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
ENST00000296051	[[148847370, 148847727], [148857790, 148858285], [148858803, 148858975], [148859081, 148859167], [148863140, 148863333], [148868385, 148868467], [148871280, 148871435], [148872893, 148873002], [148875136, 148875318], [148876452, 148876633], [148877832, 148878066], [148879934, 148880120], [148880476, 148880665], [148881628, 148881736], [148884820, 148885027], [148885679, 148885770], [148889881, 148891519]]	[[148847510, 148847727], [148857790, 148858285], [148858803, 148858975], [148859081, 148859167], [148863140, 148863333], [148868385, 148868467], [148871280, 148871435], [148872893, 148873002], [148875136, 148875318], [148876452, 148876633], [148877832, 148878066], [148879934, 148880120], [148880476, 148880665], [148881628, 148881736], [148884820, 148885027], [148885679, 148885770], [148889881, 148890009]]
ENST00000462030	[[148847424, 148848240], [148857790, 148858285], [148858803, 148858975], [148859081, 148859167], [148863140, 148863333], [148868385, 148868467], [148871280, 148871922]]	None
ENST00000460120	[[148847424, 148847727], [148858803, 148858975], [148859081, 148859167], [148863140, 148863333], [148868385, 148868467], [148871280, 148871435], [148872893, 148873002], [148875136, 148875318], [148876452, 148876633], [148877832, 148878066], [148879934, 148880120], [148880476, 148880665], [148881628, 148881736], [148884820, 148885027], [148885679, 148885770], [148889881, 148890148]]	[[148847510, 148847727], [148858803, 148858975], [148859081, 148859167], [148863140, 148863333], [148868385, 148868467], [148871280, 148871435], [148872893, 148873002], [148875136, 148875318], [148876452, 148876633], [148877832, 148878066], [148879934, 148880120], [148880476, 148880665], [148881628, 148881736], [148884820, 148885027], [148885679, 148885770], [148889881, 148890009]]
ENST00000494327	[[148847425, 148847727], [148847984, 148848238]]	None
ENST00000486530	[[148847477, 148847727], [148857790, 148858285], [148858803, 148858975], [148859081, 148859167], [148863140, 148863333], [148868385, 148868467], [148871280, 148871896]]	None
ENST00000460822	[[148877832, 148878066], [148879934, 148880120], [148880476, 148880665], [148881628, 148881736], [148884851, 148885027], [148885675, 148885770], [148888257, 148888360], [148889881, 148890748]]	[[148877832, 148878066], [148879934, 148880120], [148880476, 148880665], [148881628, 148881736], [148884851, 148884935]]
ENST00000478525	[[148885001, 148885027], [148885679, 148886254]]	None
NM_001308258	[[148847370, 148847727], [148858803, 148858975], [148859081, 148859167], [148863140, 148863333], [148868385, 148868467], [148871280, 148871435], [148872893, 148873002], [148875136, 148875318], [148876452, 148876633], [148877832, 148878066], [148879934, 148880120], [148880476, 148880665], [148881628, 148881736], [148884820, 148885027], [148885679, 148885770], [148889881, 148890983]]	[[148847510, 148847727], [148858803, 148858975], [148859081, 148859167], [148863140, 148863333], [148868385, 148868467], [148871280, 148871435], [148872893, 148873002], [148875136, 148875318], [148876452, 148876633], [148877832, 148878066], [148879934, 148880120], [148880476, 148880665], [148881628, 148881736], [148884820, 148885027], [148885679, 148885770], [148889881, 148890009]]
NM_032383	[[148847370, 148847727], [148857790, 148858285], [148858803, 148858975], [148859081, 148859167], [148863140, 148863333], [148868385, 148868467], [148871280, 148871435], [148872893, 148873002], [148875136, 148875318], [148876452, 148876633], [148877832, 148878066], [148879934, 148880120], [148880476, 148880665], [148881628, 148881736], [148884820, 148885027], [148885679, 148885770], [148889881, 148890983]]	[[148847510, 148847727], [148857790, 148858285], [148858803, 148858975], [148859081, 148859167], [148863140, 148863333], [148868385, 148868467], [148871280, 148871435], [148872893, 148873002], [148875136, 148875318], [148876452, 148876633], [148877832, 148878066], [148879934, 148880120], [148880476, 148880665], [148881628, 148881736], [148884820, 148885027], [148885679, 148885770], [148889881, 148890009]]

