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
ENST00000595483	[[40953695, 40953953], [40964061, 40964151], [40964287, 40964452], [40971516, 40971652]]	[[40953795, 40953953], [40964061, 40964151], [40964287, 40964452], [40971516, 40971595]]
ENST00000263368	[[40953695, 40953953], [40957270, 40957399], [40964061, 40964151], [40964287, 40964452], [40971516, 40971747]]	[[40953795, 40953953], [40957270, 40957399], [40964061, 40964151], [40964287, 40964452], [40971516, 40971595]]
ENST00000601346	[[40953709, 40953953], [40957270, 40957399], [40964061, 40964364]]	None
ENST00000597870	[[40953727, 40953953], [40957270, 40957399], [40963405, 40964151], [40964287, 40964452], [40971516, 40971642]]	[[40963930, 40964151], [40964287, 40964452], [40971516, 40971595]]
NM_000713	[[40953690, 40953953], [40957270, 40957399], [40964061, 40964151], [40964287, 40964452], [40971516, 40971725]]	[[40953795, 40953953], [40957270, 40957399], [40964061, 40964151], [40964287, 40964452], [40971516, 40971595]]

Promoter

Chrom	Start	End	Description
chr19	40971610	40971624	CAGE_peak_3_at_BLVRB_5end
chr19	40971643	40971664	CAGE_peak_1_at_BLVRB_5end
chr19	40971667	40971722	CAGE_peak_2_at_BLVRB_5end
chr19	40972117	40972122	CAGE_peak_4_at_BLVRB_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I040830	40830468	40835105	1.49	[{'connected_gene': 'SNRPA', 'score': 49.21}, {'connected_gene': 'ENSG00000269843', 'score': 44.87}, {'connected_gene': 'HNRNPUL1', 'score': 40.25}, {'connected_gene': 'ZNF780B', 'score': 32.92}, {'connected_gene': 'FBL', 'score': 23.27}, {'connected_gene': 'ITPKC', 'score': 22.9}, {'connected_gene': 'CYP2G1P', 'score': 20.9}, {'connected_gene': 'ZNF546', 'score': 20.6}, {'connected_gene': 'CCDC97', 'score': 15.09}, {'connected_gene': 'COQ8B', 'score': 13.03}, {'connected_gene': 'RNU6-195P', 'score': 11.59}, {'connected_gene': 'NUMBL', 'score': 11.31}, {'connected_gene': 'ENSG00000268366', 'score': 10.81}, {'connected_gene': 'SERTAD3', 'score': 10.28}, {'connected_gene': 'PSMC4', 'score': 10.0}, {'connected_gene': 'CYP2T1P', 'score': 4.94}, {'connected_gene': 'C19orf54', 'score': 4.75}, {'connected_gene': 'CYP2B7P', 'score': 4.61}, {'connected_gene': 'BLVRB', 'score': 4.4}, {'connected_gene': 'CYP2F2P', 'score': 0.44}, {'connected_gene': 'ENSG00000268797', 'score': 0.29}]
chr19	GH19I040462	40462952	40467472	2.38	[{'connected_gene': 'BLVRB', 'score': 552.75}, {'connected_gene': 'SPTBN4', 'score': 550.77}, {'connected_gene': 'ENSG00000269843', 'score': 87.61}, {'connected_gene': 'SNRPA', 'score': 84.29}, {'connected_gene': 'HNRNPUL1', 'score': 72.16}, {'connected_gene': 'ZNF780B', 'score': 53.2}, {'connected_gene': 'AKT2', 'score': 45.01}, {'connected_gene': 'CCDC97', 'score': 44.97}, {'connected_gene': 'FBL', 'score': 33.75}, {'connected_gene': 'SERTAD3', 'score': 31.18}, {'connected_gene': 'ZNF780A', 'score': 29.59}, {'connected_gene': 'CYP2G1P', 'score': 24.2}, {'connected_gene': 'COQ8B', 'score': 20.39}, {'connected_gene': 'ITPKC', 'score': 19.87}, {'connected_gene': 'PSMC4', 'score': 19.08}, {'connected_gene': 'SERTAD1', 'score': 11.98}, {'connected_gene': 'ENSG00000277510', 'score': 0.39}, {'connected_gene': 'GC19M040397', 'score': 0.17}]
