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
ENST00000295049	[[198432947, 198437004], [198460714, 198460793], [198480599, 198480703], [198482523, 198482645], [198495734, 198495944], [198498441, 198498721], [198508881, 198508996], [198511206, 198511390], [198540043, 198540719]]	[[198436731, 198437004], [198460714, 198460793], [198480599, 198480703], [198482523, 198482645], [198495734, 198495944], [198498441, 198498721], [198508881, 198508996], [198511206, 198511390], [198540043, 198540182]]
ENST00000494346	[[198436458, 198437004], [198460714, 198460793], [198480599, 198480703], [198482523, 198482745]]	None
ENST00000454447	[[198436729, 198437004], [198452715, 198452745], [198460714, 198460793], [198480599, 198480703], [198482523, 198482619]]	[[198436731, 198437004], [198452715, 198452745], [198460714, 198460793], [198480599, 198480703], [198482523, 198482619]]
ENST00000429081	[[198508970, 198508996], [198511206, 198511390], [198540043, 198540190], [198540542, 198540769]]	[[198508970, 198508996], [198511206, 198511390], [198540043, 198540182]]
NM_144629	[[198435526, 198437004], [198460714, 198460793], [198480599, 198480703], [198482523, 198482645], [198495734, 198495944], [198498441, 198498721], [198508881, 198508996], [198511206, 198511390], [198540043, 198540584]]	[[198436731, 198437004], [198460714, 198460793], [198480599, 198480703], [198482523, 198482645], [198495734, 198495944], [198498441, 198498721], [198508881, 198508996], [198511206, 198511390], [198540043, 198540182]]

Promoter

Chrom	Start	End	Description
chr2	198540164	198540169	CAGE_peak_6_at_RFTN2_5end
chr2	198540302	198540318	CAGE_peak_1_at_RFTN2_5end
chr2	198540452	198540505	CAGE_peak_3_at_RFTN2_5end
chr2	198540512	198540523	CAGE_peak_5_at_RFTN2_5end
chr2	198540549	198540552	CAGE_peak_9_at_RFTN2_5end
chr2	198540738	198540748	CAGE_peak_4_at_RFTN2_5end
chr2	198540751	198540790	CAGE_peak_2_at_RFTN2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I196798	196798600	196800346	2.11	[{'connected_gene': 'GTF3C3', 'score': 602.84}, {'connected_gene': 'SF3B1', 'score': 27.4}, {'connected_gene': 'NPM1P46', 'score': 19.81}, {'connected_gene': 'RFTN2', 'score': 10.1}, {'connected_gene': 'LOC100130452', 'score': 0.17}]
chr2	GH02I197615	197615137	197615246	0.57	[{'connected_gene': 'MARS2', 'score': 11.08}, {'connected_gene': 'GC02P197600', 'score': 0.39}, {'connected_gene': 'RFTN2', 'score': 0.21}]
chr2	GH02I197660	197660641	197661032	0.22	[{'connected_gene': 'MARS2', 'score': 11.63}, {'connected_gene': 'RFTN2', 'score': 0.37}, {'connected_gene': 'GC02P197600', 'score': 0.22}]
chr2	GH02I197571	197571302	197572392	0.49	[{'connected_gene': 'ANKRD44', 'score': 9.58}, {'connected_gene': 'PLCL1', 'score': 8.13}, {'connected_gene': 'GC02M197569', 'score': 0.77}, {'connected_gene': 'RNY5P2', 'score': 0.31}, {'connected_gene': 'RFTN2', 'score': 0.15}]
chr2	GH02I198134	198134087	198134930	0.4	[{'connected_gene': 'BOLL', 'score': 10.39}, {'connected_gene': 'RFTN2', 'score': 4.64}, {'connected_gene': 'ANKRD44', 'score': 4.49}, {'connected_gene': 'GC02M198022', 'score': 0.77}, {'connected_gene': 'ENSG00000237035', 'score': 0.22}, {'connected_gene': 'PLCL1', 'score': 0.05}]
chr2	GH02I197585	197585186	197589100	0.2	[{'connected_gene': 'BOLL', 'score': 10.25}, {'connected_gene': 'RNU6-1029P', 'score': 10.16}, {'connected_gene': 'SF3B1', 'score': 10.15}, {'connected_gene': 'ANKRD44', 'score': 9.32}, {'connected_gene': 'PLCL1', 'score': 9.1}, {'connected_gene': 'GC02P197600', 'score': 0.39}, {'connected_gene': 'GC02M197569', 'score': 0.39}, {'connected_gene': 'RFTN2', 'score': 0.17}]
