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
ENST00000367261	[[202860227, 202861787], [202862366, 202862553], [202863311, 202863410], [202863718, 202863877], [202864649, 202864845], [202865981, 202866088], [202878137, 202878252], [202880181, 202880331], [202887298, 202887516], [202888882, 202889036], [202894095, 202894335], [202896216, 202896390]]	[[202861660, 202861787], [202862366, 202862553], [202863311, 202863410], [202863718, 202863877], [202864649, 202864845], [202865981, 202866088], [202878137, 202878252], [202880181, 202880331], [202887298, 202887516], [202888882, 202889036], [202894095, 202894290]]
ENST00000367259	[[202860243, 202861787], [202863311, 202863410], [202863718, 202863877], [202864649, 202864845], [202865981, 202866088], [202878137, 202878289]]	[[202861764, 202861787], [202863311, 202863410], [202863718, 202863877], [202864649, 202864845], [202865981, 202866088], [202878137, 202878168]]
ENST00000435533	[[202861532, 202861787], [202862366, 202862553], [202863311, 202863410], [202863718, 202863877], [202864649, 202864845], [202865981, 202866088], [202878137, 202878252], [202880181, 202880331], [202887298, 202887516], [202888882, 202889036], [202894095, 202894335], [202897608, 202897727]]	[[202861660, 202861787], [202862366, 202862553], [202863311, 202863410], [202863718, 202863877], [202864649, 202864845], [202865981, 202866088], [202878137, 202878252], [202880181, 202880331], [202887298, 202887516], [202888882, 202889036], [202894095, 202894335], [202897608, 202897677]]
ENST00000367258	[[202878137, 202878252], [202880181, 202880331], [202887298, 202887516], [202888882, 202889036], [202894095, 202894335], [202897608, 202897764]]	[[202878137, 202878252], [202880181, 202880331], [202887298, 202887516], [202888882, 202889036], [202894095, 202894335], [202897608, 202897677]]
NM_021633	[[202860223, 202861787], [202862366, 202862553], [202863311, 202863410], [202863718, 202863877], [202864649, 202864845], [202865981, 202866088], [202878137, 202878252], [202880181, 202880331], [202887298, 202887516], [202888882, 202889036], [202894095, 202894335], [202896216, 202896400]]	[[202861660, 202861787], [202862366, 202862553], [202863311, 202863410], [202863718, 202863877], [202864649, 202864845], [202865981, 202866088], [202878137, 202878252], [202880181, 202880331], [202887298, 202887516], [202888882, 202889036], [202894095, 202894290]]
NM_001303109	[[202860223, 202861787], [202862366, 202862553], [202863311, 202863410], [202863718, 202863877], [202878137, 202878252], [202880181, 202880331], [202887298, 202887516], [202888882, 202889036], [202894095, 202894335], [202896216, 202896400]]	[[202861660, 202861787], [202862366, 202862553], [202863311, 202863410], [202863718, 202863877], [202878137, 202878252], [202880181, 202880331], [202887298, 202887516], [202888882, 202889036], [202894095, 202894290]]
NM_001303051	[[202860223, 202861787], [202862366, 202862553], [202863311, 202863410], [202863718, 202863877], [202864649, 202864845], [202865981, 202866088], [202878137, 202878252], [202880181, 202880331], [202887298, 202887516], [202888882, 202889036], [202894095, 202894335], [202897608, 202897772]]	[[202861660, 202861787], [202862366, 202862553], [202863311, 202863410], [202863718, 202863877], [202864649, 202864845], [202865981, 202866088], [202878137, 202878252], [202880181, 202880331], [202887298, 202887516], [202888882, 202889036], [202894095, 202894335], [202897608, 202897677]]

Promoter

Chrom	Start	End	Description
chr1	202896271	202896282	CAGE_peak_2_at_KLHL12_5end
chr1	202896310	202896406	CAGE_peak_1_at_KLHL12_5end
