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
ENST00000301785	[[62480101, 62482851], [62482971, 62483079], [62483335, 62483409], [62484460, 62484661], [62487494, 62487663], [62488766, 62488895], [62489291, 62489414], [62489588, 62489852], [62490072, 62490185], [62490284, 62490375], [62491058, 62491198], [62491385, 62491462], [62491762, 62491898], [62494090, 62494821]]	[[62482770, 62482851], [62482971, 62483079], [62483335, 62483409], [62484460, 62484661], [62487494, 62487663], [62488766, 62488895], [62489291, 62489414], [62489588, 62489852], [62490072, 62490185], [62490284, 62490375], [62491058, 62491198], [62491385, 62491462], [62491762, 62491898], [62494090, 62494628]]
ENST00000540127	[[62490335, 62490375], [62491058, 62491457]]	None
NM_001079559	[[62480096, 62482851], [62482971, 62483079], [62483335, 62483409], [62484460, 62484661], [62487494, 62487663], [62488766, 62488895], [62489291, 62489414], [62489588, 62489852], [62490072, 62490185], [62490284, 62490375], [62491058, 62491198], [62491385, 62491462], [62491762, 62491898], [62494090, 62494857]]	[[62482770, 62482851], [62482971, 62483079], [62483335, 62483409], [62484460, 62484661], [62487494, 62487663], [62488766, 62488895], [62489291, 62489414], [62489588, 62489852], [62490072, 62490185], [62490284, 62490375], [62491058, 62491198], [62491385, 62491462], [62491762, 62491898], [62494090, 62494628]]

Promoter

Chrom	Start	End	Description
chr11	62494605	62494616	CAGE_peak_3_at_HNRNPUL2_5end
chr11	62494623	62494700	CAGE_peak_2_at_HNRNPUL2_5end
chr11	62494735	62494746	CAGE_peak_5_at_HNRNPUL2_5end
chr11	62494893	62494953	CAGE_peak_1_at_HNRNPUL2_5end
chr11	62494954	62494961	CAGE_peak_8_at_HNRNPUL2_5end
chr11	62495049	62495058	CAGE_peak_9_at_HNRNPUL2_5end
chr11	62495060	62495071	CAGE_peak_6_at_HNRNPUL2_5end
chr11	62495100	62495109	CAGE_peak_7_at_HNRNPUL2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I062724	62724084	62730255	2.31	[{'connected_gene': 'TTC9C', 'score': 567.32}, {'connected_gene': 'HNRNPUL2', 'score': 550.77}, {'connected_gene': 'HNRNPUL2-BSCL2', 'score': 550.77}, {'connected_gene': 'NXF1', 'score': 21.9}, {'connected_gene': 'GANAB', 'score': 20.23}, {'connected_gene': 'INTS5', 'score': 16.12}, {'connected_gene': 'CSKMT', 'score': 13.23}, {'connected_gene': 'LOC105369332', 'score': 12.7}, {'connected_gene': 'MTA2', 'score': 12.58}, {'connected_gene': 'EML3', 'score': 12.25}, {'connected_gene': 'STX5', 'score': 11.89}, {'connected_gene': 'UBXN1', 'score': 10.04}, {'connected_gene': 'TMEM179B', 'score': 10.02}, {'connected_gene': 'TUT1', 'score': 9.81}, {'connected_gene': 'PIR38618', 'score': 0.39}]
chr11	GH11I062719	62719034	62720749	0.38	[{'connected_gene': 'TTC9C', 'score': 16.99}, {'connected_gene': 'PIR38618', 'score': 0.44}, {'connected_gene': 'HNRNPUL2-BSCL2', 'score': 0.44}, {'connected_gene': 'HNRNPUL2', 'score': 0.44}]
chr11	GH11I062852	62852889	62858785	2.59	[{'connected_gene': 'SNHG1', 'score': 631.66}, {'connected_gene': 'SLC3A2', 'score': 552.85}, {'connected_gene': 'SNORD29', 'score': 550.77}, {'connected_gene': 'SNORD26', 'score': 550.77}, {'connected_gene': 'GC11M062919', 'score': 550.77}, {'connected_gene': 'SNORD27', 'score': 550.77}, {'connected_gene': 'GC11M062923', 'score': 550.77}, {'connected_gene': 'GC11M062930', 'score': 550.77}, {'connected_gene': 'SNORD25', 'score': 550.77}, {'connected_gene': 'ENSG00000278527', 'score': 550.77}, {'connected_gene': 'SNORD28', 'score': 550.77}, {'connected_gene': 'GC11M062920', 'score': 550.77}, {'connected_gene': 'GC11M062925', 'score': 550.77}, {'connected_gene': 'GC11M062911', 'score': 550.77}, {'connected_gene': 