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
ENST00000545128	[[78505559, 78506289], [78547294, 78547399], [78601047, 78601161], [78638653, 78638797], [78641876, 78641953], [78682870, 78682959], [78686641, 78686814], [78710805, 78711018], [78722166, 78722267], [78749024, 78749128], [78771960, 78772078], [78773898, 78774087], [78784619, 78784756], [78789901, 78790045], [78794511, 78794614], [78796313, 78796507], [78799588, 78799673], [78803493, 78803591], [78804009, 78804139], [78804546, 78804662], [78842418, 78842521], [78848375, 78848512], [78853874, 78854081], [78855531, 78855600], [78907148, 78907191], [78910190, 78910327], [78911580, 78911781], [78923560, 78923644], [78925571, 78925767], [78936337, 78936555], [78937967, 78938204], [78942924, 78943155], [78947348, 78947526], [78953145, 78953363], [78965743, 78965844], [78968948, 78969135], [78973428, 78977255]]	[[78506097, 78506289], [78547294, 78547399], [78601047, 78601161], [78638653, 78638797], [78641876, 78641953], [78682870, 78682959], [78686641, 78686814], [78710805, 78711018], [78722166, 78722267], [78749024, 78749128], [78771960, 78772078], [78773898, 78774087], [78784619, 78784756], [78789901, 78790045], [78794511, 78794614], [78796313, 78796507], [78799588, 78799673], [78803493, 78803591], [78804009, 78804139], [78804546, 78804662], [78842418, 78842521], [78848375, 78848512], [78853874, 78854081], [78855531, 78855600], [78907148, 78907191], [78910190, 78910327], [78911580, 78911781], [78923560, 78923644], [78925571, 78925767], [78936337, 78936555], [78937967, 78938204], [78942924, 78943155], [78947348, 78947526], [78953145, 78953363], [78965743, 78965844], [78968948, 78969135], [78973428, 78973838]]
ENST00000376767	[[78505585, 78506289], [78547294, 78547399], [78601047, 78601161], [78638653, 78638797], [78641876, 78641953], [78682870, 78682959], [78686641, 78686814], [78710805, 78711018], [78722166, 78722267], [78749024, 78749128], [78771960, 78772078], [78773898, 78774087], [78784619, 78784756], [78789901, 78790478]]	[[78506097, 78506289], [78547294, 78547399], [78601047, 78601161], [78638653, 78638797], [78641876, 78641953], [78682870, 78682959], [78686641, 78686814], [78710805, 78711018], [78722166, 78722267], [78749024, 78749128], [78771960, 78772078], [78773898, 78774087], [78784619, 78784756], [78789901, 78790218]]
ENST00000376752	[[78505620, 78506289], [78547294, 78547399], [78601047, 78601161], [78638653, 78638797], [78641876, 78641953], [78682870, 78682959], [78686641, 78686814], [78710805, 78711018], [78722166, 78722267], [78749024, 78749128], [78771960, 78772078], [78773898, 78774087], [78784619, 78784756], [78789901, 78790045], [78794511, 78794614], [78796313, 78796507], [78799588, 78799673], [78803493, 78803591], [78804009, 78804139], [78804546, 78804662], [78808152, 78810805]]	[[78506097, 78506289], [78547294, 78547399], [78601047, 78601161], [78638653, 78638797], [78641876, 78641953], [78682870, 78682959], [78686641, 78686814], [78710805, 78711018], [78722166, 78722267], [78749024, 78749128], [78771960, 78772078], [78773898, 78774087], [78784619, 78784756], [78789901, 78790045], [78794511, 78794614], [78796313, 78796507], [78799588, 78799673], [78803493, 78803591], [78804009, 78804139], [78804546, 78804662], [78808152, 78808268]]
