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
ENST00000367504	[[185087219, 185089403], [185089514, 185089641], [185092988, 185093051], [185094075, 185094242], [185097800, 185097879], [185106573, 185106638], [185106737, 185106928], [185108498, 185108711], [185109104, 185109354], [185112488, 185112568], [185113037, 185113161], [185114570, 185114700], [185116313, 185116378], [185119510, 185119624], [185120956, 185121067], [185125609, 185126116]]	[[185097816, 185097879], [185106573, 185106638], [185106737, 185106928], [185108498, 185108711], [185109104, 185109354], [185112488, 185112568], [185113037, 185113161], [185114570, 185114700], [185116313, 185116370]]
ENST00000367506	[[185087229, 185089403], [185089514, 185089641], [185092988, 185093051], [185094075, 185094242], [185097800, 185097879], [185106737, 185106928], [185108498, 185108711], [185109104, 185109354], [185112488, 185112568], [185113037, 185113161], [185114570, 185114700], [185116313, 185116378], [185119510, 185119624], [185120956, 185121067], [185125609, 185126113]]	[[185089150, 185089403], [185089514, 185089641], [185092988, 185093051], [185094075, 185094242], [185097800, 185097879], [185106737, 185106928], [185108498, 185108711], [185109104, 185109354], [185112488, 185112568], [185113037, 185113161], [185114570, 185114700], [185116313, 185116378], [185119510, 185119624], [185120956, 185121067], [185125609, 185125844]]
ENST00000465827	[[185089184, 185089403], [185089514, 185090001]]	None
ENST00000458395	[[185093971, 185094242], [185097800, 185097879], [185106737, 185106928], [185108498, 185108692]]	[[185094067, 185094242], [185097800, 185097879], [185106737, 185106928], [185108498, 185108692]]
ENST00000487028	[[185113051, 185113161], [185114570, 185114700], [185116313, 185116378], [185119510, 185119624], [185120956, 185121067], [185126115, 185126204]]	None
NM_030934	[[185087216, 185089403], [185089514, 185089641], [185092988, 185093051], [185094075, 185094242], [185097800, 185097879], [185106737, 185106928], [185108498, 185108711], [185109104, 185109354], [185112488, 185112568], [185113037, 185113161], [185114570, 185114700], [185116313, 185116378], [185119510, 185119624], [185120956, 185121067], [185125609, 185126116]]	[[185089150, 185089403], [185089514, 185089641], [185092988, 185093051], [185094075, 185094242], [185097800, 185097879], [185106737, 185106928], [185108498, 185108711], [185109104, 185109354], [185112488, 185112568], [185113037, 185113161], [185114570, 185114700], [185116313, 185116378], [185119510, 185119624], [185120956, 185121067], [185125609, 185125844]]
NM_001202423	[[185087216, 185089403], [185089514, 185089641], [185092988, 185093051], [185094075, 185094242], [185097800, 185097879], [185106737, 185106928], [185108498, 185108711], [185109104, 185109354], [185112488, 185112568], [185113037, 185113161], [185114570, 185114700], [185116313, 185116378], [185119510, 185119624], [185120956, 185121067], [185126115, 185126230]]	[[185089150, 185089403], [185089514, 185089641], [185092988, 185093051], [185094075, 185094242], [185097800, 185097879], [185106737, 185106928], [185108498, 185108711], [185109104, 185109354], [185112488, 185112568], [185113037, 185113161], [185114570, 185114700], [185116313, 185116370]]

