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
ENST00000510994	[[134196547, 134197557], [134201647, 134201773], [134204161, 134204865]]	[[134197431, 134197557], [134201647, 134201746]]
ENST00000354910	[[134196549, 134197557], [134201647, 134201773], [134204793, 134204868]]	[[134197431, 134197557], [134201647, 134201746]]
ENST00000514612	[[134196552, 134197557], [134201647, 134201773], [134204542, 134204831]]	[[134197431, 134197557], [134201647, 134201746]]
ENST00000511751	[[134196917, 134197557], [134201647, 134201773], [134205428, 134205558]]	[[134197431, 134197557], [134201647, 134201746]]
ENST00000508755	[[134197319, 134197557], [134201647, 134202095]]	None
ENST00000503439	[[134201583, 134201773], [134204161, 134204545]]	None
NM_001242375	[[134196545, 134197557], [134201647, 134201773], [134204542, 134204831]]	[[134197431, 134197557], [134201647, 134201746]]
NM_015391	[[134196545, 134197557], [134201647, 134201773], [134204793, 134204863]]	[[134197431, 134197557], [134201647, 134201746]]
NM_001242374	[[134196545, 134197557], [134201647, 134201773], [134204161, 134204865]]	[[134197431, 134197557], [134201647, 134201746]]

Promoter

Chrom	Start	End	Description
chr3	134204266	134204360	CAGE_peak_3_at_ANAPC13_5end
chr3	134204454	134204469	CAGE_peak_4_at_ANAPC13_5end
chr3	134204539	134204590	CAGE_peak_2_at_ANAPC13_5end
chr3	134204815	134204839	CAGE_peak_1_at_ANAPC13_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I134241	134241648	134243433	0.95	[{'connected_gene': 'CEP63', 'score': 10.17}, {'connected_gene': 'ANAPC13', 'score': 10.17}, {'connected_gene': 'RYK', 'score': 0.44}, {'connected_gene': 'GC03P134171', 'score': 0.19}]
chr3	GH03I134299	134299401	134299801	0.52	[{'connected_gene': 'AMOTL2', 'score': 11.23}, {'connected_gene': 'CEP63', 'score': 11.12}, {'connected_gene': 'ANAPC13', 'score': 11.12}, {'connected_gene': 'RYK', 'score': 10.6}, {'connected_gene': 'ENSG00000260633', 'score': 4.85}, {'connected_gene': 'LINC02004', 'score': 0.39}]
chr3	GH03I134322	134322711	134337789	1.63	[{'connected_gene': 'AMOTL2', 'score': 17.77}, {'connected_gene': 'ENSG00000260633', 'score': 12.83}, {'connected_gene': 'ANAPC13', 'score': 5.0}, {'connected_gene': 'LOC105374118', 'score': 0.77}]
chr3	GH03I134340	134340801	134341200	0.58	[{'connected_gene': 'AMOTL2', 'score': 11.86}, {'connected_gene': 'ANAPC13', 'score': 4.48}, {'connected_gene': 'ENSG00000260633', 'score': 0.44}, {'connected_gene': 'LOC105374118', 'score': 0.39}]
chr3	GH03I134393	134393943	134397445	0.31	[{'connected_gene': 'AMOTL2', 'score': 12.06}, {'connected_gene': 'HMGN1P9', 'score': 7.64}, {'connected_gene': 'ANAPC13', 'score': 7.3}, {'connected_gene': 'CEP63', 'score': 6.79}, {'connected_gene': 'ENSG00000260633', 'score': 6.42}, {'connected_gene': 'HMGB3P13', 'score': 0.26}]
chr3	GH03I134650	134650266	134652358	1.72	[{'connected_gene': 'KY', 'score': 550.77}, {'connected_gene': 'ANAPC13', 'score': 23.9}, {'connected_gene': 'GC03M134600', 'score': 0.25}, {'connected_gene': 'EPHB1', 'score': 0.23}]
chr3	GH03I134590	134590921	134591319	0.24	[{'connected_gene': 'ANAPC13', 'score': 65.81}, {'connected_gene': 'CEP63', 'score': 25.98}, {'connected_gene': 'KY', 'score': 10.7}, {'connected_gene': 'EPHB1', 'score': 0.44}, {'connected_gene': 'PIR32535', 'score': 0.31}, {'connected_gene': 'GC03P134564', 'score': 0.31}]
chr3	GH03I134644	134644226	134646340	0.43	[{'connected_gene': 'ANAPC13', 'score': 28.59}, {'connected_gene': 'CEP63', 'score': 12.89}, {'connected_gene': 'KY', 'score': 0.44}, {'connected_gene': 'GC03M134600', 'score': 0.26}, {'connected_gene': 'EPHB1', 'score': 0.25}]
chr3	GH03I134482	134482220	134488247	2.49	[{'connected_gene': 'ANAPC13', 'score': 624.43}, {'connected_gene': 'CEP63', 'score': 583.07}, {'connected_gene': 'TOPBP1', 'score': 20.59}, {'connected_gene': 'RYK', 'score': 12.27}, {'connected_gene': 'MIR4788', 'score': 0.25}]
chr3	GH03I134476	134476059	134478993	0.63	[{'connected_gene': 'ANAPC13', 'score': 73.0}, {'connected_gene': 'CEP63', 'score': 0.44}, {'connected_gene': 'MIR4788', 'score': 0.28}]