ENST00000424854	[[78710892, 78711018], [78722166, 78722267], [78749024, 78749128], [78771960, 78772078], [78773898, 78774087], [78784619, 78784756], [78789901, 78790045], [78794511, 78794614], [78796313, 78796507], [78799588, 78799673], [78803493, 78803591], [78804009, 78804139], [78804546, 78804662], [78842418, 78842521], [78848375, 78848512], [78853874, 78854081], [78855531, 78855600], [78907148, 78907191], [78910190, 78910327], [78911580, 78911781], [78917052, 78917133], [78923560, 78923644], [78925571, 78925767], [78936337, 78936555], [78937967, 78938204], [78942924, 78943155], [78947348, 78947526], [78953145, 78953363], [78965743, 78965844], [78968948, 78969135], [78973428, 78973886]]	[[78710892, 78711018], [78722166, 78722267], [78749024, 78749128], [78771960, 78772078], [78773898, 78774087], [78784619, 78784756], [78789901, 78790045], [78794511, 78794614], [78796313, 78796507], [78799588, 78799673], [78803493, 78803591], [78804009, 78804139], [78804546, 78804662], [78842418, 78842521], [78848375, 78848512], [78853874, 78854081], [78855531, 78855600], [78907148, 78907191], [78910190, 78910327], [78911580, 78911781], [78917052, 78917133], [78923560, 78923644], [78925571, 78925767], [78936337, 78936555], [78937967, 78938204], [78942924, 78943155], [78947348, 78947526], [78953145, 78953363], [78965743, 78965844], [78968948, 78969135], [78973428, 78973838]]
ENST00000455778	[[78803554, 78803591], [78804009, 78804139], [78804546, 78804662], [78809656, 78809876]]	[[78803554, 78803591], [78804009, 78804139], [78804546, 78804662], [78809656, 78809679]]
NR_120409	[[78505559, 78506289], [78547294, 78547399], [78601047, 78601161], [78638653, 78638797], [78641876, 78641953], [78682870, 78682959], [78686641, 78686814], [78710805, 78711018], [78722166, 78722267], [78771960, 78772078], [78773898, 78774087], [78784619, 78784756], [78789901, 78790045], [78794511, 78794614], [78796313, 78796507], [78799588, 78799673], [78803493, 78803591], [78804009, 78804139], [78804546, 78804662], [78808152, 78810805]]	None
NM_006200	[[78505559, 78506289], [78547294, 78547399], [78601047, 78601161], [78638653, 78638797], [78641876, 78641953], [78682870, 78682959], [78686641, 78686814], [78710805, 78711018], [78722166, 78722267], [78749024, 78749128], [78771960, 78772078], [78773898, 78774087], [78784619, 78784756], [78789901, 78790045], [78794511, 78794614], [78796313, 78796507], [78799588, 78799673], [78803493, 78803591], [78804009, 78804139], [78804546, 78804662], [78808152, 78810805]]	[[78506097, 78506289], [78547294, 78547399], [78601047, 78601161], [78638653, 78638797], [78641876, 78641953], [78682870, 78682959], [78686641, 78686814], [78710805, 78711018], [78722166, 78722267], [78749024, 78749128], [78771960, 78772078], [78773898, 78774087], [78784619, 78784756], [78789901, 78790045], [78794511, 78794614], [78796313, 78796507], [78799588, 78799673], [78803493, 78803591], [78804009, 78804139], [78804546, 78804662], [78808152, 78808268]]
NM_001190482	[[78505559, 78506289], [78547294, 78547399], [78601047, 78601161], [78638653, 78638797], [78641876, 78641953], [78682870, 78682959], [78686641, 78686814], [78710805, 78711018], [78722166, 78722267], [78749024, 78749128], [78771960, 78772078], [78773898, 78774087], [78784619, 78784756], [78789901, 78790045], [78794511, 78794614], [78796313, 78796507], [78799588, 78799673], [78803493, 78803591], [78804009, 78804139], [78804546, 78804662], [78842418, 78842521], [78848375, 78848512], [78853874, 78854081], [78855531, 78855600], [78907148, 78907191], [78910190, 78910327], [78911580, 