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
ENST00000548052	[[109252707, 109252811], [109270445, 109270689], [109273338, 109274000], [109277411, 109277547]]	None
ENST00000551281	[[109252707, 109252811], [109278773, 109278976], [109281225, 109281340], [109288038, 109288143], [109290781, 109290864], [109292454, 109292572], [109293152, 109293251], [109294179, 109294697]]	[[109278782, 109278976], [109281225, 109281340], [109288038, 109288143], [109290781, 109290864], [109292454, 109292572], [109293152, 109293251], [109294179, 109294311]]
ENST00000228476	[[109273805, 109274000], [109278773, 109278976], [109281225, 109281340], [109283244, 109283321], [109283983, 109284049], [109286757, 109286812], [109288038, 109288143], [109290781, 109290864], [109292454, 109292572], [109293152, 109293251], [109294179, 109294819]]	[[109278782, 109278976], [109281225, 109281340], [109283244, 109283321], [109283983, 109284049], [109286757, 109286812], [109288038, 109288143], [109290781, 109290864], [109292454, 109292572], [109293152, 109293251], [109294179, 109294311]]
ENST00000547122	[[109273866, 109274000], [109278773, 109278976], [109283244, 109283321], [109283983, 109284049], [109286757, 109286812], [109288038, 109288143], [109290781, 109290864], [109292454, 109292572], [109293152, 109293251], [109294179, 109294815]]	[[109278782, 109278976], [109283244, 109283287]]
ENST00000547768	[[109273884, 109274000], [109283244, 109283321], [109283983, 109284049], [109286757, 109286812], [109288038, 109288143], [109290781, 109290864], [109292454, 109292572], [109293152, 109293208]]	[[109283304, 109283321], [109283983, 109284049], [109286757, 109286812], [109288038, 109288143], [109290781, 109290864], [109292454, 109292572], [109293152, 109293208]]
ENST00000549215	[[109273915, 109274000], [109278773, 109278976], [109281225, 109281340], [109283983, 109284049], [109286757, 109286812], [109288038, 109288143], [109290781, 109290864], [109292454, 109292572], [109293152, 109294707]]	[[109278782, 109278976], [109281225, 109281340], [109283983, 109284046]]
ENST00000547166	[[109274126, 109274167], [109278773, 109278976], [109281225, 109281340], [109283244, 109283321], [109283983, 109284049], [109286757, 109286812], [109288038, 109288121]]	[[109278782, 109278976], [109281225, 109281340], [109283244, 109283321], [109283983, 109284049], [109286757, 109286812], [109288038, 109288121]]
ENST00000546552	[[109292247, 109292572], [109293152, 109293251], [109294179, 109294269]]	None
NM_001917	[[109273856, 109274000], [109278773, 109278976], [109281225, 109281340], [109283244, 109283321], [109283983, 109284049], [109286757, 109286812], [109288038, 109288143], [109290781, 109290864], [109292454, 109292572], [109293152, 109293251], [109294179, 109294710]]	[[109278782, 109278976], [109281225, 109281340], [109283244, 109283321], [109283983, 109284049], [109286757, 109286812], [109288038, 109288143], [109290781, 109290864], [109292454, 109292572], [109293152, 109293251], [109294179, 109294311]]

Promoter

Chrom	Start	End	Description
chr12	109273861	109273889	CAGE_peak_1_at_DAO_5end
chr12	109273910	109273921	CAGE_peak_2_at_DAO_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I108849	108849602	108859156	2.82	[{'connected_gene': 'SSH1', 'score': 556.94}, {'connected_gene': 'SART3', 'score': 14.83}, {'connected_gene': 'ALKBH2', 'score': 10.36}, {'connected_gene': 'UBE3B', 'score': 10.34}, {'connected_gene': 'CORO1C', 'score': 7.51}, {'connected_gene': 'ENSG00000257221', 'score': 5.74}, {'connected_gene': 'SELPLG', 'score': 2.23}, {'connected_gene': 'DAO', 'score': 0.77}, {'connected_gene': 'MIR619', 'score': 0.37}]
chr12	GH12I109109	109109376	109117842	2.21	[{'connected_gene': 'ACACB', 'score': 16.36}, {'connected_gene': 'MYO1H', 'score': 10.03}, {'connected_gene': 'ALKBH2', 'score': 8.32}, {'connected_gene': 'UNG', 'score': 6.91}, {'connected_gene': 'DAO', 'score': 1.44}, {'connected_gene': 'GC12M109089', 'score': 0.77}, {'connected_gene': 'ENSG00000256139', 'score': 0.77}, {'connected_gene': 'LOC105369974', 'score': 0.37}, {'connected_gene': 'GC12P109058', 'score': 0.22}, {'connected_gene': 'GC12P109057', 'score': 0.22}]
chr12	GH12I108861	108861643	108862861	1.05	[{'connected_gene': 'CORO1C', 'score': 5.73}, {'connected_gene': 'DAO', 'score': 0.77}, {'connected_gene': 'GC12M108860', 'score': 0.77}, {'connected_gene': 'PIR60393', 'score': 0.77}, {'connected_gene': 'GC12M108869', 'score': 0.44}, {'connected_gene': 'PIR41002', 'score': 0.44}]
chr12	GH12I108860	108860401	108861009	0.97	[{'connected_gene': 'DAO', 'score': 550.77}, {'connected_gene': 'GC12M108860', 'score': 550.77}, {'connected_gene': 'PIR60393', 'score': 550.77}, {'connected_gene': 'CORO1C', 'score': 5.74}, {'connected_gene': 'GC12M108869', 'score': 0.44}, {'connected_gene': 'PIR41002', 'score': 0.44}]
chr12	GH12I108880	108880045	108880104	0.96	[{'connected_gene': 'DAO', 'score': 550.34}, {'connected_gene': 'GC12M108869', 'score': 0.39}, {'connected_gene': 'PIR41002', 'score': 0.39}, {'connected_gene': 'GC12M108908', 'score': 0.31}]
chr12	GH12I108906	108906597	108909146	1.11	[{'connected_gene': 'ALKBH2', 'score': 13.85}, {'connected_gene': 'SART3', 'score': 12.29}, {'connected_gene': 'USP30', 'score': 12.04}, {'connected_gene': 'DAO', 'score': 4.0}, {'connected_gene': 'SVOP', 'score': 3.13}, {'connected_gene': 'GC12M108908', 'score': 0.77}, {'connected_gene': 'GC12M108869', 'score': 0.28}, {'connected_gene': 'PIR41002', 'score': 0.28}]
chr12	GH12I108117	108117309	108117799	0.9	[{'connected_gene': 'PWP1', 'score': 12.9}, {'connected_gene': 'DAO', 'score': 4.59}, {'connected_gene': 'WSCD2', 'score': 0.39}, {'connected_gene': 'GC12P108090', 'score': 0.31}]
chr12	GH12I108885	108884346	108884494	0.56	[{'connected_gene': 'GC12M108869', 'score': 0.37}, {'connected_gene': 'PIR41002', 'score': 0.37}, {'connected_gene': 'GC12M108908', 'score': 0.31}, {'connected_gene': 'DAO', 'score': 0.31}]
chr12	GH12I108884	108884545	108884714	0.59	[{'connected_gene': 'GC12M108869', 'score': 0.37}, {'connected_gene': 'PIR41002', 'score': 0.37}, {'connected_gene': 'GC12M108908', 'score': 0.31}, {'connected_gene': 'DAO', 'score': 0.31}]