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
chr16	19535167	19535231	CAGE_peak_2_at_CCP110_5end
chr16	19535235	19535286	CAGE_peak_1_at_CCP110_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I019493	19493779	19494000	0.92	[{'connected_gene': 'CCP110', 'score': 9.67}, {'connected_gene': 'GC16P019498', 'score': 0.77}, {'connected_gene': 'ENSG00000260592', 'score': 0.44}, {'connected_gene': 'TMC5', 'score': 0.18}]
chr16	GH16I019529	19529827	19538004	0.54	[{'connected_gene': 'CCP110', 'score': 18.06}, {'connected_gene': 'C16orf62', 'score': 12.01}, {'connected_gene': 'RNU4-46P', 'score': 11.41}, {'connected_gene': 'KNOP1', 'score': 8.12}, {'connected_gene': 'GDE1', 'score': 4.71}, {'connected_gene': 'GC16P019537', 'score': 0.77}]
chr16	GH16I019601	19601479	19601628	0.8	[{'connected_gene': 'CCP110', 'score': 5.44}, {'connected_gene': 'C16orf62', 'score': 0.25}, {'connected_gene': 'GC16M019688', 'score': 0.17}, {'connected_gene': 'GC16M019687', 'score': 0.17}]
chr16	GH16I019580	19580327	19582996	0.52	[{'connected_gene': 'CCP110', 'score': 12.1}, {'connected_gene': 'KNOP1', 'score': 6.94}, {'connected_gene': 'GDE1', 'score': 5.52}, {'connected_gene': 'C16orf62', 'score': 0.31}, {'connected_gene': 'GC16M019688', 'score': 0.14}, {'connected_gene': 'GC16M019687', 'score': 0.14}]
chr16	GH16I019523	19523259	19526039	2.24	[{'connected_gene': 'CCP110', 'score': 569.47}, {'connected_gene': 'KNOP1', 'score': 6.9}, {'connected_gene': 'ENSG00000259871', 'score': 6.64}, {'connected_gene': 'GC16P019512', 'score': 0.39}, {'connected_gene': 'GC16P019537', 'score': 0.39}]
chr16	GH16I019428	19428786	19433965	1.22	[{'connected_gene': 'TMC5', 'score': 12.54}, {'connected_gene': 'RNU4-46P', 'score': 11.47}, {'connected_gene': 'COQ7', 'score': 10.25}, {'connected_gene': 'CCP110', 'score': 7.01}, {'connected_gene': 'ENSG00000259925', 'score': 6.75}, {'connected_gene': 'GC16P019423', 'score': 0.44}, {'connected_gene': 'GC16P019447', 'score': 0.37}]
chr16	GH16I019679	19679649	19682807	0.72	[{'connected_gene': 'RPS15A', 'score': 21.16}, {'connected_gene': 'C16orf62', 'score': 16.57}, {'connected_gene': 'KNOP1', 'score': 13.74}, {'connected_gene': 'IQCK', 'score': 10.3}, {'connected_gene': 'CCP110', 'score': 10.22}, {'connected_gene': 'SYT17', 'score': 4.17}, {'connected_gene': 'GC16M019688', 'score': 0.44}, {'connected_gene': 'GC16M019687', 'score': 0.44}]
chr16	GH16I018786	18786475	18791478	2.51	[{'connected_gene': 'RPS15A', 'score': 563.31}, {'connected_gene': 'ARL6IP1', 'score': 13.67}, {'connected_gene': 'CCP110', 'score': 12.66}, {'connected_gene': 'COQ7', 'score': 9.72}, {'connected_gene': 'ENSG00000205746', 'score': 4.97}, {'connected_gene': 'GC16M018782', 'score': 0.77}, {'connected_gene': 'ENSG00000260342', 'score': 0.39}]
chr16	GH16I019554	19554337	19556914	2.09	[{'connected_gene': 'C16orf62', 'score': 560.92}, {'connected_gene': 'RPS15A', 'score': 22.6}, {'connected_gene': 'CCP110', 'score': 19.09}, {'connected_gene': 'COQ7', 'score': 10.09}, {'connected_gene': 'TMC5', 'score': 7.67}, {'connected_gene': 'KNOP1', 'score': 6.91}, {'connected_gene': 'GDE1', 'score': 5.0}, {'connected_gene': 'GC16M019688', 'score': 0.12}, {'connected_gene': 'GC16M019687', 'score': 0.12}]
chr16	GH16I019528	19528653	19529178	0.38	[{'connected_gene': 'C16orf62', 'score': 11.98}, {'connected_gene': 'RNU4-46P', 'score': 11.43}, {'connected_gene': 'KNOP1', 'score': 6.9}, {'connected_gene': 'GC16P019537', 'score': 0.44}, {'connected_gene': 'CCP110', 'score': 0.44}]
