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
ENST00000291823	[[40885177, 40885676], [40886229, 40887075], [40889689, 40890046], [40895344, 40896094]]	[[40885493, 40885676], [40886229, 40887075], [40889689, 40890046], [40895344, 40895809]]
NM_144685	[[40885177, 40885676], [40886229, 40887075], [40889689, 40890046], [40895344, 40896128]]	[[40885493, 40885676], [40886229, 40887075], [40889689, 40890046], [40895344, 40895809]]

Promoter

Chrom	Start	End	Description
chr19	40896081	40896093	CAGE_peak_1_at_HIPK4_5end
chr19	40896096	40896107	CAGE_peak_2_at_HIPK4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I040625	40625656	40626086	0.69	[{'connected_gene': 'SHKBP1', 'score': 24.7}, {'connected_gene': 'NUMBL', 'score': 10.54}, {'connected_gene': 'SERTAD3', 'score': 10.19}, {'connected_gene': 'SERTAD1', 'score': 10.18}, {'connected_gene': 'HIPK4', 'score': 9.59}, {'connected_gene': 'TTC9B', 'score': 9.27}, {'connected_gene': 'GC19M040606', 'score': 0.37}, {'connected_gene': 'GC19P040651', 'score': 0.31}, {'connected_gene': 'LTBP4', 'score': 0.29}]
chr19	GH19I040619	40619526	40620327	0.49	[{'connected_gene': 'SHKBP1', 'score': 24.38}, {'connected_gene': 'NUMBL', 'score': 10.53}, {'connected_gene': 'SERTAD3', 'score': 10.19}, {'connected_gene': 'SERTAD1', 'score': 10.18}, {'connected_gene': 'HIPK4', 'score': 9.59}, {'connected_gene': 'TTC9B', 'score': 9.27}, {'connected_gene': 'ZNF546', 'score': 4.67}, {'connected_gene': 'GC19M040606', 'score': 0.39}, {'connected_gene': 'LTBP4', 'score': 0.31}, {'connected_gene': 'GC19P040651', 'score': 0.29}]
chr19	GH19I040639	40639515	40642557	0.95	[{'connected_gene': 'NUMBL', 'score': 11.18}, {'connected_gene': 'SHKBP1', 'score': 11.17}, {'connected_gene': 'RNU6-195P', 'score': 11.14}, {'connected_gene': 'SNRPA', 'score': 10.76}, {'connected_gene': 'C19orf54', 'score': 10.76}, {'connected_gene': 'SERTAD3', 'score': 10.36}, {'connected_gene': 'SERTAD1', 'score': 10.36}, {'connected_gene': 'ENSG00000206925', 'score': 10.13}, {'connected_gene': 'C19orf47', 'score': 10.13}, {'connected_gene': 'PLD3', 'score': 10.13}, {'connected_gene': 'AXL', 'score': 9.79}, {'connected_gene': 'HIPK4', 'score': 9.64}, {'connected_gene': 'CYP2F1', 'score': 9.59}, {'connected_gene': 'ITPKC', 'score': 5.98}, {'connected_gene': 'LINC01480', 'score': 5.42}, {'connected_gene': 'EGLN2', 'score': 5.16}, {'connected_gene': 'GC19P040651', 'score': 0.39}, {'connected_gene': 'GC19M040606', 'score': 0.29}]
chr19	GH19I040360	40360086	40361908	1.1	[{'connected_gene': 'SNRPA', 'score': 31.34}, {'connected_gene': 'ENSG00000269843', 'score': 22.16}, {'connected_gene': 'HNRNPUL1', 'score': 21.27}, {'connected_gene': 'EID2B', 'score': 13.55}, {'connected_gene': 'AXL', 'score': 13.0}, {'connected_gene': 'SPTBN4', 'score': 12.95}, {'connected_gene': 'RPS16', 'score': 10.98}, {'connected_gene': 'FBL', 'score': 10.95}, {'connected_gene': 'ITPKC', 'score': 10.93}, {'connected_gene': 'PSMC4', 'score': 10.03}, {'connected_gene': 'LTBP4', 'score': 9.71}, {'connected_gene': 'MAP3K10', 'score': 7.76}, {'connected_gene': 'HIPK4', 'score': 6.28}, {'connected_gene': 'PLD3', 'score': 4.62}, {'connected_gene': 'ENSG00000279759', 'score': 0.44}, {'connected_gene': 'MIR6796', 'score': 0.44}]
