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
ENST00000299855	[[102706531, 102706957], [102708028, 102708132], [102709281, 102709441], [102709840, 102709974], [102710838, 102710983], [102711159, 102711324], [102712884, 102713010], [102713161, 102713310], [102713402, 102713647], [102714172, 102714534]]	[[102706856, 102706957], [102708028, 102708132], [102709281, 102709441], [102709840, 102709974], [102710838, 102710983], [102711159, 102711324], [102712884, 102713010], [102713161, 102713310], [102713402, 102713647], [102714172, 102714277]]
ENST00000434103	[[102707227, 102707259], [102708028, 102708132], [102709281, 102709441]]	[[102707227, 102707259], [102708028, 102708132], [102709281, 102709441]]
ENST00000524478	[[102712982, 102713010], [102713161, 102713310], [102713402, 102713647], [102714201, 102714338]]	[[102713594, 102713647], [102714201, 102714277]]
NM_002422	[[102706527, 102706957], [102708028, 102708132], [102709281, 102709441], [102709840, 102709974], [102710838, 102710983], [102711159, 102711324], [102712884, 102713010], [102713161, 102713310], [102713402, 102713647], [102714172, 102714420]]	[[102706856, 102706957], [102708028, 102708132], [102709281, 102709441], [102709840, 102709974], [102710838, 102710983], [102711159, 102711324], [102712884, 102713010], [102713161, 102713310], [102713402, 102713647], [102714172, 102714277]]

Promoter

Chrom	Start	End	Description
chr11	102714328	102714346	CAGE_peak_1_at_MMP3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I102759	102759919	102764066	1.22	[{'connected_gene': 'DYNC2H1', 'score': 24.68}, {'connected_gene': 'C11orf70', 'score': 12.51}, {'connected_gene': 'MMP1', 'score': 11.22}, {'connected_gene': 'MMP8', 'score': 11.11}, {'connected_gene': 'MMP3', 'score': 9.84}, {'connected_gene': 'MMP27', 'score': 6.0}, {'connected_gene': 'MMP7', 'score': 5.44}, {'connected_gene': 'BIRC2', 'score': 1.57}, {'connected_gene': 'ENSG00000225678', 'score': 0.44}, {'connected_gene': 'LOC100421658', 'score': 0.44}, {'connected_gene': 'WTAPP1', 'score': 0.37}]
chr11	GH11I102729	102729365	102731309	0.66	[{'connected_gene': 'MMP27', 'score': 17.88}, {'connected_gene': 'BIRC2', 'score': 11.61}, {'connected_gene': 'MMP10', 'score': 11.07}, {'connected_gene': 'MMP1', 'score': 10.47}, {'connected_gene': 'MMP3', 'score': 9.92}, {'connected_gene': 'RNU7-159P', 'score': 9.49}, {'connected_gene': 'MMP8', 'score': 0.77}, {'connected_gene': 'WTAPP1', 'score': 0.37}]
chr11	GH11I102989	102989120	102990040	0.31	[{'connected_gene': 'MMP13', 'score': 11.36}, {'connected_gene': 'MMP3', 'score': 10.45}, {'connected_gene': 'RNU7-159P', 'score': 9.85}, {'connected_gene': 'MMP1', 'score': 9.63}, {'connected_gene': 'ENSG00000276521', 'score': 0.34}, {'connected_gene': 'RPL21P96', 'score': 0.22}]
chr11	GH11I102919	102919914	102920800	0.83	[{'connected_gene': 'MMP13', 'score': 11.14}, {'connected_gene': 'MMP3', 'score': 10.37}, {'connected_gene': 'RNU7-159P', 'score': 0.37}]
chr11	GH11I102928	102928496	102931248	0.62	[{'connected_gene': 'MMP13', 'score': 10.94}, {'connected_gene': 'RNU7-159P', 'score': 10.93}, {'connected_gene': 'MMP3', 'score': 10.76}, {'connected_gene': 'MMP1', 'score': 10.52}]
chr11	GH11I102874	102874972	102875031	0.61	[{'connected_gene': 'MMP12', 'score': 550.77}, {'connected_gene': 'MMP3', 'score': 0.29}]
chr11	GH11I102733	102733370	102733519	0.66	[{'connected_gene': 'MMP10', 'score': 11.08}, {'connected_gene': 'MMP27', 'score': 10.56}, {'connected_gene': 'MMP1', 'score': 10.48}, {'connected_gene': 'MMP3', 'score': 9.92}, {'connected_gene': 'RNU7-159P', 'score': 9.49}, {'connected_gene': 'MMP8', 'score': 0.44}, {'connected_gene': 'WTAPP1', 'score': 0.39}]