chr16	GH16I019526	19526649	19527204	0.2	[{'connected_gene': 'C16orf62', 'score': 11.98}, {'connected_gene': 'RNU4-46P', 'score': 11.45}, {'connected_gene': 'KNOP1', 'score': 7.38}, {'connected_gene': 'CCP110', 'score': 0.77}, {'connected_gene': 'GC16P019537', 'score': 0.39}]
chr16	GH16I019515	19515093	19518086	0.78	[{'connected_gene': 'C16orf62', 'score': 11.48}, {'connected_gene': 'COQ7', 'score': 10.18}, {'connected_gene': 'CCP110', 'score': 9.79}, {'connected_gene': 'KNOP1', 'score': 6.9}, {'connected_gene': 'GDE1', 'score': 4.75}, {'connected_gene': 'GC16P019512', 'score': 0.77}]
chr16	GH16I019597	19597192	19598457	0.38	[{'connected_gene': 'GPRC5B', 'score': 5.95}, {'connected_gene': 'CCP110', 'score': 5.51}, {'connected_gene': 'C16orf62', 'score': 0.26}, {'connected_gene': 'GC16M019688', 'score': 0.16}, {'connected_gene': 'GC16M019687', 'score': 0.16}]
chr16	GH16I019881	19881695	19885648	2.25	[{'connected_gene': 'GPRC5B', 'score': 566.46}, {'connected_gene': 'THUMPD1', 'score': 16.92}, {'connected_gene': 'C16orf62', 'score': 10.83}, {'connected_gene': 'KNOP1', 'score': 8.75}, {'connected_gene': 'CCP110', 'score': 7.06}, {'connected_gene': 'LARP7P2', 'score': 0.21}, {'connected_gene': 'GC16M019876', 'score': 0.09}]
chr16	GH16I019606	19606794	19608755	0.2	[{'connected_gene': 'GPRC5B', 'score': 17.75}, {'connected_gene': 'IQCK', 'score': 10.54}, {'connected_gene': 'KNOP1', 'score': 10.53}, {'connected_gene': 'ENSG00000259925', 'score': 5.84}, {'connected_gene': 'CCP110', 'score': 5.4}, {'connected_gene': 'C16orf62', 'score': 0.23}, {'connected_gene': 'GC16M019688', 'score': 0.18}, {'connected_gene': 'GC16M019687', 'score': 0.18}]
chr16	GH16I019520	19520153	19523130	2.5	[{'connected_gene': 'GDE1', 'score': 550.77}, {'connected_gene': 'CCP110', 'score': 11.92}, {'connected_gene': 'KNOP1', 'score': 6.08}, {'connected_gene': 'SYT17', 'score': 5.1}, {'connected_gene': 'GC16P019512', 'score': 0.44}]
chr16	GH16I019588	19588677	19591290	0.86	[{'connected_gene': 'KNOP1', 'score': 15.17}, {'connected_gene': 'CCP110', 'score': 9.79}, {'connected_gene': 'TMC5', 'score': 4.32}, {'connected_gene': 'C16orf62', 'score': 0.29}, {'connected_gene': 'GC16M019688', 'score': 0.15}, {'connected_gene': 'GC16M019687', 'score': 0.15}]
chr16	GH16I019584	19584609	19585601	0.2	[{'connected_gene': 'KNOP1', 'score': 15.09}, {'connected_gene': 'CCP110', 'score': 9.11}, {'connected_gene': 'C16orf62', 'score': 0.29}, {'connected_gene': 'GC16M019688', 'score': 0.15}, {'connected_gene': 'GC16M019687', 'score': 0.15}]
chr16	GH16I019573	19573604	19575790	0.38	[{'connected_gene': 'KNOP1', 'score': 9.2}, {'connected_gene': 'CCP110', 'score': 8.74}, {'connected_gene': 'C16orf62', 'score': 4.58}, {'connected_gene': 'GC16M019688', 'score': 0.14}, {'connected_gene': 'GC16M019687', 'score': 0.14}]
chr16	GH16I019577	19577739	19579893	0.58	[{'connected_gene': 'KNOP1', 'score': 10.14}, {'connected_gene': 'CCP110', 'score': 9.25}, {'connected_gene': 'ACSM5', 'score': 4.77}, {'connected_gene': 'C16orf62', 'score': 0.34}, {'connected_gene': 'GC16M019688', 'score': 0.14}, {'connected_gene': 'GC16M019687', 'score': 0.14}]
chr16	GH16I019598	19598810	19599542	0.31	[{'connected_gene': 'KNOP1', 'score': 6.3}, {'connected_gene': 'GPRC5B', 'score': 5.95}, {'connected_gene': 'CCP110', 'score': 5.01}, {'connected_gene': 'C16orf62', 'score': 0.26}, {'connected_gene': 'GC16M019688', 'score': 0.17}, {'connected_gene': 'GC16M019687', 'score': 0.17}]
