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
ENST00000486773	[[154442247, 154442838], [154458418, 154458520]]	[[154442816, 154442838], [154458418, 154458520]]
ENST00000555188	[[154451956, 154458538], [154459002, 154459159], [154461526, 154461642]]	[[154458414, 154458538], [154459002, 154459159], [154461526, 154461642]]
ENST00000304760	[[154451956, 154456811], [154458418, 154458538], [154459002, 154459159], [154461526, 154461832], [154471587, 154471714], [154473911, 154474589]]	[[154456624, 154456811], [154458418, 154458538], [154459002, 154459159], [154461526, 154461832], [154471587, 154471714], [154473911, 154474502]]
NM_001010846	[[154451953, 154456811], [154458418, 154458538], [154459002, 154459159], [154461526, 154461832], [154471587, 154471714], [154473911, 154474526]]	[[154456624, 154456811], [154458418, 154458538], [154459002, 154459159], [154461526, 154461832], [154471587, 154471714], [154473911, 154474502]]
NR_135169	[[154451956, 154456811], [154458418, 154458538], [154459002, 154459154], [154461526, 154461832], [154471587, 154471714], [154473911, 154474526]]	None

Promoter

Chrom	Start	End	Description
chr1	154474220	154474231	CAGE_peak_5_at_SHE_5end
chr1	154474247	154474267	CAGE_peak_2_at_SHE_5end
chr1	154474878	154474925	CAGE_peak_1_at_SHE_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I154494	154494801	154495000	0.94	[{'connected_gene': 'UBAP2L', 'score': 14.35}, {'connected_gene': 'CLK2', 'score': 12.81}, {'connected_gene': 'SLC27A3', 'score': 12.36}, {'connected_gene': 'CRTC2', 'score': 11.86}, {'connected_gene': 'UBE2Q1-AS1', 'score': 11.35}, {'connected_gene': 'UBE2Q1', 'score': 11.33}, {'connected_gene': 'CHTOP', 'score': 11.16}, {'connected_gene': 'FLAD1', 'score': 10.63}, {'connected_gene': 'RNU7-57P', 'score': 10.44}, {'connected_gene': 'ATP8B2', 'score': 10.44}, {'connected_gene': 'SHC1', 'score': 10.42}, {'connected_gene': 'ADAR', 'score': 9.34}, {'connected_gene': 'C1orf189', 'score': 9.23}, {'connected_gene': 'SHE', 'score': 0.44}, {'connected_gene': 'ENSG00000273110', 'score': 0.39}]
chr1	GH01I154384	154384918	154387432	1.67	[{'connected_gene': 'ATP8B2', 'score': 17.19}, {'connected_gene': 'IL6R-AS1', 'score': 12.49}, {'connected_gene': 'RNU7-57P', 'score': 11.16}, {'connected_gene': 'UBE2Q1-AS1', 'score': 10.5}, {'connected_gene': 'UBE2Q1', 'score': 10.5}, {'connected_gene': 'SHE', 'score': 10.34}, {'connected_gene': 'TDRD10', 'score': 10.34}, {'connected_gene': 'C1orf189', 'score': 10.08}, {'connected_gene': 'SNAPIN', 'score': 4.37}, {'connected_gene': 'UBAP2L', 'score': 4.01}, {'connected_gene': 'CRTC2', 'score': 3.23}, {'connected_gene': 'GATAD2B', 'score': 2.35}, {'connected_gene': 'RPS27', 'score': 2.32}, {'connected_gene': 'DENND4B', 'score': 1.92}, {'connected_gene': 'ENSG00000237920', 'score': 0.44}, {'connected_gene': 'IL6R', 'score': 0.37}]
chr1	GH01I154501	154501295	154503358	1.5	[{'connected_gene': 'SHE', 'score': 562.28}, {'connected_gene': 'TDRD10', 'score': 560.83}, {'connected_gene': 'UBE2Q1-AS1', 'score': 11.01}, {'connected_gene': 'UBE2Q1', 'score': 11.0}, {'connected_gene': 'IL6R', 'score': 8.55}, {'connected_gene': 'PIR57366', 'score': 0.44}]
chr1	GH01I154499	154499401	154499600	0.58	[{'connected_gene': 'SHE', 'score': 0.77}, {'connected_gene': 'ENSG00000273110', 'score': 0.37}]
chr1	GH01I154490	154490400	154490800	0.97	[{'connected_gene': 'SHE', 'score': 0.39}, {'connected_gene': 'ENSG00000273110', 'score': 0.39}]
