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
ENST00000371522	[[53361655, 53362269], [53363108, 53363156], [53364845, 53364896], [53370317, 53370505], [53370705, 53370762], [53372190, 53372283], [53373539, 53373626], [53377237, 53377325], [53377394, 53377462], [53387224, 53387439]]	[[53362191, 53362269], [53363108, 53363156], [53364845, 53364896], [53370317, 53370505], [53370705, 53370762], [53372190, 53372283], [53373539, 53373626], [53377237, 53377325], [53377394, 53377462], [53387224, 53387345]]
ENST00000460612	[[53361894, 53362269], [53364845, 53364896], [53370317, 53370505], [53370705, 53372283], [53373539, 53373626], [53377237, 53377325], [53377394, 53377462], [53387224, 53387434]]	None
ENST00000539680	[[53361896, 53367713]]	None
ENST00000479183	[[53361903, 53362269], [53363108, 53364896], [53370317, 53370519]]	None
ENST00000543419	[[53361903, 53362269], [53363108, 53363156], [53364845, 53364896], [53377237, 53377327]]	None
ENST00000463923	[[53361903, 53362269], [53363108, 53363156], [53364845, 53364896], [53373539, 53373626], [53377237, 53377348]]	None
ENST00000371520	[[53361903, 53362269], [53363108, 53363156], [53364845, 53364896], [53370317, 53370505], [53370705, 53370762], [53373539, 53373626], [53377237, 53377325], [53377394, 53377693], [53379566, 53379767], [53387154, 53387375]]	[[53379760, 53379767], [53387154, 53387345]]
ENST00000358358	[[53361904, 53362269], [53363108, 53363156], [53364845, 53364896], [53370317, 53370505], [53370705, 53370762], [53373539, 53373626], [53377237, 53377325], [53377394, 53377462], [53387224, 53387398]]	[[53362191, 53362269], [53363108, 53363156], [53364845, 53364896], [53370317, 53370505], [53370705, 53370762], [53373539, 53373626], [53377237, 53377325], [53377394, 53377462], [53387224, 53387345]]
ENST00000498544	[[53361910, 53362269], [53363108, 53363156], [53364845, 53364896], [53370317, 53370844]]	None
ENST00000476477	[[53362074, 53362269], [53363108, 53363156], [53364845, 53364896], [53370317, 53370505], [53370705, 53370762], [53372190, 53372283], [53373539, 53373626], [53377237, 53377325], [53377394, 53377462], [53379566, 53379767], [53380802, 53380964], [53387224, 53387591], [53392780, 53392851]]	[[53380938, 53380964], [53387224, 53387345]]
ENST00000536120	[[53362074, 53362269], [53363108, 53363156], [53364845, 53364896], [53370317, 53370505], [53370705, 53370762], [53372190, 53372283], [53373539, 53373626], [53377237, 53377325], [53377394, 53377462], [53379566, 53379767], [53380802, 53380964], [53387224, 53387591], [53392780, 53392851]]	[[53362191, 53362269], [53363108, 53363156], [53364845, 53364896], [53370317, 53370505], [53370705, 53370762], [53372190, 53372283], [53373539, 53373626], [53377237, 53377325], [53377394, 53377445]]
ENST00000479593	[[53362219, 53362269], [53363108, 53363156], [53364845, 53364896], [53370317, 53370505], [53370705, 53370762], [53372190, 53372283], [53373539, 53373626], [53377237, 53377325], [53377394, 53377462], [53379566, 53379602]]	None
ENST00000467988	[[53363108, 53363156], [53370317, 53370505], [53370705, 53370762], [53373539, 53373626], [53377237, 53377325], [53377394, 53377462], [53387224, 53387390]]	[[53363108, 53363156], [53370317, 53370505], [53370705, 53370762], [53373539, 53373626], [53377237, 53377325], [53377394, 53377462], [53387224, 53387345]]