chr16	GH16I019757	19757859	19758645	1.15	[{'connected_gene': 'KNOP1', 'score': 34.67}, {'connected_gene': 'GPRC5B', 'score': 10.1}, {'connected_gene': 'CCP110', 'score': 5.81}, {'connected_gene': 'IQCK', 'score': 1.45}, {'connected_gene': 'LOC105371115', 'score': 0.44}]
chr16	GH16I019539	19539841	19541009	0.46	[{'connected_gene': 'RNU4-46P', 'score': 11.15}, {'connected_gene': 'CCP110', 'score': 9.38}, {'connected_gene': 'KNOP1', 'score': 6.91}, {'connected_gene': 'GC16P019537', 'score': 0.77}, {'connected_gene': 'C16orf62', 'score': 0.39}]
chr16	GH16I019348	19348405	19349668	0.65	[{'connected_gene': 'RNU4-46P', 'score': 10.83}, {'connected_gene': 'ENSG00000259925', 'score': 10.77}, {'connected_gene': 'CCP110', 'score': 10.21}, {'connected_gene': 'IQCK', 'score': 10.08}, {'connected_gene': 'SYT17', 'score': 6.06}, {'connected_gene': 'GC16P019342', 'score': 0.44}, {'connected_gene': 'GC16P019371', 'score': 0.34}, {'connected_gene': 'LOC105371114', 'score': 0.26}]
chr16	GH16I019436	19436380	19438400	0.77	[{'connected_gene': 'RNU4-46P', 'score': 11.47}, {'connected_gene': 'COQ7', 'score': 10.05}, {'connected_gene': 'CCP110', 'score': 5.35}, {'connected_gene': 'TMC5', 'score': 4.66}, {'connected_gene': 'GC16P019447', 'score': 0.39}, {'connected_gene': 'GC16P019423', 'score': 0.39}]
chr16	GH16I019502	19502759	19502928	0.69	[{'connected_gene': 'ENSG00000279747', 'score': 550.77}, {'connected_gene': 'ENSG00000260934', 'score': 550.77}, {'connected_gene': 'CCP110', 'score': 8.24}, {'connected_gene': 'GDE1', 'score': 0.37}]
chr16	GH16I019512	19512991	19514573	0.88	[{'connected_gene': 'GC16P019512', 'score': 550.77}, {'connected_gene': 'CCP110', 'score': 11.16}, {'connected_gene': 'COQ7', 'score': 9.68}, {'connected_gene': 'GDE1', 'score': 0.44}]
chr16	GH16I019542	19542239	19542388	1.11	[{'connected_gene': 'GC16P019537', 'score': 0.44}, {'connected_gene': 'C16orf62', 'score': 0.39}, {'connected_gene': 'CCP110', 'score': 0.37}]
chr16	GH16I019545	19545048	19545481	0.31	[{'connected_gene': 'GC16P019537', 'score': 0.44}, {'connected_gene': 'C16orf62', 'score': 0.44}, {'connected_gene': 'CCP110', 'score': 0.34}]
chr16	GH16I019487	19487201	19489422	1.15	[{'connected_gene': 'ENSG00000260592', 'score': 550.77}, {'connected_gene': 'COQ7', 'score': 20.4}, {'connected_gene': 'SMG1', 'score': 13.02}, {'connected_gene': 'RPS15A', 'score': 10.59}, {'connected_gene': 'SYT17', 'score': 10.4}, {'connected_gene': 'KNOP1', 'score': 7.69}, {'connected_gene': 'CCP110', 'score': 6.76}, {'connected_gene': 'TMC5', 'score': 5.64}, {'connected_gene': 'GDE1', 'score': 4.61}, {'connected_gene': 'GC16P019498', 'score': 0.39}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000396212	[[19535132, 19535410], [19537040, 19537183], [19539188, 19539344], [19543737, 19543866], [19547261, 19548909], [19551978, 19552109], [19553208, 19553386], [19553942, 19554082], [19554199, 19554316], [19556118, 19556220], [19556415, 19556532], [19557138, 19557212], [19557733, 19557796], [19559276, 19559336], [19562517, 19564730]]	[[19539203, 19539344], [19543737, 19543866], [19547261, 19548909], [19551978, 19552109], [19553208, 19553386], [19553942, 19554082], [19554199, 19554316], [19556118, 19556220], [19556415, 19556532], [19557138, 19557212], [19557733, 19557796], [19559276, 19559336], [19562517, 19562593]]
