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
ENST00000196371 [[41730166, 41731872], [41739491, 41739593], [41749628, 41749709], [41762212, 41762302], [41794104, 41794180], [41794778, 41794851], [41801123, 41801172], [41803170, 41803265], [41805668, 41805783], [41807432, 41807540], [41840552, 41840613], [41842776, 41842883], [41850131, 41850281], [41853520, 41853656], [41861415, 41861506], [41862743, 41862852], [41870382, 41870621]] [[41731830, 41731872], [41739491, 41739593], [41749628, 41749709], [41762212, 41762302], [41794104, 41794180], [41794778, 41794851], [41801123, 41801172], [41803170, 41803265], [41805668, 41805783], [41807432, 41807540], [41840552, 41840613], [41842776, 41842883], [41850131, 41850281], [41853520, 41853656], [41861415, 41861506], [41862743, 41862852], [41870382, 41870460]]
ENST00000509987 [[41731471, 41731872], [41739491, 41739593], [41749628, 41749709], [41762212, 41762302], [41794104, 41794180], [41794778, 41794851], [41801123, 41801172], [41803170, 41803265], [41805668, 41805783], [41807432, 41807540], [41840552, 41840613], [41842776, 41842883], [41843676, 41843759]] [[41731830, 41731872], [41739491, 41739593], [41749628, 41749709], [41762212, 41762302], [41794104, 41794180], [41794778, 41794851], [41801123, 41801172], [41803170, 41803265], [41805668, 41805783], [41807432, 41807540], [41840552, 41840613], [41842776, 41842883], [41843676, 41843682]]
ENST00000514723 [[41749702, 41749709], [41762212, 41762302], [41840552, 41840613], [41842776, 41842859]] None
ENST00000512084 [[41730842, 41731872], [41739491, 41739593], [41749628, 41749709], [41762212, 41762302], [41794104, 41794180], [41794268, 41794482]] [[41731830, 41731872], [41739491, 41739593], [41749628, 41749709], [41762212, 41762302], [41794104, 41794161]]
ENST00000510634 [[41730942, 41731872], [41739491, 41739593], [41749628, 41749709], [41762212, 41762302], [41794104, 41794180], [41794523, 41794685]] [[41731830, 41731872], [41739491, 41739593], [41749628, 41749709], [41762212, 41762302], [41794104, 41794161]]
ENST00000508557 [[41731682, 41731872], [41739491, 41739593], [41749628, 41749709], [41762212, 41762302], [41794104, 41794237]] None
ENST00000503374 [[41731840, 41731872], [41739491, 41739823]] None
ENST00000513081 [[41749628, 41749709], [41762212, 41762302], [41794104, 41794180], [41794642, 41794745]] None
NM_000436 [[41730166, 41731872], [41739491, 41739593], [41749628, 41749709], [41762212, 41762302], [41794104, 41794180], [41794778, 41794851], [41801123, 41801172], [41803170, 41803265], [41805668, 41805783], [41807432, 41807540], [41840552, 41840613], [41842776, 41842883], [41850131, 41850281], [41853520, 41853656], [41861415, 41861506], [41862743, 41862852], [41870382, 41870791]] [[41731830, 41731872], [41739491, 41739593], [41749628, 41749709], [41762212, 41762302], [41794104, 41794180], [41794778, 41794851], [41801123, 41801172], [41803170, 41803265], [41805668, 41805783], [41807432, 41807540], [41840552, 41840613], [41842776, 41842883], [41850131, 41850281], [41853520, 41853656], [41861415, 41861506], [41862743, 41862852], [41870382, 41870460]]
Promoter
Chrom Start End Description
chr5 41794313 41794348 CAGE_peak_14_at_OXCT1_5end
chr5 41794663 41794702 CAGE_peak_7_at_OXCT1_5end
chr5 41870475 41870494 CAGE_peak_2_at_OXCT1_5end
chr5 41870495 41870512 CAGE_peak_4_at_OXCT1_5end
chr5 41870518 41870535 CAGE_peak_1_at_OXCT1_5end
chr5 41870568 41870569 CAGE_peak_6_at_OXCT1_5end
chr5 41870593 41870606 CAGE_peak_3_at_OXCT1_5end
chr5 41870631 41870644 CAGE_peak_5_at_OXCT1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I041656 41656238 41657259 0.38 [{'connected_gene': 'OXCT1', 'score': 8.69}, {'connected_gene': 'TCP1P2', 'score': 0.2}, {'connected_gene': 'GC05M041733', 'score': 0.18}]
chr5 GH05I041908 41908301 41909229 0.31 [{'connected_gene': 'OXCT1', 'score': 12.38}, {'connected_gene': 'C5orf51', 'score': 0.77}, {'connected_gene': 'PIR36450', 'score': 0.39}, {'connected_gene': 'GC05P041926', 'score': 0.39}]
chr5 GH05I042359 42359931 42361748 0.38 [{'connected_gene': 'OXCT1', 'score': 5.11}, {'connected_gene': 'GC05M042277', 'score': 0.25}, {'connected_gene': 'GHR', 'score': 0.21}]