ENST00000487866	[[53364845, 53364896], [53370317, 53370505], [53370705, 53370762], [53372190, 53372283], [53373539, 53373626], [53377237, 53377325], [53377394, 53377693], [53378425, 53378502]]	None
ENST00000486170	[[53364848, 53364896], [53370317, 53370505], [53370705, 53370762], [53372190, 53372283], [53372685, 53372773]]	None
ENST00000487851	[[53370460, 53370505], [53373539, 53373626], [53377237, 53377325], [53377394, 53377462], [53379566, 53379749]]	None
ENST00000541281	[[53371692, 53372283], [53373539, 53373626], [53377237, 53377325], [53377394, 53377462], [53379566, 53379767], [53387224, 53387376]]	[[53372125, 53372283], [53373539, 53373626], [53377237, 53377325], [53377394, 53377445]]
ENST00000488268	[[53372983, 53373321], [53373539, 53373626], [53377237, 53377325], [53377394, 53377462], [53387154, 53387204]]	None
ENST00000544365	[[53373119, 53373626], [53377237, 53377325], [53377394, 53377462], [53379566, 53379767], [53387224, 53387591], [53392780, 53392884]]	[[53379738, 53379767], [53387224, 53387345]]
ENST00000495920	[[53373270, 53373321], [53373539, 53373626], [53377237, 53377325], [53377394, 53377462], [53387224, 53387386]]	None
ENST00000492992	[[53373510, 53373626], [53377237, 53377325], [53377394, 53377560]]	None
ENST00000480312	[[53377235, 53377325], [53377394, 53377693], [53378425, 53378521], [53379566, 53379767], [53387069, 53387187]]	None
ENST00000544531	[[53377235, 53377325], [53377394, 53377462], [53379566, 53379767], [53387069, 53387258]]	None
ENST00000493896	[[53377270, 53377325], [53377394, 53377462], [53378425, 53379016]]	None
ENST00000487040	[[53377271, 53377325], [53377394, 53377897]]	None
ENST00000542552	[[53379091, 53379767], [53383215, 53383287], [53387224, 53387457]]	[[53383276, 53383287], [53387224, 53387345]]
ENST00000474789	[[53379391, 53379767], [53387224, 53387393]]	None
NM_001198961	[[53361581, 53362269], [53363108, 53363156], [53364845, 53364896], [53370317, 53370505], [53370705, 53370762], [53372190, 53372283], [53373539, 53373626], [53377237, 53377325], [53377394, 53377462], [53387224, 53387446]]	[[53362191, 53362269], [53363108, 53363156], [53364845, 53364896], [53370317, 53370505], [53370705, 53370762], [53372190, 53372283], [53373539, 53373626], [53377237, 53377325], [53377394, 53377462], [53387224, 53387345]]
NM_018281	[[53361581, 53362269], [53363108, 53363156], [53364845, 53364896], [53370317, 53370505], [53370705, 53370762], [53373539, 53373626], [53377237, 53377325], [53377394, 53377462], [53387224, 53387446]]	[[53362191, 53362269], [53363108, 53363156], [53364845, 53364896], [53370317, 53370505], [53370705, 53370762], [53373539, 53373626], [53377237, 53377325], [53377394, 53377462], [53387224, 53387345]]
NM_001198962	[[53361581, 53362269], [53363108, 53363156], [53370317, 53370505], [53370705, 53370762], [53373539, 53373626], [53377237, 53377325], [53377394, 53377462], [53387224, 53387446]]	[[53362191, 53362269], [53363108, 53363156], [53370317, 53370505], [53370705, 53370762], [53373539, 53373626], [53377237, 53377325], [53377394, 53377462], [53387224, 53387345]]