chr11	GH11I102780	102780319	102781309	1.26	[{'connected_gene': 'MMP10', 'score': 550.77}, {'connected_gene': 'MMP3', 'score': 9.68}, {'connected_gene': 'MMP1', 'score': 4.87}, {'connected_gene': 'WTAPP1', 'score': 0.29}]
chr11	GH11I102727	102727401	102728851	0.89	[{'connected_gene': 'MMP8', 'score': 550.77}, {'connected_gene': 'MMP27', 'score': 19.15}, {'connected_gene': 'MMP10', 'score': 11.07}, {'connected_gene': 'MMP1', 'score': 10.46}, {'connected_gene': 'MMP3', 'score': 9.91}, {'connected_gene': 'RNU7-159P', 'score': 9.49}, {'connected_gene': 'BIRC2', 'score': 8.01}, {'connected_gene': 'TMEM123', 'score': 1.75}, {'connected_gene': 'BIRC3', 'score': 1.47}, {'connected_gene': 'WTAPP1', 'score': 0.37}]
chr11	GH11I102783	102783078	102784554	0.56	[{'connected_gene': 'MMP3', 'score': 10.33}, {'connected_gene': 'MMP13', 'score': 9.42}, {'connected_gene': 'MMP10', 'score': 0.77}, {'connected_gene': 'MMP1', 'score': 0.39}, {'connected_gene': 'WTAPP1', 'score': 0.28}]
chr11	GH11I102843	102843401	102843987	0.81	[{'connected_gene': 'MMP3', 'score': 550.77}, {'connected_gene': 'MMP1', 'score': 7.54}, {'connected_gene': 'PIR58757', 'score': 0.29}]
chr11	GH11I102235	102235063	102235839	0.51	[{'connected_gene': 'MMP3', 'score': 8.39}, {'connected_gene': 'ENSG00000254422', 'score': 0.77}, {'connected_gene': 'LOC105369460', 'score': 0.29}]
chr11	GH11I102238	102238219	102238990	0.8	[{'connected_gene': 'MMP3', 'score': 8.39}, {'connected_gene': 'ENSG00000254422', 'score': 0.44}, {'connected_gene': 'LOC105369460', 'score': 0.31}]
chr11	GH11I102237	102237150	102237299	0.4	[{'connected_gene': 'MMP3', 'score': 8.39}, {'connected_gene': 'ENSG00000254422', 'score': 0.44}, {'connected_gene': 'LOC105369460', 'score': 0.29}]
chr11	GH11I102836	102836630	102836779	0.43	[{'connected_gene': 'MMP1', 'score': 14.5}, {'connected_gene': 'BIRC2', 'score': 11.63}, {'connected_gene': 'RNU7-159P', 'score': 9.88}, {'connected_gene': 'MMP3', 'score': 0.44}, {'connected_gene': 'PIR58757', 'score': 0.31}, {'connected_gene': 'WTAPP1', 'score': 0.17}]
chr11	GH11I102830	102830970	102832679	0.54	[{'connected_gene': 'MMP1', 'score': 19.58}, {'connected_gene': 'RNU7-159P', 'score': 10.26}, {'connected_gene': 'MMP13', 'score': 9.97}, {'connected_gene': 'MMP3', 'score': 0.39}, {'connected_gene': 'PIR58757', 'score': 0.34}, {'connected_gene': 'WTAPP1', 'score': 0.18}]
chr11	GH11I102848	102848984	102852024	0.56	[{'connected_gene': 'MMP1', 'score': 9.99}, {'connected_gene': 'RNU7-159P', 'score': 9.92}, {'connected_gene': 'MMP3', 'score': 0.44}, {'connected_gene': 'MMP12', 'score': 0.34}]
chr11	GH11I102927	102927837	102928118	0.24	[{'connected_gene': 'RNU7-159P', 'score': 10.96}, {'connected_gene': 'MMP13', 'score': 10.9}, {'connected_gene': 'MMP3', 'score': 10.77}]
chr11	GH11I102924	102924770	102925545	0.43	[{'connected_gene': 'RNU7-159P', 'score': 10.96}, {'connected_gene': 'MMP13', 'score': 10.88}, {'connected_gene': 'MMP3', 'score': 10.77}]
chr11	GH11I103035	103035572	103036708	0.95	[{'connected_gene': 'RNU7-159P', 'score': 9.86}, {'connected_gene': 'MMP3', 'score': 9.45}, {'connected_gene': 'RPL21P96', 'score': 0.44}, {'connected_gene': 'ENSG00000276521', 'score': 0.2}]
chr11	GH11I102853	102853342	102854930	0.2	[{'connected_gene': 'RNU7-159P', 'score': 10.78}, {'connected_gene': 'MMP1', 'score': 10.41}, {'connected_gene': 'MMP3', 'score': 0.39}, {'connected_gene': 'MMP12', 'score': 0.34}]
chr11	GH11I102941	102941132	102941181	0.59	[{'connected_gene': 'RNU7-159P', 'score': 10.86}, {'connected_gene': 'MMP1', 'score': 10.33}, {'connected_gene': 'MMP3', 'score': 10.25}, {'connected_gene': 'MMP8', 'score': 9.73}, {'connected_gene': 'MMP13', 'score': 0.39}]
chr11	GH11I102811	102811210	102811359	0.49	[{'connected_gene': 'PIR58757', 'score': 550.77}, {'connected_gene': 'MMP3', 'score': 0.29}, {'connected_gene': 'WTAPP1', 'score': 0.21}]