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
ENST00000556036	[[45605142, 45605742], [45606271, 45606444], [45609834, 45609912], [45618039, 45618198], [45620599, 45620731], [45623122, 45623255], [45623899, 45624025], [45624575, 45624662], [45628298, 45628483], [45633561, 45633768], [45636152, 45636626]]	[[45605234, 45605742], [45606271, 45606444], [45609834, 45609912], [45618039, 45618198], [45620599, 45620731], [45623122, 45623255], [45623899, 45624025], [45624575, 45624662], [45628298, 45628483], [45633561, 45633768], [45636152, 45636374]]
ENST00000267430	[[45605149, 45605742], [45606271, 45606444], [45609834, 45609912], [45618039, 45618198], [45620599, 45620731], [45623122, 45623255], [45623899, 45624025], [45624575, 45624662], [45628298, 45628483], [45633561, 45633768], [45636152, 45636366], [45639791, 45639949], [45642257, 45642413], [45644273, 45646179], [45650632, 45650727], [45650839, 45650908], [45652976, 45653105], [45654419, 45654576], [45656983, 45657090], [45658004, 45658565], [45665374, 45665750], [45667846, 45668138], [45669072, 45670090]]	[[45605234, 45605742], [45606271, 45606444], [45609834, 45609912], [45618039, 45618198], [45620599, 45620731], [45623122, 45623255], [45623899, 45624025], [45624575, 45624662], [45628298, 45628483], [45633561, 45633768], [45636152, 45636366], [45639791, 45639949], [45642257, 45642413], [45644273, 45646179], [45650632, 45650727], [45650839, 45650908], [45652976, 45653105], [45654419, 45654576], [45656983, 45657090], [45658004, 45658565], [45665374, 45665750], [45667846, 45668138], [45669072, 45669211]]
ENST00000542564	[[45605156, 45605742], [45606271, 45606444], [45618039, 45618198], [45620599, 45620731], [45623122, 45623255], [45623899, 45624025], [45624575, 45624662], [45628298, 45628483], [45633561, 45633768], [45636152, 45636366], [45639791, 45639949], [45642257, 45642413], [45644273, 45646179], [45650632, 45650727], [45650839, 45650908], [45652976, 45653105], [45654419, 45654576], [45656983, 45657090], [45658004, 45658565], [45665374, 45665750], [45667846, 45668138], [45669072, 45669231]]	[[45605234, 45605742], [45606271, 45606444], [45618039, 45618198], [45620599, 45620731], [45623122, 45623255], [45623899, 45624025], [45624575, 45624662], [45628298, 45628483], [45633561, 45633768], [45636152, 45636366], [45639791, 45639949], [45642257, 45642413], [45644273, 45646179], [45650632, 45650727], [45650839, 45650908], [45652976, 45653105], [45654419, 45654576], [45656983, 45657090], [45658004, 45658565], [45665374, 45665750], [45667846, 45668138], [45669072, 45669211]]
ENST00000554030	[[45605716, 45605742], [45606271, 45607162]]	None
ENST00000556250	[[45623961, 45624025], [45624575, 45624662], [45628298, 45628483], [45636152, 45636366], [45639791, 45639949], [45642257, 45642413], [45644273, 45646179], [45650632, 45650727], [45650839, 45650908], [45652976, 45653105], [45654419, 45654576], [45656983, 45657090], [45658004, 45658565], [45665374, 45665750], [45667846, 45668138], [45669072, 45670093]]	[[45623961, 45624025], [45624575, 45624662], [45628298, 45628483], [45636152, 45636366], [45639791, 45639949], [45642257, 45642413], [45644273, 45646179], [45650632, 45650727], [45650839, 45650908], [45652976, 45653105], [45654419, 45654576], [45656983, 45657090], [45658004, 45658565], [45665374, 45665750], [45667846, 45668138], [45669072, 45669211]]
