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
chr11	95523621	95523710	CAGE_peak_1_at_CEP57_5end
chr11	95523723	95523734	CAGE_peak_3_at_CEP57_5end
chr11	95523735	95523755	CAGE_peak_2_at_CEP57_5end
chr11	95523826	95523845	CAGE_peak_4_at_CEP57_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I095863	95863082	95864805	0.4	[{'connected_gene': 'CEP57', 'score': 23.58}, {'connected_gene': 'MTMR2', 'score': 6.72}, {'connected_gene': 'GC11M095879', 'score': 0.37}, {'connected_gene': 'RNA5SP345', 'score': 0.34}]
chr11	GH11I095876	95876197	95878942	0.96	[{'connected_gene': 'CEP57', 'score': 11.19}, {'connected_gene': 'MTMR2', 'score': 8.81}, {'connected_gene': 'GC11M095879', 'score': 0.77}, {'connected_gene': 'RNA5SP345', 'score': 0.28}]
chr11	GH11I095908	95908327	95910177	0.2	[{'connected_gene': 'CEP57', 'score': 19.24}, {'connected_gene': 'GC11M095916', 'score': 0.39}, {'connected_gene': 'MTMR2', 'score': 0.37}, {'connected_gene': 'GC11M095879', 'score': 0.31}]
chr11	GH11I095916	95916751	95918333	1.1	[{'connected_gene': 'CEP57', 'score': 4.38}, {'connected_gene': 'GC11M095916', 'score': 0.77}, {'connected_gene': 'MTMR2', 'score': 0.44}, {'connected_gene': 'GC11M095879', 'score': 0.28}]
chr11	GH11I095883	95883997	95885023	0.76	[{'connected_gene': 'CEP57', 'score': 24.15}, {'connected_gene': 'GC11M095879', 'score': 0.77}, {'connected_gene': 'GC11M095916', 'score': 0.28}, {'connected_gene': 'MTMR2', 'score': 0.26}]
chr11	GH11I095788	95788221	95792611	2.3	[{'connected_gene': 'CEP57', 'score': 590.6}, {'connected_gene': 'FAM76B', 'score': 586.01}, {'connected_gene': 'FGFR3P2', 'score': 23.27}, {'connected_gene': 'MAML2', 'score': 18.24}, {'connected_gene': 'JRKL', 'score': 14.39}, {'connected_gene': 'LOC101929295', 'score': 10.76}, {'connected_gene': 'MTMR2', 'score': 9.61}, {'connected_gene': 'GC11M095802', 'score': 0.37}]
chr11	GH11I095798	95798151	95798654	0.2	[{'connected_gene': 'CEP57', 'score': 26.83}, {'connected_gene': 'LOC101929295', 'score': 9.54}, {'connected_gene': 'MTMR2', 'score': 7.91}, {'connected_gene': 'GC11M095802', 'score': 0.44}, {'connected_gene': 'FAM76B', 'score': 0.44}]
chr11	GH11I095835	95835279	95836883	0.99	[{'connected_gene': 'CEP57', 'score': 25.15}, {'connected_gene': 'LOC101929295', 'score': 9.38}, {'connected_gene': 'MTMR2', 'score': 4.98}, {'connected_gene': 'RNA5SP345', 'score': 0.77}, {'connected_gene': 'GC11M095816', 'score': 0.44}]
chr11	GH11I095720	95720151	95720863	0.31	[{'connected_gene': 'CEP57', 'score': 11.2}, {'connected_gene': 'LOC101929295', 'score': 10.62}, {'connected_gene': 'SESN3', 'score': 10.43}, {'connected_gene': 'GC11M095720', 'score': 0.44}, {'connected_gene': 'ENSG00000255605', 'score': 0.34}]
chr11	GH11I095714	95714360	95717584	1.49	[{'connected_gene': 'CEP57', 'score': 13.28}, {'connected_gene': 'LOC101929295', 'score': 10.57}, {'connected_gene': 'FAM76B', 'score': 2.37}, {'connected_gene': 'GC11M095720', 'score': 0.39}, {'connected_gene': 'ENSG00000255605', 'score': 0.37}]
chr11	GH11I095796	95795440	95795499	0.5	[{'connected_gene': 'CEP57', 'score': 550.44}, {'connected_gene': 'LOC101929295', 'score': 10.5}, {'connected_gene': 'FAM76B', 'score': 0.44}, {'connected_gene': 'GC11M095802', 'score': 0.39}]
