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
ENST00000552521	[[44187525, 44189558], [44190778, 44190900], [44191104, 44191255], [44191510, 44191636], [44193200, 44193305], [44194237, 44194333], [44196088, 44196267], [44198297, 44198375], [44199633, 44199688], [44200023, 44200090]]	[[44189387, 44189558], [44190778, 44190900], [44191104, 44191255], [44191510, 44191636], [44193200, 44193305], [44194237, 44194321]]
ENST00000395510	[[44187525, 44189558], [44190778, 44190900], [44191104, 44191255], [44191510, 44191636], [44193200, 44193305], [44194237, 44194333], [44196088, 44196267], [44198297, 44198375], [44200023, 44200178]]	[[44189387, 44189558], [44190778, 44190900], [44191104, 44191255], [44191510, 44191636], [44193200, 44193305], [44194237, 44194333], [44196088, 44196267], [44198297, 44198375], [44200023, 44200048]]
ENST00000547459	[[44187527, 44189558], [44190778, 44190900], [44191104, 44191255], [44191510, 44191636], [44193200, 44193305], [44194237, 44194333], [44196088, 44196267], [44198297, 44198375], [44199633, 44200065]]	[[44199688, 44200048]]
ENST00000325127	[[44187527, 44189558], [44190778, 44190900], [44191104, 44191255], [44191510, 44191636], [44193200, 44193305], [44194237, 44194333], [44196088, 44196267], [44198297, 44198375], [44200023, 44200178]]	[[44189387, 44189558], [44190778, 44190900], [44191104, 44191255], [44191510, 44191636], [44193200, 44193305], [44194237, 44194333], [44196088, 44196267], [44198297, 44198375], [44200023, 44200150]]
ENST00000548315	[[44189295, 44189558], [44190778, 44190900], [44191104, 44191255], [44191510, 44191636], [44192367, 44192388], [44193200, 44193305], [44194237, 44194333], [44196088, 44196267], [44198297, 44198375], [44200023, 44200052]]	[[44189387, 44189558], [44190778, 44190900], [44191104, 44191255], [44191510, 44191636], [44192367, 44192388], [44193200, 44193305], [44194237, 44194333], [44196088, 44196267], [44198297, 44198375], [44200023, 44200048]]
ENST00000551789	[[44189358, 44189558], [44190778, 44190900], [44191104, 44191255], [44191510, 44191654]]	None
ENST00000546662	[[44191104, 44191255], [44191510, 44191636], [44193200, 44193305], [44194237, 44194333], [44196088, 44196267], [44198297, 44198375], [44199326, 44199440], [44200023, 44200099]]	[[44191104, 44191255], [44191510, 44191636], [44193200, 44193305], [44194237, 44194333], [44196088, 44196267], [44198297, 44198375], [44199326, 44199440], [44200023, 44200048]]
ENST00000550371	[[44193219, 44193305], [44194237, 44194333], [44196088, 44196267], [44197978, 44198043], [44198297, 44198375], [44200023, 44200131]]	[[44196255, 44196267], [44197978, 44198043], [44198297, 44198375], [44200023, 44200048]]
ENST00000548403	[[44193264, 44193305], [44194237, 44194333], [44196088, 44196267], [44200023, 44200103]]	[[44193264, 44193305], [44194237, 44194333], [44196088, 44196267], [44200023, 44200048]]
ENST00000546506	[[44194276, 44194333], [44196088, 44196267], [44198297, 44198375], [44199633, 44199805], [44200023, 44200119]]	[[44194276, 44194321]]
ENST00000547564	[[44196086, 44196267], [44197978, 44198043], [44198297, 44198375], [44199633, 44199805], [44200023, 44200085]]	None
ENST00000547961	[[44197955, 44198375], [44200023, 44200058]]	None
NR_073472	[[44187525, 44189558], [44190778, 44190900], [44191104, 44191255], [44191510, 44191636], [44193200, 44193305], [44194237, 44194333], [44196088, 44196267], [44198297, 44198375], [44199633, 44200178]]	None
NR_073473	[[44187525, 44189558], [44190778, 44190900], [44191104, 44191255], [44191510, 44191636], [44193200, 44193305], [44194237, 44194333], [44196088, 44196267], [44198297, 44198375], [44199633, 44199688], [44200023, 44200178]]	None
NM_001242397	[[44187525, 44189558], [44190778, 44190900], [44191104, 44191255], [44191510, 44191636], [44192367, 44192388], [44193200, 44193305], [44194237, 44194333], [44196088, 44196267], [44198297, 44198375], [44200023, 44200178]]	[[44189387, 44189558], [44190778, 44190900], [44191104, 44191255], [44191510, 44191636], [44192367, 44192388], [44193200, 44193305], [44194237, 44194333], [44196088, 44196267], [44198297, 44198375], [44200023, 44200048]]