NM_001319958	[[53361581, 53362269], [53363108, 53363156], [53364845, 53364896], [53370317, 53370505], [53370705, 53370762], [53373539, 53373626], [53377237, 53377325], [53377394, 53377693], [53379566, 53379767], [53387154, 53387457]]	[[53362191, 53362269], [53363108, 53363156], [53364845, 53364896], [53370317, 53370505], [53370705, 53370762], [53373539, 53373626], [53377237, 53377325], [53377394, 53377445]]

Promoter

Chrom	Start	End	Description
chr1	53372035	53372042	CAGE_peak_10_at_ECHDC2_5end
chr1	53377301	53377310	CAGE_peak_8_at_ECHDC2_5end
chr1	53377312	53377325	CAGE_peak_5_at_ECHDC2_5end
chr1	53377526	53377538	CAGE_peak_16_at_ECHDC2_5end
chr1	53378788	53378797	CAGE_peak_11_at_ECHDC2_5end
chr1	53378822	53378835	CAGE_peak_4_at_ECHDC2_5end
chr1	53387184	53387218	CAGE_peak_3_at_ECHDC2_5end
chr1	53387352	53387384	CAGE_peak_2_at_ECHDC2_5end
chr1	53387386	53387453	CAGE_peak_1_at_ECHDC2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I052725	52725800	52728001	2.04	[{'connected_gene': 'ZYG11B', 'score': 560.96}, {'connected_gene': 'PRPF38A', 'score': 19.43}, {'connected_gene': 'ORC1', 'score': 17.08}, {'connected_gene': 'MAGOH', 'score': 13.86}, {'connected_gene': 'RPS13P2', 'score': 12.36}, {'connected_gene': 'ECHDC2', 'score': 11.64}, {'connected_gene': 'ENSG00000230953', 'score': 11.38}, {'connected_gene': 'ENSG00000266993', 'score': 10.61}, {'connected_gene': 'ZYG11A', 'score': 4.32}, {'connected_gene': 'GC01P052729', 'score': 0.77}]
chr1	GH01I052697	52697047	52699251	2.09	[{'connected_gene': 'COA7', 'score': 560.38}, {'connected_gene': 'GC01P052696', 'score': 550.77}, {'connected_gene': 'ZCCHC11', 'score': 28.3}, {'connected_gene': 'MAGOH', 'score': 27.35}, {'connected_gene': 'KTI12', 'score': 13.89}, {'connected_gene': 'PRPF38A', 'score': 12.98}, {'connected_gene': 'ENSG00000230953', 'score': 12.3}, {'connected_gene': 'ENSG00000272100', 'score': 12.0}, {'connected_gene': 'ENSG00000266993', 'score': 11.53}, {'connected_gene': 'ZFYVE9', 'score': 11.42}, {'connected_gene': 'ORC1', 'score': 10.83}, {'connected_gene': 'ZYG11B', 'score': 10.11}, {'connected_gene': 'ECHDC2', 'score': 9.97}]
chr1	GH01I053046	53046789	53048747	1.07	[{'connected_gene': 'SLC1A7', 'score': 7.45}, {'connected_gene': 'ECHDC2', 'score': 6.84}, {'connected_gene': 'NDC1', 'score': 5.21}, {'connected_gene': 'SCP2', 'score': 4.94}, {'connected_gene': 'HSPB11', 'score': 4.21}, {'connected_gene': 'GC01P053051', 'score': 0.77}, {'connected_gene': 'GC01P053008', 'score': 0.28}]
chr1	GH01I053835	53835064	53839200	2.12	[{'connected_gene': 'NDC1', 'score': 563.15}, {'connected_gene': 'MAGOH', 'score': 45.35}, {'connected_gene': 'SSBP3-AS1', 'score': 36.53}, {'connected_gene': 'HSPB11', 'score': 33.21}, {'connected_gene': 'LRRC42', 'score': 21.47}, {'connected_gene': 'ECHDC2', 'score': 18.27}, {'connected_gene': 'ENSG00000256407', 'score': 12.79}, {'connected_gene': 'CYB5RL', 'score': 12.55}, {'connected_gene': 'C1orf123', 'score': 10.3}, {'connected_gene': 'ENSG00000279049', 'score': 9.9}, {'connected_gene': 'ENSG00000230953', 'score': 9.82}, {'connected_gene': 'TTC4', 'score': 9.72}, {'connected_gene': 'TMEM59', 'score': 9.67}, {'connected_gene': 'TCEANC2', 'score': 9.67}, {'connected_gene': 'ENSG00000237453', 'score': 9.09}, {'connected_gene': 'TTC22', 'score': 9.09}, {'connected_gene': 'YIPF1', 'score': 6.06}, {'connected_gene': 'LRP8', 'score': 4.73}, {'connected_gene': 'ENSG00000201003', 'score': 0.2}, {'connected_gene': 'GC01M053772', 'score': 0.2}]
