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
ENST00000246841	[[63870659, 63871653], [63883690, 63886645]]	[[63883739, 63885764]]
NM_013280	[[63871361, 63871653], [63883690, 63886645]]	[[63883739, 63885764]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I064108	64108150	64110350	0.38	[{'connected_gene': 'TRPT1', 'score': 23.0}, {'connected_gene': 'VEGFB', 'score': 10.48}, {'connected_gene': 'CCDC88B', 'score': 8.43}, {'connected_gene': 'PIR46997', 'score': 0.44}, {'connected_gene': 'ENSG00000256481', 'score': 0.31}, {'connected_gene': 'MACROD1', 'score': 0.22}, {'connected_gene': 'FLRT1', 'score': 0.19}]
chr11	GH11I064104	64104692	64106918	0.38	[{'connected_gene': 'TRPT1', 'score': 21.76}, {'connected_gene': 'CCDC88B', 'score': 4.74}, {'connected_gene': 'ENSG00000256116', 'score': 4.72}, {'connected_gene': 'PIR46997', 'score': 0.39}, {'connected_gene': 'ENSG00000256481', 'score': 0.34}, {'connected_gene': 'MACROD1', 'score': 0.21}, {'connected_gene': 'FLRT1', 'score': 0.2}]
chr11	GH11I064131	64131869	64132390	0.79	[{'connected_gene': 'TRPT1', 'score': 16.87}, {'connected_gene': 'FLRT1', 'score': 11.73}, {'connected_gene': 'MACROD1', 'score': 10.91}, {'connected_gene': 'ENSG00000256481', 'score': 10.89}, {'connected_gene': 'ENSG00000256341', 'score': 0.39}, {'connected_gene': 'GC11M064153', 'score': 0.37}, {'connected_gene': 'PIR54353', 'score': 0.37}]
chr11	GH11I064093	64093372	64095726	1.24	[{'connected_gene': 'PLCB3', 'score': 17.24}, {'connected_gene': 'SF1', 'score': 16.07}, {'connected_gene': 'ENSG00000256341', 'score': 11.89}, {'connected_gene': 'ZFPL1', 'score': 10.37}, {'connected_gene': 'NAALADL1', 'score': 10.36}, {'connected_gene': 'TRPT1', 'score': 9.42}, {'connected_gene': 'VEGFB', 'score': 6.92}, {'connected_gene': 'NRXN2', 'score': 4.55}, {'connected_gene': 'FKBP2', 'score': 4.31}, {'connected_gene': 'ENSG00000256481', 'score': 0.39}, {'connected_gene': 'PIR46997', 'score': 0.34}, {'connected_gene': 'FLRT1', 'score': 0.22}, {'connected_gene': 'ENSG00000256824', 'score': 0.22}, {'connected_gene': 'MACROD1', 'score': 0.19}]
chr11	GH11I064320	64320461	64325778	1.06	[{'connected_gene': 'PLCB3', 'score': 28.32}, {'connected_gene': 'LOC102723878', 'score': 25.84}, {'connected_gene': 'CATSPERZ', 'score': 12.21}, {'connected_gene': 'ENSG00000207024', 'score': 12.19}, {'connected_gene': 'KCNK4-TEX40', 'score': 12.17}, {'connected_gene': 'KCNK4', 'score': 12.17}, {'connected_gene': 'BAD', 'score': 12.15}, {'connected_gene': 'GPR137', 'score': 12.11}, {'connected_gene': 'ENSG00000257086', 'score': 11.39}, {'connected_gene': 'TRMT112', 'score': 10.65}, {'connected_gene': 'ENSG00000231680', 'score': 8.94}, {'connected_gene': 'FLRT1', 'score': 4.27}, {'connected_gene': 'ENSG00000256116', 'score': 4.2}, {'connected_gene': 'PIR36303', 'score': 0.77}, {'connected_gene': 'PRDX5', 'score': 0.44}, {'connected_gene': 'GC11P064331', 'score': 0.44}]
chr11	GH11I064120	64120725	64123803	0.97	[{'connected_gene': 'TRMT112', 'score': 18.96}, {'connected_gene': 'TRPT1', 'score': 15.64}, {'connected_gene': 'FLRT1', 'score': 8.35}, {'connected_gene': 'ENSG00000256341', 'score': 0.77}, {'connected_gene': 'GC11M064153', 'score': 0.31}, {'connected_gene': 'PIR54353', 'score': 0.31}, {'connected_gene': 'MACROD1', 'score': 0.26}]
