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
ENST00000294072 [[61116216, 61117894], [61118462, 61118619], [61120456, 61120611], [61121255, 61121464], [61124001, 61124200], [61125204, 61125300], [61129204, 61129771]] [[61117870, 61117894], [61118462, 61118619], [61120456, 61120611], [61121255, 61121464], [61124001, 61124185]]
ENST00000426130 [[61116225, 61117894], [61118462, 61118619], [61120456, 61120611], [61121255, 61121464], [61124001, 61124200], [61124674, 61124843], [61125204, 61125300], [61129204, 61129755]] [[61117870, 61117894], [61118462, 61118619], [61120456, 61120611], [61121255, 61121464], [61124001, 61124200], [61124674, 61124710]]
ENST00000540317 [[61116289, 61117115], [61118462, 61118619], [61120427, 61120611], [61121255, 61121464], [61129204, 61129385]] None
ENST00000447532 [[61116309, 61117115], [61118462, 61118619], [61120456, 61120611], [61121255, 61121464], [61124001, 61124200], [61125204, 61125300], [61129204, 61129385]] [[61117028, 61117115], [61118462, 61118619], [61120456, 61120611], [61121255, 61121464], [61124001, 61124185]]
ENST00000536452 [[61116361, 61117894], [61118462, 61118756]] None
ENST00000546151 [[61117118, 61120611], [61121255, 61121295], [61124001, 61124200], [61125204, 61125300], [61129204, 61129362]] [[61120547, 61120611], [61121255, 61121295], [61124001, 61124185]]
ENST00000540755 [[61117128, 61117894], [61118462, 61118619], [61120456, 61120611], [61124001, 61124200], [61125204, 61125300], [61129204, 61129325]] [[61120477, 61120611], [61124001, 61124185]]
ENST00000544118 [[61117312, 61117894], [61118462, 61118604], [61124001, 61124200], [61125204, 61125300], [61129204, 61129321]] [[61118473, 61118604], [61124001, 61124185]]
ENST00000536915 [[61117597, 61117894], [61118462, 61118619], [61120456, 61120611], [61121255, 61121464], [61124001, 61124200], [61124674, 61124751]] [[61117870, 61117894], [61118462, 61118619], [61120456, 61120611], [61121255, 61121464], [61124001, 61124185]]
ENST00000539890 [[61117751, 61117894], [61118462, 61118619], [61124001, 61124273]] [[61118473, 61118619], [61124001, 61124185]]
ENST00000540139 [[61118530, 61118619], [61120456, 61120611], [61121255, 61122213]] [[61118530, 61118619], [61120456, 61120611], [61121255, 61121384]]
ENST00000542361 [[61118568, 61118619], [61120456, 61120611], [61121255, 61121464], [61124001, 61124200], [61124783, 61124819]] [[61118568, 61118619], [61120456, 61120611], [61121255, 61121464], [61124001, 61124185]]
ENST00000537364 [[61120457, 61120611], [61121255, 61121464], [61124001, 61124200], [61125204, 61128736]] [[61120457, 61120611], [61121255, 61121464], [61124001, 61124185]]
ENST00000535177 [[61120577, 61121034], [61121255, 61121464], [61124001, 61124361]] None
ENST00000539128 [[61121302, 61121464], [61124001, 61124200], [61124674, 61124843], [61125204, 61125300], [61129204, 61129357]] [[61121302, 61121464], [61124001, 61124185]]
ENST00000538263 [[61121326, 61121464], [61123486, 61123560], [61124001, 61124200], [61125204, 61125300], [61129204, 61129312]] None
ENST00000542411 [[61123882, 61124200], [61125204, 61125300], [61129204, 61129348]] None
ENST00000536687 [[61123993, 61124200], [61129204, 61129743]] None
ENST00000545361 [[61124019, 61124200], [61125204, 61125300], [61126897, 61127043], [61129204, 61129354]] [[61124019, 61124185]]