ENST00000554809	[[45645160, 45646179], [45650632, 45650727], [45650839, 45650908], [45652976, 45653105], [45654419, 45654576], [45656983, 45657090], [45658004, 45658565], [45664683, 45664788], [45665374, 45665750], [45667846, 45668138], [45669072, 45669274]]	[[45645160, 45646179], [45650632, 45650727], [45650839, 45650908], [45652976, 45653105], [45654419, 45654576], [45656983, 45657090], [45658004, 45658565], [45664683, 45664788], [45665374, 45665750], [45667846, 45668138], [45669072, 45669211]]
ENST00000555013	[[45650037, 45650092], [45650632, 45650727], [45650839, 45650908], [45652976, 45653105], [45654419, 45654576], [45656983, 45657051]]	None
ENST00000557110	[[45665374, 45665750], [45667934, 45668138], [45669072, 45669130]]	[[45665374, 45665750], [45667934, 45667966]]
ENST00000555484	[[45665656, 45665750], [45667846, 45668038], [45669072, 45669234]]	[[45665656, 45665750], [45667846, 45668038], [45669072, 45669107]]
ENST00000553551	[[45667637, 45668138], [45669072, 45669174]]	None
NM_001308134	[[45605141, 45605742], [45606271, 45606444], [45609834, 45609912], [45618039, 45618198], [45620599, 45620731], [45623122, 45623255], [45623899, 45624025], [45624575, 45624662], [45628298, 45628483], [45633561, 45633768], [45636152, 45636395]]	[[45605234, 45605742], [45606271, 45606444], [45609834, 45609912], [45618039, 45618198], [45620599, 45620731], [45623122, 45623255], [45623899, 45624025], [45624575, 45624662], [45628298, 45628483], [45633561, 45633768], [45636152, 45636374]]
NM_001308133	[[45605141, 45605742], [45606271, 45606444], [45618039, 45618198], [45620599, 45620731], [45623122, 45623255], [45623899, 45624025], [45624575, 45624662], [45628298, 45628483], [45633561, 45633768], [45636152, 45636366], [45639791, 45639949], [45642257, 45642413], [45644273, 45646179], [45650632, 45650727], [45650839, 45650908], [45652976, 45653105], [45654419, 45654576], [45656983, 45657090], [45658004, 45658565], [45665374, 45665750], [45667846, 45668138], [45669072, 45670093]]	[[45605234, 45605742], [45606271, 45606444], [45618039, 45618198], [45620599, 45620731], [45623122, 45623255], [45623899, 45624025], [45624575, 45624662], [45628298, 45628483], [45633561, 45633768], [45636152, 45636366], [45639791, 45639949], [45642257, 45642413], [45644273, 45646179], [45650632, 45650727], [45650839, 45650908], [45652976, 45653105], [45654419, 45654576], [45656983, 45657090], [45658004, 45658565], [45665374, 45665750], [45667846, 45668138], [45669072, 45669211]]
NM_020937	[[45605141, 45605742], [45606271, 45606444], [45609834, 45609912], [45618039, 45618198], [45620599, 45620731], [45623122, 45623255], [45623899, 45624025], [45624575, 45624662], [45628298, 45628483], [45633561, 45633768], [45636152, 45636366], [45639791, 45639949], [45642257, 45642413], [45644273, 45646179], [45650632, 45650727], [45650839, 45650908], [45652976, 45653105], [45654419, 45654576], [45656983, 45657090], [45658004, 45658565], [45665374, 45665750], [45667846, 45668138], [45669072, 45670093]]	[[45605234, 45605742], [45606271, 45606444], [45609834, 45609912], [45618039, 45618198], [45620599, 45620731], [45623122, 45623255], [45623899, 45624025], [45624575, 45624662], [45628298, 45628483], [45633561, 45633768], [45636152, 45636366], [45639791, 45639949], [45642257, 45642413], [45644273, 45646179], [45650632, 45650727], [45650839, 45650908], [45652976, 45653105], [45654419, 45654576], [45656983, 45657090], [45658004, 45658565], [45665374, 45665750], [45667846, 45668138], [45669072, 45669211]]

Promoter

