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
ENST00000261531	[[78183941, 78184629], [78184709, 78184873], [78187053, 78187171], [78189523, 78189620], [78197330, 78197472], [78198827, 78198944], [78201289, 78201355], [78202279, 78202349], [78203313, 78203418], [78205120, 78205227], [78205308, 78205404], [78217661, 78217823], [78221309, 78221463], [78227456, 78227533]]	[[78184430, 78184629], [78184709, 78184873], [78187053, 78187171], [78189523, 78189620], [78197330, 78197472], [78198827, 78198944], [78201289, 78201355], [78202279, 78202349], [78203313, 78203418], [78205120, 78205227], [78205308, 78205404], [78217661, 78217823], [78221309, 78221463], [78227456, 78227470]]
ENST00000554775	[[78183970, 78184629], [78184709, 78184873], [78187053, 78187171], [78189523, 78189620], [78197330, 78197472], [78198827, 78198944], [78201289, 78201355], [78202279, 78202349], [78203313, 78203418], [78205120, 78205227], [78227456, 78227498]]	[[78184430, 78184629], [78184709, 78184873], [78187053, 78187171], [78189523, 78189620], [78197330, 78197472], [78198827, 78198944], [78201289, 78201355], [78202279, 78202349], [78203313, 78203418], [78205120, 78205167]]
ENST00000556428	[[78184133, 78184629], [78184709, 78184873], [78187053, 78187171], [78189523, 78189620], [78197330, 78197472], [78198827, 78198944], [78201289, 78201355], [78202279, 78202349], [78203313, 78203418], [78205120, 78205227], [78205308, 78205404], [78217661, 78217823], [78221309, 78221441], [78227456, 78227550]]	[[78221311, 78221441], [78227456, 78227470]]
ENST00000555761	[[78184295, 78184873], [78187053, 78187171], [78189523, 78189620], [78197330, 78197472], [78198827, 78198944], [78201289, 78201355], [78202279, 78202349], [78203313, 78203418], [78205120, 78205227], [78205308, 78205404], [78217661, 78217823], [78221309, 78221463], [78227456, 78227499]]	[[78184405, 78184873], [78187053, 78187171], [78189523, 78189620], [78197330, 78197472], [78198827, 78198944], [78201289, 78201355], [78202279, 78202349], [78203313, 78203418], [78205120, 78205227], [78205308, 78205404], [78217661, 78217823], [78221309, 78221463], [78227456, 78227470]]
ENST00000553565	[[78197198, 78197472], [78198827, 78198944], [78201289, 78201355], [78202279, 78202349], [78203313, 78203350]]	None
ENST00000554324	[[78198881, 78198944], [78201289, 78201355], [78205308, 78205404], [78217661, 78217823], [78221309, 78221463], [78227456, 78227499]]	[[78198881, 78198944], [78201289, 78201355], [78205308, 78205404], [78217661, 78217823], [78221309, 78221463], [78227456, 78227470]]
ENST00000557663	[[78205080, 78205227], [78205308, 78205404], [78217661, 78217823], [78221309, 78221463], [78227456, 78227499]]	None
NM_001318844	[[78183941, 78184873], [78187053, 78187171], [78189523, 78189620], [78197330, 78197472], [78198827, 78198944], [78201289, 78201355], [78202279, 78202349], [78203313, 78203418], [78205120, 78205227], [78205308, 78205404], [78217661, 78217823], [78221309, 78221463], [78227456, 78227497]]	[[78184405, 78184873], [78187053, 78187171], [78189523, 78189620], [78197330, 78197472], [78198827, 78198944], [78201289, 78201355], [78202279, 78202349], [78203313, 78203418], [78205120, 78205227], [78205308, 78205404], [78217661, 78217823], [78221309, 78221463], [78227456, 78227470]]
