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
ENST00000304298	[[111782965, 111783647], [111784164, 111784817]]	[[111783553, 111783647], [111784164, 111784619]]
ENST00000537382	[[111783459, 111783647], [111784164, 111784695], [111789401, 111789574]]	[[111783553, 111783647], [111784164, 111784619]]
NM_001541	[[111783459, 111783647], [111784164, 111784817]]	[[111783553, 111783647], [111784164, 111784619]]

Promoter

Chrom	Start	End	Description
chr11	111782934	111782964	CAGE_peak_4_at_HSPB2_5end
chr11	111783450	111783475	CAGE_peak_1_at_C11orf52_5end,CAGE_peak_1_at_HSPB2-C11orf52_5end,CAGE_peak_1_at_HSPB2_5end
chr11	111783827	111783842	CAGE_peak_3_at_HSPB2_5end
chr11	111783847	111783856	CAGE_peak_8_at_HSPB2_5end
chr11	111783882	111783893	CAGE_peak_6_at_HSPB2_5end
chr11	111783968	111784029	CAGE_peak_2_at_HSPB2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I111974	111974502	111979486	2.53	[{'connected_gene': 'DIXDC1', 'score': 559.67}, {'connected_gene': 'C11orf52', 'score': 16.84}, {'connected_gene': 'PPP2R1B', 'score': 14.53}, {'connected_gene': 'CRYAB', 'score': 12.81}, {'connected_gene': 'HSPB2-C11orf52', 'score': 11.04}, {'connected_gene': 'HSPB2', 'score': 11.04}, {'connected_gene': 'SDHD', 'score': 6.42}, {'connected_gene': 'SIK2', 'score': 1.35}, {'connected_gene': 'ENSG00000255286', 'score': 0.29}, {'connected_gene': 'ENSG00000255334', 'score': 0.28}]
chr11	GH11I111934	111934176	111945953	2.7	[{'connected_gene': 'DIXDC1', 'score': 550.39}, {'connected_gene': 'PPP2R1B', 'score': 16.64}, {'connected_gene': 'SDHD', 'score': 16.26}, {'connected_gene': 'C11orf52', 'score': 11.14}, {'connected_gene': 'HSPB2-C11orf52', 'score': 11.07}, {'connected_gene': 'HSPB2', 'score': 11.07}, {'connected_gene': 'ENSG00000255292', 'score': 10.69}, {'connected_gene': 'TIMM8B', 'score': 10.69}, {'connected_gene': 'FDXACB1', 'score': 10.66}, {'connected_gene': 'C11orf1', 'score': 10.64}, {'connected_gene': 'ALG9', 'score': 10.64}, {'connected_gene': 'NKAPD1', 'score': 10.42}, {'connected_gene': 'PIH1D2', 'score': 10.42}, {'connected_gene': 'PPIHP1', 'score': 4.51}, {'connected_gene': 'IL18', 'score': 1.2}, {'connected_gene': 'ENSG00000255286', 'score': 0.44}, {'connected_gene': 'RNA5SP351', 'score': 0.39}]
chr11	GH11I111950	111949877	111950026	0.54	[{'connected_gene': 'DIXDC1', 'score': 12.39}, {'connected_gene': 'RNA5SP351', 'score': 12.39}, {'connected_gene': 'CRYAB', 'score': 11.12}, {'connected_gene': 'C11orf52', 'score': 11.1}, {'connected_gene': 'HSPB2-C11orf52', 'score': 10.88}, {'connected_gene': 'HSPB2', 'score': 10.88}, {'connected_gene': 'ENSG00000255292', 'score': 10.69}, {'connected_gene': 'SDHD', 'score': 10.69}, {'connected_gene': 'TIMM8B', 'score': 10.69}, {'connected_gene': 'FDXACB1', 'score': 10.37}, {'connected_gene': 'C11orf1', 'score': 10.36}, {'connected_gene': 'ALG9', 'score': 10.35}, {'connected_gene': 'ENSG00000255286', 'score': 0.77}, {'connected_gene': 'ENSG00000255334', 'score': 0.2}]
chr11	GH11I111949	111949637	111949786	0.6	[{'connected_gene': 'DIXDC1', 'score': 12.39}, {'connected_gene': 'RNA5SP351', 'score': 12.39}, {'connected_gene': 'CRYAB', 'score': 11.12}, {'connected_gene': 'C11orf52', 'score': 11.1}, {'connected_gene': 'HSPB2-C11orf52', 'score': 10.88}, {'connected_gene': 'HSPB2', 'score': 10.88}, {'connected_gene': 'ENSG00000255292', 'score': 10.69}, {'connected_gene': 'SDHD', 'score': 10.69}, {'connected_gene': 'TIMM8B', 'score': 10.69}, {'connected_gene': 'PPP2R1B', 'score': 10.67}, {'connected_gene': 'FDXACB1', 'score': 10.37}, {'connected_gene': 'C11orf1', 'score': 10.36}, {'connected_gene': 'ALG9', 'score': 10.35}, {'connected_gene': 'ENSG00000255286', 'score': 0.77}, {'connected_gene': 'ENSG00000255334', 'score': 0.2}]
