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
ENST00000366535	[[244571795, 244572940], [244574588, 244574738], [244579282, 244579380], [244580929, 244581054], [244582061, 244582216], [244583471, 244583598], [244586136, 244586218], [244587254, 244587362], [244587622, 244587689], [244595846, 244595897], [244600126, 244600195], [244600967, 244601070], [244614936, 244615436]]	[[244572887, 244572940], [244574588, 244574738], [244579282, 244579380], [244580929, 244581054], [244582061, 244582216], [244583471, 244583598], [244586136, 244586218], [244587254, 244587362], [244587622, 244587689], [244595846, 244595897], [244600126, 244600195], [244600967, 244601070], [244614936, 244615119]]
ENST00000468215	[[244574668, 244574738], [244579282, 244579380], [244580929, 244581054], [244582061, 244582575]]	None
ENST00000462358	[[244582195, 244582216], [244583471, 244583598], [244586136, 244586218], [244587254, 244587362], [244587622, 244588216]]	None
NM_001126	[[244571793, 244572940], [244574588, 244574738], [244579282, 244579380], [244580929, 244581054], [244582061, 244582216], [244583471, 244583598], [244586136, 244586218], [244587254, 244587362], [244587622, 244587689], [244595846, 244595897], [244600126, 244600195], [244600967, 244601070], [244614936, 244615436]]	[[244572887, 244572940], [244574588, 244574738], [244579282, 244579380], [244580929, 244581054], [244582061, 244582216], [244583471, 244583598], [244586136, 244586218], [244587254, 244587362], [244587622, 244587689], [244595846, 244595897], [244600126, 244600195], [244600967, 244601070], [244614936, 244615119]]

Promoter

Chrom	Start	End	Description
chr1	244615163	244615196	CAGE_peak_2_at_ADSS_5end
chr1	244615199	244615238	CAGE_peak_1_at_ADSS_5end
chr1	244615327	244615384	CAGE_peak_3_at_ADSS_5end
chr1	244615385	244615422	CAGE_peak_4_at_ADSS_5end
chr1	244615425	244615441	CAGE_peak_9_at_ADSS_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I244734	244734673	244736943	1.09	[{'connected_gene': 'DESI2', 'score': 7.65}, {'connected_gene': 'ADSS', 'score': 1.75}, {'connected_gene': 'ENSG00000282317', 'score': 0.77}, {'connected_gene': 'COX20', 'score': 0.15}]
chr1	GH01I244599	244599103	244600819	1.4	[{'connected_gene': 'CYCSP5', 'score': 550.77}, {'connected_gene': 'HNRNPU', 'score': 11.91}, {'connected_gene': 'DESI2', 'score': 11.03}, {'connected_gene': 'ADSS', 'score': 2.83}, {'connected_gene': 'EFCAB2', 'score': 1.13}, {'connected_gene': 'CATSPERE', 'score': 0.11}]
chr1	GH01I244860	244860199	244866940	2.54	[{'connected_gene': 'HNRNPU', 'score': 653.01}, {'connected_gene': 'ENSG00000273175', 'score': 561.52}, {'connected_gene': 'DESI2', 'score': 80.89}, {'connected_gene': 'COX20', 'score': 34.8}, {'connected_gene': 'LOC101928068', 'score': 29.42}, {'connected_gene': 'ADSS', 'score': 21.4}, {'connected_gene': 'CATSPERE', 'score': 19.79}]
chr1	GH01I245337	245337316	245338803	0.92	[{'connected_gene': 'HNRNPU', 'score': 36.44}, {'connected_gene': 'DESI2', 'score': 18.83}, {'connected_gene': 'LOC101928068', 'score': 13.67}, {'connected_gene': 'KIF26B', 'score': 10.86}, {'connected_gene': 'KIF26B-AS1', 'score': 10.63}, {'connected_gene': 'ADSS', 'score': 9.8}, {'connected_gene': 'PIR44116', 'score': 0.34}, {'connected_gene': 'LOC105373266', 'score': 0.14}]
chr1	GH01I244318	244318188	244327227	1.71	[{'connected_gene': 'HNRNPU', 'score': 30.54}, {'connected_gene': 'ADSS', 'score': 17.74}, {'connected_gene': 'C1orf100', 'score': 11.98}, {'connected_gene': 'AKT3', 'score': 4.99}, {'connected_gene': 'LOC105373262', 'score': 0.77}, {'connected_gene': 'GC01M244263', 'score': 0.22}]
