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
ENST00000328736	[[88932121, 88934609], [88935259, 88935420], [88935842, 88936077], [88936265, 88936394], [88938587, 88938809], [88940008, 88940146], [88945263, 88946696], [88951419, 88951504], [88952125, 88952186], [88962756, 88962836], [88963546, 88963634], [88967126, 88967215], [88967624, 88967712], [88970768, 88970839], [88971647, 88971715], [88974266, 88974364], [88983435, 88983605], [89016581, 89016966]]	[[88934480, 88934609], [88935259, 88935420], [88935842, 88936077], [88936265, 88936394], [88938587, 88938809], [88940008, 88940146], [88945263, 88946696], [88951419, 88951504], [88952125, 88952186], [88962756, 88962836], [88963546, 88963634], [88967126, 88967215], [88967624, 88967712], [88970768, 88970839], [88971647, 88971715], [88974266, 88974364], [88983435, 88983605], [89016581, 89016761]]
ENST00000556564	[[88932124, 88934609], [88935259, 88935420], [88935842, 88936077], [88936265, 88936394], [88938587, 88938809], [88940008, 88940146], [88945263, 88946696], [88951419, 88951504], [88952125, 88952186], [88962756, 88962836], [88963546, 88963634], [88967126, 88967215], [88967624, 88967712], [88970768, 88970839], [88971647, 88971715], [88974266, 88974364], [88983435, 88983605], [89016581, 89016963], [89020994, 89021077]]	[[88934480, 88934609], [88935259, 88935420], [88935842, 88936077], [88936265, 88936394], [88938587, 88938809], [88940008, 88940146], [88945263, 88946696], [88951419, 88951504], [88952125, 88952186], [88962756, 88962836], [88963546, 88963634], [88967126, 88967215], [88967624, 88967712], [88970768, 88970839], [88971647, 88971715], [88974266, 88974364], [88983435, 88983605], [89016581, 89016761]]
ENST00000536337	[[88934298, 88934609], [88935259, 88935420], [88935842, 88936077], [88936265, 88936394], [88938587, 88938809], [88940008, 88940146], [88945263, 88946696], [88951419, 88951504], [88952125, 88952186], [88962756, 88962836], [88963546, 88963634], [88967126, 88967215], [88967624, 88967712], [88970768, 88970839], [88971647, 88971715], [88974266, 88974364], [88983435, 88983605], [89013872, 89013995], [89016581, 89016874]]	[[89013989, 89013995], [89016581, 89016761]]
ENST00000554270	[[88934298, 88934609], [88935259, 88935420], [88935842, 88936394], [88938587, 88938809], [88940008, 88940146], [88945263, 88946696], [88951419, 88951504], [88952125, 88952186], [88962756, 88962836], [88963546, 88963634], [88967126, 88967215], [88967624, 88967712], [88970768, 88970839], [88971647, 88971715], [88974266, 88974364], [88983435, 88983605], [89016581, 89016874]]	None
ENST00000554628	[[88959243, 88959502], [88962756, 88962836], [88963546, 88963634], [88967126, 88967215], [88967624, 88967712], [88970768, 88970839], [88971647, 88971715], [88974266, 88974364], [88983435, 88983605], [89016581, 89016963], [89017655, 89017833]]	None
ENST00000555243	[[88970768, 88970839], [88971647, 88971715], [88974266, 88974364], [88983435, 88983605], [89016581, 89016963], [89017579, 89017804]]	[[88970768, 88970839], [88971647, 88971715], [88974266, 88974364], [88983435, 88983605], [89016581, 89016761]]
