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
ENST00000381346	[[68143517, 68145140], [68151731, 68151921], [68156928, 68157138], [68157856, 68157961], [68159154, 68159310], [68159650, 68159769], [68162346, 68162531]]	[[68145037, 68145140], [68151731, 68151921], [68156928, 68157138], [68157856, 68157961], [68159154, 68159310], [68159650, 68159769], [68162346, 68162420]]
ENST00000553384	[[68144080, 68145140], [68151731, 68151921], [68156928, 68157138], [68157856, 68157961], [68159154, 68159310], [68159689, 68159769], [68162346, 68162471]]	[[68145037, 68145140], [68151731, 68151921], [68156928, 68157138], [68157856, 68157961], [68159154, 68159310], [68159689, 68159769], [68162346, 68162420]]
ENST00000553578	[[68144109, 68145140], [68151731, 68151921], [68152800, 68152974], [68156928, 68159568]]	None
ENST00000428130	[[68144750, 68145140], [68151731, 68151921], [68157856, 68157961], [68159154, 68159310], [68159650, 68159769], [68162346, 68162450]]	[[68145037, 68145140], [68151731, 68151921], [68157856, 68157961], [68159154, 68159310], [68159650, 68159769], [68162346, 68162420]]
ENST00000554731	[[68144789, 68145140], [68151731, 68151921], [68156928, 68157138], [68162346, 68162483]]	[[68157026, 68157138], [68162346, 68162420]]
ENST00000554035	[[68144803, 68145140], [68151731, 68151882], [68156928, 68157138], [68157856, 68157961], [68159154, 68159200]]	[[68145037, 68145140], [68151731, 68151882], [68156928, 68157138], [68157856, 68157961], [68159154, 68159200]]
ENST00000553816	[[68151226, 68151921], [68157856, 68157961], [68159154, 68159310], [68159650, 68159769], [68162346, 68162434]]	None
ENST00000557273	[[68151789, 68151921], [68156928, 68157138], [68159650, 68159769], [68162346, 68162447]]	[[68151789, 68151921], [68156928, 68157138], [68159650, 68159769], [68162346, 68162420]]
ENST00000557726	[[68151869, 68151921], [68156928, 68157138], [68157856, 68157961], [68159650, 68159769], [68162346, 68162481]]	[[68151869, 68151921], [68156928, 68157138], [68157856, 68157961], [68159650, 68159769], [68162346, 68162420]]
ENST00000557331	[[68156991, 68157138], [68157856, 68157961], [68159154, 68159310], [68162346, 68162491]]	[[68159195, 68159310], [68162346, 68162420]]
ENST00000556692	[[68159132, 68159769], [68162346, 68162510]]	None
NM_016026	[[68143516, 68145140], [68151731, 68151921], [68156928, 68157138], [68157856, 68157961], [68159154, 68159310], [68159650, 68159769], [68162346, 68162510]]	[[68145037, 68145140], [68151731, 68151921], [68156928, 68157138], [68157856, 68157961], [68159154, 68159310], [68159650, 68159769], [68162346, 68162420]]
NM_001252650	[[68143516, 68145140], [68151731, 68151921], [68157856, 68157961], [68159154, 68159310], [68159650, 68159769], [68162346, 68162510]]	[[68145037, 68145140], [68151731, 68151921], [68157856, 68157961], [68159154, 68159310], [68159650, 68159769], [68162346, 68162420]]

Promoter

Chrom	Start	End	Description
chr14	68159152	68159155	CAGE_peak_3_at_RDH11_5end
chr14	68159647	68159651	CAGE_peak_4_at_RDH11_5end
chr14	68162438	68162459	CAGE_peak_2_at_RDH11_5end
chr14	68162464	68162494	CAGE_peak_1_at_RDH11_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I067729	67729037	67729991	1.02	[{'connected_gene': 'PIGH', 'score': 11.32}, {'connected_gene': 'RDH11', 'score': 6.19}, {'connected_gene': 'ENSG00000271697', 'score': 0.44}, {'connected_gene': 'RPL21P9', 'score': 0.37}, {'connected_gene': 'RDH12', 'score': 0.31}, {'connected_gene': 'ZFYVE26', 'score': 0.17}]
chr14	GH14I067692	67692866	67696393	2.5	[{'connected_gene': 'RDH11', 'score': 563.44}, {'connected_gene': 'PIGH', 'score': 10.74}, {'connected_gene': 'ARG2', 'score': 9.46}, {'connected_gene': 'RDH12', 'score': 6.3}, {'connected_gene': 'ENSG00000259502', 'score': 4.57}, {'connected_gene': 'PLEK2', 'score': 1.79}, {'connected_gene': 'ENSG00000258466', 'score': 0.77}]
