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
ENST00000487096	[[54649713, 54649973], [54670690, 54670874], [54670967, 54671083], [54675618, 54675805]]	None
ENST00000360840	[[54665839, 54666262], [54670690, 54670874], [54670967, 54671083], [54675618, 54675804], [54678173, 54678331], [54681813, 54682017], [54683844, 54684051]]	[[54665916, 54666262], [54670690, 54670874], [54670967, 54671083], [54675618, 54675804], [54678173, 54678331], [54681813, 54682017], [54683844, 54683922]]
ENST00000605337	[[54665868, 54666262], [54670690, 54670874], [54670967, 54671083], [54675618, 54675804], [54678173, 54678331], [54681813, 54682017], [54690797, 54691137]]	[[54665916, 54666262], [54670690, 54670874], [54670967, 54671083], [54675618, 54675804], [54678173, 54678331], [54681813, 54682017], [54690797, 54691055]]
ENST00000490670	[[54665876, 54665914], [54670690, 54670874], [54670967, 54671083], [54673032, 54673177], [54675618, 54675804]]	None
ENST00000336230	[[54665891, 54666262], [54675620, 54675804], [54678173, 54678331], [54681813, 54682017], [54683844, 54684049]]	[[54666007, 54666262], [54675620, 54675804], [54678173, 54678331], [54681813, 54682017], [54683844, 54683922]]
ENST00000398219	[[54675618, 54675804], [54678173, 54678331], [54681813, 54682017], [54686283, 54686603]]	[[54675618, 54675804], [54678173, 54678331], [54681813, 54682017], [54686283, 54686529]]
NM_016491	[[54665839, 54666262], [54670690, 54670874], [54670967, 54671083], [54675618, 54675804], [54678173, 54678331], [54681813, 54682017], [54683844, 54684056]]	[[54665916, 54666262], [54670690, 54670874], [54670967, 54671083], [54675618, 54675804], [54678173, 54678331], [54681813, 54682017], [54683844, 54683922]]
NM_001330602	[[54665839, 54666262], [54670690, 54670874], [54670967, 54671083], [54675618, 54675804], [54678173, 54678331], [54681813, 54682017], [54690797, 54691162]]	[[54665916, 54666262], [54670690, 54670874], [54670967, 54671083], [54675618, 54675804], [54678173, 54678331], [54681813, 54682017], [54690797, 54691055]]

Promoter

Chrom	Start	End	Description
chr1	54665832	54665877	CAGE_peak_1_at_MRPL37_5end
chr1	54665916	54665927	CAGE_peak_2_at_MRPL37_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I043051	43051727	43055143	2.1	[{'connected_gene': 'CUL7', 'score': 590.2}, {'connected_gene': 'GTPBP2', 'score': 38.87}, {'connected_gene': 'POLH', 'score': 35.19}, {'connected_gene': 'RPS2P29', 'score': 32.87}, {'connected_gene': 'ZNF318', 'score': 26.59}, {'connected_gene': 'BICRAL', 'score': 26.37}, {'connected_gene': 'ABCC10', 'score': 25.7}, {'connected_gene': 'UBR2', 'score': 24.24}, {'connected_gene': 'RRP36', 'score': 23.82}, {'connected_gene': 'POLR1C', 'score': 14.65}, {'connected_gene': 'RPL34P14', 'score': 11.49}, {'connected_gene': 'CUL9', 'score': 11.04}, {'connected_gene': 'PTK7', 'score': 10.59}, {'connected_gene': 'DNPH1', 'score': 9.98}, {'connected_gene': 'ENSG00000271754', 'score': 9.79}, {'connected_gene': 'ENSG00000272223', 'score': 5.38}, {'connected_gene': 'MRPL2', 'score': 0.44}, {'connected_gene': 'KLC4', 'score': 0.39}]
chr6	GH06I043069	43069643	43070601	0.88	[{'connected_gene': 'CUL7', 'score': 6.96}, {'connected_gene': 'ENSG00000272170', 'score': 0.77}, {'connected_gene': 'MRPL2', 'score': 0.44}, {'connected_gene': 'KLC4', 'score': 0.31}]
