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

Promoter

Chrom	Start	End	Description
chr12	70132458	70132488	CAGE_peak_8_at_RAB3IP_5end
chr12	70132560	70132578	CAGE_peak_3_at_RAB3IP_5end
chr12	70132632	70132687	CAGE_peak_1_at_RAB3IP_5end
chr12	70132688	70132699	CAGE_peak_2_at_RAB3IP_5end
chr12	70133152	70133182	CAGE_peak_4_at_RAB3IP_5end
chr12	70133441	70133479	CAGE_peak_6_at_RAB3IP_5end
chr12	70149386	70149402	CAGE_peak_7_at_RAB3IP_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I070240	70240232	70240616	0.35	[{'connected_gene': 'CNOT2', 'score': 4.48}, {'connected_gene': 'KCNMB4', 'score': 2.83}, {'connected_gene': 'RAB3IP', 'score': 2.05}, {'connected_gene': 'LINC01481', 'score': 0.77}, {'connected_gene': 'ENSG00000257815', 'score': 0.77}, {'connected_gene': 'GC12P070238', 'score': 0.77}]
chr12	GH12I070255	70255048	70255255	0.34	[{'connected_gene': 'CNOT2', 'score': 2.19}, {'connected_gene': 'RAB3IP', 'score': 1.86}, {'connected_gene': 'LINC01481', 'score': 0.39}, {'connected_gene': 'ENSG00000257815', 'score': 0.39}, {'connected_gene': 'ENSG00000279530', 'score': 0.2}]
chr12	GH12I070048	70048613	70051375	0.97	[{'connected_gene': 'KCNMB4', 'score': 10.47}, {'connected_gene': 'ENSG00000257815', 'score': 9.91}, {'connected_gene': 'LOC105369826', 'score': 7.7}, {'connected_gene': 'RAB3IP', 'score': 5.19}, {'connected_gene': 'LINC01481', 'score': 5.16}, {'connected_gene': 'LOC100125409', 'score': 0.21}, {'connected_gene': 'ENSG00000257241', 'score': 0.15}]
chr12	GH12I069824	69824777	69827384	0.31	[{'connected_gene': 'MYRFL', 'score': 550.77}, {'connected_gene': 'RAB3IP', 'score': 11.76}, {'connected_gene': 'LOC101928002', 'score': 9.64}, {'connected_gene': 'ENSG00000258052', 'score': 0.34}, {'connected_gene': 'ENSG00000257241', 'score': 0.13}]
chr12	GH12I069833	69833304	69839036	0.52	[{'connected_gene': 'MYRFL', 'score': 27.03}, {'connected_gene': 'RAB3IP', 'score': 11.48}, {'connected_gene': 'ENSG00000258052', 'score': 0.29}, {'connected_gene': 'ENSG00000257241', 'score': 0.14}]
chr12	GH12I069655	69655003	69658858	1.08	[{'connected_gene': 'BEST3', 'score': 30.12}, {'connected_gene': 'RAB3IP', 'score': 16.67}, {'connected_gene': 'LRRC10', 'score': 12.03}, {'connected_gene': 'LOC101928002', 'score': 11.37}, {'connected_gene': 'ENSG00000279551', 'score': 0.77}, {'connected_gene': 'LOC105369823', 'score': 0.29}]
chr12	GH12I069648	69648121	69649409	0.59	[{'connected_gene': 'BEST3', 'score': 10.09}, {'connected_gene': 'RAB3IP', 'score': 8.38}, {'connected_gene': 'ENSG00000279551', 'score': 0.39}, {'connected_gene': 'LOC105369823', 'score': 0.34}]
chr12	GH12I069685	69685524	69690997	1.56	[{'connected_gene': 'BEST3', 'score': 571.61}, {'connected_gene': 'RAB3IP', 'score': 21.1}, {'connected_gene': 'LOC101928002', 'score': 11.35}, {'connected_gene': 'LYZ', 'score': 9.84}, {'connected_gene': 'MDM2', 'score': 4.27}, {'connected_gene': 'ENSG00000279551', 'score': 0.31}]
chr12	GH12I069698	69698305	69699997	0.99	[{'connected_gene': 'BEST3', 'score': 572.15}, {'connected_gene': 'RAB3IP', 'score': 9.22}, {'connected_gene': 'ENSG00000279551', 'score': 0.28}]
chr12	GH12I069894	69894679	69899125	0.6	[{'connected_gene': 'RAB3IP', 'score': 7.38}, {'connected_gene': 'MYRFL', 'score': 5.79}, {'connected_gene': 'CNOT2', 'score': 4.88}, {'connected_gene': 'ENSG00000257241', 'score': 0.23}]
