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
ENST00000432196	[[65369153, 65372276]]	[[65369153, 65370530]]
NM_001101362	[[65369153, 65372276]]	[[65369153, 65370530]]

Promoter

Chrom	Start	End	Description
chr15	65369082	65369105	CAGE_peak_1_at_KBTBD13_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr15	GH15I064988	64988259	64992556	2.06	[{'connected_gene': 'SPG21', 'score': 598.6}, {'connected_gene': 'CSNK1G1', 'score': 22.07}, {'connected_gene': 'ZNF609', 'score': 21.28}, {'connected_gene': 'INTS14', 'score': 14.25}, {'connected_gene': 'PARP16', 'score': 13.58}, {'connected_gene': 'SLC24A1', 'score': 12.3}, {'connected_gene': 'ENSG00000259635', 'score': 11.9}, {'connected_gene': 'MTFMT', 'score': 11.8}, {'connected_gene': 'PDCD7', 'score': 11.46}, {'connected_gene': 'RBPMS2', 'score': 10.45}, {'connected_gene': 'ENSG00000249240', 'score': 10.44}, {'connected_gene': 'PLEKHO2', 'score': 10.44}, {'connected_gene': 'MIR1272', 'score': 9.69}, {'connected_gene': 'KBTBD13', 'score': 5.14}, {'connected_gene': 'GC15P069488', 'score': 0.34}]
chr15	GH15I065082	65082001	65082832	1.02	[{'connected_gene': 'SPG21', 'score': 14.92}, {'connected_gene': 'UBAP1L', 'score': 7.2}, {'connected_gene': 'LOC105370862', 'score': 0.44}, {'connected_gene': 'KBTBD13', 'score': 0.44}]
chr15	GH15I065078	65078708	65080311	0.46	[{'connected_gene': 'SPG21', 'score': 20.89}, {'connected_gene': 'UBAP1L', 'score': 11.69}, {'connected_gene': 'MIR1272', 'score': 9.57}, {'connected_gene': 'KBTBD13', 'score': 0.77}, {'connected_gene': 'LOC105370862', 'score': 0.39}]
chr15	GH15I065035	65035821	65038019	0.2	[{'connected_gene': 'RASL12', 'score': 11.55}, {'connected_gene': 'KBTBD13', 'score': 11.55}, {'connected_gene': 'UBAP1L', 'score': 11.33}, {'connected_gene': 'RBPMS2', 'score': 9.53}, {'connected_gene': 'SLC51B', 'score': 0.44}, {'connected_gene': 'MTFMT', 'score': 0.44}]
chr15	GH15I065077	65077919	65078282	0.77	[{'connected_gene': 'RASL12', 'score': 550.77}, {'connected_gene': 'KBTBD13', 'score': 550.77}, {'connected_gene': 'UBAP1L', 'score': 12.11}, {'connected_gene': 'LOC105370862', 'score': 0.39}]
chr15	GH15I065101	65101326	65102848	1.04	[{'connected_gene': 'RASL12', 'score': 11.52}, {'connected_gene': 'KBTBD13', 'score': 11.52}, {'connected_gene': 'RNU5B-1', 'score': 10.19}, {'connected_gene': 'ENSG00000249240', 'score': 9.13}, {'connected_gene': 'PLEKHO2', 'score': 9.13}, {'connected_gene': 'ENSG00000259258', 'score': 0.77}, {'connected_gene': 'UBAP1L', 'score': 0.39}, {'connected_gene': 'LOC105370862', 'score': 0.39}, {'connected_gene': 'GC15M065089', 'score': 0.34}]
