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
ENST00000375549	[[111957496, 111957683], [111958580, 111958697], [111959590, 111959735], [111965528, 111966518]]	[[111957631, 111957683], [111958580, 111958697], [111959590, 111959735], [111965528, 111965694]]
ENST00000528182	[[111957595, 111957683], [111958580, 111958697], [111959590, 111959728], [111965528, 111965939]]	[[111957631, 111957683], [111958580, 111958697], [111959590, 111959728], [111965528, 111965617]]
ENST00000528048	[[111957596, 111957683], [111958580, 111958697], [111965528, 111966229]]	[[111957631, 111957683], [111958580, 111958697], [111965528, 111965617]]
ENST00000528021	[[111957596, 111957683], [111958580, 111958697], [111959590, 111959735], [111990014, 111990353]]	[[111957631, 111957683], [111958580, 111958697], [111959590, 111959735], [111990014, 111990015]]
ENST00000526592	[[111957622, 111957683], [111958580, 111958697], [111959590, 111959735], [111963803, 111963933], [111965528, 111965936]]	[[111957631, 111957683], [111958580, 111958697], [111959590, 111959735], [111963803, 111963921]]
ENST00000525291	[[111957622, 111957683], [111959590, 111959735], [111965528, 111966112]]	[[111957631, 111957683], [111959590, 111959735], [111965528, 111965694]]
ENST00000530923	[[111957641, 111957683], [111958580, 111958697], [111959590, 111959735], [111961802, 111961856], [111965528, 111965887]]	[[111957641, 111957683], [111958580, 111958697], [111959590, 111959735], [111961802, 111961803]]
ENST00000534010	[[111959590, 111959735], [111978268, 111978432], [111990014, 111990165]]	[[111959590, 111959735], [111978268, 111978290]]
NM_001276504	[[111957547, 111957683], [111959590, 111959735], [111965528, 111966525]]	[[111957631, 111957683], [111959590, 111959735], [111965528, 111965694]]
NM_001276503	[[111957547, 111957683], [111958580, 111958697], [111965528, 111966525]]	[[111957631, 111957683], [111958580, 111958697], [111965528, 111965617]]
NM_003002	[[111957547, 111957683], [111958580, 111958697], [111959590, 111959735], [111965528, 111966525]]	[[111957631, 111957683], [111958580, 111958697], [111959590, 111959735], [111965528, 111965694]]
NM_001276506	[[111957547, 111957683], [111958580, 111958697], [111959590, 111959735], [111963803, 111963933], [111965528, 111966525]]	[[111957631, 111957683], [111958580, 111958697], [111959590, 111959735], [111963803, 111963921]]
NR_077060	[[111957547, 111957683], [111958580, 111958697], [111959590, 111959735], [111961802, 111961856], [111965528, 111966525]]	None

Promoter

Chrom	Start	End	Description
chr11	111957580	111957611	CAGE_peak_1_at_SDHD_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I111917	111917609	111919882	1.59	[{'connected_gene': 'C11orf52', 'score': 556.73}, {'connected_gene': 'LOC105369494', 'score': 550.77}, {'connected_gene': 'PPP2R1B', 'score': 14.99}, {'connected_gene': 'FDXACB1', 'score': 10.99}, {'connected_gene': 'C11orf1', 'score': 10.99}, {'connected_gene': 'ALG9', 'score': 10.96}, {'connected_gene': 'SDHD', 'score': 5.06}, {'connected_gene': 'CRYAB', 'score': 0.77}, {'connected_gene': 'HSPB2-C11orf52', 'score': 0.44}]
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	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	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	GH11I112113	112113401	112113800	0.94	[{'connected_gene': 'ALG9', 'score': 15.31}, {'connected_gene': 'NKAPD1', 'score': 14.43}, {'connected_gene': 'PIH1D2', 'score': 10.1}, {'connected_gene': 'LOC101928847', 'score': 9.72}, {'connected_gene': 'SDHD', 'score': 0.31}, {'connected_gene': 'ENSG00000255292', 'score': 0.31}, {'connected_gene': 'IL18', 'score': 0.23}]
chr11	GH11I111967	111967522	111968589	0.2	[{'connected_gene': 'SDHD', 'score': 5.31}, {'connected_gene': 'ENSG00000255286', 'score': 0.34}, {'connected_gene': 'DIXDC1', 'score': 0.26}, {'connected_gene': 'ENSG00000255334', 'score': 0.25}]
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	GH11I112073	112073088	112075399	2.08	[{'connected_gene': 'NKAPD1', 'score': 561.46}, {'connected_gene': 'PIH1D2', 'score': 550.77}, {'connected_gene': 'ALG9', 'score': 15.89}, {'connected_gene': 'PPP2R1B', 'score': 13.93}, {'connected_gene': 'NCAM1', 'score': 10.11}, {'connected_gene': 'SDHD', 'score': 5.16}, {'connected_gene': 'SIK2', 'score': 4.92}]
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	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	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	GH11I111922	111922417	111927907	2.22	[{'connected_gene': 'CRYAB', 'score': 550.77}, {'connected_gene': 'DIXDC1', 'score': 550.77}, {'connected_gene': 'PPP2R1B', 'score': 14.07}, {'connected_gene': 'SDHD', 'score': 5.66}, {'connected_gene': 'C11orf52', 'score': 5.58}, {'connected_gene': 'HSPB2-C11orf52', 'score': 0.39}]
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}]
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}]