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
ENST00000475157	[[203274618, 203274876], [203276231, 203276816], [203278265, 203278697]]	[[203274734, 203274876], [203276231, 203276566]]
ENST00000290551	[[203274663, 203274876], [203276231, 203278730]]	[[203274734, 203274876], [203276231, 203276566]]
NM_006763	[[203274663, 203274876], [203276231, 203278730]]	[[203274734, 203274876], [203276231, 203276566]]

Promoter

Chrom	Start	End	Description
chr1	203274639	203274654	CAGE_peak_1_at_BTG2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I203312	203311494	203312459	1.17	[{'connected_gene': 'ZC3H11A', 'score': 21.59}, {'connected_gene': 'HNRNPA1P59', 'score': 12.58}, {'connected_gene': 'ZBED6', 'score': 11.26}, {'connected_gene': 'SNRPE', 'score': 10.98}, {'connected_gene': 'RPS27P8', 'score': 10.86}, {'connected_gene': 'GC01M203320', 'score': 0.44}, {'connected_gene': 'RNU6-487P', 'score': 0.44}, {'connected_gene': 'BTG2', 'score': 0.44}]
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	GH01I203315	203315629	203318451	1.26	[{'connected_gene': 'ZC3H11A', 'score': 14.55}, {'connected_gene': 'KDM5B', 'score': 10.55}, {'connected_gene': 'FMOD', 'score': 4.91}, {'connected_gene': 'GC01M203320', 'score': 0.77}, {'connected_gene': 'RNU6-487P', 'score': 0.77}, {'connected_gene': 'BTG2', 'score': 0.39}]
chr1	GH01I203276	203276452	203284323	1.57	[{'connected_gene': 'BTG2', 'score': 19.58}, {'connected_gene': 'SNRPE', 'score': 14.95}, {'connected_gene': 'LINC01136', 'score': 13.26}, {'connected_gene': 'RNU6-487P', 'score': 13.05}, {'connected_gene': 'LOC100506672', 'score': 10.87}, {'connected_gene': 'KDM5B', 'score': 10.76}, {'connected_gene': 'ZBED6', 'score': 10.72}, {'connected_gene': 'ZC3H11A', 'score': 10.48}, {'connected_gene': 'FMOD', 'score': 10.28}, {'connected_gene': 'LOC100131747', 'score': 10.28}, {'connected_gene': 'OPTC', 'score': 10.25}, {'connected_gene': 'PRELP', 'score': 9.59}, {'connected_gene': 'LINC01353', 'score': 6.43}, {'connected_gene': 'RABIF', 'score': 1.28}, {'connected_gene': 'TMEM183A', 'score': 1.27}, {'connected_gene': 'CHIT1', 'score': 0.44}, {'connected_gene': 'GC01P203263', 'score': 0.37}]
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	GH01I203266	203266853	203268209	1.27	[{'connected_gene': 'LINC01136', 'score': 11.7}, {'connected_gene': 'BTG2', 'score': 11.7}, {'connected_gene': 'RNU6-487P', 'score': 11.63}, {'connected_gene': 'PPFIA4', 'score': 11.52}, {'connected_gene': 'FMOD', 'score': 10.83}, {'connected_gene': 'LOC100131747', 'score': 10.82}, {'connected_gene': 'ADORA1', 'score': 10.68}, {'connected_gene': 'ENSG00000224671', 'score': 10.6}, {'connected_gene': 'OPTC', 'score': 10.53}, {'connected_gene': 'CHI3L1', 'score': 10.27}, {'connected_gene': 'PRELP', 'score': 10.04}, {'connected_gene': 'GC01P203263', 'score': 0.77}, {'connected_gene': 'CHIT1', 'score': 0.44}]
chr1	GH01I203344	203344019	203344927	0.2	[{'connected_gene': 'LINC01136', 'score': 11.49}, {'connected_gene': 'BTG2', 'score': 11.49}, {'connected_gene': 'RNU6-487P', 'score': 11.46}, {'connected_gene': 'PRELP', 'score': 10.54}, {'connected_gene': 'ATP2B4', 'score': 9.96}, {'connected_gene': 'ENSG00000224671', 'score': 9.62}, {'connected_gene': 'ADORA1', 'score': 9.61}, {'connected_gene': 'FMOD', 'score': 0.44}, {'connected_gene': 'GC01M203320', 'score': 0.31}]
