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
ENST00000271971	[[230883129, 230883455], [230891082, 230891152], [230895257, 230895376], [230898398, 230898532], [230903286, 230903455], [230904925, 230905009], [230907759, 230907845], [230910299, 230910377], [230914718, 230914879], [230915924, 230916082], [230916245, 230916454], [230921726, 230921763], [230923267, 230923348], [230925877, 230925935], [230927609, 230927674], [230928171, 230928240], [230928595, 230928674], [230930908, 230931025], [230933907, 230933966], [230937315, 230937518]]	[[230883242, 230883455], [230891082, 230891152], [230895257, 230895376], [230898398, 230898532], [230903286, 230903455], [230904925, 230905009], [230907759, 230907845], [230910299, 230910377], [230914718, 230914879], [230915924, 230916082], [230916245, 230916454], [230921726, 230921763], [230923267, 230923348], [230925877, 230925935], [230927609, 230927674], [230928171, 230928240], [230928595, 230928674], [230930908, 230931025], [230933907, 230933966], [230937315, 230937342]]
ENST00000354537	[[230883160, 230883455], [230891082, 230891152], [230895257, 230895376], [230898398, 230898532], [230903286, 230903455], [230904925, 230905009], [230907759, 230907845], [230914718, 230914879], [230915924, 230916082], [230916245, 230916454], [230921726, 230921763], [230923267, 230923348], [230925877, 230925935], [230927609, 230927674], [230928171, 230928240], [230928595, 230928674], [230930908, 230931025], [230933907, 230933966], [230937315, 230937749]]	[[230883242, 230883455], [230891082, 230891152], [230895257, 230895376], [230898398, 230898532], [230903286, 230903455], [230904925, 230905009], [230907759, 230907845], [230914718, 230914879], [230915924, 230916082], [230916245, 230916454], [230921726, 230921763], [230923267, 230923348], [230925877, 230925935], [230927609, 230927674], [230928171, 230928240], [230928595, 230928674], [230930908, 230931025], [230933907, 230933966], [230937315, 230937342]]
ENST00000366666	[[230883178, 230883455], [230898398, 230898532], [230903286, 230903455], [230904925, 230905009], [230907759, 230907845], [230910299, 230910377], [230914718, 230914879], [230915924, 230916082], [230916245, 230916454], [230921726, 230921763], [230923267, 230923348], [230925877, 230925935], [230927609, 230927674], [230928171, 230928240], [230928595, 230928674], [230930908, 230931025], [230933907, 230933966], [230937315, 230937517]]	[[230883242, 230883455], [230898398, 230898532], [230903286, 230903455], [230904925, 230905009], [230907759, 230907845], [230910299, 230910377], [230914718, 230914879], [230915924, 230916082], [230916245, 230916454], [230921726, 230921763], [230923267, 230923348], [230925877, 230925935], [230927609, 230927674], [230928171, 230928240], [230928595, 230928674], [230930908, 230931025], [230933907, 230933966], [230937315, 230937342]]
ENST00000480004	[[230927622, 230927674], [230928171, 230928240], [230928595, 230928674], [230930908, 230931025], [230937315, 230937508]]	None
NM_001319676	[[230883129, 230883455], [230898398, 230898532], [230903286, 230903455], [230904925, 230905009], [230907759, 230907845], [230910299, 230910377], [230914718, 230914879], [230915924, 230916082], [230916245, 230916454], [230921726, 230921763], [230923267, 230923348], [230925877, 230925935], [230927609, 230927674], [230928171, 230928240], [230928595, 230928674], [230930908, 230931025], [230933907, 230933966], [230937315, 230937518]]	[[230883242, 230883455], [230898398, 230898532], [230903286, 230903455], [230904925, 230905009], [230907759, 230907845], [230910299, 230910377], [230914718, 230914879], [230915924, 230916082], [230916245, 230916454], [230921726, 230921763], [230923267, 230923348], [230925877, 230925935], [230927609, 230927674], [230928171, 230928240], [230928595, 230928674], [230930908, 230931025], [230933907, 230933966], [230937315, 230937342]]
