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
ENST00000361052	[[206317458, 206317644], [206318310, 206318467], [206319100, 206319218], [206320200, 206320319], [206325222, 206325437], [206327473, 206327596], [206328718, 206328860], [206328961, 206329060], [206331020, 206332104]]	[[206317576, 206317644], [206318310, 206318467], [206319100, 206319218], [206320200, 206320319], [206325222, 206325437], [206327473, 206327596], [206328718, 206328860], [206328961, 206329060], [206331020, 206331185]]
ENST00000358184	[[206317458, 206317644], [206318310, 206318467], [206319100, 206319218], [206320200, 206320319], [206325237, 206325437], [206327473, 206327596], [206328718, 206328860], [206328961, 206329060], [206331020, 206332104]]	[[206317576, 206317644], [206318310, 206318467], [206319100, 206319218], [206320200, 206320319], [206325237, 206325437], [206327473, 206327596], [206328718, 206328860], [206328961, 206329060], [206331020, 206331185]]
ENST00000360218	[[206317472, 206317644], [206318310, 206318467], [206319100, 206319218], [206320200, 206320319], [206325237, 206325437], [206327473, 206327596], [206328961, 206329060], [206331020, 206332103]]	[[206317576, 206317644], [206318310, 206318467], [206319100, 206319218], [206320200, 206320319], [206325237, 206325437], [206327473, 206327596], [206328961, 206329060], [206331020, 206331228]]
ENST00000432969	[[206317605, 206317644], [206319100, 206319218], [206320200, 206320319], [206325237, 206325437], [206327473, 206327596], [206328961, 206329060], [206331020, 206331560]]	[[206319100, 206319218], [206320200, 206320319], [206325237, 206325437], [206327473, 206327596], [206328961, 206329060], [206331020, 206331228]]
ENST00000468617	[[206319993, 206320319], [206325237, 206325437], [206327473, 206327594]]	None
ENST00000486757	[[206327237, 206327596], [206328961, 206329037]]	None
NM_001317331	[[206317458, 206317644], [206319100, 206319218], [206320200, 206320319], [206325237, 206325437], [206327473, 206327596], [206328961, 206329060], [206331020, 206332104]]	[[206319100, 206319218], [206320200, 206320319], [206325237, 206325437], [206327473, 206327596], [206328961, 206329060], [206331020, 206331228]]
NM_148964	[[206317458, 206317644], [206318310, 206318467], [206319100, 206319218], [206320200, 206320319], [206325237, 206325437], [206327473, 206327596], [206328961, 206329060], [206331020, 206332104]]	[[206317576, 206317644], [206318310, 206318467], [206319100, 206319218], [206320200, 206320319], [206325237, 206325437], [206327473, 206327596], [206328961, 206329060], [206331020, 206331228]]
NM_001910	[[206317458, 206317644], [206318310, 206318467], [206319100, 206319218], [206320200, 206320319], [206325237, 206325437], [206327473, 206327596], [206328718, 206328860], [206328961, 206329060], [206331020, 206332104]]	[[206317576, 206317644], [206318310, 206318467], [206319100, 206319218], [206320200, 206320319], [206325237, 206325437], [206327473, 206327596], [206328718, 206328860], [206328961, 206329060], [206331020, 206331185]]

Promoter

Chrom	Start	End	Description
chr1	206317450	206317478	CAGE_peak_2_at_CTSE_5end
chr1	206317482	206317491	CAGE_peak_5_at_CTSE_5end
chr1	206317499	206317506	CAGE_peak_7_at_CTSE_5end
chr1	206317511	206317522	CAGE_peak_4_at_CTSE_5end
chr1	206317523	206317535	CAGE_peak_3_at_CTSE_5end
chr1	206317546	206317580	CAGE_peak_1_at_CTSE_5end
chr1	206317591	206317601	CAGE_peak_6_at_CTSE_5end
chr1	206320318	206320322	CAGE_peak_8_at_CTSE_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I206093	206093575	206094856	1.16	[{'connected_gene': 'RHEX', 'score': 550.22}, {'connected_gene': 'ENSG00000226780', 'score': 11.31}, {'connected_gene': 'AVPR1B', 'score': 11.31}, {'connected_gene': 'CTSE', 'score': 10.97}, {'connected_gene': 'ENSG00000252692', 'score': 0.39}]
chr1	GH01I206046	206046481	206054292	2.13	[{'connected_gene': 'RHEX', 'score': 553.91}, {'connected_gene': 'ELK4', 'score': 35.35}, {'connected_gene': 'EIF2D', 'score': 13.54}, {'connected_gene': 'ENSG00000252692', 'score': 11.91}, {'connected_gene': 'RPL7AP20', 'score': 11.76}, {'connected_gene': 'CTSE', 'score': 11.6}, {'connected_gene': 'ENSG00000226780', 'score': 10.69}, {'connected_gene': 'AVPR1B', 'score': 10.69}, {'connected_gene': 'SLC26A9', 'score': 10.08}, {'connected_gene': 'TMCC2', 'score': 9.89}, {'connected_gene': 'RBBP5', 'score': 9.77}, {'connected_gene': 'NUCKS1', 'score': 5.06}, {'connected_gene': 'PIR51502', 'score': 0.77}, {'connected_gene': 'GC01M206045', 'score': 0.77}]