chr11	GH11I112128	112128006	112130158	0.86	[{'connected_gene': 'BCO2', 'score': 28.11}, {'connected_gene': 'IL18', 'score': 11.38}, {'connected_gene': 'TEX12', 'score': 11.35}, {'connected_gene': 'ENSG00000255292', 'score': 11.33}, {'connected_gene': 'ENSG00000254638', 'score': 11.08}, {'connected_gene': 'SDHD', 'score': 11.08}, {'connected_gene': 'TIMM8B', 'score': 11.08}, {'connected_gene': 'NKAPD1', 'score': 10.48}, {'connected_gene': 'PIH1D2', 'score': 10.48}, {'connected_gene': 'CRYAB', 'score': 9.28}, {'connected_gene': 'HSPB2-C11orf52', 'score': 9.27}, {'connected_gene': 'HSPB2', 'score': 9.27}, {'connected_gene': 'C11orf52', 'score': 9.27}, {'connected_gene': 'DIXDC1', 'score': 8.86}]
chr11	GH11I111869	111869801	111870000	0.2	[{'connected_gene': 'ALG9', 'score': 550.77}, {'connected_gene': 'DIXDC1', 'score': 10.86}, {'connected_gene': 'HSPB2-C11orf52', 'score': 10.64}, {'connected_gene': 'HSPB2', 'score': 10.64}, {'connected_gene': 'C11orf52', 'score': 10.63}, {'connected_gene': 'CRYAB', 'score': 10.61}, {'connected_gene': 'NKAPD1', 'score': 9.57}, {'connected_gene': 'PIH1D2', 'score': 9.57}, {'connected_gene': 'GC11P111865', 'score': 0.44}, {'connected_gene': 'ENSG00000258529', 'score': 0.44}]
chr11	GH11I111870	111870227	111872417	1.98	[{'connected_gene': 'ALG9', 'score': 550.77}, {'connected_gene': 'PPP2R1B', 'score': 13.87}, {'connected_gene': 'DIXDC1', 'score': 10.86}, {'connected_gene': 'HSPB2-C11orf52', 'score': 10.64}, {'connected_gene': 'HSPB2', 'score': 10.64}, {'connected_gene': 'C11orf52', 'score': 10.63}, {'connected_gene': 'CRYAB', 'score': 10.61}, {'connected_gene': 'NKAPD1', 'score': 9.57}, {'connected_gene': 'PIH1D2', 'score': 9.57}, {'connected_gene': 'GC11P111865', 'score': 0.44}, {'connected_gene': 'ENSG00000258529', 'score': 0.44}]
chr11	GH11I111877	111877797	111877906	0.52	[{'connected_gene': 'C11orf1', 'score': 550.77}, {'connected_gene': 'ENSG00000258529', 'score': 550.77}, {'connected_gene': 'C11orf52', 'score': 10.74}, {'connected_gene': 'DIXDC1', 'score': 10.73}, {'connected_gene': 'CRYAB', 'score': 10.73}, {'connected_gene': 'NKAPD1', 'score': 10.54}, {'connected_gene': 'PIH1D2', 'score': 10.54}, {'connected_gene': 'HSPB2-C11orf52', 'score': 10.54}, {'connected_gene': 'HSPB2', 'score': 10.54}, {'connected_gene': 'PPP2R1B', 'score': 9.84}, {'connected_gene': 'ENSG00000255292', 'score': 9.43}, {'connected_gene': 'FDXACB1', 'score': 0.77}, {'connected_gene': 'ALG9', 'score': 0.44}]
chr11	GH11I112099	112099966	112101346	0.43	[{'connected_gene': 'NKAPD1', 'score': 11.59}, {'connected_gene': 'PIH1D2', 'score': 11.59}, {'connected_gene': 'TEX12', 'score': 10.33}, {'connected_gene': 'DIXDC1', 'score': 9.6}, {'connected_gene': 'CRYAB', 'score': 9.43}, {'connected_gene': 'C11orf52', 'score': 9.43}, {'connected_gene': 'HSPB2-C11orf52', 'score': 9.28}, {'connected_gene': 'HSPB2', 'score': 9.28}, {'connected_gene': 'SDHD', 'score': 4.4}, {'connected_gene': 'PPP2R1B', 'score': 4.37}, {'connected_gene': 'ENSG00000255292', 'score': 0.39}, {'connected_gene': 'IL18', 'score': 0.21}]
