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
ENST00000551171	[[68168602, 68168652], [68187564, 68187619], [68189140, 68189427], [68191189, 68191308], [68191815, 68191971], [68192767, 68192872], [68193697, 68193907], [68195907, 68196097], [68200462, 68201169]]	[[68189359, 68189427], [68191189, 68191308], [68191815, 68191971], [68192767, 68192872], [68193697, 68193907], [68195907, 68196097], [68200462, 68200565]]
ENST00000547463	[[68184522, 68184599], [68187530, 68187616]]	None
ENST00000267502	[[68187558, 68187619], [68189140, 68189427], [68191189, 68191308], [68191815, 68191971], [68192767, 68192872], [68193697, 68193907], [68195907, 68196097], [68200462, 68201167]]	[[68189359, 68189427], [68191189, 68191308], [68191815, 68191971], [68192767, 68192872], [68193697, 68193907], [68195907, 68196097], [68200462, 68200565]]
ENST00000539142	[[68189189, 68189427], [68191189, 68191308], [68191815, 68191971], [68192767, 68192872], [68193697, 68193907], [68195907, 68196097], [68200462, 68201167]]	[[68189359, 68189427], [68191189, 68191308], [68191815, 68191971], [68192767, 68192872], [68193697, 68193907], [68195907, 68196097], [68200462, 68200565]]
ENST00000552873	[[68193880, 68193907], [68195907, 68196463]]	None
NM_152443	[[68168602, 68168652], [68187564, 68187619], [68189140, 68189427], [68191189, 68191308], [68191815, 68191971], [68192767, 68192872], [68193697, 68193907], [68195907, 68196097], [68200462, 68201168]]	[[68189359, 68189427], [68191189, 68191308], [68191815, 68191971], [68192767, 68192872], [68193697, 68193907], [68195907, 68196097], [68200462, 68200565]]

Promoter

Chrom	Start	End	Description
chr14	68189203	68189220	CAGE_peak_1_at_RDH12_5end
chr14	68189243	68189252	CAGE_peak_2_at_RDH12_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I067536	67536196	67536336	0.42	[{'connected_gene': 'PLEKHH1', 'score': 16.95}, {'connected_gene': 'MPP5', 'score': 1.56}, {'connected_gene': 'RDH12', 'score': 1.32}, {'connected_gene': 'TMEM229B', 'score': 0.77}, {'connected_gene': 'PIR48522', 'score': 0.25}]
chr14	GH14I067579	67579903	67582528	0.51	[{'connected_gene': 'PLEKHH1', 'score': 12.08}, {'connected_gene': 'ENSG00000201529', 'score': 11.72}, {'connected_gene': 'ARG2', 'score': 11.72}, {'connected_gene': 'RN7SL369P', 'score': 11.4}, {'connected_gene': 'RDH12', 'score': 11.4}, {'connected_gene': 'PIGH', 'score': 5.18}, {'connected_gene': 'TMEM229B', 'score': 5.13}, {'connected_gene': 'PIR48522', 'score': 0.77}]
chr14	GH14I067427	67427924	67429986	0.84	[{'connected_gene': 'PLEKHH1', 'score': 12.31}, {'connected_gene': 'RDH12', 'score': 5.21}, {'connected_gene': 'MIR5694', 'score': 0.39}, {'connected_gene': 'PLEK2', 'score': 0.37}]
chr14	GH14I067575	67575365	67577033	0.38	[{'connected_gene': 'PIGH', 'score': 17.04}, {'connected_gene': 'PLEKHH1', 'score': 12.33}, {'connected_gene': 'RN7SL369P', 'score': 11.87}, {'connected_gene': 'RDH12', 'score': 11.87}, {'connected_gene': 'ENSG00000201529', 'score': 11.6}, {'connected_gene': 'ARG2', 'score': 11.6}, {'connected_gene': 'PLEK2', 'score': 11.19}, {'connected_gene': 'PIR48522', 'score': 0.44}, {'connected_gene': 'TMEM229B', 'score': 0.26}]
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	GH14I067284	67284544	67284856	0.45	[{'connected_gene': 'ATP6V1D', 'score': 22.98}, {'connected_gene': 'MPP5', 'score': 11.37}, {'connected_gene': 'RDH12', 'score': 3.52}, {'connected_gene': 'PLEKHH1', 'score': 1.65}, {'connected_gene': 'PIGH', 'score': 1.09}, {'connected_gene': 'GC14M067261', 'score': 0.34}, {'connected_gene': 'GC14M067260', 'score': 0.34}, {'connected_gene': 'GC14P067341', 'score': 0.22}]
