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
ENST00000498202	[[170550997, 170551132], [170551724, 170551757], [170553870, 170554041], [170554402, 170554492], [170597894, 170598047], [170605931, 170606192]]	[[170606044, 170606192]]
ENST00000272797	[[170551000, 170551132], [170551724, 170551757], [170553870, 170554041], [170591522, 170592737], [170597894, 170598047], [170605931, 170606314]]	[[170591524, 170592737], [170597894, 170598047], [170605931, 170606242]]
ENST00000602521	[[170553902, 170554041], [170597894, 170598047], [170605931, 170606269]]	[[170606044, 170606242]]
ENST00000392647	[[170590355, 170590597], [170591522, 170592737], [170597894, 170598047], [170605931, 170608398]]	[[170591524, 170592737], [170597894, 170598047], [170605931, 170606242]]
ENST00000437875	[[170592061, 170592737], [170597894, 170598047], [170629829, 170629895]]	[[170592061, 170592737], [170597894, 170598047], [170629829, 170629867]]
ENST00000494387	[[170597506, 170598047], [170605931, 170606010]]	None
ENST00000448589	[[170598002, 170598047], [170632950, 170633499]]	[[170598002, 170598047], [170632950, 170632982]]
NM_144711	[[170590355, 170590597], [170591522, 170592737], [170597894, 170598047], [170605931, 170608396]]	[[170591524, 170592737], [170597894, 170598047], [170605931, 170606242]]

Promoter

Chrom	Start	End	Description
chr2	170550944	170551040	CAGE_peak_1_at_KLHL23_5end,CAGE_peak_1_at_PHOSPHO2_5end
chr2	170590321	170590408	CAGE_peak_2_at_KLHL23_5end
chr2	170590470	170590486	CAGE_peak_3_at_KLHL23_5end
chr2	170590496	170590507	CAGE_peak_7_at_KLHL23_5end
chr2	170590515	170590528	CAGE_peak_5_at_KLHL23_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I169572	169572600	169574540	2.28	[{'connected_gene': 'FASTKD1', 'score': 569.63}, {'connected_gene': 'PHOSPHO2', 'score': 9.01}, {'connected_gene': 'KLHL23', 'score': 5.32}, {'connected_gene': 'GC02M169527', 'score': 0.25}]
chr2	GH02I169761	169761031	169762796	0.87	[{'connected_gene': 'SSB', 'score': 12.38}, {'connected_gene': 'PPIG', 'score': 11.35}, {'connected_gene': 'CCDC173', 'score': 9.83}, {'connected_gene': 'KLHL23', 'score': 9.68}, {'connected_gene': 'PHOSPHO2', 'score': 5.87}, {'connected_gene': 'LOC171417', 'score': 0.77}, {'connected_gene': 'GC02P169749', 'score': 0.39}]
chr2	GH02I169709	169709498	169713599	0.92	[{'connected_gene': 'PHOSPHO2', 'score': 29.65}, {'connected_gene': 'PPIG', 'score': 20.12}, {'connected_gene': 'SSB', 'score': 16.07}, {'connected_gene': 'CCDC173', 'score': 15.9}, {'connected_gene': 'CYB5AP2', 'score': 10.89}, {'connected_gene': 'METTL5', 'score': 10.72}, {'connected_gene': 'UBR3', 'score': 10.71}, {'connected_gene': 'GC02P169728', 'score': 0.37}, {'connected_gene': 'KLHL23', 'score': 0.37}, {'connected_gene': 'PHOSPHO2-KLHL23', 'score': 0.37}]
chr2	GH02I169715	169715149	169717971	1.71	[{'connected_gene': 'PHOSPHO2', 'score': 567.58}, {'connected_gene': 'FASTKD1', 'score': 18.42}, {'connected_gene': 'CCDC173', 'score': 15.24}, {'connected_gene': 'ENSG00000229827', 'score': 5.66}, {'connected_gene': 'GC02P169728', 'score': 0.39}, {'connected_gene': 'PHOSPHO2-KLHL23', 'score': 0.34}, {'connected_gene': 'KLHL23', 'score': 0.34}]
chr2	GH02I169462	169462982	169464277	0.59	[{'connected_gene': 'PHOSPHO2', 'score': 8.68}, {'connected_gene': 'KLHL23', 'score': 5.75}, {'connected_gene': 'BBS5', 'score': 0.37}, {'connected_gene': 'GC02P169409', 'score': 0.23}]