chr14	GH14I067709	67709410	67710533	0.66	[{'connected_gene': 'RDH11', 'score': 13.15}, {'connected_gene': 'PIGH', 'score': 11.75}, {'connected_gene': 'ENSG00000201529', 'score': 11.0}, {'connected_gene': 'ARG2', 'score': 11.0}, {'connected_gene': 'VTI1B', 'score': 6.13}, {'connected_gene': 'RN7SL369P', 'score': 0.77}, {'connected_gene': 'RPL21P9', 'score': 0.77}, {'connected_gene': 'RDH12', 'score': 0.44}]
chr14	GH14I067635	67635570	67637010	0.96	[{'connected_gene': 'RDH11', 'score': 13.29}, {'connected_gene': 'ARG2', 'score': 4.42}, {'connected_gene': 'GC14M067653', 'score': 0.37}]
chr14	GH14I067666	67666142	67667913	0.89	[{'connected_gene': 'ARG2', 'score': 21.35}, {'connected_gene': 'ENSG00000201529', 'score': 12.86}, {'connected_gene': 'RDH11', 'score': 12.79}, {'connected_gene': 'PIGH', 'score': 11.76}, {'connected_gene': 'RDH12', 'score': 11.53}, {'connected_gene': 'RN7SL369P', 'score': 11.52}, {'connected_gene': 'VTI1B', 'score': 5.88}, {'connected_gene': 'GC14M067658', 'score': 0.44}, {'connected_gene': 'ENSG00000258466', 'score': 0.34}]
chr14	GH14I067668	67668086	67668888	0.59	[{'connected_gene': 'ARG2', 'score': 23.77}, {'connected_gene': 'RDH11', 'score': 13.07}, {'connected_gene': 'ENSG00000201529', 'score': 12.85}, {'connected_gene': 'PIGH', 'score': 11.76}, {'connected_gene': 'RDH12', 'score': 11.53}, {'connected_gene': 'RN7SL369P', 'score': 11.52}, {'connected_gene': 'VTI1B', 'score': 0.44}, {'connected_gene': 'GC14M067658', 'score': 0.39}, {'connected_gene': 'ENSG00000258466', 'score': 0.34}]
chr14	GH14I067761	67761684	67767136	0.82	[{'connected_gene': 'ARG2', 'score': 13.08}, {'connected_gene': 'RDH11', 'score': 8.9}, {'connected_gene': 'RN7SL213P', 'score': 0.39}, {'connected_gene': 'LOC100421541', 'score': 0.29}, {'connected_gene': 'ZFYVE26', 'score': 0.23}]
chr14	GH14I067645	67645997	67646652	0.31	[{'connected_gene': 'ARG2', 'score': 23.22}, {'connected_gene': 'RDH11', 'score': 12.81}, {'connected_gene': 'ENSG00000201529', 'score': 12.42}, {'connected_gene': 'GC14M067653', 'score': 0.44}]
chr14	GH14I067715	67715784	67715933	0.75	[{'connected_gene': 'RPL21P9', 'score': 550.77}, {'connected_gene': 'RDH11', 'score': 11.35}, {'connected_gene': 'PIGH', 'score': 10.32}, {'connected_gene': 'RDH12', 'score': 0.39}, {'connected_gene': 'ENSG00000271697', 'score': 0.37}]
chr14	GH14I067738	67738304	67739933	1.14	[{'connected_gene': 'ZFYVE26', 'score': 11.78}, {'connected_gene': 'RDH11', 'score': 7.29}, {'connected_gene': 'RDH12', 'score': 6.0}, {'connected_gene': 'PIGH', 'score': 5.2}, {'connected_gene': 'VTI1B', 'score': 5.0}, {'connected_gene': 'ENSG00000271697', 'score': 0.77}, {'connected_gene': 'RN7SL213P', 'score': 0.39}]
chr14	GH14I067700	67700600	67701001	0.91	[{'connected_gene': 'RDH12', 'score': 550.77}, {'connected_gene': 'RDH11', 'score': 0.77}]
chr14	GH14I067701	67701837	67701896	0.5	[{'connected_gene': 'RDH12', 'score': 550.77}, {'connected_gene': 'RDH11', 'score': 0.44}]
chr14	GH14I067679	67679601	67681496	1.1	[{'connected_gene': 'RDH12', 'score': 17.64}, {'connected_gene': 'RN7SL369P', 'score': 11.75}, {'connected_gene': 'PIGH', 'score': 11.13}, {'connected_gene': 'PLEKHH1', 'score': 10.5}, {'connected_gene': 'ARG2', 'score': 9.6}, {'connected_gene': 'ENSG00000258466', 'score': 0.44}, {'connected_gene': 'VTI1B', 'score': 0.44}, {'connected_gene': 'GC14P067688', 'score': 0.44}, {'connected_gene': 'RDH11', 'score': 0.37}]
chr14	GH14I067673	67673352	67675832	2.01	[{'connected_gene': 'VTI1B', 'score': 550.77}, {'connected_gene': 'PIGH', 'score': 15.72}, {'connected_gene': 'RDH11', 'score': 13.1}, {'connected_gene': 'RDH12', 'score': 11.75}, {'connected_gene': 'RN7SL369P', 'score': 11.73}, {'connected_gene': 'ARG2', 'score': 9.34}, {'connected_gene': 'EIF2S1', 'score': 3.7}, {'connected_gene': 'GC14M067658', 'score': 0.37}, {'connected_gene': 'ENSG00000258466', 'score': 0.37}]
chr14	GH14I067733	67733264	67735978	0.43	[{'connected_gene': 'ENSG00000271697', 'score': 550.77}, {'connected_gene': 'RDH11', 'score': 13.24}, {'connected_gene': 'VTI1B', 'score': 5.06}, {'connected_gene': 'RPL21P9', 'score': 0.34}, {'connected_gene': 'RDH12', 'score': 0.29}, {'connected_gene': 'ZFYVE26', 'score': 0.18}]