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
ENST00000340736	[[14260749, 14262427], [14262944, 14262962], [14263120, 14263249], [14263328, 14263425], [14263595, 14263724], [14266170, 14266339], [14266921, 14267013], [14267469, 14267536], [14267736, 14267957], [14268062, 14268272], [14268693, 14268864], [14269149, 14269364], [14269901, 14270027], [14270212, 14270396], [14270546, 14270585], [14270923, 14271109], [14271404, 14271508], [14272123, 14272438], [14273417, 14274218], [14277827, 14277842], [14281493, 14281603], [14288342, 14288556], [14294344, 14294509], [14316796, 14316999]]	[[14261684, 14262427], [14262944, 14262962], [14263120, 14263249], [14263328, 14263425], [14263595, 14263724], [14266170, 14266339], [14266921, 14267013], [14267469, 14267536], [14267736, 14267957], [14268062, 14268272], [14268693, 14268864], [14269149, 14269364], [14269901, 14270027], [14270212, 14270396], [14270546, 14270585], [14270923, 14271109], [14271404, 14271508], [14272123, 14272438], [14273417, 14274218], [14277827, 14277842], [14281493, 14281603], [14288342, 14288556], [14294344, 14294414]]
ENST00000361434	[[14260764, 14262427], [14262944, 14262962], [14263120, 14263249], [14263328, 14263425], [14263595, 14263724], [14266170, 14266339], [14266921, 14267013], [14267469, 14267536], [14267736, 14267957], [14268062, 14268272], [14268693, 14268864], [14269149, 14269364], [14269901, 14270027], [14270212, 14270396], [14270546, 14270585], [14270923, 14271109], [14271404, 14271508], [14272123, 14272438], [14273417, 14274218], [14281493, 14281603], [14288342, 14288556], [14294344, 14294509], [14316796, 14316981]]	[[14261684, 14262427], [14262944, 14262962], [14263120, 14263249], [14263328, 14263425], [14263595, 14263724], [14266170, 14266339], [14266921, 14267013], [14267469, 14267536], [14267736, 14267957], [14268062, 14268272], [14268693, 14268864], [14269149, 14269364], [14269901, 14270027], [14270212, 14270396], [14270546, 14270585], [14270923, 14271109], [14271404, 14271508], [14272123, 14272438], [14273417, 14274218], [14281493, 14281603], [14288342, 14288556], [14294344, 14294414]]
ENST00000590223	[[14281299, 14281603], [14288342, 14288462]]	None
ENST00000593005	[[14261980, 14262427], [14263120, 14263249], [14263328, 14263425], [14263595, 14263651]]	[[14261980, 14262427], [14263120, 14263249], [14263328, 14263425], [14263595, 14263651]]
ENST00000592164	[[14262019, 14262427], [14262944, 14263034], [14263120, 14263249], [14263328, 14263425], [14263595, 14263662]]	[[14262019, 14262427], [14262944, 14263034], [14263120, 14263249], [14263328, 14263425], [14263595, 14263662]]
ENST00000589616	[[14269986, 14270027], [14270212, 14270396], [14270546, 14270585], [14270923, 14271109], [14272123, 14272348]]	[[14269986, 14270027], [14270212, 14270396], [14270546, 14270585], [14270923, 14271109], [14272123, 14272348]]
ENST00000588677	[[14270300, 14270396], [14270546, 14270585], [14270923, 14271392]]	None
ENST00000591528	[[14273759, 14274218], [14275432, 14275517], [14277827, 14277842], [14281493, 14281546]]	None
