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
ENST00000234396	[[71163011, 71163202], [71170787, 71170843], [71185175, 71185274], [71185462, 71185556], [71186147, 71186225], [71187068, 71187208], [71188050, 71188152], [71188725, 71188823], [71189906, 71190030], [71190291, 71190442], [71190701, 71190784], [71191567, 71191672], [71191865, 71191995], [71192087, 71192527]]	[[71163084, 71163202], [71170787, 71170843], [71185175, 71185274], [71185462, 71185556], [71186147, 71186225], [71187068, 71187208], [71188050, 71188152], [71188725, 71188823], [71189906, 71190030], [71190291, 71190442], [71190701, 71190784], [71191567, 71191672], [71191865, 71191995], [71192087, 71192251]]
ENST00000432367	[[71163031, 71163202], [71170787, 71170843], [71185175, 71185274], [71185462, 71185556], [71186147, 71186225], [71187068, 71187208], [71188050, 71188177], [71188725, 71188823], [71189906, 71190030], [71190291, 71190442], [71190701, 71190784], [71191567, 71191672], [71191865, 71191995], [71192087, 71192536]]	[[71163084, 71163202], [71170787, 71170843], [71185175, 71185274], [71185462, 71185556], [71186147, 71186225], [71187068, 71187208], [71188050, 71188177], [71188725, 71188760]]
ENST00000412314	[[71163050, 71163202], [71170787, 71170843], [71185175, 71185274], [71185462, 71185556], [71186147, 71186225], [71187068, 71187208], [71188050, 71188152], [71188725, 71188823], [71189906, 71190030], [71190291, 71190391], [71190701, 71190784], [71191567, 71191672], [71191865, 71191995], [71192087, 71192531]]	[[71163084, 71163202], [71170787, 71170843], [71185175, 71185274], [71185462, 71185556], [71186147, 71186225], [71187068, 71187208], [71188050, 71188152], [71188725, 71188823], [71189906, 71190030], [71190291, 71190391], [71190701, 71190784], [71191567, 71191672], [71191865, 71191995], [71192087, 71192251]]
ENST00000454446	[[71170503, 71170843], [71185175, 71185274], [71185462, 71185556], [71186147, 71186225], [71187068, 71187208], [71188050, 71188162]]	[[71170618, 71170843], [71185175, 71185274], [71185462, 71185556], [71186147, 71186225], [71187068, 71187208], [71188050, 71188162]]
ENST00000432098	[[71170707, 71170843], [71185175, 71185274], [71185462, 71185556], [71186147, 71186225], [71187068, 71187207]]	[[71185549, 71185556], [71186147, 71186225], [71187068, 71187207]]
ENST00000463380	[[71184900, 71185274], [71185462, 71185556], [71186147, 71186225], [71187068, 71187096]]	None
ENST00000495118	[[71187068, 71187208], [71188050, 71188152], [71188725, 71188950]]	None
ENST00000433895	[[71190751, 71190784], [71191199, 71191241], [71191567, 71191672], [71191865, 71191995], [71192087, 71192249]]	[[71191609, 71191672], [71191865, 71191995], [71192087, 71192249]]
NM_001692	[[71162997, 71163202], [71170787, 71170843], [71185175, 71185274], [71185462, 71185556], [71186147, 71186225], [71187068, 71187208], [71188050, 71188152], [71188725, 71188823], [71189906, 71190030], [71190291, 71190442], [71190701, 71190784], [71191567, 71191672], [71191865, 71191995], [71192087, 71192561]]	[[71163084, 71163202], [71170787, 71170843], [71185175, 71185274], [71185462, 71185556], [71186147, 71186225], [71187068, 71187208], [71188050, 71188152], [71188725, 71188823], [71189906, 71190030], [71190291, 71190442], [71190701, 71190784], [71191567, 71191672], [71191865, 71191995], [71192087, 71192251]]

