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
ENST00000440781	[[44152746, 44152819], [44165982, 44166165], [44166714, 44166875], [44167767, 44167832], [44171432, 44171547], [44171995, 44172105], [44176109, 44176293], [44177464, 44177527], [44180201, 44180360], [44180482, 44180778]]	[[44166047, 44166165], [44166714, 44166875], [44167767, 44167832], [44171432, 44171547], [44171995, 44172105], [44176109, 44176293], [44177464, 44177527], [44180201, 44180360], [44180482, 44180518]]
ENST00000431837	[[44152746, 44152819], [44161905, 44162075], [44165982, 44166165], [44166714, 44166875], [44167767, 44167832], [44171432, 44171547], [44171995, 44172105], [44176109, 44176293], [44177464, 44177527], [44180201, 44180360], [44180482, 44183346]]	[[44166047, 44166165], [44166714, 44166875], [44167767, 44167832], [44171432, 44171547], [44171995, 44172105], [44176109, 44176293], [44177464, 44177527], [44180201, 44180360], [44180482, 44180518]]
ENST00000550615	[[44152752, 44152819], [44161905, 44162075], [44165982, 44166165], [44166714, 44166875], [44167767, 44167832], [44171432, 44171547], [44171995, 44172105], [44176109, 44176293], [44177464, 44177527], [44180201, 44180360], [44180482, 44180553]]	[[44161914, 44162075], [44165982, 44166004]]
ENST00000547521	[[44152753, 44153395], [44154727, 44154775], [44161905, 44162075], [44165982, 44166165], [44166714, 44166875], [44167767, 44167832], [44171432, 44171547], [44171995, 44172105], [44176109, 44176293], [44177464, 44177527], [44180201, 44180217]]	[[44161914, 44162075], [44165982, 44166004]]
ENST00000448290	[[44152757, 44152819], [44161905, 44162075], [44165022, 44165168], [44165982, 44166165], [44166714, 44166875], [44167767, 44167832], [44171432, 44171547], [44171995, 44172105], [44176109, 44176293], [44177464, 44177527], [44180201, 44180360], [44180482, 44181899]]	[[44161914, 44162075], [44165022, 44165168], [44165982, 44166165], [44166714, 44166875], [44167767, 44167832], [44171432, 44171547], [44171995, 44172105], [44176109, 44176293], [44177464, 44177527], [44180201, 44180360], [44180482, 44180518]]
ENST00000550386	[[44152763, 44152819], [44154727, 44154775], [44161905, 44162075], [44164840, 44164907], [44165022, 44165168], [44165982, 44166165], [44166714, 44166875], [44167767, 44167832], [44171432, 44171547], [44171995, 44172105], [44176109, 44176293], [44177464, 44177527], [44180201, 44180360], [44180482, 44180706]]	[[44161914, 44162075], [44164840, 44164844]]
ENST00000551736	[[44152763, 44152819], [44154727, 44154775], [44161905, 44162075], [44165022, 44165168], [44165982, 44166165], [44166714, 44166875], [44167767, 44167832], [44171432, 44171547], [44171995, 44172105], [44176109, 44176293], [44177464, 44177527], [44180201, 44180360], [44180482, 44180706]]	[[44161914, 44162075], [44165022, 44165168], [44165982, 44166165], [44166714, 44166875], [44167767, 44167832], [44171432, 44171547], [44171995, 44172105], [44176109, 44176293], [44177464, 44177527], [44180201, 44180360], [44180482, 44180518]]
ENST00000547101	[[44152763, 44152819], [44161905, 44162075], [44164840, 44164907], [44165022, 44165168], [44165982, 44166165], [44166714, 44166875], [44167767, 44167832], [44171432, 44171547], [44171995, 44172105], [44176109, 44176293], [44177464, 44177527], [44180201, 44180360], [44180482, 44180706]]	[[44161914, 44162075], [44164840, 44164844]]
ENST00000552309	[[44152769, 44152819], [44154727, 44154775], [44161905, 44162075], [44165982, 44166165], [44166714, 44166789], [44167767, 44167832], [44171432, 44171547], [44171995, 44172105], [44176109, 44176293]]	[[44161914, 44162075], [44165982, 44166004]]
