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
ENST00000484715	[[120461483, 120461641], [120468591, 120468798], [120469369, 120469547]]	[[120469399, 120469547]]
ENST00000469772	[[120461578, 120461641], [120489574, 120489776], [120495269, 120495507]]	[[120489627, 120489776], [120495269, 120495507]]
ENST00000283875	[[120461578, 120461641], [120469369, 120469847], [120489574, 120489776], [120495269, 120495511], [120499889, 120501916]]	[[120469399, 120469847], [120489574, 120489776], [120495269, 120495511], [120499889, 120500317]]
ENST00000492959	[[120461590, 120461641], [120468694, 120468798], [120469369, 120469765]]	[[120469399, 120469765]]
ENST00000497393	[[120461608, 120461641], [120469369, 120469903]]	None
NM_005513	[[120461557, 120461641], [120469369, 120469847], [120489574, 120489776], [120495269, 120495511], [120499889, 120501916]]	[[120469399, 120469847], [120489574, 120489776], [120495269, 120495511], [120499889, 120500317]]

Promoter

Chrom	Start	End	Description
chr3	120461572	120461600	CAGE_peak_1_at_GTF2E1_5end
chr3	120461601	120461614	CAGE_peak_2_at_GTF2E1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I121544	121544639	121547108	1.99	[{'connected_gene': 'POLQ', 'score': 550.77}, {'connected_gene': 'IQCB1', 'score': 26.38}, {'connected_gene': 'GOLGB1', 'score': 21.69}, {'connected_gene': 'LOC102723582', 'score': 11.27}, {'connected_gene': 'GTF2E1', 'score': 10.86}, {'connected_gene': 'STXBP5L', 'score': 8.57}, {'connected_gene': 'RPL7AP11', 'score': 0.23}, {'connected_gene': 'GC03M121324', 'score': 0.04}]
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	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}]