chr1	GH01I054198	54198820	54201714	2.03	[{'connected_gene': 'CYB5RL', 'score': 563.93}, {'connected_gene': 'ENSG00000256407', 'score': 550.77}, {'connected_gene': 'MRPL37', 'score': 550.37}, {'connected_gene': 'MAGOH', 'score': 33.72}, {'connected_gene': 'NDC1', 'score': 13.04}, {'connected_gene': 'LRRC42', 'score': 10.06}, {'connected_gene': 'PIR51493', 'score': 0.37}]
chr1	GH01I054195	54195657	54195716	0.61	[{'connected_gene': 'CYB5RL', 'score': 550.77}, {'connected_gene': 'ENSG00000256407', 'score': 0.77}, {'connected_gene': 'MRPL37', 'score': 0.39}]
chr1	GH01I054240	54240601	54241200	0.51	[{'connected_gene': 'MRPL37', 'score': 10.69}, {'connected_gene': 'TMEM59', 'score': 10.3}, {'connected_gene': 'TCEANC2', 'score': 10.3}, {'connected_gene': 'SSBP3', 'score': 9.74}, {'connected_gene': 'SSBP3-AS1', 'score': 0.77}, {'connected_gene': 'GC01P054263', 'score': 0.34}]
chr1	GH01I054244	54244419	54246124	0.38	[{'connected_gene': 'MRPL37', 'score': 10.68}, {'connected_gene': 'TMEM59', 'score': 10.3}, {'connected_gene': 'TCEANC2', 'score': 10.3}, {'connected_gene': 'SSBP3', 'score': 10.18}, {'connected_gene': 'SSBP3-AS1', 'score': 0.44}, {'connected_gene': 'GC01P054263', 'score': 0.37}]
chr6	GH06I043058	43058362	43062107	2.27	[{'connected_gene': 'MRPL2', 'score': 550.77}, {'connected_gene': 'KLC4', 'score': 550.37}, {'connected_gene': 'RRP36', 'score': 12.97}, {'connected_gene': 'POLH', 'score': 10.96}, {'connected_gene': 'GTPBP2', 'score': 10.58}, {'connected_gene': 'DNPH1', 'score': 10.01}, {'connected_gene': 'ENSG00000272223', 'score': 5.28}, {'connected_gene': 'ENSG00000272170', 'score': 0.39}]
chr1	GH01I054228	54228659	54230238	1.31	[{'connected_gene': 'MRPL37', 'score': 12.23}, {'connected_gene': 'GC01P054226', 'score': 0.77}, {'connected_gene': 'SSBP3-AS1', 'score': 0.44}, {'connected_gene': 'SSBP3', 'score': 0.09}]
chr6	GH06I043266	43266901	43280003	1.76	[{'connected_gene': 'ZNF318', 'score': 44.68}, {'connected_gene': 'POLH', 'score': 39.18}, {'connected_gene': 'POLR1C', 'score': 31.42}, {'connected_gene': 'GTPBP2', 'score': 30.6}, {'connected_gene': 'ABCC10', 'score': 28.97}, {'connected_gene': 'RPS2P29', 'score': 24.67}, {'connected_gene': 'CUL7', 'score': 19.48}, {'connected_gene': 'XPO5', 'score': 19.45}, {'connected_gene': 'UBR2', 'score': 16.08}, {'connected_gene': 'KLC4', 'score': 13.77}, {'connected_gene': 'BICRAL', 'score': 12.86}, {'connected_gene': 'DNPH1', 'score': 12.73}, {'connected_gene': 'CUL9', 'score': 12.72}, {'connected_gene': 'RRP36', 'score': 12.68}, {'connected_gene': 'ENSG00000271970', 'score': 11.15}, {'connected_gene': 'ENSG00000272223', 'score': 10.53}, {'connected_gene': 'SLC35B2', 'score': 10.37}, {'connected_gene': 'TJAP1', 'score': 9.85}, {'connected_gene': 'MRPL2', 'score': 5.42}, {'connected_gene': 'PEX6', 'score': 5.19}, {'connected_gene': 'SLC22A7', 'score': 2.5}, {'connected_gene': 'GNMT', 'score': 2.19}, {'connected_gene': 'CRIP3', 'score': 2.07}, {'connected_gene': 'LOC105375064', 'score': 0.39}, {'connected_gene': 'TTBK1', 'score': 0.31}]
chr6	GH06I043246	43246300	43248072	1.53	[{'connected_gene': 'ZNF318', 'score': 21.35}, {'connected_gene': 'ENSG00000271970', 'score': 13.32}, {'connected_gene': 'CUL9', 'score': 12.77}, {'connected_gene': 'POLR1C', 'score': 12.65}, {'connected_gene': 'POLH', 'score': 12.37}, {'connected_gene': 'RPS2P29', 'score': 12.05}, {'connected_gene': 'TJAP1', 'score': 11.38}, {'connected_gene': 'XPO5', 'score': 11.18}, {'connected_gene': 'MRPL2', 'score': 5.48}, {'connected_gene': 'DNPH1', 'score': 4.8}, {'connected_gene': 'TTBK1', 'score': 0.77}, {'connected_gene': 'LOC105375064', 'score': 0.28}]