chr12	GH12I069918	69918995	69920932	0.31	[{'connected_gene': 'RAB3IP', 'score': 6.79}, {'connected_gene': 'MYRFL', 'score': 6.37}, {'connected_gene': 'ENSG00000257241', 'score': 0.31}, {'connected_gene': 'ENSG00000257815', 'score': 0.05}]
chr12	GH12I069916	69916481	69917593	0.2	[{'connected_gene': 'RAB3IP', 'score': 4.78}, {'connected_gene': 'ENSG00000257241', 'score': 0.29}, {'connected_gene': 'MYRFL', 'score': 0.16}, {'connected_gene': 'ENSG00000257815', 'score': 0.05}]
chr12	GH12I069885	69885601	69886000	0.38	[{'connected_gene': 'RAB3IP', 'score': 6.17}, {'connected_gene': 'MYRFL', 'score': 0.21}, {'connected_gene': 'ENSG00000257241', 'score': 0.21}]
chr12	GH12I069890	69890516	69891536	0.43	[{'connected_gene': 'RAB3IP', 'score': 7.3}, {'connected_gene': 'ENSG00000257241', 'score': 0.22}, {'connected_gene': 'MYRFL', 'score': 0.2}]
chr12	GH12I069906	69906541	69906690	0.57	[{'connected_gene': 'RAB3IP', 'score': 6.86}, {'connected_gene': 'ENSG00000257241', 'score': 0.26}, {'connected_gene': 'MYRFL', 'score': 0.18}, {'connected_gene': 'ENSG00000257815', 'score': 0.05}]
chr12	GH12I069873	69873160	69873844	0.54	[{'connected_gene': 'RAB3IP', 'score': 8.83}, {'connected_gene': 'MYRFL', 'score': 0.25}, {'connected_gene': 'ENSG00000257241', 'score': 0.19}]
chr12	GH12I069903	69903703	69905684	0.31	[{'connected_gene': 'RAB3IP', 'score': 7.39}, {'connected_gene': 'ENSG00000257241', 'score': 0.26}, {'connected_gene': 'MYRFL', 'score': 0.18}, {'connected_gene': 'ENSG00000257815', 'score': 0.05}]
chr12	GH12I069778	69778931	69778990	0.5	[{'connected_gene': 'RAB3IP', 'score': 550.26}, {'connected_gene': 'ENSG00000258052', 'score': 0.34}, {'connected_gene': 'LOC101928002', 'score': 0.26}]
chr12	GH12I069762	69762918	69763161	0.22	[{'connected_gene': 'RAB3IP', 'score': 0.34}, {'connected_gene': 'LOC101928002', 'score': 0.34}, {'connected_gene': 'ENSG00000258052', 'score': 0.28}]
chr12	GH12I069238	69238484	69241576	2.3	[{'connected_gene': 'CPSF6', 'score': 559.71}, {'connected_gene': 'LYZ', 'score': 23.47}, {'connected_gene': 'RAP1B', 'score': 13.28}, {'connected_gene': 'NUP107', 'score': 10.24}, {'connected_gene': 'MDM2', 'score': 8.14}, {'connected_gene': 'YEATS4', 'score': 8.13}, {'connected_gene': 'FRS2', 'score': 7.94}, {'connected_gene': 'CCT2', 'score': 6.82}, {'connected_gene': 'SLC35E3', 'score': 3.65}, {'connected_gene': 'RAB3IP', 'score': 3.6}, {'connected_gene': 'GC12P069269', 'score': 0.31}]
chr12	GH12I069900	69900261	69902065	0.98	[{'connected_gene': 'CPSF6', 'score': 10.27}, {'connected_gene': 'FRS2', 'score': 9.95}, {'connected_gene': 'RAB3IP', 'score': 6.71}, {'connected_gene': 'MYRFL', 'score': 5.78}, {'connected_gene': 'ENSG00000257241', 'score': 0.25}]
chr12	GH12I069994	69994062	69995358	0.77	[{'connected_gene': 'CCT2', 'score': 13.44}, {'connected_gene': 'MYRFL', 'score': 7.16}, {'connected_gene': 'ENSG00000257815', 'score': 6.65}, {'connected_gene': 'RAB3IP', 'score': 1.48}, {'connected_gene': 'ENSG00000257241', 'score': 0.25}, {'connected_gene': 'LOC100125409', 'score': 0.13}]
chr12	GH12I069986	69986999	69989746	1.2	[{'connected_gene': 'CCT2', 'score': 21.34}, {'connected_gene': 'MYRFL', 'score': 8.32}, {'connected_gene': 'ENSG00000257815', 'score': 7.4}, {'connected_gene': 'RAB3IP', 'score': 2.1}, {'connected_gene': 'ENSG00000257241', 'score': 0.26}, {'connected_gene': 'LOC100125409', 'score': 0.13}]
