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
ENST00000472599	[[113724679, 113724879], [113784083, 113784304], [113785074, 113785130], [113786833, 113786910], [113789472, 113789598]]	[[113724858, 113724879], [113784083, 113784304], [113785074, 113785130], [113786833, 113786910], [113789472, 113789598]]
ENST00000485050	[[113775581, 113775711], [113784083, 113784304], [113785074, 113785130], [113786833, 113786910], [113789472, 113789685], [113795589, 113795789], [113798752, 113798904], [113801523, 113801641], [113804519, 113807196]]	[[113775696, 113775711], [113784083, 113784304], [113785074, 113785130], [113786833, 113786910], [113789472, 113789685], [113795589, 113795789], [113798752, 113798904], [113801523, 113801641], [113804519, 113804751]]
ENST00000281273	[[113775583, 113775711], [113775845, 113775953], [113784083, 113784304], [113785074, 113785130], [113786833, 113786910], [113789472, 113789685], [113795589, 113795789], [113798752, 113798904], [113801523, 113801641], [113804519, 113807269]]	[[113784104, 113784304], [113785074, 113785130], [113786833, 113786910], [113789472, 113789685], [113795589, 113795789], [113798752, 113798904], [113801523, 113801641], [113804519, 113804751]]
ENST00000466050	[[113775586, 113775711], [113784083, 113784304], [113785074, 113785130], [113789472, 113789653]]	None
ENST00000488665	[[113775597, 113775711], [113775845, 113776395]]	None
ENST00000479882	[[113775603, 113775711], [113784083, 113784125], [113785074, 113785130], [113789472, 113789685], [113795589, 113795789], [113798752, 113798904], [113801523, 113801641], [113804519, 113804826]]	[[113789508, 113789685], [113795589, 113795789], [113798752, 113798904], [113801523, 113801641], [113804519, 113804751]]
ENST00000493014	[[113775628, 113775711], [113789472, 113789685], [113795589, 113795789], [113798752, 113798904], [113801523, 113801641], [113804519, 113804799]]	[[113775696, 113775711], [113789472, 113789685], [113795589, 113795789], [113798752, 113798904], [113801523, 113801641], [113804519, 113804751]]
ENST00000490183	[[113775650, 113775711], [113775845, 113775953], [113784083, 113784304], [113785074, 113785191]]	None
ENST00000460163	[[113775813, 113775868], [113784083, 113784304], [113785074, 113785412]]	None
ENST00000482307	[[113784090, 113784304], [113785074, 113785130], [113786833, 113786910], [113795589, 113795691]]	[[113784104, 113784304], [113785074, 113785130], [113786833, 113786910], [113795589, 113795691]]
ENST00000466870	[[113784176, 113784304], [113785074, 113785130], [113786833, 113787171]]	None
ENST00000467703	[[113785091, 113785130], [113789472, 113789685], [113795589, 113798397]]	None
ENST00000462869	[[113795685, 113795789], [113798752, 113798904], [113801399, 113801542]]	None
ENST00000483272	[[113798713, 113798904], [113801523, 113801641], [113804519, 113804785]]	None
ENST00000495782	[[113801399, 113801641], [113804519, 113805100]]	None
ENST00000462966	[[113801615, 113801641], [113801809, 113801850], [113804519, 113805333]]	[[113801615, 113801641], [113801809, 113801813]]
NM_001256836	[[113775581, 113775711], [113789472, 113789685], [113795589, 113795789], [113798752, 113798904], [113801523, 113801641], [113804519, 113807269]]	[[113775696, 113775711], [113789472, 113789685], [113795589, 113795789], [113798752, 113798904], [113801523, 113801641], [113804519, 113804751]]
NM_001256837	[[113775581, 113775711], [113784083, 113784125], [113785074, 113785130], [113789472, 113789685], [113795589, 113795789], [113798752, 113798904], [113801523, 113801641], [113804519, 113807269]]	[[113789508, 113789685], [113795589, 113795789], [113798752, 113798904], [113801523, 113801641], [113804519, 113804751]]
NM_001256835	[[113775581, 113775711], [113784083, 113784304], [113785074, 113785130], [113786833, 113786910], [113789472, 113789685], [113795589, 113795789], [113798752, 113798904], [113801523, 113801641], [113804519, 113807269]]	[[113775696, 113775711], [113784083, 113784304], [113785074, 113785130], [113786833, 113786910], [113789472, 113789685], [113795589, 113795789], [113798752, 113798904], [113801523, 113801641], [113804519, 113804751]]
