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
ENST00000592895 [[1985446, 1986648], [1986828, 1986975], [1987164, 1988568]] None
ENST00000589685 [[1985446, 1986648], [1986828, 1986975], [1987164, 1987252], [1987498, 1987691], [1990002, 1990200], [1990715, 1991298]] None
ENST00000255608 [[1985446, 1986648], [1986828, 1986975], [1987164, 1987252], [1987498, 1987691], [1990002, 1990200], [1990715, 1990821], [1993018, 1993175], [1997342, 1997462], [2015295, 2015719]] [[1986486, 1986648], [1986828, 1986975], [1987164, 1987252], [1987498, 1987691], [1990002, 1990200], [1990715, 1990821], [1993018, 1993175], [1997342, 1997462], [2015295, 2015702]]
ENST00000587825 [[1987206, 1987252], [1987498, 1987691], [1990002, 1990200], [1990715, 1990821], [1991875, 1992055], [1993018, 1993175], [1997342, 1997423]] [[1987206, 1987252], [1987498, 1987691], [1990002, 1990200], [1990715, 1990821], [1991875, 1992055], [1993018, 1993175], [1997342, 1997423]]
ENST00000592082 [[1987498, 1987691], [1990090, 1990145]] None
ENST00000587225 [[1989688, 1990200], [1990715, 1991273]] None
ENST00000589200 [[1989946, 1990200], [1990715, 1990821], [1993018, 1993175], [1997342, 1997462], [2013545, 2013879], [2015295, 2015543]] [[2013833, 2013879], [2015295, 2015543]]
ENST00000590646 [[1993099, 1993175], [1997342, 1997462], [2017181, 2017299], [2028706, 2028833], [2034749, 2034880]] None
ENST00000587742 [[1997326, 1997462], [2017043, 2017093], [2017181, 2017299], [2028706, 2028833], [2034749, 2034871]] None
ENST00000588395 [[1997350, 1997462], [2017181, 2017299], [2034749, 2034871]] None
NM_017797 [[1985446, 1986648], [1986828, 1986975], [1987164, 1987252], [1987498, 1987691], [1990002, 1990200], [1990715, 1990821], [1993018, 1993175], [1997342, 1997462], [2015295, 2015702]] [[1986486, 1986648], [1986828, 1986975], [1987164, 1987252], [1987498, 1987691], [1990002, 1990200], [1990715, 1990821], [1993018, 1993175], [1997342, 1997462], [2015295, 2015702]]
Promoter
Chrom Start End Description
chr19 2015699 2015748 CAGE_peak_1_at_BTBD2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I002123 2123782 2123931 0.52 [{'connected_gene': 'AP3D1', 'score': 14.7}, {'connected_gene': 'BTBD2', 'score': 12.36}, {'connected_gene': 'SF3A2', 'score': 11.47}, {'connected_gene': 'MIR1227', 'score': 11.47}, {'connected_gene': 'GC19P002129', 'score': 0.44}, {'connected_gene': 'PIR47033', 'score': 0.34}]
chr19 GH19I001851 1851002 1865946 2.66 [{'connected_gene': 'KLF16', 'score': 562.05}, {'connected_gene': 'ENSG00000267141', 'score': 550.77}, {'connected_gene': 'GC19M001854', 'score': 550.77}, {'connected_gene': 'SF3A2', 'score': 14.16}, {'connected_gene': 'ATP8B3', 'score': 13.32}, {'connected_gene': 'DAZAP1', 'score': 12.18}, {'connected_gene': 'ZNF555', 'score': 11.15}, {'connected_gene': 'LOC100288123', 'score': 8.31}, {'connected_gene': 'REXO1', 'score': 5.92}, {'connected_gene': 'ELOCP28', 'score': 5.19}, {'connected_gene': 'NDUFS7', 'score': 2.25}, {'connected_gene': 'MOB3A', 'score': 