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
ENST00000450633	[[127291911, 127292631], [127294027, 127294108], [127294245, 127294348], [127294591, 127294652], [127294782, 127294893], [127295459, 127295539], [127295663, 127295736], [127295832, 127295919], [127298582, 127298715], [127298864, 127299280]]	[[127292363, 127292631], [127294027, 127294108], [127294245, 127294348], [127294591, 127294652], [127294782, 127294893], [127295459, 127295539], [127295663, 127295736], [127295832, 127295919], [127298582, 127298715], [127298864, 127298989]]
ENST00000296210	[[127291911, 127292631], [127294027, 127294108], [127294782, 127294893], [127295459, 127295539], [127295663, 127295736], [127295832, 127295919], [127298582, 127298715], [127298864, 127299006], [127309252, 127309550]]	[[127292439, 127292631], [127294027, 127294108], [127294782, 127294893], [127295459, 127295539], [127295663, 127295736], [127295832, 127295919], [127298582, 127298715], [127298864, 127298989]]
ENST00000355552	[[127291929, 127292631], [127294027, 127294108], [127294245, 127294348], [127294591, 127294652], [127294782, 127294893], [127295459, 127295539], [127295663, 127295736], [127295832, 127295919], [127298582, 127298715], [127298864, 127299006], [127309252, 127309612]]	[[127292363, 127292631], [127294027, 127294108], [127294245, 127294348], [127294591, 127294652], [127294782, 127294893], [127295459, 127295539], [127295663, 127295736], [127295832, 127295919], [127298582, 127298715], [127298864, 127298989]]
ENST00000393400	[[127291935, 127292631], [127294027, 127294108], [127294245, 127294348], [127294782, 127294893], [127295459, 127295539], [127295663, 127295736], [127295832, 127295919], [127298582, 127298715], [127298864, 127299006], [127309252, 127309577]]	[[127294100, 127294108], [127294245, 127294348], [127294782, 127294893], [127295459, 127295539], [127295663, 127295736], [127295832, 127295919], [127298582, 127298715], [127298864, 127298989]]
ENST00000483868	[[127291973, 127292631], [127294027, 127294108], [127294591, 127294652], [127294782, 127294893], [127295459, 127295539], [127295663, 127295736], [127295832, 127295919], [127298582, 127298715], [127298864, 127299006], [127309252, 127309546]]	[[127294100, 127294108], [127294591, 127294652], [127294782, 127294893], [127295459, 127295539], [127295663, 127295736], [127295832, 127295919], [127298582, 127298715], [127298864, 127298989]]
ENST00000489960	[[127291988, 127292631], [127294027, 127294108], [127294245, 127294348], [127294591, 127294652], [127294782, 127294893], [127295459, 127295539], [127295663, 127295736], [127295832, 127295919], [127298582, 127298715], [127298864, 127299006], [127309252, 127309435], [127309725, 127309931]]	[[127292363, 127292631], [127294027, 127294108], [127294245, 127294348], [127294591, 127294652], [127294782, 127294893], [127295459, 127295539], [127295663, 127295736], [127295832, 127295919], [127298582, 127298715], [127298864, 127298989]]
