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
ENST00000555181	[[96829813, 96829905], [96846024, 96846125], [96848583, 96848842], [96851859, 96853625]]	[[96848584, 96848842], [96851859, 96852021]]
ENST00000555088	[[96829862, 96829905], [96846024, 96846629]]	None
ENST00000553699	[[96829862, 96829905], [96845274, 96845396], [96846024, 96846125], [96848583, 96848818]]	[[96848584, 96848818]]
ENST00000554182	[[96829862, 96829905], [96846024, 96846092], [96848583, 96848842], [96851859, 96852249]]	[[96848584, 96848842], [96851859, 96852021]]
ENST00000556095	[[96829893, 96831603], [96846024, 96846125], [96848583, 96848842], [96851859, 96853623]]	[[96848584, 96848842], [96851859, 96852021]]
ENST00000438650	[[96846021, 96846125], [96848583, 96848842], [96851859, 96853561]]	[[96848584, 96848842], [96851859, 96852021]]
ENST00000555757	[[96846038, 96846071], [96848583, 96848842], [96851859, 96851928]]	[[96848584, 96848842], [96851859, 96851928]]
NM_001271906	[[96829788, 96829905], [96848583, 96848842], [96851859, 96853627]]	[[96848584, 96848842], [96851859, 96852021]]
NM_001271905	[[96829788, 96829905], [96846024, 96846092], [96848583, 96848842], [96851859, 96853627]]	[[96848584, 96848842], [96851859, 96852021]]
NM_016472	[[96829788, 96829905], [96846024, 96846125], [96848583, 96848842], [96851859, 96853627]]	[[96848584, 96848842], [96851859, 96852021]]
NM_001271904	[[96831072, 96831603], [96846024, 96846125], [96848583, 96848842], [96851859, 96853627]]	[[96848584, 96848842], [96851859, 96852021]]

Promoter

Chrom	Start	End	Description
chr14	96829853	96829869	CAGE_peak_1_at_C14orf129_5end
chr14	96829886	96829901	CAGE_peak_2_at_C14orf129_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I096245	96245660	96247985	1.15	[{'connected_gene': 'BDKRB2', 'score': 17.94}, {'connected_gene': 'GSKIP', 'score': 5.99}, {'connected_gene': 'ENSG00000258793', 'score': 5.29}, {'connected_gene': 'PIR41586', 'score': 0.44}, {'connected_gene': 'ENSG00000259036', 'score': 0.39}, {'connected_gene': 'ENSG00000258691', 'score': 0.26}]
chr14	GH14I096331	96331184	96331333	0.2	[{'connected_gene': 'ATG2B', 'score': 11.22}, {'connected_gene': 'GSKIP', 'score': 0.29}, {'connected_gene': 'ENSG00000258729', 'score': 0.23}]
chr14	GH14I096282	96282544	96282693	0.2	[{'connected_gene': 'GSKIP', 'score': 7.23}, {'connected_gene': 'ENSG00000258729', 'score': 0.44}, {'connected_gene': 'ATG2B', 'score': 0.18}]
chr14	GH14I096361	96361362	96366013	1.98	[{'connected_gene': 'GSKIP', 'score': 605.33}, {'connected_gene': 'ATG2B', 'score': 550.77}]
chr14	GH14I096467	96467510	96469560	0.69	[{'connected_gene': 'GSKIP', 'score': 4.5}, {'connected_gene': 'RPL23AP10', 'score': 0.39}, {'connected_gene': 'PAPOLA', 'score': 0.29}, {'connected_gene': 'AK7', 'score': 0.18}]
chr14	GH14I096285	96285190	96286355	0.72	[{'connected_gene': 'GSKIP', 'score': 10.27}, {'connected_gene': 'PAPOLA', 'score': 9.45}, {'connected_gene': 'ENSG00000258729', 'score': 0.44}, {'connected_gene': 'ATG2B', 'score': 0.18}]
chr14	GH14I096307	96307776	96311710	0.59	[{'connected_gene': 'GSKIP', 'score': 67.03}, {'connected_gene': 'RNU2-33P', 'score': 10.45}, {'connected_gene': 'PAPOLA', 'score': 9.67}, {'connected_gene': 'ENSG00000258729', 'score': 0.29}, {'connected_gene': 'ATG2B', 'score': 0.23}]