chr3	GH03I134543	134543959	134545183	0.57	[{'connected_gene': 'ANAPC13', 'score': 58.07}, {'connected_gene': 'CEP63', 'score': 2.37}, {'connected_gene': 'GC03M134552', 'score': 0.44}, {'connected_gene': 'LOC100421154', 'score': 0.29}]
chr3	GH03I134492	134492401	134492800	0.76	[{'connected_gene': 'ANAPC13', 'score': 70.26}, {'connected_gene': 'CEP63', 'score': 0.44}, {'connected_gene': 'LOC100421154', 'score': 0.37}]
chr3	GH03I134471	134471233	134474648	1.09	[{'connected_gene': 'ANAPC13', 'score': 67.08}, {'connected_gene': 'RYK', 'score': 10.25}, {'connected_gene': 'CEP63', 'score': 0.39}, {'connected_gene': 'MIR4788', 'score': 0.28}]
chr3	GH03I134496	134496167	134496990	1.13	[{'connected_gene': 'ANAPC13', 'score': 65.12}, {'connected_gene': 'RYK', 'score': 13.02}, {'connected_gene': 'SLCO2A1', 'score': 4.76}, {'connected_gene': 'LOC100421154', 'score': 0.39}, {'connected_gene': 'CEP63', 'score': 0.39}]
chr3	GH03I134460	134460112	134466940	1.29	[{'connected_gene': 'ANAPC13', 'score': 68.69}, {'connected_gene': 'AMOTL2', 'score': 1.5}, {'connected_gene': 'CEP63', 'score': 0.34}, {'connected_gene': 'MIR4788', 'score': 0.31}]
chr3	GH03I134567	134567465	134567759	0.41	[{'connected_gene': 'ANAPC13', 'score': 70.04}, {'connected_gene': 'EPHB1', 'score': 11.48}, {'connected_gene': 'CEP63', 'score': 4.38}, {'connected_gene': 'PIR32535', 'score': 0.77}, {'connected_gene': 'GC03P134564', 'score': 0.77}]
chr3	GH03I134662	134662753	134665574	0.63	[{'connected_gene': 'ANAPC13', 'score': 16.34}, {'connected_gene': 'EPHB1', 'score': 10.81}, {'connected_gene': 'KY', 'score': 0.39}, {'connected_gene': 'RNU6-1174P', 'score': 0.13}]
chr3	GH03I134605	134605401	134607600	0.54	[{'connected_gene': 'ANAPC13', 'score': 54.22}, {'connected_gene': 'GC03M134600', 'score': 0.77}, {'connected_gene': 'EPHB1', 'score': 0.44}, {'connected_gene': 'KY', 'score': 0.25}]
chr3	GH03I134542	134542601	134543600	0.43	[{'connected_gene': 'ANAPC13', 'score': 71.41}, {'connected_gene': 'GC03M134552', 'score': 0.44}, {'connected_gene': 'LOC100421154', 'score': 0.29}, {'connected_gene': 'CEP63', 'score': 0.22}]
chr3	GH03I134517	134517001	134517400	0.31	[{'connected_gene': 'ANAPC13', 'score': 70.31}, {'connected_gene': 'LOC100421154', 'score': 0.44}, {'connected_gene': 'GC03M134552', 'score': 0.29}, {'connected_gene': 'CEP63', 'score': 0.29}]
chr3	GH03I134426	134426041	134429139	1.26	[{'connected_gene': 'ANAPC13', 'score': 18.88}, {'connected_gene': 'HMGB3P13', 'score': 0.44}, {'connected_gene': 'HMGN1P9', 'score': 0.26}]
chr3	GH03I134598	134598757	134598981	0.46	[{'connected_gene': 'EPHB1', 'score': 550.77}, {'connected_gene': 'CEP63', 'score': 42.01}, {'connected_gene': 'ANAPC13', 'score': 1.47}, {'connected_gene': 'GC03M134600', 'score': 0.77}]
chr3	GH03I134597	134597719	134597888	0.52	[{'connected_gene': 'EPHB1', 'score': 550.77}, {'connected_gene': 'ANAPC13', 'score': 52.49}, {'connected_gene': 'GC03M134600', 'score': 0.77}]
chr3	GH03I134307	134307988	134318458	1.91	[{'connected_gene': 'LINC02004', 'score': 550.77}, {'connected_gene': 'ENSG00000260633', 'score': 24.05}, {'connected_gene': 'ANAPC13', 'score': 15.56}, {'connected_gene': 'CEP63', 'score': 11.02}, {'connected_gene': 'LOC105374118', 'score': 0.39}]
chr3	GH03I134380	134380294	134383049	0.86	[{'connected_gene': 'ENSG00000260633', 'score': 15.49}, {'connected_gene': 'ANAPC13', 'score': 15.29}, {'connected_gene': 'CEP63', 'score': 10.21}, {'connected_gene': 'RYK', 'score': 10.11}, {'connected_gene': 'GC03P134378', 'score': 0.77}, {'connected_gene': 'HMGN1P9', 'score': 0.77}]
chr3	GH03I134601	134601931	134602759	0.62	[{'connected_gene': 'GC03M134600', 'score': 550.77}, {'connected_gene': 'ANAPC13', 'score': 52.45}, {'connected_gene': 'EPHB1', 'score': 0.77}, {'connected_gene': 'KY', 'score': 0.25}]
chr3	GH03I134600	134600601	134601457	0.64	[{'connected_gene': 'GC03M134600', 'score': 550.77}, {'connected_gene': 'ANAPC13', 'score': 54.56}, {'connected_gene': 'EPHB1', 'score': 0.77}, {'connected_gene': 'KY', 'score': 0.23}]