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
ENST00000291825	[[40899674, 40904723], [40909612, 40909769], [40913812, 40913938], [40914064, 40914163], [40914246, 40914290], [40919244, 40919271]]	[[40904463, 40904723], [40909612, 40909769], [40913812, 40913839]]
ENST00000324001	[[40899674, 40903877], [40904526, 40904723], [40909612, 40909769], [40913812, 40913938], [40914064, 40914163], [40914246, 40914290], [40919244, 40919273]]	[[40899872, 40903877], [40904526, 40904723], [40909612, 40909769], [40913812, 40913839]]
ENST00000599513	[[40913363, 40913626], [40913812, 40913938], [40914064, 40914150]]	None
NM_020956	[[40899670, 40904723], [40909612, 40909769], [40913812, 40913938], [40914064, 40914163], [40914246, 40914290], [40919244, 40919271]]	[[40904463, 40904723], [40909612, 40909769], [40913812, 40913839]]
NM_181882	[[40899670, 40903877], [40904526, 40904723], [40909612, 40909769], [40913812, 40913938], [40914064, 40914163], [40914246, 40914290], [40919244, 40919271]]	[[40899872, 40903877], [40904526, 40904723], [40909612, 40909769], [40913812, 40913839]]

Promoter

Chrom	Start	End	Description
chr19	40910179	40910215	CAGE_peak_1_at_PRX_5end
chr19	40919278	40919294	CAGE_peak_2_at_PRX_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I040225	40225519	40227023	1.61	[{'connected_gene': 'CNTD2', 'score': 550.77}, {'connected_gene': 'AKT2', 'score': 15.24}, {'connected_gene': 'PRX', 'score': 12.45}, {'connected_gene': 'ENSG00000269843', 'score': 12.14}, {'connected_gene': 'SNRPA', 'score': 11.84}, {'connected_gene': 'ZNF780A', 'score': 10.84}, {'connected_gene': 'PLD3', 'score': 10.71}, {'connected_gene': 'RN7SL566P', 'score': 10.68}, {'connected_gene': 'PSMC4', 'score': 10.66}, {'connected_gene': 'FBL', 'score': 10.47}, {'connected_gene': 'C19orf47', 'score': 7.58}, {'connected_gene': 'TTC9B', 'score': 0.44}]
chr19	GH19I040415	40415678	40418505	1.7	[{'connected_gene': 'SNRPA', 'score': 26.52}, {'connected_gene': 'CCDC97', 'score': 25.96}, {'connected_gene': 'ENSG00000269843', 'score': 24.34}, {'connected_gene': 'HNRNPUL1', 'score': 18.27}, {'connected_gene': 'SERTAD3', 'score': 16.5}, {'connected_gene': 'PRX', 'score': 13.57}, {'connected_gene': 'FBL', 'score': 13.02}, {'connected_gene': 'AKT2', 'score': 11.29}, {'connected_gene': 'COQ8B', 'score': 10.86}, {'connected_gene': 'ZNF780A', 'score': 10.82}, {'connected_gene': 'ITPKC', 'score': 10.68}, {'connected_gene': 'ZNF780B', 'score': 9.7}, {'connected_gene': 'SHKBP1', 'score': 2.6}, {'connected_gene': 'EGLN2', 'score': 2.07}, {'connected_gene': 'C19orf54', 'score': 1.3}, {'connected_gene': 'SERTAD1', 'score': 0.44}, {'connected_gene': 'GC19M040397', 'score': 0.12}]
chr19	GH19I040631	40631934	40634933	1.24	[{'connected_gene': 'SNRPA', 'score': 27.54}, {'connected_gene': 'ZNF780B', 'score': 19.98}, {'connected_gene': 'HNRNPUL1', 'score': 17.55}, {'connected_gene': 'CCDC97', 'score': 15.08}, {'connected_gene': 'FBL', 'score': 14.12}, {'connected_gene': 'SPTBN4', 'score': 14.03}, {'connected_gene': 'ENSG00000269843', 'score': 13.02}, {'connected_gene': 'ZNF546', 'score': 12.0}, {'connected_gene': 'CYP2G1P', 'score': 11.45}, {'connected_gene': 'RNU6-195P', 'score': 11.04}, {'connected_gene': 'ENSG00000268366', 'score': 10.84}, {'connected_gene': 'SERTAD3', 'score': 10.31}, {'connected_gene': 'COQ8B', 'score': 10.05}, {'connected_gene': 'ITPKC', 'score': 10.03}, {'connected_gene': 'TTC9B', 'score': 9.72}, {'connected_gene': 'CNTD2', 'score': 9.65}, {'connected_gene': 'PRX', 'score': 4.5}, {'connected_gene': 'GC19P040651', 'score': 0.37}, {'connected_gene': 'GC19M040606', 'score': 0.31}]
