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
ENST00000273375	[[120405527, 120408735], [120409295, 120409334], [120412999, 120413071], [120417269, 120417420], [120424846, 120424961], [120428626, 120428756], [120449542, 120449634], [120461308, 120461384]]	[[120408669, 120408735], [120409295, 120409334], [120412999, 120413071], [120417269, 120417420], [120424846, 120424961], [120428626, 120428756], [120449542, 120449634], [120461308, 120461354]]
ENST00000473654	[[120407443, 120408735], [120409295, 120409334], [120412999, 120413071], [120417269, 120417367], [120424846, 120424961], [120428626, 120428756], [120449542, 120449634], [120461308, 120461840]]	[[120417360, 120417367], [120424846, 120424961], [120428626, 120428756], [120449542, 120449634], [120461308, 120461354]]
ENST00000485161	[[120407542, 120408735], [120409295, 120409334], [120412999, 120413071], [120417269, 120417420], [120424846, 120424961], [120449542, 120449634], [120461308, 120461361]]	[[120424937, 120424961], [120449542, 120449634], [120461308, 120461354]]
ENST00000481015	[[120408264, 120408735], [120409295, 120409334], [120412999, 120413071], [120424846, 120424961], [120449542, 120449634], [120461308, 120461352]]	[[120424937, 120424961], [120449542, 120449634], [120461308, 120461352]]
ENST00000465022	[[120408393, 120408735], [120409295, 120409334], [120412999, 120413071], [120424846, 120424961], [120428626, 120428756], [120449542, 120449634], [120461308, 120461357]]	[[120413046, 120413071], [120424846, 120424961], [120428626, 120428756], [120449542, 120449634], [120461308, 120461354]]
ENST00000491398	[[120408540, 120408735], [120409295, 120409334], [120412999, 120413071], [120417269, 120417420], [120424846, 120424961], [120428626, 120428756], [120449542, 120449634], [120457373, 120457514], [120461308, 120461380]]	None
ENST00000483733	[[120408561, 120408735], [120409295, 120409334], [120417269, 120417420], [120424846, 120424961], [120428626, 120428756], [120449542, 120449634], [120461308, 120461367]]	[[120408669, 120408735], [120409295, 120409334], [120417269, 120417420], [120424846, 120424961], [120428626, 120428756], [120449542, 120449634], [120461308, 120461354]]
ENST00000468192	[[120412999, 120413071], [120417269, 120417420], [120424846, 120424961], [120428626, 120428756], [120429189, 120429393]]	None
NM_173825	[[120405527, 120408735], [120409295, 120409334], [120412999, 120413071], [120417269, 120417420], [120424846, 120424961], [120428626, 120428756], [120449542, 120449634], [120461308, 120461384]]	[[120408669, 120408735], [120409295, 120409334], [120412999, 120413071], [120417269, 120417420], [120424846, 120424961], [120428626, 120428756], [120449542, 120449634], [120461308, 120461354]]

Promoter

Chrom	Start	End	Description
chr3	120429306	120429317	CAGE_peak_4_at_RABL3_5end
chr3	120429336	120429355	CAGE_peak_3_at_RABL3_5end
chr3	120461353	120461374	CAGE_peak_1_at_RABL3_5end
chr3	120461378	120461389	CAGE_peak_2_at_RABL3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I120595	120595330	120597946	1.94	[{'connected_gene': 'NDUFB4', 'score': 557.61}, {'connected_gene': 'GTF2E1', 'score': 11.18}, {'connected_gene': 'RABL3', 'score': 11.18}, {'connected_gene': 'PIR48626', 'score': 0.44}]
chr3	GH03I120641	120641916	120643342	1.55	[{'connected_gene': 'HGD', 'score': 11.12}, {'connected_gene': 'GTF2E1', 'score': 11.1}, {'connected_gene': 'RABL3', 'score': 11.1}, {'connected_gene': 'PIR48626', 'score': 0.26}]
chr3	GH03I120691	120691803	120694831	1.02	[{'connected_gene': 'HGD', 'score': 7.12}, {'connected_gene': 'GTF2E1', 'score': 5.7}, {'connected_gene': 'MTCO1P29', 'score': 0.31}, {'connected_gene': 'RABL3', 'score': 0.25}]
chr3	GH03I120791	120791462	120793120	0.74	[{'connected_gene': 'HGD', 'score': 6.8}, {'connected_gene': 'RABL3', 'score': 6.03}, {'connected_gene': 'GTF2E1', 'score': 5.24}, {'connected_gene': 'NAP1L1P3', 'score': 0.39}]
chr3	GH03I120677	120677703	120683528	1.93	[{'connected_gene': 'HGD', 'score': 550.77}, {'connected_gene': 'RABL3', 'score': 4.51}, {'connected_gene': 'PIR48626', 'score': 0.18}]
chr3	GH03I120719	120719150	120720323	0.89	[{'connected_gene': 'HGD', 'score': 11.11}, {'connected_gene': 'MTCO1P29', 'score': 0.77}, {'connected_gene': 'RABL3', 'score': 0.34}]
chr3	GH03I120687	120687808	120688783	0.79	[{'connected_gene': 'GTF2E1', 'score': 6.84}, {'connected_gene': 'HGD', 'score': 0.44}, {'connected_gene': 'MTCO1P29', 'score': 0.29}, {'connected_gene': 'RABL3', 'score': 0.23}]
chr3	GH03I120780	120780317	120782032	0.95	[{'connected_gene': 'GTF2E1', 'score': 5.24}, {'connected_gene': 'HGD', 'score': 4.52}, {'connected_gene': 'NAP1L1P3', 'score': 0.34}, {'connected_gene': 'RABL3', 'score': 0.28}]
chr3	GH03I120774	120774632	120775161	0.34	[{'connected_gene': 'GTF2E1', 'score': 11.87}, {'connected_gene': 'RABL3', 'score': 11.87}, {'connected_gene': 'HGD', 'score': 10.04}, {'connected_gene': 'NAP1L1P3', 'score': 0.29}]
chr3	GH03I120741	120741252	120744330	2.04	[{'connected_gene': 'GTF2E1', 'score': 557.7}, {'connected_gene': 'RABL3', 'score': 550.77}]
chr3	GH03I120794	120794431	120795400	0.89	[{'connected_gene': 'GTF2E1', 'score': 5.0}, {'connected_gene': 'NAP1L1P3', 'score': 0.39}, {'connected_gene': 'RABL3', 'score': 0.23}]