ENST00000465915	[[127293820, 127294108], [127294245, 127294526]]	None
ENST00000490290	[[127294780, 127294893], [127295459, 127295539], [127295663, 127295736], [127295832, 127295919], [127298582, 127298715], [127298864, 127299006], [127309725, 127309938]]	[[127294780, 127294893], [127295459, 127295539], [127295663, 127295736], [127295832, 127295919], [127298582, 127298715], [127298864, 127298989]]
ENST00000469111	[[127294782, 127294893], [127295459, 127295539], [127295663, 127295736], [127295832, 127295919], [127298582, 127298715], [127298864, 127299006], [127306912, 127307003], [127309252, 127309542]]	[[127294782, 127294893], [127295459, 127295539], [127295663, 127295736], [127295832, 127295919], [127298582, 127298715], [127298864, 127298989]]
ENST00000490643	[[127295458, 127295539], [127295663, 127295736], [127295832, 127295919], [127298582, 127298715], [127298864, 127299006], [127310732, 127310793], [127313642, 127313776], [127317038, 127317094]]	[[127295458, 127295539], [127295663, 127295736], [127295832, 127295919], [127298582, 127298715], [127298864, 127298989]]
ENST00000462228	[[127298864, 127299006], [127313642, 127313776], [127314294, 127314533], [127316849, 127317047]]	[[127298864, 127298989]]
NM_001136053	[[127291906, 127292631], [127294027, 127294108], [127294245, 127294348], [127294591, 127294652], [127294782, 127294893], [127295459, 127295539], [127295663, 127295736], [127295832, 127295919], [127298582, 127298715], [127298864, 127299006], [127309252, 127309602]]	[[127292363, 127292631], [127294027, 127294108], [127294245, 127294348], [127294591, 127294652], [127294782, 127294893], [127295459, 127295539], [127295663, 127295736], [127295832, 127295919], [127298582, 127298715], [127298864, 127298989]]
NR_073377	[[127291906, 127292631], [127294027, 127294108], [127294245, 127294348], [127294782, 127294893], [127295459, 127295539], [127295663, 127295736], [127295832, 127295919], [127298582, 127298715], [127298864, 127299006], [127309252, 127309602]]	None
NM_001142646	[[127291906, 127292631], [127294027, 127294108], [127294782, 127294893], [127295459, 127295539], [127295663, 127295736], [127295832, 127295919], [127298582, 127298715], [127298864, 127299006], [127309252, 127309602]]	[[127292439, 127292631], [127294027, 127294108], [127294782, 127294893], [127295459, 127295539], [127295663, 127295736], [127295832, 127295919], [127298582, 127298715], [127298864, 127298989]]

Promoter

Chrom	Start	End	Description
chr3	127309318	127309386	CAGE_peak_2_at_TPRA1_5end
chr3	127309521	127309538	CAGE_peak_5_at_TPRA1_5end
chr3	127309551	127309584	CAGE_peak_1_at_TPRA1_5end
chr3	127309879	127309930	CAGE_peak_3_at_TPRA1_5end
chr3	127317057	127317088	CAGE_peak_6_at_TPRA1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I127847	127847146	127850363	0.54	[{'connected_gene': 'ABTB1', 'score': 11.15}, {'connected_gene': 'PODXL2', 'score': 10.14}, {'connected_gene': 'MCM2', 'score': 10.0}, {'connected_gene': 'TPRA1', 'score': 10.0}, {'connected_gene': 'LOC105374096', 'score': 0.44}, {'connected_gene': 'GC03M127760', 'score': 0.39}]