2.1}, {'connected_gene': 'CSNK1G2', 'score': 1.79}, {'connected_gene': 'C19orf25', 'score': 1.49}, {'connected_gene': 'SCAMP4', 'score': 1.42}, {'connected_gene': 'ADAT3', 'score': 1.42}, {'connected_gene': 'TCF3', 'score': 1.37}, {'connected_gene': 'SPPL2B', 'score': 1.29}, {'connected_gene': 'PEAK3', 'score': 1.25}, {'connected_gene': 'PLEKHJ1', 'score': 1.23}, {'connected_gene': 'BTBD2', 'score': 1.2}, {'connected_gene': 'LSM7', 'score': 1.13}, {'connected_gene': 'ENSG00000267125', 'score': 0.44}, {'connected_gene': 'GC19P001851', 'score': 0.44}]
chr19 GH19I001946 1946042 1946191 0.68 [{'connected_gene': 'KLF16', 'score': 11.8}, {'connected_gene': 'BTBD2', 'score': 5.34}, {'connected_gene': 'CSNK1G2', 'score': 0.77}, {'connected_gene': 'CSNK1G2-AS1', 'score': 0.44}]
chr19 GH19I001992 1992822 1992971 0.49 [{'connected_gene': 'KLF16', 'score': 11.72}, {'connected_gene': 'ENSG00000267283', 'score': 0.77}, {'connected_gene': 'GC19P001999', 'score': 0.44}, {'connected_gene': 'BTBD2', 'score': 0.26}]
chr19 GH19I001647 1647146 1653766 2.31 [{'connected_gene': 'TCF3', 'score': 592.67}, {'connected_gene': 'SF3A2', 'score': 52.48}, {'connected_gene': 'LOC100288123', 'score': 38.58}, {'connected_gene': 'DAZAP1', 'score': 36.5}, {'connected_gene': 'DOT1L', 'score': 32.16}, {'connected_gene': 'TMEM259', 'score': 30.38}, {'connected_gene': 'STK11', 'score': 24.52}, {'connected_gene': 'CIRBP', 'score': 23.19}, {'connected_gene': 'AP3D1', 'score': 22.94}, {'connected_gene': 'MUM1', 'score': 22.46}, {'connected_gene': 'ATP8B3', 'score': 21.52}, {'connected_gene': 'GRIN3B', 'score': 20.44}, {'connected_gene': 'SPPL2B', 'score': 20.03}, {'connected_gene': 'CSNK1G2', 'score': 19.68}, {'connected_gene': 'MED16', 'score': 19.24}, {'connected_gene': 'PTBP1', 'score': 16.58}, {'connected_gene': 'ENSG00000267317', 'score': 14.21}, {'connected_gene': 'UQCR11', 'score': 12.76}, {'connected_gene': 'WDR18', 'score': 12.53}, {'connected_gene': 'RPS15', 'score': 11.85}, {'connected_gene': 'ENSG00000268798', 'score': 11.77}, {'connected_gene': 'PALM', 'score': 11.6}, {'connected_gene': 'PLK5', 'score': 10.78}, {'connected_gene': 'LMNB2', 'score': 10.08}, {'connected_gene': 'BTBD2', 'score': 10.07}, {'connected_gene': 'C19orf24', 'score': 9.92}, {'connected_gene': 'RNF126', 'score': 9.89}, {'connected_gene': 'GC19M001626', 'score': 0.37}]
chr19 GH19I001935 1935142 1936808 1.33 [{'connected_gene': 'SF3A2', 'score': 17.29}, {'connected_gene': 'MUM1', 'score': 16.19}, {'connected_gene': 'DAZAP1', 'score': 15.19}, {'connected_gene': 'LOC100288123', 'score': 14.24}, {'connected_gene': 'TMEM259', 'score': 14.04}, {'connected_gene': 'TCF3', 'score': 13.9}, {'connected_gene': 'CIRBP', 'score': 12.81}, {'connected_gene': 'MKNK2', 'score': 12.36}, {'connected_gene': 'BTBD2', 'score': 12.33}, {'connected_gene': 'KLF16', 'score': 11.8}, {'connected_gene': 'SPPL2B', 'score': 11.65}, {'connected_gene': 'REXO1', 'score': 11.23}, {'connected_gene': 'ATP8B3', 'score': 11.18}, {'connected_gene': 'GRIN3B', 'score': 10.87}, {'connected_gene': 'DOT1L', 'score': 10.56}, {'connected_gene': 'ZNF555', 'score': 10.46}, {'connected_gene': 'LMNB2', 'score': 9.85}, {'connected_gene': 'AP3D1', 'score': 9.74}, {'connected_gene': 'CSNK1G2-AS1', 'score': 7.25}, {'connected_gene': 'GC19P001933', 'score': 0.77}, {'connected_gene': 'LOC105372238', 'score': 0.77}]