chr1	202897724	202897727	CAGE_peak_4_at_KLHL12_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I203319	203319506	203329281	1.82	[{'connected_gene': 'ZC3H11A', 'score': 37.1}, {'connected_gene': 'HNRNPA1P59', 'score': 24.23}, {'connected_gene': 'ZBED6', 'score': 21.48}, {'connected_gene': 'FMOD', 'score': 17.2}, {'connected_gene': 'SNRPE', 'score': 11.59}, {'connected_gene': 'LOC100131747', 'score': 11.25}, {'connected_gene': 'BTG2', 'score': 10.74}, {'connected_gene': 'RPS27P8', 'score': 10.03}, {'connected_gene': 'KDM5B', 'score': 9.86}, {'connected_gene': 'TMEM183A', 'score': 2.51}, {'connected_gene': 'RABIF', 'score': 1.7}, {'connected_gene': 'KLHL12', 'score': 1.67}, {'connected_gene': 'LAX1', 'score': 1.65}, {'connected_gene': 'GC01M203320', 'score': 0.44}, {'connected_gene': 'RNU6-487P', 'score': 0.44}]
chr1	GH01I203479	203479839	203481922	1.21	[{'connected_gene': 'ZC3H11A', 'score': 29.39}, {'connected_gene': 'SNRPE', 'score': 25.95}, {'connected_gene': 'KLHL12', 'score': 11.26}, {'connected_gene': 'ZBED6', 'score': 10.84}, {'connected_gene': 'ENSG00000226330', 'score': 10.55}, {'connected_gene': 'RABIF', 'score': 5.5}, {'connected_gene': 'OPTC', 'score': 4.97}, {'connected_gene': 'PRELP', 'score': 0.44}, {'connected_gene': 'GC01M203457', 'score': 0.28}]
chr1	GH01I203526	203526153	203527481	1.31	[{'connected_gene': 'ZC3H11A', 'score': 96.38}, {'connected_gene': 'SNRPE', 'score': 81.05}, {'connected_gene': 'MDM4', 'score': 58.99}, {'connected_gene': 'ZBED6', 'score': 47.97}, {'connected_gene': 'KDM5B', 'score': 39.28}, {'connected_gene': 'KLHL12', 'score': 34.3}, {'connected_gene': 'PPP1R15B', 'score': 31.91}, {'connected_gene': 'HNRNPA1P59', 'score': 24.21}, {'connected_gene': 'PRELP', 'score': 20.21}, {'connected_gene': 'FMOD', 'score': 19.99}, {'connected_gene': 'OPTC', 'score': 11.61}, {'connected_gene': 'ATP2B4', 'score': 10.53}, {'connected_gene': 'LOC100131747', 'score': 9.27}, {'connected_gene': 'GC01M203457', 'score': 0.44}, {'connected_gene': 'GC01P203608', 'score': 0.18}]
chr1	GH01I203298	203298432	203310649	2.53	[{'connected_gene': 'LINC01136', 'score': 550.77}, {'connected_gene': 'BTG2', 'score': 550.77}, {'connected_gene': 'ZC3H11A', 'score': 50.43}, {'connected_gene': 'KLHL12', 'score': 33.21}, {'connected_gene': 'HNRNPA1P59', 'score': 24.05}, {'connected_gene': 'SNRPE', 'score': 22.98}, {'connected_gene': 'ZBED6', 'score': 20.47}, {'connected_gene': 'FMOD', 'score': 15.34}, {'connected_gene': 'PRELP', 'score': 12.43}, {'connected_gene': 'RPS27P8', 'score': 10.86}, {'connected_gene': 'SOX13', 'score': 10.8}, {'connected_gene': 'KDM5B', 'score': 9.87}, {'connected_gene': 'LINC01353', 'score': 0.37}]
chr1	GH01I203860	203860099	203863011	2.15	[{'connected_gene': 'SNRPE', 'score': 591.85}, {'connected_gene': 'GC01P203865', 'score': 550.77}, {'connected_gene': 'GC01P203862', 'score': 550.77}, {'connected_gene': 'ZC3H11A', 'score': 76.71}, {'connected_gene': 'MDM4', 'score': 71.45}, {'connected_gene': 'HNRNPA1P59', 'score': 41.79}, {'connected_gene': 'PPP1R15B', 'score': 39.97}, {'connected_gene': 'ZBED6', 'score': 28.76}, {'connected_gene': 'PRELP', 'score': 12.39}, {'connected_gene': 'ENSG00000240219', 'score': 11.39}, {'connected_gene': 'CYB5R1', 'score': 11.37}, {'connected_gene': 'KLHL12', 'score': 10.89}, {'connected_gene': 'SOX13', 'score': 10.85}, {'connected_gene': 'FMOD', 'score': 10.34}, {'connected_gene': 'LAX1', 'score': 6.89}, {'connected_gene': 'RPL35AP5', 'score': 0.31}]
chr1	GH01I202926	202926120	202928009	2.13	[{'connected_gene': 'KLHL12', 'score': 560.68}, {'connected_gene': 'SNRPE', 'score': 27.78}, {'connected_gene': 'ZC3H11A', 'score': 26.34}, {'connected_gene': 'ZBED6', 'score': 13.21}, {'connected_gene': 'ADIPOR1', 'score': 4.84}, {'connected_gene': 'GC01M202914', 'score': 0.39}, {'connected_gene': 'ENSG00000199471', 'score': 0.39}]
