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
ENST00000222690	[[44866389, 44869762], [44875127, 44875257], [44880497, 44880611], [44882875, 44882953], [44887567, 44887676]]	[[44869742, 44869762], [44875127, 44875257], [44880497, 44880611], [44882875, 44882953], [44887567, 44887570]]
ENST00000437072	[[44869495, 44869762], [44875127, 44875257], [44882875, 44882953], [44887567, 44887681]]	[[44869742, 44869762], [44875127, 44875257], [44882875, 44882953], [44887567, 44887570]]
ENST00000349299	[[44873826, 44874161], [44875127, 44875257], [44882875, 44882953], [44887567, 44887620]]	[[44874099, 44874161], [44875127, 44875257], [44882875, 44882953], [44887567, 44887570]]
ENST00000308153	[[44873826, 44874161], [44875127, 44875257], [44880497, 44880611], [44882875, 44882953], [44887567, 44887662]]	[[44874099, 44874161], [44875127, 44875257], [44880497, 44880611], [44882875, 44882953], [44887567, 44887570]]
ENST00000350771	[[44873826, 44874161], [44875127, 44875257], [44880497, 44880611], [44887567, 44887675]]	[[44874099, 44874161], [44875127, 44875257], [44880497, 44880611], [44887567, 44887570]]
ENST00000381124	[[44873837, 44874161], [44880497, 44880611], [44882875, 44882953], [44887567, 44887679]]	[[44874155, 44874161], [44880497, 44880611], [44882875, 44882953], [44887567, 44887570]]
ENST00000521529	[[44873908, 44874161], [44880497, 44880611], [44887567, 44887639]]	[[44874155, 44874161], [44880497, 44880611], [44887567, 44887570]]
ENST00000446531	[[44874523, 44875257], [44880497, 44880611], [44882875, 44882953], [44887567, 44887682]]	[[44875083, 44875257], [44880497, 44880611], [44882875, 44882953], [44887567, 44887570]]
NM_138635	[[44866487, 44869762], [44875127, 44875257], [44880497, 44880611], [44882875, 44882953], [44887567, 44887725]]	[[44869742, 44869762], [44875127, 44875257], [44880497, 44880611], [44882875, 44882953], [44887567, 44887570]]
NM_012412	[[44873212, 44874161], [44875127, 44875257], [44880497, 44880611], [44882875, 44882953], [44887567, 44887725]]	[[44874099, 44874161], [44875127, 44875257], [44880497, 44880611], [44882875, 44882953], [44887567, 44887570]]
NM_201516	[[44873212, 44874161], [44880497, 44880611], [44882875, 44882953], [44887567, 44887725]]	[[44874155, 44874161], [44880497, 44880611], [44882875, 44882953], [44887567, 44887570]]
NM_201517	[[44873212, 44874161], [44875127, 44875257], [44882875, 44882953], [44887567, 44887725]]	[[44874099, 44874161], [44875127, 44875257], [44882875, 44882953], [44887567, 44887570]]
NM_201436	[[44873212, 44874161], [44875127, 44875257], [44880497, 44880611], [44887567, 44887725]]	[[44874099, 44874161], [44875127, 44875257], [44880497, 44880611], [44887567, 44887570]]

Promoter

Chrom	Start	End	Description