chr11	GH11I095733	95733076	95735324	0.97	[{'connected_gene': 'CEP57', 'score': 13.99}, {'connected_gene': 'LOC101929295', 'score': 10.12}, {'connected_gene': 'GC11M095720', 'score': 0.77}, {'connected_gene': 'FGFR3P2', 'score': 0.34}]
chr11	GH11I095848	95848928	95850081	0.82	[{'connected_gene': 'CEP57', 'score': 25.85}, {'connected_gene': 'RNA5SP345', 'score': 0.44}, {'connected_gene': 'GC11M095879', 'score': 0.29}, {'connected_gene': 'MTMR2', 'score': 0.18}]
chr11	GH11I095976	95976597	95978540	0.68	[{'connected_gene': 'CEP57', 'score': 5.0}, {'connected_gene': 'RPL32P25', 'score': 0.39}, {'connected_gene': 'GC11M095989', 'score': 0.34}, {'connected_gene': 'MAML2', 'score': 0.05}]
chr11	GH11I095922	95922548	95925758	2.28	[{'connected_gene': 'MTMR2', 'score': 561.06}, {'connected_gene': 'CEP57', 'score': 32.78}, {'connected_gene': 'FAM76B', 'score': 31.96}, {'connected_gene': 'FGFR3P2', 'score': 13.24}, {'connected_gene': 'GC11M095916', 'score': 0.77}]
chr11	GH11I096011	96011538	96017134	1.69	[{'connected_gene': 'MAML2', 'score': 16.12}, {'connected_gene': 'CEP57', 'score': 11.01}, {'connected_gene': 'JRKL', 'score': 10.34}, {'connected_gene': 'FAM76B', 'score': 5.95}, {'connected_gene': 'LOC101929295', 'score': 5.71}, {'connected_gene': 'CCDC82', 'score': 1.78}, {'connected_gene': 'GC11M095989', 'score': 0.37}, {'connected_gene': 'GC11P096202', 'score': 0.09}]
chr11	GH11I096337	96337039	96343891	2.51	[{'connected_gene': 'MAML2', 'score': 568.26}, {'connected_gene': 'GC11M096338', 'score': 550.77}, {'connected_gene': 'MIR1260B', 'score': 550.77}, {'connected_gene': 'FAM76B', 'score': 26.9}, {'connected_gene': 'FGFR3P2', 'score': 14.49}, {'connected_gene': 'CEP57', 'score': 11.86}, {'connected_gene': 'CCDC82', 'score': 7.56}, {'connected_gene': 'JRKL', 'score': 3.74}]
chr11	GH11I095156	95156263	95158392	0.54	[{'connected_gene': 'ENDOD1', 'score': 18.82}, {'connected_gene': 'CEP57', 'score': 11.02}, {'connected_gene': 'FAM76B', 'score': 11.02}, {'connected_gene': 'SESN3', 'score': 9.74}, {'connected_gene': 'GC11M095158', 'score': 0.77}, {'connected_gene': 'LOC101929295', 'score': 0.44}]
chr11	GH11I096153	96153202	96158975	1.71	[{'connected_gene': 'FAM76B', 'score': 37.27}, {'connected_gene': 'CEP57', 'score': 32.33}, {'connected_gene': 'FGFR3P2', 'score': 27.8}, {'connected_gene': 'CCDC82', 'score': 13.17}, {'connected_gene': 'JRKL', 'score': 11.32}, {'connected_gene': 'MAML2', 'score': 10.47}, {'connected_gene': 'GC11P096202', 'score': 0.25}, {'connected_gene': 'GC11M095989', 'score': 0.1}]
chr11	GH11I096105	96105201	96106309	1.07	[{'connected_gene': 'FAM76B', 'score': 3.99}, {'connected_gene': 'MAML2', 'score': 3.09}, {'connected_gene': 'CCDC82', 'score': 1.46}, {'connected_gene': 'CEP57', 'score': 1.26}, {'connected_gene': 'GC11P096202', 'score': 0.15}, {'connected_gene': 'GC11M095989', 'score': 0.14}]
