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
ENST00000207870	[[38388269, 38388416], [38390040, 38390123], [38401829, 38401899], [38404427, 38404508], [38406689, 38406776], [38407098, 38407227], [38408298, 38408364], [38409675, 38409748], [38411546, 38411665], [38414145, 38414227], [38415952, 38415993], [38416634, 38416750], [38417607, 38417723], [38418408, 38418482], [38420736, 38420833], [38436995, 38437054], [38438562, 38438650], [38442381, 38442476], [38454426, 38456467]]	[[38388359, 38388416], [38390040, 38390123], [38401829, 38401899], [38404427, 38404508], [38406689, 38406776], [38407098, 38407227], [38408298, 38408364], [38409675, 38409748], [38411546, 38411665], [38414145, 38414227], [38415952, 38415993], [38416634, 38416750], [38417607, 38417723], [38418408, 38418482], [38420736, 38420833], [38436995, 38437054], [38438562, 38438650], [38442381, 38442476], [38454426, 38454504]]
ENST00000424034	[[38388298, 38388416], [38390040, 38390123], [38406689, 38406776], [38407098, 38407227], [38408298, 38408364], [38409675, 38409748], [38411546, 38411665], [38414145, 38414227], [38415952, 38415993], [38416634, 38416750], [38417607, 38417723], [38418408, 38418482], [38420736, 38420833], [38436995, 38437054], [38438562, 38438650], [38442381, 38442476], [38454426, 38456467]]	[[38388359, 38388416], [38390040, 38390123], [38406689, 38406735]]
ENST00000542835	[[38388345, 38388416], [38390040, 38390123], [38406689, 38406776], [38407098, 38407227], [38408298, 38408364], [38409675, 38409748], [38411546, 38411665], [38414145, 38414227], [38415952, 38415993], [38416634, 38416750], [38417607, 38417723], [38418408, 38418482], [38420736, 38420833], [38436995, 38437054], [38438562, 38438650], [38442381, 38442476], [38454426, 38454767]]	[[38407131, 38407227], [38408298, 38408364], [38409675, 38409748], [38411546, 38411665], [38414145, 38414227], [38415952, 38415993], [38416634, 38416750], [38417607, 38417723], [38418408, 38418482], [38420736, 38420833], [38436995, 38437054], [38438562, 38438650], [38442381, 38442476], [38454426, 38454504]]
ENST00000427323	[[38388250, 38388416], [38390040, 38390123], [38397232, 38398649]]	[[38388359, 38388416], [38390040, 38390123], [38397232, 38397293]]
ENST00000487569	[[38408298, 38408364], [38409675, 38409748], [38411546, 38411772]]	None
ENST00000472721	[[38418411, 38418482], [38420736, 38420833], [38436995, 38437054], [38438562, 38438650], [38442381, 38442476], [38462703, 38462839]]	None
NM_005108	[[38388250, 38388416], [38390040, 38390123], [38401829, 38401899], [38404427, 38404508], [38406689, 38406776], [38407098, 38407227], [38408298, 38408364], [38409675, 38409748], [38411546, 38411665], [38414145, 38414227], [38415952, 38415993], [38416634, 38416750], [38417607, 38417723], [38418408, 38418482], [38420736, 38420833], [38436995, 38437054], [38438562, 38438650], [38442381, 38442476], [38454426, 38456467]]	[[38388359, 38388416], [38390040, 38390123], [38401829, 38401899], [38404427, 38404508], [38406689, 38406776], [38407098, 38407227], [38408298, 38408364], [38409675, 38409748], [38411546, 38411665], [38414145, 38414227], [38415952, 38415993], [38416634, 38416750], [38417607, 38417723], [38418408, 38418482], [38420736, 38420833], [38436995, 38437054], [38438562, 38438650], [38442381, 38442476], [38454426, 38454504]]

Promoter

Chrom	Start	End	Description
chr3	38388255	38388353	CAGE_peak_1_at_XYLB_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I038346	38346150	38348133	2.07	[{'connected_gene': 'XYLB', 'score': 555.89}, {'connected_gene': 'OXSR1', 'score': 14.19}, {'connected_gene': 'GORASP1', 'score': 11.11}, {'connected_gene': 'WDR48', 'score': 10.76}, {'connected_gene': 'SCN11A', 'score': 4.07}, {'connected_gene': 'PIR42930', 'score': 0.26}]
chr3	GH03I038426	38426463	38427727	0.63	[{'connected_gene': 'EXOG', 'score': 13.28}, {'connected_gene': 'ACVR2B', 'score': 0.31}, {'connected_gene': 'PIR42930', 'score': 0.28}, {'connected_gene': 'XYLB', 'score': 0.18}]
chr3	GH03I038421	38421601	38422397	0.4	[{'connected_gene': 'EXOG', 'score': 4.21}, {'connected_gene': 'PIR42930', 'score': 0.29}, {'connected_gene': 'ACVR2B', 'score': 0.29}, {'connected_gene': 'XYLB', 'score': 0.18}]
chr3	GH03I038267	38267353	38268040	0.4	[{'connected_gene': 'SLC22A13', 'score': 550.77}, {'connected_gene': 'RNU6-235P', 'score': 12.88}, {'connected_gene': 'XYLB', 'score': 10.98}, {'connected_gene': 'MYD88', 'score': 10.84}, {'connected_gene': 'ACAA1', 'score': 10.83}, {'connected_gene': 'VILL', 'score': 9.62}, {'connected_gene': 'LOC101409262', 'score': 0.77}, {'connected_gene': 'GC03M038270', 'score': 0.77}]
chr3	GH03I038438	38438530	38438679	0.38	[{'connected_gene': 'ACVR2B', 'score': 0.37}, {'connected_gene': 'PIR42930', 'score': 0.25}, {'connected_gene': 'XYLB', 'score': 0.16}]
chr3	GH03I038268	38268201	38269000	0.31	[{'connected_gene': 'RNU6-235P', 'score': 12.88}, {'connected_gene': 'XYLB', 'score': 10.98}, {'connected_gene': 'ACAA1', 'score': 10.83}, {'connected_gene': 'MYD88', 'score': 10.83}, {'connected_gene': 'VILL', 'score': 9.62}, {'connected_gene': 'DLEC1', 'score': 4.26}, {'connected_gene': 'SLC22A13', 'score': 0.77}, {'connected_gene': 'LOC101409262', 'score': 0.77}, {'connected_gene': 'GC03M038270', 'score': 0.77}]
chr3	GH03I038452	38452750	38456796	2.01	[{'connected_gene': 'ACVR2B-AS1', 'score': 550.77}, {'connected_gene': 'ACVR2B', 'score': 550.77}, {'connected_gene': 'EXOG', 'score': 13.74}, {'connected_gene': 'XYLB', 'score': 0.14}]