NM_002822	[[44187525, 44189558], [44190778, 44190900], [44191104, 44191255], [44191510, 44191636], [44193200, 44193305], [44194237, 44194333], [44196088, 44196267], [44198297, 44198375], [44200023, 44200178]]	[[44189387, 44189558], [44190778, 44190900], [44191104, 44191255], [44191510, 44191636], [44193200, 44193305], [44194237, 44194333], [44196088, 44196267], [44198297, 44198375], [44200023, 44200048]]

Promoter

Chrom	Start	End	Description
chr12	44199877	44199905	CAGE_peak_4_at_TWF1_5end
chr12	44200112	44200136	CAGE_peak_1_at_TWF1_5end
chr12	44200146	44200157	CAGE_peak_2_at_TWF1_5end
chr12	44200404	44200432	CAGE_peak_3_at_TWF1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I043882	43882678	43882827	0.62	[{'connected_gene': 'TMEM117', 'score': 11.3}, {'connected_gene': 'TWF1', 'score': 11.17}, {'connected_gene': 'IRAK4', 'score': 10.35}, {'connected_gene': 'PUS7L', 'score': 10.35}, {'connected_gene': 'GC12M044008', 'score': 0.13}]
chr12	GH12I043844	43844736	43844795	0.5	[{'connected_gene': 'TMEM117', 'score': 550.25}, {'connected_gene': 'TWF1', 'score': 0.28}, {'connected_gene': 'GC12M044008', 'score': 0.1}]
chr12	GH12I043922	43921758	43921947	0.2	[{'connected_gene': 'TMEM117', 'score': 8.29}, {'connected_gene': 'GC12M044008', 'score': 0.17}, {'connected_gene': 'TWF1', 'score': 0.13}]
chr12	GH12I043835	43835400	43837387	1.96	[{'connected_gene': 'TMEM117', 'score': 558.61}, {'connected_gene': 'TWF1', 'score': 5.24}, {'connected_gene': 'GC12M044008', 'score': 0.09}]
chr12	GH12I043861	43861458	43862610	0.43	[{'connected_gene': 'TMEM117', 'score': 8.69}, {'connected_gene': 'TWF1', 'score': 0.22}, {'connected_gene': 'GC12M044008', 'score': 0.11}]
chr12	GH12I043795	43795753	43796634	0.72	[{'connected_gene': 'TMEM117', 'score': 550.77}, {'connected_gene': 'IRAK4', 'score': 11.03}, {'connected_gene': 'PUS7L', 'score': 11.03}, {'connected_gene': 'TWF1', 'score': 6.07}]
chr12	GH12I043846	43846853	43849390	0.74	[{'connected_gene': 'TMEM117', 'score': 11.3}, {'connected_gene': 'IRAK4', 'score': 5.08}, {'connected_gene': 'TWF1', 'score': 0.26}, {'connected_gene': 'GC12M044008', 'score': 0.1}]
chr12	GH12I043829	43829404	43830135	0.6	[{'connected_gene': 'TWF1', 'score': 12.66}, {'connected_gene': 'TMEM117', 'score': 0.29}, {'connected_gene': 'GC12M044008', 'score': 0.09}]
chr12	GH12I043804	43804800	43807633	2.03	[{'connected_gene': 'TWF1', 'score': 560.02}, {'connected_gene': 'PUS7L', 'score': 22.9}, {'connected_gene': 'IRAK4', 'score': 10.84}, {'connected_gene': 'ENSG00000257896', 'score': 10.11}, {'connected_gene': 'TMEM117', 'score': 5.12}]
chr12	GH12I043762	43762269	43763394	0.38	[{'connected_gene': 'TWF1', 'score': 11.1}, {'connected_gene': 'IRAK4', 'score': 0.77}, {'connected_gene': 'TMEM117', 'score': 0.29}]
chr12	GH12I043757	43757706	43760734	2.02	[{'connected_gene': 'IRAK4', 'score': 550.77}, {'connected_gene': 'PUS7L', 'score': 550.77}, {'connected_gene': 'TWF1', 'score': 10.78}, {'connected_gene': 'TMEM117', 'score': 0.28}]
chr12	GH12I043832	43832478	43832627	0.38	[{'connected_gene': 'IRAK4', 'score': 13.39}, {'connected_gene': 'TWF1', 'score': 12.64}, {'connected_gene': 'TMEM117', 'score': 0.28}, {'connected_gene': 'GC12M044008', 'score': 0.1}]
chr12	GH12I043921	43921973	43921987	0.2	[{'connected_gene': 'GC12M044008', 'score': 0.17}, {'connected_gene': 'TMEM117', 'score': 0.13}, {'connected_gene': 'TWF1', 'score': 0.13}]
chr12	GH12I043965	43965038	43965187	0.57	[{'connected_gene': 'GC12M044008', 'score': 0.25}, {'connected_gene': 'TWF1', 'score': 0.1}, {'connected_gene': 'TMEM117', 'score': 0.1}]
chr12	GH12I044000	44000498	44000607	0.63	[{'connected_gene': 'GC12M044008', 'score': 0.44}, {'connected_gene': 'TWF1', 'score': 0.08}, {'connected_gene': 'TMEM117', 'score': 0.08}]
chr12	GH12I043969	43969998	43970147	0.43	[{'connected_gene': 'GC12M044008', 'score': 0.26}, {'connected_gene': 'TWF1', 'score': 0.1}, {'connected_gene': 'TMEM117', 'score': 0.09}]