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
ENST00000293328 [[40351185, 40353882], [40354357, 40354465], [40354774, 40354826], [40359575, 40359746], [40362188, 40362319], [40362420, 40362515], [40364001, 40364208], [40368031, 40368124], [40369177, 40369300], [40369394, 40369482], [40370168, 40370348], [40370740, 40370896], [40371329, 40371481], [40371729, 40371860], [40375399, 40375574], [40376796, 40376886], [40379546, 40379703], [40384017, 40384155], [40428265, 40428424]] [[40353755, 40353882], [40354357, 40354465], [40354774, 40354826], [40359575, 40359746], [40362188, 40362319], [40362420, 40362515], [40364001, 40364208], [40368031, 40368124], [40369177, 40369300], [40369394, 40369482], [40370168, 40370348], [40370740, 40370896], [40371329, 40371481], [40371729, 40371860], [40375399, 40375574], [40376796, 40376886], [40379546, 40379703], [40384017, 40384145]]
ENST00000468312 [[40369707, 40370348], [40370740, 40370896], [40371329, 40371481], [40371729, 40371860], [40375399, 40375574], [40376796, 40376886], [40379546, 40379703], [40384017, 40384155], [40428265, 40428424]] None
ENST00000498674 [[40354120, 40354465], [40354774, 40354971]] None
ENST00000481253 [[40359576, 40359746], [40362188, 40362319], [40362420, 40362610]] None
ENST00000468496 [[40359599, 40359746], [40362188, 40362515], [40364001, 40364208], [40368031, 40368124], [40369177, 40369300]] None
ENST00000481517 [[40362434, 40362515], [40364001, 40364208], [40368031, 40368124], [40369177, 40369300], [40369394, 40369889]] None
ENST00000415845 [[40375480, 40375574], [40376796, 40376886], [40379546, 40379703], [40384017, 40384155], [40428645, 40428725]] [[40375480, 40375574], [40376796, 40376886], [40379546, 40379703], [40384017, 40384145]]
NM_012448 [[40351194, 40353882], [40354357, 40354465], [40354774, 40354826], [40359575, 40359746], [40362188, 40362319], [40362420, 40362515], [40364001, 40364208], [40368031, 40368124], [40369177, 40369300], [40369394, 40369482], [40370168, 40370348], [40370740, 40370896], [40371329, 40371481], [40371729, 40371860], [40375399, 40375574], [40376796, 40376886], [40379546, 40379703], [40384017, 40384155], [40428265, 40428424]] [[40353755, 40353882], [40354357, 40354465], [40354774, 40354826], [40359575, 40359746], [40362188, 40362319], [40362420, 40362515], [40364001, 40364208], [40368031, 40368124], [40369177, 40369300], [40369394, 40369482], [40370168, 40370348], [40370740, 40370896], [40371329, 40371481], [40371729, 40371860], [40375399, 40375574], [40376796, 40376886], [40379546, 40379703], [40384017, 40384145]]
Promoter
Chrom Start End Description
chr17 40428334 40428345 CAGE_peak_2_at_STAT5B_5end
chr17 40428359 40428462 CAGE_peak_1_at_STAT5B_5end
