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
ENST00000343516	[[2227183, 2228647], [2228902, 2229326], [2229593, 2231600], [2231791, 2231930], [2233646, 2233748], [2233831, 2233942], [2234777, 2234869], [2234951, 2235036], [2235111, 2235200], [2235307, 2235409], [2236707, 2236825], [2236978, 2237073], [2237166, 2237275], [2237353, 2237462], [2239027, 2239158], [2239238, 2239334], [2239419, 2239565], [2240073, 2240171], [2240307, 2240359], [2246339, 2246526]]	[[2228550, 2228647], [2228902, 2229326], [2229593, 2231600], [2231791, 2231930], [2233646, 2233748], [2233831, 2233942], [2234777, 2234869], [2234951, 2235036], [2235111, 2235200], [2235307, 2235409], [2236707, 2236825], [2236978, 2237073], [2237166, 2237275], [2237353, 2237462], [2239027, 2239158], [2239238, 2239334], [2239419, 2239565], [2240073, 2240171], [2240307, 2240359], [2246339, 2246433]]
ENST00000564289	[[2231899, 2231930], [2234777, 2234869], [2234951, 2235021]]	None
ENST00000562055	[[2238897, 2239158], [2239238, 2239334], [2239419, 2239497]]	None
NM_020764	[[2227183, 2228647], [2228902, 2229326], [2229593, 2231600], [2231791, 2231930], [2233646, 2233748], [2233831, 2233942], [2234777, 2234869], [2234951, 2235036], [2235111, 2235200], [2235307, 2235409], [2236707, 2236825], [2236978, 2237073], [2237166, 2237275], [2237353, 2237462], [2239027, 2239158], [2239238, 2239334], [2239419, 2239565], [2240073, 2240171], [2240307, 2240359], [2246339, 2246465]]	[[2228550, 2228647], [2228902, 2229326], [2229593, 2231600], [2231791, 2231930], [2233646, 2233748], [2233831, 2233942], [2234777, 2234869], [2234951, 2235036], [2235111, 2235200], [2235307, 2235409], [2236707, 2236825], [2236978, 2237073], [2237166, 2237275], [2237353, 2237462], [2239027, 2239158], [2239238, 2239334], [2239419, 2239565], [2240073, 2240171], [2240307, 2240359], [2246339, 2246433]]

Promoter

Chrom	Start	End	Description
chr16	2237401	2237415	CAGE_peak_5_at_CASKIN1_5end
chr16	2237422	2237431	CAGE_peak_8_at_CASKIN1_5end
chr16	2237434	2237439	CAGE_peak_11_at_CASKIN1_5end
chr16	2246436	2246502	CAGE_peak_3_at_CASKIN1_5end
chr16	2246560	2246614	CAGE_peak_1_at_CASKIN1_5end
chr16	2246616	2246633	CAGE_peak_4_at_CASKIN1_5end
chr16	2246717	2246789	CAGE_peak_2_at_CASKIN1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I002147	2147099	2164481	2.81	[{'connected_gene': 'TRAF7', 'score': 594.72}, {'connected_gene': 'SNORD60', 'score': 573.7}, {'connected_gene': 'SNHG19', 'score': 561.41}, {'connected_gene': 'GC16M002158', 'score': 550.77}, {'connected_gene': 'GC16M002156', 'score': 550.77}, {'connected_gene': 'ENSG00000281010', 'score': 550.77}, {'connected_gene': 'RAB26', 'score': 550.39}, {'connected_gene': 'ENSG00000261505', 'score': 76.13}, {'connected_gene': 'ENSG00000260051', 'score': 72.02}, {'connected_gene': 'SRRM2', 'score': 67.18}, {'connected_gene': 'CRAMP1', 'score': 63.09}, {'connected_gene': 'TELO2', 'score': 55.81}, {'connected_gene': 'LOC105371055', 'score': 51.9}, {'connected_gene': 'ENSG00000255513', 'score': 51.88}, {'connected_gene': 'E4F1', 'score': 49.08}, {'connected_gene': 'SNORA64', 'score': 46.29}, {'connected_gene': 'NUBP2', 'score': 45.05}, {'connected_gene': 'UNKL', 'score': 44.96}, {'connected_gene': 'TSC2', 'score': 44.72}, {'connected_gene': 'TBL3', 'score': 44.31}, {'connected_gene': 'ERVK13-1', 'score': 43.38}, {'connected_gene': 'THOC6', 'score': 43.07}, {'connected_gene': 'ENSG00000260954', 'score': 39.95}, {'connected_gene': 'ZNF598', 'score': 38.94}, {'connected_gene': 'SPSB3', 'score': 37.33}, {'connected_gene': 'ZNF213-AS1', 'score': 33.1}, {'connected_gene': 'AMDHD2', 'score': 32.24}, {'connected_gene': 'UBE2I', 'score': 29.22}, {'connected_gene': 'MLST8', 'score': 23.03}, {'connected_gene': 'CCDC154', 'score': 14.18}, {'connected_gene': 'CASKIN1', 