NM_012245	[[78183941, 78184629], [78184709, 78184873], [78187053, 78187171], [78189523, 78189620], [78197330, 78197472], [78198827, 78198944], [78201289, 78201355], [78202279, 78202349], [78203313, 78203418], [78205120, 78205227], [78205308, 78205404], [78217661, 78217823], [78221309, 78221463], [78227456, 78227497]]	[[78184430, 78184629], [78184709, 78184873], [78187053, 78187171], [78189523, 78189620], [78197330, 78197472], [78198827, 78198944], [78201289, 78201355], [78202279, 78202349], [78203313, 78203418], [78205120, 78205227], [78205308, 78205404], [78217661, 78217823], [78221309, 78221463], [78227456, 78227470]]

Promoter

Chrom	Start	End	Description
chr14	78227476	78227513	CAGE_peak_1_at_SNW1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I077588	77588065	77595054	1.36	[{'connected_gene': 'SPTLC2', 'score': 22.2}, {'connected_gene': 'ADCK1', 'score': 20.42}, {'connected_gene': 'RPL21P10', 'score': 4.74}, {'connected_gene': 'SNW1', 'score': 3.45}, {'connected_gene': 'RN7SL587P', 'score': 0.26}]
chr14	GH14I077580	77580445	77583199	1.24	[{'connected_gene': 'SPTLC2', 'score': 27.14}, {'connected_gene': 'RPL21P10', 'score': 14.27}, {'connected_gene': 'ALKBH1', 'score': 12.8}, {'connected_gene': 'SNW1', 'score': 12.7}, {'connected_gene': 'VIPAS39', 'score': 12.33}, {'connected_gene': 'VASH1', 'score': 11.15}, {'connected_gene': 'ZMYND19P1', 'score': 11.12}, {'connected_gene': 'ENSG00000259081', 'score': 11.01}, {'connected_gene': 'RPL22P2', 'score': 10.64}, {'connected_gene': 'NGB', 'score': 9.83}, {'connected_gene': 'ANGEL1', 'score': 4.83}, {'connected_gene': 'RN7SL587P', 'score': 0.29}]
chr14	GH14I077565	77565001	77566600	1.05	[{'connected_gene': 'SPTLC2', 'score': 16.59}, {'connected_gene': 'POMT2', 'score': 9.96}, {'connected_gene': 'GSTZ1', 'score': 9.96}, {'connected_gene': 'SNW1', 'score': 2.46}, {'connected_gene': 'RN7SL587P', 'score': 0.37}]
chr14	GH14I077614	77614894	77617550	2.23	[{'connected_gene': 'SPTLC2', 'score': 561.1}, {'connected_gene': 'SNW1', 'score': 46.87}, {'connected_gene': 'VIPAS39', 'score': 34.59}, {'connected_gene': 'ALKBH1', 'score': 34.59}, {'connected_gene': 'RPL22P2', 'score': 34.22}, {'connected_gene': 'ADCK1', 'score': 19.91}, {'connected_gene': 'ZMYND19P1', 'score': 19.89}, {'connected_gene': 'RPL21P10', 'score': 10.42}, {'connected_gene': 'IRF2BPL', 'score': 9.91}, {'connected_gene': 'RN7SL587P', 'score': 0.2}]
chr14	GH14I077003	77003662	77010833	1.26	[{'connected_gene': 'CIPC', 'score': 15.64}, {'connected_gene': 'SNW1', 'score': 13.85}, {'connected_gene': 'IRF2BPL', 'score': 12.61}, {'connected_gene': 'ALKBH1', 'score': 12.34}, {'connected_gene': 'GPATCH2L', 'score': 11.91}, {'connected_gene': 'VIPAS39', 'score': 11.12}, {'connected_gene': 'RPL22P2', 'score': 10.27}, {'connected_gene': 'LINC01629', 'score': 5.31}, {'connected_gene': 'GC14P077023', 'score': 0.37}, {'connected_gene': 'GC14M076985', 'score': 0.34}]
chr14	GH14I077096	77096274	77100655	2.3	[{'connected_gene': 'CIPC', 'score': 556.91}, {'connected_gene': 'ENSG00000259164', 'score': 550.77}, {'connected_gene': 'GC14M077096', 'score': 550.77}, {'connected_gene': 'SNW1', 'score': 36.28}, {'connected_gene': 'VIPAS39', 'score': 35.65}, {'connected_gene': 'ZMYND19P1', 'score': 25.8}, {'connected_gene': 'RPL22P2', 'score': 25.54}, {'connected_gene': 'ALKBH1', 'score': 24.46}, {'connected_gene': 'IRF2BPL', 'score': 23.56}, {'connected_gene': 'GPATCH2L', 'score': 22.56}, {'connected_gene': 'RPL21P10', 'score': 11.91}, {'connected_gene': 'POMT2', 'score': 10.9}, {'connected_gene': 'LINC02288', 'score': 4.73}, {'connected_gene': 'PIR36428', 'score': 0.39}]