chr19 GH19I002893 2893223 2894347 0.38 [{'connected_gene': 'ZNF556', 'score': 12.11}, {'connected_gene': 'ZNF77', 'score': 11.69}, {'connected_gene': 'ZNF555', 'score': 11.68}, {'connected_gene': 'BTBD2', 'score': 4.58}, {'connected_gene': 'LOC100419704', 'score': 0.77}, {'connected_gene': 'ENSG00000267398', 'score': 0.37}]
chr19 GH19I002064 2064028 2068185 1.37 [{'connected_gene': 'BTBD2', 'score': 12.97}, {'connected_gene': 'KLF16', 'score': 11.24}, {'connected_gene': 'MOB3A', 'score': 6.58}, {'connected_gene': 'MKNK2', 'score': 1.57}, {'connected_gene': 'GC19M002058', 'score': 0.77}, {'connected_gene': 'GC19P002080', 'score': 0.39}]
chr19 GH19I002031 2031431 2036071 1.61 [{'connected_gene': 'BTBD2', 'score': 555.7}, {'connected_gene': 'ZNF77', 'score': 13.35}, {'connected_gene': 'SF3A2', 'score': 13.13}, {'connected_gene': 'DAZAP1', 'score': 12.17}, {'connected_gene': 'LINGO3', 'score': 1.25}, {'connected_gene': 'PEAK3', 'score': 1.24}, {'connected_gene': 'ENSG00000267180', 'score': 0.77}]
chr19 GH19I001928 1928962 1930616 1.3 [{'connected_gene': 'BTBD2', 'score': 17.52}, {'connected_gene': 'REXO1', 'score': 12.35}, {'connected_gene': 'KLF16', 'score': 11.88}, {'connected_gene': 'ATP8B3', 'score': 11.18}, {'connected_gene': 'CSNK1G2', 'score': 7.63}, {'connected_gene': 'SCAMP4', 'score': 6.12}, {'connected_gene': 'GC19P001933', 'score': 0.77}, {'connected_gene': 'GC19P001907', 'score': 0.34}]
chr19 GH19I001956 1956962 1957115 0.38 [{'connected_gene': 'BTBD2', 'score': 6.58}, {'connected_gene': 'CSNK1G2-AS1', 'score': 0.77}, {'connected_gene': 'CSNK1G2', 'score': 0.37}, {'connected_gene': 'GC19P001982', 'score': 0.31}]
chr19 GH19I001948 1948302 1949350 0.66 [{'connected_gene': 'BTBD2', 'score': 21.37}, {'connected_gene': 'CSNK1G2-AS1', 'score': 16.01}, {'connected_gene': 'CSNK1G2', 'score': 0.44}]
chr19 GH19I001966 1966674 1967655 0.51 [{'connected_gene': 'BTBD2', 'score': 8.14}, {'connected_gene': 'ENSG00000267283', 'score': 4.95}, {'connected_gene': 'CSNK1G2-AS1', 'score': 0.39}, {'connected_gene': 'GC19P001982', 'score': 0.37}, {'connected_gene': 'CSNK1G2', 'score': 0.31}]
chr19 GH19I002027 2027345 2029734 1.1 [{'connected_gene': 'BTBD2', 'score': 5.25}, {'connected_gene': 'GC19M002026', 'score': 0.77}, {'connected_gene': 'ENSG00000267180', 'score': 0.77}]