chr14	GH14I096272	96272921	96273511	1.06	[{'connected_gene': 'GSKIP', 'score': 8.17}, {'connected_gene': 'GC14M096269', 'score': 0.77}, {'connected_gene': 'ENSG00000258729', 'score': 0.77}]
chr14	GH14I096424	96424000	96424673	1.24	[{'connected_gene': 'PEBP1P1', 'score': 557.27}, {'connected_gene': 'GC14M096423', 'score': 550.77}, {'connected_gene': 'RNU2-33P', 'score': 11.09}, {'connected_gene': 'AK7', 'score': 11.09}, {'connected_gene': 'GSKIP', 'score': 11.02}, {'connected_gene': 'GC14M096457', 'score': 0.29}]
chr14	GH14I096390	96390952	96393000	1.97	[{'connected_gene': 'AK7', 'score': 550.77}, {'connected_gene': 'GSKIP', 'score': 15.68}, {'connected_gene': 'RNU2-33P', 'score': 0.44}]
chr14	GH14I096350	96349352	96349628	0.31	[{'connected_gene': 'AK7', 'score': 11.82}, {'connected_gene': 'RNU2-33P', 'score': 10.59}, {'connected_gene': 'GSKIP', 'score': 10.55}, {'connected_gene': 'ATG2B', 'score': 0.39}, {'connected_gene': 'ENSG00000258729', 'score': 0.19}]
chr14	GH14I096349	96349784	96349973	0.31	[{'connected_gene': 'AK7', 'score': 11.82}, {'connected_gene': 'RNU2-33P', 'score': 10.61}, {'connected_gene': 'GSKIP', 'score': 0.39}, {'connected_gene': 'ATG2B', 'score': 0.39}, {'connected_gene': 'ENSG00000258729', 'score': 0.19}]
chr14	GH14I096460	96460575	96463476	0.92	[{'connected_gene': 'PAPOLA', 'score': 10.95}, {'connected_gene': 'ATG2B', 'score': 10.01}, {'connected_gene': 'GSKIP', 'score': 4.43}, {'connected_gene': 'RPL23AP10', 'score': 0.77}, {'connected_gene': 'AK7', 'score': 0.2}]
chr14	GH14I096445	96445823	96446500	0.65	[{'connected_gene': 'PAPOLA', 'score': 11.02}, {'connected_gene': 'RNU2-33P', 'score': 10.03}, {'connected_gene': 'GSKIP', 'score': 9.99}, {'connected_gene': 'GC14M096457', 'score': 0.39}, {'connected_gene': 'PEBP1P1', 'score': 0.34}, {'connected_gene': 'AK7', 'score': 0.23}]
chr14	GH14I096409	96409784	96409953	0.62	[{'connected_gene': 'RNU2-33P', 'score': 11.69}, {'connected_gene': 'GSKIP', 'score': 11.62}, {'connected_gene': 'PAPOLA', 'score': 10.64}, {'connected_gene': 'GC14M096423', 'score': 0.39}, {'connected_gene': 'AK7', 'score': 0.37}]
chr14	GH14I096264	96264888	96270166	1.14	[{'connected_gene': 'ENSG00000258793', 'score': 562.13}, {'connected_gene': 'GC14M096266', 'score': 550.77}, {'connected_gene': 'BDKRB2', 'score': 9.17}, {'connected_gene': 'PAPOLA', 'score': 9.06}, {'connected_gene': 'GSKIP', 'score': 8.23}, {'connected_gene': 'BDKRB1', 'score': 5.22}, {'connected_gene': 'GC14M096269', 'score': 0.77}]
chr14	GH14I096279	96279684	96279833	0.31	[{'connected_gene': 'ENSG00000258729', 'score': 0.77}, {'connected_gene': 'GSKIP', 'score': 0.18}, {'connected_gene': 'ATG2B', 'score': 0.18}]
chr14	GH14I096273	96273752	96276233	1.13	[{'connected_gene': 'ENSG00000258729', 'score': 550.77}, {'connected_gene': 'GSKIP', 'score': 45.61}, {'connected_gene': 'GC14M096269', 'score': 0.44}]
chr14	GH14I096270	96270390	96271802	0.51	[{'connected_gene': 'GC14M096269', 'score': 550.77}, {'connected_gene': 'GSKIP', 'score': 5.53}, {'connected_gene': 'ENSG00000258729', 'score': 0.44}]