chr17 40429090 40429125 CAGE_peak_3_at_STAT5B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I042266 42266056 42278823 2.82 [{'connected_gene': 'STAT5B', 'score': 561.57}, {'connected_gene': 'ENSG00000236194', 'score': 550.77}, {'connected_gene': 'CNTNAP1', 'score': 21.75}, {'connected_gene': 'TUBG2', 'score': 16.92}, {'connected_gene': 'ENSG00000259623', 'score': 12.31}, {'connected_gene': 'ENSG00000267765', 'score': 11.27}, {'connected_gene': 'HSD17B1P1', 'score': 9.94}, {'connected_gene': 'DHX58', 'score': 9.64}, {'connected_gene': 'STAT5A', 'score': 7.68}, {'connected_gene': 'STAT3', 'score': 5.74}, {'connected_gene': 'EZH1', 'score': 2.27}, {'connected_gene': 'RAB5C', 'score': 2.02}, {'connected_gene': 'KLHL11', 'score': 1.43}, {'connected_gene': 'NKIRAS2', 'score': 1.42}, {'connected_gene': 'DNAJC7', 'score': 1.26}, {'connected_gene': 'ENSG00000278829', 'score': 0.77}, {'connected_gene': 'ENSG00000267758', 'score': 0.77}, {'connected_gene': 'GC17P042265', 'score': 0.44}]
chr17 GH17I042198 42198401 42202674 1.12 [{'connected_gene': 'STAT5B', 'score': 10.97}, {'connected_gene': 'ENSG00000236194', 'score': 10.95}, {'connected_gene': 'DHX58', 'score': 10.66}, {'connected_gene': 'CNP', 'score': 10.37}, {'connected_gene': 'NT5C3B', 'score': 4.97}, {'connected_gene': 'GHDC', 'score': 0.44}, {'connected_gene': 'ENSG00000280295', 'score': 0.29}]
chr17 GH17I042245 42245834 42256824 1.81 [{'connected_gene': 'STAT5B', 'score': 34.99}, {'connected_gene': 'STAT5A', 'score': 16.0}, {'connected_gene': 'HMGN1P29', 'score': 14.41}, {'connected_gene': 'ENSG00000267758', 'score': 14.3}, {'connected_gene': 'GHDC', 'score': 10.56}, {'connected_gene': 'HCRT', 'score': 10.33}, {'connected_gene': 'KCNH4', 'score': 10.32}, {'connected_gene': 'RPL27', 'score': 10.3}, {'connected_gene': 'NAGLU', 'score': 10.19}, {'connected_gene': 'PLEKHH3', 'score': 10.04}, {'connected_gene': 'ATP6V0A1', 'score': 9.74}, {'connected_gene': 'CNP', 'score': 9.72}, {'connected_gene': 'STAT3', 'score': 6.69}, {'connected_gene': 'MLX', 'score': 5.12}, {'connected_gene': 'EZH1', 'score': 4.89}, {'connected_gene': 'DHX58', 'score': 4.48}, {'connected_gene': 'KLHL11', 'score': 2.07}, {'connected_gene': 'RAB5C', 'score': 1.66}, {'connected_gene': 'RETREG3', 'score': 1.28}, {'connected_gene': 'GC17P042265', 'score': 0.39}, {'connected_gene': 'ENSG00000280295', 'score': 0.37}]
chr17 GH17I042281 42281563 42281712 0.58 [{'connected_gene': 'STAT5B', 'score': 0.77}, {'connected_gene': 'STAT5A', 'score': 0.44}]
chr17 GH17I042304 42304135 42304818 0.68 [{'connected_gene': 'STAT5B', 'score': 11.42}, {'connected_gene': 'ENSG00000236194', 'score': 11.41}, {'connected_gene': 'ATP6V0A1', 'score': 10.29}, {'connected_gene': 'PIR49037', 'score': 0.77}, {'connected_gene': 'GC17M042314', 'score': 0.39}, {'connected_gene': 'STAT5A', 'score': 0.37}]
chr17 GH17I042305 42305627 42306751 0.66 [{'connected_gene': 'STAT5B', 'score': 11.42}, {'connected_gene': 'ENSG00000236194', 'score': 11.41}, {'connected_gene': 'ATP6V0A1', 'score': 10.29}, {'connected_gene': 'MIR5010', 'score': 4.52}, {'connected_gene': 'PIR49037', 'score': 0.44}, {'connected_gene': 'GC17M042314', 'score': 0.39}, {'connected_gene': 'STAT5A', 'score': 0.37}]
