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
ENST00000337227	[[18467183, 18470634], [18471038, 18471124], [18474601, 18474707], [18476481, 18476524], [18477712, 18477887]]	[[18470407, 18470634], [18471038, 18471124], [18474601, 18474707], [18476481, 18476524], [18477712, 18477811]]
ENST00000493184	[[18469931, 18470634], [18474601, 18474707], [18477712, 18477824]]	None
ENST00000491835	[[18470102, 18470634], [18471038, 18471124], [18474601, 18474707], [18477712, 18477818]]	None
NM_006606	[[18467183, 18470634], [18471038, 18471124], [18474601, 18474707], [18476481, 18476524], [18477712, 18477887]]	[[18470407, 18470634], [18471038, 18471124], [18474601, 18474707], [18476481, 18476524], [18477712, 18477811]]

Promoter

Chrom	Start	End	Description
chr20	18477809	18477857	CAGE_peak_1_at_RBBP9_5end
chr20	18477862	18477890	CAGE_peak_2_at_RBBP9_5end
chr20	18477893	18477904	CAGE_peak_3_at_RBBP9_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I018030	18030932	18034474	0.75	[{'connected_gene': 'MGME1', 'score': 13.29}, {'connected_gene': 'ZNF133', 'score': 11.28}, {'connected_gene': 'ENSG00000229262', 'score': 11.28}, {'connected_gene': 'OVOL2', 'score': 11.28}, {'connected_gene': 'RBBP9', 'score': 9.92}, {'connected_gene': 'GC20P018011', 'score': 0.34}]
chr20	GH20I018566	18566519	18568600	1.57	[{'connected_gene': 'SMIM26', 'score': 563.74}, {'connected_gene': 'DTD1', 'score': 562.31}, {'connected_gene': 'SEC23B', 'score': 21.56}, {'connected_gene': 'RBBP9', 'score': 13.2}, {'connected_gene': 'POLR3F', 'score': 10.73}, {'connected_gene': 'DZANK1', 'score': 10.73}, {'connected_gene': 'RN7SL638P', 'score': 0.34}]
chr20	GH20I017656	17656938	17657500	0.87	[{'connected_gene': 'BANF2', 'score': 14.23}, {'connected_gene': 'RRBP1', 'score': 12.45}, {'connected_gene': 'ZNF133', 'score': 11.24}, {'connected_gene': 'RBBP9', 'score': 9.9}, {'connected_gene': 'PIR52551', 'score': 0.77}, {'connected_gene': 'PIR38595', 'score': 0.39}]
chr20	GH20I018496	18496277	18497846	2.02	[{'connected_gene': 'RBBP9', 'score': 550.77}, {'connected_gene': 'SEC23B', 'score': 22.96}, {'connected_gene': 'SMIM26', 'score': 12.91}, {'connected_gene': 'RPL21P3', 'score': 0.39}]
chr20	GH20I018527	18527566	18528184	0.2	[{'connected_gene': 'POLR3F', 'score': 11.7}, {'connected_gene': 'DZANK1', 'score': 11.7}, {'connected_gene': 'RBBP9', 'score': 11.43}, {'connected_gene': 'SEC23B', 'score': 0.34}, {'connected_gene': 'GC20P018562', 'score': 0.29}]
chr20	GH20I018428	18428897	18429046	0.84	[{'connected_gene': 'POLR3F', 'score': 11.78}, {'connected_gene': 'DZANK1', 'score': 11.78}, {'connected_gene': 'RBBP9', 'score': 11.68}, {'connected_gene': 'RNA5SP476', 'score': 0.77}, {'connected_gene': 'GCNT1P1', 'score': 0.44}]
chr20	GH20I018523	18523194	18525967	0.38	[{'connected_gene': 'SEC23B', 'score': 13.95}, {'connected_gene': 'SMIM26', 'score': 13.22}, {'connected_gene': 'DTD1', 'score': 12.15}, {'connected_gene': 'RBBP9', 'score': 11.25}, {'connected_gene': 'GC20P018562', 'score': 0.28}]
chr20	GH20I018543	18543760	18544697	0.64	[{'connected_gene': 'SEC23B', 'score': 25.28}, {'connected_gene': 'RBBP9', 'score': 11.38}, {'connected_gene': 'POLR3F', 'score': 10.71}, {'connected_gene': 'DZANK1', 'score': 10.71}, {'connected_gene': 'DTD1', 'score': 7.97}, {'connected_gene': 'GC20P018562', 'score': 0.37}]