chr11	GH11I064152	64152722	64154382	0.99	[{'connected_gene': 'TRMT112', 'score': 18.83}, {'connected_gene': 'TRPT1', 'score': 16.1}, {'connected_gene': 'STIP1', 'score': 11.54}, {'connected_gene': 'ENSG00000256341', 'score': 11.13}, {'connected_gene': 'FLRT1', 'score': 11.04}, {'connected_gene': 'ENSG00000256100', 'score': 10.98}, {'connected_gene': 'COX8A', 'score': 10.98}, {'connected_gene': 'RNU6-45P', 'score': 10.97}, {'connected_gene': 'ENSG00000256481', 'score': 10.85}, {'connected_gene': 'FERMT3', 'score': 10.73}, {'connected_gene': 'MARK2', 'score': 10.67}, {'connected_gene': 'ENSG00000256116', 'score': 5.99}, {'connected_gene': 'GC11M064153', 'score': 0.77}, {'connected_gene': 'PIR54353', 'score': 0.77}, {'connected_gene': 'MACROD1', 'score': 0.39}]
chr11	GH11I064097	64097753	64099253	0.79	[{'connected_gene': 'TRMT112', 'score': 14.36}, {'connected_gene': 'VEGFB', 'score': 9.07}, {'connected_gene': 'CCDC88B', 'score': 8.75}, {'connected_gene': 'ENSG00000256481', 'score': 0.37}, {'connected_gene': 'PIR46997', 'score': 0.37}, {'connected_gene': 'FLRT1', 'score': 0.21}, {'connected_gene': 'ENSG00000256824', 'score': 0.21}, {'connected_gene': 'MACROD1', 'score': 0.2}]
chr11	GH11I064237	64237035	64253602	2.32	[{'connected_gene': 'PPP1R14B', 'score': 572.68}, {'connected_gene': 'FKBP2', 'score': 550.77}, {'connected_gene': 'LOC105369340', 'score': 550.77}, {'connected_gene': 'PLCB3', 'score': 550.44}, {'connected_gene': 'TRPT1', 'score': 23.86}, {'connected_gene': 'LOC102723878', 'score': 22.35}, {'connected_gene': 'VEGFB', 'score': 19.71}, {'connected_gene': 'TRMT112', 'score': 17.45}, {'connected_gene': 'FERMT3', 'score': 12.7}, {'connected_gene': 'GPR137', 'score': 11.63}, {'connected_gene': 'BAD', 'score': 11.57}, {'connected_gene': 'ENSG00000257086', 'score': 6.66}, {'connected_gene': 'ENSG00000256116', 'score': 5.79}, {'connected_gene': 'FLRT1', 'score': 5.1}, {'connected_gene': 'PIR60417', 'score': 0.44}]
chr11	GH11I064040	64040365	64042374	0.59	[{'connected_gene': 'PRDX5', 'score': 4.91}, {'connected_gene': 'FLRT1', 'score': 0.44}, {'connected_gene': 'ENSG00000256824', 'score': 0.44}, {'connected_gene': 'PIR44183', 'score': 0.39}, {'connected_gene': 'MACROD1', 'score': 0.13}]
chr11	GH11I064036	64036000	64037109	1.37	[{'connected_gene': 'FLRT1', 'score': 550.77}, {'connected_gene': 'ENSG00000256824', 'score': 550.77}, {'connected_gene': 'VEGFB', 'score': 4.76}, {'connected_gene': 'PIR44183', 'score': 0.37}, {'connected_gene': 'MACROD1', 'score': 0.13}]
chr11	GH11I064074	64074832	64077281	0.46	[{'connected_gene': 'FLRT1', 'score': 11.95}, {'connected_gene': 'ENSG00000256341', 'score': 11.13}, {'connected_gene': 'VEGFB', 'score': 7.14}, {'connected_gene': 'ENSG00000257086', 'score': 6.48}, {'connected_gene': 'ENSG00000256481', 'score': 0.44}, {'connected_gene': 'PIR44183', 'score': 0.34}, {'connected_gene': 'ENSG00000256824', 'score': 0.26}, {'connected_gene': 'MACROD1', 'score': 0.16}]
chr11	GH11I064072	64072289	64072307	0.4	[{'connected_gene': 'FLRT1', 'score': 11.96}, {'connected_gene': 'ENSG00000256341', 'score': 11.11}, {'connected_gene': 'ENSG00000256481', 'score': 0.44}, {'connected_gene': 'PIR44183', 'score': 0.37}, {'connected_gene': 'ENSG00000256824', 'score': 0.28}, {'connected_gene': 'MACROD1', 'score': 0.16}]
