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
ENST00000550735	[[112279781, 112280573], [112303053, 112303127], [112303959, 112304035], [112305375, 112305473], [112306556, 112306665], [112308074, 112308164], [112308888, 112308984], [112318250, 112318331], [112321384, 112321572], [112323719, 112323840], [112326291, 112326422], [112326688, 112326804], [112327843, 112327948], [112330770, 112331220]]	[[112280537, 112280573], [112303053, 112303127], [112303959, 112304035], [112305375, 112305473], [112306556, 112306665], [112308074, 112308164], [112308888, 112308984], [112318250, 112318331], [112321384, 112321572], [112323719, 112323840], [112326291, 112326422], [112326688, 112326804], [112327843, 112327948], [112330770, 112330865]]
ENST00000551404	[[112280429, 112280573], [112303053, 112303127], [112303959, 112304035], [112305375, 112305473], [112306556, 112306665], [112308074, 112308164], [112308888, 112308984], [112318250, 112318331], [112321384, 112321572], [112323719, 112323840], [112326291, 112326422], [112326688, 112326810], [112327843, 112327948], [112330770, 112330965]]	[[112280537, 112280573], [112303053, 112303127], [112303959, 112304035], [112305375, 112305473], [112306556, 112306665], [112308074, 112308164], [112308888, 112308984], [112318250, 112318331], [112321384, 112321572], [112323719, 112323840], [112326291, 112326422], [112326688, 112326810], [112327843, 112327948], [112330770, 112330865]]
ENST00000549875	[[112280537, 112280573], [112308888, 112308984], [112318250, 112318331], [112321384, 112321572], [112323719, 112323840], [112326291, 112326422], [112326688, 112326810], [112327843, 112327948], [112330770, 112330864]]	[[112280537, 112280573], [112308888, 112308984], [112318250, 112318331], [112321384, 112321572], [112323719, 112323840], [112326291, 112326422], [112326688, 112326810], [112327843, 112327948], [112330770, 112330864]]
ENST00000547067	[[112325381, 112326422], [112326688, 112326810], [112327843, 112327948], [112330770, 112330961]]	None
ENST00000547915	[[112327036, 112327948], [112330770, 112330826], [112331317, 112331389], [112334023, 112334343]]	None
ENST00000547305	[[112280278, 112280573], [112280906, 112281016], [112281111, 112281200]]	[[112280537, 112280573], [112280906, 112281016], [112281111, 112281121]]
ENST00000553053	[[112280286, 112280573], [112308888, 112308984], [112318250, 112318331], [112320593, 112320657], [112321384, 112321572], [112323719, 112323840], [112326291, 112326329]]	[[112280537, 112280573], [112308888, 112308984], [112318250, 112318331], [112320593, 112320605]]
ENST00000546394	[[112280291, 112280573], [112303053, 112303127], [112303959, 112304035], [112305375, 112305473], [112308074, 112308111]]	None
ENST00000602983	[[112280835, 112281227]]	None
ENST00000552111	[[112323241, 112323840], [112326291, 112326422], [112326688, 112326810], [112327843, 112327945]]	None
