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
ENST00000216465 [[77787226, 77787526], [77791212, 77791264], [77793180, 77793248], [77793814, 77793895], [77794254, 77794380], [77795465, 77795544], [77796097, 77796150], [77796652, 77796702], [77797411, 77797940]] [[77787511, 77787526], [77791212, 77791264], [77793180, 77793248], [77793814, 77793895], [77794254, 77794380], [77795465, 77795544], [77796097, 77796150], [77796652, 77796702], [77797411, 77797538]]
ENST00000361389 [[77787338, 77787526], [77788889, 77789075], [77791212, 77791264], [77793180, 77793248], [77793814, 77793895], [77794254, 77794380], [77795465, 77795544], [77796097, 77796150], [77796652, 77796702], [77797411, 77797538]] [[77793844, 77793895], [77794254, 77794380], [77795465, 77795544], [77796097, 77796150], [77796652, 77796702], [77797411, 77797538]]
ENST00000553838 [[77787341, 77787526], [77791212, 77791264], [77793180, 77793248], [77793814, 77794641]] None
ENST00000554279 [[77787357, 77787526], [77791212, 77791264], [77793180, 77793248], [77793814, 77793853], [77794254, 77794380], [77795465, 77795544], [77796097, 77796150], [77796652, 77796702], [77797411, 77797570]] [[77787511, 77787526], [77791212, 77791264], [77793180, 77793248], [77793814, 77793853], [77794254, 77794380], [77795465, 77795544], [77796097, 77796150], [77796652, 77796702], [77797411, 77797538]]
ENST00000557639 [[77787362, 77787526], [77793180, 77793248], [77793814, 77793895], [77794254, 77794380], [77795465, 77795544], [77796097, 77796150], [77796652, 77796702], [77797411, 77797663]] [[77793844, 77793895], [77794254, 77794380], [77795465, 77795544], [77796097, 77796150], [77796652, 77796702], [77797411, 77797538]]
ENST00000349555 [[77787367, 77787526], [77791212, 77791264], [77793180, 77793248], [77793814, 77793895], [77795465, 77795544], [77796097, 77796150], [77796652, 77796702], [77797411, 77797736]] [[77787511, 77787526], [77791212, 77791264], [77793180, 77793248], [77793814, 77793895], [77795465, 77795544], [77796097, 77796150], [77796652, 77796702], [77797411, 77797538]]
ENST00000553770 [[77787374, 77787526], [77791212, 77791623]] None
ENST00000553431 [[77787380, 77787526], [77791212, 77791264], [77793180, 77793248], [77793814, 77793895], [77794254, 77794380], [77795465, 77795840]] None
ENST00000556627 [[77787380, 77787526], [77791212, 77791264], [77793180, 77793248], [77794254, 77794380], [77795465, 77795544], [77796097, 77796150], [77796652, 77796702], [77797411, 77797756]] [[77787511, 77787526], [77791212, 77791264], [77793180, 77793248], [77794254, 77794380], [77795465, 77795544], [77796097, 77796150], [77796652, 77796702], [77797411, 77797538]]
ENST00000557053 [[77787420, 77787526], [77793180, 77793248], [77793814, 77793895], [77795465, 77795544], [77796097, 77796150], [77796652, 77796702], [77797411, 77797554]] [[77793844, 77793895], [77795465, 77795544], [77796097, 77796150], [77796652, 77796702], [77797411, 77797538]]
ENST00000553268 [[77787436, 77787526], [77791212, 77791264], [77793180, 77793589]] None
ENST00000554846 [[77787705, 77787906], [77788889, 77789075], [77791212, 77791264], [77793180, 77793248], [77793814, 77793895], [77794254, 77794380]] [[77793844, 77793895], [77794254, 77794380]]