ENST00000537680 [[61124099, 61124200], [61125204, 61125300], [61129204, 61129291], [61129478, 61129734]] [[61124099, 61124185]]
ENST00000535152 [[61124204, 61124256], [61125204, 61125300], [61129204, 61129720]] None
NM_001161452 [[61116219, 61117894], [61118462, 61118619], [61120456, 61120611], [61121255, 61121464], [61124001, 61124361]] [[61117870, 61117894], [61118462, 61118619], [61120456, 61120611], [61121255, 61121464], [61124001, 61124185]]
NM_001161454 [[61116219, 61117894], [61118462, 61118619], [61120456, 61120611], [61121255, 61121464], [61124001, 61124200], [61124674, 61124843], [61125204, 61125300], [61129204, 61129755]] [[61117870, 61117894], [61118462, 61118619], [61120456, 61120611], [61121255, 61121464], [61124001, 61124200], [61124674, 61124710]]
NM_153611 [[61116219, 61117894], [61118462, 61118619], [61120456, 61120611], [61121255, 61121464], [61124001, 61124200], [61125204, 61125300], [61129204, 61129755]] [[61117870, 61117894], [61118462, 61118619], [61120456, 61120611], [61121255, 61121464], [61124001, 61124185]]
NM_001300763 [[61116219, 61117115], [61118462, 61118619], [61120456, 61120611], [61121255, 61121464], [61124001, 61124200], [61125204, 61125300], [61129204, 61129755]] [[61117028, 61117115], [61118462, 61118619], [61120456, 61120611], [61121255, 61121464], [61124001, 61124185]]
Promoter
Chrom Start End Description
chr11 61124250 61124257 CAGE_peak_11_at_CYBASC3_5end
chr11 61124266 61124283 CAGE_peak_4_at_CYBASC3_5end
chr11 61124292 61124301 CAGE_peak_18_at_CYBASC3_5end
chr11 61124711 61124744 CAGE_peak_8_at_CYBASC3_5end
chr11 61124776 61124813 CAGE_peak_6_at_CYBASC3_5end
chr11 61129306 61129330 CAGE_peak_3_at_CYBASC3_5end
chr11 61129335 61129364 CAGE_peak_1_at_CYBASC3_5end
chr11 61129502 61129529 CAGE_peak_7_at_CYBASC3_5end
chr11 61129533 61129544 CAGE_peak_10_at_CYBASC3_5end
chr11 61129646 61129657 CAGE_peak_5_at_CYBASC3_5end
chr11 61129723 61129776 CAGE_peak_2_at_CYBASC3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I061826 61826073 61838665 2.77 [{'connected_gene': 'FADS2', 'score': 632.21}, {'connected_gene': 'MTA2', 'score': 16.23}, {'connected_gene': 'FADS1', 'score': 14.69}, {'connected_gene': 'TMEM138', 'score': 14.56}, {'connected_gene': 'EML3', 'score': 14.16}, {'connected_gene': 'STX5', 'score': 13.27}, {'connected_gene': 'CPSF7', 'score': 13.12}, {'connected_gene': 'NXF1', 'score': 12.41}, {'connected_gene': 'GANAB', 'score': 12.01}, {'connected_gene': 'TMEM179B', 'score': 11.85}, {'connected_gene': 'INTS5', 'score': 11.72}, {'connected_gene': 'CYB561A3', 'score': 11.46}, {'connected_gene': 'FADS3', 'score': 11.23}, {'connected_gene': 'CSKMT', 'score': 11.0}, {'connected_gene': 'LOC105369332', 'score': 10.41}, {'connected_gene': 'BEST1', 'score': 10.36}, {'connected_gene': 'TTC9C', 'score': 10.32}, {'connected_gene': 'UBXN1', 'score': 10.29}, {'connected_gene': 'POLR2G', 'score': 4.77}, {'connected_gene': 'FEN1', 'score': 2.15}, {'connected_gene': 'INCENP', 'score': 1.62}, {'connected_gene': 'PIR43939', 'score': 0.77}, {'connected_gene': 'MIR6746', 'score': 0.25}]
