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
ENST00000548125	[[107349496, 107349843], [107360888, 107360958], [107364882, 107367814]]	[[107360894, 107360958], [107364882, 107365169]]
ENST00000280756	[[107349499, 107349843], [107350859, 107350927], [107360888, 107360958], [107364882, 107367762]]	[[107360894, 107360958], [107364882, 107365169]]
ENST00000547242	[[107349605, 107349843], [107350859, 107350927], [107353065, 107353163], [107360888, 107360958], [107364882, 107365219]]	[[107360894, 107360958], [107364882, 107365169]]
ENST00000551489	[[107349621, 107349843], [107350859, 107350927], [107360888, 107360958], [107361060, 107361179], [107364882, 107365024]]	[[107360894, 107360958], [107361060, 107361167]]
ENST00000550344	[[107349644, 107349843], [107350859, 107350927], [107353047, 107353163], [107360888, 107360958], [107364882, 107365354]]	[[107360894, 107360958], [107364882, 107365169]]
ENST00000547081	[[107350562, 107350927], [107360888, 107360958], [107364882, 107365280]]	[[107360894, 107360958], [107364882, 107365169]]
ENST00000551813	[[107360712, 107360958], [107364882, 107366119]]	[[107360894, 107360958], [107364882, 107365169]]
ENST00000548806	[[107365206, 107365421], [107372127, 107372556]]	None
ENST00000551237	[[107365248, 107365421], [107368728, 107368832], [107369897, 107370007], [107372127, 107372535]]	None
NM_001319661	[[107349499, 107349843], [107360888, 107360958], [107364882, 107367815]]	[[107360894, 107360958], [107364882, 107365169]]
NM_152261	[[107349499, 107349843], [107350859, 107350927], [107360888, 107360958], [107364882, 107367815]]	[[107360894, 107360958], [107364882, 107365169]]
NM_001319666	[[107349499, 107349843], [107350859, 107350927], [107360888, 107360958], [107361060, 107361179], [107364882, 107367815]]	[[107364887, 107365169]]
NM_001319663	[[107349499, 107349843], [107350859, 107350927], [107353065, 107353163], [107360888, 107360958], [107364882, 107367815]]	[[107360894, 107360958], [107364882, 107365169]]
NM_001319664	[[107349499, 107349843], [107350859, 107350927], [107353047, 107353163], [107360888, 107360958], [107364882, 107367815]]	[[107360894, 107360958], [107364882, 107365169]]
NM_001319662	[[107350562, 107350927], [107360888, 107360958], [107364882, 107367815]]	[[107360894, 107360958], [107364882, 107365169]]

Promoter

Chrom	Start	End	Description
chr12	107349568	107349578	CAGE_peak_4_at_C12orf23_5end
chr12	107349627	107349664	CAGE_peak_2_at_C12orf23_5end
chr12	107349668	107349708	CAGE_peak_1_at_C12orf23_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I106919	106919883	106920012	0.56	[{'connected_gene': 'TMEM263', 'score': 12.45}, {'connected_gene': 'MTERF2', 'score': 5.44}, {'connected_gene': 'RPL30P12', 'score': 0.44}, {'connected_gene': 'GC12P106941', 'score': 0.34}]
chr12	GH12I106990	106989601	106989800	0.31	[{'connected_gene': 'TMEM263', 'score': 10.57}, {'connected_gene': 'MTERF2', 'score': 0.77}, {'connected_gene': 'GC12M106992', 'score': 0.77}]
chr12	GH12I106989	106989103	106989252	0.31	[{'connected_gene': 'TMEM263', 'score': 10.9}, {'connected_gene': 'MTERF2', 'score': 0.77}, {'connected_gene': 'GC12M106992', 'score': 0.77}]
chr12	GH12I106600	106600643	106600792	0.2	[{'connected_gene': 'TMEM263', 'score': 4.12}, {'connected_gene': 'RFX4', 'score': 0.37}, {'connected_gene': 'PIR51055', 'score': 0.18}, {'connected_gene': 'LOC100287944', 'score': 0.09}]
chr12	GH12I106891	106891882	106892997	0.54	[{'connected_gene': 'TMEM263', 'score': 12.56}, {'connected_gene': 'POLR3B', 'score': 9.65}, {'connected_gene': 'GC12P106896', 'score': 0.77}, {'connected_gene': 'LOC105369961', 'score': 0.44}]
chr12	GH12I106920	106920023	106920172	0.59	[{'connected_gene': 'TMEM263', 'score': 11.32}, {'connected_gene': 'POLR3B', 'score': 10.86}, {'connected_gene': 'RPL30P12', 'score': 0.44}, {'connected_gene': 'GC12P106941', 'score': 0.34}]
chr12	GH12I106753	106753187	106754273	0.63	[{'connected_gene': 'TMEM263', 'score': 5.58}, {'connected_gene': 'ENSG00000260329', 'score': 4.63}, {'connected_gene': 'GC12M106740', 'score': 0.39}, {'connected_gene': 'GC12P106769', 'score': 0.37}, {'connected_gene': 'LOC100287944', 'score': 0.34}, {'connected_gene': 'RFX4', 'score': 0.09}]