NM_003668	[[112280031, 112280573], [112303053, 112303127], [112303959, 112304035], [112305375, 112305473], [112306556, 112306665], [112308074, 112308164], [112308888, 112308984], [112318250, 112318331], [112321384, 112321572], [112323719, 112323840], [112326291, 112326422], [112326688, 112326804], [112327843, 112327948], [112330770, 112331228]]	[[112280537, 112280573], [112303053, 112303127], [112303959, 112304035], [112305375, 112305473], [112306556, 112306665], [112308074, 112308164], [112308888, 112308984], [112318250, 112318331], [112321384, 112321572], [112323719, 112323840], [112326291, 112326422], [112326688, 112326804], [112327843, 112327948], [112330770, 112330865]]
NM_139078	[[112280031, 112280573], [112303053, 112303127], [112303959, 112304035], [112305375, 112305473], [112306556, 112306665], [112308074, 112308164], [112308888, 112308984], [112318250, 112318331], [112321384, 112321572], [112323719, 112323840], [112326291, 112326422], [112326688, 112326810], [112327843, 112327948], [112330770, 112331228]]	[[112280537, 112280573], [112303053, 112303127], [112303959, 112304035], [112305375, 112305473], [112306556, 112306665], [112308074, 112308164], [112308888, 112308984], [112318250, 112318331], [112321384, 112321572], [112323719, 112323840], [112326291, 112326422], [112326688, 112326810], [112327843, 112327948], [112330770, 112330865]]

Promoter

Chrom	Start	End	Description
chr12	112279818	112279871	CAGE_peak_2_at_MAPKAPK5_5end
chr12	112279979	112280006	CAGE_peak_3_at_MAPKAPK5_5end
chr12	112280009	112280052	CAGE_peak_1_at_MAPKAPK5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I111904	111904374	111905405	0.38	[{'connected_gene': 'TMEM116', 'score': 12.46}, {'connected_gene': 'MAPKAPK5', 'score': 12.1}, {'connected_gene': 'MAPKAPK5-AS1', 'score': 12.1}, {'connected_gene': 'PIR61051', 'score': 0.77}, {'connected_gene': 'GC12P111923', 'score': 0.37}]
chr12	GH12I111846	111846265	111847081	0.82	[{'connected_gene': 'TMEM116', 'score': 12.42}, {'connected_gene': 'MAPKAPK5', 'score': 0.77}, {'connected_gene': 'GC12P111844', 'score': 0.77}, {'connected_gene': 'GC12M111865', 'score': 0.34}]
chr12	GH12I112011	112011401	112015726	2.33	[{'connected_gene': 'TMEM116', 'score': 577.97}, {'connected_gene': 'ERP29', 'score': 550.77}, {'connected_gene': 'RPL6', 'score': 20.27}, {'connected_gene': 'HSPA8P14', 'score': 19.78}, {'connected_gene': 'MAPKAPK5', 'score': 14.65}, {'connected_gene': 'HECTD4', 'score': 12.1}, {'connected_gene': 'ADAM1A', 'score': 11.52}, {'connected_gene': 'NAA25', 'score': 11.04}, {'connected_gene': 'TRAFD1', 'score': 10.07}, {'connected_gene': 'RPS2P41', 'score': 9.87}, {'connected_gene': 'GC12P112008', 'score': 0.77}, {'connected_gene': 'ENSG00000274227', 'score': 0.44}]
chr12	GH12I111995	111995937	111999534	0.67	[{'connected_gene': 'ADAM1A', 'score': 28.38}, {'connected_gene': 'TMEM116', 'score': 27.56}, {'connected_gene': 'PCNPP1', 'score': 16.61}, {'connected_gene': 'ATXN2', 'score': 15.32}, {'connected_gene': 'ALDH2', 'score': 11.95}, {'connected_gene': 'HECTD4', 'score': 10.2}, {'connected_gene': 'MAPKAPK5', 'score': 10.18}, {'connected_gene': 'LOC724085', 'score': 0.77}, {'connected_gene': 'GC12P111993', 'score': 0.77}, {'connected_gene': 'GC12M112001', 'score': 0.77}]