chr14	GH14I077021	77021582	77047176	3.06	[{'connected_gene': 'IRF2BPL', 'score': 577.43}, {'connected_gene': 'LOC105370579', 'score': 550.77}, {'connected_gene': 'SNW1', 'score': 32.59}, {'connected_gene': 'ALKBH1', 'score': 32.3}, {'connected_gene': 'RPL22P2', 'score': 31.25}, {'connected_gene': 'VIPAS39', 'score': 29.63}, {'connected_gene': 'POMT2', 'score': 29.33}, {'connected_gene': 'ZMYND19P1', 'score': 27.18}, {'connected_gene': 'GPATCH2L', 'score': 22.24}, {'connected_gene': 'RPL21P10', 'score': 20.39}, {'connected_gene': 'CIPC', 'score': 13.7}, {'connected_gene': 'ENSG00000259081', 'score': 11.08}, {'connected_gene': 'LINC02288', 'score': 8.25}, {'connected_gene': 'TMEM63C', 'score': 1.88}, {'connected_gene': 'VASH1', 'score': 1.72}, {'connected_gene': 'TMED8', 'score': 1.21}, {'connected_gene': 'LRRC74A', 'score': 1.11}, {'connected_gene': 'GC14P077024', 'score': 0.44}, {'connected_gene': 'ENSG00000273729', 'score': 0.44}, {'connected_gene': 'GC14P077023', 'score': 0.39}]
chr14	GH14I077301	77301832	77308334	1.39	[{'connected_gene': 'VIPAS39', 'score': 24.31}, {'connected_gene': 'IRF2BPL', 'score': 16.36}, {'connected_gene': 'GSTZ1', 'score': 15.6}, {'connected_gene': 'ALKBH1', 'score': 13.09}, {'connected_gene': 'NGB', 'score': 11.62}, {'connected_gene': 'MIR1260A', 'score': 11.22}, {'connected_gene': 'ZDHHC22', 'score': 10.98}, {'connected_gene': 'ENSG00000201384', 'score': 10.97}, {'connected_gene': 'SAMD15', 'score': 10.85}, {'connected_gene': 'TMED8', 'score': 10.85}, {'connected_gene': 'AHSA1', 'score': 10.53}, {'connected_gene': 'SNW1', 'score': 10.45}, {'connected_gene': 'RPL21P10', 'score': 10.32}, {'connected_gene': 'CIPC', 'score': 9.66}, {'connected_gene': 'POMT2', 'score': 6.49}, {'connected_gene': 'SPTLC2', 'score': 4.43}, {'connected_gene': 'PIR44060', 'score': 0.77}]
chr14	GH14I076767	76767379	76769592	1.23	[{'connected_gene': 'VIPAS39', 'score': 47.73}, {'connected_gene': 'SNW1', 'score': 37.99}, {'connected_gene': 'ALKBH1', 'score': 37.6}, {'connected_gene': 'ZMYND19P1', 'score': 36.1}, {'connected_gene': 'GPATCH2L', 'score': 33.25}, {'connected_gene': 'RPL22P2', 'score': 32.55}, {'connected_gene': 'IRF2BPL', 'score': 24.3}, {'connected_gene': 'RPL21P10', 'score': 20.19}, {'connected_gene': 'POMT2', 'score': 19.55}, {'connected_gene': 'ENSG00000259081', 'score': 16.72}, {'connected_gene': 'VASH1', 'score': 11.56}, {'connected_gene': 'IFT43', 'score': 10.29}, {'connected_gene': 'NGB', 'score': 9.8}, {'connected_gene': 'ENSG00000258610', 'score': 0.39}]
chr14	GH14I077157	77157961	77159105	1.18	[{'connected_gene': 'TMEM63C', 'score': 17.29}, {'connected_gene': 'POMT2', 'score': 13.28}, {'connected_gene': 'ENSG00000201384', 'score': 11.54}, {'connected_gene': 'NGB', 'score': 10.8}, {'connected_gene': 'NOXRED1', 'score': 10.08}, {'connected_gene': 'SNW1', 'score': 9.96}, {'connected_gene': 'ZDHHC22', 'score': 0.39}, {'connected_gene': 'FAM204DP', 'score': 0.37}, {'connected_gene': 'ENSG00000259164', 'score': 0.21}]
chr14	GH14I077799	77799518	77801050	2.04	[{'connected_gene': 'ADCK1', 'score': 556.76}, {'connected_gene': 'RPL21P10', 'score': 23.15}, {'connected_gene': 'C14orf178', 'score': 19.6}, {'connected_gene': 'ZMYND19P1', 'score': 12.9}, {'connected_gene': 'IRF2BPL', 'score': 11.12}, {'connected_gene': 'ALKBH1', 'score': 11.01}, {'connected_gene': 'SNW1', 'score': 9.92}, {'connected_gene': 'RPL22P2', 'score': 9.86}, {'connected_gene': 'ENSG00000199440', 'score': 0.34}, {'connected_gene': 'GC14M077822', 'score': 0.34}]
chr14	GH14I077663	77663253	77664152	1.01	[{'connected_gene': 'ADCK1', 'score': 37.68}, {'connected_gene': 'C14orf178', 'score': 13.44}, {'connected_gene': 'SLIRP', 'score': 8.57}, {'connected_gene': 'SNW1', 'score': 7.94}, {'connected_gene': 'RPL21P10', 'score': 5.46}, {'connected_gene': 'GC14P077671', 'score': 0.44}, {'connected_gene': 'COX6CP11', 'score': 0.39}]
