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
ENST00000561272	[[68048671, 68048991], [68059351, 68059435], [68060459, 68060669], [68066740, 68066886]]	[[68048883, 68048991], [68059351, 68059435], [68060459, 68060669], [68066740, 68066886]]
ENST00000216452	[[68056027, 68056889], [68059351, 68059435], [68060459, 68060669], [68066740, 68067004]]	[[68056796, 68056889], [68059351, 68059435], [68060459, 68060669], [68066740, 68066920]]
ENST00000558987	[[68056430, 68056889], [68059031, 68059153], [68059351, 68059435], [68060459, 68060635]]	[[68056861, 68056889], [68059031, 68059153], [68059351, 68059435], [68060459, 68060635]]
ENST00000559118	[[68056471, 68056889], [68059351, 68059493]]	None
ENST00000560722	[[68056522, 68056889], [68059351, 68059432], [68060459, 68060669], [68066740, 68066985]]	[[68056796, 68056889], [68059351, 68059432], [68060459, 68060669], [68066740, 68066920]]
ENST00000558493	[[68056709, 68056889], [68060459, 68060669], [68066740, 68066849]]	[[68056796, 68056889], [68060459, 68060669], [68066740, 68066849]]
ENST00000558198	[[68056753, 68056889], [68060459, 68060664], [68066740, 68066982]]	[[68060592, 68060664], [68066740, 68066920]]
ENST00000561303	[[68056828, 68056889], [68059351, 68059435], [68060444, 68060669], [68066740, 68066963]]	[[68060447, 68060669], [68066740, 68066920]]
ENST00000558001	[[68056843, 68056889], [68059351, 68059435], [68060459, 68060664], [68066740, 68066999]]	[[68060592, 68060664], [68066740, 68066920]]
ENST00000559581	[[68058525, 68059153], [68059351, 68059435], [68060459, 68060552], [68066740, 68066984]]	[[68058958, 68059153], [68059351, 68059435], [68060459, 68060552], [68066740, 68066920]]
ENST00000559415	[[68059120, 68059153], [68059351, 68059435], [68060459, 68060530], [68060626, 68060669], [68066740, 68066985]]	[[68059120, 68059153], [68059351, 68059435], [68060459, 68060530], [68060626, 68060669], [68066740, 68066920]]
ENST00000559097	[[68059970, 68060669], [68066740, 68067003]]	None
NM_004569	[[68056022, 68056889], [68059351, 68059435], [68060459, 68060669], [68066740, 68067017]]	[[68056796, 68056889], [68059351, 68059435], [68060459, 68060669], [68066740, 68066920]]

Promoter

Chrom	Start	End	Description
chr14	68066952	68066972	CAGE_peak_2_at_PIGH_5end
chr14	68066975	68067027	CAGE_peak_1_at_PIGH_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I067553	67553386	67554409	0.2	[{'connected_gene': 'PLEKHH1', 'score': 4.96}, {'connected_gene': 'PIGH', 'score': 4.18}, {'connected_gene': 'TMEM229B', 'score': 0.34}, {'connected_gene': 'PIR48522', 'score': 0.29}]
chr14	GH14I067602	67602255	67603698	0.56	[{'connected_gene': 'PLEKHH1', 'score': 10.6}, {'connected_gene': 'PIGH', 'score': 8.19}, {'connected_gene': 'ENSG00000259502', 'score': 7.79}, {'connected_gene': 'LOC105370543', 'score': 0.77}, {'connected_gene': 'LOC100419668', 'score': 0.44}]
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	GH14I067570	67570608	67572390	0.72	[{'connected_gene': 'PLEKHH1', 'score': 16.55}, {'connected_gene': 'PLEK2', 'score': 11.66}, {'connected_gene': 'ENSG00000201529', 'score': 11.06}, {'connected_gene': 'ARG2', 'score': 11.06}, {'connected_gene': 'PIGH', 'score': 8.12}, {'connected_gene': 'PIR48522', 'score': 0.39}, {'connected_gene': 'TMEM229B', 'score': 0.28}]
chr14	GH14I067577	67577747	67579193	0.2	[{'connected_gene': 'PIGH', 'score': 18.79}, {'connected_gene': 'PLEKHH1', 'score': 12.08}, {'connected_gene': 'ENSG00000201529', 'score': 11.61}, {'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	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	GH14I067526	67526704	67526993	0.92	[{'connected_gene': 'PIGH', 'score': 10.85}, {'connected_gene': 'ENSG00000201529', 'score': 10.52}, {'connected_gene': 'ARG2', 'score': 10.52}, {'connected_gene': 'PLEKHH1', 'score': 4.19}, {'connected_gene': 'TMEM229B', 'score': 0.44}, {'connected_gene': 'LOC105370542', 'score': 0.22}]