chr17 GH17I042227 42227802 42229277 0.83 [{'connected_gene': 'STAT5B', 'score': 12.74}, {'connected_gene': 'ENSG00000236194', 'score': 11.71}, {'connected_gene': 'MLX', 'score': 5.97}, {'connected_gene': 'ENSG00000280295', 'score': 0.44}, {'connected_gene': 'GHDC', 'score': 0.29}]
chr17 GH17I042209 42209663 42211006 0.4 [{'connected_gene': 'STAT5B', 'score': 12.14}, {'connected_gene': 'HCRT', 'score': 11.22}, {'connected_gene': 'KCNH4', 'score': 11.2}, {'connected_gene': 'ENSG00000236194', 'score': 10.86}, {'connected_gene': 'GHDC', 'score': 0.37}, {'connected_gene': 'ENSG00000280295', 'score': 0.34}]
chr17 GH17I042223 42222859 42223981 0.31 [{'connected_gene': 'STAT5B', 'score': 12.72}, {'connected_gene': 'ENSG00000236194', 'score': 11.75}, {'connected_gene': 'CAVIN1', 'score': 10.43}, {'connected_gene': 'ATP6V0A1', 'score': 9.91}, {'connected_gene': 'RNU7-97P', 'score': 9.76}, {'connected_gene': 'NT5C3B', 'score': 8.56}, {'connected_gene': 'AOC4P', 'score': 5.09}, {'connected_gene': 'ENSG00000280295', 'score': 0.39}, {'connected_gene': 'GHDC', 'score': 0.31}]
chr17 GH17I042211 42211138 42213496 0.58 [{'connected_gene': 'STAT5A', 'score': 12.78}, {'connected_gene': 'STAT5B', 'score': 12.37}, {'connected_gene': 'ENSG00000236194', 'score': 11.55}, {'connected_gene': 'HCRT', 'score': 11.09}, {'connected_gene': 'KCNH4', 'score': 11.07}, {'connected_gene': 'GHDC', 'score': 0.37}, {'connected_gene': 'ENSG00000280295', 'score': 0.34}]
chr17 GH17I042213 42213845 42215622 0.38 [{'connected_gene': 'STAT5A', 'score': 12.67}, {'connected_gene': 'STAT5B', 'score': 12.37}, {'connected_gene': 'HCRT', 'score': 11.0}, {'connected_gene': 'KCNH4', 'score': 10.98}, {'connected_gene': 'NT5C3B', 'score': 6.02}, {'connected_gene': 'ENSG00000280295', 'score': 0.37}, {'connected_gene': 'GHDC', 'score': 0.34}]
chr17 GH17I042218 42218872 42220896 0.2 [{'connected_gene': 'STAT5A', 'score': 12.68}, {'connected_gene': 'STAT5B', 'score': 12.38}, {'connected_gene': 'HCRT', 'score': 10.98}, {'connected_gene': 'KCNH4', 'score': 10.96}, {'connected_gene': 'NT5C3B', 'score': 5.82}, {'connected_gene': 'DHX58', 'score': 5.02}, {'connected_gene': 'ENSG00000280295', 'score': 0.39}, {'connected_gene': 'GHDC', 'score': 0.31}]
chr17 GH17I042243 42243601 42244000 0.66 [{'connected_gene': 'STAT5A', 'score': 5.17}, {'connected_gene': 'ENSG00000280295', 'score': 0.44}, {'connected_gene': 'GC17P042265', 'score': 0.34}, {'connected_gene': 'STAT5B', 'score': 0.29}]
chr17 GH17I042282 42282723 42282872 0.74 [{'connected_gene': 'STAT5A', 'score': 6.45}, {'connected_gene': 'STAT5B', 'score': 0.44}]
chr17 GH17I042283 42282935 42284094 0.77 [{'connected_gene': 'FKBP10', 'score': 5.04}, {'connected_gene': 'KRT19', 'score': 4.28}, {'connected_gene': 'STAT5A', 'score': 0.77}, {'connected_gene': 'STAT5B', 'score': 0.44}]
