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
ENST00000408888	[[235294497, 235295312], [235298966, 235299085], [235299348, 235299388], [235301191, 235301255], [235301405, 235301489], [235311718, 235311762], [235316020, 235316080], [235318195, 235318427], [235323825, 235323962], [235324207, 235324382], [235324488, 235324772]]	[[235295027, 235295312], [235298966, 235299085], [235299348, 235299388], [235301191, 235301255], [235301405, 235301489], [235311718, 235311762], [235316020, 235316080], [235318195, 235318427], [235323825, 235323962], [235324207, 235324382], [235324488, 235324541]]
ENST00000366606	[[235294498, 235295312], [235298966, 235299085], [235299348, 235299388], [235301191, 235301255], [235301405, 235301489], [235311718, 235311762], [235316020, 235316080], [235318195, 235318427], [235323825, 235323962], [235324207, 235324382], [235324488, 235324571]]	[[235295027, 235295312], [235298966, 235299085], [235299348, 235299388], [235301191, 235301255], [235301405, 235301489], [235311718, 235311762], [235316020, 235316080], [235318195, 235318427], [235323825, 235323962], [235324207, 235324382], [235324488, 235324526]]
ENST00000495224	[[235294963, 235295312], [235298966, 235299085], [235299348, 235299429]]	None
ENST00000447801	[[235294981, 235295312], [235298966, 235299085], [235299348, 235299388], [235301191, 235301255], [235301405, 235301489], [235311718, 235311762], [235318195, 235318427], [235323825, 235323962], [235324207, 235324382], [235324488, 235324535]]	[[235295027, 235295312], [235298966, 235299085], [235299348, 235299388], [235301191, 235301255], [235301405, 235301489], [235311718, 235311762], [235318195, 235318427], [235323825, 235323962], [235324207, 235324382], [235324488, 235324535]]
ENST00000474086	[[235298963, 235299085], [235299348, 235299388], [235301191, 235301255], [235301405, 235301489], [235311718, 235311762], [235316020, 235316080], [235318195, 235318427], [235324207, 235324382], [235324488, 235324549]]	[[235318403, 235318427], [235324207, 235324382], [235324488, 235324549]]
ENST00000476261	[[235315802, 235316080], [235318195, 235318427], [235323825, 235323962], [235324207, 235324382], [235324488, 235324547]]	None
ENST00000468751	[[235318195, 235318427], [235323825, 235323962], [235324207, 235324486]]	None
ENST00000429912	[[235318244, 235318427], [235319909, 235319996], [235323825, 235323962], [235324207, 235324382], [235324488, 235324573]]	[[235318244, 235318427], [235319909, 235319996], [235323825, 235323962], [235324207, 235324382], [235324488, 235324541]]
ENST00000475960	[[235318402, 235318427], [235323825, 235324277]]	None
ENST00000486751	[[235323464, 235323962], [235324207, 235324382], [235324488, 235324598]]	None
ENST00000485019	[[235323509, 235323563], [235323825, 235323962], [235324207, 235324382], [235324488, 235324531]]	None
NR_144490	[[235294497, 235295312], [235298966, 235299085], [235299348, 235299388], [235301191, 235301255], [235301405, 235301489], [235311718, 235311762], [235316020, 235316080], [235318195, 235318427], [235323825, 235324382], [235324488, 235324931]]	None
NR_144492	[[235294497, 235295312], [235298966, 235299085], [235299348, 235299388], [235301191, 235301255], [235301405, 235301489], [235311718, 235311762], [235318195, 235318427], [235323825, 235324382], [235324488, 235324931]]	None