chr2	GH02I169703	169703477	169706721	0.54	[{'connected_gene': 'PHOSPHO2', 'score': 19.08}, {'connected_gene': 'CCDC173', 'score': 16.1}, {'connected_gene': 'SSB', 'score': 15.57}, {'connected_gene': 'CYB5AP2', 'score': 10.38}, {'connected_gene': 'PHOSPHO2-KLHL23', 'score': 0.39}, {'connected_gene': 'KLHL23', 'score': 0.39}, {'connected_gene': 'GC02P169728', 'score': 0.34}]
chr2	GH02I169693	169693439	169696187	2.07	[{'connected_gene': 'PHOSPHO2', 'score': 568.83}, {'connected_gene': 'CCDC173', 'score': 566.82}, {'connected_gene': 'PHOSPHO2-KLHL23', 'score': 550.77}, {'connected_gene': 'KLHL23', 'score': 550.77}, {'connected_gene': 'FASTKD1', 'score': 17.17}, {'connected_gene': 'SSB', 'score': 5.59}, {'connected_gene': 'GC02P169728', 'score': 0.29}]
chr2	GH02I169732	169732894	169735001	1.95	[{'connected_gene': 'KLHL23', 'score': 550.28}, {'connected_gene': 'SSB', 'score': 16.23}, {'connected_gene': 'CYB5AP2', 'score': 11.04}, {'connected_gene': 'CCDC173', 'score': 9.56}, {'connected_gene': 'PHOSPHO2', 'score': 7.5}, {'connected_gene': 'GC02M169725', 'score': 0.77}, {'connected_gene': 'GC02P169749', 'score': 0.37}, {'connected_gene': 'PHOSPHO2-KLHL23', 'score': 0.28}]
chr2	GH02I169494	169494652	169496362	0.2	[{'connected_gene': 'KLHL23', 'score': 5.29}, {'connected_gene': 'KLHL41', 'score': 0.39}, {'connected_gene': 'BBS5', 'score': 0.37}, {'connected_gene': 'ENSG00000251569', 'score': 0.37}]
chr2	GH02I170084	170084419	170086995	1.05	[{'connected_gene': 'MYO3B', 'score': 10.0}, {'connected_gene': 'METTL5', 'score': 8.32}, {'connected_gene': 'UBR3', 'score': 7.58}, {'connected_gene': 'KLHL23', 'score': 6.01}, {'connected_gene': 'SSB', 'score': 5.67}, {'connected_gene': 'LOC100421689', 'score': 0.44}, {'connected_gene': 'RNU6-1006P', 'score': 0.29}]
chr2	GH02I169736	169736601	169737200	0.7	[{'connected_gene': 'CCDC173', 'score': 13.46}, {'connected_gene': 'CYB5AP2', 'score': 11.05}, {'connected_gene': 'SSB', 'score': 11.04}, {'connected_gene': 'UBR3', 'score': 4.91}, {'connected_gene': 'GC02M169725', 'score': 0.44}, {'connected_gene': 'GC02P169749', 'score': 0.39}, {'connected_gene': 'KLHL23', 'score': 0.26}, {'connected_gene': 'PHOSPHO2-KLHL23', 'score': 0.26}]
chr2	GH02I169477	169477886	169480600	2.04	[{'connected_gene': 'BBS5', 'score': 550.77}, {'connected_gene': 'ENSG00000251569', 'score': 550.77}, {'connected_gene': 'PHOSPHO2', 'score': 9.78}, {'connected_gene': 'FASTKD1', 'score': 9.4}, {'connected_gene': 'KLHL23', 'score': 5.38}]
chr2	GH02I169507	169507039	169514924	1.82	[{'connected_gene': 'KLHL41', 'score': 550.77}, {'connected_gene': 'BBS5', 'score': 18.83}, {'connected_gene': 'PPIG', 'score': 17.63}, {'connected_gene': 'CCDC173', 'score': 11.37}, {'connected_gene': 'PHOSPHO2', 'score': 7.79}, {'connected_gene': 'FASTKD1', 'score': 6.7}, {'connected_gene': 'KLHL23', 'score': 5.31}, {'connected_gene': 'GC02P169518', 'score': 0.44}, {'connected_gene': 'ENSG00000251569', 'score': 0.29}]
chr2	GH02I169767	169767391	169767540	0.71	[{'connected_gene': 'PTCHD3P2', 'score': 550.77}, {'connected_gene': 'LOC171417', 'score': 550.77}, {'connected_gene': 'KLHL23', 'score': 0.19}]
chr2	GH02I169341	169341334	169352753	0.78	[{'connected_gene': 'ENSG00000235321', 'score': 10.17}, {'connected_gene': 'SSB', 'score': 5.28}, {'connected_gene': 'KLHL23', 'score': 5.12}, {'connected_gene': 'LRP2', 'score': 0.37}, {'connected_gene': 'GC02P169326', 'score': 0.34}, {'connected_gene': 'GC02M169338', 'score': 0.31}]
chr2	GH02I169775	169775871	169776020	0.67	[{'connected_gene': 'GC02P169777', 'score': 550.77}, {'connected_gene': 'METTL5', 'score': 11.2}, {'connected_gene': 'UBR3', 'score': 11.19}, {'connected_gene': 'PTCHD3P2', 'score': 0.44}, {'connected_gene': 'KLHL23', 'score': 0.18}]