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
ENST00000544997	[[63974149, 63974286], [63974825, 63974996], [63978082, 63978316], [63978523, 63978643], [63978746, 63978915], [63979116, 63979219], [63986722, 63986794]]	[[63974836, 63974996], [63978082, 63978316], [63978523, 63978643], [63978746, 63978915], [63979116, 63979219], [63986722, 63986794]]
ENST00000279227	[[63974205, 63974286], [63974822, 63974996], [63978082, 63978316], [63978523, 63978643], [63978746, 63978915], [63979116, 63979219], [63986722, 63986830], [63986995, 63987130], [63987211, 63987261], [63987350, 63987487], [63987691, 63987798], [63987907, 63988141], [63988487, 63988612], [63990519, 63990661], [63990784, 63991354]]	[[63974836, 63974996], [63978082, 63978316], [63978523, 63978643], [63978746, 63978915], [63979116, 63979219], [63986722, 63986830], [63986995, 63987130], [63987211, 63987261], [63987350, 63987487], [63987691, 63987798], [63987907, 63988141], [63988487, 63988612], [63990519, 63990661], [63990784, 63990964]]
ENST00000345728	[[63974205, 63974286], [63974822, 63974996], [63978082, 63978316], [63978523, 63978643], [63978746, 63978915], [63979116, 63979219], [63986722, 63986830], [63986995, 63987130], [63987211, 63987261], [63987362, 63987487], [63987691, 63987798], [63987907, 63988141], [63988487, 63988612], [63990519, 63990661], [63990784, 63991354]]	[[63974836, 63974996], [63978082, 63978316], [63978523, 63978643], [63978746, 63978915], [63979116, 63979219], [63986722, 63986830], [63986995, 63987130], [63987211, 63987261], [63987362, 63987487], [63987691, 63987798], [63987907, 63988141], [63988487, 63988612], [63990519, 63990661], [63990784, 63990964]]
ENST00000541252	[[63975288, 63975378], [63978082, 63978316], [63978523, 63978643], [63978746, 63978915], [63979116, 63979217]]	[[63978772, 63978915], [63979116, 63979217]]
ENST00000541326	[[63979121, 63979219], [63986722, 63986830], [63986995, 63987130], [63987216, 63987261], [63987362, 63987487], [63987691, 63988070]]	None
ENST00000546255	[[63979175, 63979219], [63986722, 63986830], [63986995, 63987130], [63987211, 63987488]]	None
ENST00000540957	[[63986948, 63987130], [63987211, 63987261], [63987362, 63987487], [63987691, 63987922]]	None
ENST00000545896	[[63987908, 63988141], [63990519, 63990661], [63990784, 63991320]]	[[63987908, 63988141], [63990519, 63990661], [63990784, 63990964]]
ENST00000540554	[[63988306, 63988612], [63990519, 63990592]]	None
NM_031471	[[63974151, 63974286], [63974822, 63974996], [63978082, 63978316], [63978523, 63978643], [63978746, 63978915], [63979116, 63979219], [63986722, 63986830], [63986995, 63987130], [63987211, 63987261], [63987362, 63987487], [63987691, 63987798], [63987907, 63988141], [63988487, 63988612], [63990519, 63990661], [63990784, 63991363]]	[[63974836, 63974996], [63978082, 63978316], [63978523, 63978643], [63978746, 63978915], [63979116, 63979219], [63986722, 63986830], [63986995, 63987130], [63987211, 63987261], [63987362, 63987487], [63987691, 63987798], [63987907, 63988141], [63988487, 63988612], [63990519, 63990661], [63990784, 63990964]]