78911781], [78923560, 78923644], [78925571, 78925767], [78936337, 78936555], [78937967, 78938204], [78942924, 78943155], [78947348, 78947526], [78953145, 78953363], [78965743, 78965844], [78968948, 78969135], [78973428, 78977255]]	[[78506097, 78506289], [78547294, 78547399], [78601047, 78601161], [78638653, 78638797], [78641876, 78641953], [78682870, 78682959], [78686641, 78686814], [78710805, 78711018], [78722166, 78722267], [78749024, 78749128], [78771960, 78772078], [78773898, 78774087], [78784619, 78784756], [78789901, 78790045], [78794511, 78794614], [78796313, 78796507], [78799588, 78799673], [78803493, 78803591], [78804009, 78804139], [78804546, 78804662], [78842418, 78842521], [78848375, 78848512], [78853874, 78854081], [78855531, 78855600], [78907148, 78907191], [78910190, 78910327], [78911580, 78911781], [78923560, 78923644], [78925571, 78925767], [78936337, 78936555], [78937967, 78938204], [78942924, 78943155], [78947348, 78947526], [78953145, 78953363], [78965743, 78965844], [78968948, 78969135], [78973428, 78973838]]

Promoter

Chrom	Start	End	Description
chr9	78505554	78505573	CAGE_peak_2_at_PCSK5_5end
chr9	78505581	78505603	CAGE_peak_1_at_PCSK5_5end
chr9	78795825	78795828	CAGE_peak_3_at_PCSK5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I076358	76358517	76359831	1.07	[{'connected_gene': 'RFK', 'score': 0.28}, {'connected_gene': 'RBM22P5', 'score': 0.19}, {'connected_gene': 'PCSK5', 'score': 0.04}]
chr9	GH09I076362	76362096	76364359	0.89	[{'connected_gene': 'RFK', 'score': 0.29}, {'connected_gene': 'RBM22P5', 'score': 0.18}, {'connected_gene': 'PCSK5', 'score': 0.04}]
chr9	GH09I076371	76371801	76372401	0.83	[{'connected_gene': 'PCSK5', 'score': 9.79}, {'connected_gene': 'RFK', 'score': 6.57}, {'connected_gene': 'RBM22P5', 'score': 0.18}]
chr9	GH09I076369	76369401	76370001	0.95	[{'connected_gene': 'PCSK5', 'score': 9.8}, {'connected_gene': 'RFK', 'score': 0.34}, {'connected_gene': 'RBM22P5', 'score': 0.18}]
chr9	GH09I076372	76372587	76376124	1.17	[{'connected_gene': 'PCSK5', 'score': 9.79}, {'connected_gene': 'GCNT1', 'score': 6.62}, {'connected_gene': 'RFK', 'score': 6.58}, {'connected_gene': 'RBM22P5', 'score': 0.17}]
chr9	GH09I075850	75850585	75850734	0.2	[{'connected_gene': 'PCSK5', 'score': 10.84}, {'connected_gene': 'LOC105376091', 'score': 0.77}, {'connected_gene': 'OTX2P1', 'score': 0.13}]
chr9	GH09I076296	76296997	76298857	0.66	[{'connected_gene': 'PCSK5', 'score': 10.57}, {'connected_gene': 'RBM22P5', 'score': 0.44}, {'connected_gene': 'RFK', 'score': 0.15}]
chr9	GH09I076310	76310612	76312565	0.2	[{'connected_gene': 'PCSK5', 'score': 10.87}, {'connected_gene': 'RBM22P5', 'score': 0.34}, {'connected_gene': 'RFK', 'score': 0.18}]
chr9	GH09I076313	76313158	76314351	0.31	[{'connected_gene': 'PCSK5', 'score': 10.87}, {'connected_gene': 'RBM22P5', 'score': 0.31}, {'connected_gene': 'RFK', 'score': 0.18}]
chr9	GH09I076323	76323182	76324473	0.31	[{'connected_gene': 'PCSK5', 'score': 10.15}, {'connected_gene': 'RBM22P5', 'score': 0.28}, {'connected_gene': 'RFK', 'score': 0.19}]
chr9	GH09I076233	76233022	76233760	0.2	[{'connected_gene': 'PCSK5', 'score': 10.2}, {'connected_gene': 'RBM22P5', 'score': 0.23}, {'connected_gene': 'GC09M076176', 'score': 0.23}]
chr9	GH09I076223	76223175	76224798	0.38	[{'connected_gene': 'PCSK5', 'score': 9.75}, {'connected_gene': 'GC09M076176', 'score': 0.25}, {'connected_gene': 'RBM22P5', 'score': 0.21}]
