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
ENST00000393283	[[110550334, 110550566], [110551741, 110552114], [110559359, 110559427], [110561008, 110561120], [110561555, 110561708], [110565750, 110565981], [110566326, 110566472], [110571036, 110571232], [110577272, 110577360], [110579481, 110579691], [110581798, 110581980], [110582063, 110582239], [110582406, 110582530], [110583452, 110583611], [110583877, 110584015], [110584277, 110584424], [110585368, 110585548], [110585641, 110585725], [110588893, 110589029], [110590427, 110590596]]	[[110552042, 110552114], [110559359, 110559427], [110561008, 110561120], [110561555, 110561708], [110565750, 110565981], [110566326, 110566472], [110571036, 110571232], [110577272, 110577360], [110579481, 110579691], [110581798, 110581980], [110582063, 110582239], [110582406, 110582530], [110583452, 110583611], [110583877, 110584015], [110584277, 110584424], [110585368, 110585548], [110585641, 110585725], [110588893, 110589029], [110590427, 110590540]]
ENST00000272454	[[110551850, 110552114], [110559359, 110559427], [110561008, 110561120], [110561555, 110561708], [110565750, 110565981], [110566326, 110566472], [110571036, 110571232], [110577272, 110577360], [110579481, 110579691], [110581798, 110581980], [110582063, 110582239], [110582406, 110582530], [110583452, 110583611], [110583877, 110584015], [110584277, 110584424], [110585368, 110585548], [110585641, 110585725], [110588893, 110589029], [110590427, 110590540]]	[[110552042, 110552114], [110559359, 110559427], [110561008, 110561120], [110561555, 110561708], [110565750, 110565981], [110566326, 110566472], [110571036, 110571232], [110577272, 110577360], [110579481, 110579691], [110581798, 110581980], [110582063, 110582239], [110582406, 110582530], [110583452, 110583611], [110583877, 110584015], [110584277, 110584424], [110585368, 110585548], [110585641, 110585725], [110588893, 110589029], [110590427, 110590540]]
ENST00000430736	[[110551881, 110552114], [110559362, 110559427], [110561008, 110561120], [110561555, 110561708]]	[[110552042, 110552114], [110559362, 110559427], [110561008, 110561120], [110561555, 110561708]]
ENST00000016946	[[110551884, 110552114], [110559359, 110559427], [110561008, 110561120], [110561555, 110561708], [110565750, 110565981], [110566326, 110566472], [110571036, 110571232], [110577272, 110577360], [110579481, 110579691], [110581798, 110581980], [110582063, 110582239], [110582406, 110582530], [110583452, 110583611], [110583877, 110584015], [110584277, 110584424], [110585368, 110585548], [110585641, 110585725], [110588893, 110589029], [110592573, 110592668], [110593395, 110595619], [110602679, 110602819], [110605386, 110605588], [110613438, 110615270]]	[[110552042, 110552114], [110559359, 110559427], [110561008, 110561120], [110561555, 110561708], [110565750, 110565981], [110566326, 110566472], [110571036, 110571232], [110577272, 110577360], [110579481, 110579691], [110581798, 110581980], [110582063, 110582239], [110582406, 110582530], [110583452, 110583611], [110583877, 110584015], [110584277, 110584424], [110585368, 110585548], [110585641, 110585725], [110588893, 110589029], [110592573, 110592668], [110593395, 110595619], [110602679, 110602819], [110605386, 110605588], [110613438, 110613473]]
ENST00000441344	[[110551976, 110552114], [110561008, 110561120], [110561555, 110561708], [110565750, 110565888]]	[[110552061, 110552114], [110561008, 110561120], [110561555, 110561708], [110565750, 110565888]]
ENST00000432606	[[110552261, 110552653], [110559359, 110559427], [110561008, 110561116]]	[[110559365, 110559427], [110561008, 110561116]]
ENST00000482778	[[110560888, 110561120], [110561555, 110561728]]	None
ENST00000472794	[[110561051, 110561120], [110561555, 110562132]]	None