chr12	GH12I069474	69474420	69476417	1.17	[{'connected_gene': 'CCT2', 'score': 16.73}, {'connected_gene': 'FRS2', 'score': 12.88}, {'connected_gene': 'LYZ', 'score': 9.86}, {'connected_gene': 'CPSF6', 'score': 6.87}, {'connected_gene': 'YEATS4', 'score': 6.67}, {'connected_gene': 'RAB3IP', 'score': 1.55}, {'connected_gene': 'GC12P069484', 'score': 0.44}, {'connected_gene': 'GC12P069483', 'score': 0.44}]
chr12	GH12I069619	69619509	69619530	0.23	[{'connected_gene': 'CCT2', 'score': 20.04}, {'connected_gene': 'FRS2', 'score': 19.78}, {'connected_gene': 'CPSF6', 'score': 19.26}, {'connected_gene': 'YEATS4', 'score': 18.54}, {'connected_gene': 'LYZ', 'score': 10.65}, {'connected_gene': 'RAB3IP', 'score': 2.06}, {'connected_gene': 'LOC105369823', 'score': 0.77}, {'connected_gene': 'LRRC10', 'score': 0.44}]
chr12	GH12I069738	69738201	69740706	1.98	[{'connected_gene': 'LOC101928002', 'score': 566.5}, {'connected_gene': 'RAB3IP', 'score': 563.05}, {'connected_gene': 'MYRFL', 'score': 22.49}, {'connected_gene': 'CPSF6', 'score': 11.46}, {'connected_gene': 'ENSG00000257815', 'score': 11.45}, {'connected_gene': 'ENSG00000258052', 'score': 0.21}]
chr12	GH12I069840	69840167	69842033	0.46	[{'connected_gene': 'LOC101928002', 'score': 19.11}, {'connected_gene': 'RAB3IP', 'score': 10.97}, {'connected_gene': 'MYRFL', 'score': 10.48}, {'connected_gene': 'ENSG00000258052', 'score': 0.28}, {'connected_gene': 'ENSG00000257241', 'score': 0.14}]
chr12	GH12I069990	69990767	69992624	0.52	[{'connected_gene': 'ENSG00000257815', 'score': 7.32}, {'connected_gene': 'MYRFL', 'score': 6.36}, {'connected_gene': 'RAB3IP', 'score': 5.31}, {'connected_gene': 'ENSG00000257241', 'score': 0.26}, {'connected_gene': 'LOC100125409', 'score': 0.13}]
chr12	GH12I069779	69779981	69780130	0.56	[{'connected_gene': 'ENSG00000258052', 'score': 0.34}, {'connected_gene': 'RAB3IP', 'score': 0.26}, {'connected_gene': 'LOC101928002', 'score': 0.26}]
chr12	GH12I069965	69965396	69968225	0.96	[{'connected_gene': 'ENSG00000257815', 'score': 7.41}, {'connected_gene': 'RAB3IP', 'score': 4.35}, {'connected_gene': 'ENSG00000257241', 'score': 0.37}, {'connected_gene': 'LOC100125409', 'score': 0.11}]
chr12	GH12I069821	69821601	69822442	0.82	[{'connected_gene': 'PIR46822', 'score': 550.77}, {'connected_gene': 'LOC101928002', 'score': 18.65}, {'connected_gene': 'RAB3IP', 'score': 12.97}, {'connected_gene': 'MYRFL', 'score': 0.77}, {'connected_gene': 'ENSG00000258052', 'score': 0.34}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000247833	[[70132460, 70132811], [70149163, 70149439], [70150184, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70193988, 70194117], [70195388, 70195501], [70206557, 70206657], [70206743, 70206813], [70209143, 70211157]]	[[70149188, 70149439], [70150184, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70193988, 70194117], [70195388, 70195501], [70206557, 70206657], [70206743, 70206813], [70209143, 70209226]]
ENST00000378815	[[70132641, 70132811], [70149163, 70149439], [70150184, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70190427]]	[[70149188, 70149439], [70150184, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70189184]]
ENST00000325555	[[70132641, 70132811], [70149163, 70149439], [70150184, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70193988, 70194117], [70195388, 70195501], [70206557, 70206657], [70206743, 70206813], [70209143, 70209503]]	[[70188228, 70188294], [70188920, 70189124], [70193988, 70194117], [70195388, 70195501], [70206557, 70206657], [70206743, 70206813], [70209143, 70209226]]