ENST00000381396	[[19535178, 19535410], [19539188, 19539344], [19543737, 19543866], [19547261, 19548909], [19551978, 19552109], [19553208, 19553386], [19553942, 19554082], [19554199, 19554316], [19556118, 19556220], [19556415, 19556532], [19557138, 19557212], [19557733, 19557796], [19559276, 19559336], [19559836, 19559922], [19562517, 19564730]]	[[19539203, 19539344], [19543737, 19543866], [19547261, 19548909], [19551978, 19552109], [19553208, 19553386], [19553942, 19554082], [19554199, 19554316], [19556118, 19556220], [19556415, 19556532], [19557138, 19557212], [19557733, 19557796], [19559276, 19559336], [19559836, 19559922], [19562517, 19562570]]
ENST00000569190	[[19535200, 19535410], [19536101, 19538491]]	None
ENST00000565376	[[19535260, 19535410], [19536101, 19536341], [19537040, 19537183], [19539188, 19539353]]	[[19539203, 19539353]]
ENST00000573412	[[19535263, 19535410], [19536101, 19536546], [19537040, 19537121]]	None
ENST00000396208	[[19535278, 19535410], [19539188, 19539344], [19543737, 19543866], [19547261, 19548909], [19551978, 19552109], [19553208, 19553386], [19553942, 19554082], [19554199, 19554316], [19556118, 19556220], [19556415, 19556532], [19557138, 19557212], [19557733, 19557796], [19559276, 19559336], [19562517, 19564722]]	[[19539203, 19539344], [19543737, 19543866], [19547261, 19548909], [19551978, 19552109], [19553208, 19553386], [19553942, 19554082], [19554199, 19554316], [19556118, 19556220], [19556415, 19556532], [19557138, 19557212], [19557733, 19557796], [19559276, 19559336], [19562517, 19562593]]
ENST00000562083	[[19535282, 19535410], [19539188, 19539344], [19551978, 19552109], [19553208, 19553388]]	[[19539203, 19539344], [19551978, 19551996]]
ENST00000561888	[[19539242, 19539344], [19547261, 19547519]]	[[19539242, 19539344], [19547261, 19547519]]
ENST00000566523	[[19556463, 19556532], [19557138, 19557887]]	None
ENST00000562616	[[19558170, 19559336], [19559836, 19559922], [19562517, 19562944]]	None
ENST00000567451	[[19559053, 19559922], [19562517, 19562799]]	None
NM_001323577	[[19535178, 19535410], [19539188, 19539344], [19543737, 19543866], [19547261, 19548909], [19551978, 19552109], [19553208, 19553386], [19553942, 19554082], [19554199, 19554316], [19556118, 19556220], [19556415, 19556532], [19557138, 19557212], [19557733, 19557796], [19562517, 19564730]]	[[19539203, 19539344], [19543737, 19543866], [19547261, 19548909], [19551978, 19552109], [19553208, 19553386], [19553942, 19554082], [19554199, 19554316], [19556118, 19556220], [19556415, 19556532], [19557138, 19557212], [19557733, 19557796], [19562517, 19562593]]
NM_001323572	[[19535178, 19535410], [19539188, 19539344], [19543737, 19543866], [19547261, 19548909], [19551978, 19552109], [19553208, 19553386], [19553942, 19554082], [19554199, 19554316], [19556118, 19556220], [19556415, 19556532], [19557138, 19557212], [19557733, 19557796], [19559276, 19559336], [19562517, 19564730]]	[[19539203, 19539344], [19543737, 19543866], [19547261, 19548909], [19551978, 19552109], [19553208, 19553386], [19553942, 19554082], [19554199, 19554316], [19556118, 19556220], [19556415, 19556532], [19557138, 19557212], [19557733, 19557796], [19559276, 19559336], [19562517, 19562593]]
NM_001199022	[[19535178, 19535410], [19539188, 19539344], [19543737, 19543866], [19547261, 19548909], [19551978, 19552109], [19553208, 19553386], [19553942, 19554082], [19554199, 19554316], [19556118, 19556220], [19556415, 19556532], [19557138, 19557212], [19557733, 19557796], [19559276, 19559336], [19559836, 19559922], [19562517, 19564730]]	[[19539203, 19539344], [19543737, 19543866], [19547261, 19548909], [19551978, 19552109], [19553208, 19553386], [19553942, 19554082], [19554199, 19554316], [19556118, 19556220], [19556415, 19556532], [19557138, 19557212], [19557733, 19557796], [19559276, 19559336], [19559836, 19559922], [19562517, 19562570]]