chr1	GH01I052867	52867044	52868112	0.66	[{'connected_gene': 'ECHDC2', 'score': 11.32}, {'connected_gene': 'ZYG11B', 'score': 10.01}, {'connected_gene': 'SLC1A7', 'score': 5.86}, {'connected_gene': 'PIR36649', 'score': 0.39}, {'connected_gene': 'ENSG00000242391', 'score': 0.39}, {'connected_gene': 'ZYG11A', 'score': 0.31}]
chr1	GH01I052920	52920368	52922338	1.9	[{'connected_gene': 'ECHDC2', 'score': 560.54}, {'connected_gene': 'ENSG00000230953', 'score': 550.77}, {'connected_gene': 'ZYG11B', 'score': 6.92}, {'connected_gene': 'LOC100652967', 'score': 0.77}]
chr1	GH01I052917	52917271	52917672	0.2	[{'connected_gene': 'ECHDC2', 'score': 6.26}, {'connected_gene': 'SLC1A7', 'score': 5.62}, {'connected_gene': 'ENSG00000230953', 'score': 0.77}, {'connected_gene': 'PIR50883', 'score': 0.37}]
chr1	GH01I052903	52903489	52903839	0.34	[{'connected_gene': 'ECHDC2', 'score': 19.69}, {'connected_gene': 'SCP2', 'score': 14.49}, {'connected_gene': 'LOC100652967', 'score': 12.34}, {'connected_gene': 'ZYG11B', 'score': 7.57}, {'connected_gene': 'COA7', 'score': 7.42}, {'connected_gene': 'PIR50883', 'score': 0.44}, {'connected_gene': 'ENSG00000230953', 'score': 0.37}]
chr1	GH01I052969	52969846	52970975	0.49	[{'connected_gene': 'ECHDC2', 'score': 26.86}, {'connected_gene': 'SCP2', 'score': 11.54}, {'connected_gene': 'LOC100652967', 'score': 11.54}, {'connected_gene': 'LOC100133211', 'score': 0.34}, {'connected_gene': 'ENSG00000237279', 'score': 0.31}]
chr1	GH01I052926	52926607	52928429	1.89	[{'connected_gene': 'ECHDC2', 'score': 567.89}, {'connected_gene': 'SCP2', 'score': 550.77}, {'connected_gene': 'MIR1273F', 'score': 550.77}, {'connected_gene': 'COA7', 'score': 7.45}, {'connected_gene': 'SLC1A7', 'score': 5.62}]
chr1	GH01I052842	52842149	52845519	2.04	[{'connected_gene': 'ZYG11A', 'score': 550.77}, {'connected_gene': 'ECHDC2', 'score': 13.43}, {'connected_gene': 'PRPF38A', 'score': 12.97}, {'connected_gene': 'MAGOH', 'score': 12.18}, {'connected_gene': 'ENSG00000272100', 'score': 11.99}, {'connected_gene': 'ZFYVE9', 'score': 11.42}, {'connected_gene': 'ZYG11B', 'score': 11.22}, {'connected_gene': 'ZCCHC11', 'score': 10.51}, {'connected_gene': 'KTI12', 'score': 9.81}, {'connected_gene': 'PIR36649', 'score': 0.39}]
chr1	GH01I053132	53132129	53136578	1.16	[{'connected_gene': 'MAGOH', 'score': 28.93}, {'connected_gene': 'NDC1', 'score': 22.67}, {'connected_gene': 'ENSG00000230953', 'score': 20.77}, {'connected_gene': 'PODN', 'score': 19.44}, {'connected_gene': 'SLC1A7', 'score': 15.93}, {'connected_gene': 'LRRC42', 'score': 11.01}, {'connected_gene': 'ZCCHC11', 'score': 10.3}, {'connected_gene': 'RPS13P2', 'score': 10.3}, {'connected_gene': 'ECHDC2', 'score': 9.97}, {'connected_gene': 'PLA2G12AP1', 'score': 4.1}, {'connected_gene': 'GC01P053132', 'score': 0.77}]