chr9	GH09I076218	76218697	76219496	0.46	[{'connected_gene': 'PCSK5', 'score': 9.94}, {'connected_gene': 'GC09M076176', 'score': 0.26}, {'connected_gene': 'RBM22P5', 'score': 0.2}]
chr9	GH09I076219	76218425	76218439	0.2	[{'connected_gene': 'PCSK5', 'score': 9.94}, {'connected_gene': 'GC09M076176', 'score': 0.28}, {'connected_gene': 'RBM22P5', 'score': 0.2}]
chr9	GH09I076266	76266759	76268076	0.63	[{'connected_gene': 'PCSK5', 'score': 9.77}, {'connected_gene': 'RBM22P5', 'score': 0.34}, {'connected_gene': 'GC09M076176', 'score': 0.17}]
chr9	GH09I076180	76180271	76182279	0.66	[{'connected_gene': 'PCSK5', 'score': 9.87}, {'connected_gene': 'GC09M076176', 'score': 0.77}, {'connected_gene': 'RBM22P5', 'score': 0.14}]
chr9	GH09I076214	76214440	76216994	0.72	[{'connected_gene': 'PCSK5', 'score': 10.2}, {'connected_gene': 'GC09M076176', 'score': 0.28}, {'connected_gene': 'RBM22P5', 'score': 0.19}]
chr9	GH09I076114	76114265	76114414	0.2	[{'connected_gene': 'PCSK5', 'score': 9.76}, {'connected_gene': 'GC09P076127', 'score': 0.39}, {'connected_gene': 'GC09P076099', 'score': 0.39}]
chr9	GH09I076107	76107585	76107734	0.2	[{'connected_gene': 'PCSK5', 'score': 9.83}, {'connected_gene': 'GC09P076099', 'score': 0.44}, {'connected_gene': 'GC09P076127', 'score': 0.37}]
chr9	GH09I076109	76109998	76110582	0.2	[{'connected_gene': 'PCSK5', 'score': 9.83}, {'connected_gene': 'GC09P076099', 'score': 0.39}, {'connected_gene': 'GC09P076127', 'score': 0.37}]
chr9	GH09I076160	76160526	76163684	0.69	[{'connected_gene': 'PCSK5', 'score': 9.37}, {'connected_gene': 'GC09M076154', 'score': 0.39}, {'connected_gene': 'GC09P076127', 'score': 0.29}]
chr9	GH09I075988	75988677	75992354	0.2	[{'connected_gene': 'PCSK5', 'score': 18.41}, {'connected_gene': 'GC09P076099', 'score': 0.14}]
chr9	GH09I075992	75992936	75994307	0.52	[{'connected_gene': 'PCSK5', 'score': 19.9}, {'connected_gene': 'GC09P076099', 'score': 0.14}]
chr9	GH09I076023	76022485	76022634	0.2	[{'connected_gene': 'PCSK5', 'score': 10.29}, {'connected_gene': 'GC09P076099', 'score': 0.18}]
chr9	GH09I075920	75920511	75922105	0.4	[{'connected_gene': 'PCSK5', 'score': 17.31}, {'connected_gene': 'GC09P076099', 'score': 0.1}]
chr9	GH09I075903	75903688	75904769	0.89	[{'connected_gene': 'PCSK5', 'score': 10.45}, {'connected_gene': 'GC09P076099', 'score': 0.08}]
chr9	GH09I075961	75961927	75963033	0.4	[{'connected_gene': 'PCSK5', 'score': 10.47}, {'connected_gene': 'GC09P076099', 'score': 0.12}]
chr9	GH09I075930	75930801	75931000	0.51	[{'connected_gene': 'PCSK5', 'score': 11.27}, {'connected_gene': 'GC09P076099', 'score': 0.1}]
chr9	GH09I076044	76044351	76045941	0.31	[{'connected_gene': 'PCSK5', 'score': 10.2}, {'connected_gene': 'GC09P076099', 'score': 0.23}]
chr9	GH09I075918	75918265	75918454	0.31	[{'connected_gene': 'PCSK5', 'score': 11.42}, {'connected_gene': 'GC09P076099', 'score': 0.09}]
chr9	GH09I075950	75950302	75956599	0.67	[{'connected_gene': 'PCSK5', 'score': 19.53}, {'connected_gene': 'GC09P076099', 'score': 0.11}]
chr9	GH09I076048	76048323	76050148	0.2	[{'connected_gene': 'PCSK5', 'score': 10.39}, {'connected_gene': 'GC09P076099', 'score': 0.23}]
chr9	GH09I075960	75960305	75960454	0.2	[{'connected_gene': 'PCSK5', 'score': 10.49}, {'connected_gene': 'GC09P076099', 'score': 0.12}]
chr9	GH09I076022	76022751	76026265	0.72	[{'connected_gene': 'PCSK5', 'score': 10.29}, {'connected_gene': 'GC09P076099', 'score': 0.18}]