NM_001008701	[[14258548, 14262427], [14262944, 14262962], [14263120, 14263249], [14263328, 14263425], [14263595, 14263724], [14266170, 14266339], [14266921, 14267013], [14267469, 14267536], [14267736, 14267957], [14268062, 14268272], [14268693, 14268864], [14269149, 14269364], [14269901, 14270027], [14270212, 14270396], [14270546, 14270585], [14270923, 14271109], [14271404, 14271508], [14272123, 14272438], [14273417, 14274218], [14277827, 14277842], [14281493, 14281603], [14288342, 14288556], [14294344, 14294509], [14316796, 14316997]]	[[14261684, 14262427], [14262944, 14262962], [14263120, 14263249], [14263328, 14263425], [14263595, 14263724], [14266170, 14266339], [14266921, 14267013], [14267469, 14267536], [14267736, 14267957], [14268062, 14268272], [14268693, 14268864], [14269149, 14269364], [14269901, 14270027], [14270212, 14270396], [14270546, 14270585], [14270923, 14271109], [14271404, 14271508], [14272123, 14272438], [14273417, 14274218], [14277827, 14277842], [14281493, 14281603], [14288342, 14288556], [14294344, 14294414]]
NM_014921	[[14258548, 14262427], [14262944, 14262962], [14263120, 14263249], [14263328, 14263425], [14263595, 14263724], [14266170, 14266339], [14266921, 14267013], [14267469, 14267536], [14267736, 14267957], [14268062, 14268272], [14268693, 14268864], [14269149, 14269364], [14269901, 14270027], [14270212, 14270396], [14270546, 14270585], [14270923, 14271109], [14271404, 14271508], [14272123, 14272438], [14273417, 14274218], [14281493, 14281603], [14288342, 14288556], [14294344, 14294509], [14316796, 14316997]]	[[14261684, 14262427], [14262944, 14262962], [14263120, 14263249], [14263328, 14263425], [14263595, 14263724], [14266170, 14266339], [14266921, 14267013], [14267469, 14267536], [14267736, 14267957], [14268062, 14268272], [14268693, 14268864], [14269149, 14269364], [14269901, 14270027], [14270212, 14270396], [14270546, 14270585], [14270923, 14271109], [14271404, 14271508], [14272123, 14272438], [14273417, 14274218], [14281493, 14281603], [14288342, 14288556], [14294344, 14294414]]

Promoter

Chrom	Start	End	Description
chr19	14294913	14294923	CAGE_peak_7_at_LPHN1_5end
chr19	14316980	14316983	CAGE_peak_1_at_LPHN1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I014216	14216601	14218056	1.37	[{'connected_gene': 'CCDC130', 'score': 26.61}, {'connected_gene': 'DCAF15', 'score': 20.47}, {'connected_gene': 'DDX39A', 'score': 16.32}, {'connected_gene': 'RFX1', 'score': 11.73}, {'connected_gene': 'ZNF333', 'score': 11.01}, {'connected_gene': 'ASF1B', 'score': 10.26}, {'connected_gene': 'MRI1', 'score': 10.02}, {'connected_gene': 'ADGRL1', 'score': 5.36}, {'connected_gene': 'RN7SL231P', 'score': 0.77}, {'connected_gene': 'ENSG00000267406', 'score': 0.23}]
chr19	GH19I014191	14191024	14191640	0.31	[{'connected_gene': 'CCDC130', 'score': 15.14}, {'connected_gene': 'ZNF333', 'score': 12.29}, {'connected_gene': 'MRI1', 'score': 10.63}, {'connected_gene': 'GC19M014175', 'score': 0.44}, {'connected_gene': 'PIR42641', 'score': 0.44}, {'connected_gene': 'ADGRL1', 'score': 0.39}]
chr19	GH19I014209	14209107	14210524	0.51	[{'connected_gene': 'CCDC130', 'score': 17.85}, {'connected_gene': 'MRI1', 'score': 13.46}, {'connected_gene': 'DCAF15', 'score': 12.03}, {'connected_gene': 'RFX1', 'score': 11.94}, {'connected_gene': 'DDX39A', 'score': 10.29}, {'connected_gene': 'ZNF333', 'score': 10.03}, {'connected_gene': 'RN7SL231P', 'score': 0.77}, {'connected_gene': 'ADGRL1', 'score': 0.77}]