chr7	44887644	44887710	CAGE_peak_1_at_H2AFV_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I044827	44827190	44827541	0.2	[{'connected_gene': 'H2AFV', 'score': 18.17}, {'connected_gene': 'ZMIZ2', 'score': 12.3}, {'connected_gene': 'LINC01952', 'score': 11.95}, {'connected_gene': 'ENSG00000228596', 'score': 11.68}, {'connected_gene': 'PPIA', 'score': 6.47}, {'connected_gene': 'PIR39901', 'score': 0.77}, {'connected_gene': 'LOC105375260', 'score': 0.44}]
chr7	GH07I044766	44766432	44771102	1.16	[{'connected_gene': 'H2AFV', 'score': 16.24}, {'connected_gene': 'LINC01952', 'score': 11.55}, {'connected_gene': 'ZMIZ2', 'score': 7.84}, {'connected_gene': 'PPIA', 'score': 5.6}, {'connected_gene': 'PIR36062', 'score': 0.39}, {'connected_gene': 'ENSG00000228596', 'score': 0.37}]
chr7	GH07I044815	44815734	44815817	0.23	[{'connected_gene': 'H2AFV', 'score': 13.38}, {'connected_gene': 'LINC01952', 'score': 12.25}, {'connected_gene': 'ENSG00000228596', 'score': 12.17}, {'connected_gene': 'MYO1G', 'score': 10.66}, {'connected_gene': 'TBRG4', 'score': 1.3}, {'connected_gene': 'LOC105375260', 'score': 0.44}, {'connected_gene': 'GC07P044796', 'score': 0.37}, {'connected_gene': 'PPIA', 'score': 0.37}, {'connected_gene': 'GC07P044797', 'score': 0.37}]
chr7	GH07I044893	44893266	44896273	1.18	[{'connected_gene': 'H2AFV', 'score': 18.63}, {'connected_gene': 'LINC01952', 'score': 11.85}, {'connected_gene': 'MYO1G', 'score': 10.97}, {'connected_gene': 'ENSG00000228596', 'score': 10.72}, {'connected_gene': 'PPIA', 'score': 6.92}, {'connected_gene': 'PURB', 'score': 6.42}, {'connected_gene': 'ZMIZ2', 'score': 5.86}, {'connected_gene': 'OGDH', 'score': 1.75}, {'connected_gene': 'PIR53562', 'score': 0.77}, {'connected_gene': 'LOC105375262', 'score': 0.39}]
chr7	GH07I044588	44588400	44588601	0.74	[{'connected_gene': 'H2AFV', 'score': 11.54}, {'connected_gene': 'LINC01952', 'score': 11.54}, {'connected_gene': 'ENSG00000228596', 'score': 11.47}, {'connected_gene': 'PURB', 'score': 10.71}, {'connected_gene': 'PIR35616', 'score': 0.44}, {'connected_gene': 'GC07P044582', 'score': 0.44}, {'connected_gene': 'ENSG00000271586', 'score': 0.39}]
chr7	GH07I044589	44588182	44588371	0.75	[{'connected_gene': 'H2AFV', 'score': 11.54}, {'connected_gene': 'LINC01952', 'score': 11.54}, {'connected_gene': 'ENSG00000228596', 'score': 11.47}, {'connected_gene': 'PURB', 'score': 10.71}, {'connected_gene': 'PIR35616', 'score': 0.44}, {'connected_gene': 'GC07P044582', 'score': 0.44}, {'connected_gene': 'ENSG00000271586', 'score': 0.39}]
chr7	GH07I044824	44824601	44826572	0.99	[{'connected_gene': 'ZMIZ2', 'score': 18.12}, {'connected_gene': 'DDX56', 'score': 17.12}, {'connected_gene': 'H2AFV', 'score': 11.95}, {'connected_gene': 'LINC01952', 'score': 11.95}, {'connected_gene': 'ENSG00000228596', 'score': 11.7}, {'connected_gene': 'PURB', 'score': 10.75}, {'connected_gene': 'PPIA', 'score': 6.85}, {'connected_gene': 'PIR39901', 'score': 0.77}, {'connected_gene': 'LOC105375260', 'score': 0.77}]