'score': 12.92}, {'connected_gene': 'IFT140', 'score': 12.6}, {'connected_gene': 'EME2', 'score': 12.59}, {'connected_gene': 'ECI1', 'score': 12.16}, {'connected_gene': 'ENSG00000261207', 'score': 11.44}, {'connected_gene': 'RNF151', 'score': 11.38}, {'connected_gene': 'LOC106660606', 'score': 11.15}, {'connected_gene': 'ENSG00000260447', 'score': 10.79}, {'connected_gene': 'NME3', 'score': 10.68}, {'connected_gene': 'CLCN7', 'score': 10.64}, {'connected_gene': 'LOC652276', 'score': 10.3}, {'connected_gene': 'ENSG00000269937', 'score': 10.03}, {'connected_gene': 'PDPK2P', 'score': 9.78}, {'connected_gene': 'ENSG00000261123', 'score': 7.34}, {'connected_gene': 'PGP', 'score': 6.88}, {'connected_gene': 'NPW', 'score': 2.64}, {'connected_gene': 'GC16P002210', 'score': 0.34}]
chr16	GH16I002196	2196200	2197001	1.34	[{'connected_gene': 'CASKIN1', 'score': 550.77}, {'connected_gene': 'MLST8', 'score': 0.44}]
chr16	GH16I002194	2194980	2195149	0.83	[{'connected_gene': 'CASKIN1', 'score': 550.77}, {'connected_gene': 'GC16M002178', 'score': 0.77}]
chr16	GH16I002511	2511100	2521805	2.7	[{'connected_gene': 'AMDHD2', 'score': 550.77}, {'connected_gene': 'ENSG00000279520', 'score': 550.77}, {'connected_gene': 'ATP6V0C', 'score': 550.77}, {'connected_gene': 'ZNF75A', 'score': 35.06}, {'connected_gene': 'TBC1D24', 'score': 26.95}, {'connected_gene': 'IFT140', 'score': 25.94}, {'connected_gene': 'ZNF213-AS1', 'score': 25.5}, {'connected_gene': 'CRAMP1', 'score': 23.19}, {'connected_gene': 'ERVK13-1', 'score': 21.32}, {'connected_gene': 'SNHG19', 'score': 18.29}, {'connected_gene': 'TIGD7', 'score': 15.24}, {'connected_gene': 'NME3', 'score': 14.57}, {'connected_gene': 'CLUAP1', 'score': 14.04}, {'connected_gene': 'ENSG00000260954', 'score': 13.86}, {'connected_gene': 'ZSCAN32', 'score': 13.19}, {'connected_gene': 'ZNF263', 'score': 13.03}, {'connected_gene': 'NUBP2', 'score': 12.97}, {'connected_gene': 'ZNF174', 'score': 12.94}, {'connected_gene': 'FLYWCH2', 'score': 12.83}, {'connected_gene': 'SRRM2', 'score': 12.78}, {'connected_gene': 'MTND1P8', 'score': 12.65}, {'connected_gene': 'MTCO1P28', 'score': 12.21}, {'connected_gene': 'LOC106660606', 'score': 12.21}, {'connected_gene': 'TSC2', 'score': 11.88}, {'connected_gene': 'ENSG00000255513', 'score': 11.66}, {'connected_gene': 'MTRNR2L4', 'score': 11.31}, {'connected_gene': 'E4F1', 'score': 11.1}, {'connected_gene': 'LOC105371055', 'score': 10.73}, {'connected_gene': 'SNORD60', 'score': 10.66}, {'connected_gene': 'SNORA64', 'score': 9.98}, {'connected_gene': 'ZNF598', 'score': 9.9}, {'connected_gene': 'ZNF205', 'score': 9.81}, {'connected_gene': 'PDPK1', 'score': 2.86}, {'connected_gene': 'CASKIN1', 'score': 2.51}, {'connected_gene': 'PKD1', 'score': 1.67}, {'connected_gene': 'RAB26', 'score': 1.24}, {'connected_gene': 'PIR61539', 'score': 0.77}, {'connected_gene': 'PIR38127', 'score': 0.77}, {'connected_gene': 'PIR51853', 'score': 0.77}, {'connected_gene': 'PIR38427', 'score': 0.77}, {'connected_gene': 'GC16P002984', 'score': 0.77}, {'connected_gene': 'GC16P002519', 'score': 0.77}, {'connected_gene': 'PIR35595', 'score': 0.77}, {'connected_gene': 'PIR33103', 'score': 0.77}, {'connected_gene': 'PIR52118', 'score': 0.77}, {'connected_gene': 'ENSG00000259784', 'score': 0.77}, {'connected_gene': 'ENSG00000260272', 'score': 0.34}]
chr16	GH16I002179	2178880	2179049	0.85	[{'connected_gene': 'GC16P002210', 'score': 550.77}, {'connected_gene': 'GC16M002178', 'score': 0.39}, {'connected_gene': 'CASKIN1', 'score': 0.37}, {'connected_gene': 'TRAF7', 'score': 0.34}]
chr16	GH16I002178	2178600	2178789	0.69	[{'connected_gene': 'GC16P002210', 'score': 550.77}, {'connected_gene': 'GC16M002178', 'score': 0.39}, {'connected_gene': 'CASKIN1', 'score': 0.37}, {'connected_gene': 'TRAF7', 'score': 0.34}]