chr11	GH11I064103	64103215	64103274	0.7	[{'connected_gene': 'FLRT1', 'score': 550.2}, {'connected_gene': 'PIR46997', 'score': 0.39}, {'connected_gene': 'ENSG00000256481', 'score': 0.34}, {'connected_gene': 'MACROD1', 'score': 0.21}, {'connected_gene': 'ENSG00000256824', 'score': 0.2}]
chr11	GH11I064037	64037705	64038175	0.38	[{'connected_gene': 'FLRT1', 'score': 550.77}, {'connected_gene': 'ENSG00000256824', 'score': 550.77}, {'connected_gene': 'MACROD1', 'score': 4.56}, {'connected_gene': 'PIR44183', 'score': 0.39}]
chr11	GH11I064034	64034043	64035743	0.69	[{'connected_gene': 'FLRT1', 'score': 550.77}, {'connected_gene': 'ENSG00000256824', 'score': 550.77}, {'connected_gene': 'PIR58012', 'score': 0.39}, {'connected_gene': 'MACROD1', 'score': 0.12}]
chr11	GH11I064027	64027601	64029215	1.09	[{'connected_gene': 'FLRT1', 'score': 0.44}, {'connected_gene': 'PIR58012', 'score': 0.44}, {'connected_gene': 'ENSG00000256824', 'score': 0.44}, {'connected_gene': 'MACROD1', 'score': 0.12}]
chr11	GH11I064066	64066541	64069243	0.56	[{'connected_gene': 'FLRT1', 'score': 11.83}, {'connected_gene': 'ENSG00000256341', 'score': 11.03}, {'connected_gene': 'ENSG00000257086', 'score': 5.83}, {'connected_gene': 'ENSG00000256481', 'score': 0.39}, {'connected_gene': 'PIR44183', 'score': 0.37}, {'connected_gene': 'ENSG00000256824', 'score': 0.29}, {'connected_gene': 'MACROD1', 'score': 0.15}]
chr11	GH11I064069	64069817	64071081	0.69	[{'connected_gene': 'FLRT1', 'score': 11.98}, {'connected_gene': 'ENSG00000256341', 'score': 11.11}, {'connected_gene': 'ENSG00000257086', 'score': 6.3}, {'connected_gene': 'ENSG00000256481', 'score': 0.39}, {'connected_gene': 'PIR44183', 'score': 0.37}, {'connected_gene': 'ENSG00000256824', 'score': 0.29}, {'connected_gene': 'MACROD1', 'score': 0.15}]
chr11	GH11I064156	64156709	64156858	0.66	[{'connected_gene': 'STIP1', 'score': 11.56}, {'connected_gene': 'ENSG00000256341', 'score': 11.11}, {'connected_gene': 'FLRT1', 'score': 11.04}, {'connected_gene': 'ENSG00000256100', 'score': 10.97}, {'connected_gene': 'COX8A', 'score': 10.97}, {'connected_gene': 'RNU6-45P', 'score': 10.97}, {'connected_gene': 'ENSG00000256481', 'score': 10.84}, {'connected_gene': 'FERMT3', 'score': 10.74}, {'connected_gene': 'MARK2', 'score': 10.67}, {'connected_gene': 'ENSG00000256116', 'score': 5.83}, {'connected_gene': 'GC11M064153', 'score': 0.44}, {'connected_gene': 'PIR54353', 'score': 0.44}, {'connected_gene': 'MACROD1', 'score': 0.44}]
chr11	GH11I064867	64867579	64873793	1.7	[{'connected_gene': 'EHD1', 'score': 31.48}, {'connected_gene': 'EEF1A1P18', 'score': 5.38}, {'connected_gene': 'CDC42EP2', 'score': 5.23}, {'connected_gene': 'ARL2', 'score': 4.67}, {'connected_gene': 'SNX15', 'score': 4.48}, {'connected_gene': 'FLRT1', 'score': 4.4}, {'connected_gene': 'NEAT1', 'score': 4.27}, {'connected_gene': 'LOC101927789', 'score': 4.27}, {'connected_gene': 'SF1', 'score': 2.54}, {'connected_gene': 'FAU', 'score': 1.84}, {'connected_gene': 'RASGRP2', 'score': 1.79}, {'connected_gene': 'ATG2A', 'score': 1.75}, {'connected_gene': 'RPS16P6', 'score': 0.39}, {'connected_gene': 'CDC42BPG', 'score': 0.31}]
