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
ENST00000409998	[[188207855, 188211126], [188216646, 188216688], [188216840, 188217059], [188223789, 188223856], [188223938, 188223999], [188225324, 188225478], [188228102, 188228229], [188243666, 188243758], [188245193, 188245306], [188245403, 188245514], [188247899, 188248032], [188250271, 188250358], [188252055, 188252220], [188252392, 188252483], [188296023, 188296091], [188312765, 188313187]]	[[188210910, 188211126], [188216646, 188216688], [188216840, 188217059], [188223789, 188223856], [188223938, 188223999], [188225324, 188225478], [188228102, 188228229], [188243666, 188243758], [188245193, 188245306], [188245403, 188245514], [188247899, 188248032], [188250271, 188250322]]
ENST00000392370	[[188207855, 188211126], [188216646, 188216688], [188216840, 188217059], [188223789, 188223856], [188223938, 188223999], [188225324, 188225478], [188228102, 188228229], [188243666, 188243758], [188245193, 188245306], [188245403, 188245514], [188247899, 188248032], [188250271, 188250358], [188252055, 188252220], [188252392, 188252483], [188312765, 188313187]]	[[188210910, 188211126], [188216646, 188216688], [188216840, 188217059], [188223789, 188223856], [188223938, 188223999], [188225324, 188225478], [188228102, 188228229], [188243666, 188243758], [188245193, 188245306], [188245403, 188245514], [188247899, 188248032], [188250271, 188250322]]
ENST00000410068	[[188210653, 188211126], [188216646, 188216688], [188216840, 188217059], [188223789, 188223856], [188223938, 188223999], [188225324, 188225478], [188228102, 188228229], [188243666, 188243758], [188245193, 188245306], [188245403, 188245514], [188247899, 188248032], [188250271, 188250358], [188252392, 188252483], [188312765, 188312979]]	[[188210910, 188211126], [188216646, 188216688], [188216840, 188217059], [188223789, 188223856], [188223938, 188223999], [188225324, 188225478], [188228102, 188228229], [188243666, 188243758], [188245193, 188245306], [188245403, 188245514], [188247899, 188248032], [188250271, 188250322]]
ENST00000447403	[[188245465, 188245514], [188247899, 188248032], [188250271, 188250358], [188252392, 188252483], [188296023, 188296091], [188312765, 188312979]]	[[188245465, 188245514], [188247899, 188248032], [188250271, 188250322]]
ENST00000410102	[[188247970, 188248032], [188250271, 188250358], [188252055, 188252192], [188252392, 188252483], [188312765, 188312979]]	[[188247970, 188248032], [188250271, 188250322]]
ENST00000474212	[[188252064, 188252220], [188252392, 188252483], [188296023, 188296091], [188301324, 188301383], [188312765, 188312979]]	None
ENST00000485973	[[188252125, 188252483], [188312765, 188312980]]	None
ENST00000461244	[[188252392, 188252483], [188296023, 188296091], [188301324, 188301383], [188306649, 188306786], [188312765, 188312979]]	None
ENST00000479784	[[188293063, 188293616], [188296023, 188296091], [188312765, 188312873]]	None
NM_005795	[[188206689, 188211126], [188216646, 188216688], [188216840, 188217059], [188223789, 188223856], [188223938, 188223999], [188225324, 188225478], [188228102, 188228229], [188243666, 188243758], [188245193, 188245306], [188245403, 188245514], [188247899, 188248032], [188250271, 188250358], [188252055, 188252220], [188252392, 188252483], [188312765, 188313021]]	[[188210910, 188211126], [188216646, 188216688], [188216840, 188217059], [188223789, 188223856], [188223938, 188223999], [188225324, 188225478], [188228102, 188228229], [188243666, 188243758], [188245193, 188245306], [188245403, 188245514], [188247899, 188248032], [188250271, 188250322]]