chr1	GH01I154458	154458709	154461290	0.74	[{'connected_gene': 'TDRD10', 'score': 17.96}, {'connected_gene': 'SHE', 'score': 9.57}, {'connected_gene': 'IL6R', 'score': 8.02}, {'connected_gene': 'ENSG00000273110', 'score': 0.34}, {'connected_gene': 'PSMD8P1', 'score': 0.26}]
chr1	GH01I154492	154492193	154494198	1.07	[{'connected_gene': 'TDRD10', 'score': 23.17}, {'connected_gene': 'UBE2Q1-AS1', 'score': 11.33}, {'connected_gene': 'UBE2Q1', 'score': 11.33}, {'connected_gene': 'RNU7-57P', 'score': 10.44}, {'connected_gene': 'ATP8B2', 'score': 10.44}, {'connected_gene': 'SHE', 'score': 10.35}, {'connected_gene': 'ADAR', 'score': 9.34}, {'connected_gene': 'C1orf189', 'score': 9.23}, {'connected_gene': 'GBA', 'score': 6.47}, {'connected_gene': 'ENSG00000273110', 'score': 0.39}]
chr1	GH01I154404	154404470	154410293	2.26	[{'connected_gene': 'IL6R-AS1', 'score': 550.77}, {'connected_gene': 'IL6R', 'score': 550.77}, {'connected_gene': 'LOC101928101', 'score': 550.77}, {'connected_gene': 'ATP8B2', 'score': 15.0}, {'connected_gene': 'RNU7-57P', 'score': 10.8}, {'connected_gene': 'UBE2Q1-AS1', 'score': 10.45}, {'connected_gene': 'UBE2Q1', 'score': 10.44}, {'connected_gene': 'SHE', 'score': 10.3}, {'connected_gene': 'TDRD10', 'score': 10.3}, {'connected_gene': 'SNORA58B', 'score': 9.85}, {'connected_gene': 'UBAP2L', 'score': 9.83}, {'connected_gene': 'C1orf189', 'score': 9.22}, {'connected_gene': 'ADAR', 'score': 8.55}]
chr1	GH01I154450	154450342	154451242	0.2	[{'connected_gene': 'IL6R-AS1', 'score': 11.52}, {'connected_gene': 'IL6R', 'score': 11.51}, {'connected_gene': 'RNU7-57P', 'score': 11.06}, {'connected_gene': 'ATP8B2', 'score': 11.05}, {'connected_gene': 'UBE2Q1', 'score': 10.67}, {'connected_gene': 'CHRNB2', 'score': 10.65}, {'connected_gene': 'UBE2Q1-AS1', 'score': 10.39}, {'connected_gene': 'SNORA58B', 'score': 9.48}, {'connected_gene': 'UBAP2L', 'score': 9.46}, {'connected_gene': 'C1orf189', 'score': 9.28}, {'connected_gene': 'SHE', 'score': 6.79}, {'connected_gene': 'ENSG00000273110', 'score': 0.31}, {'connected_gene': 'PSMD8P1', 'score': 0.28}]
chr1	GH01I154483	154483931	154487083	1.34	[{'connected_gene': 'LOC101928120', 'score': 14.09}, {'connected_gene': 'ENSG00000272654', 'score': 12.23}, {'connected_gene': 'DPM3', 'score': 12.03}, {'connected_gene': 'UBE2Q1-AS1', 'score': 11.53}, {'connected_gene': 'UBE2Q1', 'score': 11.52}, {'connected_gene': 'CHRNB2', 'score': 11.43}, {'connected_gene': 'FAM189B', 'score': 10.95}, {'connected_gene': 'INTS3', 'score': 10.35}, {'connected_gene': 'RNU7-57P', 'score': 9.98}, {'connected_gene': 'ATP8B2', 'score': 9.98}, {'connected_gene': 'KRTCAP2', 'score': 9.7}, {'connected_gene': 'ADAR', 'score': 9.47}, {'connected_gene': 'IL6R', 'score': 8.3}, {'connected_gene': 'SHE', 'score': 7.36}, {'connected_gene': 'GBA', 'score': 6.03}, {'connected_gene': 'ENSG00000273110', 'score': 0.44}]
chr1	GH01I154478	154477004	154477074	0.58	[{'connected_gene': 'UBE2Q1-AS1', 'score': 11.64}, {'connected_gene': 'UBE2Q1', 'score': 11.63}, {'connected_gene': 'SHE', 'score': 11.38}, {'connected_gene': 'TDRD10', 'score': 11.38}, {'connected_gene': 'IL6R-AS1', 'score': 11.22}, {'connected_gene': 'IL6R', 'score': 11.22}, {'connected_gene': 'CHRNB2', 'score': 11.19}, {'connected_gene': 'RNU7-57P', 'score': 10.67}, {'connected_gene': 'ATP8B2', 'score': 10.66}, {'connected_gene': 'SNORA58B', 'score': 9.55}, {'connected_gene': 'UBAP2L', 'score': 9.54}, {'connected_gene': 'C1orf189', 'score': 9.43}, {'connected_gene': 'TPM3', 'score': 9.17}, {'connected_gene': 'MIR190B', 'score': 9.17}, {'connected_gene': 'ENSG00000273110', 'score': 0.77}, {'connected_gene': 'PSMD8P1', 'score': 0.21}]