chr1	GH01I206011	206011678	206013061	0.98	[{'connected_gene': 'RAB7B', 'score': 0.44}, {'connected_gene': 'CTSE', 'score': 0.39}]
chr1	GH01I206096	206096972	206099397	0.38	[{'connected_gene': 'CTSE', 'score': 11.67}, {'connected_gene': 'RAB29', 'score': 9.22}, {'connected_gene': 'AVPR1B', 'score': 0.37}, {'connected_gene': 'ENSG00000252692', 'score': 0.37}, {'connected_gene': 'RHEX', 'score': 0.21}]
chr1	GH01I206095	206095912	206096800	0.2	[{'connected_gene': 'CTSE', 'score': 11.67}, {'connected_gene': 'ENSG00000226780', 'score': 11.31}, {'connected_gene': 'AVPR1B', 'score': 11.31}, {'connected_gene': 'RAB29', 'score': 9.24}, {'connected_gene': 'ENSG00000252692', 'score': 0.37}, {'connected_gene': 'RHEX', 'score': 0.22}]
chr1	GH01I206113	206113028	206113750	0.85	[{'connected_gene': 'CTSE', 'score': 11.22}, {'connected_gene': 'AVPR1B', 'score': 0.77}, {'connected_gene': 'ENSG00000252692', 'score': 0.29}]
chr1	GH01I206013	206013518	206013667	0.2	[{'connected_gene': 'CTSE', 'score': 0.39}, {'connected_gene': 'RAB7B', 'score': 0.39}]
chr1	GH01I206020	206020390	206024503	1.1	[{'connected_gene': 'CTSE', 'score': 550.77}, {'connected_gene': 'PM20D1', 'score': 4.1}, {'connected_gene': 'RAB7B', 'score': 0.37}]
chr1	GH01I206075	206075862	206076111	0.31	[{'connected_gene': 'CTSE', 'score': 11.63}, {'connected_gene': 'LOC105372857', 'score': 0.77}, {'connected_gene': 'GC01P206081', 'score': 0.77}, {'connected_gene': 'RHEX', 'score': 0.28}]
chr1	GH01I206077	206076321	206078425	0.46	[{'connected_gene': 'CTSE', 'score': 11.63}, {'connected_gene': 'GC01P206081', 'score': 0.77}, {'connected_gene': 'LOC105372857', 'score': 0.44}, {'connected_gene': 'RHEX', 'score': 0.26}]
chr1	GH01I206076	206075402	206075651	0.79	[{'connected_gene': 'CTSE', 'score': 11.63}, {'connected_gene': 'LOC105372857', 'score': 0.77}, {'connected_gene': 'GC01P206081', 'score': 0.77}, {'connected_gene': 'RHEX', 'score': 0.28}]
chr1	GH01I205925	205925427	205926603	0.91	[{'connected_gene': 'PM20D1', 'score': 10.66}, {'connected_gene': 'ENSG00000226780', 'score': 10.4}, {'connected_gene': 'AVPR1B', 'score': 10.4}, {'connected_gene': 'MFSD4A', 'score': 10.32}, {'connected_gene': 'CTSE', 'score': 10.11}, {'connected_gene': 'RAB29', 'score': 9.99}, {'connected_gene': 'RNU6-418P', 'score': 9.0}, {'connected_gene': 'SLC26A9', 'score': 5.61}, {'connected_gene': 'LOC103021296', 'score': 0.44}, {'connected_gene': 'LOC284581', 'score': 0.21}]
chr1	GH01I206134	206134080	206134460	0.31	[{'connected_gene': 'LOC105372869', 'score': 550.77}, {'connected_gene': 'CTSE', 'score': 10.21}, {'connected_gene': 'SLC26A9', 'score': 10.2}, {'connected_gene': 'LOC105372873', 'score': 0.39}]
chr1	GH01I206090	206090448	206093406	0.31	[{'connected_gene': 'ENSG00000226780', 'score': 11.29}, {'connected_gene': 'AVPR1B', 'score': 11.29}, {'connected_gene': 'CTSE', 'score': 10.98}, {'connected_gene': 'ENSG00000252692', 'score': 0.39}, {'connected_gene': 'RHEX', 'score': 0.23}]
chr1	GH01I206030	206030758	206031007	1.1	[{'connected_gene': 'ENSG00000226780', 'score': 11.19}, {'connected_gene': 'AVPR1B', 'score': 11.19}, {'connected_gene': 'CTSE', 'score': 0.44}, {'connected_gene': 'RHEX', 'score': 0.44}]
chr1	GH01I205923	205923745	205924569	0.43	[{'connected_gene': 'ENSG00000226780', 'score': 10.24}, {'connected_gene': 'AVPR1B', 'score': 10.24}, {'connected_gene': 'PM20D1', 'score': 10.02}, {'connected_gene': 'RAB29', 'score': 10.0}, {'connected_gene': 'CTSE', 'score': 9.92}, {'connected_gene': 'MFSD4A', 'score': 9.13}, {'connected_gene': 'LOC103021296', 'score': 0.39}, {'connected_gene': 'SLC26A9', 'score': 0.37}, {'connected_gene': 'LOC284581', 'score': 0.21}]
chr1	GH01I206033	206033295	206033942	0.4	[{'connected_gene': 'ENSG00000252692', 'score': 11.81}, {'connected_gene': 'RHEX', 'score': 0.77}, {'connected_gene': 'CTSE', 'score': 0.44}]
chr1	GH01I206106	206106401	206106830	1.15	[{'connected_gene': 'ENSG00000252692', 'score': 12.39}, {'connected_gene': 'CTSE', 'score': 11.86}, {'connected_gene': 'NUCKS1', 'score': 9.97}, {'connected_gene': 'IKBKE', 'score': 9.47}, {'connected_gene': 'RAB29', 'score': 9.4}, {'connected_gene': 'AVPR1B', 'score': 0.39}]
chr1	GH01I206102	206102001	206102681	0.77	[{'connected_gene': 'ENSG00000252692', 'score': 12.82}, {'connected_gene': 'CTSE', 'score': 11.37}, {'connected_gene': 'AVPR1B', 'score': 0.37}, {'connected_gene': 'RHEX', 'score': 0.2}]