Promoter

Chrom	Start	End	Description
chr1	185125839	185125873	CAGE_peak_2_at_TRMT1L_5end
chr1	185125953	185125969	CAGE_peak_5_at_TRMT1L_5end
chr1	185126037	185126120	CAGE_peak_1_at_TRMT1L_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I185154	185154705	185158525	2.51	[{'connected_gene': 'TRMT1L', 'score': 556.71}, {'connected_gene': 'SWT1', 'score': 553.1}, {'connected_gene': 'RNF2', 'score': 10.12}, {'connected_gene': 'FTH1P25', 'score': 0.18}]
chr1	GH01I185058	185058201	185059000	0.31	[{'connected_gene': 'TRMT1L', 'score': 10.82}, {'connected_gene': 'SWT1', 'score': 10.82}, {'connected_gene': 'FAM129A', 'score': 9.86}, {'connected_gene': 'RNF2', 'score': 0.39}, {'connected_gene': 'FTH1P25', 'score': 0.39}]
chr1	GH01I184983	184982229	184982398	0.88	[{'connected_gene': 'TRMT1L', 'score': 10.74}, {'connected_gene': 'SWT1', 'score': 10.74}, {'connected_gene': 'ENSG00000233583', 'score': 6.29}, {'connected_gene': 'FAM129A', 'score': 0.44}, {'connected_gene': 'LINC01633', 'score': 0.37}]
chr1	GH01I184982	184982001	184982201	0.88	[{'connected_gene': 'TRMT1L', 'score': 10.74}, {'connected_gene': 'SWT1', 'score': 10.74}, {'connected_gene': 'FAM129A', 'score': 9.23}, {'connected_gene': 'LINC01633', 'score': 0.37}]
chr1	GH01I185104	185104069	185104218	0.2	[{'connected_gene': 'TRMT1L', 'score': 10.4}, {'connected_gene': 'SWT1', 'score': 10.4}, {'connected_gene': 'FAM129A', 'score': 9.52}, {'connected_gene': 'FTH1P25', 'score': 0.29}]
chr1	GH01I185306	185306459	185306685	0.4	[{'connected_gene': 'TRMT1L', 'score': 10.76}, {'connected_gene': 'SWT1', 'score': 10.76}, {'connected_gene': 'ENSG00000279838', 'score': 0.39}, {'connected_gene': 'IVNS1ABP', 'score': 0.39}]
chr1	GH01I185291	185291601	185292200	0.56	[{'connected_gene': 'TRMT1L', 'score': 10.72}, {'connected_gene': 'SWT1', 'score': 10.72}, {'connected_gene': 'LOC100422414', 'score': 5.83}, {'connected_gene': 'ENSG00000279838', 'score': 0.77}, {'connected_gene': 'LOC105371651', 'score': 0.44}]
chr1	GH01I185158	185158801	185159000	0.82	[{'connected_gene': 'TRMT1L', 'score': 550.77}, {'connected_gene': 'SWT1', 'score': 550.77}, {'connected_gene': 'ENSG00000271387', 'score': 10.71}, {'connected_gene': 'GC01P185170', 'score': 0.39}]
chr1	GH01I185073	185073926	185075098	0.31	[{'connected_gene': 'RNF2', 'score': 11.74}, {'connected_gene': 'TRMT1L', 'score': 10.67}, {'connected_gene': 'SWT1', 'score': 10.67}, {'connected_gene': 'FAM129A', 'score': 9.41}, {'connected_gene': 'FTH1P25', 'score': 0.77}]
chr1	GH01I185018	185018677	185019037	0.22	[{'connected_gene': 'RNF2', 'score': 11.32}, {'connected_gene': 'FAM129A', 'score': 10.82}, {'connected_gene': 'TRMT1L', 'score': 10.21}, {'connected_gene': 'SWT1', 'score': 10.21}, {'connected_gene': 'GC01M185014', 'score': 0.77}, {'connected_gene': 'RNA5SP72', 'score': 0.77}, {'connected_gene': 'GC01P185027', 'score': 0.44}]