chr11	GH11I112103	112103201	112104000	0.2	[{'connected_gene': 'PPP2R1B', 'score': 12.61}, {'connected_gene': 'NKAPD1', 'score': 10.54}, {'connected_gene': 'PIH1D2', 'score': 10.54}, {'connected_gene': 'TEX12', 'score': 9.96}, {'connected_gene': 'CRYAB', 'score': 9.95}, {'connected_gene': 'C11orf52', 'score': 9.94}, {'connected_gene': 'HSPB2-C11orf52', 'score': 9.93}, {'connected_gene': 'HSPB2', 'score': 9.93}, {'connected_gene': 'ENSG00000255292', 'score': 0.37}, {'connected_gene': 'SDHD', 'score': 0.37}, {'connected_gene': 'IL18', 'score': 0.21}]
chr11	GH11I111981	111981473	111984329	1.25	[{'connected_gene': 'RNA5SP351', 'score': 11.78}, {'connected_gene': 'DIXDC1', 'score': 11.77}, {'connected_gene': 'CRYAB', 'score': 11.52}, {'connected_gene': 'C11orf52', 'score': 11.51}, {'connected_gene': 'HSPB2-C11orf52', 'score': 11.49}, {'connected_gene': 'HSPB2', 'score': 11.49}, {'connected_gene': 'PPP2R1B', 'score': 9.89}, {'connected_gene': 'ENSG00000255334', 'score': 0.29}, {'connected_gene': 'ENSG00000255286', 'score': 0.28}]
chr11	GH11I111828	111828996	111830495	0.67	[{'connected_gene': 'ALG9-IT1', 'score': 550.77}, {'connected_gene': 'SIK2', 'score': 10.92}, {'connected_gene': 'C11orf88', 'score': 9.86}, {'connected_gene': 'BTG4', 'score': 9.86}, {'connected_gene': 'MIR34C', 'score': 9.86}, {'connected_gene': 'MIR34B', 'score': 9.86}, {'connected_gene': 'HSPB2-C11orf52', 'score': 9.7}, {'connected_gene': 'HSPB2', 'score': 9.7}, {'connected_gene': 'C11orf52', 'score': 9.69}, {'connected_gene': 'CRYAB', 'score': 9.69}, {'connected_gene': 'ENSG00000254980', 'score': 9.68}, {'connected_gene': 'PPP2R1B', 'score': 5.56}, {'connected_gene': 'GNG5P3', 'score': 0.29}, {'connected_gene': 'ALG9', 'score': 0.26}, {'connected_gene': 'ENSG00000258529', 'score': 0.25}]
chr11	GH11I111908	111908675	111914930	2.03	[{'connected_gene': 'HSPB2-C11orf52', 'score': 550.77}, {'connected_gene': 'HSPB2', 'score': 550.77}, {'connected_gene': 'CRYAB', 'score': 550.39}, {'connected_gene': 'PPP2R1B', 'score': 16.9}, {'connected_gene': 'C11orf52', 'score': 7.51}, {'connected_gene': 'DLAT', 'score': 4.69}, {'connected_gene': 'RPL37AP8', 'score': 0.34}]
chr11	GH11I111946	111946637	111946786	0.74	[{'connected_gene': 'ENSG00000255286', 'score': 550.77}, {'connected_gene': 'CRYAB', 'score': 11.14}, {'connected_gene': 'C11orf52', 'score': 11.12}, {'connected_gene': 'HSPB2-C11orf52', 'score': 10.9}, {'connected_gene': 'HSPB2', 'score': 10.9}, {'connected_gene': 'ENSG00000255292', 'score': 10.69}, {'connected_gene': 'SDHD', 'score': 10.69}, {'connected_gene': 'TIMM8B', 'score': 10.69}, {'connected_gene': 'FDXACB1', 'score': 10.37}, {'connected_gene': 'C11orf1', 'score': 10.37}, {'connected_gene': 'ALG9', 'score': 10.35}, {'connected_gene': 'DIXDC1', 'score': 0.37}, {'connected_gene': 'RNA5SP351', 'score': 0.37}]
chr11	GH11I112082	112082165	112084041	0.54	[{'connected_gene': 'PIR48704', 'score': 550.77}, {'connected_gene': 'RNA5SP351', 'score': 10.09}, {'connected_gene': 'DIXDC1', 'score': 10.09}, {'connected_gene': 'CRYAB', 'score': 10.01}, {'connected_gene': 'C11orf52', 'score': 10.01}, {'connected_gene': 'HSPB2-C11orf52', 'score': 10.0}, {'connected_gene': 'HSPB2', 'score': 10.0}, {'connected_gene': 'TEX12', 'score': 9.99}, {'connected_gene': 'PPP2R1B', 'score': 9.3}, {'connected_gene': 'SDHD', 'score': 5.57}, {'connected_gene': 'NKAPD1', 'score': 0.44}, {'connected_gene': 'PIH1D2', 'score': 0.44}]