chr11 GH11I060909 60909359 60918120 2.74 [{'connected_gene': 'TMEM109', 'score': 555.54}, {'connected_gene': 'GC11M060911', 'score': 550.77}, {'connected_gene': 'LOC105369323', 'score': 550.77}, {'connected_gene': 'CD6', 'score': 12.23}, {'connected_gene': 'CD5', 'score': 10.42}, {'connected_gene': 'PRPF19', 'score': 9.11}, {'connected_gene': 'PTGDR2', 'score': 8.31}, {'connected_gene': 'SLC15A3', 'score': 5.32}, {'connected_gene': 'CYB561A3', 'score': 2.5}, {'connected_gene': 'VPS37C', 'score': 2.14}, {'connected_gene': 'ENSG00000257052', 'score': 0.44}, {'connected_gene': 'PIR49215', 'score': 0.44}, {'connected_gene': 'GC11P060908', 'score': 0.44}]
chr11 GH11I061693 61693679 61702169 2.14 [{'connected_gene': 'DAGLA', 'score': 567.51}, {'connected_gene': 'MYRF', 'score': 20.92}, {'connected_gene': 'DKFZP434K028', 'score': 19.36}, {'connected_gene': 'SYT7', 'score': 11.01}, {'connected_gene': 'FTH1', 'score': 9.15}, {'connected_gene': 'CYB561A3', 'score': 7.63}, {'connected_gene': 'VWCE', 'score': 4.66}, {'connected_gene': 'SDHAF2', 'score': 4.48}, {'connected_gene': 'DDB1', 'score': 4.33}, {'connected_gene': 'CPSF7', 'score': 4.26}, {'connected_gene': 'PIR41833', 'score': 0.25}]
chr11 GH11I061680 61679201 61679600 0.74 [{'connected_gene': 'DAGLA', 'score': 571.32}, {'connected_gene': 'FTH1', 'score': 5.08}, {'connected_gene': 'CPSF7', 'score': 3.68}, {'connected_gene': 'SDHAF2', 'score': 3.27}, {'connected_gene': 'CYB561A3', 'score': 3.0}, {'connected_gene': 'GC11M061648', 'score': 0.34}]
chr11 GH11I061688 61688330 61689600 1.21 [{'connected_gene': 'DAGLA', 'score': 12.5}, {'connected_gene': 'FTH1', 'score': 3.75}, {'connected_gene': 'CYB561A3', 'score': 2.82}, {'connected_gene': 'CPSF7', 'score': 2.31}, {'connected_gene': 'SDHAF2', 'score': 2.21}, {'connected_gene': 'PIR41833', 'score': 0.23}]
chr11 GH11I061715 61715801 61719600 1.46 [{'connected_gene': 'MYRF', 'score': 15.18}, {'connected_gene': 'DAGLA', 'score': 10.01}, {'connected_gene': 'FTH1', 'score': 2.51}, {'connected_gene': 'CPSF7', 'score': 2.03}, {'connected_gene': 'CYB561A3', 'score': 1.67}, {'connected_gene': 'SDHAF2', 'score': 1.5}, {'connected_gene': 'PIR41833', 'score': 0.31}]
chr11 GH11I061157 61157672 61165841 2.57 [{'connected_gene': 'VPS37C', 'score': 553.61}, {'connected_gene': 'CD5', 'score': 31.95}, {'connected_gene': 'CD6', 'score': 11.21}, {'connected_gene': 'SLC15A3', 'score': 9.43}, {'connected_gene': 'CYB561A3', 'score': 4.54}, {'connected_gene': 'SDHAF2', 'score': 2.69}, {'connected_gene': 'CPSF7', 'score': 2.66}, {'connected_gene': 'PTGDR2', 'score': 1.44}, {'connected_gene': 'GC11P061168', 'score': 0.44}]
chr11 GH11I061355 61355601 61364150 2.48 [{'connected_gene': 'TMEM138', 'score': 577.07}, {'connected_gene': 'CYB561A3', 'score': 550.77}, {'connected_gene': 'CPSF7', 'score': 31.52}, {'connected_gene': 'PRPF19', 'score': 13.88}, {'connected_gene': 'TMEM216', 'score': 13.0}, {'connected_gene': 'RN7SL23P', 'score': 12.96}, {'connected_gene': 'SDHAF2', 'score': 12.86}, {'connected_gene': 'VPS37C', 'score': 11.01}, {'connected_gene': 'TMEM109', 'score': 9.91}, {'connected_gene': 'ENSG00000279246', 'score': 0.44}]
chr11 GH11I060950 60950045 60954947 2.06 [{'connected_gene': 'SLC15A3', 'score': 569.06}, {'connected_gene': 'VPS37C', 'score': 12.39}, {'connected_gene': 'RNU6-933P', 'score': 11.56}, {'connected_gene': 'CPSF7', 'score': 11.12}, {'connected_gene': 'MS4A18', 'score': 9.23}, {'connected_gene': 'PTGDR2', 'score': 6.46}, {'connected_gene': 'PRPF19', 'score': 5.27}, {'connected_gene': 'MS4A2', 'score': 4.03}, {'connected_gene': 'CYB561A3', 'score': 2.25}, {'connected_gene': 'SDHAF2', 'score': 2.04}, {'connected_gene': 'GC11P060938', 'score': 0.39}]