ENST00000393734 [[77787705, 77787906], [77788889, 77789075], [77791212, 77791264], [77793180, 77793248], [77793814, 77793895], [77794254, 77794380], [77795465, 77795544], [77796097, 77796150], [77796652, 77796702], [77797411, 77797939]] [[77793844, 77793895], [77794254, 77794380], [77795465, 77795544], [77796097, 77796150], [77796652, 77796702], [77797411, 77797538]]
ENST00000556914 [[77787811, 77787906], [77791212, 77791264], [77793180, 77793248], [77793814, 77794129]] None
ENST00000555093 [[77789064, 77793248], [77793814, 77794380], [77795465, 77795544], [77796097, 77796150], [77796652, 77796702], [77797411, 77797835]] None
ENST00000553586 [[77790911, 77790965], [77791212, 77791264], [77793180, 77793248], [77793814, 77793895], [77794254, 77794380], [77795465, 77795544], [77796097, 77796150], [77796652, 77796702], [77797411, 77797827]] [[77790947, 77790965], [77791212, 77791264], [77793180, 77793248], [77793814, 77793895], [77794254, 77794380], [77795465, 77795544], [77796097, 77796150], [77796652, 77796702], [77797411, 77797538]]
ENST00000555583 [[77790912, 77791264], [77793180, 77793248], [77793814, 77793895], [77794254, 77794317]] [[77793844, 77793895], [77794254, 77794317]]
ENST00000554381 [[77794332, 77794380], [77795465, 77795544], [77796097, 77796150], [77796573, 77796702], [77797411, 77797831]] [[77794332, 77794380], [77795465, 77795544], [77796097, 77796150], [77796573, 77796606]]
ENST00000555208 [[77794782, 77796702], [77797411, 77797829]] None
NM_145871 [[77787229, 77787526], [77791212, 77791264], [77793180, 77793248], [77793814, 77793895], [77795465, 77795544], [77796097, 77796150], [77796652, 77796702], [77797411, 77797940]] [[77787511, 77787526], [77791212, 77791264], [77793180, 77793248], [77793814, 77793895], [77795465, 77795544], [77796097, 77796150], [77796652, 77796702], [77797411, 77797538]]
NM_145870 [[77787229, 77787526], [77791212, 77791264], [77793180, 77793248], [77793814, 77793895], [77794254, 77794380], [77795465, 77795544], [77796097, 77796150], [77796652, 77796702], [77797411, 77797940]] [[77787511, 77787526], [77791212, 77791264], [77793180, 77793248], [77793814, 77793895], [77794254, 77794380], [77795465, 77795544], [77796097, 77796150], [77796652, 77796702], [77797411, 77797538]]
NM_001312660 [[77787229, 77787526], [77788889, 77789075], [77791212, 77791264], [77793180, 77793248], [77793814, 77793895], [77794254, 77794380], [77795465, 77795544], [77796097, 77796150], [77796652, 77796702], [77797411, 77797940]] [[77793844, 77793895], [77794254, 77794380], [77795465, 77795544], [77796097, 77796150], [77796652, 77796702], [77797411, 77797538]]
Promoter
Chrom Start End Description
chr14 77786765 77786789 CAGE_peak_2_at_GSTZ1_5end
chr14 77787369 77787399 CAGE_peak_1_at_GSTZ1_5end
chr14 77790877 77790890 CAGE_peak_8_at_GSTZ1_5end
chr14 77790901 77790923 CAGE_peak_6_at_GSTZ1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH14I077570 77570039 77571594 0.56 [{'connected_gene': 'SPTLC2', 'score': 18.05}, {'connected_gene': 'TMED8', 'score': 4.46}, {'connected_gene': 'GSTZ1', 'score': 4.29}, {'connected_gene': 'RN7SL587P', 'score': 0.34}]
chr14 GH14I077528 77528854 77529972 0.49 [{'connected_gene': 'SPTLC2', 'score': 7.74}, {'connected_gene': 'ISM2', 'score': 6.14}, {'connected_gene': 'TMED8', 'score': 5.13}, {'connected_gene': 'GSTZ1', 'score': 5.02}, {'connected_gene': 'RN7SL587P', 'score': 0.37}, {'connected_gene': 'GC14M077506', 'score': 0.34}]