chr3	GH03I127671	127671500	127674261	2.08	[{'connected_gene': 'ABTB1', 'score': 559.69}, {'connected_gene': 'GC03P127673', 'score': 550.77}, {'connected_gene': 'GC03P127674', 'score': 550.77}, {'connected_gene': 'TPRA1', 'score': 12.46}, {'connected_gene': 'PODXL2', 'score': 10.51}]
chr3	GH03I126981	126981514	126985796	1.74	[{'connected_gene': 'PLXNA1', 'score': 570.71}, {'connected_gene': 'TPRA1', 'score': 15.22}, {'connected_gene': 'PIR55562', 'score': 0.23}, {'connected_gene': 'GC03P126709', 'score': 0.06}]
chr3	GH03I127652	127652258	127652407	0.64	[{'connected_gene': 'PODXL2', 'score': 12.29}, {'connected_gene': 'ABTB1', 'score': 12.26}, {'connected_gene': 'MCM2', 'score': 11.22}, {'connected_gene': 'TPRA1', 'score': 11.22}, {'connected_gene': 'GC03P127673', 'score': 0.34}, {'connected_gene': 'GC03P127674', 'score': 0.34}]
chr3	GH03I127683	127683401	127684067	0.76	[{'connected_gene': 'PODXL2', 'score': 11.67}, {'connected_gene': 'MCM2', 'score': 10.58}, {'connected_gene': 'TPRA1', 'score': 10.58}, {'connected_gene': 'ABTB1', 'score': 4.72}, {'connected_gene': 'MGLL', 'score': 0.12}]
chr3	GH03I127764	127764972	127766475	0.63	[{'connected_gene': 'PODXL2', 'score': 10.4}, {'connected_gene': 'MCM2', 'score': 10.27}, {'connected_gene': 'TPRA1', 'score': 10.27}, {'connected_gene': 'MGLL', 'score': 8.65}, {'connected_gene': 'GC03M127760', 'score': 0.2}, {'connected_gene': 'ABTB1', 'score': 0.16}]
chr3	GH03I127655	127655800	127656001	0.54	[{'connected_gene': 'PODXL2', 'score': 12.26}, {'connected_gene': 'MCM2', 'score': 11.21}, {'connected_gene': 'TPRA1', 'score': 11.21}, {'connected_gene': 'GC03P127673', 'score': 0.37}, {'connected_gene': 'GC03P127674', 'score': 0.37}]
chr3	GH03I127688	127688107	127692079	1.06	[{'connected_gene': 'PODXL2', 'score': 20.97}, {'connected_gene': 'TPRA1', 'score': 9.31}, {'connected_gene': 'ABTB1', 'score': 4.84}, {'connected_gene': 'MGLL', 'score': 0.12}]
chr3	GH03I127753	127753433	127756579	1.51	[{'connected_gene': 'PODXL2', 'score': 5.05}, {'connected_gene': 'MGLL', 'score': 4.87}, {'connected_gene': 'TPRA1', 'score': 3.36}, {'connected_gene': 'ABTB1', 'score': 0.18}]
chr3	GH03I127637	127637658	127637867	0.38	[{'connected_gene': 'MCM2', 'score': 11.46}, {'connected_gene': 'TPRA1', 'score': 11.46}, {'connected_gene': 'ABTB1', 'score': 11.13}, {'connected_gene': 'PODXL2', 'score': 0.44}, {'connected_gene': 'GC03P127673', 'score': 0.29}, {'connected_gene': 'GC03P127674', 'score': 0.29}]
chr3	GH03I127639	127639120	127640310	0.31	[{'connected_gene': 'MCM2', 'score': 11.07}, {'connected_gene': 'TPRA1', 'score': 11.07}, {'connected_gene': 'PODXL2', 'score': 0.39}, {'connected_gene': 'GC03P127673', 'score': 0.29}, {'connected_gene': 'GC03P127674', 'score': 0.29}]
chr3	GH03I127600	127600284	127601065	0.43	[{'connected_gene': 'MCM2', 'score': 0.77}, {'connected_gene': 'TPRA1', 'score': 0.77}, {'connected_gene': 'PODXL2', 'score': 0.31}]