chr11	GH11I064090	64090801	64091800	1.4	[{'connected_gene': 'ENSG00000256341', 'score': 11.77}, {'connected_gene': 'TRPT1', 'score': 9.23}, {'connected_gene': 'LOC102723878', 'score': 5.02}, {'connected_gene': 'FKBP2', 'score': 4.29}, {'connected_gene': 'ENSG00000256481', 'score': 0.44}, {'connected_gene': 'PIR46997', 'score': 0.31}, {'connected_gene': 'FLRT1', 'score': 0.22}, {'connected_gene': 'ENSG00000256824', 'score': 0.22}, {'connected_gene': 'MACROD1', 'score': 0.19}]
chr11	GH11I064088	64088489	64088658	0.63	[{'connected_gene': 'ENSG00000256341', 'score': 11.75}, {'connected_gene': 'VEGFB', 'score': 4.78}, {'connected_gene': 'ENSG00000256481', 'score': 0.44}, {'connected_gene': 'PIR46997', 'score': 0.31}, {'connected_gene': 'FLRT1', 'score': 0.23}, {'connected_gene': 'ENSG00000256824', 'score': 0.23}, {'connected_gene': 'MACROD1', 'score': 0.18}]
chr11	GH11I064085	64085349	64085598	0.82	[{'connected_gene': 'ENSG00000256341', 'score': 11.75}, {'connected_gene': 'PLCB3', 'score': 4.8}, {'connected_gene': 'ENSG00000256481', 'score': 0.77}, {'connected_gene': 'PIR46997', 'score': 0.29}, {'connected_gene': 'FLRT1', 'score': 0.25}, {'connected_gene': 'ENSG00000256824', 'score': 0.25}, {'connected_gene': 'MACROD1', 'score': 0.18}]
chr11	GH11I064083	64083064	64085206	0.54	[{'connected_gene': 'ENSG00000256341', 'score': 11.73}, {'connected_gene': 'PLCB3', 'score': 8.9}, {'connected_gene': 'ENSG00000256481', 'score': 0.77}, {'connected_gene': 'PIR46997', 'score': 0.29}, {'connected_gene': 'FLRT1', 'score': 0.25}, {'connected_gene': 'ENSG00000256824', 'score': 0.25}, {'connected_gene': 'MACROD1', 'score': 0.18}]
chr11	GH11I064115	64115185	64116399	0.2	[{'connected_gene': 'PIR46997', 'score': 550.77}, {'connected_gene': 'CCDC88B', 'score': 8.52}, {'connected_gene': 'FLRT1', 'score': 8.37}, {'connected_gene': 'ENSG00000256481', 'score': 0.29}, {'connected_gene': 'MACROD1', 'score': 0.23}]
chr11	GH11I064061	64061209	64061358	0.77	[{'connected_gene': 'PIR44183', 'score': 0.44}, {'connected_gene': 'ENSG00000256481', 'score': 0.34}, {'connected_gene': 'FLRT1', 'score': 0.31}, {'connected_gene': 'ENSG00000256824', 'score': 0.31}, {'connected_gene': 'MACROD1', 'score': 0.15}]
chr11	GH11I064022	64021949	64022098	0.31	[{'connected_gene': 'PIR58012', 'score': 550.77}, {'connected_gene': 'ENSG00000256481', 'score': 10.88}, {'connected_gene': 'FLRT1', 'score': 0.39}, {'connected_gene': 'ENSG00000256824', 'score': 0.39}, {'connected_gene': 'MACROD1', 'score': 0.11}]
chr11	GH11I064078	64078329	64078518	0.63	[{'connected_gene': 'ENSG00000256481', 'score': 0.77}, {'connected_gene': 'PIR44183', 'score': 0.31}, {'connected_gene': 'FLRT1', 'score': 0.26}, {'connected_gene': 'ENSG00000256824', 'score': 0.26}, {'connected_gene': 'MACROD1', 'score': 0.17}]
chr11	GH11I064062	64062882	64064950	0.38	[{'connected_gene': 'ENSG00000257086', 'score': 4.91}, {'connected_gene': 'PIR44183', 'score': 0.39}, {'connected_gene': 'ENSG00000256481', 'score': 0.37}, {'connected_gene': 'FLRT1', 'score': 0.31}, {'connected_gene': 'ENSG00000256824', 'score': 0.31}, {'connected_gene': 'MACROD1', 'score': 0.15}]