chr19	GH19I013747	13747141	13749296	2.07	[{'connected_gene': 'CCDC130', 'score': 585.36}, {'connected_gene': 'TRMT1', 'score': 48.61}, {'connected_gene': 'DDX39A', 'score': 26.4}, {'connected_gene': 'MRI1', 'score': 25.15}, {'connected_gene': 'DCAF15', 'score': 22.0}, {'connected_gene': 'RFX1', 'score': 19.59}, {'connected_gene': 'LOC284454', 'score': 14.34}, {'connected_gene': 'ZNF333', 'score': 12.27}, {'connected_gene': 'ADGRL1', 'score': 12.1}, {'connected_gene': 'RNASEH2A', 'score': 12.01}, {'connected_gene': 'NANOS3', 'score': 11.63}, {'connected_gene': 'RPS6P25', 'score': 11.24}, {'connected_gene': 'SYCE2', 'score': 9.7}]
chr19	GH19I013632	13632413	13634079	1.35	[{'connected_gene': 'CACNA1A', 'score': 560.74}, {'connected_gene': 'CCDC130', 'score': 88.08}, {'connected_gene': 'MRI1', 'score': 65.19}, {'connected_gene': 'WDR83OS', 'score': 64.4}, {'connected_gene': 'TRMT1', 'score': 45.04}, {'connected_gene': 'TRIR', 'score': 41.36}, {'connected_gene': 'RPS6P25', 'score': 31.1}, {'connected_gene': 'RFX1', 'score': 29.8}, {'connected_gene': 'DCAF15', 'score': 23.95}, {'connected_gene': 'DDX39A', 'score': 20.91}, {'connected_gene': 'MAN2B1', 'score': 19.56}, {'connected_gene': 'SNRPGP15', 'score': 18.49}, {'connected_gene': 'ADGRL1', 'score': 14.71}, {'connected_gene': 'DHPS', 'score': 11.94}, {'connected_gene': 'TNPO2', 'score': 11.84}, {'connected_gene': 'RTBDN', 'score': 11.29}, {'connected_gene': 'ZNF490', 'score': 11.08}, {'connected_gene': 'SYCE2', 'score': 10.46}, {'connected_gene': 'FBXW9', 'score': 9.97}, {'connected_gene': 'GC19M013679', 'score': 0.25}]
chr19	GH19I014471	14471396	14479161	1.68	[{'connected_gene': 'PTGER1', 'score': 556.27}, {'connected_gene': 'CCDC130', 'score': 49.93}, {'connected_gene': 'AKAP8', 'score': 47.19}, {'connected_gene': 'MRI1', 'score': 32.21}, {'connected_gene': 'ZNF333', 'score': 30.49}, {'connected_gene': 'BRD4', 'score': 24.14}, {'connected_gene': 'DCAF15', 'score': 21.91}, {'connected_gene': 'RFX1', 'score': 21.09}, {'connected_gene': 'DDX39A', 'score': 12.62}, {'connected_gene': 'ADGRL1', 'score': 12.12}, {'connected_gene': 'NANOS3', 'score': 11.53}, {'connected_gene': 'PKN1', 'score': 7.33}, {'connected_gene': 'GIPC1', 'score': 5.73}, {'connected_gene': 'DNAJB1', 'score': 4.8}, {'connected_gene': 'ENSG00000267474', 'score': 0.37}]
chr19	GH19I014147	14147729	14151670	1.14	[{'connected_gene': 'PRKACA', 'score': 13.81}, {'connected_gene': 'PIR43598', 'score': 0.44}, {'connected_gene': 'GC19M014160', 'score': 0.44}, {'connected_gene': 'LOC100507373', 'score': 0.39}, {'connected_gene': 'ADGRL1', 'score': 0.22}]
chr19	GH19I014165	14165711	14168517	0.8	[{'connected_gene': 'PRKACA', 'score': 14.59}, {'connected_gene': 'PIR54415', 'score': 0.77}, {'connected_gene': 'GC19P014171', 'score': 0.77}, {'connected_gene': 'LOC100507373', 'score': 0.31}, {'connected_gene': 'ADGRL1', 'score': 0.28}]
