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
ENST00000469990	[[554854, 555111], [555304, 555930], [555995, 556115], [556191, 556420]]	None
ENST00000329451	[[554863, 555111], [555304, 555503], [555733, 555930], [555995, 556115], [556191, 556375], [556491, 556588], [556834, 557097], [557398, 557487], [557571, 557640], [557883, 558039], [558160, 558248], [558613, 558766], [558855, 558979], [560682, 560779]]	[[554979, 555111], [555304, 555503], [555733, 555930], [555995, 556115], [556191, 556375], [556491, 556588], [556834, 557097], [557398, 557487], [557571, 557640], [557883, 558039], [558160, 558248], [558613, 558766], [558855, 558979], [560682, 560716]]
ENST00000441853	[[556925, 557097], [557398, 557487], [557571, 557640], [557883, 558039], [558160, 558248], [558613, 558766], [558855, 558979], [559346, 559498], [560682, 560730]]	[[556925, 557097], [557398, 557487], [557571, 557640], [557883, 558039], [558160, 558248], [558613, 558766], [558855, 558979], [559346, 559401]]
ENST00000486629	[[557398, 557487], [557571, 557640], [557883, 558039], [558160, 558248], [558613, 558766], [558855, 559062], [559346, 559382]]	[[557398, 557487], [557571, 557640], [557883, 558039], [558160, 558248], [558613, 558766], [558855, 559043]]
ENST00000492515	[[558475, 558784], [558855, 558979], [559968, 560143]]	None
NM_173573	[[554849, 555111], [555304, 555503], [555733, 555930], [555995, 556115], [556191, 556375], [556491, 556588], [556834, 557097], [557398, 557487], [557571, 557640], [557883, 558039], [558160, 558248], [558613, 558766], [558855, 558979], [560682, 560779]]	[[554979, 555111], [555304, 555503], [555733, 555930], [555995, 556115], [556191, 556375], [556491, 556588], [556834, 557097], [557398, 557487], [557571, 557640], [557883, 558039], [558160, 558248], [558613, 558766], [558855, 558979], [560682, 560716]]

Promoter

Chrom	Start	End	Description
chr11	559377	559393	CAGE_peak_2_at_C11orf35_5end
chr11	560703	560743	CAGE_peak_1_at_C11orf35_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I000554	554961	555201	1.48	[{'connected_gene': 'LOC692247', 'score': 6.58}, {'connected_gene': 'LMNTD2', 'score': 0.44}, {'connected_gene': 'HRAS', 'score': 0.37}]
chr11	GH11I000555	555245	555604	0.63	[{'connected_gene': 'LOC692247', 'score': 0.77}, {'connected_gene': 'LMNTD2', 'score': 0.44}, {'connected_gene': 'HRAS', 'score': 0.37}]
chr11	GH11I000559	559142	566688	2.21	[{'connected_gene': 'LMNTD2', 'score': 557.47}, {'connected_gene': 'RASSF7', 'score': 550.77}, {'connected_gene': 'GC11M000563', 'score': 550.77}, {'connected_gene': 'PHRF1', 'score': 15.36}, {'connected_gene': 'HRAS', 'score': 12.51}, {'connected_gene': 'TMEM80', 'score': 11.56}, {'connected_gene': 'PKP3', 'score': 5.27}, {'connected_gene': 'RNH1', 'score': 4.92}, {'connected_gene': 'PTDSS2', 'score': 4.43}, {'connected_gene': 'GC11M000576', 'score': 0.44}, {'connected_gene': 'GC11M000578', 'score': 0.44}, {'connected_gene': 'LOC692247', 'score': 0.44}, {'connected_gene': 'MIR210HG', 'score': 0.44}]
chr11	GH11I000636	636354	641884	1.36	[{'connected_gene': 'DRD4', 'score': 550.77}, {'connected_gene': 'GC11P000641', 'score': 550.77}, {'connected_gene': 'GC11P000637', 'score': 550.77}, {'connected_gene': 'GC11P000643', 'score': 550.77}, {'connected_gene': 'TMEM80', 'score': 31.09}, {'connected_gene': 'PTDSS2', 'score': 8.68}, {'connected_gene': 'CDHR5', 'score': 7.31}, {'connected_gene': 'HRAS', 'score': 6.36}, {'connected_gene': 'LMNTD2', 'score': 5.48}, {'connected_gene': 'OR4F2P', 'score': 4.94}, {'connected_gene': 'LOC692247', 'score': 4.91}]
chr11	GH11I001050	1050670	1051038	0.72	[{'connected_gene': 'AP2A2', 'score': 11.41}, {'connected_gene': 'PIDD1', 'score': 10.16}, {'connected_gene': 'RPLP2', 'score': 10.16}, {'connected_gene': 'SLC25A22', 'score': 10.16}, {'connected_gene': 'CEND1', 'score': 10.16}, {'connected_gene': 'LOC101927503', 'score': 6.36}, {'connected_gene': 'LMNTD2', 'score': 4.32}, {'connected_gene': 'GC11P001047', 'score': 0.77}, {'connected_gene': 'PIR44225', 'score': 0.44}]
chr11	GH11I000534	534161	538417	2.22	[{'connected_gene': 'LRRC56', 'score': 568.29}, {'connected_gene': 'HRAS', 'score': 567.77}, {'connected_gene': 'TMEM80', 'score': 22.35}, {'connected_gene': 'RNH1', 'score': 16.6}, {'connected_gene': 'PIDD1', 'score': 12.84}, {'connected_gene': 'DRD4', 'score': 12.76}, {'connected_gene': 'PHRF1', 'score': 12.05}, {'connected_gene': 'GATD1', 'score': 10.81}, {'connected_gene': 'ENSG00000255142', 'score': 10.77}, {'connected_gene': 'ENSG00000255158', 'score': 10.3}, {'connected_gene': 'ENSG00000255237', 'score': 10.1}, {'connected_gene': 'LMNTD2', 'score': 7.0}, {'connected_gene': 'LOC101059906', 'score': 0.44}]
chr11	GH11I000514	514302	516144	0.58	[{'connected_gene': 'LOC105376507', 'score': 550.77}, {'connected_gene': 'RNH1', 'score': 18.43}, {'connected_gene': 'HRAS', 'score': 12.9}, {'connected_gene': 'LOC692247', 'score': 12.82}, {'connected_gene': 'RASSF7', 'score': 12.82}, {'connected_gene': 'LMNTD2', 'score': 12.81}, {'connected_gene': 'PTDSS2', 'score': 12.12}, {'connected_gene': 'SLC25A22', 'score': 11.01}, {'connected_gene': 'CEND1', 'score': 11.01}, {'connected_gene': 'PIDD1', 'score': 11.01}, {'connected_gene': 'RPLP2', 'score': 11.01}, {'connected_gene': 'ENSG00000255158', 'score': 10.57}, {'connected_gene': 'DRD4', 'score': 8.86}, {'connected_gene': 'LRRC56', 'score': 0.77}, {'connected_gene': 'GC11P000507', 'score': 0.44}]
chr11	GH11I001057	1057490	1058359	0.2	[{'connected_gene': 'PIR44225', 'score': 550.77}, {'connected_gene': 'LOC101927503', 'score': 5.91}, {'connected_gene': 'ENSG00000255142', 'score': 5.24}, {'connected_gene': 'AP2A2', 'score': 4.9}, {'connected_gene': 'LMNTD2', 'score': 4.25}, {'connected_gene': 'GC11P001047', 'score': 0.39}]