chr19 GH19I002038 2038922 2063128 2.91 [{'connected_gene': 'MKNK2', 'score': 564.18}, {'connected_gene': 'SF3A2', 'score': 32.17}, {'connected_gene': 'DAZAP1', 'score': 29.64}, {'connected_gene': 'ZNF77', 'score': 27.74}, {'connected_gene': 'TCF3', 'score': 21.98}, {'connected_gene': 'CIRBP', 'score': 21.17}, {'connected_gene': 'LOC100288123', 'score': 19.49}, {'connected_gene': 'MUM1', 'score': 19.31}, {'connected_gene': 'DOT1L', 'score': 14.12}, {'connected_gene': 'LMNB2', 'score': 12.32}, {'connected_gene': 'BTBD2', 'score': 12.14}, {'connected_gene': 'ENSG00000268798', 'score': 11.72}, {'connected_gene': 'PLK5', 'score': 10.68}, {'connected_gene': 'STK11', 'score': 10.58}, {'connected_gene': 'RPS15', 'score': 10.57}, {'connected_gene': 'PEAK3', 'score': 9.85}, {'connected_gene': 'MOB3A', 'score': 9.62}, {'connected_gene': 'CSNK1G2', 'score': 7.22}, {'connected_gene': 'ABHD17A', 'score': 4.5}, {'connected_gene': 'REXO1', 'score': 4.43}, {'connected_gene': 'GADD45B', 'score': 2.22}, {'connected_gene': 'OAZ1', 'score': 1.88}, {'connected_gene': 'SCAMP4', 'score': 1.4}, {'connected_gene': 'ADAT3', 'score': 1.4}, {'connected_gene': 'GC19P002053', 'score': 0.77}, {'connected_gene': 'GC19M002058', 'score': 0.39}]
chr19 GH19I002037 2037485 2038768 0.67 [{'connected_gene': 'MKNK2', 'score': 7.02}, {'connected_gene': 'BTBD2', 'score': 0.77}]
chr19 GH19I001947 1947882 1948131 0.58 [{'connected_gene': 'CSNK1G2-AS1', 'score': 14.38}, {'connected_gene': 'BTBD2', 'score': 12.89}, {'connected_gene': 'KLF16', 'score': 11.8}, {'connected_gene': 'CSNK1G2', 'score': 0.44}]
chr19 GH19I001939 1939298 1944736 2.58 [{'connected_gene': 'CSNK1G2', 'score': 564.48}, {'connected_gene': 'LOC105372238', 'score': 550.77}, {'connected_gene': 'KLF16', 'score': 14.48}, {'connected_gene': 'ZNF555', 'score': 11.76}, {'connected_gene': 'SF3A2', 'score': 9.69}, {'connected_gene': 'BTBD2', 'score': 9.27}, {'connected_gene': 'CSNK1G2-AS1', 'score': 8.41}, {'connected_gene': 'PEAK3', 'score': 7.31}, {'connected_gene': 'ENSG00000267283', 'score': 7.15}, {'connected_gene': 'REXO1', 'score': 6.36}, {'connected_gene': 'ENSG00000267122', 'score': 5.65}, {'connected_gene': 'MKNK2', 'score': 3.95}, {'connected_gene': 'MOB3A', 'score': 3.7}, {'connected_gene': 'OAZ1', 'score': 3.13}, {'connected_gene': 'DOT1L', 'score': 2.45}]
chr19 GH19I002079 2079414 2098291 2.64 [{'connected_gene': 'MOB3A', 'score': 561.07}, {'connected_gene': 'IZUMO4', 'score': 558.44}, {'connected_gene': 'SF3A2', 'score': 26.43}, {'connected_gene': 'ZNF77', 'score': 24.9}, {'connected_gene': 'BTBD2', 'score': 22.78}, {'connected_gene': 'CIRBP', 'score': 22.36}, {'connected_gene': 'LOC100288123', 'score': 19.68}, {'connected_gene': 'TCF3', 'score': 19.16}, {'connected_gene': 'DAZAP1', 'score': 18.88}, {'connected_gene': 'MKNK2', 'score': 18.49}, {'connected_gene': 'DOT1L', 'score': 13.39}, {'connected_gene': 'LMNB2', 'score': 12.32}, {'connected_gene': 'TLE2', 'score': 12.02}, {'connected_gene': 'ENSG00000268798', 'score': 11.72}, {'connected_gene': 'RPS15', 'score': 11.16}, {'connected_gene': 'ZNF555', 'score': 11.15}, {'connected_gene': 'CSNK1G2', 'score': 10.91}, {'connected_gene': 'PLK5', 'score': 10.68}, {'connected_gene': 'ENSG00000267317', 'score': 10.63}, {'connected_gene': 'STK11', 'score': 10.57}, {'connected_gene': 'MIDN', 'score': 10.38}, {'connected_gene': 'MUM1', 'score': 9.9}, {'connected_gene': 'PEAK3', 'score': 8.35}, {'connected_gene': 'GADD45B', 'score': 3.53}, {'connected_gene': 'REXO1', 'score': 2.81}, {'connected_gene': 'OAZ1', 'score': 2.01}, {'connected_gene': 'KLF16', 'score': 1.95}, {'connected_gene': 'GC19P002087', 'score': 0.77}, {'connected_gene': 'GC19P002086', 'score': 0.77}, {'connected_gene': 'GC19P002080', 'score': 0.44}]