chr17 GH17I042324 42324683 42326649 0.88 [{'connected_gene': 'CAVIN1', 'score': 12.02}, {'connected_gene': 'STAT5B', 'score': 11.83}, {'connected_gene': 'ATP6V0A1', 'score': 11.69}, {'connected_gene': 'RNU7-97P', 'score': 11.15}, {'connected_gene': 'ZNF385C', 'score': 10.43}, {'connected_gene': 'MIR5010', 'score': 4.76}, {'connected_gene': 'GC17M042314', 'score': 0.44}, {'connected_gene': 'GC17M042386', 'score': 0.21}, {'connected_gene': 'STAT3', 'score': 0.21}]
chr17 GH17I042328 42328075 42330438 1 [{'connected_gene': 'CAVIN1', 'score': 12.02}, {'connected_gene': 'STAT5B', 'score': 11.81}, {'connected_gene': 'RNU7-97P', 'score': 11.15}, {'connected_gene': 'ATP6V0A1', 'score': 10.94}, {'connected_gene': 'ZNF385C', 'score': 10.42}, {'connected_gene': 'STAT3', 'score': 4.89}, {'connected_gene': 'LOC105371781', 'score': 4.72}, {'connected_gene': 'MIR5010', 'score': 4.67}, {'connected_gene': 'GC17M042314', 'score': 0.39}, {'connected_gene': 'GC17M042386', 'score': 0.22}]
chr17 GH17I042332 42332762 42333784 0.63 [{'connected_gene': 'CAVIN1', 'score': 12.02}, {'connected_gene': 'STAT5B', 'score': 11.8}, {'connected_gene': 'RNU7-97P', 'score': 11.16}, {'connected_gene': 'ATP6V0A1', 'score': 10.94}, {'connected_gene': 'ZNF385C', 'score': 10.42}, {'connected_gene': 'LOC105371781', 'score': 4.85}, {'connected_gene': 'HSPB9', 'score': 4.67}, {'connected_gene': 'GC17M042314', 'score': 0.37}, {'connected_gene': 'GC17M042386', 'score': 0.22}, {'connected_gene': 'STAT3', 'score': 0.22}]
chr17 GH17I042334 42334638 42335529 0.38 [{'connected_gene': 'CAVIN1', 'score': 12.03}, {'connected_gene': 'STAT5B', 'score': 11.8}, {'connected_gene': 'RNU7-97P', 'score': 11.26}, {'connected_gene': 'ATP6V0A1', 'score': 11.08}, {'connected_gene': 'ZNF385C', 'score': 10.42}, {'connected_gene': 'ENSG00000236194', 'score': 10.32}, {'connected_gene': 'LOC105371781', 'score': 4.85}, {'connected_gene': 'GC17M042314', 'score': 0.37}, {'connected_gene': 'GC17M042386', 'score': 0.23}, {'connected_gene': 'STAT3', 'score': 0.23}]
chr17 GH17I042240 42240156 42241381 0.54 [{'connected_gene': 'NT5C3B', 'score': 5.43}, {'connected_gene': 'ENSG00000280295', 'score': 0.44}, {'connected_gene': 'GC17P042265', 'score': 0.31}, {'connected_gene': 'STAT5B', 'score': 0.28}]
chr17 GH17I042511 42511599 42515214 1.03 [{'connected_gene': 'MIR5010', 'score': 550.77}, {'connected_gene': 'RNU7-97P', 'score': 12.35}, {'connected_gene': 'ATP6V0A1', 'score': 12.04}, {'connected_gene': 'CAVIN1', 'score': 11.44}, {'connected_gene': 'STAT5B', 'score': 10.16}, {'connected_gene': 'KCNH4', 'score': 10.11}, {'connected_gene': 'HCRT', 'score': 10.11}, {'connected_gene': 'MLX', 'score': 8.15}, {'connected_gene': 'ENSG00000267632', 'score': 0.77}]
chr17 GH17I042233 42233283 42233432 0.52 [{'connected_gene': 'ENSG00000280295', 'score': 550.77}, {'connected_gene': 'GHDC', 'score': 0.28}, {'connected_gene': 'STAT5B', 'score': 0.26}]
chr17 GH17I042306 42306942 42307640 0.43 [{'connected_gene': 'ENSG00000236194', 'score': 11.41}, {'connected_gene': 'STAT5B', 'score': 11.4}, {'connected_gene': 'ATP6V0A1', 'score': 10.29}, {'connected_gene': 'MIR5010', 'score': 4.53}, {'connected_gene': 'PIR49037', 'score': 0.44}, {'connected_gene': 'GC17M042314', 'score': 0.44}, {'connected_gene': 'STAT5A', 'score': 0.37}]
