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
ENST00000342376	[[55249979, 55250044], [55250952, 55250988], [55253425, 55253725], [55255242, 55255536], [55258786, 55258837], [55263100, 55263205], [55263667, 55263720], [55263818, 55264504]]	[[55250010, 55250044], [55250952, 55250988], [55253425, 55253725], [55255242, 55255536], [55258786, 55258837], [55263100, 55263205], [55263667, 55263720], [55263818, 55263971]]
ENST00000434419	[[55249981, 55250044], [55250952, 55250988], [55253425, 55253725], [55255242, 55255536], [55275342, 55275393], [55294373, 55294475], [55294937, 55294990], [55295088, 55295776]]	[[55250010, 55250044], [55250952, 55250988], [55253425, 55253725], [55255242, 55255536], [55275342, 55275393], [55294373, 55294475], [55294937, 55294990], [55295088, 55295265]]
NM_015868	[[55249973, 55250044], [55250952, 55250988], [55253425, 55253725], [55255242, 55255536], [55258786, 55258837], [55263100, 55263205], [55263667, 55263720], [55263818, 55264504]]	[[55250010, 55250044], [55250952, 55250988], [55253425, 55253725], [55255242, 55255536], [55258786, 55258837], [55263100, 55263205], [55263667, 55263720], [55263818, 55263971]]

Promoter

Chrom	Start	End	Description
chr19	55249969	55249987	CAGE_peak_1_at_KIR2DL3_5end,CAGE_peak_1_at_KIR2DS2_5end
chr19	55249989	55250002	CAGE_peak_2_at_KIR2DL3_5end,CAGE_peak_2_at_KIR2DS2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I054695	54695801	54698000	0.75	[{'connected_gene': 'LILRP1', 'score': 550.77}, {'connected_gene': 'KIR3DL3', 'score': 12.26}, {'connected_gene': 'KIR2DL3', 'score': 12.23}, {'connected_gene': 'KIR2DL4', 'score': 12.09}, {'connected_gene': 'KIR3DL1', 'score': 12.08}, {'connected_gene': 'KIR3DX1', 'score': 10.84}, {'connected_gene': 'GP6', 'score': 10.04}, {'connected_gene': 'ENSG00000228790', 'score': 0.44}]
chr19	GH19I054738	54738485	54738544	0.5	[{'connected_gene': 'KIR2DL3', 'score': 550.77}, {'connected_gene': 'ENSG00000215765', 'score': 0.39}, {'connected_gene': 'KIR2DP1', 'score': 0.37}]
chr19	GH19I054747	54747178	54748400	0.52	[{'connected_gene': 'KIR2DL3', 'score': 0.44}, {'connected_gene': 'KIR2DP1', 'score': 0.44}, {'connected_gene': 'ENSG00000215765', 'score': 0.34}]
chr19	GH19I054792	54792401	54793400	0.38	[{'connected_gene': 'KIR2DL3', 'score': 11.57}, {'connected_gene': 'KIR3DL1', 'score': 11.33}, {'connected_gene': 'KIR3DL3', 'score': 11.2}, {'connected_gene': 'NLRP2', 'score': 10.98}, {'connected_gene': 'NLRP7', 'score': 10.98}, {'connected_gene': 'ENSG00000243494', 'score': 10.97}, {'connected_gene': 'KIR3DX1', 'score': 10.09}, {'connected_gene': 'EPS8L1', 'score': 9.88}, {'connected_gene': 'RDH13', 'score': 9.88}, {'connected_gene': 'KIR3DP1', 'score': 0.44}, {'connected_gene': 'KIR2DL4', 'score': 0.39}, {'connected_gene': 'ENSG00000215765', 'score': 0.2}]
chr19	GH19I054873	54873567	54878800	1.5	[{'connected_gene': 'FCAR', 'score': 582.55}, {'connected_gene': 'LILRA2', 'score': 30.18}, {'connected_gene': 'KIR2DS4', 'score': 20.59}, {'connected_gene': 'LILRA1', 'score': 12.69}, {'connected_gene': 'NLRP2', 'score': 11.25}, {'connected_gene': 'NLRP7', 'score': 11.23}, {'connected_gene': 'ENSG00000243494', 'score': 11.22}, {'connected_gene': 'KIR2DL3', 'score': 10.98}, {'connected_gene': 'EPS8L1', 'score': 10.74}, {'connected_gene': 'RDH13', 'score': 10.74}, {'connected_gene': 'TNNT1', 'score': 10.31}, {'connected_gene': 'ENSG00000268734', 'score': 10.22}, {'connected_gene': 'KIR3DL2', 'score': 8.78}, {'connected_gene': 'LILRB1', 'score': 6.32}, {'connected_gene': 'PPP1R12C', 'score': 4.99}, {'connected_gene': 'TMEM150B', 'score': 3.84}, {'connected_gene': 'PPP6R1', 'score': 3.29}, {'connected_gene': 'LILRB4', 'score': 2.83}, {'connected_gene': 'LENG8', 'score': 1.76}]
chr19	GH19I054660	54660193	54664400	1.65	[{'connected_gene': 'LILRB4', 'score': 564.55}, {'connected_gene': 'FCAR', 'score': 14.54}, {'connected_gene': 'LAIR1', 'score': 13.61}, {'connected_gene': 'LILRB1', 'score': 13.55}, {'connected_gene': 'KIR3DX1', 'score': 11.3}, {'connected_gene': 'LILRB2', 'score': 10.51}, {'connected_gene': 'KIR2DL3', 'score': 10.44}, {'connected_gene': 'LILRA5', 'score': 9.83}, {'connected_gene': 'LILRB3', 'score': 7.75}, {'connected_gene': 'LILRA1', 'score': 6.52}, {'connected_gene': 'LILRA2', 'score': 6.26}, {'connected_gene': 'PPP1R12C', 'score': 2.75}, {'connected_gene': 'LENG8', 'score': 2.31}, {'connected_gene': 'LAIR2', 'score': 1.98}, {'connected_gene': 'LILRA6', 'score': 1.84}, {'connected_gene': 'KIR3DL3', 'score': 1.46}, {'connected_gene': 'ENSG00000225370', 'score': 0.44}, {'connected_gene': 'ENSG00000237323', 'score': 0.39}]
chr19	GH19I055029	55029051	55029190	0.57	[{'connected_gene': 'ENSG00000267265', 'score': 16.95}, {'connected_gene': 'SHISA7', 'score': 2.36}, {'connected_gene': 'KIR2DL3', 'score': 1.47}, {'connected_gene': 'NCR1', 'score': 1.4}, {'connected_gene': 'GP6', 'score': 0.44}, {'connected_gene': 'ENSG00000267149', 'score': 0.34}]