ENST00000483530	[[70132641, 70132811], [70149163, 70149439], [70150184, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70193988, 70194117], [70195388, 70195501], [70206743, 70206813], [70209143, 70209503]]	[[70149188, 70149439], [70150184, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70193988, 70194117], [70195388, 70195501], [70206743, 70206801]]
ENST00000417413	[[70132641, 70132811], [70149163, 70149439], [70150184, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70206557, 70206657], [70206743, 70206813], [70209143, 70209503]]	[[70149188, 70149439], [70150184, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70206557, 70206584]]
ENST00000549760	[[70132888, 70132946], [70149163, 70149439], [70150184, 70150430]]	[[70149188, 70149439], [70150184, 70150430]]
ENST00000550536	[[70133169, 70133649], [70149163, 70149439], [70150184, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70193988, 70194117], [70195388, 70195501], [70206557, 70206657], [70206743, 70206813], [70209143, 70216984]]	[[70133626, 70133649], [70149163, 70149439], [70150184, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70193988, 70194117], [70195388, 70195501], [70206557, 70206657], [70206743, 70206813], [70209143, 70209226]]
ENST00000378809	[[70133179, 70133649], [70149163, 70149439], [70150184, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70193988, 70194112], [70195388, 70195501], [70206743, 70206813], [70209143, 70209461]]	[[70133626, 70133649], [70149163, 70149439], [70150184, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70193988, 70194112], [70195388, 70195438]]
ENST00000362025	[[70133179, 70133649], [70149163, 70149439], [70150184, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70193988, 70194117], [70195388, 70195501], [70206743, 70206813], [70209143, 70209503]]	[[70133626, 70133649], [70149163, 70149439], [70150184, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70193988, 70194117], [70195388, 70195501], [70206743, 70206801]]
ENST00000552199	[[70133187, 70133649], [70149163, 70149439], [70150184, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70206557, 70206657], [70206743, 70206813], [70209143, 70209503]]	[[70133626, 70133649], [70149163, 70149439], [70150184, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70206557, 70206584]]
ENST00000547591	[[70149161, 70149258], [70149350, 70149439], [70150184, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70188996]]	[[70149161, 70149225]]
ENST00000550647	[[70150265, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70193988, 70194117], [70206557, 70206614]]	[[70150265, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70193988, 70194117], [70206557, 70206584]]
ENST00000547055	[[70150302, 70150443], [70178499, 70178796]]	[[70150302, 70150443], [70178499, 70178634]]
ENST00000551641	[[70172729, 70172961], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70193988, 70194117], [70195388, 70195501], [70206557, 70206657], [70206743, 70206813], [70209143, 70210961]]	[[70188228, 70188294], [70188920, 70189124], [70193988, 70194117], [70195388, 70195501], [70206557, 70206657], [70206743, 70206813], [70209143, 70209226]]
ENST00000553099	[[70172746, 70172876], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70193988, 70194117], [70195388, 70195501], [70206557, 70206657], [70206743, 70206813], [70209143, 70210897]]	[[70188228, 70188294], [70188920, 70189124], [70193988, 70194117], [70195388, 70195501], [70206557, 70206657], [70206743, 70206813], [70209143, 70209226]]