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 GH14I077551 77551679 77552743 0.49 [{'connected_gene': 'VIPAS39', 'score': 12.05}, {'connected_gene': 'AHSA1', 'score': 12.05}, {'connected_gene': 'POMT2', 'score': 10.61}, {'connected_gene': 'GSTZ1', 'score': 10.61}, {'connected_gene': 'ZDHHC22', 'score': 10.41}, {'connected_gene': 'TMED8', 'score': 10.06}, {'connected_gene': 'SAMD15', 'score': 10.06}, {'connected_gene': 'SPTLC2', 'score': 9.43}, {'connected_gene': 'RN7SL587P', 'score': 0.77}]
chr14 GH14I077552 77551458 77551607 0.74 [{'connected_gene': 'VIPAS39', 'score': 12.05}, {'connected_gene': 'AHSA1', 'score': 12.05}, {'connected_gene': 'POMT2', 'score': 10.61}, {'connected_gene': 'GSTZ1', 'score': 10.61}, {'connected_gene': 'ZDHHC22', 'score': 10.41}, {'connected_gene': 'TMED8', 'score': 10.06}, {'connected_gene': 'SAMD15', 'score': 10.06}, {'connected_gene': 'SPTLC2', 'score': 9.41}, {'connected_gene': 'RN7SL587P', 'score': 0.77}]
chr14 GH14I077308 77308498 77312342 0.49 [{'connected_gene': 'POMT2', 'score': 13.44}, {'connected_gene': 'NGB', 'score': 11.43}, {'connected_gene': 'TMED8', 'score': 10.86}, {'connected_gene': 'SAMD15', 'score': 10.86}, {'connected_gene': 'ENSG00000201384', 'score': 10.7}, {'connected_gene': 'TMEM63C', 'score': 10.48}, {'connected_gene': 'GSTZ1', 'score': 8.63}, {'connected_gene': 'PIR44060', 'score': 0.44}]
chr14 GH14I077561 77561888 77564268 0.51 [{'connected_gene': 'POMT2', 'score': 9.79}, {'connected_gene': 'GSTZ1', 'score': 9.79}, {'connected_gene': 'SPTLC2', 'score': 6.28}, {'connected_gene': 'NOXRED1', 'score': 4.59}, {'connected_gene': 'RN7SL587P', 'score': 0.37}]
chr14 GH14I077296 77296133 77297241 0.69 [{'connected_gene': 'GSTZ1', 'score': 23.4}, {'connected_gene': 'POMT2', 'score': 18.15}, {'connected_gene': 'NGB', 'score': 12.0}, {'connected_gene': 'MIR1260A', 'score': 11.54}, {'connected_gene': 'ZDHHC22', 'score': 11.28}, {'connected_gene': 'ENSG00000201384', 'score': 10.97}, {'connected_gene': 'VIPAS39', 'score': 10.52}, {'connected_gene': 'AHSA1', 'score': 10.52}, {'connected_gene': 'CIPC', 'score': 9.66}, {'connected_gene': 'TMEM63C', 'score': 4.87}, {'connected_gene': 'PIR44060', 'score': 0.44}, {'connected_gene': 'PIR56307', 'score': 0.34}]
chr14 GH14I077299 77299452 77301807 0.92 [{'connected_gene': 'GSTZ1', 'score': 24.52}, {'connected_gene': 'POMT2', 'score': 18.14}, {'connected_gene': 'NGB', 'score': 11.64}, {'connected_gene': 'MIR1260A', 'score': 11.24}, {'connected_gene': 'ZDHHC22', 'score': 10.99}, {'connected_gene': 'ENSG00000201384', 'score': 10.97}, {'connected_gene': 'VIPAS39', 'score': 10.53}, {'connected_gene': 'AHSA1', 'score': 10.53}, {'connected_gene': 'CIPC', 'score': 9.66}, {'connected_gene': 'PIR44060', 'score': 0.77}, {'connected_gene': 'PIR56307', 'score': 0.34}]
chr14 GH14I077319 77319382 77322767 2.22 [{'connected_gene': 'GSTZ1', 'score': 567.95}, {'connected_gene': 'POMT2', 'score': 556.75}, {'connected_gene': 'PIR54443', 'score': 550.77}, {'connected_gene': 'TMEM63C', 'score': 4.92}, {'connected_gene': 'PIR37736', 'score': 0.34}]