chr11	GH11I064086	64086455	64086878	0.76	[{'connected_gene': 'ENSG00000256341', 'score': 11.75}, {'connected_gene': 'ENSG00000256481', 'score': 0.77}, {'connected_gene': 'PIR46997', 'score': 0.29}, {'connected_gene': 'FLRT1', 'score': 0.23}, {'connected_gene': 'ENSG00000256824', 'score': 0.23}, {'connected_gene': 'MACROD1', 'score': 0.18}]
chr11	GH11I064044	64044646	64045779	0.83	[{'connected_gene': 'ENSG00000256341', 'score': 11.06}, {'connected_gene': 'SPINDOC', 'score': 10.55}, {'connected_gene': 'PIR44183', 'score': 0.44}, {'connected_gene': 'FLRT1', 'score': 0.44}, {'connected_gene': 'ENSG00000256824', 'score': 0.44}, {'connected_gene': 'MACROD1', 'score': 0.13}]
chr11	GH11I064058	64058094	64059124	0.63	[{'connected_gene': 'PIR44183', 'score': 0.44}, {'connected_gene': 'FLRT1', 'score': 0.34}, {'connected_gene': 'ENSG00000256481', 'score': 0.34}, {'connected_gene': 'ENSG00000256824', 'score': 0.34}, {'connected_gene': 'MACROD1', 'score': 0.14}]
chr11	GH11I064056	64056013	64057144	0.77	[{'connected_gene': 'PIR44183', 'score': 0.77}, {'connected_gene': 'FLRT1', 'score': 0.34}, {'connected_gene': 'ENSG00000256824', 'score': 0.34}, {'connected_gene': 'ENSG00000256481', 'score': 0.31}, {'connected_gene': 'MACROD1', 'score': 0.14}]
chr11	GH11I064024	64024509	64025978	0.77	[{'connected_gene': 'PIR58012', 'score': 0.77}, {'connected_gene': 'FLRT1', 'score': 0.39}, {'connected_gene': 'ENSG00000256824', 'score': 0.39}, {'connected_gene': 'MACROD1', 'score': 0.11}]
chr11	GH11I064060	64060829	64060978	0.82	[{'connected_gene': 'PIR44183', 'score': 0.44}, {'connected_gene': 'FLRT1', 'score': 0.34}, {'connected_gene': 'ENSG00000256481', 'score': 0.34}, {'connected_gene': 'ENSG00000256824', 'score': 0.34}, {'connected_gene': 'MACROD1', 'score': 0.14}]
chr11	GH11I064051	64051503	64052016	0.2	[{'connected_gene': 'PIR44183', 'score': 550.77}, {'connected_gene': 'ENSG00000256341', 'score': 11.07}, {'connected_gene': 'SPINDOC', 'score': 10.55}, {'connected_gene': 'FLRT1', 'score': 0.37}, {'connected_gene': 'ENSG00000256824', 'score': 0.37}, {'connected_gene': 'MACROD1', 'score': 0.14}]
chr11	GH11I064063	64061000	64061201	1.14	[{'connected_gene': 'PIR44183', 'score': 0.44}, {'connected_gene': 'ENSG00000256481', 'score': 0.34}, {'connected_gene': 'FLRT1', 'score': 0.31}, {'connected_gene': 'ENSG00000256824', 'score': 0.31}, {'connected_gene': 'MACROD1', 'score': 0.14}]
chr11	GH11I064053	64053809	64053958	0.66	[{'connected_gene': 'PIR44183', 'score': 550.77}, {'connected_gene': 'FLRT1', 'score': 0.37}, {'connected_gene': 'ENSG00000256824', 'score': 0.37}, {'connected_gene': 'ENSG00000256481', 'score': 0.31}, {'connected_gene': 'MACROD1', 'score': 0.14}]
chr11	GH11I064047	64047484	64048856	0.97	[{'connected_gene': 'ENSG00000256341', 'score': 11.06}, {'connected_gene': 'SPINDOC', 'score': 10.55}, {'connected_gene': 'PIR44183', 'score': 0.77}, {'connected_gene': 'FLRT1', 'score': 0.39}, {'connected_gene': 'ENSG00000256824', 'score': 0.39}, {'connected_gene': 'MACROD1', 'score': 0.13}]
chr11	GH11I064081	64081909	64082058	0.76	[{'connected_gene': 'ENSG00000256481', 'score': 550.77}, {'connected_gene': 'PIR46997', 'score': 0.29}, {'connected_gene': 'FLRT1', 'score': 0.25}, {'connected_gene': 'ENSG00000256824', 'score': 0.25}, {'connected_gene': 'MACROD1', 'score': 0.18}]