ENST00000526994	[[70189041, 70189124], [70193988, 70194117], [70195388, 70195501], [70206557, 70206813], [70209143, 70209505]]	[[70189041, 70189124], [70193988, 70194117], [70195388, 70195501], [70206557, 70206801]]
ENST00000550847	[[70190352, 70190423], [70193988, 70194117], [70195388, 70195501], [70206557, 70206657], [70206743, 70206813], [70209143, 70209330]]	[[70190414, 70190423], [70193988, 70194117], [70195388, 70195501], [70206557, 70206657], [70206743, 70206813], [70209143, 70209226]]
ENST00000481897	[[70205824, 70206813], [70209143, 70211157]]	None
ENST00000552610	[[70206490, 70206657], [70206743, 70206813], [70209143, 70209464]]	None
NR_103519	[[70132465, 70132811], [70149163, 70149439], [70150184, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70206557, 70206657], [70206743, 70206813], [70209143, 70216984]]	None
NM_175624	[[70132465, 70132811], [70149163, 70149439], [70150184, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70193988, 70194117], [70195388, 70195501], [70206743, 70206813], [70209143, 70216984]]	[[70149188, 70149439], [70150184, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70193988, 70194117], [70195388, 70195501], [70206743, 70206801]]
NM_022456	[[70132465, 70132811], [70149163, 70149439], [70150184, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70193988, 70194117], [70195388, 70195501], [70206557, 70206657], [70206743, 70206813], [70209143, 70216984]]	[[70149188, 70149439], [70150184, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70193988, 70194117], [70195388, 70195501], [70206557, 70206657], [70206743, 70206813], [70209143, 70209226]]
NR_103520	[[70133169, 70133649], [70149163, 70149439], [70150184, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70206557, 70206657], [70206743, 70206813], [70209143, 70216984]]	None
NM_175625	[[70133169, 70133649], [70149163, 70149439], [70150184, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70193988, 70194117], [70195388, 70195501], [70206743, 70206813], [70209143, 70216984]]	[[70133626, 70133649], [70149163, 70149439], [70150184, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70193988, 70194117], [70195388, 70195501], [70206743, 70206801]]
NM_175623	[[70133169, 70133649], [70149163, 70149439], [70150184, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70193988, 70194117], [70195388, 70195501], [70206557, 70206657], [70206743, 70206813], [70209143, 70216984]]	[[70133626, 70133649], [70149163, 70149439], [70150184, 70150443], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70193988, 70194117], [70195388, 70195501], [70206557, 70206657], [70206743, 70206813], [70209143, 70209226]]
NM_001278402	[[70172731, 70172876], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70193988, 70194117], [70195388, 70195501], [70206557, 70206657], [70206743, 70206813], [70209143, 70216984]]	[[70188228, 70188294], [70188920, 70189124], [70193988, 70194117], [70195388, 70195501], [70206557, 70206657], [70206743, 70206813], [70209143, 70209226]]
NM_001024647	[[70172731, 70172961], [70178499, 70178595], [70188216, 70188294], [70188920, 70189124], [70193988, 70194117], [70195388, 70195501], [70206557, 70206657], [70206743, 70206813], [70209143, 70216984]]	[[70188228, 70188294], [70188920, 70189124], [70193988, 70194117], [70195388, 70195501], [70206557, 70206657], [70206743, 70206813], [70209143, 70209226]]