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
ENST00000504148	[[111955523, 111956186], [111957363, 111957519]]	[[111956018, 111956186], [111957363, 111957447]]
ENST00000509359	[[111955523, 111956186], [111956701, 111957034], [111957363, 111957522]]	[[111957019, 111957034], [111957363, 111957447]]
ENST00000541231	[[111955540, 111956186], [111957363, 111957522]]	[[111956018, 111956186], [111957363, 111957492]]
ENST00000507614	[[111955872, 111956186], [111956690, 111957034], [111957363, 111957446]]	None
NR_028383	[[111955523, 111956186], [111956701, 111957034], [111957363, 111957522]]	None
NM_012459	[[111955523, 111956186], [111957363, 111957522]]	[[111956018, 111956186], [111957363, 111957492]]

Promoter

Chrom	Start	End	Description
chr11	111957451	111957493	CAGE_peak_1_at_TIMM8B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I111931	111931800	111932201	0.88	[{'connected_gene': 'FDXACB1', 'score': 10.67}, {'connected_gene': 'C11orf1', 'score': 10.67}, {'connected_gene': 'ALG9', 'score': 10.64}, {'connected_gene': 'NKAPD1', 'score': 10.41}, {'connected_gene': 'PIH1D2', 'score': 10.41}, {'connected_gene': 'ENSG00000255292', 'score': 9.92}, {'connected_gene': 'SDHD', 'score': 9.92}, {'connected_gene': 'TIMM8B', 'score': 9.92}, {'connected_gene': 'DIXDC1', 'score': 0.77}, {'connected_gene': 'RNA5SP351', 'score': 0.77}, {'connected_gene': 'ENSG00000255286', 'score': 0.39}]
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	GH11I112174	112174632	112176795	1.82	[{'connected_gene': 'BCO2', 'score': 576.43}, {'connected_gene': 'SDHD', 'score': 10.66}, {'connected_gene': 'ENSG00000255292', 'score': 10.66}, {'connected_gene': 'TIMM8B', 'score': 10.66}, {'connected_gene': 'KCTD9P4', 'score': 0.44}]
chr11	GH11I112195	112195695	112196518	0.6	[{'connected_gene': 'BCO2', 'score': 11.54}, {'connected_gene': 'ENSG00000254638', 'score': 11.54}, {'connected_gene': 'ENSG00000255292', 'score': 11.34}, {'connected_gene': 'TEX12', 'score': 10.83}, {'connected_gene': 'SDHD', 'score': 10.39}, {'connected_gene': 'TIMM8B', 'score': 10.39}, {'connected_gene': 'RNU6-44P', 'score': 9.06}, {'connected_gene': 'MRPS36P4', 'score': 0.39}, {'connected_gene': 'KCTD9P4', 'score': 0.37}]
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	GH11I112050	112050556	112051961	0.63	[{'connected_gene': 'SDHD', 'score': 10.69}, {'connected_gene': 'ENSG00000255292', 'score': 10.69}, {'connected_gene': 'TIMM8B', 'score': 10.69}, {'connected_gene': 'ENSG00000271025', 'score': 0.39}, {'connected_gene': 'NKAPD1', 'score': 0.34}, {'connected_gene': 'DLAT', 'score': 0.31}]
chr11	GH11I112085	112085521	112088003	2.06	[{'connected_gene': 'SDHD', 'score': 555.6}, {'connected_gene': 'ENSG00000255292', 'score': 550.77}, {'connected_gene': 'TIMM8B', 'score': 550.77}, {'connected_gene': 'PPP2R1B', 'score': 13.57}, {'connected_gene': 'PIR48704', 'score': 0.77}]