chr9	GH09I075902	75902290	75903033	0.31	[{'connected_gene': 'PCSK5', 'score': 0.39}, {'connected_gene': 'GC09P076099', 'score': 0.08}]
chr9	GH09I076027	76027525	76027674	0.43	[{'connected_gene': 'PCSK5', 'score': 10.29}, {'connected_gene': 'GC09P076099', 'score': 0.19}]
chr9	GH09I075889	75889462	75896934	2.33	[{'connected_gene': 'PCSK5', 'score': 561.87}, {'connected_gene': 'GC09P076099', 'score': 0.08}]
chr9	GH09I075909	75909775	75916832	0.69	[{'connected_gene': 'PCSK5', 'score': 22.08}, {'connected_gene': 'GC09P076099', 'score': 0.09}]
chr9	GH09I075963	75963807	75965400	0.2	[{'connected_gene': 'PCSK5', 'score': 20.14}, {'connected_gene': 'GC09P076099', 'score': 0.12}]
chr9	GH09I075982	75982190	75984469	0.2	[{'connected_gene': 'PCSK5', 'score': 17.29}, {'connected_gene': 'GC09P076099', 'score': 0.13}]
chr9	GH09I076021	76021972	76022190	0.2	[{'connected_gene': 'PCSK5', 'score': 10.55}, {'connected_gene': 'GC09P076099', 'score': 0.18}]
chr9	GH09I075905	75905179	75908862	0.8	[{'connected_gene': 'PCSK5', 'score': 10.43}, {'connected_gene': 'GC09P076099', 'score': 0.08}]
chr9	GH09I076824	76824790	76830390	0.43	[{'connected_gene': 'PRUNE2', 'score': 6.16}, {'connected_gene': 'PCSK5', 'score': 5.08}, {'connected_gene': 'ENSG00000277320', 'score': 0.26}, {'connected_gene': 'GC09M076829', 'score': 0.15}]
chr9	GH09I075851	75851122	75852143	0.2	[{'connected_gene': 'LOC105376091', 'score': 550.77}, {'connected_gene': 'PCSK5', 'score': 11.09}, {'connected_gene': 'RNU6-1228P', 'score': 10.21}, {'connected_gene': 'OTX2P1', 'score': 0.13}]
chr9	GH09I076303	76303085	76303234	0.54	[{'connected_gene': 'RBM22P5', 'score': 0.37}, {'connected_gene': 'RFK', 'score': 0.16}, {'connected_gene': 'PCSK5', 'score': 0.05}]
chr9	GH09I076320	76320796	76321954	0.69	[{'connected_gene': 'RBM22P5', 'score': 0.29}, {'connected_gene': 'RFK', 'score': 0.19}, {'connected_gene': 'PCSK5', 'score': 0.04}]
chr9	GH09I076314	76314668	76315362	0.2	[{'connected_gene': 'RBM22P5', 'score': 0.31}, {'connected_gene': 'RFK', 'score': 0.18}, {'connected_gene': 'PCSK5', 'score': 0.05}]
chr9	GH09I076298	76298865	76299009	0.38	[{'connected_gene': 'RBM22P5', 'score': 0.39}, {'connected_gene': 'RFK', 'score': 0.15}, {'connected_gene': 'PCSK5', 'score': 0.05}]
chr9	GH09I076269	76269437	76270764	0.46	[{'connected_gene': 'RBM22P5', 'score': 0.37}, {'connected_gene': 'GC09M076176', 'score': 0.16}, {'connected_gene': 'PCSK5', 'score': 0.05}]
chr9	GH09I076255	76255422	76257257	0.72	[{'connected_gene': 'RBM22P5', 'score': 0.29}, {'connected_gene': 'GC09M076176', 'score': 0.18}, {'connected_gene': 'PCSK5', 'score': 0.05}]
chr9	GH09I076136	76136853	76137302	0.76	[{'connected_gene': 'GC09P076127', 'score': 0.44}, {'connected_gene': 'GC09M076154', 'score': 0.28}, {'connected_gene': 'PCSK5', 'score': 0.07}]
chr9	GH09I076150	76150801	76151000	0.31	[{'connected_gene': 'GC09P076127', 'score': 0.34}, {'connected_gene': 'GC09M076154', 'score': 0.34}, {'connected_gene': 'PCSK5', 'score': 0.07}]
chr9	GH09I075994	75994912	75999057	0.46	[{'connected_gene': 'GC09P076099', 'score': 0.15}, {'connected_gene': 'PCSK5', 'score': 0.14}]
chr9	GH09I076040	76040165	76040314	0.2	[{'connected_gene': 'GC09P076099', 'score': 0.22}, {'connected_gene': 'PCSK5', 'score': 0.11}]
chr9	GH09I076101	76101279	76102470	0.2	[{'connected_gene': 'GC09P076099', 'score': 0.77}, {'connected_gene': 'GC09P076127', 'score': 0.31}, {'connected_gene': 'PCSK5', 'score': 0.08}]