chr11	GH11I095146	95146608	95154450	2.25	[{'connected_gene': 'LOC101929295', 'score': 556.79}, {'connected_gene': 'CEP57', 'score': 20.31}, {'connected_gene': 'FAM76B', 'score': 16.44}, {'connected_gene': 'FGFR3P2', 'score': 15.64}, {'connected_gene': 'SESN3', 'score': 15.61}, {'connected_gene': 'ANKRD49', 'score': 13.94}, {'connected_gene': 'MRE11', 'score': 12.94}, {'connected_gene': 'SRSF8', 'score': 7.48}, {'connected_gene': 'ENDOD1', 'score': 6.65}, {'connected_gene': 'LOC105369435', 'score': 5.31}, {'connected_gene': 'CWC15', 'score': 1.93}, {'connected_gene': 'KDM4E', 'score': 1.7}, {'connected_gene': 'ENSG00000270578', 'score': 0.44}]
chr11	GH11I095795	95795777	95795926	0.85	[{'connected_gene': 'LOC101929295', 'score': 10.5}, {'connected_gene': 'MTMR2', 'score': 9.94}, {'connected_gene': 'CEP57', 'score': 0.44}, {'connected_gene': 'FAM76B', 'score': 0.44}, {'connected_gene': 'GC11M095802', 'score': 0.39}]
chr11	GH11I095702	95702401	95703847	0.93	[{'connected_gene': 'LOC101929295', 'score': 11.19}, {'connected_gene': 'SESN3', 'score': 10.51}, {'connected_gene': 'CEP57', 'score': 5.69}, {'connected_gene': 'FAM76B', 'score': 1.75}, {'connected_gene': 'ENSG00000255605', 'score': 0.44}, {'connected_gene': 'GC11M095720', 'score': 0.31}]
chr11	GH11I095705	95705137	95706338	1.2	[{'connected_gene': 'LOC101929295', 'score': 11.67}, {'connected_gene': 'SESN3', 'score': 10.51}, {'connected_gene': 'CEP57', 'score': 7.6}, {'connected_gene': 'ENSG00000255605', 'score': 0.44}, {'connected_gene': 'GC11M095720', 'score': 0.34}]
chr11	GH11I095704	95704897	95705046	0.58	[{'connected_gene': 'LOC101929295', 'score': 11.19}, {'connected_gene': 'SESN3', 'score': 10.51}, {'connected_gene': 'CEP57', 'score': 6.34}, {'connected_gene': 'ENSG00000255605', 'score': 0.44}, {'connected_gene': 'GC11M095720', 'score': 0.31}]
chr11	GH11I096328	96328337	96334097	1.39	[{'connected_gene': 'FGFR3P2', 'score': 23.0}, {'connected_gene': 'FAM76B', 'score': 16.29}, {'connected_gene': 'CCDC82', 'score': 15.34}, {'connected_gene': 'CEP57', 'score': 15.23}, {'connected_gene': 'JRKL', 'score': 14.58}, {'connected_gene': 'MAML2', 'score': 10.03}, {'connected_gene': 'GC11M096338', 'score': 0.44}, {'connected_gene': 'GC11P096202', 'score': 0.13}]
chr11	GH11I095248	95248317	95249576	0.95	[{'connected_gene': 'FGFR3P2', 'score': 15.87}, {'connected_gene': 'FAM76B', 'score': 15.57}, {'connected_gene': 'MRE11', 'score': 14.34}, {'connected_gene': 'ANKRD49', 'score': 11.55}, {'connected_gene': 'CEP57', 'score': 11.34}, {'connected_gene': 'LOC101929295', 'score': 9.91}, {'connected_gene': 'GC11M095260', 'score': 0.39}, {'connected_gene': 'SESN3', 'score': 0.37}]
chr11	GH11I095228	95228018	95233778	2.18	[{'connected_gene': 'LOC100129203', 'score': 550.77}, {'connected_gene': 'SESN3', 'score': 550.77}, {'connected_gene': 'MRE11', 'score': 12.14}, {'connected_gene': 'FGFR3P2', 'score': 11.27}, {'connected_gene': 'CEP57', 'score': 11.24}, {'connected_gene': 'FAM76B', 'score': 10.37}, {'connected_gene': 'LOC101929295', 'score': 5.0}]
chr11	GH11I095697	95697442	95701259	1.12	[{'connected_gene': 'ENSG00000255605', 'score': 550.77}, {'connected_gene': 'CEP57', 'score': 20.97}, {'connected_gene': 'FAM76B', 'score': 12.43}, {'connected_gene': 'LOC101929295', 'score': 11.41}, {'connected_gene': 'SESN3', 'score': 11.3}, {'connected_gene': 'GC11M095720', 'score': 0.29}]