chr1	GH01I154497	154496027	154496158	0.56	[{'connected_gene': 'UBE2Q1-AS1', 'score': 11.35}, {'connected_gene': 'UBE2Q1', 'score': 11.33}, {'connected_gene': 'RNU7-57P', 'score': 10.44}, {'connected_gene': 'ATP8B2', 'score': 10.43}, {'connected_gene': 'ADAR', 'score': 9.34}, {'connected_gene': 'C1orf189', 'score': 9.23}, {'connected_gene': 'SHE', 'score': 5.89}, {'connected_gene': 'ENSG00000273110', 'score': 0.37}]
chr1	GH01I154496	154496324	154497723	1.3	[{'connected_gene': 'UBE2Q1-AS1', 'score': 11.35}, {'connected_gene': 'UBE2Q1', 'score': 11.33}, {'connected_gene': 'RNU7-57P', 'score': 10.44}, {'connected_gene': 'ATP8B2', 'score': 10.43}, {'connected_gene': 'ADAR', 'score': 9.34}, {'connected_gene': 'C1orf189', 'score': 9.23}, {'connected_gene': 'SHE', 'score': 0.44}, {'connected_gene': 'ENSG00000273110', 'score': 0.37}]
chr1	GH01I154553	154553314	154553958	0.43	[{'connected_gene': 'UBE2Q1-AS1', 'score': 550.77}, {'connected_gene': 'IL6R', 'score': 9.98}, {'connected_gene': 'SHE', 'score': 9.1}, {'connected_gene': 'GBA', 'score': 5.75}, {'connected_gene': 'UBE2Q1', 'score': 0.44}]
chr1	GH01I154479	154479601	154480400	1.27	[{'connected_gene': 'ENSG00000273110', 'score': 550.77}, {'connected_gene': 'IL6R', 'score': 21.49}, {'connected_gene': 'UBE2Q1-AS1', 'score': 11.65}, {'connected_gene': 'UBE2Q1', 'score': 11.64}, {'connected_gene': 'SHE', 'score': 11.41}, {'connected_gene': 'TDRD10', 'score': 11.41}, {'connected_gene': 'IL6R-AS1', 'score': 11.22}, {'connected_gene': 'CHRNB2', 'score': 11.19}, {'connected_gene': 'ILF2', 'score': 10.75}, {'connected_gene': 'CHTOP', 'score': 10.74}, {'connected_gene': 'RNU7-57P', 'score': 10.67}, {'connected_gene': 'ATP8B2', 'score': 10.66}, {'connected_gene': 'DCST1', 'score': 10.18}, {'connected_gene': 'SNORA58B', 'score': 9.55}, {'connected_gene': 'UBAP2L', 'score': 9.54}, {'connected_gene': 'C1orf189', 'score': 9.43}, {'connected_gene': 'TPM3', 'score': 9.18}, {'connected_gene': 'MIR190B', 'score': 9.18}, {'connected_gene': 'GBA', 'score': 6.03}, {'connected_gene': 'PSMD8P1', 'score': 0.21}]
chr1	GH01I154469	154469309	154470374	0.74	[{'connected_gene': 'ENSG00000273110', 'score': 0.39}, {'connected_gene': 'SHE', 'score': 0.29}, {'connected_gene': 'PSMD8P1', 'score': 0.23}, {'connected_gene': 'IL6R', 'score': 0.21}]
chr1	GH01I154473	154473921	154474447	0.31	[{'connected_gene': 'ENSG00000273110', 'score': 0.44}, {'connected_gene': 'SHE', 'score': 0.31}, {'connected_gene': 'PSMD8P1', 'score': 0.22}]
chr1	GH01I154474	154474800	154475201	0.96	[{'connected_gene': 'ENSG00000273110', 'score': 0.44}, {'connected_gene': 'SHE', 'score': 0.31}, {'connected_gene': 'PSMD8P1', 'score': 0.22}]
chr1	GH01I154477	154477223	154478828	1.03	[{'connected_gene': 'ENSG00000273110', 'score': 550.77}, {'connected_gene': 'UBE2Q1-AS1', 'score': 11.64}, {'connected_gene': 'UBE2Q1', 'score': 11.63}, {'connected_gene': 'SHE', 'score': 11.41}, {'connected_gene': 'TDRD10', 'score': 11.41}, {'connected_gene': 'IL6R-AS1', 'score': 11.22}, {'connected_gene': 'IL6R', 'score': 11.22}, {'connected_gene': 'CHRNB2', 'score': 11.19}, {'connected_gene': 'RNU7-57P', 'score': 10.67}, {'connected_gene': 'ATP8B2', 'score': 10.66}, {'connected_gene': 'SNORA58B', 'score': 9.55}, {'connected_gene': 'UBAP2L', 'score': 9.54}, {'connected_gene': 'C1orf189', 'score': 9.43}, {'connected_gene': 'TPM3', 'score': 9.17}, {'connected_gene': 'MIR190B', 'score': 9.17}, {'connected_gene': 'PSMD8P1', 'score': 0.21}]