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	GH19I040190	40190074	40192401	2.28	[{'connected_gene': 'MAP3K10', 'score': 559.26}, {'connected_gene': 'ZNF780B', 'score': 45.96}, {'connected_gene': 'NUMBL', 'score': 37.89}, {'connected_gene': 'CYP2G1P', 'score': 31.54}, {'connected_gene': 'EID2B', 'score': 28.78}, {'connected_gene': 'SUPT5H', 'score': 18.22}, {'connected_gene': 'AKT2', 'score': 15.17}, {'connected_gene': 'PAF1', 'score': 13.11}, {'connected_gene': 'TTC9B', 'score': 12.48}, {'connected_gene': 'CNTD2', 'score': 12.17}, {'connected_gene': 'ENSG00000269843', 'score': 12.14}, {'connected_gene': 'ZNF546', 'score': 12.05}, {'connected_gene': 'SNRPA', 'score': 11.84}, {'connected_gene': 'ZNF780A', 'score': 10.88}, {'connected_gene': 'RN7SL566P', 'score': 10.68}, {'connected_gene': 'PSMC4', 'score': 10.67}, {'connected_gene': 'FBL', 'score': 10.47}, {'connected_gene': 'HIPK4', 'score': 10.42}, {'connected_gene': 'ENSG00000206925', 'score': 10.1}, {'connected_gene': 'C19orf47', 'score': 10.1}, {'connected_gene': 'PLD3', 'score': 10.1}, {'connected_gene': 'FCGBP', 'score': 5.32}, {'connected_gene': 'SERTAD1', 'score': 2.17}, {'connected_gene': 'GC19M039966', 'score': 0.31}]
chr19	GH19I040441	40441548	40446949	2.33	[{'connected_gene': 'SERTAD3', 'score': 587.86}, {'connected_gene': 'ENSG00000268366', 'score': 550.77}, {'connected_gene': 'LOC105372489', 'score': 550.77}, {'connected_gene': 'CCDC97', 'score': 36.2}, {'connected_gene': 'HNRNPUL1', 'score': 34.62}, {'connected_gene': 'SNRPA', 'score': 26.04}, {'connected_gene': 'ZNF780B', 'score': 24.77}, {'connected_gene': 'ENSG00000269843', 'score': 21.48}, {'connected_gene': 'FBL', 'score': 21.18}, {'connected_gene': 'CYP2F2P', 'score': 20.04}, {'connected_gene': 'PSMC4', 'score': 19.43}, {'connected_gene': 'EID2B', 'score': 13.55}, {'connected_gene': 'SPTBN4', 'score': 13.15}, {'connected_gene': 'HIPK4', 'score': 11.43}, {'connected_gene': 'ITPKC', 'score': 10.94}, {'connected_gene': 'C19orf47', 'score': 10.9}, {'connected_gene': 'PLD3', 'score': 10.9}, {'connected_gene': 'ENSG00000206925', 'score': 10.89}, {'connected_gene': 'ZNF780A', 'score': 9.93}, {'connected_gene': 'GC19M040397', 'score': 0.14}]
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	GH19I040622	40622539	40624519	1.39	[{'connected_gene': 'ZNF780B', 'score': 28.48}, {'connected_gene': 'SHKBP1', 'score': 24.49}, {'connected_gene': 'NUMBL', 'score': 21.74}, {'connected_gene': 'CYP2G1P', 'score': 11.08}, {'connected_gene': 'ZNF780A', 'score': 10.66}, {'connected_gene': 'ZNF546', 'score': 10.32}, {'connected_gene': 'SERTAD3', 'score': 10.19}, {'connected_gene': 'SERTAD1', 'score': 10.18}, {'connected_gene': 'HIPK4', 'score': 9.59}, {'connected_gene': 'TTC9B', 'score': 9.27}, {'connected_gene': 'GC19M040606', 'score': 0.37}, {'connected_gene': 'GC19P040651', 'score': 0.31}, {'connected_gene': 'LTBP4', 'score': 0.29}]