chr11	GH11I095829	95829167	95833687	0.74	[{'connected_gene': 'GC11M095816', 'score': 550.77}, {'connected_gene': 'CEP57', 'score': 26.66}, {'connected_gene': 'LOC101929295', 'score': 9.27}, {'connected_gene': 'MTMR2', 'score': 5.74}, {'connected_gene': 'RNA5SP345', 'score': 0.44}]
chr11	GH11I095764	95764397	95764546	0.6	[{'connected_gene': 'GC11M095763', 'score': 550.77}, {'connected_gene': 'LOC101929295', 'score': 11.62}, {'connected_gene': 'CEP57', 'score': 0.31}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000537677	[[95523128, 95523306], [95532395, 95532552], [95546095, 95546275], [95546631, 95546753], [95550950, 95551067], [95551990, 95552068], [95555034, 95555142], [95555662, 95555740], [95560949, 95561191], [95562350, 95562495], [95564189, 95564431]]	[[95532431, 95532552], [95546095, 95546275], [95546631, 95546753], [95550950, 95551067], [95551990, 95552068], [95555034, 95555142], [95555662, 95555740], [95560949, 95561191], [95562350, 95562495], [95564189, 95564420]]
ENST00000325542	[[95523624, 95523907], [95532395, 95532552], [95546095, 95546275], [95546631, 95546753], [95550950, 95551067], [95551990, 95552068], [95555034, 95555142], [95555662, 95555740], [95560949, 95561191], [95562350, 95562495], [95564189, 95565857]]	[[95523862, 95523907], [95532395, 95532552], [95546095, 95546275], [95546631, 95546753], [95550950, 95551067], [95551990, 95552068], [95555034, 95555142], [95555662, 95555740], [95560949, 95561191], [95562350, 95562495], [95564189, 95564420]]
ENST00000325486	[[95523641, 95523907], [95532395, 95532552], [95546095, 95546275], [95546631, 95546753], [95550950, 95551067], [95551990, 95552068], [95555034, 95555142], [95560949, 95561191], [95562350, 95562495], [95564189, 95565854]]	[[95523862, 95523907], [95532395, 95532552], [95546095, 95546275], [95546631, 95546753], [95550950, 95551067], [95551990, 95552068], [95555034, 95555142], [95560949, 95561191], [95562350, 95562495], [95564189, 95564420]]
ENST00000539855	[[95523679, 95523907], [95532395, 95532552], [95546067, 95546275], [95546631, 95546753], [95550950, 95551067], [95551990, 95552068], [95555034, 95555142], [95555662, 95555740], [95560949, 95561191], [95562350, 95562495], [95564189, 95564445]]	[[95523862, 95523907], [95532395, 95532552], [95546067, 95546114]]
ENST00000541365	[[95523685, 95523907], [95532400, 95532552], [95546095, 95546275], [95546631, 95546753], [95550950, 95551067], [95551990, 95552067]]	[[95532431, 95532552], [95546095, 95546275], [95546631, 95546753], [95550950, 95551067], [95551990, 95552067]]
ENST00000540830	[[95523696, 95523907], [95532395, 95532552], [95546115, 95546275], [95546631, 95546753], [95550950, 95551067], [95551990, 95552068], [95555034, 95555142], [95555662, 95555740], [95560949, 95561191], [95562350, 95562495], [95564189, 95564707]]	[[95523862, 95523907], [95532395, 95532552], [95546115, 95546129]]
ENST00000538658	[[95523822, 95523907], [95532395, 95532552], [95546095, 95546275], [95546631, 95546753], [95550950, 95551067], [95551990, 95552068], [95555034, 95556379]]	[[95523862, 95523907], [95532395, 95532552], [95546095, 95546275], [95546631, 95546753], [95550950, 95551067], [95551990, 95552068], [95555034, 95555148]]
