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
ENST00000545182	[[113796370, 113796695], [113806920, 113807014], [113810453, 113810612], [113812278, 113812379], [113812597, 113812812], [113818549, 113818647], [113821909, 113822070], [113823016, 113823088], [113824741, 113824894], [113825548, 113825711], [113826263, 113827043]]	[[113796405, 113796695], [113806920, 113807014], [113810453, 113810612], [113812278, 113812379], [113812597, 113812812], [113818549, 113818647], [113821909, 113822070], [113823016, 113823088], [113824741, 113824894], [113825548, 113825711], [113826263, 113826431]]
ENST00000280800	[[113796374, 113796695], [113806920, 113807014], [113810453, 113810612], [113812278, 113812379], [113812597, 113812812], [113818549, 113818647], [113821909, 113822070], [113822655, 113822751], [113823016, 113823088], [113824741, 113824894], [113825548, 113825711], [113826263, 113827203]]	[[113796405, 113796695], [113806920, 113807014], [113810453, 113810612], [113812278, 113812379], [113812597, 113812812], [113818549, 113818647], [113821909, 113822070], [113822655, 113822751], [113823016, 113823088], [113824741, 113824894], [113825548, 113825711], [113826263, 113826431]]
ENST00000548997	[[113796558, 113796695], [113810453, 113810612], [113812278, 113812379], [113812597, 113812665]]	[[113796558, 113796695], [113810453, 113810475]]
ENST00000547163	[[113812670, 113812970], [113814593, 113814891]]	None
NM_001159727	[[113796370, 113796695], [113806920, 113807014], [113810453, 113810612], [113812278, 113812379], [113812597, 113812812], [113818549, 113818647], [113821909, 113822070], [113823016, 113823088], [113824741, 113824894], [113825548, 113825711], [113826263, 113827458]]	[[113796405, 113796695], [113806920, 113807014], [113810453, 113810612], [113812278, 113812379], [113812597, 113812812], [113818549, 113818647], [113821909, 113822070], [113823016, 113823088], [113824741, 113824894], [113825548, 113825711], [113826263, 113826431]]
NM_173542	[[113796370, 113796695], [113806920, 113807014], [113810453, 113810612], [113812278, 113812379], [113812597, 113812812], [113818549, 113818647], [113821909, 113822070], [113822655, 113822751], [113823016, 113823088], [113824741, 113824894], [113825548, 113825711], [113826263, 113827458]]	[[113796405, 113796695], [113806920, 113807014], [113810453, 113810612], [113812278, 113812379], [113812597, 113812812], [113818549, 113818647], [113821909, 113822070], [113822655, 113822751], [113823016, 113823088], [113824741, 113824894], [113825548, 113825711], [113826263, 113826431]]

Promoter

Chrom	Start	End	Description
chr12	113796347	113796404	CAGE_peak_1_at_PLBD2_5end
chr12	113796410	113796421	CAGE_peak_2_at_PLBD2_5end
chr12	113796443	113796454	CAGE_peak_3_at_PLBD2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I113251	113251528	113252814	0.51	[{'connected_gene': 'RITA1', 'score': 21.84}, {'connected_gene': 'RASAL1', 'score': 13.26}, {'connected_gene': 'IQCD', 'score': 11.99}, {'connected_gene': 'TPCN1', 'score': 11.99}, {'connected_gene': 'DDX54', 'score': 11.2}, {'connected_gene': 'ENSG00000201208', 'score': 11.19}, {'connected_gene': 'PLBD2', 'score': 10.65}, {'connected_gene': 'ENSG00000277566', 'score': 0.77}, {'connected_gene': 'GC12M113256', 'score': 0.37}]
chr12	GH12I113235	113235709	113249082	1.44	[{'connected_gene': 'RITA1', 'score': 24.37}, {'connected_gene': 'RASAL1', 'score': 13.27}, {'connected_gene': 'IQCD', 'score': 12.04}, {'connected_gene': 'TPCN1', 'score': 12.04}, {'connected_gene': 'DDX54', 'score': 11.5}, {'connected_gene': 'ENSG00000201208', 'score': 11.49}, {'connected_gene': 'PLBD2', 'score': 11.07}, {'connected_gene': 'ENSG00000277566', 'score': 0.44}]
chr12	GH12I113333	113333363	113335765	1.98	[{'connected_gene': 'SLC8B1', 'score': 561.95}, {'connected_gene': 'RBM19', 'score': 34.55}, {'connected_gene': 'PLBD2', 'score': 12.05}, {'connected_gene': 'RPL6', 'score': 10.12}, {'connected_gene': 'GC12M113308', 'score': 0.37}]
chr12	GH12I113403	113403601	113404600	1.43	[{'connected_gene': 'SDS', 'score': 550.34}, {'connected_gene': 'SDSL', 'score': 18.47}, {'connected_gene': 'PLBD2', 'score': 11.23}, {'connected_gene': 'LHX5', 'score': 10.0}, {'connected_gene': 'LOC105369989', 'score': 0.26}]