chr1	GH01I052904	52904826	52906386	0.75	[{'connected_gene': 'MAGOH', 'score': 14.91}, {'connected_gene': 'SCP2', 'score': 12.34}, {'connected_gene': 'ECHDC2', 'score': 12.34}, {'connected_gene': 'ZCCHC11', 'score': 11.2}, {'connected_gene': 'ENSG00000230953', 'score': 10.68}, {'connected_gene': 'RPS13P2', 'score': 10.18}, {'connected_gene': 'GPX7', 'score': 9.86}, {'connected_gene': 'SLC1A7', 'score': 5.61}, {'connected_gene': 'PIR50883', 'score': 0.44}]
chr1	GH01I053237	53237598	53239598	2.32	[{'connected_gene': 'MAGOH', 'score': 574.79}, {'connected_gene': 'LOC100507564', 'score': 550.77}, {'connected_gene': 'C1orf123', 'score': 28.65}, {'connected_gene': 'NDC1', 'score': 22.26}, {'connected_gene': 'CYB5RL', 'score': 21.53}, {'connected_gene': 'ZCCHC11', 'score': 20.71}, {'connected_gene': 'ENSG00000230953', 'score': 20.41}, {'connected_gene': 'SSBP3-AS1', 'score': 13.69}, {'connected_gene': 'ENSG00000236723', 'score': 11.51}, {'connected_gene': 'LRP8', 'score': 10.66}, {'connected_gene': 'LINC01771', 'score': 10.66}, {'connected_gene': 'LRRC42', 'score': 10.02}, {'connected_gene': 'ECHDC2', 'score': 9.95}, {'connected_gene': 'ENSG00000256407', 'score': 9.8}, {'connected_gene': 'PIR31553', 'score': 0.37}]
chr1	GH01I052631	52631305	52639399	2.63	[{'connected_gene': 'SHISAL2A', 'score': 557.17}, {'connected_gene': 'ZCCHC11', 'score': 29.15}, {'connected_gene': 'GPX7', 'score': 26.89}, {'connected_gene': 'MAGOH', 'score': 14.62}, {'connected_gene': 'PRPF38A', 'score': 13.33}, {'connected_gene': 'ENSG00000230953', 'score': 12.29}, {'connected_gene': 'ENSG00000272100', 'score': 12.01}, {'connected_gene': 'CC2D1B', 'score': 11.66}, {'connected_gene': 'ENSG00000266993', 'score': 11.43}, {'connected_gene': 'ORC1', 'score': 10.75}, {'connected_gene': 'ECHDC2', 'score': 9.95}, {'connected_gene': 'RPS13P2', 'score': 9.84}, {'connected_gene': 'GC01P052637', 'score': 0.77}]
chr1	GH01I051940	51940416	51943018	0.31	[{'connected_gene': 'ZCCHC11', 'score': 17.83}, {'connected_gene': 'RAB3B', 'score': 17.79}, {'connected_gene': 'NRDC', 'score': 16.58}, {'connected_gene': 'PRPF38A', 'score': 12.45}, {'connected_gene': 'ENSG00000272100', 'score': 11.98}, {'connected_gene': 'ECHDC2', 'score': 10.04}, {'connected_gene': 'CC2D1B', 'score': 5.73}, {'connected_gene': 'LOC100190934', 'score': 4.98}, {'connected_gene': 'GC01P051974', 'score': 0.29}, {'connected_gene': 'GC01P051906', 'score': 0.28}]
chr1	GH01I052925	52925169	52926171	1.05	[{'connected_gene': 'SCP2', 'score': 550.77}, {'connected_gene': 'ECHDC2', 'score': 550.77}, {'connected_gene': 'LOC100652967', 'score': 550.77}]
chr1	GH01I052906	52906409	52906558	0.57	[{'connected_gene': 'SCP2', 'score': 12.34}, {'connected_gene': 'ECHDC2', 'score': 12.34}, {'connected_gene': 'PIR50883', 'score': 0.44}, {'connected_gene': 'ENSG00000230953', 'score': 0.39}]
chr1	GH01I052916	52916369	52916518	0.38	[{'connected_gene': 'ENSG00000230953', 'score': 0.77}, {'connected_gene': 'ECHDC2', 'score': 0.39}, {'connected_gene': 'PIR50883', 'score': 0.37}]
chr1	GH01I052907	52907609	52907758	0.71	[{'connected_gene': 'PIR50883', 'score': 0.44}, {'connected_gene': 'ENSG00000230953', 'score': 0.39}, {'connected_gene': 'ECHDC2', 'score': 0.37}]