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
ENST00000285208	[[133543082, 133547696], [133553418, 133553485], [133557009, 133557103], [133558349, 133558461], [133560128, 133560234], [133560453, 133560507], [133583427, 133583486], [133614240, 133614660]]	[[133547631, 133547696], [133553418, 133553485], [133557009, 133557103], [133558349, 133558461], [133560128, 133560234], [133560453, 133560507], [133583427, 133583486], [133614240, 133614310]]
ENST00000543906	[[133543086, 133546189], [133546271, 133547696], [133553418, 133553485], [133557009, 133557103], [133558349, 133558461], [133560128, 133560234], [133560453, 133560507], [133583427, 133583486], [133614240, 133614439]]	[[133547631, 133547696], [133553418, 133553485], [133557009, 133557103], [133558349, 133558461], [133560128, 133560234], [133560453, 133560507], [133583427, 133583486], [133614240, 133614310]]
ENST00000469959	[[133546591, 133546829], [133583461, 133583486], [133614240, 133614477]]	[[133546708, 133546829], [133583461, 133583486], [133614240, 133614310]]
ENST00000486858	[[133547496, 133547696], [133553418, 133553485], [133557009, 133557103], [133558349, 133558461], [133560128, 133560234], [133560453, 133560507], [133583427, 133583486], [133604378, 133604509], [133614240, 133614297]]	[[133547631, 133547696], [133553418, 133553485], [133557009, 133557103], [133558349, 133558461], [133560128, 133560234], [133560453, 133560507], [133583427, 133583486], [133604378, 133604409]]
ENST00000477759	[[133557033, 133557103], [133558349, 133558461], [133560128, 133560234], [133560453, 133560507], [133583427, 133583486], [133604414, 133604509], [133614240, 133614330]]	[[133557033, 133557103], [133558349, 133558461], [133560128, 133560234], [133560453, 133560507], [133583427, 133583457]]
ENST00000460865	[[133557092, 133557103], [133558349, 133558461], [133560128, 133560234], [133560453, 133560507], [133614240, 133614680]]	[[133557092, 133557103], [133558349, 133558461], [133560128, 133560234], [133560453, 133560474]]
ENST00000488969	[[133560169, 133560234], [133560453, 133560507], [133583427, 133583486], [133613235, 133613563]]	[[133560169, 133560234], [133560453, 133560507], [133583427, 133583457]]
NM_016577	[[133543078, 133547696], [133553418, 133553485], [133557009, 133557103], [133558349, 133558461], [133560128, 133560234], [133560453, 133560507], [133583427, 133583486], [133614240, 133614691]]	[[133547631, 133547696], [133553418, 133553485], [133557009, 133557103], [133558349, 133558461], [133560128, 133560234], [133560453, 133560507], [133583427, 133583486], [133614240, 133614310]]

Promoter

Chrom	Start	End	Description
chr3	133547310	133547334	CAGE_peak_14_at_RAB6B_5end
chr3	133547396	133547424	CAGE_peak_12_at_RAB6B_5end
chr3	133547428	133547486	CAGE_peak_7_at_RAB6B_5end
chr3	133614314	133614358	CAGE_peak_3_at_RAB6B_5end
chr3	133614369	133614380	CAGE_peak_9_at_RAB6B_5end
chr3	133614421	133614432	CAGE_peak_10_at_RAB6B_5end
chr3	133614454	133614459	CAGE_peak_11_at_RAB6B_5end
chr3	133614461	133614462	CAGE_peak_16_at_RAB6B_5end
chr3	133614467	133614492	CAGE_peak_5_at_RAB6B_5end
chr3	133614495	133614520	CAGE_peak_6_at_RAB6B_5end
chr3	133614551	133614594	CAGE_peak_2_at_RAB6B_5end
chr3	133614597	133614681	CAGE_peak_1_at_RAB6B_5end
chr3	133614692	133614705	CAGE_peak_8_at_RAB6B_5end
chr3	133614711	133614733	CAGE_peak_4_at_RAB6B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I133926	133926606	133928200	0.95	[{'connected_gene': 'C3orf36', 'score': 0.77}, {'connected_gene': 'RAB6B', 'score': 0.29}]
chr3	GH03I133879	133879720	133883712	0.54	[{'connected_gene': 'C3orf36', 'score': 11.25}, {'connected_gene': 'RAB6B', 'score': 4.96}, {'connected_gene': 'GC03M133818', 'score': 0.26}]
chr3	GH03I133912	133912346	133912530	0.22	[{'connected_gene': 'SRPRB', 'score': 22.84}, {'connected_gene': 'C3orf36', 'score': 0.37}, {'connected_gene': 'RAB6B', 'score': 0.37}]
chr3	GH03I133568	133567881	133576833	2.48	[{'connected_gene': 'CDV3', 'score': 556.32}, {'connected_gene': 'SRPRB', 'score': 9.46}, {'connected_gene': 'TFP1', 'score': 6.32}, {'connected_gene': 'RAB6B', 'score': 5.0}, {'connected_gene': 'NPHP3', 'score': 4.62}, {'connected_gene': 'UBA5', 'score': 4.14}, {'connected_gene': 'GC03P133569', 'score': 0.77}]
chr3	GH03I133895	133895000	133896314	1.86	[{'connected_gene': 'RAB6B', 'score': 565.32}, {'connected_gene': 'TFP1', 'score': 10.29}, {'connected_gene': 'GC03M133818', 'score': 0.22}]
chr3	GH03I133888	133888257	133888406	0.31	[{'connected_gene': 'RAB6B', 'score': 0.44}, {'connected_gene': 'GC03M133818', 'score': 0.23}]
chr3	GH03I134347	134347217	134376466	2.71	[{'connected_gene': 'AMOTL2', 'score': 553.54}, {'connected_gene': 'ENSG00000260633', 'score': 60.85}, {'connected_gene': 'RYK', 'score': 24.55}, {'connected_gene': 'TOPBP1', 'score': 10.59}, {'connected_gene': 'TFP1', 'score': 10.24}, {'connected_gene': 'RAB6B', 'score': 5.04}, {'connected_gene': 'RPL39P5', 'score': 0.44}, {'connected_gene': 'MIR6827', 'score': 0.44}]