chr12	GH12I106978	106978238	106978815	0.74	[{'connected_gene': 'MTERF2', 'score': 7.72}, {'connected_gene': 'GC12P106984', 'score': 0.44}, {'connected_gene': 'GC12M106953', 'score': 0.34}, {'connected_gene': 'TMEM263', 'score': 0.31}]
chr12	GH12I106974	106974623	106974812	0.85	[{'connected_gene': 'MTERF2', 'score': 7.1}, {'connected_gene': 'GC12P106984', 'score': 0.39}, {'connected_gene': 'GC12M106953', 'score': 0.37}, {'connected_gene': 'TMEM263', 'score': 0.34}]
chr12	GH12I106958	106958401	106959200	0.49	[{'connected_gene': 'MTERF2', 'score': 12.51}, {'connected_gene': 'GC12M106953', 'score': 0.77}, {'connected_gene': 'TMEM263', 'score': 0.44}, {'connected_gene': 'GC12P106984', 'score': 0.31}]
chr12	GH12I106672	106672148	106673461	0.78	[{'connected_gene': 'RFX4', 'score': 10.72}, {'connected_gene': 'POLR3B', 'score': 9.15}, {'connected_gene': 'ENSG00000260329', 'score': 7.55}, {'connected_gene': 'TMEM263', 'score': 5.61}, {'connected_gene': 'PIR51055', 'score': 0.44}, {'connected_gene': 'LOC100287944', 'score': 0.15}]
chr12	GH12I106831	106831378	106832188	0.54	[{'connected_gene': 'POLR3B', 'score': 9.58}, {'connected_gene': 'ENSG00000260329', 'score': 5.22}, {'connected_gene': 'TMEM263', 'score': 4.65}, {'connected_gene': 'GC12M106826', 'score': 0.77}, {'connected_gene': 'GC12M106848', 'score': 0.34}, {'connected_gene': 'RIC8B', 'score': 0.22}]
chr12	GH12I106918	106918863	106919032	0.56	[{'connected_gene': 'POLR3B', 'score': 11.43}, {'connected_gene': 'TMEM263', 'score': 10.75}, {'connected_gene': 'RPL30P12', 'score': 0.44}, {'connected_gene': 'GC12P106941', 'score': 0.34}]
chr12	GH12I106369	106369198	106370681	0.54	[{'connected_gene': 'TCP11L2', 'score': 22.62}, {'connected_gene': 'TMEM263', 'score': 10.0}, {'connected_gene': 'GC12M106356', 'score': 0.39}, {'connected_gene': 'POLR3B', 'score': 0.39}, {'connected_gene': 'GC12P106417', 'score': 0.25}]
chr12	GH12I106299	106299521	106305193	2.6	[{'connected_gene': 'TCP11L2', 'score': 559.71}, {'connected_gene': 'CKAP4', 'score': 550.77}, {'connected_gene': 'ENSG00000260329', 'score': 11.73}, {'connected_gene': 'POLR3B', 'score': 10.82}, {'connected_gene': 'MTERF2', 'score': 10.4}, {'connected_gene': 'TMEM263', 'score': 4.46}]
chr12	GH12I106903	106903201	106904019	0.8	[{'connected_gene': 'EEF1B2P4', 'score': 550.77}, {'connected_gene': 'TMEM263', 'score': 23.07}, {'connected_gene': 'ENSG00000260329', 'score': 11.91}, {'connected_gene': 'POLR3B', 'score': 10.17}, {'connected_gene': 'RIC8B', 'score': 10.17}, {'connected_gene': 'RPL30P12', 'score': 0.44}]
chr12	GH12I106954	106954004	106958209	2.06	[{'connected_gene': 'ENSG00000260329', 'score': 576.47}, {'connected_gene': 'TMEM263', 'score': 563.83}, {'connected_gene': 'GC12M106953', 'score': 550.77}, {'connected_gene': 'MTERF2', 'score': 10.66}, {'connected_gene': 'GC12P106984', 'score': 0.31}]
chr12	GH12I106953	106953599	106954000	0.76	[{'connected_gene': 'GC12M106953', 'score': 550.77}, {'connected_gene': 'TMEM263', 'score': 550.77}, {'connected_gene': 'ENSG00000260329', 'score': 550.77}]
chr12	GH12I107030	107030379	107031730	0.31	[{'connected_gene': 'GC12M107024', 'score': 550.77}, {'connected_gene': 'MTERF2', 'score': 11.14}, {'connected_gene': 'TMEM263', 'score': 10.7}, {'connected_gene': 'PIR33339', 'score': 0.44}, {'connected_gene': 'CRY1', 'score': 0.21}]
chr12	GH12I106975	106974960	106977012	1.12	[{'connected_gene': 'ENSG00000260329', 'score': 15.14}, {'connected_gene': 'MTERF2', 'score': 7.67}, {'connected_gene': 'GC12P106984', 'score': 0.44}, {'connected_gene': 'GC12M106953', 'score': 0.34}, {'connected_gene': 'TMEM263', 'score': 0.34}]
chr12	GH12I106861	106861725	106862824	0.54	[{'connected_gene': 'ENSG00000260329', 'score': 10.65}, {'connected_gene': 'RIC8B', 'score': 10.36}, {'connected_gene': 'TMEM263', 'score': 5.53}, {'connected_gene': 'GC12M106848', 'score': 0.44}, {'connected_gene': 'LOC105369961', 'score': 0.34}]
chr12	GH12I106733	106733323	106734762	0.49	[{'connected_gene': 'ENSG00000257918', 'score': 550.77}, {'connected_gene': 'RIC8B', 'score': 10.92}, {'connected_gene': 'ENSG00000260329', 'score': 9.99}, {'connected_gene': 'TMEM263', 'score': 5.46}, {'connected_gene': 'GC12M106740', 'score': 0.44}, {'connected_gene': 'LOC100287944', 'score': 0.26}, {'connected_gene': 'RFX4', 'score': 0.1}]