P10', 'score': 18.74}, {'connected_gene': 'KRI1', 'score': 14.99}, {'connected_gene': 'ILF3', 'score': 14.08}, {'connected_gene': 'ZNF491', 'score': 12.83}, {'connected_gene': 'ZNF441', 'score': 12.51}, {'connected_gene': 'PRKCSH', 'score': 12.41}, {'connected_gene': 'EIF3G', 'score': 11.31}, {'connected_gene': 'SWSAP1', 'score': 10.83}, {'connected_gene': 'SMARCA4', 'score': 10.58}, {'connected_gene': 'S1PR2', 'score': 9.95}, {'connected_gene': 'PDE4A', 'score': 1.64}, {'connected_gene': 'PIR43209', 'score': 0.23}]