chr2	GH02I197847	197847350	197849402	0.67	[{'connected_gene': 'PLCL1', 'score': 10.75}, {'connected_gene': 'BOLL', 'score': 10.28}, {'connected_gene': 'SF3B1', 'score': 9.36}, {'connected_gene': 'RFTN2', 'score': 5.72}, {'connected_gene': 'MOB4', 'score': 1.72}, {'connected_gene': 'GC02P197830', 'score': 0.37}, {'connected_gene': 'GC02M197883', 'score': 0.28}]
chr2	GH02I197803	197803818	197806801	1.93	[{'connected_gene': 'PLCL1', 'score': 562.97}, {'connected_gene': 'SF3B1', 'score': 8.95}, {'connected_gene': 'RFTN2', 'score': 6.15}, {'connected_gene': 'LOC105373828', 'score': 0.77}]
chr2	GH02I197627	197627320	197629030	1.18	[{'connected_gene': 'PLCL1', 'score': 10.97}, {'connected_gene': 'RFTN2', 'score': 9.78}, {'connected_gene': 'COQ10B', 'score': 1.75}, {'connected_gene': 'GC02P197600', 'score': 0.31}]
chr2	GH02I197647	197647936	197649022	0.31	[{'connected_gene': 'PLCL1', 'score': 13.47}, {'connected_gene': 'RFTN2', 'score': 6.76}, {'connected_gene': 'GC02P197600', 'score': 0.25}]
chr2	GH02I197853	197853760	197854568	0.2	[{'connected_gene': 'SF3B1', 'score': 8.42}, {'connected_gene': 'RFTN2', 'score': 6.03}, {'connected_gene': 'GC02P197830', 'score': 0.34}, {'connected_gene': 'GC02M197883', 'score': 0.29}, {'connected_gene': 'PLCL1', 'score': 0.25}]
chr2	GH02I197613	197613597	197613726	1	[{'connected_gene': 'SF3B1', 'score': 19.0}, {'connected_gene': 'GC02P197600', 'score': 0.39}, {'connected_gene': 'RFTN2', 'score': 0.21}]
chr2	GH02I198141	198141095	198147584	0.49	[{'connected_gene': 'RFTN2', 'score': 4.78}, {'connected_gene': 'ANKRD44', 'score': 4.45}, {'connected_gene': 'GC02M198022', 'score': 0.39}, {'connected_gene': 'ENSG00000237035', 'score': 0.25}, {'connected_gene': 'PLCL1', 'score': 0.05}]
chr2	GH02I197928	197928988	197929972	0.96	[{'connected_gene': 'RFTN2', 'score': 6.07}, {'connected_gene': 'GC02M197892', 'score': 0.31}, {'connected_gene': 'GC02M197987', 'score': 0.19}, {'connected_gene': 'PLCL1', 'score': 0.13}]
chr2	GH02I197673	197673600	197677201	1.54	[{'connected_gene': 'RFTN2', 'score': 555.3}, {'connected_gene': 'SF3B1', 'score': 9.36}, {'connected_gene': 'PLCL1', 'score': 8.63}, {'connected_gene': 'GC02P197600', 'score': 0.19}]
chr2	GH02I197589	197589277	197589413	0.2	[{'connected_gene': 'RNU6-1029P', 'score': 9.94}, {'connected_gene': 'SF3B1', 'score': 9.93}, {'connected_gene': 'GC02P197600', 'score': 0.39}, {'connected_gene': 'GC02M197569', 'score': 0.39}, {'connected_gene': 'RFTN2', 'score': 0.17}]
chr2	GH02I197575	197575991	197579552	0.74	[{'connected_gene': 'GC02M197569', 'score': 550.77}, {'connected_gene': 'BOLL', 'score': 10.25}, {'connected_gene': 'PLCL1', 'score': 8.27}, {'connected_gene': 'GC02P197600', 'score': 0.34}, {'connected_gene': 'RFTN2', 'score': 0.15}]
chr2	GH02I197707	197707517	197707846	0.68	[{'connected_gene': 'PIR59727', 'score': 550.77}, {'connected_gene': 'RFTN2', 'score': 6.87}, {'connected_gene': 'MARS2', 'score': 0.77}, {'connected_gene': 'ENSG00000222017', 'score': 0.39}, {'connected_gene': 'GC02M197694', 'score': 0.23}]
chr2	GH02I197693	197693201	197693400	0.54	[{'connected_gene': 'ENSG00000222017', 'score': 550.77}, {'connected_gene': 'RFTN2', 'score': 6.99}, {'connected_gene': 'MARS2', 'score': 0.39}]
chr2	GH02I197596	197596602	197597657	0.2	[{'connected_gene': 'GC02P197600', 'score': 0.77}, {'connected_gene': 'GC02M197569', 'score': 0.34}, {'connected_gene': 'RFTN2', 'score': 0.18}]
chr2	GH02I197599	197599264	197599999	0.6	[{'connected_gene': 'GC02P197600', 'score': 550.77}, {'connected_gene': 'GC02M197569', 'score': 0.34}, {'connected_gene': 'RFTN2', 'score': 0.18}]