chr3	GH03I128067	128067705	128068186	0.6	[{'connected_gene': 'MCM2', 'score': 9.58}, {'connected_gene': 'TPRA1', 'score': 9.58}, {'connected_gene': 'SEC61A1', 'score': 9.15}, {'connected_gene': 'RNU2-37P', 'score': 0.44}, {'connected_gene': 'GC03M128076', 'score': 0.44}, {'connected_gene': 'LOC102723759', 'score': 0.37}, {'connected_gene': 'RUVBL1', 'score': 0.17}]
chr3	GH03I127910	127910699	127912129	0.4	[{'connected_gene': 'MCM2', 'score': 10.2}, {'connected_gene': 'TPRA1', 'score': 10.2}, {'connected_gene': 'KBTBD12', 'score': 10.07}, {'connected_gene': 'PODXL2', 'score': 9.84}, {'connected_gene': 'GC03P127895', 'score': 0.37}]
chr3	GH03I127766	127766999	127779089	1.57	[{'connected_gene': 'MCM2', 'score': 15.21}, {'connected_gene': 'TPRA1', 'score': 13.82}, {'connected_gene': 'MGLL', 'score': 11.36}, {'connected_gene': 'ABTB1', 'score': 11.2}, {'connected_gene': 'PODXL2', 'score': 10.84}, {'connected_gene': 'GC03M127760', 'score': 0.21}]
chr3	GH03I128407	128407760	128418494	1.73	[{'connected_gene': 'GATA2', 'score': 27.5}, {'connected_gene': 'DNAJB8', 'score': 19.43}, {'connected_gene': 'ENSG00000244932', 'score': 15.66}, {'connected_gene': 'RPL32P3', 'score': 14.84}, {'connected_gene': 'H1FX-AS1', 'score': 14.81}, {'connected_gene': 'TPRA1', 'score': 14.35}, {'connected_gene': 'DNAJB8-AS1', 'score': 11.02}, {'connected_gene': 'EFCC1', 'score': 10.6}, {'connected_gene': 'EEFSEC', 'score': 1.39}, {'connected_gene': 'LINC01565', 'score': 1.23}, {'connected_gene': 'GC03M128409', 'score': 0.44}, {'connected_gene': 'GC03P128380', 'score': 0.29}]
chr3	GH03I128079	128079065	128082560	1.36	[{'connected_gene': 'GATA2', 'score': 22.67}, {'connected_gene': 'TPRA1', 'score': 14.36}, {'connected_gene': 'EFCC1', 'score': 10.6}, {'connected_gene': 'SEC61A1', 'score': 9.53}, {'connected_gene': 'EEFSEC', 'score': 7.24}, {'connected_gene': 'DNAJB8', 'score': 2.52}, {'connected_gene': 'RUVBL1-AS1', 'score': 0.44}, {'connected_gene': 'PIR39032', 'score': 0.22}, {'connected_gene': 'RUVBL1', 'score': 0.19}]
chr3	GH03I127666	127666331	127668116	0.31	[{'connected_gene': 'TPRA1', 'score': 12.45}, {'connected_gene': 'ABTB1', 'score': 9.43}, {'connected_gene': 'GC03P127673', 'score': 0.44}, {'connected_gene': 'GC03P127674', 'score': 0.44}, {'connected_gene': 'PODXL2', 'score': 0.28}]
chr3	GH03I127734	127733158	127733307	0.97	[{'connected_gene': 'TPRA1', 'score': 14.44}, {'connected_gene': 'ABTB1', 'score': 0.21}, {'connected_gene': 'MGLL', 'score': 0.16}]
chr3	GH03I127696	127696002	127702538	1.3	[{'connected_gene': 'TPRA1', 'score': 17.51}, {'connected_gene': 'ABTB1', 'score': 5.33}, {'connected_gene': 'MGLL', 'score': 0.13}]
chr3	GH03I127713	127713601	127714600	0.63	[{'connected_gene': 'TPRA1', 'score': 5.2}, {'connected_gene': 'ABTB1', 'score': 0.26}, {'connected_gene': 'MGLL', 'score': 0.14}]
chr3	GH03I127731	127731502	127733000	1.2	[{'connected_gene': 'TPRA1', 'score': 18.15}, {'connected_gene': 'ABTB1', 'score': 0.22}, {'connected_gene': 'MGLL', 'score': 0.16}]