ENST00000554178	[[88978661, 88978931], [88983435, 88983605], [89016581, 89016963]]	None
ENST00000553531	[[88934113, 88934609], [88935330, 88935420], [88935842, 88935960]]	[[88934430, 88934609], [88935330, 88935420], [88935842, 88935960]]
ENST00000557249	[[88936308, 88936394], [88938587, 88938809], [88940008, 88940276]]	None
NM_007039	[[88932121, 88934609], [88935259, 88935420], [88935842, 88936077], [88936265, 88936394], [88938587, 88938809], [88940008, 88940146], [88945263, 88946696], [88951419, 88951504], [88952125, 88952186], [88962756, 88962836], [88963546, 88963634], [88967126, 88967215], [88967624, 88967712], [88970768, 88970839], [88971647, 88971715], [88974266, 88974364], [88983435, 88983605], [89016581, 89016963], [89020994, 89021123]]	[[88934480, 88934609], [88935259, 88935420], [88935842, 88936077], [88936265, 88936394], [88938587, 88938809], [88940008, 88940146], [88945263, 88946696], [88951419, 88951504], [88952125, 88952186], [88962756, 88962836], [88963546, 88963634], [88967126, 88967215], [88967624, 88967712], [88970768, 88970839], [88971647, 88971715], [88974266, 88974364], [88983435, 88983605], [89016581, 89016761]]

Promoter

Chrom	Start	End	Description
chr14	88940266	88940280	CAGE_peak_11_at_PTPN21_5end
chr14	88940316	88940324	CAGE_peak_15_at_PTPN21_5end
chr14	89021211	89021230	CAGE_peak_4_at_PTPN21_5end
chr14	89021244	89021263	CAGE_peak_2_at_PTPN21_5end
chr14	89021282	89021363	CAGE_peak_1_at_PTPN21_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I088534	88534822	88536151	0.64	[{'connected_gene': 'ZC3H14', 'score': 11.52}, {'connected_gene': 'SPATA7', 'score': 9.93}, {'connected_gene': 'PTPN21', 'score': 0.37}, {'connected_gene': 'ENSG00000258789', 'score': 0.37}, {'connected_gene': 'RNU4-22P', 'score': 0.34}, {'connected_gene': 'GC14M092125', 'score': 0.06}]
chr14	GH14I088492	88492277	88493246	0.89	[{'connected_gene': 'ZC3H14', 'score': 10.7}, {'connected_gene': 'SPATA7', 'score': 7.94}, {'connected_gene': 'LOC105370614', 'score': 0.44}, {'connected_gene': 'PTPN21', 'score': 0.21}, {'connected_gene': 'GC14M092125', 'score': 0.05}]
chr14	GH14I088594	88594371	88594430	0.61	[{'connected_gene': 'ZC3H14', 'score': 550.29}, {'connected_gene': 'PTPN21', 'score': 10.77}, {'connected_gene': 'ENSG00000278576', 'score': 0.44}, {'connected_gene': 'PIR31268', 'score': 0.21}, {'connected_gene': 'GC14M092125', 'score': 0.07}]
chr14	GH14I088559	88559957	88560106	0.57	[{'connected_gene': 'ZC3H14', 'score': 0.77}, {'connected_gene': 'PTPN21', 'score': 0.44}, {'connected_gene': 'GC14M092125', 'score': 0.06}]
chr14	GH14I088481	88481271	88483601	0.2	[{'connected_gene': 'SPATA7', 'score': 17.71}, {'connected_gene': 'PTPN21', 'score': 10.74}, {'connected_gene': 'LOC105370614', 'score': 0.37}, {'connected_gene': 'GC14M092125', 'score': 0.05}]
chr14	GH14I088487	88487168	88489990	0.54	[{'connected_gene': 'SPATA7', 'score': 18.65}, {'connected_gene': 'RNU4-22P', 'score': 18.18}, {'connected_gene': 'PTPN21', 'score': 16.02}, {'connected_gene': 'LOC105370614', 'score': 0.39}, {'connected_gene': 'GC14M092125', 'score': 0.05}]
