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
ENST00000270792	[[26605666, 26606694], [26607255, 26607423], [26607548, 26608007]]	[[26606646, 26606694], [26607255, 26607423], [26607548, 26607614]]
ENST00000319041	[[26606612, 26606694], [26607255, 26607941]]	[[26606646, 26606694], [26607255, 26607474]]
NM_031286	[[26606212, 26606694], [26607255, 26607423], [26607548, 26608013]]	[[26606646, 26606694], [26607255, 26607423], [26607548, 26607614]]

Promoter

Chrom	Start	End	Description
chr1	26605618	26605631	CAGE_peak_5_at_SH3BGRL3_5end
chr1	26606550	26606596	CAGE_peak_1_at_SH3BGRL3_5end
chr1	26606608	26606619	CAGE_peak_2_at_SH3BGRL3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I026305	26305555	26309601	2.03	[{'connected_gene': 'UBXN11', 'score': 560.68}, {'connected_gene': 'ARID1A', 'score': 35.41}, {'connected_gene': 'HMGN2', 'score': 28.22}, {'connected_gene': 'LOC101928324', 'score': 18.68}, {'connected_gene': 'CD52', 'score': 18.46}, {'connected_gene': 'RPL17P9', 'score': 12.0}, {'connected_gene': 'NPM1P39', 'score': 11.79}, {'connected_gene': 'CEP85', 'score': 10.89}, {'connected_gene': 'FAM110D', 'score': 7.58}, {'connected_gene': 'CNKSR1', 'score': 6.51}, {'connected_gene': 'SH3BGRL3', 'score': 0.31}]
chr1	GH01I026274	26274321	26293466	2.81	[{'connected_gene': 'SH3BGRL3', 'score': 553.26}, {'connected_gene': 'HMGN2', 'score': 63.5}, {'connected_gene': 'ARID1A', 'score': 57.37}, {'connected_gene': 'CD52', 'score': 38.95}, {'connected_gene': 'LOC101928324', 'score': 30.09}, {'connected_gene': 'NPM1P39', 'score': 29.55}, {'connected_gene': 'UBXN11', 'score': 28.89}, {'connected_gene': 'CEP85', 'score': 23.48}, {'connected_gene': 'GPN2', 'score': 21.79}, {'connected_gene': 'LIN28A', 'score': 21.36}, {'connected_gene': 'TRIM63', 'score': 18.25}, {'connected_gene': 'FAM110D', 'score': 17.18}, {'connected_gene': 'SELENON', 'score': 11.96}, {'connected_gene': 'CRYBG2', 'score': 11.09}, {'connected_gene': 'CNKSR1', 'score': 11.05}, {'connected_gene': 'RPS6KA1', 'score': 10.99}, {'connected_gene': 'LOC101928728', 'score': 10.8}, {'connected_gene': 'RPL17P9', 'score': 10.77}, {'connected_gene': 'RSRP1', 'score': 10.43}, {'connected_gene': 'ZNF593', 'score': 9.87}, {'connected_gene': 'ENSG00000236782', 'score': 9.87}, {'connected_gene': 'MTFR1L', 'score': 3.37}, {'connected_gene': 'PDIK1L', 'score': 2.4}, {'connected_gene': 'PIGV', 'score': 1.51}, {'connected_gene': 'PIR48459', 'score': 0.44}]
chr1	GH01I026618	26618391	26622400	1.9	[{'connected_gene': 'ARID1A', 'score': 160.87}, {'connected_gene': 'HMGN2', 'score': 112.32}, {'connected_gene': 'ACTG1P20', 'score': 94.94}, {'connected_gene': 'GPN2', 'score': 64.9}, {'connected_gene': 'ZNF593', 'score': 40.06}, {'connected_gene': 'GPATCH3', 'score': 31.53}, {'connected_gene': 'AHDC1', 'score': 30.24}, {'connected_gene': 'RPL17P9', 'score': 29.98}, {'connected_gene': 'LOC101928324', 'score': 29.95}, {'connected_gene': 'NPM1P39', 'score': 28.09}, {'connected_gene': 