chr3	GH03I127677	127677041	127679695	0.56	[{'connected_gene': 'TPRA1', 'score': 10.31}, {'connected_gene': 'PODXL2', 'score': 10.29}, {'connected_gene': 'ABTB1', 'score': 9.36}, {'connected_gene': 'MGLL', 'score': 0.11}]
chr3	GH03I127588	127588658	127593397	2.24	[{'connected_gene': 'TPRA1', 'score': 569.29}, {'connected_gene': 'PIR40762', 'score': 550.77}, {'connected_gene': 'PODXL2', 'score': 18.86}, {'connected_gene': 'ABTB1', 'score': 9.28}, {'connected_gene': 'MIR7976', 'score': 0.77}]
chr3	GH03I127719	127719838	127726251	0.57	[{'connected_gene': 'TPRA1', 'score': 19.36}, {'connected_gene': 'PODXL2', 'score': 10.79}, {'connected_gene': 'EEFSEC', 'score': 10.32}, {'connected_gene': 'ABTB1', 'score': 0.23}, {'connected_gene': 'MGLL', 'score': 0.15}]
chr3	GH03I127546	127546691	127548612	1.28	[{'connected_gene': 'TPRA1', 'score': 8.54}, {'connected_gene': 'PODXL2', 'score': 4.3}, {'connected_gene': 'KBTBD12', 'score': 1.83}, {'connected_gene': 'LINC02034', 'score': 0.44}, {'connected_gene': 'ENSG00000282860', 'score': 0.34}]
chr3	GH03I127597	127597201	127599908	2.43	[{'connected_gene': 'TPRA1', 'score': 577.07}, {'connected_gene': 'MCM2', 'score': 550.77}, {'connected_gene': 'PODXL2', 'score': 0.29}]
chr3	GH03I127779	127779459	127782825	1.14	[{'connected_gene': 'TPRA1', 'score': 20.68}, {'connected_gene': 'SEC61A1', 'score': 10.4}, {'connected_gene': 'MGLL', 'score': 0.26}, {'connected_gene': 'GC03M127760', 'score': 0.23}, {'connected_gene': 'ABTB1', 'score': 0.14}]
chr3	GH03I127888	127888291	127891480	1.41	[{'connected_gene': 'TPRA1', 'score': 24.52}, {'connected_gene': 'KBTBD12', 'score': 11.87}, {'connected_gene': 'PODXL2', 'score': 9.97}, {'connected_gene': 'GC03P127885', 'score': 0.77}, {'connected_gene': 'GC03P127895', 'score': 0.44}]
chr3	GH03I127743	127743601	127752600	1.63	[{'connected_gene': 'TPRA1', 'score': 11.58}, {'connected_gene': 'MGLL', 'score': 5.79}, {'connected_gene': 'ABTB1', 'score': 0.18}]
chr3	GH03I127733	127733657	127737799	1.43	[{'connected_gene': 'TPRA1', 'score': 10.22}, {'connected_gene': 'MGLL', 'score': 7.91}, {'connected_gene': 'ABTB1', 'score': 0.21}]
chr3	GH03I127729	127729109	127730999	1.34	[{'connected_gene': 'TPRA1', 'score': 9.53}, {'connected_gene': 'MGLL', 'score': 3.95}, {'connected_gene': 'ABTB1', 'score': 0.22}]
chr3	GH03I127543	127543330	127544904	0.89	[{'connected_gene': 'TPRA1', 'score': 11.06}, {'connected_gene': 'LINC02034', 'score': 0.44}, {'connected_gene': 'ENSG00000282860', 'score': 0.31}]
chr3	GH03I127542	127542121	127543070	0.72	[{'connected_gene': 'TPRA1', 'score': 5.22}, {'connected_gene': 'LINC02034', 'score': 0.77}, {'connected_gene': 'ENSG00000282860', 'score': 0.31}]
chr3	GH03I127299	127299264	127299618	0.26	[{'connected_gene': 'TPRA1', 'score': 2.75}, {'connected_gene': 'LOC100419008', 'score': 0.39}, {'connected_gene': 'GC03P127321', 'score': 0.34}]
