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
ENST00000284061	[[54911459, 54911621], [54912138, 54912620], [54921379, 54921539], [54923050, 54923170], [54925282, 54925426], [54926056, 54926214], [54926541, 54926593], [54933872, 54933986], [54935954, 54936026], [54939151, 54939279], [54939500, 54939612], [54939972, 54946036]]	[[54912156, 54912620], [54921379, 54921539], [54923050, 54923170], [54925282, 54925426], [54926056, 54926214], [54926541, 54926593], [54933872, 54933986], [54935954, 54936026], [54939151, 54939279], [54939500, 54939612], [54939972, 54940152]]
ENST00000576869	[[54911491, 54911621], [54912138, 54912620], [54921379, 54921539], [54923050, 54923170], [54924720, 54924790], [54924876, 54925019]]	None
ENST00000572944	[[54912326, 54912620], [54921379, 54921539], [54923050, 54923170], [54925282, 54925426], [54926056, 54926214], [54926541, 54926593], [54933872, 54933986], [54935954, 54936026], [54939151, 54939279], [54939500, 54943437]]	[[54912326, 54912620], [54921379, 54921539], [54923050, 54923170], [54925282, 54925426], [54926056, 54926214], [54926541, 54926593], [54933872, 54933986], [54935954, 54936026], [54939151, 54939279], [54939500, 54939627]]
ENST00000572810	[[54911467, 54911621], [54912138, 54913827]]	[[54912156, 54912690]]
ENST00000571084	[[54921379, 54921539], [54923050, 54923663]]	None
ENST00000570738	[[54939546, 54939612], [54940005, 54940650]]	[[54939546, 54939612], [54940005, 54940152]]
NM_003647	[[54911459, 54911621], [54912138, 54912620], [54921379, 54921539], [54923050, 54923170], [54925282, 54925426], [54926056, 54926214], [54926541, 54926593], [54933872, 54933986], [54935954, 54936026], [54939151, 54939279], [54939500, 54939612], [54939972, 54946036]]	[[54912156, 54912620], [54921379, 54921539], [54923050, 54923170], [54925282, 54925426], [54926056, 54926214], [54926541, 54926593], [54933872, 54933986], [54935954, 54936026], [54939151, 54939279], [54939500, 54939612], [54939972, 54940152]]

Promoter

Chrom	Start	End	Description
chr17	54911444	54911564	CAGE_peak_1_at_DGKE_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I056592	56592600	56599054	2.01	[{'connected_gene': 'NOG', 'score': 550.77}, {'connected_gene': 'COIL', 'score': 21.53}, {'connected_gene': 'ENSG00000262298', 'score': 14.05}, {'connected_gene': 'DGKE', 'score': 13.43}, {'connected_gene': 'MSI2', 'score': 10.44}, {'connected_gene': 'GC17M056599', 'score': 0.77}]
chr17	GH17I057420	57420100	57427188	1.39	[{'connected_gene': 'DGKE', 'score': 24.74}, {'connected_gene': 'COIL', 'score': 14.12}, {'connected_gene': 'MKS1', 'score': 13.65}, {'connected_gene': 'SRSF1', 'score': 11.77}, {'connected_gene': 'ENSG00000262298', 'score': 10.15}, {'connected_gene': 'GC17M057411', 'score': 0.39}, {'connected_gene': 'ENSG00000279281', 'score': 0.34}, {'connected_gene': 'MSI2', 'score': 0.1}]
chr17	GH17I057541	57541232	57542812	1.58	[{'connected_gene': 'DGKE', 'score': 11.85}, {'connected_gene': 'SRSF1', 'score': 11.19}, {'connected_gene': 'ENSG00000280028', 'score': 0.39}, {'connected_gene': 'LOC101927539', 'score': 0.2}, {'connected_gene': 'MSI2', 'score': 0.06}]
chr17	GH17I056822	56822280	56823143	0.85	[{'connected_gene': 'DGKE', 'score': 8.27}, {'connected_gene': 'C17orf67', 'score': 6.94}, {'connected_gene': 'PIR41486', 'score': 0.39}, {'connected_gene': 'ENSG00000283209', 'score': 0.37}, {'connected_gene': 'GC17M056820', 'score': 0.26}, {'connected_gene': 'GC17M056657', 'score': 0.23}]
chr17	GH17I056832	56832373	56835649	2.04	[{'connected_gene': 'DGKE', 'score': 568.88}, {'connected_gene': 'C17orf67', 'score': 557.4}, {'connected_gene': 'PIR41486', 'score': 550.77}, {'connected_gene': 'GC17M056820', 'score': 0.29}, {'connected_gene': 'GC17M056657', 'score': 0.26}]
chr17	GH17I056798	56798978	56799169	1.06	[{'connected_gene': 'DGKE', 'score': 1.66}, {'connected_gene': 'GC17M056800', 'score': 0.77}, {'connected_gene': 'GC17M056765', 'score': 0.29}, {'connected_gene': 'C17orf67', 'score': 0.28}, {'connected_gene': 'GC17M056657', 'score': 0.18}]
chr17	GH17I057315	57315552	57317517	0.6	[{'connected_gene': 'DGKE', 'score': 12.91}, {'connected_gene': 'GC17M057316', 'score': 0.34}, {'connected_gene': 'GC17P057280', 'score': 0.28}, {'connected_gene': 'MSI2', 'score': 0.21}]
