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
ENST00000301149	[[50497601, 50497874], [50498356, 50498534], [50499330, 50499471], [50500070, 50500209], [50500587, 50500700], [50501349, 50501583], [50501806, 50501913], [50503205, 50505102]]	[[50497833, 50497874], [50498356, 50498534], [50499330, 50499471], [50500070, 50500209], [50500587, 50500700], [50501349, 50501583], [50501806, 50501913], [50503205, 50503302]]
ENST00000547964	[[50497764, 50497874], [50498197, 50498241], [50498356, 50498534], [50499330, 50499471], [50500070, 50500170]]	[[50497833, 50497874], [50498197, 50498241], [50498356, 50498424]]
ENST00000551939	[[50497790, 50497874], [50498356, 50498534], [50499330, 50499825]]	None
ENST00000547190	[[50497790, 50497874], [50498356, 50498534], [50499330, 50499471], [50500070, 50500209], [50500587, 50500700], [50501806, 50501891]]	None
ENST00000548814	[[50497790, 50497874], [50498356, 50498534], [50499399, 50499471], [50500070, 50500209], [50500587, 50500700], [50501349, 50501583], [50501806, 50501913], [50503205, 50503869]]	[[50497833, 50497874], [50498356, 50498534], [50499399, 50499471], [50500070, 50500209], [50500587, 50500700], [50501349, 50501583], [50501806, 50501913], [50503205, 50503302]]
ENST00000548152	[[50498129, 50498241], [50498356, 50498534], [50499330, 50499471], [50500587, 50500700], [50501255, 50501296]]	None
ENST00000550172	[[50498928, 50499471], [50500070, 50500209], [50500587, 50500699]]	None
NM_001257199	[[50497601, 50497874], [50498356, 50498534], [50499399, 50499471], [50500070, 50500209], [50500587, 50500700], [50501349, 50501583], [50501806, 50501913], [50503205, 50505103]]	[[50497833, 50497874], [50498356, 50498534], [50499399, 50499471], [50500070, 50500209], [50500587, 50500700], [50501349, 50501583], [50501806, 50501913], [50503205, 50503302]]
NM_005276	[[50497601, 50497874], [50498356, 50498534], [50499330, 50499471], [50500070, 50500209], [50500587, 50500700], [50501349, 50501583], [50501806, 50501913], [50503205, 50505103]]	[[50497833, 50497874], [50498356, 50498534], [50499330, 50499471], [50500070, 50500209], [50500587, 50500700], [50501349, 50501583], [50501806, 50501913], [50503205, 50503302]]

Promoter

Chrom	Start	End	Description
chr12	50497759	50497770	CAGE_peak_3_at_GPD1_5end
chr12	50497784	50497802	CAGE_peak_1_at_GPD1_5end
chr12	50497814	50497825	CAGE_peak_2_at_GPD1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I050106	50106755	50113401	2.3	[{'connected_gene': 'COX14', 'score': 555.97}, {'connected_gene': 'GC12M050105', 'score': 550.77}, {'connected_gene': 'CERS5', 'score': 28.6}, {'connected_gene': 'FAM186B', 'score': 17.49}, {'connected_gene': 'LMBR1L', 'score': 14.49}, {'connected_gene': 'ATF1', 'score': 14.02}, {'connected_gene': 'LIMA1', 'score': 11.01}, {'connected_gene': 'ENSG00000272368', 'score': 0.77}, {'connected_gene': 'GPD1', 'score': 0.44}]
chr12	GH12I050084	50084281	50086446	2.02	[{'connected_gene': 'SMARCD1', 'score': 567.1}, {'connected_gene': 'LMBR1L', 'score': 20.43}, {'connected_gene': 'LOC100422296', 'score': 19.57}, {'connected_gene': 'CERS5', 'score': 14.38}, {'connected_gene': 'BCDIN3D', 'score': 13.57}, {'connected_gene': 'ENSG00000257298', 'score': 13.23}, {'connected_gene': 'ENSG00000257964', 'score': 12.64}, {'connected_gene': 'DHH', 'score': 12.05}, {'connected_gene': 'PRPH', 'score': 11.97}, {'connected_gene': 'PRPF40B', 'score': 10.53}, {'connected_gene': 'LOC101927267', 'score': 9.78}, {'connected_gene': 'GPD1', 'score': 0.37}]
chr12	GH12I050086	50086498	50086647	0.38	[{'connected_gene': 'SMARCD1', 'score': 550.77}, {'connected_gene': 'GPD1', 'score': 0.37}]
chr12	GH12I050088	50086676	50086728	0.2	[{'connected_gene': 'SMARCD1', 'score': 550.77}, {'connected_gene': 'GPD1', 'score': 0.37}]
chr12	GH12I050103	50101638	50101847	0.89	[{'connected_gene': 'GPD1', 'score': 0.77}, {'connected_gene': 'SMARCD1', 'score': 0.37}]
chr12	GH12I050098	50098738	50100232	0.74	[{'connected_gene': 'GPD1', 'score': 0.77}, {'connected_gene': 'SMARCD1', 'score': 0.39}]
chr12	GH12I050101	50101862	50101867	0.89	[{'connected_gene': 'GPD1', 'score': 550.77}, {'connected_gene': 'SMARCD1', 'score': 0.37}]
chr12	GH12I050102	50102278	50106657	1.81	[{'connected_gene': 'GPD1', 'score': 550.77}, {'connected_gene': 'CERS5', 'score': 15.27}, {'connected_gene': 'LIMA1', 'score': 7.2}, {'connected_gene': 'COX14', 'score': 0.44}, {'connected_gene': 'GC12M050105', 'score': 0.44}]
chr12	GH12I050087	50087267	50089313	1.17	[{'connected_gene': 'CERS5', 'score': 18.27}, {'connected_gene': 'SMARCD1', 'score': 0.77}, {'connected_gene': 'GPD1', 'score': 0.37}]
chr12	GH12I050095	50095413	50097537	0.31	[{'connected_gene': 'CERS5', 'score': 20.69}, {'connected_gene': 'GPD1', 'score': 0.44}, {'connected_gene': 'SMARCD1', 'score': 0.39}]