chr3	GH03I127813	127813876	127824143	2.66	[{'connected_gene': 'MGLL', 'score': 554.56}, {'connected_gene': 'RUVBL1', 'score': 10.78}, {'connected_gene': 'TPRA1', 'score': 1.46}, {'connected_gene': 'KBTBD12', 'score': 1.45}, {'connected_gene': 'GC03M127760', 'score': 0.37}, {'connected_gene': 'ABTB1', 'score': 0.11}]
chr3	GH03I127801	127801842	127805840	1.32	[{'connected_gene': 'MGLL', 'score': 2.79}, {'connected_gene': 'TPRA1', 'score': 1.94}, {'connected_gene': 'GC03M127760', 'score': 0.29}, {'connected_gene': 'ABTB1', 'score': 0.12}]
chr3	GH03I127574	127574578	127575837	1.01	[{'connected_gene': 'MIR6825', 'score': 550.77}, {'connected_gene': 'MCM2', 'score': 12.02}, {'connected_gene': 'TPRA1', 'score': 12.02}, {'connected_gene': 'PODXL2', 'score': 11.32}, {'connected_gene': 'ENSG00000282860', 'score': 0.77}]
chr3	GH03I127586	127585198	127585347	0.63	[{'connected_gene': 'MIR7976', 'score': 550.77}, {'connected_gene': 'ABTB1', 'score': 11.25}, {'connected_gene': 'PODXL2', 'score': 11.12}, {'connected_gene': 'MIR6825', 'score': 0.44}, {'connected_gene': 'TPRA1', 'score': 0.39}]
chr3	GH03I127585	127585378	127585527	0.6	[{'connected_gene': 'MIR7976', 'score': 550.77}, {'connected_gene': 'ABTB1', 'score': 11.25}, {'connected_gene': 'PODXL2', 'score': 11.12}, {'connected_gene': 'MIR6825', 'score': 0.39}, {'connected_gene': 'TPRA1', 'score': 0.39}]
chr3	GH03I128481	128481848	128493649	2.24	[{'connected_gene': 'GATA2-AS1', 'score': 558.69}, {'connected_gene': 'GATA2', 'score': 550.44}, {'connected_gene': 'RPL32P3', 'score': 23.49}, {'connected_gene': 'ISY1', 'score': 13.72}, {'connected_gene': 'TPRA1', 'score': 12.95}, {'connected_gene': 'DNAJB8', 'score': 12.61}, {'connected_gene': 'DNAJB8-AS1', 'score': 11.97}, {'connected_gene': 'H1FX', 'score': 11.32}, {'connected_gene': 'H1FX-AS1', 'score': 10.93}, {'connected_gene': 'IFT122', 'score': 10.85}, {'connected_gene': 'ENSG00000244932', 'score': 9.85}, {'connected_gene': 'TMED10P2', 'score': 6.26}, {'connected_gene': 'POU5F1P6', 'score': 4.39}]
chr3	GH03I127705	127705217	127711944	0.67	[{'connected_gene': 'LINC01471', 'score': 7.43}, {'connected_gene': 'ABTB1', 'score': 5.25}, {'connected_gene': 'TPRA1', 'score': 4.74}, {'connected_gene': 'MGLL', 'score': 0.14}]
chr3	GH03I127455	127455100	127457532	1.03	[{'connected_gene': 'LINC02016', 'score': 6.12}, {'connected_gene': 'TPRA1', 'score': 4.64}, {'connected_gene': 'ENSG00000240562', 'score': 0.29}]
chr3	GH03I127825	127825829	127826214	0.37	[{'connected_gene': 'GC03P127827', 'score': 550.77}, {'connected_gene': 'ABTB1', 'score': 11.45}, {'connected_gene': 'MCM2', 'score': 10.49}, {'connected_gene': 'TPRA1', 'score': 10.49}, {'connected_gene': 'MGLL', 'score': 0.77}, {'connected_gene': 'GC03M127760', 'score': 0.44}]
chr3	GH03I127832	127832474	127833986	0.46	[{'connected_gene': 'GC03M127760', 'score': 550.77}, {'connected_gene': 'ABTB1', 'score': 11.44}, {'connected_gene': 'TPRA1', 'score': 10.49}, {'connected_gene': 'MCM2', 'score': 10.48}, {'connected_gene': 'GC03P127828', 'score': 0.77}]