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
ENST00000505931	[[41904289, 41904380], [41907837, 41907944], [41908410, 41908496], [41909847, 41909994], [41911149, 41911281]]	None
ENST00000381647	[[41904450, 41904569], [41907837, 41907944], [41909847, 41909994], [41911149, 41911281], [41912170, 41912285], [41917117, 41921738]]	[[41904469, 41904569], [41907837, 41907944], [41909847, 41909994], [41911149, 41911281], [41912170, 41912285], [41917117, 41917401]]
ENST00000509976	[[41904472, 41904569], [41907837, 41907944], [41909847, 41909994], [41911149, 41911435]]	None
NM_175921	[[41904445, 41904569], [41907837, 41907944], [41909847, 41909994], [41911149, 41911281], [41912170, 41912285], [41917117, 41921738]]	[[41904469, 41904569], [41907837, 41907944], [41909847, 41909994], [41911149, 41911281], [41912170, 41912285], [41917117, 41917401]]

Promoter

Chrom	Start	End	Description
chr5	41904412	41904426	CAGE_peak_3_at_C5orf51_5end
chr5	41904431	41904469	CAGE_peak_1_at_C5orf51_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I041212	41212250	41214899	1.18	[{'connected_gene': 'C6', 'score': 554.51}, {'connected_gene': 'C5orf51', 'score': 4.68}, {'connected_gene': 'GC05P041223', 'score': 0.39}, {'connected_gene': 'LOC105374739', 'score': 0.11}]
chr5	GH05I041908	41908301	41909229	0.31	[{'connected_gene': 'OXCT1', 'score': 12.38}, {'connected_gene': 'C5orf51', 'score': 0.77}, {'connected_gene': 'PIR36450', 'score': 0.39}, {'connected_gene': 'GC05P041926', 'score': 0.39}]
chr5	GH05I041869	41869015	41871603	1.99	[{'connected_gene': 'OXCT1', 'score': 556.04}, {'connected_gene': 'LOC102723752', 'score': 550.77}, {'connected_gene': 'OXCT1-AS1', 'score': 550.77}, {'connected_gene': 'FBXO4', 'score': 20.72}, {'connected_gene': 'C5orf51', 'score': 11.54}]
chr5	GH05I041871	41871697	41872048	0.89	[{'connected_gene': 'OXCT1', 'score': 550.77}, {'connected_gene': 'OXCT1-AS1', 'score': 550.77}, {'connected_gene': 'C5orf51', 'score': 11.54}, {'connected_gene': 'FBXO4', 'score': 10.79}, {'connected_gene': 'LOC102723752', 'score': 0.77}, {'connected_gene': 'RPS2P22', 'score': 0.34}]
chr5	GH05I041903	41903218	41905747	2.13	[{'connected_gene': 'C5orf51', 'score': 560.51}, {'connected_gene': 'FBXO4', 'score': 56.18}, {'connected_gene': 'SERBP1P6', 'score': 21.48}, {'connected_gene': 'OXCT1-AS1', 'score': 18.16}, {'connected_gene': 'CCDC152', 'score': 4.1}, {'connected_gene': 'PIR36450', 'score': 0.39}, {'connected_gene': 'GC05P041926', 'score': 0.39}]
chr5	GH05I042422	42422840	42425409	2.14	[{'connected_gene': 'GHR', 'score': 557.39}, {'connected_gene': 'ZNF131', 'score': 11.07}, {'connected_gene': 'OXCT1-AS1', 'score': 9.82}, {'connected_gene': 'C5orf51', 'score': 9.77}, {'connected_gene': 'ENSG00000250860', 'score': 0.26}]
chr5	GH05I041856	41856759	41856928	0.9	[{'connected_gene': 'FBXO4', 'score': 10.99}, {'connected_gene': 'C5orf51', 'score': 10.69}, {'connected_gene': 'OXCT1', 'score': 0.39}, {'connected_gene': 'LOC102723752', 'score': 0.39}, {'connected_gene': 'GC05M041733', 'score': 0.13}]
chr5	GH05I041111	41111818	41114160	0.2	[{'connected_gene': 'MROH2B', 'score': 10.68}, {'connected_gene': 'ENSG00000212567', 'score': 4.72}, {'connected_gene': 'C5orf51', 'score': 3.98}, {'connected_gene': 'LOC105374739', 'score': 0.26}, {'connected_gene': 'GC05P041223', 'score': 0.14}]
chr5	GH05I041921	41921021	41921958	0.57	[{'connected_gene': 'LOC100419715', 'score': 550.77}, {'connected_gene': 'PIR60775', 'score': 550.77}, {'connected_gene': 'GC05P041927', 'score': 550.77}, {'connected_gene': 'OXCT1', 'score': 18.13}, {'connected_gene': 'OXCT1-AS1', 'score': 10.75}, {'connected_gene': 'FBXO4', 'score': 0.77}, {'connected_gene': 'C5orf51', 'score': 0.37}]