chr11 GH11I061344 61344407 61350500 0.98 [{'connected_gene': 'TMEM216', 'score': 6.18}, {'connected_gene': 'SDHAF2', 'score': 5.32}, {'connected_gene': 'CYB561A3', 'score': 5.26}, {'connected_gene': 'LOC101927495', 'score': 4.5}, {'connected_gene': 'DDB1', 'score': 0.77}, {'connected_gene': 'ENSG00000279246', 'score': 0.77}, {'connected_gene': 'TKFC', 'score': 0.39}]
chr11 GH11I061327 61327302 61330563 0.38 [{'connected_gene': 'TMEM216', 'score': 11.1}, {'connected_gene': 'CYB561A3', 'score': 5.16}, {'connected_gene': 'PPP1R32', 'score': 4.27}, {'connected_gene': 'TKFC', 'score': 0.77}, {'connected_gene': 'DDB1', 'score': 0.39}, {'connected_gene': 'PIR45270', 'score': 0.31}]
chr11 GH11I061365 61365687 61371384 1.37 [{'connected_gene': 'TMEM216', 'score': 24.16}, {'connected_gene': 'DDB1', 'score': 12.45}, {'connected_gene': 'TKFC', 'score': 12.41}, {'connected_gene': 'GC11P061375', 'score': 0.44}, {'connected_gene': 'TMEM138', 'score': 0.44}, {'connected_gene': 'CYB561A3', 'score': 0.44}]
chr11 GH11I061330 61330929 61336958 2.28 [{'connected_gene': 'TKFC', 'score': 550.77}, {'connected_gene': 'DDB1', 'score': 550.44}, {'connected_gene': 'CPSF7', 'score': 16.63}, {'connected_gene': 'TMEM138', 'score': 14.16}, {'connected_gene': 'RN7SL23P', 'score': 11.9}, {'connected_gene': 'TMEM216', 'score': 11.11}, {'connected_gene': 'VPS37C', 'score': 10.33}, {'connected_gene': 'CYB561A3', 'score': 5.17}, {'connected_gene': 'MS4A14', 'score': 4.53}]
chr11 GH11I061307 61307425 61307930 0.41 [{'connected_gene': 'CYB561A3', 'score': 4.96}, {'connected_gene': 'SDHAF2', 'score': 4.64}, {'connected_gene': 'CD6', 'score': 1.41}, {'connected_gene': 'PIR45270', 'score': 0.44}, {'connected_gene': 'TKFC', 'score': 0.31}, {'connected_gene': 'DDB1', 'score': 0.29}]
chr11 GH11I061377 61377459 61380348 1.19 [{'connected_gene': 'DDB1', 'score': 12.5}, {'connected_gene': 'TKFC', 'score': 12.47}, {'connected_gene': 'DAGLA', 'score': 7.53}, {'connected_gene': 'CYB561A3', 'score': 7.23}, {'connected_gene': 'SDHAF2', 'score': 6.08}, {'connected_gene': 'VPS37C', 'score': 3.46}, {'connected_gene': 'CPSF7', 'score': 3.35}, {'connected_gene': 'SLC15A3', 'score': 3.05}, {'connected_gene': 'TMEM138', 'score': 1.44}, {'connected_gene': 'GC11P061375', 'score': 0.77}, {'connected_gene': 'TMEM216', 'score': 0.39}]
chr11 GH11I061167 61167147 61168218 1.42 [{'connected_gene': 'GC11P061168', 'score': 550.77}, {'connected_gene': 'CD5', 'score': 19.53}, {'connected_gene': 'SLC15A3', 'score': 5.66}, {'connected_gene': 'CYB561A3', 'score': 5.47}, {'connected_gene': 'CPSF7', 'score': 4.82}, {'connected_gene': 'SDHAF2', 'score': 4.08}, {'connected_gene': 'VPS37C', 'score': 4.03}, {'connected_gene': 'TMEM138', 'score': 1.3}, {'connected_gene': 'PGA3', 'score': 0.28}]
chr11 GH11I061353 61353152 61354597 0.95 [{'connected_gene': 'ENSG00000279246', 'score': 550.77}, {'connected_gene': 'TMEM138', 'score': 0.44}, {'connected_gene': 'CYB561A3', 'score': 0.44}, {'connected_gene': 'TKFC', 'score': 0.34}]
chr11 GH11I061356 61355201 61355400 0.4 [{'connected_gene': 'ENSG00000279246', 'score': 0.77}, {'connected_gene': 'TMEM138', 'score': 0.44}, {'connected_gene': 'CYB561A3', 'score': 0.44}]

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