chr19	GH19I040139	40139914	40140063	0.84	[{'connected_gene': 'TTC9B', 'score': 11.93}, {'connected_gene': 'CNTD2', 'score': 11.92}, {'connected_gene': 'HIPK4', 'score': 10.48}, {'connected_gene': 'ENSG00000206925', 'score': 9.54}, {'connected_gene': 'PLD3', 'score': 9.54}, {'connected_gene': 'C19orf47', 'score': 9.54}, {'connected_gene': 'GC19M040148', 'score': 0.39}, {'connected_gene': 'VN1R96P', 'score': 0.37}, {'connected_gene': 'GC19M039966', 'score': 0.34}]
chr19	GH19I040219	40219314	40220828	1.41	[{'connected_gene': 'TTC9B', 'score': 550.77}, {'connected_gene': 'ENSG00000269843', 'score': 62.93}, {'connected_gene': 'SNRPA', 'score': 57.57}, {'connected_gene': 'FBL', 'score': 23.3}, {'connected_gene': 'ITPKC', 'score': 19.09}, {'connected_gene': 'RPS16', 'score': 18.96}, {'connected_gene': 'ZNF780A', 'score': 18.68}, {'connected_gene': 'ZNF780B', 'score': 18.29}, {'connected_gene': 'PLEKHG2', 'score': 12.88}, {'connected_gene': 'AKT2', 'score': 12.2}, {'connected_gene': 'MAP3K10', 'score': 12.06}, {'connected_gene': 'RN7SL566P', 'score': 11.36}, {'connected_gene': 'ENSG00000268366', 'score': 10.83}, {'connected_gene': 'SERTAD3', 'score': 10.3}, {'connected_gene': 'PSMC4', 'score': 10.04}, {'connected_gene': 'COQ8B', 'score': 9.91}, {'connected_gene': 'PLD3', 'score': 9.86}, {'connected_gene': 'HIPK4', 'score': 4.8}, {'connected_gene': 'CNTD2', 'score': 0.44}]
chr19	GH19I040390	40390171	40390230	0.68	[{'connected_gene': 'HIPK4', 'score': 550.77}, {'connected_gene': 'MIR6796', 'score': 0.34}]
chr19	GH19I040304	40304054	40304103	0.46	[{'connected_gene': 'ENSG00000206925', 'score': 11.72}, {'connected_gene': 'PLD3', 'score': 11.71}, {'connected_gene': 'C19orf47', 'score': 11.71}, {'connected_gene': 'SERTAD1', 'score': 11.37}, {'connected_gene': 'SERTAD3', 'score': 11.36}, {'connected_gene': 'HIPK4', 'score': 11.3}, {'connected_gene': 'TTC9B', 'score': 10.92}, {'connected_gene': 'CNTD2', 'score': 10.91}, {'connected_gene': 'SHKBP1', 'score': 10.82}, {'connected_gene': 'GC19M040298', 'score': 0.77}, {'connected_gene': 'ENSG00000207281', 'score': 0.28}]
chr19	GH19I040302	40302294	40302443	0.49	[{'connected_gene': 'ENSG00000206925', 'score': 11.72}, {'connected_gene': 'PLD3', 'score': 11.69}, {'connected_gene': 'C19orf47', 'score': 11.69}, {'connected_gene': 'SERTAD1', 'score': 11.37}, {'connected_gene': 'SERTAD3', 'score': 11.36}, {'connected_gene': 'HIPK4', 'score': 11.3}, {'connected_gene': 'TTC9B', 'score': 10.93}, {'connected_gene': 'CNTD2', 'score': 10.91}, {'connected_gene': 'SHKBP1', 'score': 10.82}, {'connected_gene': 'GC19M040298', 'score': 0.77}, {'connected_gene': 'ENSG00000207281', 'score': 0.28}]
chr19	GH19I040229	40229554	40229703	0.8	[{'connected_gene': 'ENSG00000206925', 'score': 10.16}, {'connected_gene': 'PLD3', 'score': 10.15}, {'connected_gene': 'C19orf47', 'score': 10.15}, {'connected_gene': 'HIPK4', 'score': 9.86}, {'connected_gene': 'CNTD2', 'score': 0.77}, {'connected_gene': 'PIR38327', 'score': 0.44}]
chr19	GH19I040157	40157154	40157303	0.2	[{'connected_gene': 'PIR31992', 'score': 550.77}, {'connected_gene': 'GC19M040160', 'score': 550.77}, {'connected_gene': 'TTC9B', 'score': 11.77}, {'connected_gene': 'CNTD2', 'score': 11.76}, {'connected_gene': 'HIPK4', 'score': 10.45}, {'connected_gene': 'GC19M040148', 'score': 0.77}, {'connected_gene': 'GC19M039966', 'score': 0.44}]