chr14 GH14I077371 77371287 77374562 1.02 [{'connected_gene': 'TMED8', 'score': 22.54}, {'connected_gene': 'POMT2', 'score': 21.25}, {'connected_gene': 'GSTZ1', 'score': 21.22}, {'connected_gene': 'ENSG00000259081', 'score': 11.04}, {'connected_gene': 'AHSA1', 'score': 10.66}, {'connected_gene': 'VIPAS39', 'score': 10.65}, {'connected_gene': 'SAMD15', 'score': 0.77}, {'connected_gene': 'LOC100422225', 'score': 0.39}]
chr14 GH14I077312 77312625 77318317 1.5 [{'connected_gene': 'TMED8', 'score': 23.4}, {'connected_gene': 'GSTZ1', 'score': 17.58}, {'connected_gene': 'NGB', 'score': 11.05}, {'connected_gene': 'ZDHHC22', 'score': 10.98}, {'connected_gene': 'ENSG00000201384', 'score': 10.7}, {'connected_gene': 'SAMD15', 'score': 10.69}, {'connected_gene': 'VIPAS39', 'score': 10.42}, {'connected_gene': 'AHSA1', 'score': 10.42}, {'connected_gene': 'TMEM63C', 'score': 10.0}, {'connected_gene': 'POMT2', 'score': 6.19}, {'connected_gene': 'PIR44060', 'score': 0.39}]
chr14 GH14I077375 77375074 77377971 1.93 [{'connected_gene': 'TMED8', 'score': 572.41}, {'connected_gene': 'SAMD15', 'score': 572.23}, {'connected_gene': 'GSTZ1', 'score': 9.57}, {'connected_gene': 'LOC100422225', 'score': 0.37}]
chr14 GH14I077406 77406601 77408000 0.96 [{'connected_gene': 'SAMD15', 'score': 33.29}, {'connected_gene': 'TMED8', 'score': 24.13}, {'connected_gene': 'VIPAS39', 'score': 11.24}, {'connected_gene': 'AHSA1', 'score': 11.24}, {'connected_gene': 'POMT2', 'score': 11.22}, {'connected_gene': 'GSTZ1', 'score': 11.22}, {'connected_gene': 'GC14M077403', 'score': 0.77}, {'connected_gene': 'NOXRED1', 'score': 0.37}]
chr14 GH14I077548 77548703 77550079 0.4 [{'connected_gene': 'RN7SL587P', 'score': 550.77}, {'connected_gene': 'TMED8', 'score': 16.16}, {'connected_gene': 'VIPAS39', 'score': 12.05}, {'connected_gene': 'AHSA1', 'score': 12.05}, {'connected_gene': 'POMT2', 'score': 10.62}, {'connected_gene': 'GSTZ1', 'score': 10.62}, {'connected_gene': 'SAMD15', 'score': 10.42}, {'connected_gene': 'ZDHHC22', 'score': 10.41}, {'connected_gene': 'SPTLC2', 'score': 7.57}]
chr14 GH14I077359 77359896 77359948 0.22 [{'connected_gene': 'LOC100422225', 'score': 550.77}, {'connected_gene': 'TMED8', 'score': 22.69}, {'connected_gene': 'POMT2', 'score': 11.39}, {'connected_gene': 'GSTZ1', 'score': 11.39}, {'connected_gene': 'VIPAS39', 'score': 10.63}, {'connected_gene': 'AHSA1', 'score': 10.63}, {'connected_gene': 'SAMD15', 'score': 0.37}]
chr14 GH14I077104 77104205 77105971 0.63 [{'connected_gene': 'ENSG00000201384', 'score': 10.2}, {'connected_gene': 'POMT2', 'score': 10.02}, {'connected_gene': 'GSTZ1', 'score': 10.02}, {'connected_gene': 'NGB', 'score': 9.16}, {'connected_gene': 'CIPC', 'score': 6.76}, {'connected_gene': 'PIR36428', 'score': 0.77}, {'connected_gene': 'ENSG00000259164', 'score': 0.44}]
chr14 GH14I077106 77106472 77107471 0.2 [{'connected_gene': 'ENSG00000201384', 'score': 10.84}, {'connected_gene': 'POMT2', 'score': 10.03}, {'connected_gene': 'GSTZ1', 'score': 10.03}, {'connected_gene': 'NGB', 'score': 9.69}, {'connected_gene': 'LINC02288', 'score': 4.86}, {'connected_gene': 'PIR36428', 'score': 0.77}, {'connected_gene': 'ENSG00000259164', 'score': 0.44}, {'connected_gene': 'CIPC', 'score': 0.44}]

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