chr19	GH19I040542	40542212	40543251	0.57	[{'connected_gene': 'PRX', 'score': 4.98}, {'connected_gene': 'GC19M040397', 'score': 0.39}, {'connected_gene': 'SPTBN4', 'score': 0.18}]
chr19	GH19I040392	40392179	40393970	0.93	[{'connected_gene': 'PRX', 'score': 14.96}, {'connected_gene': 'SERTAD3', 'score': 12.75}, {'connected_gene': 'CLC', 'score': 4.74}, {'connected_gene': 'PIR49336', 'score': 0.77}, {'connected_gene': 'HIPK4', 'score': 0.77}]
chr19	GH19I040413	40413142	40414003	1.45	[{'connected_gene': 'PRX', 'score': 562.54}, {'connected_gene': 'PIR52826', 'score': 0.37}, {'connected_gene': 'GC19M040397', 'score': 0.12}]
chr19	GH19I040408	40408001	40408600	0.69	[{'connected_gene': 'PRX', 'score': 0.44}, {'connected_gene': 'PIR52826', 'score': 0.39}, {'connected_gene': 'GC19M040397', 'score': 0.11}]
chr19	GH19I039969	39969010	39972613	2.32	[{'connected_gene': 'PSMC4', 'score': 561.37}, {'connected_gene': 'GC19M039967', 'score': 550.77}, {'connected_gene': 'ZNF780A', 'score': 39.64}, {'connected_gene': 'FCGBP', 'score': 26.58}, {'connected_gene': 'AKT2', 'score': 25.27}, {'connected_gene': 'ENSG00000269843', 'score': 21.97}, {'connected_gene': 'SNRPA', 'score': 11.84}, {'connected_gene': 'RN7SL566P', 'score': 10.69}, {'connected_gene': 'FBL', 'score': 10.54}, {'connected_gene': 'FBXO17', 'score': 9.8}, {'connected_gene': 'PRX', 'score': 7.58}, {'connected_gene': 'SUPT5H', 'score': 5.51}, {'connected_gene': 'ENSG00000268366', 'score': 5.07}, {'connected_gene': 'ENSG00000269069', 'score': 4.59}, {'connected_gene': 'PIR61583', 'score': 0.77}, {'connected_gene': 'GC19M039966', 'score': 0.08}]
chr19	GH19I040420	40420294	40426860	2.76	[{'connected_gene': 'SERTAD1', 'score': 552.11}, {'connected_gene': 'CCDC97', 'score': 25.96}, {'connected_gene': 'SERTAD3', 'score': 22.15}, {'connected_gene': 'ITPKC', 'score': 19.28}, {'connected_gene': 'HNRNPUL1', 'score': 18.27}, {'connected_gene': 'SNRPA', 'score': 17.11}, {'connected_gene': 'ENSG00000269843', 'score': 15.23}, {'connected_gene': 'FBL', 'score': 13.02}, {'connected_gene': 'ZNF780B', 'score': 11.94}, {'connected_gene': 'AKT2', 'score': 11.29}, {'connected_gene': 'COQ8B', 'score': 10.86}, {'connected_gene': 'ZNF780A', 'score': 10.83}, {'connected_gene': 'PRX', 'score': 6.34}, {'connected_gene': 'ENSG00000277453', 'score': 0.77}, {'connected_gene': 'GC19M040397', 'score': 0.13}]
chr19	GH19I040409	40409710	40412407	1.15	[{'connected_gene': 'SERTAD3', 'score': 15.75}, {'connected_gene': 'PRX', 'score': 0.77}, {'connected_gene': 'PIR52826', 'score': 0.39}, {'connected_gene': 'GC19M040397', 'score': 0.11}]
chr19	GH19I040398	40398272	40399679	0.89	[{'connected_gene': 'SERTAD3', 'score': 10.89}, {'connected_gene': 'PIR52826', 'score': 0.77}, {'connected_gene': 'PRX', 'score': 0.37}, {'connected_gene': 'GC19M040397', 'score': 0.1}]
chr19	GH19I040365	40365351	40368601	1.9	[{'connected_gene': 'PLD3', 'score': 555.77}, {'connected_gene': 'ENSG00000206925', 'score': 11.61}, {'connected_gene': 'SERTAD1', 'score': 11.06}, {'connected_gene': 'SERTAD3', 'score': 11.02}, {'connected_gene': 'TTC9B', 'score': 9.84}, {'connected_gene': 'HIPK4', 'score': 8.17}, {'connected_gene': 'PRX', 'score': 6.73}, {'connected_gene': 'MIR6796', 'score': 0.77}, {'connected_gene': 'ENSG00000279759', 'score': 0.39}]