ENST00000541150	[[95528705, 95528723], [95532395, 95532552], [95546095, 95546275], [95546631, 95546753], [95550950, 95551067], [95551990, 95552068], [95555034, 95555142], [95555662, 95555740], [95560949, 95561191], [95562350, 95562495], [95564189, 95565854]]	[[95528705, 95528723], [95532395, 95532552], [95546095, 95546275], [95546631, 95546753], [95550950, 95551067], [95551990, 95552068], [95555034, 95555142], [95555662, 95555740], [95560949, 95561191], [95562350, 95562495], [95564189, 95564420]]
ENST00000537093	[[95550983, 95551067], [95551990, 95552068], [95560949, 95561191]]	[[95550983, 95551067], [95551990, 95552068], [95560949, 95561191]]
ENST00000535224	[[95551000, 95551067], [95551990, 95552068], [95555034, 95555142], [95560949, 95561191], [95562350, 95562495], [95564189, 95564309]]	[[95551000, 95551067], [95551990, 95552068], [95555034, 95555142], [95560949, 95561191], [95562350, 95562495], [95564189, 95564309]]
ENST00000538095	[[95523661, 95523907], [95527384, 95527523], [95532395, 95532552], [95546095, 95546143]]	[[95523862, 95523907], [95527384, 95527498]]
ENST00000544522	[[95523676, 95523907], [95528679, 95528723], [95532395, 95532552], [95546095, 95546275], [95546631, 95546753], [95550950, 95551067]]	[[95528705, 95528723], [95532395, 95532552], [95546095, 95546275], [95546631, 95546753], [95550950, 95551067]]
ENST00000535497	[[95523694, 95523907], [95546095, 95546275], [95546631, 95546684]]	[[95523862, 95523907], [95546095, 95546176]]
ENST00000536587	[[95546093, 95546275], [95546631, 95546753], [95548281, 95548424]]	None
ENST00000541768	[[95546140, 95546275], [95546631, 95546753], [95550950, 95551196]]	None
ENST00000538158	[[95558846, 95561191], [95562350, 95562495], [95564189, 95564331]]	None
NM_001243777	[[95523624, 95523907], [95532395, 95532552], [95546095, 95546275], [95546631, 95546753], [95550950, 95551067], [95551990, 95552068], [95555034, 95555142], [95560949, 95561191], [95562350, 95562495], [95564189, 95565857]]	[[95523862, 95523907], [95532395, 95532552], [95546095, 95546275], [95546631, 95546753], [95550950, 95551067], [95551990, 95552068], [95555034, 95555142], [95560949, 95561191], [95562350, 95562495], [95564189, 95564420]]
NM_014679	[[95523624, 95523907], [95532395, 95532552], [95546095, 95546275], [95546631, 95546753], [95550950, 95551067], [95551990, 95552068], [95555034, 95555142], [95555662, 95555740], [95560949, 95561191], [95562350, 95562495], [95564189, 95565857]]	[[95523862, 95523907], [95532395, 95532552], [95546095, 95546275], [95546631, 95546753], [95550950, 95551067], [95551990, 95552068], [95555034, 95555142], [95555662, 95555740], [95560949, 95561191], [95562350, 95562495], [95564189, 95564420]]
NM_001243776	[[95523624, 95523907], [95528679, 95528723], [95532395, 95532552], [95546095, 95546275], [95546631, 95546753], [95550950, 95551067], [95551990, 95552068], [95555034, 95555142], [95555662, 95555740], [95560949, 95561191], [95562350, 95562495], [95564189, 95565857]]	[[95528705, 95528723], [95532395, 95532552], [95546095, 95546275], [95546631, 95546753], [95550950, 95551067], [95551990, 95552068], [95555034, 95555142], [95555662, 95555740], [95560949, 95561191], [95562350, 95562495], [95564189, 95564420]]