chr17 GH17I042301 42301983 42302562 0.46 [{'connected_gene': 'PIR49037', 'score': 550.77}, {'connected_gene': 'STAT5B', 'score': 12.73}, {'connected_gene': 'ENSG00000236194', 'score': 11.45}, {'connected_gene': 'CAVIN1', 'score': 11.08}, {'connected_gene': 'HCRT', 'score': 10.52}, {'connected_gene': 'KCNH4', 'score': 10.51}, {'connected_gene': 'RNU7-97P', 'score': 10.32}, {'connected_gene': 'GC17M042314', 'score': 0.39}, {'connected_gene': 'STAT5A', 'score': 0.39}]
chr17 GH17I042234 42234043 42234904 0.4 [{'connected_gene': 'ENSG00000280295', 'score': 550.77}, {'connected_gene': 'GC17P042265', 'score': 0.29}, {'connected_gene': 'STAT5B', 'score': 0.26}]
chr17 GH17I042265 42265272 42265774 0.46 [{'connected_gene': 'GC17P042265', 'score': 550.77}, {'connected_gene': 'STAT5B', 'score': 0.39}, {'connected_gene': 'ENSG00000280295', 'score': 0.29}]
chr17 GH17I042472 42472645 42476694 0.54 [{'connected_gene': 'GC17P042478', 'score': 550.77}, {'connected_gene': 'MLX', 'score': 20.49}, {'connected_gene': 'RNU7-97P', 'score': 12.35}, {'connected_gene': 'CAVIN1', 'score': 11.53}, {'connected_gene': 'PSMC3IP', 'score': 10.12}, {'connected_gene': 'STAT5B', 'score': 9.82}, {'connected_gene': 'ENSG00000236194', 'score': 9.74}, {'connected_gene': 'WNK4', 'score': 6.73}, {'connected_gene': 'BECN1', 'score': 4.92}, {'connected_gene': 'ATP6V0A1', 'score': 0.37}]
chr17 GH17I042596 42596925 42597208 0.34 [{'connected_gene': 'ENSG00000280183', 'score': 550.77}, {'connected_gene': 'TUBG2', 'score': 11.58}, {'connected_gene': 'HMGN2P15', 'score': 11.05}, {'connected_gene': 'RAMP2-AS1', 'score': 11.04}, {'connected_gene': 'RAMP2', 'score': 11.04}, {'connected_gene': 'VPS25', 'score': 11.04}, {'connected_gene': 'WNK4', 'score': 10.28}, {'connected_gene': 'AARSD1', 'score': 10.21}, {'connected_gene': 'RUNDC1', 'score': 10.21}, {'connected_gene': 'PTGES3L-AARSD1', 'score': 10.21}, {'connected_gene': 'CNTD1', 'score': 10.14}, {'connected_gene': 'COA3', 'score': 10.14}, {'connected_gene': 'RNU7-97P', 'score': 9.68}, {'connected_gene': 'NAGLU', 'score': 5.79}, {'connected_gene': 'STAT5B', 'score': 2.99}, {'connected_gene': 'STAT3', 'score': 2.25}, {'connected_gene': 'RETREG3', 'score': 0.39}, {'connected_gene': 'PIR42459', 'score': 0.37}]
chr17 GH17I042256 42256843 42262133 0.69 [{'connected_gene': 'ENSG00000267002', 'score': 15.91}, {'connected_gene': 'ENSG00000267340', 'score': 13.58}, {'connected_gene': 'KAT2A', 'score': 12.33}, {'connected_gene': 'P3H4', 'score': 11.23}, {'connected_gene': 'CCR10', 'score': 10.63}, {'connected_gene': 'ATP6V0A1', 'score': 9.74}, {'connected_gene': 'CNP', 'score': 8.92}, {'connected_gene': 'STAT5A', 'score': 5.13}, {'connected_gene': 'HSPB9', 'score': 5.08}, {'connected_gene': 'GC17P042265', 'score': 0.44}, {'connected_gene': 'STAT5B', 'score': 0.37}, {'connected_gene': 'ENSG00000280295', 'score': 0.31}]