Promoter

Chrom	Start	End	Description
chr3	148847397	148847495	CAGE_peak_1_at_HPS3_5end
chr3	148847518	148847525	CAGE_peak_2_at_HPS3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I149128	149128800	149133225	2.23	[{'connected_gene': 'HPS3', 'score': 550.77}, {'connected_gene': 'COMMD2', 'score': 14.18}, {'connected_gene': 'HLTF', 'score': 10.52}, {'connected_gene': 'TM4SF18', 'score': 10.28}, {'connected_gene': 'CPHL1P', 'score': 5.47}, {'connected_gene': 'GC03M149173', 'score': 0.26}]
chr3	GH03I149162	149162185	149162283	0.2	[{'connected_gene': 'HPS3', 'score': 12.17}, {'connected_gene': 'UBQLN4P1', 'score': 10.71}, {'connected_gene': 'GYG1', 'score': 10.71}, {'connected_gene': 'GC03M149173', 'score': 0.39}]
chr3	GH03I149156	149156534	149158495	0.2	[{'connected_gene': 'HPS3', 'score': 16.67}, {'connected_gene': 'CP', 'score': 11.42}, {'connected_gene': 'UBQLN4P1', 'score': 10.72}, {'connected_gene': 'GYG1', 'score': 10.72}, {'connected_gene': 'HLTF', 'score': 9.14}, {'connected_gene': 'GC03M149173', 'score': 0.37}]
chr3	GH03I149120	149120201	149120800	0.83	[{'connected_gene': 'HPS3', 'score': 0.44}, {'connected_gene': 'MED28P2', 'score': 0.34}]
chr3	GH03I149398	149398542	149399835	0.6	[{'connected_gene': 'HPS3', 'score': 4.57}, {'connected_gene': 'LOC105374151', 'score': 0.44}, {'connected_gene': 'ENSG00000243885', 'score': 0.39}]
chr3	GH03I149149	149149744	149150987	0.2	[{'connected_gene': 'HLTF', 'score': 12.14}, {'connected_gene': 'HPS3', 'score': 5.21}, {'connected_gene': 'GYG1', 'score': 4.78}, {'connected_gene': 'GC03M149173', 'score': 0.34}]
chr3	GH03I149151	149151802	149153143	1.3	[{'connected_gene': 'HLTF', 'score': 6.05}, {'connected_gene': 'HPS3', 'score': 0.34}, {'connected_gene': 'GC03M149173', 'score': 0.34}]
chr3	GH03I149085	149085006	149087191	2.08	[{'connected_gene': 'HLTF', 'score': 567.67}, {'connected_gene': 'HLTF-AS1', 'score': 550.77}, {'connected_gene': 'HPS3', 'score': 10.54}, {'connected_gene': 'GYG1', 'score': 0.16}]
chr3	GH03I149144	149144663	149148185	1.09	[{'connected_gene': 'HLTF', 'score': 18.68}, {'connected_gene': 'HLTF-AS1', 'score': 10.55}, {'connected_gene': 'GYG1', 'score': 6.02}, {'connected_gene': 'HPS3', 'score': 4.77}, {'connected_gene': 'GC03M149173', 'score': 0.31}]
chr3	GH03I149365	149365355	149379690	2.38	[{'connected_gene': 'TM4SF1', 'score': 561.7}, {'connected_gene': 'HPS3', 'score': 12.73}, {'connected_gene': 'TM4SF18', 'score': 11.68}, {'connected_gene': 'TM4SF1-AS1', 'score': 0.44}, {'connected_gene': 'RPS25P5', 'score': 0.39}]
chr3	GH03I149338	149338195	149343755	1.48	[{'connected_gene': 'TM4SF1', 'score': 17.39}, {'connected_gene': 'TM4SF1-AS1', 'score': 11.61}, {'connected_gene': 'HPS3', 'score': 10.74}, {'connected_gene': 'TM4SF18', 'score': 0.44}, {'connected_gene': 'GC03M149358', 'score': 0.37}]
chr3	GH03I149213	149213370	149226368	1.72	[{'connected_gene': 'CP', 'score': 569.09}, {'connected_gene': 'HPS3', 'score': 17.36}, {'connected_gene': 'HLTF', 'score': 4.45}, {'connected_gene': 'LOC101927942', 'score': 0.77}, {'connected_gene': 'GC03M149178', 'score': 0.26}]
chr3	GH03I149196	149196028	149199138	0.99	[{'connected_gene': 'CP', 'score': 11.96}, {'connected_gene': 'HPS3', 'score': 5.24}, {'connected_gene': 'TMEM183B', 'score': 4.57}, {'connected_gene': 'GC03M149178', 'score': 0.37}]
chr3	GH03I149242	149242939	149249186	1.11	[{'connected_gene': 'CP', 'score': 29.02}, {'connected_gene': 'HPS3', 'score': 16.49}, {'connected_gene': 'LOC101927942', 'score': 0.34}, {'connected_gene': 'ENSG00000244468', 'score': 0.28}, {'connected_gene': 'CPHL1P', 'score': 0.25}]
chr3	GH03I149154	149154539	149155379	0.2	[{'connected_gene': 'CP', 'score': 11.42}, {'connected_gene': 'HLTF', 'score': 6.73}, {'connected_gene': 'HPS3', 'score': 6.05}, {'connected_gene': 'GC03M149173', 'score': 0.37}]
chr3	GH03I149133	149133401	149136107	0.69	[{'connected_gene': 'TM4SF18', 'score': 10.28}, {'connected_gene': 'HLTF', 'score': 10.06}, {'connected_gene': 'CPHL1P', 'score': 5.04}, {'connected_gene': 'HPS3', 'score': 0.44}, {'connected_gene': 'GC03M149173', 'score': 0.28}]