NM_178443	[[63974151, 63974286], [63974822, 63974996], [63978082, 63978316], [63978523, 63978643], [63978746, 63978915], [63979116, 63979219], [63986722, 63986830], [63986995, 63987130], [63987211, 63987261], [63987350, 63987487], [63987691, 63987798], [63987907, 63988141], [63988487, 63988612], [63990519, 63990661], [63990784, 63991363]]	[[63974836, 63974996], [63978082, 63978316], [63978523, 63978643], [63978746, 63978915], [63979116, 63979219], [63986722, 63986830], [63986995, 63987130], [63987211, 63987261], [63987350, 63987487], [63987691, 63987798], [63987907, 63988141], [63988487, 63988612], [63990519, 63990661], [63990784, 63990964]]

Promoter

Chrom	Start	End	Description
chr11	63974135	63974214	CAGE_peak_1_at_FERMT3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I064223	64223380	64223847	0.46	[{'connected_gene': 'TRPT1', 'score': 23.33}, {'connected_gene': 'ENSG00000256116', 'score': 5.78}, {'connected_gene': 'NUDT22', 'score': 0.77}, {'connected_gene': 'FERMT3', 'score': 0.37}]
chr11	GH11I064204	64204109	64205258	0.93	[{'connected_gene': 'FERMT3', 'score': 550.77}, {'connected_gene': 'TRPT1', 'score': 27.84}, {'connected_gene': 'NUDT22', 'score': 12.24}, {'connected_gene': 'DNAJC4', 'score': 12.21}, {'connected_gene': 'ENSG00000257086', 'score': 11.67}, {'connected_gene': 'PLCB3', 'score': 11.66}, {'connected_gene': 'MACROD1', 'score': 11.44}, {'connected_gene': 'GPR137', 'score': 11.34}, {'connected_gene': 'BAD', 'score': 11.31}, {'connected_gene': 'GC11M064182', 'score': 0.37}, {'connected_gene': 'STIP1', 'score': 0.37}]
chr11	GH11I064205	64205396	64209794	2.19	[{'connected_gene': 'FERMT3', 'score': 550.77}, {'connected_gene': 'TRPT1', 'score': 25.79}, {'connected_gene': 'ZFPL1', 'score': 25.16}, {'connected_gene': 'PLCB3', 'score': 22.46}, {'connected_gene': 'SF1', 'score': 21.61}, {'connected_gene': 'TRMT112', 'score': 12.31}, {'connected_gene': 'ENSG00000257086', 'score': 11.65}, {'connected_gene': 'GPR137', 'score': 11.57}, {'connected_gene': 'BAD', 'score': 11.55}, {'connected_gene': 'KCNK4-TEX40', 'score': 11.54}, {'connected_gene': 'KCNK4', 'score': 11.54}, {'connected_gene': 'ENSG00000207024', 'score': 11.53}, {'connected_gene': 'CATSPERZ', 'score': 11.52}, {'connected_gene': 'ESRRA', 'score': 11.52}, {'connected_gene': 'FAU', 'score': 10.3}, {'connected_gene': 'SYVN1', 'score': 9.66}, {'connected_gene': 'CCDC88B', 'score': 8.56}, {'connected_gene': 'ENSG00000256116', 'score': 5.75}, {'connected_gene': 'NUDT22', 'score': 0.37}]
chr11	GH11I064282	64282937	64286697	2.22	[{'connected_gene': 'BAD', 'score': 550.77}, {'connected_gene': 'GPR137', 'score': 550.37}, {'connected_gene': 'LOC102723878', 'score': 24.8}, {'connected_gene': 'SF1', 'score': 21.65}, {'connected_gene': 'TRMT112', 'score': 21.15}, {'connected_gene': 'POLA2', 'score': 19.77}, {'connected_gene': 'ZFPL1', 'score': 14.52}, {'connected_gene': 'ZNHIT2', 'score': 11.22}, {'connected_gene': 'PLCB3', 'score': 11.1}, {'connected_gene': 'ENSG00000257086', 'score': 10.96}, {'connected_gene': 'FAU', 'score': 10.31}, {'connected_gene': 'DNAJC4', 'score': 9.87}, {'connected_gene': 'NRXN2', 'score': 6.6}, {'connected_gene': 'FERMT3', 'score': 5.36}, {'connected_gene': 'KCNK4', 'score': 0.44}]