chr12	GH12I113356	113356590	113360621	2.24	[{'connected_gene': 'PLBD2', 'score': 579.24}, {'connected_gene': 'SLC8B1', 'score': 558.54}, {'connected_gene': 'RBM19', 'score': 26.3}, {'connected_gene': 'SDSL', 'score': 20.86}, {'connected_gene': 'RITA1', 'score': 10.66}, {'connected_gene': 'DDX54', 'score': 10.66}, {'connected_gene': 'ENSG00000201208', 'score': 10.65}, {'connected_gene': 'RPL6', 'score': 10.13}, {'connected_gene': 'SDS', 'score': 1.43}, {'connected_gene': 'LOC105369989', 'score': 0.77}]
chr12	GH12I113349	113349163	113349945	0.49	[{'connected_gene': 'PLBD2', 'score': 6.91}, {'connected_gene': 'SLC8B1', 'score': 0.44}, {'connected_gene': 'GC12M113308', 'score': 0.29}]
chr12	GH12I113407	113407925	113408400	0.62	[{'connected_gene': 'PLBD2', 'score': 10.87}, {'connected_gene': 'LHX5', 'score': 10.41}, {'connected_gene': 'SDSL', 'score': 0.39}, {'connected_gene': 'SDS', 'score': 0.37}, {'connected_gene': 'LOC105369989', 'score': 0.25}]
chr12	GH12I113060	113060647	113061831	0.54	[{'connected_gene': 'PLBD2', 'score': 5.82}, {'connected_gene': 'DTX1', 'score': 0.77}, {'connected_gene': 'GC12P113070', 'score': 0.44}]
chr12	GH12I113325	113325420	113327579	0.72	[{'connected_gene': 'PLBD2', 'score': 11.64}, {'connected_gene': 'IQCD', 'score': 11.26}, {'connected_gene': 'TPCN1', 'score': 11.26}, {'connected_gene': 'GC12M113308', 'score': 0.44}, {'connected_gene': 'SLC8B1', 'score': 0.29}]
chr12	GH12I113476	113476996	113477680	0.43	[{'connected_gene': 'PLBD2', 'score': 6.09}, {'connected_gene': 'LHX5-AS1', 'score': 0.44}, {'connected_gene': 'LHX5', 'score': 0.44}, {'connected_gene': 'GC12M113560', 'score': 0.17}]
chr12	GH12I113421	113421256	113423684	2.03	[{'connected_gene': 'SDSL', 'score': 569.81}, {'connected_gene': 'RBM19', 'score': 29.37}, {'connected_gene': 'PLBD2', 'score': 10.92}, {'connected_gene': 'SLC8B1', 'score': 10.38}, {'connected_gene': 'SDS', 'score': 0.77}]
chr12	GH12I113417	113417937	113418888	1.32	[{'connected_gene': 'SDSL', 'score': 31.31}, {'connected_gene': 'PLBD2', 'score': 10.94}, {'connected_gene': 'SLC8B1', 'score': 9.69}, {'connected_gene': 'SDS', 'score': 1.9}, {'connected_gene': 'OAS2', 'score': 1.56}, {'connected_gene': 'OAS3', 'score': 1.42}, {'connected_gene': 'LOC105369989', 'score': 0.22}]
chr12	GH12I113420	113420583	113420708	0.34	[{'connected_gene': 'SDSL', 'score': 574.74}, {'connected_gene': 'PLBD2', 'score': 10.92}, {'connected_gene': 'SLC8B1', 'score': 4.39}, {'connected_gene': 'SDS', 'score': 0.44}, {'connected_gene': 'LOC105369989', 'score': 0.22}]
chr12	GH12I113069	113069404	113072264	1.56	[{'connected_gene': 'GC12P113070', 'score': 550.77}, {'connected_gene': 'ENSG00000201208', 'score': 11.58}, {'connected_gene': 'RITA1', 'score': 11.57}, {'connected_gene': 'DDX54', 'score': 11.57}, {'connected_gene': 'CFAP73', 'score': 11.53}, {'connected_gene': 'DTX1', 'score': 7.53}, {'connected_gene': 'PLBD2', 'score': 5.45}, {'connected_gene': 'SDSL', 'score': 4.87}, {'connected_gene': 'RASAL1', 'score': 0.2}]
chr12	GH12I113322	113322021	113323351	0.52	[{'connected_gene': 'GC12M113308', 'score': 0.77}, {'connected_gene': 'SLC8B1', 'score': 0.28}, {'connected_gene': 'PLBD2', 'score': 0.28}]
chr12	GH12I113250	113250239	113250687	0.2	[{'connected_gene': 'ENSG00000277566', 'score': 550.77}, {'connected_gene': 'IQCD', 'score': 12.01}, {'connected_gene': 'TPCN1', 'score': 12.01}, {'connected_gene': 'DDX54', 'score': 11.2}, {'connected_gene': 'RITA1', 'score': 11.2}, {'connected_gene': 'ENSG00000201208', 'score': 11.19}, {'connected_gene': 'PLBD2', 'score': 10.52}, {'connected_gene': 'GC12M113256', 'score': 0.34}]
chr12	GH12I113270	113270881	113273195	1.51	[{'connected_gene': 'GC12M113256', 'score': 550.77}, {'connected_gene': 'SDSL', 'score': 19.16}, {'connected_gene': 'RASAL1', 'score': 13.23}, {'connected_gene': 'RITA1', 'score': 11.9}, {'connected_gene': 'SLC8B1', 'score': 10.88}, {'connected_gene': 'RBM19', 'score': 9.7}, {'connected_gene': 'OAS2', 'score': 3.59}, {'connected_gene': 'OAS3', 'score': 3.12}, {'connected_gene': 'OAS1', 'score': 2.39}, {'connected_gene': 'PLBD2', 'score': 1.53}, {'connected_gene': 'SDS', 'score': 1.28}, {'connected_gene': 'GC12P113288', 'score': 0.37}, {'connected_gene': 'TPCN1', 'score': 0.23}]