chr19	GH19I013773	13773301	13776043	2.12	[{'connected_gene': 'C19orf53', 'score': 566.84}, {'connected_gene': 'ENSG00000267633', 'score': 550.77}, {'connected_gene': 'MRI1', 'score': 27.85}, {'connected_gene': 'CCDC130', 'score': 13.87}, {'connected_gene': 'ADGRL1', 'score': 12.1}, {'connected_gene': 'NANOS3', 'score': 11.67}, {'connected_gene': 'ZNF333', 'score': 11.11}, {'connected_gene': 'TRMT1', 'score': 9.79}, {'connected_gene': 'RPS6P25', 'score': 9.7}, {'connected_gene': 'GC19P013795', 'score': 0.34}]
chr19	GH19I014205	14205400	14208066	2.24	[{'connected_gene': 'ADGRL1', 'score': 565.45}, {'connected_gene': 'ZNF333', 'score': 12.23}, {'connected_gene': 'CACNA1A', 'score': 10.0}, {'connected_gene': 'RN7SL231P', 'score': 0.44}]
chr19	GH19I013212	13212947	13213096	0.84	[{'connected_gene': 'ADGRL1', 'score': 12.08}, {'connected_gene': 'ZNF442', 'score': 12.03}, {'connected_gene': 'NANOS3', 'score': 11.53}, {'connected_gene': 'ZNF791', 'score': 11.31}, {'connected_gene': 'ZNF44', 'score': 10.39}, {'connected_gene': 'TNPO2', 'score': 10.12}, {'connected_gene': 'ZNF563', 'score': 9.86}, {'connected_gene': 'ZNF709', 'score': 9.81}, {'connected_gene': 'GC19P013200', 'score': 0.39}, {'connected_gene': 'GC19M013244', 'score': 0.29}, {'connected_gene': 'CACNA1A', 'score': 0.05}]
chr19	GH19I013260	13260599	13262200	1.03	[{'connected_gene': 'ADGRL1', 'score': 12.08}, {'connected_gene': 'NANOS3', 'score': 11.53}, {'connected_gene': 'TNPO2', 'score': 10.11}, {'connected_gene': 'ZNF709', 'score': 9.81}, {'connected_gene': 'GC19M013257', 'score': 0.77}, {'connected_gene': 'GC19P013251', 'score': 0.39}, {'connected_gene': 'GC19P013250', 'score': 0.39}, {'connected_gene': 'GC19P013252', 'score': 0.39}, {'connected_gene': 'GC19M013282', 'score': 0.34}, {'connected_gene': 'GC19M013249', 'score': 0.31}, {'connected_gene': 'CACNA1A', 'score': 0.05}]
chr19	GH19I013718	13717427	13717616	0.79	[{'connected_gene': 'ADGRL1', 'score': 12.1}, {'connected_gene': 'NANOS3', 'score': 11.61}, {'connected_gene': 'TNPO2', 'score': 10.1}, {'connected_gene': 'PIR44447', 'score': 0.77}, {'connected_gene': 'LOC105372284', 'score': 0.44}, {'connected_gene': 'GC19P013702', 'score': 0.39}]
chr19	GH19I013717	13717111	13717357	0.72	[{'connected_gene': 'ADGRL1', 'score': 12.1}, {'connected_gene': 'NANOS3', 'score': 11.61}, {'connected_gene': 'TNPO2', 'score': 10.1}, {'connected_gene': 'PIR44447', 'score': 0.77}, {'connected_gene': 'LOC105372284', 'score': 0.44}, {'connected_gene': 'GC19P013702', 'score': 0.39}]
chr19	GH19I014203	14203201	14203692	0.96	[{'connected_gene': 'ADGRL1', 'score': 0.77}, {'connected_gene': 'PIR42641', 'score': 0.77}]
chr19	GH19I015123	15123396	15127107	2.28	[{'connected_gene': 'ILVBL', 'score': 557.35}, {'connected_gene': 'ENSG00000268564', 'score': 550.77}, {'connected_gene': 'AKAP8', 'score': 47.35}, {'connected_gene': 'BRD4', 'score': 24.67}, {'connected_gene': 'ZNF333', 'score': 22.93}, {'connected_gene': 'TPM4', 'score': 20.19}, {'connected_gene': 'AKAP8L', 'score': 19.3}, {'connected_gene': 'DDX39A', 'score': 12.42}, {'connected_gene': 'OR1I1', 'score': 12.21}, {'connected_gene': 'ADGRL1', 'score': 12.08}, {'connected_gene': 'ENSG00000268189', 'score': 11.65}, {'connected_gene': 'RAB8A', 'score': 10.81}, {'connected_gene': 'OR7C1', 'score': 9.8}, {'connected_gene': 'GC19P015120', 'score': 0.77}]
