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
ENST00000331018	[[43435521, 43435911], [43442415, 43442579], [43455389, 43455533], [43459818, 43459927], [43460195, 43460330], [43464415, 43464596], [43465641, 43465850], [43471479, 43471596], [43475907, 43475992], [43485282, 43485434]]	[[43435781, 43435911], [43442415, 43442579], [43455389, 43455533], [43459818, 43459927], [43460195, 43460330], [43464415, 43464596], [43465641, 43465850], [43471479, 43471592]]
ENST00000439248	[[43435649, 43435911], [43442415, 43442579], [43447806, 43447893], [43455389, 43455533], [43459818, 43459927], [43460195, 43460330], [43464415, 43464596], [43465609, 43465850], [43466176, 43466248], [43471479, 43471596], [43475907, 43475992], [43485282, 43485344]]	[[43466181, 43466248], [43471479, 43471592]]
ENST00000266254	[[43435649, 43435911], [43442415, 43442579], [43447806, 43447893], [43455389, 43455533], [43459818, 43459927], [43460195, 43460330], [43464415, 43464596], [43465641, 43465850], [43471479, 43471596], [43475907, 43475992], [43485282, 43485434]]	[[43435781, 43435911], [43442415, 43442579], [43447806, 43447893], [43455389, 43455533], [43459818, 43459927], [43460195, 43460330], [43464415, 43464596], [43465641, 43465850], [43471479, 43471592]]
ENST00000440761	[[43435674, 43435911], [43442415, 43442579], [43447806, 43447893], [43455389, 43455533], [43459818, 43459927], [43460195, 43460330], [43464415, 43464596], [43465641, 43465850], [43466176, 43466248], [43471479, 43471596], [43475907, 43475992], [43485282, 43485425]]	[[43466181, 43466248], [43471479, 43471592]]
ENST00000445824	[[43466181, 43466248], [43471479, 43471596], [43475907, 43475992], [43485282, 43485434]]	[[43466181, 43466248], [43471479, 43471592]]
NR_027779	[[43435521, 43435911], [43442415, 43442579], [43447806, 43447893], [43455389, 43455533], [43459818, 43459927], [43460195, 43460330], [43464415, 43464596], [43465609, 43465850], [43466176, 43466248], [43471479, 43471596], [43475907, 43475992], [43485282, 43485434]]	None
NM_012263	[[43435521, 43435911], [43442415, 43442579], [43447806, 43447893], [43455389, 43455533], [43459818, 43459927], [43460195, 43460330], [43464415, 43464596], [43465641, 43465850], [43471479, 43471596], [43475907, 43475992], [43485282, 43485434]]	[[43435781, 43435911], [43442415, 43442579], [43447806, 43447893], [43455389, 43455533], [43459818, 43459927], [43460195, 43460330], [43464415, 43464596], [43465641, 43465850], [43471479, 43471592]]

Promoter

Chrom	Start	End	Description
chr22	43485326	43485362	CAGE_peak_2_at_TTLL1_5end
chr22	43485381	43485424	CAGE_peak_1_at_TTLL1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr22	GH22I043313	43313875	43313984	0.89	[{'connected_gene': 'RRP7BP', 'score': 12.41}, {'connected_gene': 'TTLL1', 'score': 12.25}, {'connected_gene': 'SCUBE1', 'score': 11.58}, {'connected_gene': 'LOC101927447', 'score': 11.55}, {'connected_gene': 'LOC100506679', 'score': 10.18}, {'connected_gene': 'ENSG00000261251', 'score': 9.86}, {'connected_gene': 'GC22M043296', 'score': 0.44}, {'connected_gene': 'GC22M043280', 'score': 0.29}]
chr22	GH22I043033	43033345	43034310	0.95	[{'connected_gene': 'RRP7BP', 'score': 13.09}, {'connected_gene': 'TTLL1', 'score': 6.86}, {'connected_gene': 'LOC100506679', 'score': 0.77}, {'connected_gene': 'PACSIN2', 'score': 0.37}]
chr22	GH22I043415	43415210	43415605	0.22	[{'connected_gene': 'MPPED1', 'score': 13.7}, {'connected_gene': 'SCUBE1', 'score': 3.98}, {'connected_gene': 'TTLL1', 'score': 2.68}, {'connected_gene': 'SULT4A1', 'score': 1.18}, {'connected_gene': 'GC22P043447', 'score': 0.29}]
