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
ENST00000366676	[[229728857, 229730841], [229737941, 229738666], [229745852, 229745957], [229750087, 229750229]]	[[229730043, 229730841], [229737941, 229738666], [229745852, 229745957], [229750087, 229750229]]
ENST00000258281	[[229728867, 229730841], [229737941, 229738666], [229745852, 229745957], [229750087, 229750232], [229761631, 229761794]]	[[229730043, 229730841], [229737941, 229738666], [229745852, 229745957], [229750087, 229750229]]
ENST00000366675	[[229734940, 229738666], [229745852, 229745957], [229750087, 229750232], [229761631, 229761717]]	[[229737935, 229738666], [229745852, 229745957], [229750087, 229750229]]
ENST00000477957	[[229742580, 229742623], [229743520, 229743582], [229745852, 229745957], [229750087, 229750232], [229761631, 229761785]]	None
ENST00000366674	[[229749903, 229750232], [229761631, 229761794]]	[[229749974, 229750229]]
NM_014409	[[229728857, 229730841], [229737941, 229738666], [229745852, 229745957], [229750087, 229750232], [229761631, 229761794]]	[[229730043, 229730841], [229737941, 229738666], [229745852, 229745957], [229750087, 229750229]]
NM_001025247	[[229734940, 229738666], [229745852, 229745957], [229750087, 229750232], [229761631, 229761794]]	[[229737935, 229738666], [229745852, 229745957], [229750087, 229750229]]

Promoter

Chrom	Start	End	Description
chr1	229761798	229761896	CAGE_peak_1_at_TAF5L_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I229624	229624640	229627764	2.07	[{'connected_gene': 'URB2', 'score': 572.15}, {'connected_gene': 'TAF5L', 'score': 550.77}, {'connected_gene': 'NUP133', 'score': 31.17}, {'connected_gene': 'ABCB10', 'score': 10.89}]
chr1	GH01I228840	228840993	228843069	1.57	[{'connected_gene': 'CICP26', 'score': 31.91}, {'connected_gene': 'ENSG00000269890', 'score': 22.03}, {'connected_gene': 'HMGN2P19', 'score': 20.54}, {'connected_gene': 'NUP133', 'score': 13.24}, {'connected_gene': 'TAF5L', 'score': 11.12}, {'connected_gene': 'BTNL10', 'score': 10.92}, {'connected_gene': 'ABCB10', 'score': 10.68}, {'connected_gene': 'ENSG00000226920', 'score': 10.01}, {'connected_gene': 'DUSP5P1', 'score': 10.01}, {'connected_gene': 'ENSG00000271399', 'score': 9.95}, {'connected_gene': 'HIST3H3', 'score': 9.94}, {'connected_gene': 'C1orf35', 'score': 9.77}, {'connected_gene': 'URB2', 'score': 9.7}, {'connected_gene': 'RHOU', 'score': 1.38}, {'connected_gene': 'GC01M228858', 'score': 0.28}]
chr1	GH01I229267	229267960	229273343	2.46	[{'connected_gene': 'RAB4A', 'score': 556.0}, {'connected_gene': 'LOC105373159', 'score': 550.77}, {'connected_gene': 'NUP133', 'score': 58.34}, {'connected_gene': 'URB2', 'score': 31.69}, {'connected_gene': 'ENSG00000269890', 'score': 21.46}, {'connected_gene': 'HIST3H3', 'score': 18.71}, {'connected_gene': 'CCSAP', 'score': 11.35}, {'connected_gene': 'TAF5L', 'score': 11.15}, {'connected_gene': 'TMEM78', 'score': 10.83}, {'connected_gene': 'ABCB10', 'score': 10.72}, {'connected_gene': 'ENSG00000226920', 'score': 10.08}, {'connected_gene': 'DUSP5P1', 'score': 9.95}, {'connected_gene': 'HMGN2P19', 'score': 9.91}, {'connected_gene': 'PIR40038', 'score': 0.44}, {'connected_gene': 'GC01M228906', 'score': 0.23}]
