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
ENST00000295240	[[170335687, 170336122], [170338760, 170338843], [170343578, 170343644], [170344315, 170344365], [170344496, 170344624], [170349383, 170349519], [170350250, 170350346], [170354136, 170354199], [170355995, 170356130], [170359604, 170359688], [170360812, 170360836], [170360990, 170363165]]	[[170336063, 170336122], [170338760, 170338843], [170343578, 170343644], [170344315, 170344365], [170344496, 170344624], [170349383, 170349519], [170350250, 170350346], [170354136, 170354199], [170355995, 170356130], [170359604, 170359688], [170360812, 170360836], [170360990, 170361092]]
ENST00000469980	[[170335989, 170336122], [170338760, 170339220]]	None
ENST00000554017	[[170335989, 170336122], [170338760, 170338843], [170343578, 170343644], [170344315, 170344365], [170344496, 170344624], [170349383, 170349519], [170350250, 170350346], [170354136, 170354199], [170355995, 170356130], [170359604, 170359688], [170360812, 170360836], [170371083, 170371241], [170371363, 170371471], [170374699, 170374885], [170377370, 170377517], [170382094, 170382432]]	[[170336063, 170336122], [170338760, 170338843], [170343578, 170343644], [170344315, 170344365], [170344496, 170344624], [170349383, 170349519], [170350250, 170350346], [170354136, 170354199], [170355995, 170356130], [170359604, 170359688], [170360812, 170360836], [170371083, 170371241], [170371363, 170371471], [170374699, 170374885], [170377370, 170377517], [170382094, 170382206]]
ENST00000392663	[[170335992, 170336122], [170338760, 170338843], [170343578, 170343644], [170344315, 170344365], [170344496, 170344624], [170349383, 170349519], [170350250, 170350346], [170355995, 170356130], [170359604, 170359688], [170360812, 170360836], [170360990, 170363165]]	[[170336063, 170336122], [170338760, 170338843], [170343578, 170343644], [170344315, 170344365], [170344496, 170344624], [170349383, 170349519], [170350250, 170350346], [170355995, 170356130], [170359604, 170359688], [170360812, 170360836], [170360990, 170361092]]
ENST00000443151	[[170336011, 170336122], [170338760, 170338843], [170344496, 170344624], [170349383, 170349519], [170350250, 170350346], [170354136, 170354165]]	[[170336063, 170336122], [170338760, 170338843], [170344496, 170344516]]
ENST00000475571	[[170344271, 170344624], [170349383, 170349596]]	None
ENST00000472667	[[170355543, 170356130], [170359604, 170359688], [170360812, 170360836], [170360990, 170363000]]	None
NM_152384	[[170336005, 170336122], [170338760, 170338843], [170343578, 170343644], [170344315, 170344365], [170344496, 170344624], [170349383, 170349519], [170350250, 170350346], [170354136, 170354199], [170355995, 170356130], [170359604, 170359688], [170360812, 170360836], [170360990, 170363165]]	[[170336063, 170336122], [170338760, 170338843], [170343578, 170343644], [170344315, 170344365], [170344496, 170344624], [170349383, 170349519], [170350250, 170350346], [170354136, 170354199], [170355995, 170356130], [170359604, 170359688], [170360812, 170360836], [170360990, 170361092]]

Promoter

Chrom	Start	End	Description
chr2	170335297	170335305	CAGE_peak_2_at_BBS5_5end
chr2	170335924	170336039	CAGE_peak_1_at_BBS5_5end,CAGE_peak_2_at_KBTBD10_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
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	GH02I169504	169504389	169505128	0.31	[{'connected_gene': 'PHOSPHO2', 'score': 10.03}, {'connected_gene': 'KLHL41', 'score': 0.77}, {'connected_gene': 'BBS5', 'score': 0.31}, {'connected_gene': 'ENSG00000251569', 'score': 0.31}]
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	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}]