chr1	GH01I244460	244460109	244462497	1.92	[{'connected_gene': 'CATSPERE', 'score': 565.27}, {'connected_gene': 'DESI2', 'score': 10.33}, {'connected_gene': 'ADSS', 'score': 0.44}, {'connected_gene': 'GC01M244569', 'score': 0.14}]
chr1	GH01I244449	244449526	244453146	2.29	[{'connected_gene': 'CATSPERE', 'score': 560.99}, {'connected_gene': 'ADSS', 'score': 550.77}, {'connected_gene': 'ENSG00000236031', 'score': 27.46}, {'connected_gene': 'HNRNPU', 'score': 21.64}, {'connected_gene': 'DESI2', 'score': 19.66}, {'connected_gene': 'LOC101928068', 'score': 17.78}, {'connected_gene': 'COX20', 'score': 11.85}, {'connected_gene': 'LOC105373264', 'score': 0.37}]
chr1	GH01I244444	244444802	244446399	0.97	[{'connected_gene': 'CATSPERE', 'score': 11.79}, {'connected_gene': 'ADSS', 'score': 0.44}, {'connected_gene': 'LOC105373264', 'score': 0.39}]
chr1	GH01I244422	244422616	244425626	0.31	[{'connected_gene': 'CATSPERE', 'score': 23.12}, {'connected_gene': 'ADSS', 'score': 11.91}, {'connected_gene': 'LOC105373264', 'score': 0.44}, {'connected_gene': 'ENSG00000240963', 'score': 0.39}]
chr1	GH01I244439	244439292	244440183	1.07	[{'connected_gene': 'CATSPERE', 'score': 7.08}, {'connected_gene': 'ADSS', 'score': 5.25}, {'connected_gene': 'LOC105373264', 'score': 0.44}]
chr1	GH01I244435	244435273	244438358	1.18	[{'connected_gene': 'CATSPERE', 'score': 11.23}, {'connected_gene': 'ADSS', 'score': 5.22}, {'connected_gene': 'LOC105373264', 'score': 0.77}]
chr1	GH01I244453	244453707	244455215	0.56	[{'connected_gene': 'CATSPERE', 'score': 10.05}, {'connected_gene': 'ADSS', 'score': 0.77}, {'connected_gene': 'GC01M244569', 'score': 0.14}]
chr1	GH01I244352	244352092	244355357	2.19	[{'connected_gene': 'C1orf100', 'score': 555.59}, {'connected_gene': 'ENSG00000236031', 'score': 11.61}, {'connected_gene': 'HNRNPU', 'score': 10.61}, {'connected_gene': 'DESI2', 'score': 10.42}, {'connected_gene': 'ADSS', 'score': 9.19}, {'connected_gene': 'GC01M244395', 'score': 0.26}]
chr1	GH01I244346	244346564	244351556	1.73	[{'connected_gene': 'ADSS', 'score': 29.85}, {'connected_gene': 'ENSG00000236031', 'score': 24.16}, {'connected_gene': 'DESI2', 'score': 14.34}, {'connected_gene': 'HNRNPU', 'score': 11.15}, {'connected_gene': 'LOC101928068', 'score': 10.9}, {'connected_gene': 'AKT3', 'score': 9.98}, {'connected_gene': 'C1orf100', 'score': 0.77}, {'connected_gene': 'LOC105373262', 'score': 0.34}]
chr1	GH01I245345	245345318	245346188	0.84	[{'connected_gene': 'ADSS', 'score': 20.41}, {'connected_gene': 'HNRNPU', 'score': 9.89}, {'connected_gene': 'PIR44116', 'score': 0.29}, {'connected_gene': 'LOC105373266', 'score': 0.15}, {'connected_gene': 'KIF26B', 'score': 0.08}]
chr1	GH01I244442	244442137	244444194	0.46	[{'connected_gene': 'ADSS', 'score': 0.44}, {'connected_gene': 'CATSPERE', 'score': 0.44}, {'connected_gene': 'LOC105373264', 'score': 0.39}]
chr1	GH01I244360	244360892	244363201	1.37	[{'connected_gene': 'ADSS', 'score': 9.08}, {'connected_gene': 'C1orf100', 'score': 6.1}, {'connected_gene': 'GC01M244395', 'score': 0.29}]
chr1	GH01I244369	244369252	244370625	1.11	[{'connected_gene': 'ADSS', 'score': 8.5}, {'connected_gene': 'C1orf100', 'score': 0.37}, {'connected_gene': 'GC01M244395', 'score': 0.31}]
chr1	GH01I244368	244368259	244368707	0.46	[{'connected_gene': 'ADSS', 'score': 7.62}, {'connected_gene': 'C1orf100', 'score': 0.37}, {'connected_gene': 'GC01M244395', 'score': 0.31}]