chr19	GH19I040467	40467494	40467569	0.31	[{'connected_gene': 'SPTBN4', 'score': 550.77}, {'connected_gene': 'BLVRB', 'score': 550.77}, {'connected_gene': 'GC19M040397', 'score': 0.17}]
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	GH19I040818	40818050	40820222	1.32	[{'connected_gene': 'ZNF780B', 'score': 23.14}, {'connected_gene': 'FBL', 'score': 12.35}, {'connected_gene': 'ZNF546', 'score': 11.99}, {'connected_gene': 'CYP2G1P', 'score': 11.57}, {'connected_gene': 'SNRPA', 'score': 11.38}, {'connected_gene': 'HNRNPUL1', 'score': 10.96}, {'connected_gene': 'EGLN2', 'score': 8.71}, {'connected_gene': 'C19orf54', 'score': 8.52}, {'connected_gene': 'ITPKC', 'score': 5.69}, {'connected_gene': 'BLVRB', 'score': 4.9}, {'connected_gene': 'PIR36050', 'score': 0.77}, {'connected_gene': 'CYP2T1P', 'score': 0.44}, {'connected_gene': 'CYP2F2P', 'score': 0.44}, {'connected_gene': 'ENSG00000268797', 'score': 0.37}, {'connected_gene': 'GC19P040724', 'score': 0.16}]
chr19	GH19I041321	41321104	41329517	1.78	[{'connected_gene': 'ZNF526', 'score': 33.64}, {'connected_gene': 'HNRNPUL1', 'score': 30.77}, {'connected_gene': 'SNRPA', 'score': 23.98}, {'connected_gene': 'ENSG00000269843', 'score': 22.66}, {'connected_gene': 'CCDC97', 'score': 20.45}, {'connected_gene': 'TGFB1', 'score': 17.65}, {'connected_gene': 'CIC', 'score': 11.09}, {'connected_gene': 'RPS19', 'score': 10.83}, {'connected_gene': 'NUMBL', 'score': 10.77}, {'connected_gene': 'COQ8B', 'score': 10.75}, {'connected_gene': 'SERTAD1', 'score': 10.49}, {'connected_gene': 'ITPKC', 'score': 10.44}, {'connected_gene': 'BLVRB', 'score': 10.12}, {'connected_gene': 'ZNF574', 'score': 9.85}, {'connected_gene': 'B9D2', 'score': 4.96}, {'connected_gene': 'CEACAM4', 'score': 2.91}, {'connected_gene': 'TMEM91', 'score': 2.46}, {'connected_gene': 'CEACAM21', 'score': 1.64}, {'connected_gene': 'CEACAM3', 'score': 1.31}, {'connected_gene': 'CYP2A13', 'score': 1.27}, {'connected_gene': 'ENSG00000255730', 'score': 0.31}]
chr19	GH19I040821	40821858	40824569	1.41	[{'connected_gene': 'PIR36050', 'score': 550.77}, {'connected_gene': 'ZNF780B', 'score': 27.85}, {'connected_gene': 'ENSG00000269843', 'score': 20.99}, {'connected_gene': 'AKT2', 'score': 12.03}, {'connected_gene': 'NUMBL', 'score': 12.01}, {'connected_gene': 'HNRNPUL1', 'score': 10.84}, {'connected_gene': 'SNRPA', 'score': 10.6}, {'connected_gene': 'PSMC4', 'score': 10.0}, {'connected_gene': 'ZNF780A', 'score': 9.84}, {'connected_gene': 'EGLN2', 'score': 7.7}, {'connected_gene': 'COQ8B', 'score': 5.49}, {'connected_gene': 'BLVRB', 'score': 4.24}, {'connected_gene': 'CYP2F2P', 'score': 0.77}, {'connected_gene': 'ENSG00000268797', 'score': 0.34}]