'RPS6KA1', 'score': 21.2}, {'connected_gene': 'SELENON', 'score': 21.15}, {'connected_gene': 'WASF2', 'score': 20.32}, {'connected_gene': 'PIGV', 'score': 14.27}, {'connected_gene': 'TMEM222', 'score': 13.4}, {'connected_gene': 'MAP3K6', 'score': 12.23}, {'connected_gene': 'SH3BGRL3', 'score': 11.97}, {'connected_gene': 'SFN', 'score': 10.86}, {'connected_gene': 'MIR1976', 'score': 10.46}, {'connected_gene': 'NUDC', 'score': 10.05}, {'connected_gene': 'UBXN11', 'score': 9.6}, {'connected_gene': 'ZDHHC18', 'score': 3.73}, {'connected_gene': 'CATSPER4', 'score': 1.58}, {'connected_gene': 'ENSG00000229247', 'score': 0.34}, {'connected_gene': 'GC01M026595', 'score': 0.31}, {'connected_gene': 'ENSG00000252802', 'score': 0.31}]
chr1	GH01I026898	26898826	26901275	2.08	[{'connected_gene': 'GPATCH3', 'score': 550.77}, {'connected_gene': 'NUDC', 'score': 550.77}, {'connected_gene': 'ARID1A', 'score': 25.64}, {'connected_gene': 'HMGN2', 'score': 24.31}, {'connected_gene': 'ACTG1P20', 'score': 15.43}, {'connected_gene': 'PIGV', 'score': 13.66}, {'connected_gene': 'ZNF593', 'score': 13.55}, {'connected_gene': 'FAM76A', 'score': 13.09}, {'connected_gene': 'NPM1P39', 'score': 11.5}, {'connected_gene': 'MAP3K6', 'score': 10.99}, {'connected_gene': 'SH3BGRL3', 'score': 10.49}, {'connected_gene': 'WASF2', 'score': 10.4}, {'connected_gene': 'ENSG00000231344', 'score': 10.35}, {'connected_gene': 'RPS6KA1', 'score': 9.97}, {'connected_gene': 'STMN1', 'score': 9.93}, {'connected_gene': 'PIR54437', 'score': 0.77}]
chr1	GH01I025817	25817688	25822374	2.27	[{'connected_gene': 'MTFR1L', 'score': 593.51}, {'connected_gene': 'SELENON', 'score': 30.21}, {'connected_gene': 'ARID1A', 'score': 18.63}, {'connected_gene': 'SYF2', 'score': 17.96}, {'connected_gene': 'HMGN2', 'score': 16.32}, {'connected_gene': 'PIGV', 'score': 13.67}, {'connected_gene': 'SH3BGRL3', 'score': 10.51}, {'connected_gene': 'LOC101928728', 'score': 10.47}, {'connected_gene': 'ENSG00000261349', 'score': 10.4}, {'connected_gene': 'RPS6KA1', 'score': 9.94}, {'connected_gene': 'RUNX3', 'score': 9.85}, {'connected_gene': 'LOC101928324', 'score': 9.73}, {'connected_gene': 'LOC646471', 'score': 0.77}, {'connected_gene': 'ENSG00000255054', 'score': 0.44}]
chr1	GH01I026607	26607243	26607491	0.71	[{'connected_gene': 'PIGV', 'score': 16.03}, {'connected_gene': 'ARID1A', 'score': 11.4}, {'connected_gene': 'MIR1976', 'score': 11.36}, {'connected_gene': 'RPS6KA1', 'score': 11.31}, {'connected_gene': 'ENSG00000226698', 'score': 11.26}, {'connected_gene': 'SFN', 'score': 10.9}, {'connected_gene': 'GPATCH3', 'score': 9.97}, {'connected_gene': 'NUDC', 'score': 9.97}, {'connected_gene': 'UBXN11', 'score': 9.34}, {'connected_gene': 'SH3BGRL3', 'score': 2.0}, {'connected_gene': 'GC01M026595', 'score': 0.39}, {'connected_gene': 'ENSG00000252802', 'score': 0.39}, {'connected_gene': 'ENSG00000229247', 'score': 0.29}]