chr14	GH14I077729	77729867	77731913	0.38	[{'connected_gene': 'ADCK1', 'score': 38.52}, {'connected_gene': 'C14orf178', 'score': 26.47}, {'connected_gene': 'SNW1', 'score': 11.72}, {'connected_gene': 'SLIRP', 'score': 11.32}, {'connected_gene': 'ALKBH1', 'score': 11.32}, {'connected_gene': 'RPL21P10', 'score': 6.58}]
chr14	GH14I077660	77660732	77661380	0.43	[{'connected_gene': 'ADCK1', 'score': 37.67}, {'connected_gene': 'C14orf178', 'score': 20.31}, {'connected_gene': 'SNW1', 'score': 5.84}, {'connected_gene': 'COX6CP11', 'score': 0.44}, {'connected_gene': 'GC14P077671', 'score': 0.39}]
chr14	GH14I077763	77763418	77763567	0.2	[{'connected_gene': 'ADCK1', 'score': 11.71}, {'connected_gene': 'C14orf178', 'score': 5.58}, {'connected_gene': 'SNW1', 'score': 0.77}]
chr14	GH14I077790	77790562	77791828	0.54	[{'connected_gene': 'RPL21P10', 'score': 16.91}, {'connected_gene': 'C14orf178', 'score': 13.66}, {'connected_gene': 'ADCK1', 'score': 0.44}, {'connected_gene': 'SNW1', 'score': 0.31}]
chr14	GH14I077795	77795522	77796982	0.85	[{'connected_gene': 'C14orf178', 'score': 17.58}, {'connected_gene': 'SLIRP', 'score': 6.5}, {'connected_gene': 'ADCK1', 'score': 5.15}, {'connected_gene': 'SNW1', 'score': 0.28}]
chr14	GH14I077768	77768601	77769000	0.2	[{'connected_gene': 'C14orf178', 'score': 21.15}, {'connected_gene': 'ADCK1', 'score': 13.07}, {'connected_gene': 'SNW1', 'score': 0.44}]
chr14	GH14I077759	77759690	77762187	2	[{'connected_gene': 'C14orf178', 'score': 571.48}, {'connected_gene': 'SNW1', 'score': 559.04}, {'connected_gene': 'RPL21P10', 'score': 17.0}, {'connected_gene': 'ADCK1', 'score': 11.71}, {'connected_gene': 'SLIRP', 'score': 0.23}]
chr14	GH14I078007	78007086	78007497	0.52	[{'connected_gene': 'SNW1', 'score': 2.71}, {'connected_gene': 'SPTLC2', 'score': 1.4}, {'connected_gene': 'NRXN3', 'score': 0.39}, {'connected_gene': 'LOC105370581', 'score': 0.26}, {'connected_gene': 'GC14M077970', 'score': 0.1}]
chr14	GH14I077737	77737860	77739504	0.38	[{'connected_gene': 'SNW1', 'score': 0.34}, {'connected_gene': 'C14orf178', 'score': 0.34}, {'connected_gene': 'SLIRP', 'score': 0.29}]
chr14	GH14I077728	77728501	77728737	0.34	[{'connected_gene': 'SNW1', 'score': 11.72}, {'connected_gene': 'C14orf178', 'score': 11.72}, {'connected_gene': 'SLIRP', 'score': 0.34}]
chr14	GH14I076949	76949601	76963502	2.35	[{'connected_gene': 'LINC01629', 'score': 69.23}, {'connected_gene': 'IRF2BPL', 'score': 24.74}, {'connected_gene': 'SNW1', 'score': 22.81}, {'connected_gene': 'ALKBH1', 'score': 15.29}, {'connected_gene': 'ZMYND19P1', 'score': 13.39}, {'connected_gene': 'RPL22P2', 'score': 13.22}, {'connected_gene': 'VIPAS39', 'score': 13.22}, {'connected_gene': 'VASH1', 'score': 11.45}, {'connected_gene': 'ENSG00000243225', 'score': 11.42}, {'connected_gene': 'LINC02288', 'score': 11.11}, {'connected_gene': 'ENSG00000259081', 'score': 11.08}, {'connected_gene': 'RPL21P10', 'score': 10.47}, {'connected_gene': 'GPATCH2L', 'score': 10.22}, {'connected_gene': 'ANGEL1', 'score': 4.47}, {'connected_gene': 'LRRC74A', 'score': 3.89}, {'connected_gene': 'ENSG00000259058', 'score': 0.29}]
chr14	GH14I076936	76936261	76942850	1.32	[{'connected_gene': 'ENSG00000243225', 'score': 14.38}, {'connected_gene': 'IRF2BPL', 'score': 12.4}, {'connected_gene': 'LINC01629', 'score': 11.89}, {'connected_gene': 'SNW1', 'score': 7.86}, {'connected_gene': 'ENSG00000259058', 'score': 0.39}]