NM_024638	[[113775581, 113775711], [113775845, 113775953], [113784083, 113784304], [113785074, 113785130], [113786833, 113786910], [113789472, 113789685], [113795589, 113795789], [113798752, 113798904], [113801523, 113801641], [113804519, 113807269]]	[[113784104, 113784304], [113785074, 113785130], [113786833, 113786910], [113789472, 113789685], [113795589, 113795789], [113798752, 113798904], [113801523, 113801641], [113804519, 113804751]]

Promoter

Chrom	Start	End	Description
chr3	113775576	113775592	CAGE_peak_2_at_QTRTD1_5end
chr3	113775594	113775666	CAGE_peak_1_at_QTRTD1_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	GH03I113219	113219809	113222237	0.46	[{'connected_gene': 'QTRT2', 'score': 19.45}, {'connected_gene': 'SPICE1', 'score': 15.78}, {'connected_gene': 'ENSG00000239280', 'score': 11.28}, {'connected_gene': 'NEPRO', 'score': 10.37}, {'connected_gene': 'SIDT1', 'score': 6.16}, {'connected_gene': 'CD200R1', 'score': 4.59}, {'connected_gene': 'BOC', 'score': 0.39}, {'connected_gene': 'GC03M113216', 'score': 0.31}]
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	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	GH03I113754	113754059	113755208	1.03	[{'connected_gene': 'ATP6V1A', 'score': 13.26}, {'connected_gene': 'NAA50', 'score': 2.5}, {'connected_gene': 'USF3', 'score': 1.63}, {'connected_gene': 'QTRT2', 'score': 1.29}, {'connected_gene': 'ENSG00000242659', 'score': 0.44}, {'connected_gene': 'GRAMD1C', 'score': 0.19}]
chr3	GH03I113742	113742049	113750542	2.3	[{'connected_gene': 'ATP6V1A', 'score': 559.43}, {'connected_gene': 'ENSG00000242659', 'score': 550.77}, {'connected_gene': 'NAA50', 'score': 550.77}, {'connected_gene': 'SPICE1', 'score': 24.73}, {'connected_gene': 'QTRT2', 'score': 24.0}, {'connected_gene': 'NEPRO', 'score': 17.49}, {'connected_gene': 'LOC101180897', 'score': 14.59}, {'connected_gene': 'CFAP44', 'score': 13.72}, {'connected_gene': 'BOC', 'score': 12.72}, {'connected_gene': 'USF3', 'score': 10.26}, {'connected_gene': 'ENSG00000239280', 'score': 0.44}]
chr3	GH03I113751	113751259	113751447	0.47	[{'connected_gene': 'ATP6V1A', 'score': 15.87}, {'connected_gene': 'GRAMD1C', 'score': 10.77}, {'connected_gene': 'NAA50', 'score': 3.0}, {'connected_gene': 'QTRT2', 'score': 1.91}, {'connected_gene': 'USF3', 'score': 1.36}, {'connected_gene': 'ENSG00000242659', 'score': 0.77}]
chr3	GH03I113769	113769600	113770000	0.79	[{'connected_gene': 'NEPRO', 'score': 14.49}, {'connected_gene': 'USF3', 'score': 14.03}, {'connected_gene': 'QTRT2', 'score': 13.61}, {'connected_gene': 'SPICE1', 'score': 11.79}, {'connected_gene': 'GRAMD1C', 'score': 11.66}, {'connected_gene': 'CFAP44', 'score': 9.89}, {'connected_gene': 'ENSG00000259976', 'score': 9.67}, {'connected_gene': 'ATP6V1A', 'score': 9.55}, {'connected_gene': 'ENSG00000242659', 'score': 0.34}]
chr3	GH03I113694	113694757	113699589	2.29	[{'connected_gene': 'USF3', 'score': 560.52}, {'connected_gene': 'NAA50', 'score': 14.16}, {'connected_gene': 'GTPBP8', 'score': 12.99}, {'connected_gene': 'NEPRO', 'score': 12.5}, {'connected_gene': 'QTRT2', 'score': 10.14}, {'connected_gene': 'SIDT1', 'score': 9.15}, {'connected_gene': 'ATP6V1A', 'score': 8.29}, {'connected_gene': 'GC03P113719', 'score': 0.34}]
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	GH03I114446	114446237	114457536	1.71	[{'connected_gene': 'SPICE1', 'score': 25.99}, {'connected_gene': 'QTRT2', 'score': 13.35}, {'connected_gene': 'ENSG00000259976', 'score': 11.02}, {'connected_gene': 'USF3', 'score': 10.65}, {'connected_gene': 'ZBTB20-AS5', 'score': 0.44}, {'connected_gene': 'GC03P114568', 'score': 0.13}, {'connected_gene': 'ZBTB20', 'score': 0.02}]
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}]