NM_015014	[[235294497, 235295312], [235298966, 235299085], [235299348, 235299388], [235301191, 235301255], [235301405, 235301489], [235311718, 235311762], [235316020, 235316080], [235318195, 235318427], [235323825, 235323962], [235324207, 235324382], [235324488, 235324931]]	[[235295027, 235295312], [235298966, 235299085], [235299348, 235299388], [235301191, 235301255], [235301405, 235301489], [235311718, 235311762], [235316020, 235316080], [235318195, 235318427], [235323825, 235323962], [235324207, 235324382], [235324488, 235324541]]
NM_001346738	[[235294497, 235295312], [235298966, 235299082], [235299348, 235299388], [235301191, 235301255], [235301405, 235301489], [235311718, 235311762], [235316020, 235316080], [235318195, 235318427], [235323825, 235323962], [235324207, 235324382], [235324488, 235324931]]	[[235295027, 235295312], [235298966, 235299082], [235299348, 235299388], [235301191, 235301255], [235301405, 235301489], [235311718, 235311762], [235316020, 235316080], [235318195, 235318427], [235323825, 235323962], [235324207, 235324382], [235324488, 235324541]]
NR_027762	[[235294497, 235295312], [235298966, 235299085], [235299348, 235299388], [235301191, 235301255], [235301405, 235301489], [235311718, 235311762], [235316020, 235316080], [235318195, 235318427], [235324207, 235324382], [235324488, 235324931]]	None
NR_144491	[[235294497, 235295312], [235298966, 235299082], [235299348, 235299388], [235301191, 235301255], [235301405, 235301489], [235311718, 235311762], [235316020, 235316080], [235318195, 235318427], [235324207, 235324382], [235324488, 235324931]]	None

Promoter

Chrom	Start	End	Description
chr1	235324381	235324386	CAGE_peak_5_at_RBM34_5end
chr1	235324390	235324400	CAGE_peak_6_at_RBM34_5end
chr1	235324482	235324489	CAGE_peak_2_at_RBM34_5end
chr1	235324530	235324613	CAGE_peak_1_at_RBM34_5end
chr1	235324821	235324849	CAGE_peak_4_at_RBM34_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I235126	235126709	235131259	2.12	[{'connected_gene': 'TOMM20', 'score': 556.05}, {'connected_gene': 'LOC105379283', 'score': 550.77}, {'connected_gene': 'GC01M235128', 'score': 550.77}, {'connected_gene': 'SNORA14B', 'score': 550.77}, {'connected_gene': 'GC01M235129', 'score': 550.77}, {'connected_gene': 'ARID4B', 'score': 62.06}, {'connected_gene': 'RPS21P1', 'score': 35.37}, {'connected_gene': 'IRF2BP2', 'score': 21.3}, {'connected_gene': 'LDHAP2', 'score': 19.23}, {'connected_gene': 'GGPS1', 'score': 17.91}, {'connected_gene': 'LYST', 'score': 9.99}, {'connected_gene': 'TBCE', 'score': 9.83}, {'connected_gene': 'TARBP1', 'score': 9.78}, {'connected_gene': 'RBM34', 'score': 9.49}, {'connected_gene': 'GC01P235131', 'score': 0.77}]
chr1	GH01I235304	235304098	235306400	1.4	[{'connected_gene': 'ARID4B', 'score': 28.78}, {'connected_gene': 'GGPS1', 'score': 27.73}, {'connected_gene': 'LINC01354', 'score': 11.13}, {'connected_gene': 'TBCE', 'score': 10.26}, {'connected_gene': 'RBM34', 'score': 3.07}, {'connected_gene': 'GC01M235309', 'score': 0.77}, {'connected_gene': 'RPL23AP23', 'score': 0.44}]
chr1	GH01I234953	234953377	234966199	1.86	[{'connected_gene': 'ARID4B', 'score': 53.72}, {'connected_gene': 'TBCE', 'score': 39.88}, {'connected_gene': 'RPS21P1', 'score': 34.25}, {'connected_gene': 'IRF2BP2', 'score': 32.41}, {'connected_gene': 'LOC101927851', 'score': 18.02}, {'connected_gene': 'B3GALNT2', 'score': 12.51}, {'connected_gene': 'ENSG00000228830', 'score': 12.35}, {'connected_gene': 'GGPS1', 'score': 10.29}, {'connected_gene': 'RBM34', 'score': 1.77}, {'connected_gene': 'LOC105373211', 'score': 0.44}]
