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
ENST00000469361	[[39617014, 39619585], [39620949, 39621043], [39623414, 39623498], [39627488, 39628754], [39639218, 39639736]]	None
ENST00000330149	[[39617015, 39619585], [39620949, 39621043], [39623414, 39623498], [39627488, 39627606], [39628686, 39628754], [39639218, 39639526]]	[[39619553, 39619585], [39620949, 39621043], [39623414, 39623498], [39627488, 39627606], [39628686, 39628754], [39639218, 39639299]]
ENST00000347691	[[39617015, 39619585], [39620949, 39621043], [39627488, 39627606], [39628686, 39628754], [39639218, 39639597]]	[[39619553, 39619585], [39620949, 39621043], [39627488, 39627606], [39628686, 39628754], [39639218, 39639299]]
ENST00000557764	[[39619193, 39619585], [39620949, 39621043], [39623414, 39623498], [39639218, 39639518]]	None
ENST00000555269	[[39619321, 39619585], [39620949, 39621043], [39623414, 39623498], [39627488, 39627606], [39628653, 39628754], [39639218, 39639557]]	[[39628682, 39628754], [39639218, 39639299]]
ENST00000554018	[[39621000, 39621043], [39627488, 39627606], [39628686, 39628754], [39639221, 39639533]]	[[39621000, 39621043], [39627488, 39627606], [39628686, 39628754], [39639221, 39639299]]
ENST00000556765	[[39621014, 39621043], [39627488, 39627606], [39628653, 39628754], [39639218, 39639634]]	[[39628682, 39628754], [39639218, 39639299]]
NM_001079537	[[39617014, 39619585], [39620949, 39621043], [39623414, 39623498], [39627488, 39627606], [39628686, 39628754], [39639218, 39639634]]	[[39619553, 39619585], [39620949, 39621043], [39623414, 39623498], [39627488, 39627606], [39628686, 39628754], [39639218, 39639299]]
NM_177452	[[39617014, 39619585], [39620949, 39621043], [39627488, 39627606], [39628686, 39628754], [39639218, 39639634]]	[[39619553, 39619585], [39620949, 39621043], [39627488, 39627606], [39628686, 39628754], [39639218, 39639299]]

Promoter

Chrom	Start	End	Description
chr14	39639419	39639458	CAGE_peak_4_at_TRAPPC6B_5end
chr14	39639459	39639478	CAGE_peak_3_at_TRAPPC6B_5end
chr14	39639480	39639515	CAGE_peak_2_at_TRAPPC6B_5end
chr14	39639523	39639617	CAGE_peak_1_at_TRAPPC6B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I039173	39173782	39177106	2.1	[{'connected_gene': 'PNN', 'score': 579.67}, {'connected_gene': 'ENSG00000259083', 'score': 571.63}, {'connected_gene': 'RPL7AP2', 'score': 22.09}, {'connected_gene': 'GEMIN2', 'score': 11.15}, {'connected_gene': 'SEC23A', 'score': 11.14}, {'connected_gene': 'FBXO33', 'score': 10.29}, {'connected_gene': 'CTAGE5', 'score': 5.79}, {'connected_gene': 'TRAPPC6B', 'score': 5.47}, {'connected_gene': 'GC14P039155', 'score': 0.34}]
chr14	GH14I039096	39096884	39098000	1	[{'connected_gene': 'PNN', 'score': 10.62}, {'connected_gene': 'FBXO33', 'score': 10.46}, {'connected_gene': 'TRAPPC6B', 'score': 4.89}, {'connected_gene': 'SEC23A-AS1', 'score': 0.44}, {'connected_gene': 'GC14M038906', 'score': 0.44}, {'connected_gene': 'ENSG00000259121', 'score': 0.44}, {'connected_gene': 'SEC23A', 'score': 0.39}]
chr14	GH14I039187	39187091	39188299	0.59	[{'connected_gene': 'CTAGE5', 'score': 17.16}, {'connected_gene': 'MIA2', 'score': 11.6}, {'connected_gene': 'FBXO33', 'score': 10.38}, {'connected_gene': 'TRAPPC6B', 'score': 5.16}, {'connected_gene': 'SEC23A', 'score': 4.84}, {'connected_gene': 'GC14P039181', 'score': 0.44}, {'connected_gene': 'GC14P039193', 'score': 0.44}, {'connected_gene': 'GC14P039155', 'score': 0.29}]