ENST00000413468	[[110561648, 110561708], [110565750, 110565981], [110571036, 110571232], [110577272, 110577360], [110579626, 110579691], [110581798, 110581980], [110582063, 110582239], [110582386, 110582530], [110583452, 110583611], [110583877, 110584015], [110584277, 110584424], [110585368, 110585548], [110585641, 110585725], [110588893, 110589029], [110592573, 110592668], [110593395, 110593493]]	[[110561648, 110561708], [110565750, 110565981], [110571036, 110571042]]
ENST00000495473	[[110565813, 110565981], [110571036, 110571348]]	None
ENST00000493394	[[110576754, 110577360], [110579481, 110579691], [110581798, 110581942]]	None
ENST00000495582	[[110595459, 110595619], [110596510, 110596570]]	None
ENST00000477523	[[110597953, 110602819], [110605386, 110605588], [110613438, 110615272]]	None
NM_032260	[[110550334, 110550566], [110551741, 110552114], [110559359, 110559427], [110561008, 110561120], [110561555, 110561708], [110565750, 110565981], [110566326, 110566472], [110571036, 110571232], [110577272, 110577360], [110579481, 110579691], [110581798, 110581980], [110582063, 110582239], [110582406, 110582530], [110583452, 110583611], [110583877, 110584015], [110584277, 110584424], [110585368, 110585548], [110585641, 110585725], [110588893, 110589029], [110590427, 110590596]]	[[110552042, 110552114], [110559359, 110559427], [110561008, 110561120], [110561555, 110561708], [110565750, 110565981], [110566326, 110566472], [110571036, 110571232], [110577272, 110577360], [110579481, 110579691], [110581798, 110581980], [110582063, 110582239], [110582406, 110582530], [110583452, 110583611], [110583877, 110584015], [110584277, 110584424], [110585368, 110585548], [110585641, 110585725], [110588893, 110589029], [110590427, 110590540]]
NM_005054	[[110551965, 110552114], [110559359, 110559427], [110561008, 110561120], [110561555, 110561708], [110565750, 110565981], [110566326, 110566472], [110571036, 110571232], [110577272, 110577360], [110579481, 110579691], [110581798, 110581980], [110582063, 110582239], [110582406, 110582530], [110583452, 110583611], [110583877, 110584015], [110584277, 110584424], [110585368, 110585548], [110585641, 110585725], [110588893, 110589029], [110592573, 110592668], [110593395, 110595619], [110602679, 110602819], [110605386, 110605588], [110613438, 110615263]]	[[110552042, 110552114], [110559359, 110559427], [110561008, 110561120], [110561555, 110561708], [110565750, 110565981], [110566326, 110566472], [110571036, 110571232], [110577272, 110577360], [110579481, 110579691], [110581798, 110581980], [110582063, 110582239], [110582406, 110582530], [110583452, 110583611], [110583877, 110584015], [110584277, 110584424], [110585368, 110585548], [110585641, 110585725], [110588893, 110589029], [110592573, 110592668], [110593395, 110595619], [110602679, 110602819], [110605386, 110605588], [110613438, 110613473]]

Promoter

Chrom	Start	End	Description
chr2	110551872	110551888	CAGE_peak_1_at_RGPD5_5end,CAGE_peak_1_at_RGPD6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I109661	109661575	109664750	0.63	[{'connected_gene': 'RGPD5', 'score': 5.84}, {'connected_gene': 'LIMS3', 'score': 5.15}, {'connected_gene': 'ENSG00000186148', 'score': 4.56}, {'connected_gene': 'SOWAHC', 'score': 4.19}, {'connected_gene': 'ENSG00000230603', 'score': 0.77}, {'connected_gene': 'GC02M109643', 'score': 0.37}, {'connected_gene': 'GC02M109642', 'score': 0.22}, {'connected_gene': 'GC02M109641', 'score': 0.22}]
chr2	GH02I109794	109794001	109795801	1	[{'connected_gene': 'GC02P109796', 'score': 550.77}, {'connected_gene': 'RGPD5', 'score': 550.29}, {'connected_gene': 'PIR53476', 'score': 0.29}]
chr2	GH02I109781	109781072	109781800	0.2	[{'connected_gene': 'GC02P109796', 'score': 0.39}, {'connected_gene': 'PIR53476', 'score': 0.37}, {'connected_gene': 'RGPD5', 'score': 0.34}]
chr2	GH02I109760	109760200	109761001	0.5	[{'connected_gene': 'PIR53476', 'score': 550.77}, {'connected_gene': 'LOC100506563', 'score': 550.77}, {'connected_gene': 'RGPD5', 'score': 550.77}]