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	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	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	GH14I067713	67713340	67713399	0.5	[{'connected_gene': 'RPL21P9', 'score': 550.77}, {'connected_gene': 'RDH12', 'score': 550.39}, {'connected_gene': 'RN7SL369P', 'score': 0.44}]
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	GH14I068207	68207975	68212683	1.54	[{'connected_gene': 'RDH12', 'score': 4.55}, {'connected_gene': 'ZFYVE26', 'score': 1.39}, {'connected_gene': 'RN7SL108P', 'score': 0.31}, {'connected_gene': 'LOC105370546', 'score': 0.26}, {'connected_gene': 'RAD51B', 'score': 0.05}]
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	GH14I068195	68195906	68196216	0.24	[{'connected_gene': 'RDH12', 'score': 3.08}, {'connected_gene': 'LOC105370546', 'score': 0.31}, {'connected_gene': 'RN7SL108P', 'score': 0.26}, {'connected_gene': 'RAD51B', 'score': 0.05}]
chr14	GH14I067703	67703801	67704891	0.96	[{'connected_gene': 'RN7SL369P', 'score': 550.77}, {'connected_gene': 'ARG2', 'score': 20.78}, {'connected_gene': 'ZFYVE26', 'score': 17.92}, {'connected_gene': 'PIGH', 'score': 11.76}, {'connected_gene': 'ENSG00000201529', 'score': 11.01}, {'connected_gene': 'RN7SL213P', 'score': 9.95}, {'connected_gene': 'PLEK2', 'score': 9.7}, {'connected_gene': 'RDH12', 'score': 7.26}]
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	GH14I067342	67342307	67342579	0.28	[{'connected_gene': 'GPHN', 'score': 5.94}, {'connected_gene': 'PLEKHH1', 'score': 4.44}, {'connected_gene': 'MPP5', 'score': 2.29}, {'connected_gene': 'RDH12', 'score': 2.14}, {'connected_gene': 'ENSG00000199755', 'score': 0.77}, {'connected_gene': 'EIF2S1', 'score': 0.37}, {'connected_gene': 'ATP6V1D', '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}]
chr14	GH14I067585	67584164	67584313	0.89	[{'connected_gene': 'PIR48522', 'score': 550.77}, {'connected_gene': 'ENSG00000201529', 'score': 11.73}, {'connected_gene': 'ARG2', 'score': 11.72}, {'connected_gene': 'PLEKHH1', 'score': 11.52}, {'connected_gene': 'RDH12', 'score': 11.4}, {'connected_gene': 'RN7SL369P', 'score': 11.4}, {'connected_gene': 'PIGH', 'score': 0.37}, {'connected_gene': 'TMEM229B', 'score': 0.23}]
chr14	GH14I067587	67587910	67589822	0.59	[{'connected_gene': 'ENSG00000201529', 'score': 12.38}, {'connected_gene': 'ARG2', 'score': 12.36}, {'connected_gene': 'PLEKHH1', 'score': 11.28}, {'connected_gene': 'RDH12', 'score': 10.95}, {'connected_gene': 'RN7SL369P', 'score': 10.94}, {'connected_gene': 'PIGH', 'score': 8.33}, {'connected_gene': 'HMGB1P34', 'score': 5.89}, {'connected_gene': 'PIR48522', 'score': 0.77}]
chr14	GH14I067721	67721904	67722800	0.84	[{'connected_gene': 'ENSG00000201529', 'score': 10.99}, {'connected_gene': 'ARG2', 'score': 10.99}, {'connected_gene': 'PIGH', 'score': 10.48}, {'connected_gene': 'VTI1B', 'score': 6.08}, {'connected_gene': 'RPL21P9', 'score': 0.44}, {'connected_gene': 'ENSG00000271697', 'score': 0.39}, {'connected_gene': 'RDH12', 'score': 0.34}]
chr14	GH14I067641	67641584	67642492	0.72	[{'connected_gene': 'ENSG00000201529', 'score': 12.47}, {'connected_gene': 'ARG2', 'score': 12.47}, {'connected_gene': 'RDH12', 'score': 6.13}, {'connected_gene': 'ENSG00000259502', 'score': 5.29}, {'connected_gene': 'GC14M067653', 'score': 0.39}]
chr14	GH14I067584	67584781	67587615	0.38	[{'connected_gene': 'PIR48522', 'score': 550.77}, {'connected_gene': 'ZFYVE26', 'score': 17.24}, {'connected_gene': 'ARG2', 'score': 16.29}, {'connected_gene': 'ENSG00000201529', 'score': 11.73}, {'connected_gene': 'PLEKHH1', 'score': 11.52}, {'connected_gene': 'RN7SL369P', 'score': 11.4}, {'connected_gene': 'RDH12', 'score': 11.4}, {'connected_gene': 'PIGH', 'score': 9.28}]