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
ENST00000295878	[[113682983, 113684206], [113697032, 113697178], [113697704, 113697857], [113699496, 113699640], [113720441, 113720543], [113721302, 113721385], [113723483, 113723593], [113724354, 113724809], [113729618, 113729868], [113737524, 113737715], [113750472, 113750626], [113753771, 113753995], [113755454, 113755633], [113761549, 113761693], [113765437, 113765579], [113772443, 113772482], [113775223, 113775460]]	[[113684001, 113684206], [113697032, 113697178], [113697704, 113697857], [113699496, 113699640], [113720441, 113720543], [113721302, 113721385], [113723483, 113723593], [113724354, 113724809], [113729618, 113729868], [113737524, 113737715], [113750472, 113750626], [113753771, 113753995], [113755454, 113755633], [113761549, 113761693], [113765437, 113765579], [113772443, 113772482], [113775223, 113775313]]
ENST00000460813	[[113697155, 113697178], [113697704, 113697857], [113699496, 113699640], [113720441, 113720543], [113721302, 113721385], [113723233, 113723593], [113724354, 113724809], [113729618, 113729868], [113737524, 113737715], [113750472, 113750626], [113753771, 113753995], [113755454, 113755633], [113755832, 113755941], [113761549, 113761688], [113765437, 113765579], [113775223, 113775396]]	[[113761674, 113761688], [113765437, 113765579], [113775223, 113775313]]
ENST00000545063	[[113697155, 113697178], [113697704, 113697857], [113699496, 113699640], [113720441, 113720543], [113721302, 113721385], [113723233, 113723593], [113724354, 113724809], [113729618, 113729868], [113737524, 113737715], [113750472, 113750626], [113753771, 113753995], [113755454, 113755633], [113755832, 113755941], [113761549, 113761688], [113765437, 113765579], [113775223, 113775396]]	[[113723409, 113723593], [113724354, 113724809], [113729618, 113729868], [113737524, 113737715], [113750472, 113750626], [113753771, 113753995], [113755454, 113755541]]
ENST00000481358	[[113722920, 113723593], [113724354, 113724809], [113729618, 113729868], [113737524, 113737715], [113750472, 113750626], [113753771, 113753995], [113755454, 113755633], [113761549, 113761693], [113775223, 113775386]]	None
ENST00000491000	[[113724354, 113724809], [113729618, 113729868], [113737524, 113737715], [113750472, 113750626], [113753771, 113753995], [113755454, 113755633], [113761549, 113761693], [113765437, 113765579], [113775223, 113775441]]	[[113724354, 113724809], [113729618, 113729868], [113737524, 113737715], [113750472, 113750626], [113753771, 113753995], [113755454, 113755633], [113761549, 113761693], [113765437, 113765579], [113775223, 113775313]]
ENST00000483766	[[113753890, 113753995], [113755454, 113755633], [113761549, 113761693], [113775223, 113775386]]	[[113753890, 113753995], [113755454, 113755633], [113761549, 113761693], [113775223, 113775386]]
ENST00000463695	[[113753940, 113753995], [113755454, 113755633], [113758231, 113758335], [113761549, 113761693], [113775223, 113775334]]	[[113761666, 113761693], [113775223, 113775313]]
ENST00000480588	[[113761656, 113761693], [113765437, 113765579], [113772443, 113772482], [113772950, 113773063], [113775223, 113775335]]	None
ENST00000527855	[[113697341, 113697857], [113699496, 113699640], [113720441, 113720618]]	None
NM_020817	[[113682983, 113684206], [113697032, 113697178], [113697704, 113697857], [113699496, 113699640], [113720441, 113720543], [113721302, 113721385], [113723483, 113723593], [113724354, 113724809], [113729618, 113729868], [113737524, 113737715], [113750472, 113750626], [113753771, 113753995], [113755454, 113755633], [113761549, 113761693], [113765437, 113765579], [113772443, 113772482], [113775223, 113775460]]	[[113684001, 113684206], [113697032, 113697178], [113697704, 113697857], [113699496, 113699640], [113720441, 113720543], [113721302, 113721385], [113723483, 113723593], [113724354, 113724809], [113729618, 113729868], [113737524, 113737715], [113750472, 113750626], [113753771, 113753995], [113755454, 113755633], [113761549, 113761693], [113765437, 113765579], [113772443, 113772482], [113775223, 113775313]]

Promoter

Chrom	Start	End	Description