chr22	GH22I043142	43142400	43144229	2.23	[{'connected_gene': 'MCAT', 'score': 557.22}, {'connected_gene': 'LOC100506679', 'score': 11.91}, {'connected_gene': 'RRP7BP', 'score': 11.06}, {'connected_gene': 'TTLL1', 'score': 10.65}, {'connected_gene': 'BIK', 'score': 9.13}, {'connected_gene': 'TSPO', 'score': 7.85}, {'connected_gene': 'TTLL12', 'score': 4.83}]
chr22	GH22I042966	42965000	42965304	1.13	[{'connected_gene': 'ARFGAP3', 'score': 21.83}, {'connected_gene': 'RRP7BP', 'score': 12.43}, {'connected_gene': 'TTLL1', 'score': 12.3}, {'connected_gene': 'CYB5R3', 'score': 10.75}, {'connected_gene': 'ATP5MGL', 'score': 10.75}, {'connected_gene': 'NDUFA6-AS1', 'score': 10.45}, {'connected_gene': 'LOC100506679', 'score': 10.31}, {'connected_gene': 'ENSG00000261251', 'score': 9.84}, {'connected_gene': 'PIR35633', 'score': 0.34}, {'connected_gene': 'GC22M042914', 'score': 0.31}, {'connected_gene': 'PACSIN2', 'score': 0.23}]
chr22	GH22I042854	42854726	42858346	2.21	[{'connected_gene': 'ARFGAP3', 'score': 569.96}, {'connected_gene': 'LOC100506679', 'score': 22.66}, {'connected_gene': 'TTLL1', 'score': 14.15}, {'connected_gene': 'PACSIN2', 'score': 12.8}, {'connected_gene': 'RRP7BP', 'score': 11.1}, {'connected_gene': 'MCAT', 'score': 4.98}, {'connected_gene': 'LOC692246', 'score': 0.77}]
chr22	GH22I042950	42950366	42952315	0.49	[{'connected_gene': 'ARFGAP3', 'score': 26.91}, {'connected_gene': 'LOC100506679', 'score': 22.47}, {'connected_gene': 'PACSIN2', 'score': 11.98}, {'connected_gene': 'CYB5R3', 'score': 11.29}, {'connected_gene': 'TTLL1', 'score': 10.29}, {'connected_gene': 'GC22M042914', 'score': 0.39}, {'connected_gene': 'PIR35633', 'score': 0.29}]
chr22	GH22I042488	42488403	42489471	0.38	[{'connected_gene': 'TTLL1', 'score': 14.11}, {'connected_gene': 'SNU13', 'score': 11.02}, {'connected_gene': 'LOC100506679', 'score': 9.9}, {'connected_gene': 'CYB5R3', 'score': 7.82}, {'connected_gene': 'RRP7A', 'score': 6.83}, {'connected_gene': 'SERHL', 'score': 0.39}, {'connected_gene': 'LOC101927344', 'score': 0.23}]
chr22	GH22I043088	43088600	43090679	2.02	[{'connected_gene': 'TTLL1', 'score': 556.48}, {'connected_gene': 'GC22P043090', 'score': 550.77}, {'connected_gene': 'RN7SKP80', 'score': 14.54}, {'connected_gene': 'POLDIP3', 'score': 14.27}, {'connected_gene': 'RPL5P34', 'score': 10.71}]
chr22	GH22I043019	43019635	43019784	0.66	[{'connected_gene': 'TTLL1', 'score': 22.7}, {'connected_gene': 'LOC100506679', 'score': 19.09}, {'connected_gene': 'PACSIN2', 'score': 0.77}]
chr22	GH22I043066	43066853	43068204	1.07	[{'connected_gene': 'TTLL1', 'score': 13.04}, {'connected_gene': 'RPS25P10', 'score': 13.04}, {'connected_gene': 'BIK', 'score': 11.5}, {'connected_gene': 'A4GALT', 'score': 11.05}, {'connected_gene': 'MCAT', 'score': 10.93}, {'connected_gene': 'PIR49217', 'score': 0.37}, {'connected_gene': 'GC22P043084', 'score': 0.37}, {'connected_gene': 'GC22P043086', 'score': 0.37}, {'connected_gene': 'GC22P043085', 'score': 0.37}, {'connected_gene': 'LOC100506679', 'score': 0.31}]
chr22	GH22I043085	43085499	43086973	0.72	[{'connected_gene': 'TTLL1', 'score': 5.68}, {'connected_gene': 'GC22P043084', 'score': 0.77}, {'connected_gene': 'GC22P043086', 'score': 0.77}, {'connected_gene': 'GC22P043085', 'score': 0.77}, {'connected_gene': 'PIR49217', 'score': 0.77}]
chr22	GH22I043078	43078595	43078764	0.77	[{'connected_gene': 'CYB5R3', 'score': 4.89}, {'connected_gene': 'GC22P043084', 'score': 0.77}, {'connected_gene': 'GC22P043086', 'score': 0.77}, {'connected_gene': 'GC22P043085', 'score': 0.77}, {'connected_gene': 'PIR49217', 'score': 0.77}, {'connected_gene': 'TTLL1', 'score': 0.39}, {'connected_gene': 'LOC100506679', 'score': 0.26}]