chr1	GH01I026110	26110263	26114503	2.27	[{'connected_gene': 'PDIK1L', 'score': 550.77}, {'connected_gene': 'TRIM63', 'score': 26.95}, {'connected_gene': 'GPN2', 'score': 23.81}, {'connected_gene': 'GPATCH3', 'score': 20.79}, {'connected_gene': 'ARID1A', 'score': 19.69}, {'connected_gene': 'LOC101928324', 'score': 13.16}, {'connected_gene': 'HMGN2', 'score': 11.86}, {'connected_gene': 'LOC101928728', 'score': 11.69}, {'connected_gene': 'SH3BGRL3', 'score': 10.57}, {'connected_gene': 'ENSG00000261349', 'score': 10.56}, {'connected_gene': 'RPS6KA1', 'score': 9.96}, {'connected_gene': 'UBXN11', 'score': 5.54}, {'connected_gene': 'ZNF593', 'score': 5.37}, {'connected_gene': 'LOC105376886', 'score': 0.37}]
chr1	GH01I026313	26313987	26322352	2.28	[{'connected_gene': 'CD52', 'score': 570.25}, {'connected_gene': 'UBXN11', 'score': 568.52}, {'connected_gene': 'SH3BGRL3', 'score': 17.54}, {'connected_gene': 'ZNF683', 'score': 11.46}, {'connected_gene': 'CRYBG2', 'score': 11.25}, {'connected_gene': 'LIN28A', 'score': 11.0}, {'connected_gene': 'CEP85', 'score': 10.94}, {'connected_gene': 'ZNF593', 'score': 10.4}, {'connected_gene': 'ENSG00000236782', 'score': 10.4}, {'connected_gene': 'FAM110D', 'score': 9.78}, {'connected_gene': 'LOC101928324', 'score': 9.4}, {'connected_gene': 'TRIM63', 'score': 8.39}, {'connected_gene': 'CNKSR1', 'score': 8.01}, {'connected_gene': 'RPS6KA1', 'score': 2.64}, {'connected_gene': 'MTFR1L', 'score': 1.57}, {'connected_gene': 'HMGN2', 'score': 1.29}]
chr1	GH01I026302	26302402	26303835	0.69	[{'connected_gene': 'CD52', 'score': 14.17}, {'connected_gene': 'UBXN11', 'score': 0.37}, {'connected_gene': 'SH3BGRL3', 'score': 0.34}]
chr1	GH01I026297	26297872	26298965	0.72	[{'connected_gene': 'CD52', 'score': 0.37}, {'connected_gene': 'UBXN11', 'score': 0.37}, {'connected_gene': 'SH3BGRL3', 'score': 0.37}]
chr1	GH01I026300	26300585	26300958	0.31	[{'connected_gene': 'CD52', 'score': 12.9}, {'connected_gene': 'CEP85', 'score': 7.23}, {'connected_gene': 'UBXN11', 'score': 0.37}, {'connected_gene': 'SH3BGRL3', 'score': 0.34}]
chr1	GH01I026580	26580850	26581524	1.44	[{'connected_gene': 'MIR1976', 'score': 11.98}, {'connected_gene': 'RPS6KA1', 'score': 11.9}, {'connected_gene': 'ENSG00000226698', 'score': 10.58}, {'connected_gene': 'GPATCH3', 'score': 9.8}, {'connected_gene': 'NUDC', 'score': 9.8}, {'connected_gene': 'UBXN11', 'score': 9.49}, {'connected_gene': 'PIGV', 'score': 3.95}, {'connected_gene': 'SH3BGRL3', 'score': 1.56}, {'connected_gene': 'RN7SL679P', 'score': 0.39}]
chr1	GH01I026581	26581920	26583983	1.41	[{'connected_gene': 'MIR1976', 'score': 11.98}, {'connected_gene': 'RPS6KA1', 'score': 11.9}, {'connected_gene': 'SFN', 'score': 10.86}, {'connected_gene': 'ENSG00000226698', 'score': 10.7}, {'connected_gene': 'UBXN11', 'score': 10.24}, {'connected_gene': 'GPATCH3', 'score': 10.18}, {'connected_gene': 'NUDC', 'score': 10.18}, {'connected_gene': 'PIGV', 'score': 4.14}, {'connected_gene': 'SH3BGRL3', 'score': 1.47}, {'connected_gene': 'RN7SL679P', 'score': 0.39}]