chr1	GH01I185043	185043632	185047001	1.99	[{'connected_gene': 'RNF2', 'score': 550.77}, {'connected_gene': 'FAM129A', 'score': 10.32}, {'connected_gene': 'TRMT1L', 'score': 5.8}, {'connected_gene': 'GC01P185027', 'score': 0.37}]
chr1	GH01I185140	185140677	185141005	0.31	[{'connected_gene': 'RNF2', 'score': 6.42}, {'connected_gene': 'IVNS1ABP', 'score': 1.44}, {'connected_gene': 'TRMT1L', 'score': 0.37}, {'connected_gene': 'SWT1', 'score': 0.37}, {'connected_gene': 'FTH1P25', 'score': 0.2}]
chr1	GH01I185038	185038814	185040900	0.62	[{'connected_gene': 'FAM129A', 'score': 10.34}, {'connected_gene': 'TRMT1L', 'score': 5.83}, {'connected_gene': 'RNF2', 'score': 0.44}, {'connected_gene': 'GC01P185027', 'score': 0.39}]
chr1	GH01I184843	184843475	184844881	0.84	[{'connected_gene': 'FAM129A', 'score': 15.89}, {'connected_gene': 'TRMT1L', 'score': 9.95}, {'connected_gene': 'SWT1', 'score': 9.95}, {'connected_gene': 'EDEM3', 'score': 5.41}, {'connected_gene': 'GC01P184860', 'score': 0.37}, {'connected_gene': 'RNU7-13P', 'score': 0.34}]
chr1	GH01I184810	184810708	184812063	0.4	[{'connected_gene': 'FAM129A', 'score': 16.02}, {'connected_gene': 'TRMT1L', 'score': 9.77}, {'connected_gene': 'SWT1', 'score': 9.77}, {'connected_gene': 'RNF2', 'score': 9.43}, {'connected_gene': 'EDEM3', 'score': 6.1}, {'connected_gene': 'GC01M184821', 'score': 0.39}, {'connected_gene': 'GC01P184758', 'score': 0.23}]
chr1	GH01I184805	184805547	184806768	1.31	[{'connected_gene': 'FAM129A', 'score': 12.75}, {'connected_gene': 'TRMT1L', 'score': 10.31}, {'connected_gene': 'SWT1', 'score': 10.31}, {'connected_gene': 'GC01M184821', 'score': 0.37}, {'connected_gene': 'GC01P184758', 'score': 0.25}]
chr1	GH01I184804	184804294	184804669	0.51	[{'connected_gene': 'FAM129A', 'score': 15.32}, {'connected_gene': 'SWT1', 'score': 13.25}, {'connected_gene': 'TRMT1L', 'score': 10.31}, {'connected_gene': 'EDEM3', 'score': 1.63}, {'connected_gene': 'RNF2', 'score': 1.28}, {'connected_gene': 'GC01M184821', 'score': 0.37}, {'connected_gene': 'GC01P184758', 'score': 0.25}]
chr1	GH01I184960	184960778	184961012	0.34	[{'connected_gene': 'FAM129A', 'score': 5.13}, {'connected_gene': 'IVNS1ABP', 'score': 3.22}, {'connected_gene': 'TRMT1L', 'score': 1.3}, {'connected_gene': 'SWT1', 'score': 1.27}, {'connected_gene': 'GC01P184916', 'score': 0.26}]
chr1	GH01I185420	185420070	185421535	1.05	[{'connected_gene': 'FAM129A', 'score': 29.11}, {'connected_gene': 'IVNS1ABP', 'score': 27.95}, {'connected_gene': 'SWT1', 'score': 3.87}, {'connected_gene': 'TRMT1L', 'score': 1.71}, {'connected_gene': 'RNF2', 'score': 1.39}, {'connected_gene': 'RNU7-183P', 'score': 0.39}, {'connected_gene': 'LOC102724897', 'score': 0.23}]