chr7	GH07I044806	44806186	44806570	0.33	[{'connected_gene': 'ZMIZ2', 'score': 18.57}, {'connected_gene': 'LINC01952', 'score': 11.95}, {'connected_gene': 'H2AFV', 'score': 11.95}, {'connected_gene': 'MYO1G', 'score': 11.16}, {'connected_gene': 'PPIA', 'score': 10.29}, {'connected_gene': 'DDX56', 'score': 1.83}, {'connected_gene': 'GC07P044796', 'score': 0.44}, {'connected_gene': 'GC07P044797', 'score': 0.44}, {'connected_gene': 'LOC105375260', 'score': 0.37}]
chr7	GH07I044804	44804322	44804471	0.49	[{'connected_gene': 'ZMIZ2', 'score': 18.57}, {'connected_gene': 'LINC01952', 'score': 11.95}, {'connected_gene': 'H2AFV', 'score': 11.95}, {'connected_gene': 'MYO1G', 'score': 11.16}, {'connected_gene': 'GC07P044796', 'score': 0.44}, {'connected_gene': 'PPIA', 'score': 0.44}, {'connected_gene': 'GC07P044797', 'score': 0.44}, {'connected_gene': 'LOC105375260', 'score': 0.37}]
chr7	GH07I044805	44805282	44805431	0.56	[{'connected_gene': 'ZMIZ2', 'score': 12.05}, {'connected_gene': 'LINC01952', 'score': 11.95}, {'connected_gene': 'H2AFV', 'score': 11.95}, {'connected_gene': 'MYO1G', 'score': 11.16}, {'connected_gene': 'GC07P044796', 'score': 0.44}, {'connected_gene': 'PPIA', 'score': 0.44}, {'connected_gene': 'GC07P044797', 'score': 0.44}, {'connected_gene': 'LOC105375260', 'score': 0.37}]
chr7	GH07I044807	44805122	44805251	0.6	[{'connected_gene': 'ZMIZ2', 'score': 12.05}, {'connected_gene': 'LINC01952', 'score': 11.95}, {'connected_gene': 'H2AFV', 'score': 11.95}, {'connected_gene': 'MYO1G', 'score': 11.16}, {'connected_gene': 'GC07P044796', 'score': 0.44}, {'connected_gene': 'PPIA', 'score': 0.44}, {'connected_gene': 'GC07P044797', 'score': 0.44}, {'connected_gene': 'LOC105375260', 'score': 0.37}]
chr7	GH07I044897	44897369	44897653	0.37	[{'connected_gene': 'MYO1G', 'score': 16.3}, {'connected_gene': 'LINC01952', 'score': 11.85}, {'connected_gene': 'H2AFV', 'score': 11.85}, {'connected_gene': 'ENSG00000228596', 'score': 10.72}, {'connected_gene': 'PURB', 'score': 9.52}, {'connected_gene': 'OGDH', 'score': 2.42}, {'connected_gene': 'LOC105375262', 'score': 0.44}, {'connected_gene': 'PIR53562', 'score': 0.44}]
chr7	GH07I044921	44921702	44921851	0.69	[{'connected_gene': 'PURB', 'score': 12.13}, {'connected_gene': 'H2AFV', 'score': 11.84}, {'connected_gene': 'LINC01952', 'score': 11.84}, {'connected_gene': 'ENSG00000228596', 'score': 10.88}, {'connected_gene': 'ZMIZ2', 'score': 6.67}, {'connected_gene': 'MRPS23P1', 'score': 0.77}, {'connected_gene': 'ENSG00000260997', 'score': 0.28}]
chr7	GH07I044912	44912001	44913000	0.49	[{'connected_gene': 'PURB', 'score': 12.42}, {'connected_gene': 'H2AFV', 'score': 11.69}, {'connected_gene': 'LINC01952', 'score': 11.69}, {'connected_gene': 'MYO1G', 'score': 11.56}, {'connected_gene': 'PPIA', 'score': 4.66}, {'connected_gene': 'MRPS23P1', 'score': 0.44}, {'connected_gene': 'LOC105375262', 'score': 0.44}]