NM_001271751	[[188206689, 188211126], [188216646, 188216688], [188216840, 188217059], [188223789, 188223856], [188223938, 188223999], [188225324, 188225478], [188228102, 188228229], [188243666, 188243758], [188245193, 188245306], [188245403, 188245514], [188247899, 188248032], [188250271, 188250358], [188252392, 188252483], [188312765, 188313021]]	[[188210910, 188211126], [188216646, 188216688], [188216840, 188217059], [188223789, 188223856], [188223938, 188223999], [188225324, 188225478], [188228102, 188228229], [188243666, 188243758], [188245193, 188245306], [188245403, 188245514], [188247899, 188248032], [188250271, 188250322]]

Promoter

Chrom	Start	End	Description
chr2	188312865	188312876	CAGE_peak_3_at_CALCRL_5end
chr2	188312971	188312987	CAGE_peak_1_at_CALCRL_5end
chr2	188312993	188313033	CAGE_peak_2_at_CALCRL_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I187500	187500074	187505927	1.11	[{'connected_gene': 'TFPI', 'score': 18.68}, {'connected_gene': 'GAPDHP59', 'score': 9.94}, {'connected_gene': 'CALCRL', 'score': 9.69}, {'connected_gene': 'GC02M187465', 'score': 0.28}, {'connected_gene': 'LOC105373786', 'score': 0.04}]
chr2	GH02I187508	187508998	187512631	1.15	[{'connected_gene': 'TFPI', 'score': 18.43}, {'connected_gene': 'CALCRL', 'score': 11.64}, {'connected_gene': 'GAPDHP59', 'score': 8.75}, {'connected_gene': 'GC02M187465', 'score': 0.26}, {'connected_gene': 'LOC105373786', 'score': 0.03}]
chr2	GH02I187526	187526169	187531371	1.33	[{'connected_gene': 'TFPI', 'score': 15.94}, {'connected_gene': 'CALCRL', 'score': 11.5}, {'connected_gene': 'FAM171B', 'score': 3.67}, {'connected_gene': 'GC02M187465', 'score': 0.21}, {'connected_gene': 'LOC105373786', 'score': 0.03}]
chr2	GH02I187539	187539134	187555344	2.74	[{'connected_gene': 'TFPI', 'score': 575.08}, {'connected_gene': 'CALCRL', 'score': 12.73}, {'connected_gene': 'ZSWIM2', 'score': 10.05}, {'connected_gene': 'GAPDHP59', 'score': 5.02}, {'connected_gene': 'ST13P2', 'score': 4.47}, {'connected_gene': 'GC02M187465', 'score': 0.18}, {'connected_gene': 'LOC105373786', 'score': 0.03}]
chr2	GH02I187525	187525017	187526023	0.46	[{'connected_gene': 'TFPI', 'score': 27.72}, {'connected_gene': 'CALCRL', 'score': 10.92}, {'connected_gene': 'GC02M187465', 'score': 0.22}, {'connected_gene': 'LOC105373786', 'score': 0.03}]
chr2	GH02I187360	187360374	187360523	0.31	[{'connected_gene': 'GAPDHP59', 'score': 0.22}, {'connected_gene': 'GC02M187271', 'score': 0.17}, {'connected_gene': 'CALCRL', 'score': 0.17}, {'connected_gene': 'RNU6-989P', 'score': 0.17}, {'connected_gene': 'LOC105373786', 'score': 0.05}]
chr2	GH02I186917	186917937	186920526	0.46	[{'connected_gene': 'ZSWIM2', 'score': 10.29}, {'connected_gene': 'CALCRL', 'score': 7.21}, {'connected_gene': 'TFPI', 'score': 3.83}, {'connected_gene': 'PIR60867', 'score': 0.18}, {'connected_gene': 'GC02M187006', 'score': 0.18}]