Chrom	Start	End	Description
chr14	45605127	45605155	CAGE_peak_2_at_FANCM_5end
chr14	45605157	45605186	CAGE_peak_1_at_FANCM_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I045133	45133400	45137801	2.07	[{'connected_gene': 'FANCM', 'score': 578.21}, {'connected_gene': 'FKBP3', 'score': 550.77}, {'connected_gene': 'GC14M045133', 'score': 550.77}, {'connected_gene': 'PRPF39', 'score': 20.91}, {'connected_gene': 'ENSG00000212615', 'score': 11.05}, {'connected_gene': 'LOC105370474', 'score': 11.04}, {'connected_gene': 'KLHL28', 'score': 10.46}, {'connected_gene': 'SNORD127', 'score': 10.41}, {'connected_gene': 'TOGARAM1', 'score': 10.4}, {'connected_gene': 'MIS18BP1', 'score': 10.25}, {'connected_gene': 'LINC02302', 'score': 9.4}, {'connected_gene': 'GC14P045108', 'score': 0.31}, {'connected_gene': 'GC14P045107', 'score': 0.31}, {'connected_gene': 'GC14M044793', 'score': 0.26}, {'connected_gene': 'GC14P044911', 'score': 0.07}]
chr14	GH14I045249	45249054	45255005	2.34	[{'connected_gene': 'MIS18BP1', 'score': 572.75}, {'connected_gene': 'PRPF39', 'score': 14.33}, {'connected_gene': 'FANCM', 'score': 13.93}, {'connected_gene': 'KLHL28', 'score': 10.94}, {'connected_gene': 'C14orf28', 'score': 10.37}, {'connected_gene': 'GC14M044793', 'score': 0.19}, {'connected_gene': 'GC14M045228', 'score': 0.18}, {'connected_gene': 'GC14P045108', 'score': 0.11}, {'connected_gene': 'GC14P045107', 'score': 0.11}]
chr14	GH14I045138	45138282	45138663	0.34	[{'connected_gene': 'LOC105370474', 'score': 11.04}, {'connected_gene': 'ENSG00000212615', 'score': 11.04}, {'connected_gene': 'PRPF39', 'score': 11.04}, {'connected_gene': 'KLHL28', 'score': 10.46}, {'connected_gene': 'TOGARAM1', 'score': 10.4}, {'connected_gene': 'SNORD127', 'score': 10.38}, {'connected_gene': 'LINC02302', 'score': 9.39}, {'connected_gene': 'FANCM', 'score': 0.77}, {'connected_gene': 'GC14P045108', 'score': 0.29}, {'connected_gene': 'GC14P045107', 'score': 0.29}, {'connected_gene': 'GC14M044793', 'score': 0.26}, {'connected_gene': 'GC14P044911', 'score': 0.07}]
chr14	GH14I045139	45138801	45139000	0.2	[{'connected_gene': 'LOC105370474', 'score': 11.04}, {'connected_gene': 'ENSG00000212615', 'score': 11.04}, {'connected_gene': 'PRPF39', 'score': 11.04}, {'connected_gene': 'KLHL28', 'score': 10.46}, {'connected_gene': 'TOGARAM1', 'score': 10.4}, {'connected_gene': 'SNORD127', 'score': 10.38}, {'connected_gene': 'LINC02302', 'score': 9.39}, {'connected_gene': 'FANCM', 'score': 0.77}, {'connected_gene': 'GC14P045108', 'score': 0.29}, {'connected_gene': 'GC14P045107', 'score': 0.29}, {'connected_gene': 'GC14M044793', 'score': 0.28}, {'connected_gene': 'GC14P044911', 'score': 0.07}]
chr14	GH14I045176	45176698	45177500	0.38	[{'connected_gene': 'GC14M044793', 'score': 550.77}, {'connected_gene': 'FANCM', 'score': 0.26}, {'connected_gene': 'GC14P045108', 'score': 0.2}, {'connected_gene': 'GC14P045107', 'score': 0.2}, {'connected_gene': 'GC14P044911', 'score': 0.06}]
chr14	GH14I045198	45198412	45200027	0.2	[{'connected_gene': 'ENSG00000212615', 'score': 11.15}, {'connected_gene': 'LOC105370474', 'score': 11.14}, {'connected_gene': 'PRPF39', 'score': 11.14}, {'connected_gene': 'MIS18BP1', 'score': 9.66}, {'connected_gene': 'GC14M044793', 'score': 0.34}, {'connected_gene': 'FANCM', 'score': 0.21}, {'connected_gene': 'GC14P045108', 'score': 0.16}, {'connected_gene': 'GC14P045107', 'score': 0.16}, {'connected_gene': 'GC14P044911', 'score': 0.06}]