chr1	GH01I054238	54238264	54239380	0.63	[{'connected_gene': 'SSBP3', 'score': 10.01}, {'connected_gene': 'ENSG00000237453', 'score': 5.09}, {'connected_gene': 'MRPL37', 'score': 5.05}, {'connected_gene': 'TMEM59', 'score': 4.58}, {'connected_gene': 'SSBP3-AS1', 'score': 0.77}, {'connected_gene': 'GC01P054263', 'score': 0.34}]
chr1	GH01I054248	54248358	54251297	1.33	[{'connected_gene': 'SSBP3', 'score': 10.6}, {'connected_gene': 'MRPL37', 'score': 5.52}, {'connected_gene': 'SSBP3-AS1', 'score': 0.39}, {'connected_gene': 'GC01P054263', 'score': 0.39}]
chr6	GH06I042819	42819588	42822463	1.16	[{'connected_gene': 'BICRAL', 'score': 550.19}, {'connected_gene': 'RPL7L1', 'score': 11.18}, {'connected_gene': 'RNU6-890P', 'score': 10.96}, {'connected_gene': 'KLC4', 'score': 10.78}, {'connected_gene': 'MRPL2', 'score': 10.76}, {'connected_gene': 'PPP2R5D', 'score': 9.85}, {'connected_gene': 'KLHDC3', 'score': 9.83}, {'connected_gene': 'MEA1', 'score': 9.83}, {'connected_gene': 'LOC401261', 'score': 0.28}]
chr1	GH01I054153	54153426	54154336	0.9	[{'connected_gene': 'CDCP2', 'score': 550.77}, {'connected_gene': 'MRPL37', 'score': 0.29}, {'connected_gene': 'ENSG00000256407', 'score': 0.25}]
chr1	GH01I054167	54167619	54168428	0.38	[{'connected_gene': 'CDCP2', 'score': 0.39}, {'connected_gene': 'MRPL37', 'score': 0.37}, {'connected_gene': 'ENSG00000256407', 'score': 0.29}]
chr1	GH01I054093	54093833	54097379	0.87	[{'connected_gene': 'TCEANC2', 'score': 46.19}, {'connected_gene': 'LDLRAD1', 'score': 14.75}, {'connected_gene': 'TMEM59', 'score': 11.27}, {'connected_gene': 'CDCP2', 'score': 11.1}, {'connected_gene': 'SSBP3-AS1', 'score': 10.13}, {'connected_gene': 'MRPL37', 'score': 4.77}, {'connected_gene': 'ENSG00000279049', 'score': 0.77}, {'connected_gene': 'GC01P054090', 'score': 0.44}]
chr1	GH01I054172	54172681	54173294	0.49	[{'connected_gene': 'ENSG00000225632', 'score': 10.24}, {'connected_gene': 'SSBP3-AS1', 'score': 10.22}, {'connected_gene': 'TMEM59', 'score': 9.44}, {'connected_gene': 'TCEANC2', 'score': 9.44}, {'connected_gene': 'MRPL37', 'score': 0.39}, {'connected_gene': 'CDCP2', 'score': 0.37}, {'connected_gene': 'ENSG00000256407', 'score': 0.31}, {'connected_gene': 'CYB5RL', 'score': 0.31}]
chr1	GH01I054262	54262354	54264258	0.49	[{'connected_gene': 'GC01P054263', 'score': 550.77}, {'connected_gene': 'SSBP3-AS1', 'score': 16.43}, {'connected_gene': 'SSBP3', 'score': 13.24}, {'connected_gene': 'ENSG00000225632', 'score': 12.45}, {'connected_gene': 'TCEANC2', 'score': 10.0}, {'connected_gene': 'TMEM59', 'score': 10.0}, {'connected_gene': 'CDCP2', 'score': 9.93}, {'connected_gene': 'TTC22', 'score': 9.67}, {'connected_gene': 'ENSG00000237453', 'score': 9.67}, {'connected_gene': 'MRPL37', 'score': 5.06}]
chr1	GH01I054227	54227000	54228292	1.15	[{'connected_gene': 'GC01P054226', 'score': 550.77}, {'connected_gene': 'MRPL37', 'score': 10.77}, {'connected_gene': 'SSBP3-AS1', 'score': 0.44}, {'connected_gene': 'SSBP3', 'score': 0.09}]
chr1	GH01I054229	54228531	54228657	0.4	[{'connected_gene': 'GC01P054226', 'score': 550.77}, {'connected_gene': 'MRPL37', 'score': 10.03}, {'connected_gene': 'SSBP3-AS1', 'score': 9.48}, {'connected_gene': 'SSBP3', 'score': 0.09}]
chr1	GH01I054218	54218585	54221685	1.14	[{'connected_gene': 'PIR40840', 'score': 550.77}, {'connected_gene': 'MRPL37', 'score': 11.11}, {'connected_gene': 'CDCP2', 'score': 10.33}, {'connected_gene': 'SSBP3-AS1', 'score': 8.16}, {'connected_gene': 'PIR51493', 'score': 0.77}]