chr1	GH01I203695	203695919	203698592	0.64	[{'connected_gene': 'KLHL12', 'score': 11.26}, {'connected_gene': 'PIR31474', 'score': 0.34}, {'connected_gene': 'LOC100421749', 'score': 0.28}, {'connected_gene': 'ATP2B4', 'score': 0.19}]
chr1	GH01I202887	202887801	202889869	2.04	[{'connected_gene': 'RABIF', 'score': 550.77}, {'connected_gene': 'KLHL12', 'score': 9.82}, {'connected_gene': 'PIR34155', 'score': 0.44}]
chr1	GH01I202963	202963332	202969976	2.48	[{'connected_gene': 'CYB5R1', 'score': 570.46}, {'connected_gene': 'BTG2', 'score': 14.52}, {'connected_gene': 'ZC3H11A', 'score': 13.63}, {'connected_gene': 'KLHL12', 'score': 13.39}, {'connected_gene': 'LOC100506747', 'score': 11.1}, {'connected_gene': 'ADIPOR1', 'score': 10.86}, {'connected_gene': 'ELF3-AS1', 'score': 10.46}, {'connected_gene': 'PCAT6', 'score': 8.99}, {'connected_gene': 'KDM5B', 'score': 8.99}, {'connected_gene': 'LOC148709', 'score': 6.1}, {'connected_gene': 'LOC730222', 'score': 5.04}, {'connected_gene': 'RABIF', 'score': 2.87}, {'connected_gene': 'GC01M202941', 'score': 0.39}]
chr1	GH01I202956	202956288	202963077	2.26	[{'connected_gene': 'ADIPOR1', 'score': 562.0}, {'connected_gene': 'KLHL12', 'score': 14.37}, {'connected_gene': 'CYB5R1', 'score': 11.06}, {'connected_gene': 'LOC100506747', 'score': 10.67}, {'connected_gene': 'PTPRVP', 'score': 10.08}, {'connected_gene': 'PCAT6', 'score': 9.48}, {'connected_gene': 'KDM5B', 'score': 9.47}, {'connected_gene': 'LOC148709', 'score': 5.44}, {'connected_gene': 'GC01M202941', 'score': 0.37}]
chr1	GH01I202938	202938702	202939601	0.75	[{'connected_gene': 'ADIPOR1', 'score': 7.12}, {'connected_gene': 'KLHL12', 'score': 0.39}, {'connected_gene': 'GC01P202952', 'score': 0.39}]
chr1	GH01I203156	203156813	203158461	0.31	[{'connected_gene': 'KDM5B', 'score': 14.51}, {'connected_gene': 'KLHL12', 'score': 11.94}, {'connected_gene': 'ENSG00000224671', 'score': 0.44}, {'connected_gene': 'MYBPH', 'score': 0.37}, {'connected_gene': 'ADORA1', 'score': 0.2}]
chr1	GH01I203284	203284402	203292791	1.83	[{'connected_gene': 'LINC01353', 'score': 556.14}, {'connected_gene': 'BTG2', 'score': 31.96}, {'connected_gene': 'RNU6-487P', 'score': 12.75}, {'connected_gene': 'KDM5B', 'score': 10.53}, {'connected_gene': 'FMOD', 'score': 9.94}, {'connected_gene': 'LOC100131747', 'score': 9.94}, {'connected_gene': 'RABIF', 'score': 3.51}, {'connected_gene': 'ADIPOR1', 'score': 1.93}, {'connected_gene': 'KLHL12', 'score': 1.48}, {'connected_gene': 'LINC01136', 'score': 0.37}, {'connected_gene': 'GC01P203263', 'score': 0.31}]
chr1	GH01I203005	203005419	203008601	2.1	[{'connected_gene': 'LOC100506747', 'score': 562.71}, {'connected_gene': 'TMEM183A', 'score': 550.77}, {'connected_gene': 'KDM5B', 'score': 34.96}, {'connected_gene': 'ZC3H11A', 'score': 33.95}, {'connected_gene': 'ELF3-AS1', 'score': 18.12}, {'connected_gene': 'KLHL12', 'score': 11.66}, {'connected_gene': 'CYB5R1', 'score': 11.19}, {'connected_gene': 'HNRNPA1P59', 'score': 10.43}, {'connected_gene': 'PCAT6', 'score': 10.31}, {'connected_gene': 'RPS27P8', 'score': 9.67}, {'connected_gene': 'RPS20P8', 'score': 0.44}]
chr1	GH01I202952	202952155	202954000	0.96	[{'connected_gene': 'GC01P202952', 'score': 550.77}, {'connected_gene': 'KLHL12', 'score': 11.78}, {'connected_gene': 'KDM5B', 'score': 9.98}, {'connected_gene': 'PCAT6', 'score': 9.98}, {'connected_gene': 'ADIPOR1', 'score': 9.07}, {'connected_gene': 'CYB5R1', 'score': 5.94}, {'connected_gene': 'GC01M202941', 'score': 0.34}]
chr1	GH01I202954	202954201	202954800	0.63	[{'connected_gene': 'GC01P202952', 'score': 550.77}, {'connected_gene': 'KLHL12', 'score': 11.75}, {'connected_gene': 'KDM5B', 'score': 9.98}, {'connected_gene': 'PCAT6', 'score': 9.98}, {'connected_gene': 'ADIPOR1', 'score': 0.77}, {'connected_gene': 'GC01M202941', 'score': 0.34}]