chr19	GH19I040347	40347472	40349696	2.12	[{'connected_gene': 'PLD3', 'score': 563.96}, {'connected_gene': 'C19orf47', 'score': 560.09}, {'connected_gene': 'ZNF780B', 'score': 114.59}, {'connected_gene': 'SNRPA', 'score': 76.97}, {'connected_gene': 'HNRNPUL1', 'score': 68.59}, {'connected_gene': 'CYP2G1P', 'score': 68.09}, {'connected_gene': 'ENSG00000269843', 'score': 62.33}, {'connected_gene': 'ZNF780A', 'score': 55.74}, {'connected_gene': 'SUPT5H', 'score': 39.8}, {'connected_gene': 'CCDC97', 'score': 35.62}, {'connected_gene': 'COQ8B', 'score': 33.74}, {'connected_gene': 'NUMBL', 'score': 30.9}, {'connected_gene': 'FBL', 'score': 29.9}, {'connected_gene': 'ZNF546', 'score': 20.59}, {'connected_gene': 'PAF1', 'score': 20.56}, {'connected_gene': 'RN7SL566P', 'score': 20.15}, {'connected_gene': 'AKT2', 'score': 19.42}, {'connected_gene': 'EID2B', 'score': 18.16}, {'connected_gene': 'PRX', 'score': 12.68}, {'connected_gene': 'RPS16', 'score': 10.98}, {'connected_gene': 'PSMC4', 'score': 10.95}, {'connected_gene': 'ITPKC', 'score': 10.93}, {'connected_gene': 'PLEKHG2', 'score': 10.71}, {'connected_gene': 'CYP2T1P', 'score': 10.53}, {'connected_gene': 'CYP2F2P', 'score': 10.48}, {'connected_gene': 'EID2', 'score': 10.26}, {'connected_gene': 'ENSG00000279759', 'score': 0.44}]
chr19	GH19I040461	40461195	40462414	1.07	[{'connected_gene': 'CYP2G1P', 'score': 22.99}, {'connected_gene': 'SERTAD3', 'score': 17.26}, {'connected_gene': 'SERTAD1', 'score': 12.75}, {'connected_gene': 'PRX', 'score': 12.48}, {'connected_gene': 'ZNF546', 'score': 12.01}, {'connected_gene': 'PLD3', 'score': 10.98}, {'connected_gene': 'C19orf47', 'score': 10.98}, {'connected_gene': 'ENSG00000206925', 'score': 10.97}, {'connected_gene': 'EID2', 'score': 10.26}, {'connected_gene': 'ZNF780B', 'score': 9.81}, {'connected_gene': 'EID2B', 'score': 9.74}, {'connected_gene': 'BLVRB', 'score': 0.77}, {'connected_gene': 'ENSG00000277510', 'score': 0.39}, {'connected_gene': 'GC19M040397', 'score': 0.16}]
chr19	GH19I040277	40277358	40287796	2.51	[{'connected_gene': 'AKT2', 'score': 572.34}, {'connected_gene': 'MIR641', 'score': 550.77}, {'connected_gene': 'ZNF780B', 'score': 54.73}, {'connected_gene': 'SUPT5H', 'score': 23.18}, {'connected_gene': 'COQ8B', 'score': 22.62}, {'connected_gene': 'SNRPA', 'score': 22.06}, {'connected_gene': 'NUMBL', 'score': 21.47}, {'connected_gene': 'ZNF780A', 'score': 20.58}, {'connected_gene': 'ENSG00000269843', 'score': 20.15}, {'connected_gene': 'MAP3K10', 'score': 19.98}, {'connected_gene': 'CYP2G1P', 'score': 15.86}, {'connected_gene': 'PRX', 'score': 12.5}, {'connected_gene': 'HNRNPUL1', 'score': 12.1}, {'connected_gene': 'PAF1', 'score': 11.99}, {'connected_gene': 'C19orf47', 'score': 10.99}, {'connected_gene': 'RN7SL566P', 'score': 10.51}, {'connected_gene': 'ZNF546', 'score': 10.39}, {'connected_gene': 'PSMC4', 'score': 10.03}, {'connected_gene': 'PLD3', 'score': 5.73}, {'connected_gene': 'GC19P040291', 'score': 0.77}, {'connected_gene': 'ENSG00000205041', 'score': 0.44}]
chr19	GH19I040403	40403001	40405228	1.43	[{'connected_gene': 'HNRNPUL1', 'score': 30.04}, {'connected_gene': 'ZNF780B', 'score': 27.95}, {'connected_gene': 'SNRPA', 'score': 27.74}, {'connected_gene': 'ENSG00000269843', 'score': 26.12}, {'connected_gene': 'PLEKHG2', 'score': 20.08}, {'connected_gene': 'CCDC97', 'score': 14.24}, {'connected_gene': 'FBL', 'score': 13.02}, {'connected_gene': 'AKT2', 'score': 11.3}, {'connected_gene': 'COQ8B', 'score': 10.86}, {'connected_gene': 'ZNF780A', 'score': 10.83}, {'connected_gene': 'ITPKC', 'score': 10.68}, {'connected_gene': 'NUMBL', 'score': 10.05}, {'connected_gene': 'SUPT5H', 'score': 9.77}, {'connected_gene': 'PRX', 'score': 5.6}, {'connected_gene': 'PIR52826', 'score': 0.44}, {'connected_gene': 'GC19M040397', 'score': 0.11}]