chr2	GH02I187532	187532247	187533647	0.46	[{'connected_gene': 'CALCRL', 'score': 12.35}, {'connected_gene': 'TFPI', 'score': 0.29}, {'connected_gene': 'GC02M187465', 'score': 0.2}, {'connected_gene': 'LOC105373786', 'score': 0.03}]
chr2	GH02I187516	187516071	187517315	0.83	[{'connected_gene': 'CALCRL', 'score': 27.34}, {'connected_gene': 'TFPI', 'score': 21.97}, {'connected_gene': 'GC02M187465', 'score': 0.23}, {'connected_gene': 'LOC105373786', 'score': 0.03}]
chr2	GH02I187523	187523207	187523872	0.31	[{'connected_gene': 'CALCRL', 'score': 9.5}, {'connected_gene': 'TFPI', 'score': 0.26}, {'connected_gene': 'GC02M187465', 'score': 0.22}, {'connected_gene': 'LOC105373786', 'score': 0.03}]
chr2	GH02I187349	187349173	187349914	0.42	[{'connected_gene': 'CALCRL', 'score': 14.75}, {'connected_gene': 'GAPDHP59', 'score': 0.2}, {'connected_gene': 'GC02M187271', 'score': 0.18}, {'connected_gene': 'RNU6-989P', 'score': 0.18}, {'connected_gene': 'LOC105373786', 'score': 0.05}]
chr2	GH02I187402	187402470	187405906	1	[{'connected_gene': 'CALCRL', 'score': 15.05}, {'connected_gene': 'GAPDHP59', 'score': 0.39}, {'connected_gene': 'GC02M187271', 'score': 0.12}, {'connected_gene': 'RNU6-989P', 'score': 0.12}, {'connected_gene': 'LOC105373786', 'score': 0.05}]
chr2	GH02I187445	187445094	187448942	2.03	[{'connected_gene': 'CALCRL', 'score': 567.57}, {'connected_gene': 'GAPDHP59', 'score': 9.76}, {'connected_gene': 'GC02P187416', 'score': 0.29}, {'connected_gene': 'LOC105373786', 'score': 0.04}]
chr2	GH02I186956	186956481	186957827	0.31	[{'connected_gene': 'CALCRL', 'score': 15.87}, {'connected_gene': 'PIR60867', 'score': 0.25}, {'connected_gene': 'GC02M187006', 'score': 0.25}, {'connected_gene': 'ZSWIM2', 'score': 0.14}]
chr2	GH02I187263	187263500	187265398	0.74	[{'connected_gene': 'CALCRL', 'score': 9.04}, {'connected_gene': 'GC02M187271', 'score': 0.44}, {'connected_gene': 'RNU6-989P', 'score': 0.44}, {'connected_gene': 'GC02P187224', 'score': 0.26}, {'connected_gene': 'GC02P187232', 'score': 0.26}, {'connected_gene': 'GC02P187226', 'score': 0.26}, {'connected_gene': 'GC02P187225', 'score': 0.26}, {'connected_gene': 'GC02P187228', 'score': 0.26}, {'connected_gene': 'GC02P187223', 'score': 0.26}, {'connected_gene': 'PIR41343', 'score': 0.26}, {'connected_gene': 'GC02P187227', 'score': 0.26}, {'connected_gene': 'LOC105373786', 'score': 0.07}]
chr2	GH02I187423	187423844	187424801	0.6	[{'connected_gene': 'CALCRL', 'score': 17.11}, {'connected_gene': 'GC02P187416', 'score': 0.44}, {'connected_gene': 'LOC105373786', 'score': 0.05}]
chr2	GH02I187429	187429181	187431301	0.83	[{'connected_gene': 'CALCRL', 'score': 15.09}, {'connected_gene': 'GC02P187416', 'score': 0.39}, {'connected_gene': 'LOC105373786', 'score': 0.04}]
chr2	GH02I187426	187426484	187428502	0.2	[{'connected_gene': 'CALCRL', 'score': 26.92}, {'connected_gene': 'GC02P187416', 'score': 0.39}, {'connected_gene': 'LOC105373786', 'score': 0.05}]
chr2	GH02I187461	187461469	187462213	0.84	[{'connected_gene': 'CALCRL', 'score': 15.96}, {'connected_gene': 'GC02M187465', 'score': 0.77}, {'connected_gene': 'LOC105373786', 'score': 0.05}]
chr2	GH02I187415	187415015	187416243	0.43	[{'connected_gene': 'GC02P187416', 'score': 550.77}, {'connected_gene': 'GAPDHP59', 'score': 550.77}, {'connected_gene': 'CALCRL', 'score': 14.58}, {'connected_gene': 'LOC105373786', 'score': 0.05}]