chr17	GH17I057515	57515984	57520360	1.36	[{'connected_gene': 'DGKE', 'score': 13.66}, {'connected_gene': 'LOC101927557', 'score': 0.44}, {'connected_gene': 'ENSG00000279281', 'score': 0.2}, {'connected_gene': 'MSI2', 'score': 0.07}]
chr17	GH17I057053	57053900	57055049	1.02	[{'connected_gene': 'AKAP1', 'score': 17.37}, {'connected_gene': 'DGKE', 'score': 11.9}, {'connected_gene': 'SRSF1', 'score': 11.17}, {'connected_gene': 'RNF126P1', 'score': 10.47}, {'connected_gene': 'GC17P057057', 'score': 0.44}, {'connected_gene': 'ENSG00000263004', 'score': 0.29}]
chr17	GH17I056911	56911602	56918381	2.66	[{'connected_gene': 'TRIM25', 'score': 575.96}, {'connected_gene': 'ENSG00000274213', 'score': 550.77}, {'connected_gene': 'DGKE', 'score': 23.59}, {'connected_gene': 'ENSG00000262298', 'score': 22.1}, {'connected_gene': 'SCPEP1', 'score': 17.48}]
chr17	GH17I057648	57648675	57651729	1.11	[{'connected_gene': 'SRSF1', 'score': 53.98}, {'connected_gene': 'MKS1', 'score': 46.65}, {'connected_gene': 'ENSG00000262298', 'score': 31.75}, {'connected_gene': 'COIL', 'score': 27.63}, {'connected_gene': 'TSPOAP1', 'score': 13.19}, {'connected_gene': 'DGKE', 'score': 12.93}, {'connected_gene': 'TRIM25', 'score': 11.86}, {'connected_gene': 'RNU7-134P', 'score': 11.47}, {'connected_gene': 'VEZF1', 'score': 9.89}, {'connected_gene': 'GC17P057653', 'score': 0.77}, {'connected_gene': 'GC17P057625', 'score': 0.34}, {'connected_gene': 'MSI2', 'score': 0.05}]
chr17	GH17I057460	57460164	57466909	1.64	[{'connected_gene': 'SRSF1', 'score': 135.83}, {'connected_gene': 'MKS1', 'score': 118.26}, {'connected_gene': 'ENSG00000262298', 'score': 64.86}, {'connected_gene': 'COIL', 'score': 49.2}, {'connected_gene': 'DGKE', 'score': 20.5}, {'connected_gene': 'MSI2', 'score': 10.49}, {'connected_gene': 'VEZF1', 'score': 9.86}, {'connected_gene': 'DYNLL2', 'score': 9.8}, {'connected_gene': 'ENSG00000279281', 'score': 0.37}, {'connected_gene': 'LOC101927557', 'score': 0.21}]
chr17	GH17I056808	56808029	56809493	0.9	[{'connected_gene': 'C17orf67', 'score': 17.12}, {'connected_gene': 'ENSG00000262298', 'score': 13.15}, {'connected_gene': 'DGKE', 'score': 12.67}, {'connected_gene': 'RNU6-1158P', 'score': 10.86}, {'connected_gene': 'ENSG00000283209', 'score': 0.77}, {'connected_gene': 'PIR41486', 'score': 0.31}, {'connected_gene': 'GC17M056657', 'score': 0.2}]
chr17	GH17I056836	56836601	56837200	0.31	[{'connected_gene': 'C17orf67', 'score': 550.77}, {'connected_gene': 'DGKE', 'score': 0.77}, {'connected_gene': 'GC17M056820', 'score': 0.31}, {'connected_gene': 'GC17M056657', 'score': 0.28}]
chr17	GH17I056867	56867338	56868799	0.96	[{'connected_gene': 'PIR52664', 'score': 550.77}, {'connected_gene': 'GC17P056869', 'score': 550.77}, {'connected_gene': 'GC17P056865', 'score': 0.77}, {'connected_gene': 'GC17M056657', 'score': 0.44}, {'connected_gene': 'GC17P056857', 'score': 0.39}, {'connected_gene': 'DGKE', 'score': 0.29}]
chr17	GH17I057084	57084201	57089709	2.51	[{'connected_gene': 'ENSG00000263004', 'score': 576.48}, {'connected_gene': 'AKAP1', 'score': 559.37}, {'connected_gene': 'SRSF1', 'score': 23.18}, {'connected_gene': 'COIL', 'score': 21.6}, {'connected_gene': 'ENSG00000262298', 'score': 12.76}, {'connected_gene': 'DGKE', 'score': 11.89}, {'connected_gene': 'VEZF1', 'score': 10.2}, {'connected_gene': 'SCPEP1', 'score': 10.01}, {'connected_gene': 'ENSG00000263089', 'score': 0.44}]
chr17	GH17I056870	56870500	56870689	0.59	[{'connected_gene': 'GC17P056872', 'score': 550.77}, {'connected_gene': 'RNU6-1158P', 'score': 550.77}, {'connected_gene': 'GC17P056869', 'score': 550.77}, {'connected_gene': 'DGKE', 'score': 9.57}, {'connected_gene': 'GC17M056657', 'score': 0.44}, {'connected_gene': 'GC17P056857', 'score': 0.39}]
chr17	GH17I056871	56869204	56869255	0.2	[{'connected_gene': 'PIR52664', 'score': 550.77}, {'connected_gene': 'GC17P056872', 'score': 550.77}, {'connected_gene': 'RNU6-1158P', 'score': 550.77}, {'connected_gene': 'GC17P056869', 'score': 550.77}, {'connected_gene': 'GC17M056657', 'score': 0.44}, {'connected_gene': 'GC17P056857', 'score': 0.39}, {'connected_gene': 'DGKE', 'score': 0.28}]