chr14	GH14I088470	88470490	88472067	0.2	[{'connected_gene': 'SPATA7', 'score': 17.73}, {'connected_gene': 'LOC105370614', 'score': 0.31}, {'connected_gene': 'PTPN21', 'score': 0.18}, {'connected_gene': 'GC14M092125', 'score': 0.05}]
chr14	GH14I088516	88516562	88517475	0.43	[{'connected_gene': 'SPATA7', 'score': 17.71}, {'connected_gene': 'LOC105370614', 'score': 14.17}, {'connected_gene': 'RNU4-22P', 'score': 0.77}, {'connected_gene': 'ENSG00000258789', 'score': 0.29}, {'connected_gene': 'PTPN21', 'score': 0.28}, {'connected_gene': 'GC14M092125', 'score': 0.05}]
chr14	GH14I089362	89362801	89371590	1.56	[{'connected_gene': 'FOXN3', 'score': 5.99}, {'connected_gene': 'PTPN21', 'score': 5.14}, {'connected_gene': 'ENSG00000258699', 'score': 0.39}, {'connected_gene': 'LOC101928817', 'score': 0.37}, {'connected_gene': 'ENSG00000258752', 'score': 0.37}, {'connected_gene': 'ENSG00000258380', 'score': 0.29}]
chr14	GH14I088557	88557401	88557600	0.2	[{'connected_gene': 'PTPN21', 'score': 5.15}, {'connected_gene': 'ZC3H14', 'score': 0.44}, {'connected_gene': 'GC14M092125', 'score': 0.06}]
chr14	GH14I088553	88553400	88555671	1.85	[{'connected_gene': 'PTPN21', 'score': 555.38}, {'connected_gene': 'SPATA7', 'score': 14.79}, {'connected_gene': 'ENSG00000258789', 'score': 0.77}, {'connected_gene': 'GC14M092125', 'score': 0.06}]
chr14	GH14I088552	88552977	88553126	0.52	[{'connected_gene': 'PTPN21', 'score': 550.77}, {'connected_gene': 'ENSG00000258789', 'score': 550.77}, {'connected_gene': 'GC14M092125', 'score': 0.06}]
chr14	GH14I088467	88467763	88470039	0.59	[{'connected_gene': 'RNU4-22P', 'score': 18.1}, {'connected_gene': 'SPATA7', 'score': 17.73}, {'connected_gene': 'LOC105370614', 'score': 0.29}, {'connected_gene': 'PTPN21', 'score': 0.17}, {'connected_gene': 'GC14M092125', 'score': 0.05}]
chr14	GH14I088518	88518957	88519106	0.52	[{'connected_gene': 'RNU4-22P', 'score': 0.44}, {'connected_gene': 'ENSG00000258789', 'score': 0.29}, {'connected_gene': 'PTPN21', 'score': 0.28}, {'connected_gene': 'GC14M092125', 'score': 0.06}]
chr14	GH14I088473	88473285	88474521	0.31	[{'connected_gene': 'LOC105370614', 'score': 0.31}, {'connected_gene': 'PTPN21', 'score': 0.18}, {'connected_gene': 'SPATA7', 'score': 0.17}, {'connected_gene': 'GC14M092125', 'score': 0.05}]
chr14	GH14I088550	88550462	88552791	1.41	[{'connected_gene': 'ENSG00000258789', 'score': 550.77}, {'connected_gene': 'SPATA7', 'score': 17.44}, {'connected_gene': 'LOC105370614', 'score': 14.49}, {'connected_gene': 'FAM35CP', 'score': 10.17}, {'connected_gene': 'PTPN21', 'score': 4.97}, {'connected_gene': 'GC14M092125', 'score': 0.06}]
chr14	GH14I088542	88542567	88543871	0.43	[{'connected_gene': 'ENSG00000258789', 'score': 0.44}, {'connected_gene': 'PTPN21', 'score': 0.39}, {'connected_gene': 'RNU4-22P', 'score': 0.31}, {'connected_gene': 'GC14M092125', 'score': 0.06}]
chr14	GH14I088546	88546777	88546906	0.2	[{'connected_gene': 'ENSG00000258789', 'score': 0.77}, {'connected_gene': 'PTPN21', 'score': 0.44}, {'connected_gene': 'RNU4-22P', 'score': 0.29}, {'connected_gene': 'GC14M092125', 'score': 0.06}]