chr19 GH19I002014 2014600 2016709 1.74 [{'connected_gene': 'ENSG00000275468', 'score': 550.77}, {'connected_gene': 'GC19M002012', 'score': 550.77}, {'connected_gene': 'BTBD2', 'score': 550.37}, {'connected_gene': 'TMEM259', 'score': 24.39}, {'connected_gene': 'SF3A2', 'score': 21.4}, {'connected_gene': 'ENSG00000267317', 'score': 16.33}, {'connected_gene': 'DAZAP1', 'score': 15.81}, {'connected_gene': 'TCF3', 'score': 15.25}, {'connected_gene': 'LOC100288123', 'score': 15.09}, {'connected_gene': 'ENSG00000267283', 'score': 10.53}, {'connected_gene': 'RPS15', 'score': 10.17}, {'connected_gene': 'ZNF77', 'score': 10.13}, {'connected_gene': 'CIRBP', 'score': 9.92}, {'connected_gene': 'GC19P002022', 'score': 0.77}]
chr19 GH19I001932 1932551 1933835 0.63 [{'connected_gene': 'GC19P001933', 'score': 550.77}, {'connected_gene': 'BTBD2', 'score': 19.57}, {'connected_gene': 'KLF16', 'score': 11.82}, {'connected_gene': 'REXO1', 'score': 11.23}, {'connected_gene': 'ATP8B3', 'score': 11.18}, {'connected_gene': 'CSNK1G2-AS1', 'score': 6.02}, {'connected_gene': 'SF3A2', 'score': 5.39}, {'connected_gene': 'SCAMP4', 'score': 4.9}, {'connected_gene': 'GC19P001907', 'score': 0.31}]
chr19 GH19I002019 2019401 2020001 1.08 [{'connected_gene': 'GC19P002022', 'score': 550.77}, {'connected_gene': 'BTBD2', 'score': 5.6}, {'connected_gene': 'GC19M002019', 'score': 0.77}, {'connected_gene': 'GC19M002012', 'score': 0.77}]
chr19 GH19I002015 2014430 2014591 0.2 [{'connected_gene': 'ENSG00000275468', 'score': 550.77}, {'connected_gene': 'GC19M002012', 'score': 550.77}, {'connected_gene': 'ENSG00000279653', 'score': 0.39}, {'connected_gene': 'BTBD2', 'score': 0.34}]
chr19 GH19I002017 2017272 2017443 0.53 [{'connected_gene': 'GC19P002022', 'score': 0.77}, {'connected_gene': 'GC19M002012', 'score': 0.77}, {'connected_gene': 'BTBD2', 'score': 0.37}]
chr19 GH19I002021 2021478 2022204 0.31 [{'connected_gene': 'GC19M002019', 'score': 550.77}, {'connected_gene': 'GC19P002022', 'score': 550.77}, {'connected_gene': 'GC19P002025', 'score': 0.77}, {'connected_gene': 'BTBD2', 'score': 0.39}]
chr19 GH19I002030 2030782 2031156 0.2 [{'connected_gene': 'ENSG00000267180', 'score': 550.77}, {'connected_gene': 'BTBD2', 'score': 0.77}, {'connected_gene': 'GC19M002026', 'score': 0.77}]
chr19 GH19I001988 1988582 1988731 0.2 [{'connected_gene': 'ENSG00000267283', 'score': 558.79}, {'connected_gene': 'PIR36928', 'score': 550.77}, {'connected_gene': 'CSNK1G2-AS1', 'score': 13.13}, {'connected_gene': 'BTBD2', 'score': 13.05}, {'connected_gene': 'CSNK1G2', 'score': 12.74}, {'connected_gene': 'MKNK2', 'score': 12.19}]