chr7	GH07I044922	44922400	44922600	0.69	[{'connected_gene': 'PURB', 'score': 12.13}, {'connected_gene': 'H2AFV', 'score': 11.84}, {'connected_gene': 'LINC01952', 'score': 11.84}, {'connected_gene': 'ENSG00000228596', 'score': 10.89}, {'connected_gene': 'MRPS23P1', 'score': 0.77}, {'connected_gene': 'ENSG00000260997', 'score': 0.28}]
chr7	GH07I044923	44922000	44922201	0.74	[{'connected_gene': 'PURB', 'score': 12.13}, {'connected_gene': 'H2AFV', 'score': 11.84}, {'connected_gene': 'LINC01952', 'score': 11.84}, {'connected_gene': 'ENSG00000228596', 'score': 10.88}, {'connected_gene': 'MRPS23P1', 'score': 0.77}, {'connected_gene': 'ENSG00000260997', 'score': 0.28}]
chr7	GH07I044924	44922202	44922371	0.72	[{'connected_gene': 'PURB', 'score': 12.13}, {'connected_gene': 'H2AFV', 'score': 11.84}, {'connected_gene': 'LINC01952', 'score': 11.84}, {'connected_gene': 'ENSG00000228596', 'score': 10.88}, {'connected_gene': 'MRPS23P1', 'score': 0.77}, {'connected_gene': 'ENSG00000260997', 'score': 0.28}]
chr7	GH07I044915	44915083	44915379	0.89	[{'connected_gene': 'PURB', 'score': 14.08}, {'connected_gene': 'LINC01952', 'score': 12.09}, {'connected_gene': 'H2AFV', 'score': 12.09}, {'connected_gene': 'ENSG00000228596', 'score': 10.93}, {'connected_gene': 'MYO1G', 'score': 1.84}, {'connected_gene': 'ZMIZ2', 'score': 1.79}, {'connected_gene': 'OGDH', 'score': 1.74}, {'connected_gene': 'DDX56', 'score': 1.61}, {'connected_gene': 'CCM2', 'score': 1.39}, {'connected_gene': 'MRPS23P1', 'score': 0.77}, {'connected_gene': 'LOC105375262', 'score': 0.39}]
chr7	GH07I044795	44795369	44799513	2.1	[{'connected_gene': 'PPIA', 'score': 559.23}, {'connected_gene': 'GC07P044796', 'score': 550.77}, {'connected_gene': 'LOC105375259', 'score': 550.77}, {'connected_gene': 'GC07P044797', 'score': 550.77}, {'connected_gene': 'SEPT7P2', 'score': 28.27}, {'connected_gene': 'SNORA5C', 'score': 27.21}, {'connected_gene': 'POLM', 'score': 25.78}, {'connected_gene': 'DDX56', 'score': 23.65}, {'connected_gene': 'SNORA5B', 'score': 21.07}, {'connected_gene': 'ENSG00000228434', 'score': 19.42}, {'connected_gene': 'ZMIZ2', 'score': 19.14}, {'connected_gene': 'TBRG4', 'score': 18.44}, {'connected_gene': 'SPDYE1', 'score': 18.33}, {'connected_gene': 'H2AFV', 'score': 18.19}, {'connected_gene': 'LINC01952', 'score': 11.8}, {'connected_gene': 'SNORA5A', 'score': 11.54}, {'connected_gene': 'URGCP', 'score': 10.78}, {'connected_gene': 'TMED4', 'score': 10.48}, {'connected_gene': 'MYO1G', 'score': 10.48}, {'connected_gene': 'SNHG15', 'score': 9.72}, {'connected_gene': 'LOC105375260', 'score': 0.34}]
chr7	GH07I044628	44628409	44641999	1.81	[{'connected_gene': 'DDX56', 'score': 31.05}, {'connected_gene': 'OGDH', 'score': 22.15}, {'connected_gene': 'H2AFV', 'score': 21.75}, {'connected_gene': 'SNORA5C', 'score': 21.7}, {'connected_gene': 'PURB', 'score': 19.81}, {'connected_gene': 'SNORA5B', 'score': 19.34}, {'connected_gene': 'NACAD', 'score': 18.78}, {'connected_gene': 'NUDCD3', 'score': 13.99}, {'connected_gene': 'TMED4', 'score': 12.56}, {'connected_gene': 