NM_016452	[[230883129, 230883455], [230891082, 230891152], [230895257, 230895376], [230898398, 230898532], [230903286, 230903455], [230904925, 230905009], [230907759, 230907845], [230914718, 230914879], [230915924, 230916082], [230916245, 230916454], [230921726, 230921763], [230923267, 230923348], [230925877, 230925935], [230927609, 230927674], [230928171, 230928240], [230928595, 230928674], [230930908, 230931025], [230933907, 230933966], [230937315, 230937518]]	[[230883242, 230883455], [230891082, 230891152], [230895257, 230895376], [230898398, 230898532], [230903286, 230903455], [230904925, 230905009], [230907759, 230907845], [230914718, 230914879], [230915924, 230916082], [230916245, 230916454], [230921726, 230921763], [230923267, 230923348], [230925877, 230925935], [230927609, 230927674], [230928171, 230928240], [230928595, 230928674], [230930908, 230931025], [230933907, 230933966], [230937315, 230937342]]
NM_006615	[[230883129, 230883455], [230891082, 230891152], [230895257, 230895376], [230898398, 230898532], [230903286, 230903455], [230904925, 230905009], [230907759, 230907845], [230910299, 230910377], [230914718, 230914879], [230915924, 230916082], [230916245, 230916454], [230921726, 230921763], [230923267, 230923348], [230925877, 230925935], [230927609, 230927674], [230928171, 230928240], [230928595, 230928674], [230930908, 230931025], [230933907, 230933966], [230937315, 230937518]]	[[230883242, 230883455], [230891082, 230891152], [230895257, 230895376], [230898398, 230898532], [230903286, 230903455], [230904925, 230905009], [230907759, 230907845], [230910299, 230910377], [230914718, 230914879], [230915924, 230916082], [230916245, 230916454], [230921726, 230921763], [230923267, 230923348], [230925877, 230925935], [230927609, 230927674], [230928171, 230928240], [230928595, 230928674], [230930908, 230931025], [230933907, 230933966], [230937315, 230937342]]

Promoter

Chrom	Start	End	Description
chr1	230883128	230883162	CAGE_peak_1_at_CAPN9_5end
chr1	230883185	230883196	CAGE_peak_2_at_CAPN9_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I230806	230806403	230809616	0.75	[{'connected_gene': 'C1orf198', 'score': 17.77}, {'connected_gene': 'CAPN9', 'score': 14.17}, {'connected_gene': 'LOC101927604', 'score': 10.88}, {'connected_gene': 'COG2', 'score': 9.69}, {'connected_gene': 'ENSG00000244137', 'score': 0.39}, {'connected_gene': 'GC01P230821', 'score': 0.39}]
chr1	GH01I230800	230800173	230802106	0.46	[{'connected_gene': 'C1orf198', 'score': 10.71}, {'connected_gene': 'LOC101927604', 'score': 10.69}, {'connected_gene': 'AGT', 'score': 10.58}, {'connected_gene': 'COG2', 'score': 9.69}, {'connected_gene': 'CAPN9', 'score': 7.69}, {'connected_gene': 'ENSG00000244137', 'score': 0.44}, {'connected_gene': 'GC01P230821', 'score': 0.37}, {'connected_gene': 'GC01P230769', 'score': 0.29}]
chr1	GH01I230834	230834660	230842344	0.43	[{'connected_gene': 'C1orf198', 'score': 17.53}, {'connected_gene': 'LOC101927604', 'score': 11.72}, {'connected_gene': 'ENSG00000244137', 'score': 9.11}, {'connected_gene': 'CAPN9', 'score': 9.03}, {'connected_gene': 'ENSG00000225656', 'score': 0.39}]