chr1	GH01I203342	203342153	203343081	1.07	[{'connected_gene': 'LINC01136', 'score': 11.49}, {'connected_gene': 'BTG2', 'score': 11.49}, {'connected_gene': 'RNU6-487P', 'score': 11.49}, {'connected_gene': 'PRELP', 'score': 10.42}, {'connected_gene': 'ENSG00000224671', 'score': 9.62}, {'connected_gene': 'ADORA1', 'score': 9.61}, {'connected_gene': 'FMOD', 'score': 6.35}, {'connected_gene': 'GC01M203320', 'score': 0.34}]
chr1	GH01I203268	203268544	203269662	1.27	[{'connected_gene': 'LINC01136', 'score': 11.7}, {'connected_gene': 'BTG2', 'score': 11.7}, {'connected_gene': 'RNU6-487P', 'score': 11.65}, {'connected_gene': 'OPTC', 'score': 10.53}, {'connected_gene': 'FMOD', 'score': 10.36}, {'connected_gene': 'LOC100131747', 'score': 10.36}, {'connected_gene': 'PRELP', 'score': 9.85}, {'connected_gene': 'CHIT1', 'score': 7.87}, {'connected_gene': 'GC01P203263', 'score': 0.44}]
chr1	GH01I203329	203329613	203330344	0.43	[{'connected_gene': 'LINC01136', 'score': 12.83}, {'connected_gene': 'BTG2', 'score': 12.83}, {'connected_gene': 'LOC100131747', 'score': 11.28}, {'connected_gene': 'FMOD', 'score': 11.28}, {'connected_gene': 'GC01M203320', 'score': 0.39}, {'connected_gene': 'RNU6-487P', 'score': 0.39}]
chr1	GH01I203669	203669601	203677579	1.64	[{'connected_gene': 'SNRPE', 'score': 17.3}, {'connected_gene': 'ZC3H11A', 'score': 16.19}, {'connected_gene': 'ATP2B4', 'score': 13.31}, {'connected_gene': 'ZBED6', 'score': 13.3}, {'connected_gene': 'SOX13', 'score': 10.93}, {'connected_gene': 'MDM4', 'score': 10.59}, {'connected_gene': 'SNORA77', 'score': 10.59}, {'connected_gene': 'LAX1', 'score': 5.37}, {'connected_gene': 'BTG2', 'score': 1.53}, {'connected_gene': 'LOC100421749', 'score': 0.37}, {'connected_gene': 'PIR31474', 'score': 0.25}, {'connected_gene': 'GC01P203608', 'score': 0.21}]
chr1	GH01I203763	203763464	203766632	1.84	[{'connected_gene': 'LAX1', 'score': 604.03}, {'connected_gene': 'SOX13', 'score': 11.38}, {'connected_gene': 'BTG2', 'score': 1.21}, {'connected_gene': 'LOC102723543', 'score': 0.34}, {'connected_gene': 'GC01M203753', 'score': 0.26}]
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	GH01I203624	203624569	203631789	2.8	[{'connected_gene': 'ATP2B4', 'score': 550.77}, {'connected_gene': 'ZC3H11A', 'score': 37.89}, {'connected_gene': 'SNRPE', 'score': 27.53}, {'connected_gene': 'MDM4', 'score': 23.16}, {'connected_gene': 'ZBED6', 'score': 21.28}, {'connected_gene': 'KDM5B', 'score': 16.29}, {'connected_gene': 'OPTC', 'score': 11.25}, {'connected_gene': 'SOX13', 'score': 11.13}, {'connected_gene': 'FMOD', 'score': 10.45}, {'connected_gene': 'HNRNPA1P59', 'score': 10.3}, {'connected_gene': 'PRELP', 'score': 10.09}, {'connected_gene': 'BTG2', 'score': 2.23}, {'connected_gene': 'LAX1', 'score': 1.24}, {'connected_gene': 'GC01P203608', 'score': 0.37}, {'connected_gene': 'GC01M203656', 'score': 0.31}]