ENST00000547928	[[44167597, 44167832], [44171432, 44171547], [44171995, 44172105], [44176109, 44176275]]	None
ENST00000550616	[[44152752, 44152819], [44154727, 44154775], [44157104, 44157259], [44161905, 44162075], [44165022, 44165129]]	[[44161914, 44162075], [44165022, 44165129]]
ENST00000546780	[[44152769, 44152819], [44161905, 44162395]]	None
ENST00000550361	[[44152838, 44153003], [44161905, 44162075], [44165982, 44166165], [44166714, 44166759]]	[[44161914, 44162075], [44165982, 44166004]]
NM_001145258	[[44152746, 44152819], [44165982, 44166165], [44166714, 44166875], [44167767, 44167832], [44171432, 44171547], [44171995, 44172105], [44176109, 44176293], [44177464, 44177527], [44180201, 44180360], [44180482, 44183346]]	[[44166047, 44166165], [44166714, 44166875], [44167767, 44167832], [44171432, 44171547], [44171995, 44172105], [44176109, 44176293], [44177464, 44177527], [44180201, 44180360], [44180482, 44180518]]
NM_001145257	[[44152746, 44152819], [44161905, 44162075], [44165982, 44166165], [44166714, 44166875], [44167767, 44167832], [44171432, 44171547], [44171995, 44172105], [44176109, 44176293], [44177464, 44177527], [44180201, 44180360], [44180482, 44183346]]	[[44166047, 44166165], [44166714, 44166875], [44167767, 44167832], [44171432, 44171547], [44171995, 44172105], [44176109, 44176293], [44177464, 44177527], [44180201, 44180360], [44180482, 44180518]]
NM_016123	[[44152746, 44152819], [44161905, 44162075], [44165022, 44165168], [44165982, 44166165], [44166714, 44166875], [44167767, 44167832], [44171432, 44171547], [44171995, 44172105], [44176109, 44176293], [44177464, 44177527], [44180201, 44180360], [44180482, 44183346]]	[[44161914, 44162075], [44165022, 44165168], [44165982, 44166165], [44166714, 44166875], [44167767, 44167832], [44171432, 44171547], [44171995, 44172105], [44176109, 44176293], [44177464, 44177527], [44180201, 44180360], [44180482, 44180518]]
NM_001145256	[[44152746, 44152819], [44154727, 44154775], [44161905, 44162075], [44165982, 44166165], [44166714, 44166875], [44167767, 44167832], [44171432, 44171547], [44171995, 44172105], [44176109, 44176293], [44177464, 44177527], [44180201, 44180360], [44180482, 44183346]]	[[44166047, 44166165], [44166714, 44166875], [44167767, 44167832], [44171432, 44171547], [44171995, 44172105], [44176109, 44176293], [44177464, 44177527], [44180201, 44180360], [44180482, 44180518]]
NM_001114182	[[44152746, 44152819], [44154727, 44154775], [44161905, 44162075], [44165022, 44165168], [44165982, 44166165], [44166714, 44166875], [44167767, 44167832], [44171432, 44171547], [44171995, 44172105], [44176109, 44176293], [44177464, 44177527], [44180201, 44180360], [44180482, 44183346]]	[[44161914, 44162075], [44165022, 44165168], [44165982, 44166165], [44166714, 44166875], [44167767, 44167832], [44171432, 44171547], [44171995, 44172105], [44176109, 44176293], [44177464, 44177527], [44180201, 44180360], [44180482, 44180518]]

Promoter

Chrom	Start	End	Description
chr12	44152740	44152815	CAGE_peak_1_at_IRAK4_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	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	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	GH12I043737	43737738	43737927	0.31	[{'connected_gene': 'ENSG00000257896', 'score': 550.77}, {'connected_gene': 'IRAK4', 'score': 12.37}, {'connected_gene': 'PUS7L', 'score': 12.37}]