NM_001323576	[[19535178, 19535410], [19537040, 19537183], [19539188, 19539344], [19543737, 19543866], [19547261, 19548909], [19551978, 19552109], [19553208, 19553386], [19553942, 19554082], [19554199, 19554316], [19556118, 19556220], [19556415, 19556532], [19557138, 19557212], [19557733, 19557796], [19562517, 19564730]]	[[19539203, 19539344], [19543737, 19543866], [19547261, 19548909], [19551978, 19552109], [19553208, 19553386], [19553942, 19554082], [19554199, 19554316], [19556118, 19556220], [19556415, 19556532], [19557138, 19557212], [19557733, 19557796], [19562517, 19562593]]
NM_014711	[[19535178, 19535410], [19537040, 19537183], [19539188, 19539344], [19543737, 19543866], [19547261, 19548909], [19551978, 19552109], [19553208, 19553386], [19553942, 19554082], [19554199, 19554316], [19556118, 19556220], [19556415, 19556532], [19557138, 19557212], [19557733, 19557796], [19559276, 19559336], [19562517, 19564730]]	[[19539203, 19539344], [19543737, 19543866], [19547261, 19548909], [19551978, 19552109], [19553208, 19553386], [19553942, 19554082], [19554199, 19554316], [19556118, 19556220], [19556415, 19556532], [19557138, 19557212], [19557733, 19557796], [19559276, 19559336], [19562517, 19562593]]
NM_001323569	[[19535178, 19535410], [19537040, 19537183], [19539188, 19539344], [19543737, 19543866], [19547261, 19548909], [19551978, 19552109], [19553208, 19553386], [19553942, 19554082], [19554199, 19554316], [19556118, 19556220], [19556415, 19556532], [19557138, 19557212], [19557733, 19557796], [19559276, 19559336], [19559836, 19559922], [19562517, 19564730]]	[[19539203, 19539344], [19543737, 19543866], [19547261, 19548909], [19551978, 19552109], [19553208, 19553386], [19553942, 19554082], [19554199, 19554316], [19556118, 19556220], [19556415, 19556532], [19557138, 19557212], [19557733, 19557796], [19559276, 19559336], [19559836, 19559922], [19562517, 19562570]]
NM_001323571	[[19535178, 19535410], [19536101, 19536341], [19537040, 19537183], [19539188, 19539344], [19543737, 19543866], [19547261, 19548909], [19551978, 19552109], [19553208, 19553386], [19553942, 19554082], [19554199, 19554316], [19556118, 19556220], [19556415, 19556532], [19557138, 19557212], [19557733, 19557796], [19559276, 19559336], [19562517, 19564730]]	[[19539203, 19539344], [19543737, 19543866], [19547261, 19548909], [19551978, 19552109], [19553208, 19553386], [19553942, 19554082], [19554199, 19554316], [19556118, 19556220], [19556415, 19556532], [19557138, 19557212], [19557733, 19557796], [19559276, 19559336], [19562517, 19562593]]
NM_001323570	[[19535178, 19535410], [19536101, 19536546], [19537040, 19537183], [19539188, 19539344], [19543737, 19543866], [19547261, 19548909], [19551978, 19552109], [19553208, 19553386], [19553942, 19554082], [19554199, 19554316], [19556118, 19556220], [19556415, 19556532], [19557138, 19557212], [19557733, 19557796], [19559276, 19559336], [19562517, 19564730]]	[[19539203, 19539344], [19543737, 19543866], [19547261, 19548909], [19551978, 19552109], [19553208, 19553386], [19553942, 19554082], [19554199, 19554316], [19556118, 19556220], [19556415, 19556532], [19557138, 19557212], [19557733, 19557796], [19559276, 19559336], [19562517, 19562593]]