'ENSG00000228434', 'score': 12.36}, {'connected_gene': 'SPDYE1', 'score': 12.25}, {'connected_gene': 'MYO1G', 'score': 11.73}, {'connected_gene': 'ENSG00000228596', 'score': 11.49}, {'connected_gene': 'SNHG15', 'score': 10.99}, {'connected_gene': 'LINC01952', 'score': 10.91}, {'connected_gene': 'POLM', 'score': 10.23}, {'connected_gene': 'GCK', 'score': 9.78}, {'connected_gene': 'PPIA', 'score': 4.98}, {'connected_gene': 'CCM2', 'score': 2.48}, {'connected_gene': 'ZMIZ2', 'score': 2.07}, {'connected_gene': 'GC07M044657', 'score': 0.2}]
chr7	GH07I044646	44646333	44647123	0.63	[{'connected_gene': 'OGDH', 'score': 12.75}, {'connected_gene': 'ENSG00000228596', 'score': 10.81}, {'connected_gene': 'H2AFV', 'score': 10.76}, {'connected_gene': 'LINC01952', 'score': 10.76}, {'connected_gene': 'PPIA', 'score': 4.73}, {'connected_gene': 'GC07M044657', 'score': 0.22}]
chr7	GH07I044647	44647297	44649297	0.57	[{'connected_gene': 'OGDH', 'score': 12.75}, {'connected_gene': 'ENSG00000228596', 'score': 11.25}, {'connected_gene': 'H2AFV', 'score': 10.76}, {'connected_gene': 'LINC01952', 'score': 10.76}, {'connected_gene': 'PPIA', 'score': 4.73}, {'connected_gene': 'GC07M044657', 'score': 0.22}]
chr7	GH07I044642	44642941	44644093	0.31	[{'connected_gene': 'OGDH', 'score': 12.77}, {'connected_gene': 'ENSG00000228596', 'score': 10.81}, {'connected_gene': 'H2AFV', 'score': 10.76}, {'connected_gene': 'LINC01952', 'score': 10.76}, {'connected_gene': 'PPIA', 'score': 4.99}, {'connected_gene': 'GC07M044657', 'score': 0.21}]
chr7	GH07I044644	44644568	44646182	0.2	[{'connected_gene': 'OGDH', 'score': 12.77}, {'connected_gene': 'ENSG00000228596', 'score': 10.81}, {'connected_gene': 'H2AFV', 'score': 10.76}, {'connected_gene': 'LINC01952', 'score': 10.76}, {'connected_gene': 'NUDCD3', 'score': 5.0}, {'connected_gene': 'PPIA', 'score': 4.99}, {'connected_gene': 'DDX56', 'score': 4.63}, {'connected_gene': 'GC07M044657', 'score': 0.22}]
chr7	GH07I044845	44845500	44849667	2.12	[{'connected_gene': 'LINC01952', 'score': 550.77}, {'connected_gene': 'H2AFV', 'score': 550.77}, {'connected_gene': 'CICP20', 'score': 68.11}, {'connected_gene': 'DDX56', 'score': 46.55}, {'connected_gene': 'SNORA5C', 'score': 41.11}, {'connected_gene': 'POLM', 'score': 39.05}, {'connected_gene': 'SNORA5B', 'score': 32.01}, {'connected_gene': 'ENSG00000228434', 'score': 29.96}, {'connected_gene': 'SPDYE1', 'score': 28.7}, {'connected_gene': 'TMED4', 'score': 22.39}, {'connected_gene': 'SNHG15', 'score': 20.77}, {'connected_gene': 'SNORA5A', 'score': 20.11}, {'connected_gene': 'TBRG4', 'score': 18.45}, {'connected_gene': 'URGCP', 'score': 12.0}, {'connected_gene': 'SEPT7P2', 'score': 10.15}, {'connected_gene': 'PURB', 'score': 10.04}, {'connected_gene': 'PPIA', 'score': 7.12}, {'connected_gene': 'ZMIZ2', 'score': 5.98}, {'connected_gene': 'PIR39901', 'score': 0.37}]