chr1	GH01I229219	229219696	229224196	1.74	[{'connected_gene': 'NUP133', 'score': 110.44}, {'connected_gene': 'ENSG00000269890', 'score': 51.34}, {'connected_gene': 'URB2', 'score': 40.46}, {'connected_gene': 'HMGN2P19', 'score': 29.8}, {'connected_gene': 'LOC105373159', 'score': 27.96}, {'connected_gene': 'LOC105373158', 'score': 25.02}, {'connected_gene': 'ENSG00000226920', 'score': 22.93}, {'connected_gene': 'HIST3H3', 'score': 19.66}, {'connected_gene': 'TAF5L', 'score': 11.14}, {'connected_gene': 'ABCB10', 'score': 10.71}, {'connected_gene': 'DUSP5P1', 'score': 9.95}, {'connected_gene': 'RAB4A', 'score': 2.01}, {'connected_gene': 'ENSG00000233920', 'score': 0.44}, {'connected_gene': 'GC01M228906', 'score': 0.15}]
chr1	GH01I228781	228781194	228784931	1.7	[{'connected_gene': 'NUP133', 'score': 144.13}, {'connected_gene': 'CICP26', 'score': 125.89}, {'connected_gene': 'C1orf35', 'score': 96.4}, {'connected_gene': 'ENSG00000269890', 'score': 51.26}, {'connected_gene': 'HMGN2P19', 'score': 32.32}, {'connected_gene': 'ABCB10', 'score': 28.22}, {'connected_gene': 'HIST3H3', 'score': 27.97}, {'connected_gene': 'TAF5L', 'score': 27.68}, {'connected_gene': 'URB2', 'score': 16.08}, {'connected_gene': 'LOC105373159', 'score': 11.9}, {'connected_gene': 'MRPL55', 'score': 10.4}, {'connected_gene': 'TMEM78', 'score': 9.91}, {'connected_gene': 'RHOU', 'score': 6.46}, {'connected_gene': 'WNT3A', 'score': 5.45}, {'connected_gene': 'LOC100421842', 'score': 0.44}, {'connected_gene': 'GC01M228858', 'score': 0.37}]
chr1	GH01I230121	230121981	230127600	1.68	[{'connected_gene': 'NUP133', 'score': 12.96}, {'connected_gene': 'TAF5L', 'score': 11.49}, {'connected_gene': 'URB2', 'score': 10.4}, {'connected_gene': 'ABCB10', 'score': 10.24}, {'connected_gene': 'COG2', 'score': 9.84}, {'connected_gene': 'GALNT2', 'score': 6.29}, {'connected_gene': 'GC01P230113', 'score': 0.39}, {'connected_gene': 'GC01M230200', 'score': 0.13}]
chr1	GH01I230156	230156794	230161890	1.4	[{'connected_gene': 'NUP133', 'score': 12.97}, {'connected_gene': 'TAF5L', 'score': 11.48}, {'connected_gene': 'URB2', 'score': 10.39}, {'connected_gene': 'ABCB10', 'score': 10.25}, {'connected_gene': 'COG2', 'score': 9.85}, {'connected_gene': 'GC01P230113', 'score': 0.25}, {'connected_gene': 'GC01M230200', 'score': 0.17}, {'connected_gene': 'GALNT2', 'score': 0.15}]
chr1	GH01I230500	230500929	230504528	0.69	[{'connected_gene': 'NUP133', 'score': 24.03}, {'connected_gene': 'C1orf131', 'score': 13.86}, {'connected_gene': 'TAF5L', 'score': 11.12}, {'connected_gene': 'ABCB10', 'score': 10.68}, {'connected_gene': 'HMGN2P19', 'score': 9.88}, {'connected_gene': 'URB2', 'score': 9.7}, {'connected_gene': 'LOC105373164', 'score': 0.44}, {'connected_gene': 'LOC105373165', 'score': 0.25}]