Promoter

Chrom	Start	End	Description
chr2	71162995	71163037	CAGE_peak_1_at_ATP6V1B1_5end
chr2	71163052	71163063	CAGE_peak_2_at_ATP6V1B1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I070936	70936781	70938124	0.52	[{'connected_gene': 'ATP6V1B1', 'score': 550.77}, {'connected_gene': 'CLEC4F', 'score': 7.15}, {'connected_gene': 'VAX2', 'score': 5.7}, {'connected_gene': 'ATP6V1B1-AS1', 'score': 0.39}]
chr2	GH02I070939	70939211	70939360	0.43	[{'connected_gene': 'ATP6V1B1', 'score': 0.77}, {'connected_gene': 'ATP6V1B1-AS1', 'score': 0.44}, {'connected_gene': 'ENSG00000258881', 'score': 0.22}]
chr2	GH02I070935	70935851	70935910	0.79	[{'connected_gene': 'ATP6V1B1', 'score': 559.06}, {'connected_gene': 'ATP6V1B1-AS1', 'score': 0.39}]
chr2	GH02I070940	70939131	70939171	0.43	[{'connected_gene': 'ATP6V1B1', 'score': 0.77}, {'connected_gene': 'ATP6V1B1-AS1', 'score': 0.44}]
chr2	GH02I070850	70850867	70852500	0.82	[{'connected_gene': 'CD207', 'score': 39.72}, {'connected_gene': 'VAX2', 'score': 11.56}, {'connected_gene': 'ATP6V1B1', 'score': 11.25}, {'connected_gene': 'ATP6V1B1-AS1', 'score': 11.17}, {'connected_gene': 'ADD2', 'score': 10.37}, {'connected_gene': 'FIGLA', 'score': 1.36}, {'connected_gene': 'LINC01143', 'score': 0.28}]
chr2	GH02I070908	70908001	70908400	0.43	[{'connected_gene': 'VAX2', 'score': 0.44}, {'connected_gene': 'ATP6V1B1', 'score': 0.31}]
chr2	GH02I070907	70907271	70907380	0.38	[{'connected_gene': 'VAX2', 'score': 0.44}, {'connected_gene': 'ATP6V1B1', 'score': 0.31}]
chr2	GH02I070906	70906801	70907200	0.38	[{'connected_gene': 'VAX2', 'score': 0.44}, {'connected_gene': 'ATP6V1B1', 'score': 0.31}]
chr2	GH02I070900	70900200	70902196	1.98	[{'connected_gene': 'VAX2', 'score': 555.43}, {'connected_gene': 'ENSG00000277764', 'score': 550.77}, {'connected_gene': 'CLEC4F', 'score': 10.37}, {'connected_gene': 'ATP6V1B1', 'score': 0.29}]
chr2	GH02I070965	70965000	70965401	1.33	[{'connected_gene': 'RN7SL160P', 'score': 550.77}, {'connected_gene': 'ELOCP21', 'score': 0.44}, {'connected_gene': 'ATP6V1B1', 'score': 0.31}, {'connected_gene': 'ENSG00000258881', 'score': 0.29}]
chr2	GH02I070947	70947660	70949180	1.06	[{'connected_gene': 'ATP6V1B1-AS1', 'score': 550.77}, {'connected_gene': 'ATP6V1B1', 'score': 0.39}, {'connected_gene': 'ENSG00000258881', 'score': 0.25}]
chr2	GH02I070946	70946971	70947120	0.72	[{'connected_gene': 'ATP6V1B1-AS1', 'score': 550.77}, {'connected_gene': 'ATP6V1B1', 'score': 0.39}, {'connected_gene': 'ENSG00000258881', 'score': 0.25}]
chr2	GH02I070921	70921640	70922661	0.73	[{'connected_gene': 'ATP6V1B1-AS1', 'score': 12.27}, {'connected_gene': 'VAX2', 'score': 12.09}, {'connected_gene': 'ADD2', 'score': 10.53}, {'connected_gene': 'ATP6V1B1', 'score': 7.53}]
chr2	GH02I070919	70919951	70920100	0.89	[{'connected_gene': 'ATP6V1B1-AS1', 'score': 12.27}, {'connected_gene': 'ADD2', 'score': 10.53}, {'connected_gene': 'CD207', 'score': 10.49}, {'connected_gene': 'ATP6V1B1', 'score': 0.37}, {'connected_gene': 'VAX2', 'score': 0.37}]