chr15	GH15I065100	65100364	65100731	0.2	[{'connected_gene': 'RASL12', 'score': 11.55}, {'connected_gene': 'KBTBD13', 'score': 11.55}, {'connected_gene': 'RNU5B-1', 'score': 10.19}, {'connected_gene': 'ENSG00000259258', 'score': 0.77}, {'connected_gene': 'UBAP1L', 'score': 0.39}, {'connected_gene': 'LOC105370862', 'score': 0.39}, {'connected_gene': 'GC15M065089', 'score': 0.31}]
chr15	GH15I065032	65032737	65034070	1.15	[{'connected_gene': 'RASL12', 'score': 11.0}, {'connected_gene': 'KBTBD13', 'score': 11.0}, {'connected_gene': 'RNU5B-1', 'score': 10.32}, {'connected_gene': 'MTFMT', 'score': 0.77}, {'connected_gene': 'SLC51B', 'score': 0.39}]
chr15	GH15I065076	65076697	65076756	0.7	[{'connected_gene': 'RASL12', 'score': 550.77}, {'connected_gene': 'KBTBD13', 'score': 550.77}]
chr15	GH15I065053	65053992	65056364	1.29	[{'connected_gene': 'UBAP1L', 'score': 18.32}, {'connected_gene': 'SPG21', 'score': 18.19}, {'connected_gene': 'MTFMT', 'score': 12.38}, {'connected_gene': 'RASL12', 'score': 12.06}, {'connected_gene': 'KBTBD13', 'score': 12.06}, {'connected_gene': 'RNU5B-1', 'score': 10.52}, {'connected_gene': 'RBPMS2', 'score': 10.1}, {'connected_gene': 'MIR1272', 'score': 9.59}, {'connected_gene': 'PIR51727', 'score': 0.44}, {'connected_gene': 'ENSG00000277351', 'score': 0.44}]
chr15	GH15I065052	65052402	65052424	0.36	[{'connected_gene': 'MTFMT', 'score': 12.41}, {'connected_gene': 'RASL12', 'score': 12.06}, {'connected_gene': 'KBTBD13', 'score': 12.06}, {'connected_gene': 'UBAP1L', 'score': 11.36}, {'connected_gene': 'MIR1272', 'score': 9.6}, {'connected_gene': 'ENSG00000277351', 'score': 0.77}, {'connected_gene': 'SLC51B', 'score': 0.44}, {'connected_gene': 'PIR51727', 'score': 0.39}]
chr15	GH15I065085	65085331	65090838	1.62	[{'connected_gene': 'LOC105370862', 'score': 550.77}, {'connected_gene': 'UBAP1L', 'score': 8.8}, {'connected_gene': 'RASL12', 'score': 4.07}, {'connected_gene': 'KBTBD13', 'score': 0.39}, {'connected_gene': 'GC15M065089', 'score': 0.28}]
chr15	GH15I065083	65083115	65084195	0.83	[{'connected_gene': 'LOC105370862', 'score': 0.44}, {'connected_gene': 'KBTBD13', 'score': 0.44}]
chr15	GH15I065084	65084663	65084772	0.82	[{'connected_gene': 'LOC105370862', 'score': 0.44}, {'connected_gene': 'KBTBD13', 'score': 0.44}]
chr15	GH15I065048	65048943	65050829	1.35	[{'connected_gene': 'ENSG00000277351', 'score': 550.77}, {'connected_gene': 'SPG21', 'score': 17.79}, {'connected_gene': 'UBAP1L', 'score': 17.41}, {'connected_gene': 'CSNK1G1', 'score': 12.51}, {'connected_gene': 'MTFMT', 'score': 12.41}, {'connected_gene': 'RASL12', 'score': 12.04}, {'connected_gene': 'KBTBD13', 'score': 12.04}, {'connected_gene': 'ENSG00000259635', 'score': 11.89}, {'connected_gene': 'ZNF609', 'score': 10.13}, {'connected_gene': 'MIR1272', 'score': 9.6}, {'connected_gene': 'ANKDD1A', 'score': 4.08}, {'connected_gene': 'SLC51B', 'score': 0.77}, {'connected_gene': 'PIR51727', 'score': 0.39}]