chr12	GH12I111055	111055754	111058628	1.9	[{'connected_gene': 'ADAM1A', 'score': 24.24}, {'connected_gene': 'ATXN2', 'score': 14.12}, {'connected_gene': 'CUX2', 'score': 13.8}, {'connected_gene': 'MAPKAPK5', 'score': 12.01}, {'connected_gene': 'BRAP', 'score': 11.69}, {'connected_gene': 'ATXN2-AS', 'score': 11.68}, {'connected_gene': 'PCNPP1', 'score': 10.64}, {'connected_gene': 'IFT81', 'score': 10.23}, {'connected_gene': 'MYL2', 'score': 9.81}, {'connected_gene': 'LINC01405', 'score': 8.8}, {'connected_gene': 'PPTC7', 'score': 5.74}, {'connected_gene': 'SH2B3', 'score': 2.45}, {'connected_gene': 'GC12M111175', 'score': 0.13}]
chr12	GH12I112165	112165609	112171813	0.65	[{'connected_gene': 'ADAM1A', 'score': 20.11}, {'connected_gene': 'TRAFD1', 'score': 10.89}, {'connected_gene': 'MAPKAPK5', 'score': 10.85}, {'connected_gene': 'HSPA8P14', 'score': 10.22}, {'connected_gene': 'TMEM116', 'score': 5.22}, {'connected_gene': 'MIR6861', 'score': 0.44}, {'connected_gene': 'GC12P112212', 'score': 0.26}, {'connected_gene': 'HECTD4', 'score': 0.08}]
chr12	GH12I111331	111331277	111331426	0.6	[{'connected_gene': 'MAPKAPK5', 'score': 16.23}, {'connected_gene': 'NAA25', 'score': 13.25}, {'connected_gene': 'FAM109A', 'score': 4.2}, {'connected_gene': 'RNA5SP373', 'score': 0.44}, {'connected_gene': 'LOC105369983', 'score': 0.39}, {'connected_gene': 'GC12M111219', 'score': 0.28}, {'connected_gene': 'CUX2', 'score': 0.06}]
chr12	GH12I111748	111748157	111749399	0.58	[{'connected_gene': 'MAPKAPK5', 'score': 10.97}, {'connected_gene': 'MAPKAPK5-AS1', 'score': 10.97}, {'connected_gene': 'GC12M111745', 'score': 0.77}, {'connected_gene': 'ENSG00000257767', 'score': 0.44}, {'connected_gene': 'GC12M111747', 'score': 0.39}, {'connected_gene': 'ACAD10', 'score': 0.21}]
chr12	GH12I111903	111903904	111904247	0.27	[{'connected_gene': 'MAPKAPK5', 'score': 13.88}, {'connected_gene': 'MAPKAPK5-AS1', 'score': 12.1}, {'connected_gene': 'ATXN2', 'score': 3.12}, {'connected_gene': 'NAA25', 'score': 1.97}, {'connected_gene': 'HECTD4', 'score': 1.54}, {'connected_gene': 'BRAP', 'score': 1.52}, {'connected_gene': 'TMEM116', 'score': 1.36}, {'connected_gene': 'PIR61051', 'score': 0.77}, {'connected_gene': 'GC12P111923', 'score': 0.37}]
chr12	GH12I110887	110887401	110888746	1.08	[{'connected_gene': 'PCNPP1', 'score': 16.59}, {'connected_gene': 'IFT81', 'score': 11.13}, {'connected_gene': 'MAPKAPK5', 'score': 10.1}, {'connected_gene': 'ANAPC7', 'score': 9.79}, {'connected_gene': 'GC12P110917', 'score': 0.31}, {'connected_gene': 'CCDC63', 'score': 0.26}]
chr12	GH12I111596	111596298	111601275	2.3	[{'connected_gene': 'ATXN2', 'score': 561.32}, {'connected_gene': 'ATXN2-AS', 'score': 550.77}, {'connected_gene': 'SH2B3', 'score': 12.28}, {'connected_gene': 'MAPKAPK5', 'score': 12.06}, {'connected_gene': 'ALDH2', 'score': 9.02}, {'connected_gene': 'TMEM116', 'score': 4.13}, {'connected_gene': 'LOC100101246', 'score': 0.37}]
chr12	GH12I112407	112407240	112410226	2.28	[{'connected_gene': 'RPL6', 'score': 572.02}, {'connected_gene': 'ADAM1A', 'score': 30.79}, {'connected_gene': 'MAPKAPK5', 'score': 25.9}, {'connected_gene': 'SLC8B1', 'score': 20.09}, {'connected_gene': 'NAA25', 'score': 13.64}, {'connected_gene': 'RPS2P41', 'score': 9.78}, {'connected_gene': 'TMEM116', 'score': 5.17}, {'connected_gene': 'PTPN11', 'score': 0.44}, {'connected_gene': 'GC12M112409', 'score': 0.39}, {'connected_gene': 'HECTD4', 'score': 0.31}]