chr22	GH22I043035	43035795	43037031	0.89	[{'connected_gene': 'PACSIN2', 'score': 9.09}, {'connected_gene': 'TTLL1', 'score': 7.68}, {'connected_gene': 'ARFGAP3', 'score': 7.3}, {'connected_gene': 'LOC100506679', 'score': 0.77}]
chr22	GH22I043240	43240715	43241470	1.26	[{'connected_gene': 'LOC101927447', 'score': 12.03}, {'connected_gene': 'SCUBE1', 'score': 11.88}, {'connected_gene': 'TTLL12', 'score': 7.21}, {'connected_gene': 'TTLL1', 'score': 4.59}, {'connected_gene': 'ENSG00000234892', 'score': 0.44}, {'connected_gene': 'GC22P043247', 'score': 0.44}]
chr22	GH22I043039	43039667	43040350	0.63	[{'connected_gene': 'LOC100506679', 'score': 550.77}, {'connected_gene': 'ARFGAP3', 'score': 10.43}, {'connected_gene': 'PACSIN2', 'score': 8.57}, {'connected_gene': 'TTLL1', 'score': 8.54}, {'connected_gene': 'PIR49217', 'score': 0.26}, {'connected_gene': 'GC22P043084', 'score': 0.26}, {'connected_gene': 'GC22P043086', 'score': 0.26}, {'connected_gene': 'GC22P043085', 'score': 0.26}]
chr22	GH22I043053	43053275	43053424	0.43	[{'connected_gene': 'LOC100506679', 'score': 0.39}, {'connected_gene': 'GC22P043084', 'score': 0.29}, {'connected_gene': 'GC22P043086', 'score': 0.29}, {'connected_gene': 'GC22P043085', 'score': 0.29}, {'connected_gene': 'PIR49217', 'score': 0.29}, {'connected_gene': 'TTLL1', 'score': 0.28}]
chr22	GH22I043060	43060355	43060484	0.57	[{'connected_gene': 'LOC100506679', 'score': 12.62}, {'connected_gene': 'PACSIN2', 'score': 12.54}, {'connected_gene': 'ARFGAP3', 'score': 10.66}, {'connected_gene': 'PIR49217', 'score': 0.34}, {'connected_gene': 'GC22P043084', 'score': 0.34}, {'connected_gene': 'GC22P043086', 'score': 0.34}, {'connected_gene': 'GC22P043085', 'score': 0.34}, {'connected_gene': 'TTLL1', 'score': 0.31}]
chr22	GH22I043099	43099855	43102478	0.85	[{'connected_gene': 'GC22M043099', 'score': 550.77}, {'connected_gene': 'TTLL1', 'score': 17.91}, {'connected_gene': 'LOC100506679', 'score': 13.06}, {'connected_gene': 'TSPO', 'score': 11.88}, {'connected_gene': 'MCAT', 'score': 11.7}, {'connected_gene': 'CYB5R3', 'score': 10.74}, {'connected_gene': 'ARFGAP3', 'score': 10.34}, {'connected_gene': 'BIK', 'score': 8.15}]
chr22	GH22I043080	43080491	43081364	0.52	[{'connected_gene': 'GC22P043084', 'score': 0.77}, {'connected_gene': 'GC22P043086', 'score': 0.77}, {'connected_gene': 'GC22P043085', 'score': 0.77}, {'connected_gene': 'PIR49217', 'score': 0.77}, {'connected_gene': 'TTLL1', 'score': 0.44}, {'connected_gene': 'LOC100506679', 'score': 0.26}]
chr22	GH22I044020	44020622	44022799	1.45	[{'connected_gene': 'ENSG00000261251', 'score': 37.63}, {'connected_gene': 'LOC100506679', 'score': 11.79}, {'connected_gene': 'SAMM50', 'score': 11.75}, {'connected_gene': 'RPL35AP36', 'score': 11.13}, {'connected_gene': 'RTL6', 'score': 11.1}, {'connected_gene': 'SHISAL1', 'score': 10.76}, {'connected_gene': 'PHF21B', 'score': 10.54}, {'connected_gene': 'TTLL1', 'score': 10.44}, {'connected_gene': 'PARVB', 'score': 8.81}, {'connected_gene': 'GC22M044040', 'score': 0.37}]
chr22	GH22I043051	43051115	43051264	0.59	[{'connected_gene': 'ENSG00000227370', 'score': 4.66}, {'connected_gene': 'LOC100506679', 'score': 0.39}, {'connected_gene': 'GC22P043084', 'score': 0.29}, {'connected_gene': 'GC22P043086', 'score': 0.29}, {'connected_gene': 'GC22P043085', 'score': 0.29}, {'connected_gene': 'PIR49217', 'score': 0.29}, {'connected_gene': 'TTLL1', 'score': 0.28}]