chr1	GH01I203647	203647751	203658353	2.22	[{'connected_gene': 'ATP2B4', 'score': 563.16}, {'connected_gene': 'ZC3H11A', 'score': 17.47}, {'connected_gene': 'MDM4', 'score': 13.77}, {'connected_gene': 'SNRPE', 'score': 11.16}, {'connected_gene': 'ZBED6', 'score': 11.13}, {'connected_gene': 'SNORA77', 'score': 10.49}, {'connected_gene': 'OPTC', 'score': 10.47}, {'connected_gene': 'PPP1R15B', 'score': 9.76}, {'connected_gene': 'LOC100131747', 'score': 9.08}, {'connected_gene': 'FMOD', 'score': 9.08}, {'connected_gene': 'LOC730222', 'score': 4.43}, {'connected_gene': 'BTG2', 'score': 2.31}, {'connected_gene': 'LAX1', 'score': 1.47}, {'connected_gene': 'LOC100421749', 'score': 0.77}, {'connected_gene': 'GC01M203656', 'score': 0.77}, {'connected_gene': 'GC01P203608', 'score': 0.26}]
chr1	GH01I203589	203589190	203594481	1.27	[{'connected_gene': 'ATP2B4', 'score': 16.31}, {'connected_gene': 'OPTC', 'score': 11.18}, {'connected_gene': 'PRELP', 'score': 9.84}, {'connected_gene': 'FMOD', 'score': 9.5}, {'connected_gene': 'LOC100131747', 'score': 9.5}, {'connected_gene': 'BTG2', 'score': 5.1}, {'connected_gene': 'ZC3H11A', 'score': 1.38}, {'connected_gene': 'GC01P203608', 'score': 0.37}, {'connected_gene': 'GC01M203457', 'score': 0.19}]
chr1	GH01I203363	203363909	203365853	0.67	[{'connected_gene': 'OPTC', 'score': 10.25}, {'connected_gene': 'PRELP', 'score': 10.2}, {'connected_gene': 'MYOG', 'score': 9.92}, {'connected_gene': 'ADORA1', 'score': 9.92}, {'connected_gene': 'LINC01136', 'score': 9.76}, {'connected_gene': 'BTG2', 'score': 9.76}, {'connected_gene': 'ENSG00000224671', 'score': 9.26}, {'connected_gene': 'LOC102723529', 'score': 0.44}, {'connected_gene': 'LOC100131747', 'score': 0.39}]
chr1	GH01I203313	203312883	203313898	0.31	[{'connected_gene': 'FMOD', 'score': 5.79}, {'connected_gene': 'GC01M203320', 'score': 0.44}, {'connected_gene': 'RNU6-487P', 'score': 0.44}, {'connected_gene': 'BTG2', 'score': 0.44}]
chr1	GH01I203272	203272601	203276155	1.69	[{'connected_gene': 'CHIT1', 'score': 559.17}, {'connected_gene': 'BTG2', 'score': 25.73}, {'connected_gene': 'LINC01136', 'score': 13.08}, {'connected_gene': 'RNU6-487P', 'score': 12.47}, {'connected_gene': 'FMOD', 'score': 10.28}, {'connected_gene': 'LOC100131747', 'score': 10.28}, {'connected_gene': 'OPTC', 'score': 10.25}, {'connected_gene': 'PRELP', 'score': 9.59}, {'connected_gene': 'GC01P203263', 'score': 0.39}, {'connected_gene': 'LINC01353', 'score': 0.39}]
chr1	GH01I203335	203335188	203337210	0.31	[{'connected_gene': 'CHIT1', 'score': 12.93}, {'connected_gene': 'LINC01136', 'score': 12.39}, {'connected_gene': 'BTG2', 'score': 12.39}, {'connected_gene': 'OPTC', 'score': 11.26}, {'connected_gene': 'PRELP', 'score': 10.3}, {'connected_gene': 'FMOD', 'score': 5.06}, {'connected_gene': 'GC01M203320', 'score': 0.37}, {'connected_gene': 'RNU6-487P', 'score': 0.37}]
chr1	GH01I203338	203338400	203340822	1.25	[{'connected_gene': 'CHIT1', 'score': 12.92}, {'connected_gene': 'LINC01136', 'score': 12.39}, {'connected_gene': 'BTG2', 'score': 12.39}, {'connected_gene': 'RNU6-487P', 'score': 11.49}, {'connected_gene': 'OPTC', 'score': 11.26}, {'connected_gene': 'PRELP', 'score': 10.43}, {'connected_gene': 'ATP2B4', 'score': 9.96}, {'connected_gene': 'ADORA1', 'score': 9.8}, {'connected_gene': 'ENSG00000224671', 'score': 9.63}, {'connected_gene': 'FMOD', 'score': 4.93}, {'connected_gene': 'GC01M203320', 'score': 0.34}]