chr19 GH19I001979 1979509 1982010 0.54 [{'connected_gene': 'GC19P001982', 'score': 550.77}, {'connected_gene': 'CSNK1G2-AS1', 'score': 13.15}, {'connected_gene': 'BTBD2', 'score': 13.03}, {'connected_gene': 'CSNK1G2', 'score': 12.77}, {'connected_gene': 'MKNK2', 'score': 12.18}, {'connected_gene': 'ENSG00000267283', 'score': 8.6}]
chr19 GH19I002487 2487749 2490071 1.38 [{'connected_gene': 'GC19P002492', 'score': 550.77}, {'connected_gene': 'ATP8B3', 'score': 5.37}, {'connected_gene': 'BTBD2', 'score': 4.1}, {'connected_gene': 'MOB3A', 'score': 2.35}, {'connected_gene': 'PLEKHJ1', 'score': 2.16}, {'connected_gene': 'TIMM13', 'score': 1.83}, {'connected_gene': 'SGTA', 'score': 1.7}, {'connected_gene': 'SF3A2', 'score': 1.4}, {'connected_gene': 'PIR42747', 'score': 0.77}]
chr19 GH19I001382 1382922 1385129 2.37 [{'connected_gene': 'PIR43938', 'score': 550.77}, {'connected_gene': 'TRF-GAA1-6', 'score': 550.77}, {'connected_gene': 'PIR60227', 'score': 550.77}, {'connected_gene': 'NDUFS7', 'score': 550.77}, {'connected_gene': 'TRN-GTT2-6', 'score': 550.77}, {'connected_gene': 'CIRBP', 'score': 135.56}, {'connected_gene': 'SF3A2', 'score': 119.07}, {'connected_gene': 'TMEM259', 'score': 103.99}, {'connected_gene': 'MUM1', 'score': 94.25}, {'connected_gene': 'TCF3', 'score': 75.15}, {'connected_gene': 'LOC100288123', 'score': 72.83}, {'connected_gene': 'DAZAP1', 'score': 66.92}, {'connected_gene': 'GRIN3B', 'score': 60.65}, {'connected_gene': 'SPPL2B', 'score': 57.85}, {'connected_gene': 'PTBP1', 'score': 50.93}, {'connected_gene': 'ENSG00000261526', 'score': 46.95}, {'connected_gene': 'ENSG00000267283', 'score': 45.56}, {'connected_gene': 'ENSG00000267317', 'score': 39.04}, {'connected_gene': 'MED16', 'score': 36.49}, {'connected_gene': 'AP3D1', 'score': 31.5}, {'connected_gene': 'DOT1L', 'score': 30.54}, {'connected_gene': 'MEX3D', 'score': 29.79}, {'connected_gene': 'PALM', 'score': 28.34}, {'connected_gene': 'LOC105372232', 'score': 27.53}, {'connected_gene': 'ENSG00000267666', 'score': 27.21}, {'connected_gene': 'WDR18', 'score': 22.59}, {'connected_gene': 'PLK5', 'score': 21.37}, {'connected_gene': 'C19orf24', 'score': 21.14}, {'connected_gene': 'CSNK1G2', 'score': 19.65}, {'connected_gene': 'CNN2', 'score': 17.98}, {'connected_gene': 'CFD', 'score': 14.77}, {'connected_gene': 'POLRMT', 'score': 12.27}, {'connected_gene': 'ATP8B3', 'score': 11.98}, {'connected_gene': 'ENSG00000268798', 'score': 11.92}, {'connected_gene': 'SCAMP4', 'score': 11.25}, {'connected_gene': 'STK11', 'score': 11.17}, {'connected_gene': 'LSM7', 'score': 10.91}, {'connected_gene': 'FGF22', 'score': 10.8}, {'connected_gene': 'C19orf25', 'score': 10.65}, {'connected_gene': 'MIDN', 'score': 10.47}, {'connected_gene': 'RPS15', 'score': 10.37}, {'connected_gene': 'MBD3', 'score': 10.35}, {'connected_gene': 'BTBD2', 'score': 10.05}, {'connected_gene': 'RNF126', 'score': 9.89}, {'connected_gene': 'SBNO2', 'score': 9.85}, {'connected_gene': 'ENSG00000280486', 'score': 0.44}]