chr1	GH01I243481	243481611	243484490	1.04	[{'connected_gene': 'ADSS', 'score': 4.48}, {'connected_gene': 'GC01P243494', 'score': 0.39}, {'connected_gene': 'PIR38464', 'score': 0.23}, {'connected_gene': 'SDCCAG8', 'score': 0.07}]
chr1	GH01I244832	244832420	244838776	2.34	[{'connected_gene': 'COX20', 'score': 584.0}, {'connected_gene': 'DESI2', 'score': 38.57}, {'connected_gene': 'HNRNPU', 'score': 37.45}, {'connected_gene': 'ADSS', 'score': 29.37}, {'connected_gene': 'LOC101928068', 'score': 22.86}, {'connected_gene': 'AKT3', 'score': 21.88}]
chr1	GH01I244886	244886988	244887902	0.46	[{'connected_gene': 'RNU6-947P', 'score': 11.49}, {'connected_gene': 'ADSS', 'score': 9.82}, {'connected_gene': 'ENSG00000273175', 'score': 0.34}, {'connected_gene': 'GC01P244944', 'score': 0.22}]
chr1	GH01I244429	244429839	244433729	0.52	[{'connected_gene': 'LOC105373264', 'score': 550.77}, {'connected_gene': 'CATSPERE', 'score': 19.44}, {'connected_gene': 'ADSS', 'score': 12.62}, {'connected_gene': 'ENSG00000240963', 'score': 0.34}]
chr1	GH01I244046	244046005	244053384	3.01	[{'connected_gene': 'ZBTB18', 'score': 573.21}, {'connected_gene': 'DESI2', 'score': 24.02}, {'connected_gene': 'ENSG00000253326', 'score': 15.36}, {'connected_gene': 'COX20', 'score': 15.18}, {'connected_gene': 'AKT3', 'score': 12.95}, {'connected_gene': 'HNRNPU', 'score': 12.83}, {'connected_gene': 'LINC01347', 'score': 11.61}, {'connected_gene': 'LOC101928068', 'score': 10.02}, {'connected_gene': 'ENSG00000236031', 'score': 9.97}, {'connected_gene': 'ADSS', 'score': 9.75}, {'connected_gene': 'SDCCAG8', 'score': 9.68}, {'connected_gene': 'LOC440742', 'score': 0.39}, {'connected_gene': 'LOC339529', 'score': 0.12}]
chr1	GH01I244967	244967941	244972590	2.34	[{'connected_gene': 'LOC101928068', 'score': 656.12}, {'connected_gene': 'EFCAB2', 'score': 617.26}, {'connected_gene': 'HNRNPU', 'score': 65.18}, {'connected_gene': 'COX20', 'score': 33.49}, {'connected_gene': 'ADSS', 'score': 20.34}, {'connected_gene': 'DESI2', 'score': 11.47}]
chr1	GH01I244341	244341083	244342558	1.49	[{'connected_gene': 'AKT3', 'score': 4.28}, {'connected_gene': 'ADSS', 'score': 3.83}, {'connected_gene': 'C1orf100', 'score': 0.39}, {'connected_gene': 'LOC105373262', 'score': 0.37}]
chr1	GH01I244253	244253766	244255384	1.08	[{'connected_gene': 'AKT3', 'score': 2.26}, {'connected_gene': 'ZBTB18', 'score': 2.04}, {'connected_gene': 'ADSS', 'score': 1.62}, {'connected_gene': 'GC01M244263', 'score': 0.44}, {'connected_gene': 'LOC105373262', 'score': 0.19}, {'connected_gene': 'LOC105373261', 'score': 0.12}]
chr1	GH01I244732	244732291	244732668	0.37	[{'connected_gene': 'ENSG00000284188', 'score': 550.77}, {'connected_gene': 'ENSG00000282317', 'score': 550.77}, {'connected_gene': 'DESI2', 'score': 5.52}, {'connected_gene': 'EFCAB2', 'score': 1.4}, {'connected_gene': 'ADSS', 'score': 1.38}, {'connected_gene': 'COX20', 'score': 0.15}]
chr1	GH01I244298	244298493	244304668	1.74	[{'connected_gene': 'ENSG00000236031', 'score': 11.61}, {'connected_gene': 'HNRNPU', 'score': 10.61}, {'connected_gene': 'DESI2', 'score': 10.41}, {'connected_gene': 'ADSS', 'score': 9.01}, {'connected_gene': 'AKT3', 'score': 4.57}, {'connected_gene': 'LOC105373262', 'score': 0.34}, {'connected_gene': 'GC01M244263', 'score': 0.28}]
chr1	GH01I244408	244408832	244410463	0.54	[{'connected_gene': 'ENSG00000240963', 'score': 550.77}, {'connected_gene': 'ADSS', 'score': 5.55}, {'connected_gene': 'LOC105373264', 'score': 0.34}]
chr1	GH01I244411	244411078	244413750	0.2	[{'connected_gene': 'ENSG00000240963', 'score': 0.77}, {'connected_gene': 'LOC105373264', 'score': 0.34}, {'connected_gene': 'ADSS', 'score': 0.28}]