chr1	GH01I203295	203295158	203297876	1.13	[{'connected_gene': 'RNU6-487P', 'score': 12.87}, {'connected_gene': 'CHIT1', 'score': 12.06}, {'connected_gene': 'BTG2', 'score': 4.45}, {'connected_gene': 'LINC01353', 'score': 0.44}, {'connected_gene': 'LINC01136', 'score': 0.44}]
chr1	GH01I203511	203511402	203515014	1.66	[{'connected_gene': 'LOC105371688', 'score': 550.77}, {'connected_gene': 'ZC3H11A', 'score': 15.6}, {'connected_gene': 'HNRNPA1P59', 'score': 12.48}, {'connected_gene': 'ATP2B4', 'score': 12.27}, {'connected_gene': 'PPP1R15B', 'score': 12.13}, {'connected_gene': 'PRELP', 'score': 10.52}, {'connected_gene': 'BTG2', 'score': 1.23}, {'connected_gene': 'GC01M203457', 'score': 0.44}, {'connected_gene': 'OPTC', 'score': 0.37}]
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	GH01I203353	203353961	203354693	0.31	[{'connected_gene': 'LOC100131747', 'score': 550.77}, {'connected_gene': 'GC01M203353', 'score': 550.77}, {'connected_gene': 'OPTC', 'score': 10.28}, {'connected_gene': 'PRELP', 'score': 10.13}, {'connected_gene': 'LINC01136', 'score': 10.03}, {'connected_gene': 'BTG2', 'score': 10.03}, {'connected_gene': 'FMOD', 'score': 7.27}, {'connected_gene': 'LOC102723529', 'score': 0.37}]
chr1	GH01I203606	203606117	203608254	1.59	[{'connected_gene': 'GC01P203608', 'score': 550.77}, {'connected_gene': 'SNRPE', 'score': 32.11}, {'connected_gene': 'MDM4', 'score': 27.45}, {'connected_gene': 'ZBED6', 'score': 23.91}, {'connected_gene': 'HNRNPA1P59', 'score': 12.29}, {'connected_gene': 'SOX13', 'score': 11.13}, {'connected_gene': 'FMOD', 'score': 10.46}, {'connected_gene': 'PRELP', 'score': 10.11}, {'connected_gene': 'PPP1R15B', 'score': 9.84}, {'connected_gene': 'ATP2B4', 'score': 5.13}, {'connected_gene': 'BTG2', 'score': 2.01}, {'connected_gene': 'LAX1', 'score': 1.6}, {'connected_gene': 'GC01M203457', 'score': 0.17}]
chr1	GH01I203519	203519052	203522712	1.59	[{'connected_gene': 'GC01M203457', 'score': 550.77}, {'connected_gene': 'OPTC', 'score': 11.63}, {'connected_gene': 'PRELP', 'score': 10.66}, {'connected_gene': 'ATP2B4', 'score': 10.52}, {'connected_gene': 'FMOD', 'score': 9.27}, {'connected_gene': 'LOC100131747', 'score': 9.27}, {'connected_gene': 'BTG2', 'score': 3.07}, {'connected_gene': 'SNRPE', 'score': 1.27}, {'connected_gene': 'PPFIA4', 'score': 1.25}, {'connected_gene': 'GC01P203608', 'score': 0.17}]
chr1	GH01I203311	203311133	203311402	0.63	[{'connected_gene': 'GC01M203320', 'score': 0.44}, {'connected_gene': 'RNU6-487P', 'score': 0.44}, {'connected_gene': 'BTG2', 'score': 0.44}]
chr1	GH01I203263	203263333	203265235	1.1	[{'connected_gene': 'GC01P203263', 'score': 550.77}, {'connected_gene': 'RNU6-487P', 'score': 11.5}, {'connected_gene': 'LINC01136', 'score': 11.3}, {'connected_gene': 'BTG2', 'score': 11.3}, {'connected_gene': 'FMOD', 'score': 10.82}, {'connected_gene': 'LOC100131747', 'score': 10.82}, {'connected_gene': 'ADORA1', 'score': 10.68}, {'connected_gene': 'ENSG00000224671', 'score': 10.6}, {'connected_gene': 'OPTC', 'score': 10.44}, {'connected_gene': 'CHI3L1', 'score': 10.28}, {'connected_gene': 'PRELP', 'score': 10.04}, {'connected_gene': 'CHIT1', 'score': 8.0}]