chr14	GH14I067527	67527654	67528464	0.2	[{'connected_gene': 'PIGH', 'score': 10.85}, {'connected_gene': 'ENSG00000201529', 'score': 10.53}, {'connected_gene': 'ARG2', 'score': 10.52}, {'connected_gene': 'TMEM229B', 'score': 0.44}, {'connected_gene': 'PLEKHH1', 'score': 0.44}, {'connected_gene': 'LOC105370542', 'score': 0.22}]
chr14	GH14I067555	67555069	67556241	0.2	[{'connected_gene': 'PIGH', 'score': 4.64}, {'connected_gene': 'TMEM229B', 'score': 0.34}, {'connected_gene': 'PLEKHH1', 'score': 0.34}, {'connected_gene': 'PIR48522', 'score': 0.31}]
chr14	GH14I067556	67556430	67558034	0.72	[{'connected_gene': 'PIGH', 'score': 4.61}, {'connected_gene': 'TMEM229B', 'score': 0.34}, {'connected_gene': 'PLEKHH1', 'score': 0.34}, {'connected_gene': 'PIR48522', 'score': 0.31}]
chr14	GH14I067599	67599168	67601232	1.98	[{'connected_gene': 'PIGH', 'score': 561.99}, {'connected_gene': 'LOC105370543', 'score': 550.77}, {'connected_gene': 'ZFYVE26', 'score': 11.03}, {'connected_gene': 'HMGB1P34', 'score': 10.77}, {'connected_gene': 'ENSG00000259502', 'score': 6.12}, {'connected_gene': 'PIR48522', 'score': 0.39}]
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	GH14I067417	67417701	67420479	0.9	[{'connected_gene': 'ATP6V1D', 'score': 12.98}, {'connected_gene': 'PLEKHH1', 'score': 11.58}, {'connected_gene': 'PIGH', 'score': 10.76}, {'connected_gene': 'PLEK2', 'score': 0.44}, {'connected_gene': 'MIR5694', 'score': 0.34}]
chr14	GH14I067415	67415704	67417471	0.72	[{'connected_gene': 'ATP6V1D', 'score': 13.01}, {'connected_gene': 'PLEKHH1', 'score': 11.49}, {'connected_gene': 'PIGH', 'score': 10.39}, {'connected_gene': 'PLEK2', 'score': 5.45}, {'connected_gene': 'MIR5694', 'score': 0.31}]
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	GH14I067618	67618724	67620890	2.04	[{'connected_gene': 'ARG2', 'score': 566.59}, {'connected_gene': 'PIGH', 'score': 4.79}, {'connected_gene': 'GC14M067653', 'score': 0.29}]
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	GH14I067566	67566435	67568131	0.74	[{'connected_gene': 'PLEK2', 'score': 11.66}, {'connected_gene': 'PIGH', 'score': 5.75}, {'connected_gene': 'PIR48522', 'score': 0.37}, {'connected_gene': 'TMEM229B', 'score': 0.29}, {'connected_gene': 'PLEKHH1', 'score': 0.29}]
chr14	GH14I068088	68088050	68090491	1.49	[{'connected_gene': 'ZFYVE26', 'score': 11.66}, {'connected_gene': 'PIGH', 'score': 1.64}, {'connected_gene': 'ENSG00000274666', 'score': 0.34}, {'connected_gene': 'PIR59795', 'score': 0.13}, {'connected_gene': 'RAD51B', 'score': 0.06}]
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	GH14I067521	67521765	67525194	0.6	[{'connected_gene': 'TMEM229B', 'score': 12.81}, {'connected_gene': 'PIGH', 'score': 10.93}, {'connected_gene': 'ENSG00000201529', 'score': 10.57}, {'connected_gene': 'ARG2', 'score': 10.57}, {'connected_gene': 'PLEKHH1', 'score': 4.75}, {'connected_gene': 'LOC105370542', 'score': 0.23}]
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	GH14I067748	67748918	67751036	0.31	[{'connected_gene': 'RN7SL213P', 'score': 550.77}, {'connected_gene': 'ARG2', 'score': 11.09}, {'connected_gene': 'PIGH', 'score': 10.02}, {'connected_gene': 'VTI1B', 'score': 4.94}, {'connected_gene': 'ENSG00000271697', 'score': 0.39}, {'connected_gene': 'ZFYVE26', 'score': 0.2}]
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	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	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}]