chr1	GH01I184866	184866184	184868670	1.5	[{'connected_gene': 'FAM129A', 'score': 32.74}, {'connected_gene': 'IVNS1ABP', 'score': 9.7}, {'connected_gene': 'SWT1', 'score': 2.58}, {'connected_gene': 'EDEM3', 'score': 2.15}, {'connected_gene': 'TRMT1L', 'score': 1.48}, {'connected_gene': 'GC01P184860', 'score': 0.44}, {'connected_gene': 'GC01P184916', 'score': 0.25}]
chr1	GH01I185672	185672802	185674942	1.05	[{'connected_gene': 'IVNS1ABP', 'score': 11.35}, {'connected_gene': 'TRMT1L', 'score': 9.8}, {'connected_gene': 'SWT1', 'score': 9.8}, {'connected_gene': 'GS1-204I12.4', 'score': 0.31}, {'connected_gene': 'GC01P185628', 'score': 0.25}, {'connected_gene': 'HMCN1', 'score': 0.21}]
chr1	GH01I185680	185680402	185681000	0.49	[{'connected_gene': 'IVNS1ABP', 'score': 11.28}, {'connected_gene': 'TRMT1L', 'score': 10.9}, {'connected_gene': 'SWT1', 'score': 10.9}, {'connected_gene': 'GS1-204I12.4', 'score': 0.29}, {'connected_gene': 'HMCN1', 'score': 0.23}, {'connected_gene': 'GC01P185628', 'score': 0.23}]
chr1	GH01I185374	185374659	185377759	1.19	[{'connected_gene': 'IVNS1ABP', 'score': 35.59}, {'connected_gene': 'EDEM3', 'score': 12.85}, {'connected_gene': 'TPR', 'score': 12.62}, {'connected_gene': 'RNU7-183P', 'score': 11.36}, {'connected_gene': 'ODR4', 'score': 11.3}, {'connected_gene': 'FAM129A', 'score': 11.28}, {'connected_gene': 'SWT1', 'score': 8.84}, {'connected_gene': 'LOC100422414', 'score': 5.45}, {'connected_gene': 'RNF2', 'score': 5.12}, {'connected_gene': 'TRMT1L', 'score': 1.21}, {'connected_gene': 'LOC102724897', 'score': 0.44}]
chr1	GH01I185329	185329210	185329487	0.31	[{'connected_gene': 'IVNS1ABP', 'score': 20.53}, {'connected_gene': 'FAM129A', 'score': 20.19}, {'connected_gene': 'SWT1', 'score': 4.19}, {'connected_gene': 'TRMT1L', 'score': 1.51}, {'connected_gene': 'RNF2', 'score': 1.26}, {'connected_gene': 'GS1-279B7.1', 'score': 0.44}, {'connected_gene': 'ENSG00000273004', 'score': 0.39}]
chr1	GH01I185292	185292400	185293200	0.54	[{'connected_gene': 'ENSG00000279838', 'score': 550.77}, {'connected_gene': 'TRMT1L', 'score': 10.72}, {'connected_gene': 'SWT1', 'score': 10.72}, {'connected_gene': 'LOC100422414', 'score': 6.64}, {'connected_gene': 'LOC105371651', 'score': 0.44}]
chr1	GH01I185015	185015100	185018319	1.24	[{'connected_gene': 'GC01M185014', 'score': 550.77}, {'connected_gene': 'RNA5SP72', 'score': 550.77}, {'connected_gene': 'SWT1', 'score': 17.27}, {'connected_gene': 'RNF2', 'score': 16.39}, {'connected_gene': 'TRMT1L', 'score': 15.93}, {'connected_gene': 'FAM129A', 'score': 15.02}, {'connected_gene': 'IVNS1ABP', 'score': 3.33}, {'connected_gene': 'EDEM3', 'score': 1.47}, {'connected_gene': 'GC01P185027', 'score': 0.39}]
chr1	GH01I185170	185170202	185170740	1.08	[{'connected_gene': 'GC01P185170', 'score': 550.77}, {'connected_gene': 'RPL22P24', 'score': 550.77}, {'connected_gene': 'RNF2', 'score': 10.85}, {'connected_gene': 'FAM129A', 'score': 9.97}, {'connected_gene': 'IVNS1ABP', 'score': 9.93}, {'connected_gene': 'TRMT1L', 'score': 6.44}, {'connected_gene': 'SWT1', 'score': 0.39}]