chr5 GH05I041844 41844939 41844953 0.35 [{'connected_gene': 'OXCT1', 'score': 3.87}, {'connected_gene': 'FBXO4', 'score': 1.32}, {'connected_gene': 'LOC102723752', 'score': 0.34}, {'connected_gene': 'GC05M041733', 'score': 0.14}]
chr5 GH05I041869 41869015 41871603 1.99 [{'connected_gene': 'OXCT1', 'score': 556.04}, {'connected_gene': 'LOC102723752', 'score': 550.77}, {'connected_gene': 'OXCT1-AS1', 'score': 550.77}, {'connected_gene': 'FBXO4', 'score': 20.72}, {'connected_gene': 'C5orf51', 'score': 11.54}]
chr5 GH05I041792 41792349 41796476 1.11 [{'connected_gene': 'OXCT1', 'score': 4.76}, {'connected_gene': 'GC05M041733', 'score': 0.21}, {'connected_gene': 'LOC102723752', 'score': 0.19}]
chr5 GH05I041788 41788349 41790135 0.87 [{'connected_gene': 'OXCT1', 'score': 4.42}, {'connected_gene': 'GC05M041733', 'score': 0.22}, {'connected_gene': 'LOC102723752', 'score': 0.18}]
chr5 GH05I041834 41834568 41836907 0.82 [{'connected_gene': 'OXCT1', 'score': 4.84}, {'connected_gene': 'LOC102723752', 'score': 0.29}, {'connected_gene': 'GC05M041733', 'score': 0.15}]
chr5 GH05I041826 41826631 41826653 0.24 [{'connected_gene': 'OXCT1', 'score': 0.26}, {'connected_gene': 'LOC102723752', 'score': 0.26}, {'connected_gene': 'GC05M041733', 'score': 0.16}]
chr5 GH05I041871 41871697 41872048 0.89 [{'connected_gene': 'OXCT1', 'score': 550.77}, {'connected_gene': 'OXCT1-AS1', 'score': 550.77}, {'connected_gene': 'C5orf51', 'score': 11.54}, {'connected_gene': 'FBXO4', 'score': 10.79}, {'connected_gene': 'LOC102723752', 'score': 0.77}, {'connected_gene': 'RPS2P22', 'score': 0.34}]
chr5 GH05I042530 42530019 42532909 0.31 [{'connected_gene': 'GHR', 'score': 7.13}, {'connected_gene': 'OXCT1', 'score': 4.11}, {'connected_gene': 'GC05P042548', 'score': 0.37}, {'connected_gene': 'GC05P042485', 'score': 0.25}, {'connected_gene': 'GC05P042487', 'score': 0.25}]
chr5 GH05I041924 41924200 41926341 2.1 [{'connected_gene': 'FBXO4', 'score': 561.44}, {'connected_gene': 'OXCT1', 'score': 12.2}, {'connected_gene': 'RPSAP38', 'score': 0.31}]
chr5 GH05I041856 41856759 41856928 0.9 [{'connected_gene': 'FBXO4', 'score': 10.99}, {'connected_gene': 'C5orf51', 'score': 10.69}, {'connected_gene': 'OXCT1', 'score': 0.39}, {'connected_gene': 'LOC102723752', 'score': 0.39}, {'connected_gene': 'GC05M041733', 'score': 0.13}]
chr5 GH05I041921 41921021 41921958 0.57 [{'connected_gene': 'LOC100419715', 'score': 550.77}, {'connected_gene': 'PIR60775', 'score': 550.77}, {'connected_gene': 'GC05P041927', 'score': 550.77}, {'connected_gene': 'OXCT1', 'score': 18.13}, {'connected_gene': 'OXCT1-AS1', 'score': 10.75}, {'connected_gene': 'FBXO4', 'score': 0.77}, {'connected_gene': 'C5orf51', 'score': 0.37}]
chr5 GH05I041922 41922000 41922201 0.46 [{'connected_gene': 'LOC100419715', 'score': 550.77}, {'connected_gene': 'PIR60775', 'score': 550.77}, {'connected_gene': 'GC05P041927', 'score': 550.77}, {'connected_gene': 'OXCT1', 'score': 10.75}, {'connected_gene': 'OXCT1-AS1', 'score': 10.75}, {'connected_gene': 'FBXO4', 'score': 0.77}]
chr5 GH05I042518 42518471 42520000 0.58 [{'connected_gene': 'CCDC152', 'score': 5.22}, {'connected_gene': 'OXCT1', 'score': 4.57}, {'connected_gene': 'GC05P042548', 'score': 0.31}, {'connected_gene': 'GC05P042485', 'score': 0.29}, {'connected_gene': 'GC05P042487', 'score': 0.29}, {'connected_gene': 'GHR', 'score': 0.15}]
chr5 GH05I042720 42720201 42721250 0.38 [{'connected_gene': 'CCDC152', 'score': 7.74}, {'connected_gene': 'GHR', 'score': 5.61}, {'connected_gene': 'OXCT1', 'score': 4.59}, {'connected_gene': 'PIR62948', 'score': 0.44}, {'connected_gene': 'GC05M042543', 'score': 0.14}]
chr5 GH05I041762 41762503 41764112 0.79 [{'connected_gene': 'GC05M041733', 'score': 0.31}, {'connected_gene': 'OXCT1', 'score': 0.14}, {'connected_gene': 'LOC102723752', 'score': 0.14}]
chr5 GH05I041748 41748839 41748848 0.72 [{'connected_gene': 'GC05M041733', 'score': 0.39}, {'connected_gene': 'LOC102723752', 'score': 0.13}, {'connected_gene': 'OXCT1', 'score': 0.13}]