chr7	GH07I044809	44809062	44809211	0.78	[{'connected_gene': 'ENSG00000228596', 'score': 12.67}, {'connected_gene': 'H2AFV', 'score': 11.64}, {'connected_gene': 'LINC01952', 'score': 11.64}, {'connected_gene': 'ZMIZ2', 'score': 6.11}, {'connected_gene': 'GC07P044797', 'score': 0.39}, {'connected_gene': 'GC07P044796', 'score': 0.39}, {'connected_gene': 'PPIA', 'score': 0.39}, {'connected_gene': 'LOC105375260', 'score': 0.39}]
chr7	GH07I044725	44725246	44725552	0.25	[{'connected_gene': 'ENSG00000228596', 'score': 11.61}, {'connected_gene': 'H2AFV', 'score': 10.69}, {'connected_gene': 'LINC01952', 'score': 10.69}, {'connected_gene': 'ZMIZ2', 'score': 5.96}, {'connected_gene': 'RAMP3', 'score': 1.72}, {'connected_gene': 'GC07M044657', 'score': 0.34}, {'connected_gene': 'GC07P044747', 'score': 0.34}]
chr7	GH07I044726	44726863	44728402	0.69	[{'connected_gene': 'ENSG00000228596', 'score': 11.62}, {'connected_gene': 'H2AFV', 'score': 10.69}, {'connected_gene': 'LINC01952', 'score': 10.69}, {'connected_gene': 'ZMIZ2', 'score': 6.36}, {'connected_gene': 'GC07P044747', 'score': 0.37}, {'connected_gene': 'GC07M044657', 'score': 0.34}]
chr7	GH07I044880	44880217	44889973	2.29	[{'connected_gene': 'PIR54023', 'score': 550.77}, {'connected_gene': 'PURB', 'score': 550.77}, {'connected_gene': 'ENSG00000272768', 'score': 550.77}, {'connected_gene': 'H2AFV', 'score': 18.46}, {'connected_gene': 'LINC01952', 'score': 12.07}, {'connected_gene': 'SNHG15', 'score': 11.59}, {'connected_gene': 'MYO1G', 'score': 11.39}, {'connected_gene': 'ENSG00000228596', 'score': 11.05}, {'connected_gene': 'PPIA', 'score': 9.17}, {'connected_gene': 'ZMIZ2', 'score': 6.78}, {'connected_gene': 'MIR4657', 'score': 0.77}]
chr7	GH07I044856	44856562	44857671	1.06	[{'connected_gene': 'ENSG00000228596', 'score': 11.49}, {'connected_gene': 'PPIA', 'score': 8.51}, {'connected_gene': 'H2AFV', 'score': 5.26}, {'connected_gene': 'GC07P044861', 'score': 0.77}, {'connected_gene': 'LINC01952', 'score': 0.44}]
chr7	GH07I044866	44866765	44868336	1.05	[{'connected_gene': 'ENSG00000228596', 'score': 11.19}, {'connected_gene': 'PPIA', 'score': 9.17}, {'connected_gene': 'H2AFV', 'score': 6.56}, {'connected_gene': 'GC07P044861', 'score': 0.44}, {'connected_gene': 'GC07M044876', 'score': 0.39}]
chr7	GH07I044844	44844801	44845000	0.38	[{'connected_gene': 'ENSG00000228596', 'score': 11.62}, {'connected_gene': 'PPIA', 'score': 9.24}, {'connected_gene': 'H2AFV', 'score': 0.77}, {'connected_gene': 'PIR39901', 'score': 0.39}]
chr7	GH07I044890	44890526	44893186	0.62	[{'connected_gene': 'PIR53562', 'score': 550.77}, {'connected_gene': 'LINC01952', 'score': 11.87}, {'connected_gene': 'H2AFV', 'score': 11.87}, {'connected_gene': 'MYO1G', 'score': 10.96}, {'connected_gene': 'ENSG00000228596', 'score': 10.73}, {'connected_gene': 'ZMIZ2', 'score': 6.05}, {'connected_gene': 'DDX56', 'score': 5.75}, {'connected_gene': 'CCM2', 'score': 1.24}, {'connected_gene': 'LOC105375262', 'score': 0.39}]