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	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	GH11I064215	64215169	64215258	0.49	[{'connected_gene': 'FKBP2', 'score': 12.56}, {'connected_gene': 'LOC105369340', 'score': 12.55}, {'connected_gene': 'ENSG00000257086', 'score': 12.55}, {'connected_gene': 'PPP1R14B', 'score': 12.55}, {'connected_gene': 'PLCB3', 'score': 12.53}, {'connected_gene': 'GPR137', 'score': 11.59}, {'connected_gene': 'BAD', 'score': 11.56}, {'connected_gene': 'MACROD1', 'score': 10.78}, {'connected_gene': 'FERMT3', 'score': 0.44}, {'connected_gene': 'NUDT22', 'score': 0.39}]
chr11	GH11I063837	63837309	63843823	2.44	[{'connected_gene': 'MARK2', 'score': 556.33}, {'connected_gene': 'SF1', 'score': 20.23}, {'connected_gene': 'SNHG1', 'score': 17.0}, {'connected_gene': 'NAA40', 'score': 12.18}, {'connected_gene': 'RNU6-1306P', 'score': 12.03}, {'connected_gene': 'PLCB3', 'score': 11.12}, {'connected_gene': 'CCND2P1', 'score': 5.01}, {'connected_gene': 'COX8A', 'score': 4.78}, {'connected_gene': 'FERMT3', 'score': 3.57}, {'connected_gene': 'RTN3', 'score': 1.83}, {'connected_gene': 'LGALS12', 'score': 1.32}, {'connected_gene': 'GC11M063862', 'score': 0.34}]
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	GH11I064189	64189601	64190000	0.31	[{'connected_gene': 'LOC102723878', 'score': 6.83}, {'connected_gene': 'GC11M064182', 'score': 0.77}, {'connected_gene': 'STIP1', 'score': 0.77}, {'connected_gene': 'FERMT3', 'score': 0.37}]
chr11	GH11I064447	64447683	64450200	1.34	[{'connected_gene': 'LOC100996455', 'score': 550.77}, {'connected_gene': 'NRXN2', 'score': 11.8}, {'connected_gene': 'SLC22A12', 'score': 11.13}, {'connected_gene': 'FERMT3', 'score': 5.6}, {'connected_gene': 'TRMT112', 'score': 5.08}, {'connected_gene': 'EHD1', 'score': 4.87}, {'connected_gene': 'CCDC88B', 'score': 2.69}, {'connected_gene': 'OTUB1', 'score': 1.53}, {'connected_gene': 'RASGRP2', 'score': 1.37}, {'connected_gene': 'SF1', 'score': 1.31}, {'connected_gene': 'GC11P064445', 'score': 0.77}]
chr11	GH11I064180	64180515	64182599	1.15	[{'connected_gene': 'PIR62169', 'score': 550.77}, {'connected_gene': 'PIR58555', 'score': 550.77}, {'connected_gene': 'TRPT1', 'score': 33.91}, {'connected_gene': 'FERMT3', 'score': 11.83}, {'connected_gene': 'ENSG00000257086', 'score': 10.84}, {'connected_gene': 'PLCB3', 'score': 10.84}, {'connected_gene': 'ENSG00000256341', 'score': 10.34}, {'connected_gene': 'NAA40', 'score': 9.75}, {'connected_gene': 'CCDC88B', 'score': 8.55}, {'connected_gene': 'STIP1', 'score': 0.77}]
chr11	GH11I064183	64183481	64187865	2.33	[{'connected_gene': 'GC11M064182', 'score': 550.77}, {'connected_gene': 'STIP1', 'score': 550.77}, {'connected_gene': 'TRPT1', 'score': 24.67}, {'connected_gene': 'ENSG00000257086', 'score': 21.53}, {'connected_gene': 'IMMP1LP1', 'score': 13.74}, {'connected_gene': 'FERMT3', 'score': 13.36}, {'connected_gene': 'SF1', 'score': 11.49}, {'connected_gene': 'C11orf95', 'score': 11.35}, {'connected_gene': 'ZNHIT2', 'score': 11.22}, {'connected_gene': 'PLCB3', 'score': 10.84}, {'connected_gene': 'ENSG00000256341', 'score': 10.34}, {'connected_gene': 'DNAJC4', 'score': 9.9}, {'connected_gene': 'NAA40', 'score': 9.75}, {'connected_gene': 'ZFPL1', 'score': 9.73}, {'connected_gene': 'VEGFB', 'score': 7.97}, {'connected_gene': 'ENSG00000256116', 'score': 5.65}, {'connected_gene': 'OTUB1', 'score': 2.03}, {'connected_gene': 'CCDC88B', 'score': 1.86}]