chr11	GH11I112225	112225604	112230867	2.21	[{'connected_gene': 'PTS', 'score': 550.77}, {'connected_gene': 'LOC283140', 'score': 38.22}, {'connected_gene': 'PLET1', 'score': 13.09}, {'connected_gene': 'ENSG00000255292', 'score': 10.82}, {'connected_gene': 'SDHD', 'score': 10.82}, {'connected_gene': 'TIMM8B', 'score': 10.82}, {'connected_gene': 'BCO2', 'score': 4.8}, {'connected_gene': 'RPS6P16', 'score': 0.44}]
chr11	GH11I112145	112145884	112146056	0.34	[{'connected_gene': 'TEX12', 'score': 11.05}, {'connected_gene': 'BCO2', 'score': 10.94}, {'connected_gene': 'ENSG00000254638', 'score': 10.94}, {'connected_gene': 'ENSG00000255292', 'score': 10.93}, {'connected_gene': 'SDHD', 'score': 10.69}, {'connected_gene': 'TIMM8B', 'score': 10.69}, {'connected_gene': 'DIXDC1', 'score': 1.52}, {'connected_gene': 'IL18', 'score': 0.37}]
chr11	GH11I112041	112041989	112043379	0.76	[{'connected_gene': 'NKAPD1', 'score': 12.4}, {'connected_gene': 'PIH1D2', 'score': 12.4}, {'connected_gene': 'SDHD', 'score': 10.89}, {'connected_gene': 'ENSG00000255292', 'score': 10.89}, {'connected_gene': 'TIMM8B', 'score': 10.89}, {'connected_gene': 'DLAT', 'score': 10.33}, {'connected_gene': 'TEX12', 'score': 9.21}, {'connected_gene': 'ENSG00000271025', 'score': 0.44}]
chr11	GH11I112155	112155817	112167267	2.43	[{'connected_gene': 'IL18', 'score': 576.69}, {'connected_gene': 'BCO2', 'score': 26.06}, {'connected_gene': 'SDHD', 'score': 10.8}, {'connected_gene': 'ENSG00000255292', 'score': 10.8}, {'connected_gene': 'TIMM8B', 'score': 10.8}, {'connected_gene': 'C11orf88', 'score': 5.0}, {'connected_gene': 'ENSG00000254638', 'score': 0.39}]
chr11	GH11I112119	112119321	112122420	1.15	[{'connected_gene': 'IL18', 'score': 20.32}, {'connected_gene': 'ENSG00000255292', 'score': 11.48}, {'connected_gene': 'SDHD', 'score': 11.48}, {'connected_gene': 'TIMM8B', 'score': 11.48}, {'connected_gene': 'TEX12', 'score': 11.27}, {'connected_gene': 'BCO2', 'score': 6.77}, {'connected_gene': 'LOC101928847', 'score': 4.8}, {'connected_gene': 'ALG9', 'score': 4.67}]
chr11	GH11I112179	112179201	112179989	0.72	[{'connected_gene': 'KCTD9P4', 'score': 550.77}, {'connected_gene': 'BCO2', 'score': 26.63}, {'connected_gene': 'SDHD', 'score': 10.38}, {'connected_gene': 'ENSG00000255292', 'score': 10.38}, {'connected_gene': 'TIMM8B', 'score': 10.38}]
chr11	GH11I112016	112016121	112018103	1.04	[{'connected_gene': 'GC11M112018', 'score': 550.77}, {'connected_gene': 'ENSG00000255334', 'score': 550.77}, {'connected_gene': 'NKAPD1', 'score': 11.07}, {'connected_gene': 'PIH1D2', 'score': 11.07}, {'connected_gene': 'ENSG00000255292', 'score': 10.61}, {'connected_gene': 'SDHD', 'score': 10.61}, {'connected_gene': 'TIMM8B', 'score': 10.61}, {'connected_gene': 'FDXACB1', 'score': 10.22}, {'connected_gene': 'C11orf1', 'score': 10.22}, {'connected_gene': 'ALG9', 'score': 10.21}, {'connected_gene': 'DIXDC1', 'score': 0.17}]
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}]