chr3	113775328	113775394	CAGE_peak_1_at_KIAA1407_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I113912	113912886	113913663	0.75	[{'connected_gene': 'QTRT2', 'score': 9.98}, {'connected_gene': 'CCDC191', 'score': 9.93}, {'connected_gene': 'GRAMD1C', 'score': 5.14}, {'connected_gene': 'VPS26AP1', 'score': 0.44}, {'connected_gene': 'LOC100420528', 'score': 0.31}, {'connected_gene': 'GC03M113853', 'score': 0.06}]
chr3	GH03I113846	113846852	113848892	0.66	[{'connected_gene': 'QTRT2', 'score': 10.16}, {'connected_gene': 'CCDC191', 'score': 10.13}, {'connected_gene': 'GC03M113852', 'score': 0.77}, {'connected_gene': 'GRAMD1C', 'score': 0.37}]
chr3	GH03I114110	114110401	114112000	0.79	[{'connected_gene': 'QTRT2', 'score': 15.07}, {'connected_gene': 'CCDC191', 'score': 10.69}, {'connected_gene': 'LOC391566', 'score': 0.44}, {'connected_gene': 'GC03M114171', 'score': 0.21}, {'connected_gene': 'GC03M114172', 'score': 0.21}, {'connected_gene': 'GC03M113853', 'score': 0.2}]
chr3	GH03I114066	114066774	114066833	0.5	[{'connected_gene': 'QTRT2', 'score': 550.21}, {'connected_gene': 'CCDC191', 'score': 0.39}, {'connected_gene': 'LOC391566', 'score': 0.28}, {'connected_gene': 'GC03M113853', 'score': 0.14}]
chr3	GH03I114055	114055316	114058096	2.06	[{'connected_gene': 'QTRT2', 'score': 565.83}, {'connected_gene': 'CCDC191', 'score': 550.77}, {'connected_gene': 'SPICE1', 'score': 10.21}, {'connected_gene': 'LOC391566', 'score': 0.25}, {'connected_gene': 'GC03M113853', 'score': 0.13}]
chr3	GH03I114091	114091987	114093200	0.58	[{'connected_gene': 'CCDC191', 'score': 11.34}, {'connected_gene': 'QTRT2', 'score': 11.23}, {'connected_gene': 'LOC391566', 'score': 0.39}, {'connected_gene': 'GC03M113853', 'score': 0.17}]
chr3	GH03I114093	114093600	114094001	0.54	[{'connected_gene': 'CCDC191', 'score': 11.34}, {'connected_gene': 'QTRT2', 'score': 11.23}, {'connected_gene': 'LOC391566', 'score': 0.44}, {'connected_gene': 'GC03M113853', 'score': 0.17}]
chr3	GH03I114079	114079449	114080963	0.4	[{'connected_gene': 'CCDC191', 'score': 0.34}, {'connected_gene': 'LOC391566', 'score': 0.34}, {'connected_gene': 'QTRT2', 'score': 0.19}, {'connected_gene': 'GC03M113853', 'score': 0.15}]
chr3	GH03I113531	113531036	113535294	1.83	[{'connected_gene': 'SIDT1', 'score': 586.7}, {'connected_gene': 'CFAP44', 'score': 5.89}, {'connected_gene': 'CCDC191', 'score': 4.37}, {'connected_gene': 'GC03P113536', 'score': 0.77}]
chr3	GH03I113838	113838214	113839728	1.9	[{'connected_gene': 'GRAMD1C', 'score': 581.34}, {'connected_gene': 'QTRT2', 'score': 23.77}, {'connected_gene': 'CCDC191', 'score': 10.59}, {'connected_gene': 'SPICE1', 'score': 10.23}, {'connected_gene': 'GC03M113852', 'score': 0.39}]
chr3	GH03I113829	113829705	113833109	1.1	[{'connected_gene': 'GRAMD1C', 'score': 36.46}, {'connected_gene': 'QTRT2', 'score': 10.6}, {'connected_gene': 'CCDC191', 'score': 10.58}, {'connected_gene': 'GC03M113852', 'score': 0.37}]
chr3	GH03I114103	114103201	114103599	0.2	[{'connected_gene': 'LOC391566', 'score': 550.77}, {'connected_gene': 'CCDC191', 'score': 0.25}, {'connected_gene': 'GC03M113853', 'score': 0.18}]
chr3	GH03I114399	114399804	114401695	1.17	[{'connected_gene': 'ZBTB20', 'score': 4.44}, {'connected_gene': 'CCDC191', 'score': 1.42}, {'connected_gene': 'GC03P114421', 'score': 0.34}, {'connected_gene': 'ZBTB20-AS1', 'score': 0.25}]
chr3	GH03I113736	113736074	113738359	1.07	[{'connected_gene': 'USF3', 'score': 11.33}, {'connected_gene': 'QTRT2', 'score': 9.81}, {'connected_gene': 'CCDC191', 'score': 9.81}, {'connected_gene': 'ATP6V1A', 'score': 8.46}, {'connected_gene': 'ENSG00000239280', 'score': 0.77}, {'connected_gene': 'NAA50', 'score': 0.44}, {'connected_gene': 'GC03P113719', 'score': 0.37}]
chr3	GH03I113985	113985560	113985881	0.38	[{'connected_gene': 'LOC100127892', 'score': 550.77}, {'connected_gene': 'CCDC191', 'score': 12.61}, {'connected_gene': 'QTRT2', 'score': 11.42}, {'connected_gene': 'ZDHHC23', 'score': 4.67}, {'connected_gene': 'SIDT1', 'score': 2.33}, {'connected_gene': 'USF3', 'score': 1.83}, {'connected_gene': 'LOC105374048', 'score': 0.37}, {'connected_gene': 'GC03M113853', 'score': 0.08}]
chr3	GH03I113982	113982923	113982991	0.25	[{'connected_gene': 'LOC100127892', 'score': 550.77}, {'connected_gene': 'CCDC191', 'score': 13.56}, {'connected_gene': 'QTRT2', 'score': 11.55}, {'connected_gene': 'ZDHHC23', 'score': 3.46}, {'connected_gene': 'DRD3', 'score': 1.39}, {'connected_gene': 'GC03M113853', 'score': 0.08}]