chr12	GH12I111840	111840225	111843947	2.1	[{'connected_gene': 'MAPKAPK5-AS1', 'score': 550.77}, {'connected_gene': 'MAPKAPK5', 'score': 550.77}, {'connected_gene': 'GC12P111844', 'score': 550.77}, {'connected_gene': 'HECTD4', 'score': 22.14}, {'connected_gene': 'ATXN2', 'score': 16.43}, {'connected_gene': 'ALDH2', 'score': 13.85}, {'connected_gene': 'TRAFD1', 'score': 12.92}, {'connected_gene': 'TMEM116', 'score': 12.41}, {'connected_gene': 'RPL6', 'score': 11.86}, {'connected_gene': 'ADAM1A', 'score': 11.61}, {'connected_gene': 'HSPA8P14', 'score': 10.55}, {'connected_gene': 'RPS2P41', 'score': 10.03}, {'connected_gene': 'GC12P111836', 'score': 0.44}]
chr12	GH12I110928	110928721	110932412	1.35	[{'connected_gene': 'IFT81', 'score': 20.47}, {'connected_gene': 'LINC01405', 'score': 15.66}, {'connected_gene': 'MAPKAPK5', 'score': 13.31}, {'connected_gene': 'C12orf76', 'score': 13.17}, {'connected_gene': 'RPS2P41', 'score': 10.05}, {'connected_gene': 'ATXN2', 'score': 10.03}, {'connected_gene': 'PPP1CC', 'score': 9.99}, {'connected_gene': 'MYL2', 'score': 0.44}, {'connected_gene': 'GC12P110917', 'score': 0.39}]
chr12	GH12I112124	112124662	112132060	2.45	[{'connected_gene': 'TRAFD1', 'score': 550.77}, {'connected_gene': 'TMEM116', 'score': 37.45}, {'connected_gene': 'MAPKAPK5', 'score': 15.99}, {'connected_gene': 'BRAP', 'score': 14.97}, {'connected_gene': 'ADAM1A', 'score': 11.4}, {'connected_gene': 'NAA25', 'score': 10.7}, {'connected_gene': 'ERP29', 'score': 10.66}, {'connected_gene': 'GC12P112151', 'score': 0.34}]
chr12	GH12I111424	111424214	111447914	2.2	[{'connected_gene': 'SH2B3', 'score': 581.21}, {'connected_gene': 'PIR45326', 'score': 550.77}, {'connected_gene': 'ADAM1A', 'score': 35.68}, {'connected_gene': 'PCNPP1', 'score': 16.63}, {'connected_gene': 'ATXN2', 'score': 15.37}, {'connected_gene': 'FAM109A', 'score': 11.34}, {'connected_gene': 'HECTD4', 'score': 10.17}, {'connected_gene': 'MAPKAPK5', 'score': 10.12}, {'connected_gene': 'ALDH2', 'score': 9.84}, {'connected_gene': 'TMEM116', 'score': 6.05}, {'connected_gene': 'BRAP', 'score': 1.54}, {'connected_gene': 'LOC105369985', 'score': 0.77}, {'connected_gene': 'PIR59500', 'score': 0.44}, {'connected_gene': 'PIR41006', 'score': 0.44}, {'connected_gene': 'PIR44345', 'score': 0.44}, {'connected_gene': 'PIR61304', 'score': 0.39}, {'connected_gene': 'GC12P111448', 'score': 0.39}, {'connected_gene': 'PIR45448', 'score': 0.39}]
chr12	GH12I111866	111866936	111869637	0.69	[{'connected_gene': 'GC12M111865', 'score': 550.77}, {'connected_gene': 'TMEM116', 'score': 13.19}, {'connected_gene': 'MAPKAPK5', 'score': 12.6}, {'connected_gene': 'MAPKAPK5-AS1', 'score': 12.6}, {'connected_gene': 'GC12M111872', 'score': 0.44}]
chr12	GH12I111753	111753317	111753486	1	[{'connected_gene': 'ENSG00000257767', 'score': 550.77}, {'connected_gene': 'ALDH2', 'score': 14.23}, {'connected_gene': 'MAPKAPK5', 'score': 10.98}, {'connected_gene': 'MAPKAPK5-AS1', 'score': 10.98}, {'connected_gene': 'GC12M111747', 'score': 0.44}, {'connected_gene': 'GC12M111745', 'score': 0.44}, {'connected_gene': 'ACAD10', 'score': 0.2}]