chr17 GH17I042476 42476801 42477000 0.31 [{'connected_gene': 'GC17P042478', 'score': 550.77}, {'connected_gene': 'RNU7-97P', 'score': 12.33}, {'connected_gene': 'CAVIN1', 'score': 11.53}, {'connected_gene': 'PSMC3IP', 'score': 10.12}, {'connected_gene': 'STAT5B', 'score': 9.81}, {'connected_gene': 'ENSG00000236194', 'score': 9.74}, {'connected_gene': 'GC17P042485', 'score': 0.44}, {'connected_gene': 'ATP6V0A1', 'score': 0.37}]
chr17 GH17I042222 42222243 42222472 1.05 [{'connected_gene': 'ENSG00000267340', 'score': 39.53}, {'connected_gene': 'ENSG00000267002', 'score': 34.73}, {'connected_gene': 'NBR2', 'score': 23.11}, {'connected_gene': 'CNTNAP1', 'score': 21.75}, {'connected_gene': 'ENSG00000267765', 'score': 20.77}, {'connected_gene': 'TUBG2', 'score': 16.91}, {'connected_gene': 'CNTD1', 'score': 15.62}, {'connected_gene': 'NKIRAS2', 'score': 15.5}, {'connected_gene': 'KAT2A', 'score': 13.41}, {'connected_gene': 'JUP', 'score': 13.3}, {'connected_gene': 'RETREG3', 'score': 12.96}, {'connected_gene': 'HMGN2P15', 'score': 12.76}, {'connected_gene': 'RAMP2-AS1', 'score': 12.32}, {'connected_gene': 'ENSG00000259623', 'score': 12.32}, {'connected_gene': 'STAT5B', 'score': 12.23}, {'connected_gene': 'ENSG00000236194', 'score': 11.74}, {'connected_gene': 'C17orf113', 'score': 11.16}, {'connected_gene': 'HMGN1P29', 'score': 10.82}, {'connected_gene': 'STAT3', 'score': 10.57}, {'connected_gene': 'CCR10', 'score': 10.47}, {'connected_gene': 'CAVIN1', 'score': 10.38}, {'connected_gene': 'LOC108783654', 'score': 10.09}, {'connected_gene': 'PLEKHH3', 'score': 10.01}, {'connected_gene': 'DHX58', 'score': 10.0}, {'connected_gene': 'HSD17B1P1', 'score': 9.93}, {'connected_gene': 'P3H4', 'score': 9.79}, {'connected_gene': 'ATP6V0A1', 'score': 9.76}, {'connected_gene': 'RNU7-97P', 'score': 9.76}, {'connected_gene': 'ENSG00000280295', 'score': 0.39}, {'connected_gene': 'GHDC', 'score': 0.31}]
chr17 GH17I042308 42308128 42323984 1.8 [{'connected_gene': 'GC17M042314', 'score': 550.77}, {'connected_gene': 'HMGN1P29', 'score': 35.21}, {'connected_gene': 'STAT5A', 'score': 26.18}, {'connected_gene': 'ENSG00000267758', 'score': 23.04}, {'connected_gene': 'ACLY', 'score': 20.08}, {'connected_gene': 'NBR2', 'score': 18.3}, {'connected_gene': 'ENSG00000267340', 'score': 13.1}, {'connected_gene': 'PLEKHH3', 'score': 12.77}, {'connected_gene': 'STAT5B', 'score': 11.91}, {'connected_gene': 'ATP6V0A1', 'score': 11.69}, {'connected_gene': 'CAVIN1', 'score': 11.56}, {'connected_gene': 'GHDC', 'score': 11.54}, {'connected_gene': 'DHX58', 'score': 11.24}, {'connected_gene': 'ENSG00000236194', 'score': 11.15}, {'connected_gene': 'RNU7-97P', 'score': 10.93}, {'connected_gene': 'PSME3', 'score': 10.29}, {'connected_gene': 'NAGLU', 'score': 10.23}, {'connected_gene': 'NBR1', 'score': 10.06}, {'connected_gene': 'LOC108783654', 'score': 10.01}, {'connected_gene': 'STAT3', 'score': 7.71}, {'connected_gene': 'MIR5010', 'score': 5.17}, {'connected_gene': 'PIR49037', 'score': 0.37}]

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