chr19	GH19I013864	13864067	13866839	1.85	[{'connected_gene': 'SNRPGP15', 'score': 9.86}, {'connected_gene': 'ADGRL1', 'score': 6.28}, {'connected_gene': 'CACNA1A', 'score': 6.16}, {'connected_gene': 'C19orf57', 'score': 2.94}, {'connected_gene': 'ZSWIM4', 'score': 2.53}, {'connected_gene': 'RFX1', 'score': 2.28}, {'connected_gene': 'CC2D1A', 'score': 1.41}, {'connected_gene': 'NANOS3', 'score': 0.77}, {'connected_gene': 'MIR181C', 'score': 0.44}]
chr19	GH19I014195	14195801	14196478	1.22	[{'connected_gene': 'SNRPGP15', 'score': 9.85}, {'connected_gene': 'PIR42641', 'score': 0.44}, {'connected_gene': 'ADGRL1', 'score': 0.39}, {'connected_gene': 'GC19M014175', 'score': 0.39}]
chr19	GH19I014080	14080001	14082800	1.71	[{'connected_gene': 'GC19M014079', 'score': 550.77}, {'connected_gene': 'PRKACA', 'score': 18.09}, {'connected_gene': 'PALM3', 'score': 16.12}, {'connected_gene': 'ADGRE5', 'score': 5.17}, {'connected_gene': 'ZSWIM4', 'score': 5.03}, {'connected_gene': 'ADGRL1', 'score': 4.68}, {'connected_gene': 'CCDC130', 'score': 2.84}, {'connected_gene': 'RFX1', 'score': 2.66}, {'connected_gene': 'PKN1', 'score': 2.13}, {'connected_gene': 'DCAF15', 'score': 1.75}, {'connected_gene': 'DNAJB1', 'score': 1.38}, {'connected_gene': 'C19orf67', 'score': 0.77}, {'connected_gene': 'MIR1199', 'score': 0.44}]
chr19	GH19I014163	14163692	14163959	0.46	[{'connected_gene': 'PIR54415', 'score': 550.77}, {'connected_gene': 'PRKACA', 'score': 13.28}, {'connected_gene': 'ADGRL1', 'score': 2.95}, {'connected_gene': 'C19orf57', 'score': 1.28}, {'connected_gene': 'RFX1', 'score': 1.22}, {'connected_gene': 'GC19P014171', 'score': 0.44}, {'connected_gene': 'LOC100507373', 'score': 0.31}]
chr19	GH19I014407	14407371	14410958	0.94	[{'connected_gene': 'ENSG00000267379', 'score': 550.77}, {'connected_gene': 'ADGRL1', 'score': 12.13}, {'connected_gene': 'NANOS3', 'score': 11.53}, {'connected_gene': 'DDX39A', 'score': 0.39}, {'connected_gene': 'ADGRE5', 'score': 0.31}]
chr19	GH19I014198	14198617	14199514	0.54	[{'connected_gene': 'PIR42641', 'score': 0.77}, {'connected_gene': 'ADGRL1', 'score': 0.44}, {'connected_gene': 'GC19M014175', 'score': 0.39}]
chr19	GH19I014200	14200189	14200338	1.01	[{'connected_gene': 'PIR42641', 'score': 550.77}, {'connected_gene': 'ADGRL1', 'score': 0.44}, {'connected_gene': 'GC19M014175', 'score': 0.37}]
chr19	GH19I014188	14187401	14187600	0.43	[{'connected_gene': 'GC19M014175', 'score': 0.77}, {'connected_gene': 'PIR42641', 'score': 0.39}, {'connected_gene': 'ADGRL1', 'score': 0.37}]
chr19	GH19I014187	14187801	14188000	0.56	[{'connected_gene': 'GC19M014175', 'score': 0.77}, {'connected_gene': 'PIR42641', 'score': 0.39}, {'connected_gene': 'ADGRL1', 'score': 0.37}]
chr19	GH19I014201	14201664	14202248	0.46	[{'connected_gene': 'PIR42641', 'score': 550.77}, {'connected_gene': 'ADGRL1', 'score': 0.77}]
chr19	GH19I014202	14202542	14203182	0.43	[{'connected_gene': 'PIR42641', 'score': 550.77}, {'connected_gene': 'ADGRL1', 'score': 0.77}]
chr19	GH19I014185	14185222	14186184	0.46	[{'connected_gene': 'GC19M014175', 'score': 550.77}, {'connected_gene': 'PIR42641', 'score': 0.37}, {'connected_gene': 'ADGRL1', 'score': 0.34}]