chr1	GH01I235641	235641620	235643708	1.22	[{'connected_gene': 'ARID4B', 'score': 22.49}, {'connected_gene': 'ENSG00000273058', 'score': 22.22}, {'connected_gene': 'ENSG00000230325', 'score': 16.57}, {'connected_gene': 'HEATR1', 'score': 15.75}, {'connected_gene': 'RPS21P1', 'score': 14.98}, {'connected_gene': 'GNG4', 'score': 14.2}, {'connected_gene': 'LYST', 'score': 5.14}, {'connected_gene': 'RBM34', 'score': 4.46}, {'connected_gene': 'LOC100131725', 'score': 0.31}]
chr1	GH01I235010	235010042	235014399	1.7	[{'connected_gene': 'ARID4B', 'score': 52.34}, {'connected_gene': 'IRF2BP2', 'score': 38.72}, {'connected_gene': 'RPS21P1', 'score': 25.14}, {'connected_gene': 'TBCE', 'score': 13.77}, {'connected_gene': 'LDHAP2', 'score': 10.01}, {'connected_gene': 'RBM34', 'score': 2.16}, {'connected_gene': 'GC01P235015', 'score': 0.77}, {'connected_gene': 'GC01P235007', 'score': 0.77}, {'connected_gene': 'GC01M235000', 'score': 0.34}]
chr1	GH01I234840	234840202	234845825	1.67	[{'connected_gene': 'IRF2BP2', 'score': 17.66}, {'connected_gene': 'ENSG00000228830', 'score': 11.81}, {'connected_gene': 'RBM34', 'score': 3.35}, {'connected_gene': 'RNY4P16', 'score': 0.44}, {'connected_gene': 'PIR44809', 'score': 0.23}]
chr1	GH01I235156	235156377	235157707	0.46	[{'connected_gene': 'RBM34', 'score': 0.77}, {'connected_gene': 'GC01P235131', 'score': 0.31}, {'connected_gene': 'ARID4B', 'score': 0.09}]
chr1	GH01I235159	235159974	235162375	2.1	[{'connected_gene': 'RBM34', 'score': 550.77}, {'connected_gene': 'RPS21P1', 'score': 24.03}, {'connected_gene': 'GGPS1', 'score': 15.35}, {'connected_gene': 'ARID4B', 'score': 11.62}, {'connected_gene': 'IRF2BP2', 'score': 10.83}, {'connected_gene': 'LDHAP2', 'score': 10.64}, {'connected_gene': 'LYST', 'score': 10.01}, {'connected_gene': 'TBCE', 'score': 5.79}, {'connected_gene': 'GC01P235131', 'score': 0.29}]
chr1	GH01I235502	235502299	235506278	2.63	[{'connected_gene': 'B3GALNT2', 'score': 578.93}, {'connected_gene': 'ARID4B', 'score': 27.95}, {'connected_gene': 'RPS21P1', 'score': 22.64}, {'connected_gene': 'IRF2BP2', 'score': 21.79}, {'connected_gene': 'GGPS1', 'score': 21.28}, {'connected_gene': 'TBCE', 'score': 18.7}, {'connected_gene': 'LDHAP2', 'score': 10.06}, {'connected_gene': 'RBM34', 'score': 1.86}, {'connected_gene': 'GC01M235462', 'score': 0.31}]
chr1	GH01I235295	235295601	235298388	1.66	[{'connected_gene': 'RPL23AP23', 'score': 550.77}, {'connected_gene': 'ARID4B', 'score': 31.55}, {'connected_gene': 'RPS21P1', 'score': 15.02}, {'connected_gene': 'GGPS1', 'score': 15.01}, {'connected_gene': 'TOMM20', 'score': 4.48}, {'connected_gene': 'RBM34', 'score': 3.23}, {'connected_gene': 'GC01M235309', 'score': 0.39}]
chr1	GH01I234968	234968350	234989683	2.19	[{'connected_gene': 'ENSG00000258082', 'score': 550.77}, {'connected_gene': 'ARID4B', 'score': 138.49}, {'connected_gene': 'RPS21P1', 'score': 66.27}, {'connected_gene': 'GGPS1', 'score': 59.11}, {'connected_gene': 'IRF2BP2', 'score': 55.22}, {'connected_gene': 'TBCE', 'score': 48.93}, {'connected_gene': 'LDHAP2', 'score': 19.49}, {'connected_gene': 'LOC101927851', 'score': 17.55}, {'connected_gene': 'TARBP1', 'score': 13.97}, {'connected_gene': 'ENSG00000228830', 'score': 12.2}, {'connected_gene': 'LINC01354', 'score': 11.15}, {'connected_gene': 'GNG4', 'score': 10.98}, {'connected_gene': 'TOMM20', 'score': 9.8}, {'connected_gene': 'RBM34', 'score': 2.08}]