chr1	GH01I230681	230681521	230682364	0.93	[{'connected_gene': 'AGT', 'score': 8.17}, {'connected_gene': 'CAPN9', 'score': 5.25}, {'connected_gene': 'GC01P230666', 'score': 0.37}, {'connected_gene': 'COG2', 'score': 0.28}]
chr1	GH01I230799	230799248	230799779	0.2	[{'connected_gene': 'AGT', 'score': 11.12}, {'connected_gene': 'LOC101927604', 'score': 10.84}, {'connected_gene': 'C1orf198', 'score': 10.69}, {'connected_gene': 'COG2', 'score': 9.69}, {'connected_gene': 'CAPN9', 'score': 6.48}, {'connected_gene': 'ENSG00000244137', 'score': 0.77}, {'connected_gene': 'GC01P230821', 'score': 0.34}, {'connected_gene': 'GC01P230769', 'score': 0.31}]
chr1	GH01I230758	230758355	230760858	0.94	[{'connected_gene': 'CAPN9', 'score': 19.83}, {'connected_gene': 'AGT', 'score': 11.46}, {'connected_gene': 'COG2', 'score': 10.6}, {'connected_gene': 'LOC101927604', 'score': 10.36}, {'connected_gene': 'GC01P230769', 'score': 0.39}, {'connected_gene': 'ENSG00000244137', 'score': 0.28}]
chr1	GH01I230750	230750246	230755426	1.7	[{'connected_gene': 'CAPN9', 'score': 19.26}, {'connected_gene': 'AGT', 'score': 16.3}, {'connected_gene': 'COG2', 'score': 10.52}, {'connected_gene': 'GC01P230769', 'score': 0.37}, {'connected_gene': 'ENSG00000244137', 'score': 0.26}]
chr1	GH01I230746	230746809	230748700	1.32	[{'connected_gene': 'CAPN9', 'score': 564.49}, {'connected_gene': 'AGT', 'score': 5.4}, {'connected_gene': 'GC01P230769', 'score': 0.34}, {'connected_gene': 'ENSG00000244137', 'score': 0.25}]
chr1	GH01I230749	230749001	230749200	0.66	[{'connected_gene': 'CAPN9', 'score': 556.23}, {'connected_gene': 'GC01P230769', 'score': 0.34}, {'connected_gene': 'ENSG00000244137', 'score': 0.25}]
chr1	GH01I230831	230831339	230833154	0.52	[{'connected_gene': 'LOC101927604', 'score': 17.11}, {'connected_gene': 'C1orf198', 'score': 11.28}, {'connected_gene': 'CAPN9', 'score': 9.38}, {'connected_gene': 'ENSG00000225656', 'score': 0.44}]
chr1	GH01I230814	230814874	230816622	0.38	[{'connected_gene': 'LOC101927604', 'score': 16.64}, {'connected_gene': 'CAPN9', 'score': 14.39}, {'connected_gene': 'C1orf198', 'score': 10.66}, {'connected_gene': 'GC01P230821', 'score': 0.77}, {'connected_gene': 'ENSG00000244137', 'score': 0.34}]
chr1	GH01I230797	230797955	230798104	0.91	[{'connected_gene': 'LOC101927604', 'score': 10.27}, {'connected_gene': 'ENSG00000244137', 'score': 0.77}, {'connected_gene': 'GC01P230821', 'score': 0.34}, {'connected_gene': 'GC01P230769', 'score': 0.31}, {'connected_gene': 'CAPN9', 'score': 0.23}]
chr1	GH01I230818	230818104	230819452	0.2	[{'connected_gene': 'RNA5SP79', 'score': 550.77}, {'connected_gene': 'GC01P230821', 'score': 550.77}, {'connected_gene': 'LOC101927604', 'score': 16.72}, {'connected_gene': 'CAPN9', 'score': 14.38}, {'connected_gene': 'ENSG00000244137', 'score': 0.34}]
chr1	GH01I230820	230820574	230828814	1.21	[{'connected_gene': 'ENSG00000225656', 'score': 550.77}, {'connected_gene': 'C1orf131', 'score': 27.19}, {'connected_gene': 'C1orf198', 'score': 18.03}, {'connected_gene': 'LOC101927604', 'score': 17.36}, {'connected_gene': 'CAPN9', 'score': 13.03}, {'connected_gene': 'COG2', 'score': 9.46}, {'connected_gene': 'ENSG00000244137', 'score': 5.88}, {'connected_gene': 'RNA5SP79', 'score': 0.77}]
chr1	GH01I230768	230768848	230770004	0.87	[{'connected_gene': 'GC01P230769', 'score': 550.77}, {'connected_gene': 'CAPN9', 'score': 30.43}, {'connected_gene': 'LOC101927604', 'score': 10.83}, {'connected_gene': 'C1orf198', 'score': 10.18}, {'connected_gene': 'COG2', 'score': 10.12}, {'connected_gene': 'ENSG00000244137', 'score': 0.31}]