'NXF1', 'score': 91.06}, {'connected_gene': 'CSKMT', 'score': 84.71}, {'connected_gene': 'GANAB', 'score': 76.82}, {'connected_gene': 'INTS5', 'score': 74.55}, {'connected_gene': 'MTA2', 'score': 72.12}, {'connected_gene': 'EML3', 'score': 69.16}, {'connected_gene': 'STX5', 'score': 64.99}, {'connected_gene': 'UBXN1', 'score': 61.32}, {'connected_gene': 'LOC105369332', 'score': 55.58}, {'connected_gene': 'TMEM179B', 'score': 44.8}, {'connected_gene': 'TUT1', 'score': 38.07}, {'connected_gene': 'WDR74', 'score': 32.31}, {'connected_gene': 'TAF6L', 'score': 27.75}, {'connected_gene': 'EEF1G', 'score': 19.41}, {'connected_gene': 'ATL3', 'score': 11.26}, {'connected_gene': 'TTC9C', 'score': 10.42}, {'connected_gene': 'IMMP1LP1', 'score': 10.35}, {'connected_gene': 'SPINDOC', 'score': 9.85}, {'connected_gene': 'LRRN4CL', 'score': 9.85}, {'connected_gene': 'TMEM223', 'score': 4.63}, {'connected_gene': 'HNRNPUL2', 'score': 1.57}, {'connected_gene': 'SNORD22', 'score': 0.77}, {'connected_gene': 'GC11M062924', 'score': 0.77}, {'connected_gene': 'SNORD31', 'score': 0.77}, {'connected_gene': 'GC11M062921', 'score': 0.77}, {'connected_gene': 'SNORD30', 'score': 0.77}, {'connected_gene': 'GC11M062922', 'score': 0.77}]
chr11	GH11I062712	62712169	62715682	0.94	[{'connected_gene': 'PIR38618', 'score': 550.77}, {'connected_gene': 'TTC9C', 'score': 17.28}, {'connected_gene': 'UBXN1', 'score': 12.18}, {'connected_gene': 'LBHD1', 'score': 12.15}, {'connected_gene': 'LRRN4CL', 'score': 11.71}, {'connected_gene': 'POLR2G', 'score': 11.54}, {'connected_gene': 'GANAB', 'score': 11.19}, {'connected_gene': 'B3GAT3', 'score': 11.14}, {'connected_gene': 'UQCC3', 'score': 11.14}, {'connected_gene': 'EML3', 'score': 11.13}, {'connected_gene': 'ROM1', 'score': 11.13}, {'connected_gene': 'ENSG00000255432', 'score': 11.02}, {'connected_gene': 'TAF6L', 'score': 10.97}, {'connected_gene': 'CSKMT', 'score': 10.82}, {'connected_gene': 'SNORA57', 'score': 10.82}, {'connected_gene': 'INTS5', 'score': 10.74}, {'connected_gene': 'WDR74', 'score': 10.68}, {'connected_gene': 'ENSG00000255508', 'score': 10.63}, {'connected_gene': 'TUT1', 'score': 10.63}, {'connected_gene': 'EEF1G', 'score': 10.63}, {'connected_gene': 'ENSG00000254964', 'score': 10.54}, {'connected_gene': 'MTA2', 'score': 10.54}, {'connected_gene': 'SLC3A2', 'score': 10.34}, {'connected_gene': 'SNORD28', 'score': 10.34}, {'connected_gene': 'SNHG1', 'score': 10.34}, {'connected_gene': 'STX5', 'score': 10.33}, {'connected_gene': 'LOC105369332', 'score': 10.33}, {'connected_gene': 'SNORD22', 'score': 10.19}, {'connected_gene': 'BSCL2', 'score': 0.77}, {'connected_gene': 'HNRNPUL2', 'score': 0.39}, {'connected_gene': 'HNRNPUL2-BSCL2', 'score': 0.39}]
chr11	GH11I062750	62750904	62751315	0.38	[{'connected_gene': 'PIR37929', 'score': 550.77}, {'connected_gene': 'PIR44039', 'score': 550.77}, {'connected_gene': 'GC11M062817', 'score': 550.77}, {'connected_gene': 'TTC9C', 'score': 11.96}, {'connected_gene': 'HNRNPUL2', 'score': 11.96}, {'connected_gene': 'HNRNPUL2-BSCL2', 'score': 11.96}, {'connected_gene': 'TAF6L', 'score': 11.68}, {'connected_gene': 'SNORD22', 'score': 10.26}, {'connected_gene': 'SLC3A2', 'score': 10.26}, {'connected_gene': 'SNHG1', 'score': 10.26}, {'connected_gene': 'AHNAK', 'score': 10.1}, {'connected_gene': 'GANAB', 'score': 4.78}, {'connected_gene': 'ZBTB3', 'score': 0.77}, {'connected_gene': 'GC11P062739', 'score': 0.39}]
chr11	GH11I062722	62722129	62722278	0.59	[{'connected_gene': 'PIR38618', 'score': 0.44}, {'connected_gene': 'HNRNPUL2-BSCL2', 'score': 0.44}, {'connected_gene': 'HNRNPUL2', 'score': 0.44}]