chr14	GH14I039050	39050108	39051127	0.59	[{'connected_gene': 'CTAGE5', 'score': 5.68}, {'connected_gene': 'TRAPPC6B', 'score': 4.88}, {'connected_gene': 'GC14P039030', 'score': 0.34}, {'connected_gene': 'ENSG00000259121', 'score': 0.26}, {'connected_gene': 'SEC23A', 'score': 0.22}, {'connected_gene': 'GC14M038906', 'score': 0.22}]
chr14	GH14I039203	39203284	39204841	0.75	[{'connected_gene': 'CTAGE5', 'score': 8.93}, {'connected_gene': 'ENSG00000259083', 'score': 5.58}, {'connected_gene': 'TRAPPC6B', 'score': 4.52}, {'connected_gene': 'LOC100313942', 'score': 0.77}, {'connected_gene': 'GC14P039211', 'score': 0.44}, {'connected_gene': 'GC14M039196', 'score': 0.18}]
chr14	GH14I039185	39185017	39186143	0.59	[{'connected_gene': 'MIA2', 'score': 11.6}, {'connected_gene': 'CTAGE5', 'score': 11.6}, {'connected_gene': 'FBXO33', 'score': 10.38}, {'connected_gene': 'TRAPPC6B', 'score': 5.29}, {'connected_gene': 'GC14P039181', 'score': 0.77}, {'connected_gene': 'GC14P039193', 'score': 0.44}, {'connected_gene': 'GC14P039155', 'score': 0.29}]
chr14	GH14I039023	39023343	39027184	0.96	[{'connected_gene': 'LINC00639', 'score': 7.49}, {'connected_gene': 'CTAGE5', 'score': 5.7}, {'connected_gene': 'SEC23A', 'score': 5.28}, {'connected_gene': 'TRAPPC6B', 'score': 4.7}, {'connected_gene': 'LOC100288846', 'score': 4.64}, {'connected_gene': 'GC14P039016', 'score': 0.44}, {'connected_gene': 'GC14P039030', 'score': 0.44}, {'connected_gene': 'GC14M038906', 'score': 0.18}]
chr14	GH14I039168	39168533	39171544	2.07	[{'connected_gene': 'TRAPPC6B', 'score': 555.73}, {'connected_gene': 'PNN', 'score': 19.68}, {'connected_gene': 'ENSG00000259083', 'score': 10.63}, {'connected_gene': 'FBXO33', 'score': 10.23}, {'connected_gene': 'SEC23A', 'score': 4.69}, {'connected_gene': 'GC14P039155', 'score': 0.39}, {'connected_gene': 'RPL7AP2', 'score': 0.39}]
chr14	GH14I039113	39113365	39115386	2.01	[{'connected_gene': 'LOC105370459', 'score': 550.77}, {'connected_gene': 'GEMIN2', 'score': 550.77}, {'connected_gene': 'PNN', 'score': 6.75}, {'connected_gene': 'CTAGE5', 'score': 5.68}, {'connected_gene': 'SEC23A', 'score': 5.66}, {'connected_gene': 'TRAPPC6B', 'score': 4.56}]
chr14	GH14I039145	39145077	39146030	0.95	[{'connected_gene': 'SEC23A', 'score': 16.86}, {'connected_gene': 'GEMIN2', 'score': 12.31}, {'connected_gene': 'CTAGE5', 'score': 5.24}, {'connected_gene': 'TRAPPC6B', 'score': 5.04}, {'connected_gene': 'GC14P039155', 'score': 0.44}, {'connected_gene': 'LOC105370459', 'score': 0.29}]
chr14	GH14I039107	39107537	39107806	0.75	[{'connected_gene': 'SEC23A', 'score': 555.66}, {'connected_gene': 'PPIAP4', 'score': 550.77}, {'connected_gene': 'GC14M038906', 'score': 550.77}, {'connected_gene': 'GC14P039109', 'score': 550.77}, {'connected_gene': 'TRAPPC6B', 'score': 5.06}]
chr14	GH14I039101	39101270	39105087	2.06	[{'connected_gene': 'SEC23A', 'score': 555.36}, {'connected_gene': 'SEC23A-AS1', 'score': 550.77}, {'connected_gene': 'PNN', 'score': 16.63}, {'connected_gene': 'RPL7AP2', 'score': 12.0}, {'connected_gene': 'ENSG00000259083', 'score': 11.61}, {'connected_gene': 'CTAGE5', 'score': 5.66}, {'connected_gene': 'TRAPPC6B', 'score': 4.9}, {'connected_gene': 'GC14M038906', 'score': 0.77}]
chr14	GH14I039194	39194869	39195210	0.23	[{'connected_gene': 'GC14P039194', 'score': 550.77}, {'connected_gene': 'GC14P039193', 'score': 550.77}, {'connected_gene': 'TRAPPC6B', 'score': 6.11}, {'connected_gene': 'CTAGE5', 'score': 5.83}, {'connected_gene': 'PNN', 'score': 1.95}, {'connected_gene': 'LOC100313942', 'score': 0.77}, {'connected_gene': 'GC14P039155', 'score': 0.28}]