chr1	GH01I229252	229252172	229255138	1.53	[{'connected_gene': 'NUP133', 'score': 26.25}, {'connected_gene': 'ENSG00000269890', 'score': 19.43}, {'connected_gene': 'HMGN2P19', 'score': 10.8}, {'connected_gene': 'TAF5L', 'score': 10.77}, {'connected_gene': 'ACTA1', 'score': 10.16}, {'connected_gene': 'ENSG00000226920', 'score': 10.07}, {'connected_gene': 'ABCB10', 'score': 9.98}, {'connected_gene': 'DUSP5P1', 'score': 9.95}, {'connected_gene': 'LOC105373158', 'score': 8.6}, {'connected_gene': 'CCSAP', 'score': 2.73}, {'connected_gene': 'URB2', 'score': 1.95}, {'connected_gene': 'RAB4A', 'score': 1.95}, {'connected_gene': 'LOC102723935', 'score': 0.77}, {'connected_gene': 'TMEM78', 'score': 0.77}, {'connected_gene': 'GC01M228906', 'score': 0.2}]
chr1	GH01I229596	229596274	229598151	0.43	[{'connected_gene': 'NUP133', 'score': 4.53}, {'connected_gene': 'GC01M229599', 'score': 0.77}, {'connected_gene': 'HMGN2P19', 'score': 0.31}, {'connected_gene': 'TAF5L', 'score': 0.31}]
chr1	GH01I230208	230208229	230213400	1.2	[{'connected_gene': 'GALNT2', 'score': 14.51}, {'connected_gene': 'NUP133', 'score': 13.24}, {'connected_gene': 'TAF5L', 'score': 11.12}, {'connected_gene': 'ABCB10', 'score': 10.68}, {'connected_gene': 'HMGN2P19', 'score': 9.88}, {'connected_gene': 'URB2', 'score': 9.7}, {'connected_gene': 'LOC644006', 'score': 6.86}, {'connected_gene': 'GC01M230200', 'score': 0.29}, {'connected_gene': 'GC01P230113', 'score': 0.15}]
chr1	GH01I229556	229556975	229559945	2.36	[{'connected_gene': 'ABCB10', 'score': 553.9}, {'connected_gene': 'HMGN2P19', 'score': 35.52}, {'connected_gene': 'NUP133', 'score': 1.72}, {'connected_gene': 'TAF5L', 'score': 1.56}, {'connected_gene': 'RNA5SP78', 'score': 0.44}]
chr1	GH01I229182	229182143	229184352	0.46	[{'connected_gene': 'LOC105373158', 'score': 597.13}, {'connected_gene': 'GC01M229181', 'score': 550.77}, {'connected_gene': 'HMGN2P19', 'score': 10.99}, {'connected_gene': 'NUP133', 'score': 10.41}, {'connected_gene': 'TMEM78', 'score': 10.22}, {'connected_gene': 'TAF5L', 'score': 10.13}, {'connected_gene': 'GC01M228906', 'score': 0.12}]
chr1	GH01I228646	228646000	228649442	2.09	[{'connected_gene': 'LOC105373132', 'score': 550.77}, {'connected_gene': 'RNA5SP18', 'score': 550.77}, {'connected_gene': 'GC01M228712', 'score': 550.77}, {'connected_gene': 'RNA5S17', 'score': 550.77}, {'connected_gene': 'CICP26', 'score': 15.16}, {'connected_gene': 'HMGN2P19', 'score': 12.25}, {'connected_gene': 'C1orf35', 'score': 12.2}, {'connected_gene': 'LOC105373159', 'score': 11.88}, {'connected_gene': 'ENSG00000269890', 'score': 11.85}, {'connected_gene': 'NUP133', 'score': 11.06}, {'connected_gene': 'RHOU', 'score': 11.0}, {'connected_gene': 'HIST3H3', 'score': 10.82}, {'connected_gene': 'TAF5L', 'score': 9.94}, {'connected_gene': 'DUSP5P1', 'score': 5.57}, {'connected_gene': 'ENSG00000270110', 'score': 5.02}, {'connected_gene': 'RNF187', 'score': 4.36}, {'connected_gene': 'HIST3H2A', 'score': 1.44}, {'connected_gene': 'TRIM11', 'score': 1.41}]
chr1	GH01I230185	230185235	230187485	1.33	[{'connected_gene': 'HMGN2P19', 'score': 12.66}, {'connected_gene': 'NUP133', 'score': 12.15}, {'connected_gene': 'ENSG00000224407', 'score': 11.18}, {'connected_gene': 'TAF5L', 'score': 10.81}, {'connected_gene': 'ABCB10', 'score': 10.17}, {'connected_gene': 'GC01M230200', 'score': 0.22}, {'connected_gene': 'GC01P230113', 'score': 0.19}, {'connected_gene': 'GALNT2', 'score': 0.13}]