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
ENST00000273130 [[32567462, 32568400], [32569937, 32570093], [32571031, 32571152], [32571775, 32571820], [32571952, 32572012], [32574477, 32574589], [32576002, 32576138], [32578502, 32578596], [32582528, 32582698], [32586367, 32586598], [32587340, 32587457], [32611837, 32611911], [32612116, 32612366]] [[32568290, 32568400], [32569937, 32570093], [32571031, 32571152], [32571775, 32571820], [32571952, 32572012], [32574477, 32574589], [32576002, 32576138], [32578502, 32578596], [32582528, 32582698], [32586367, 32586598], [32587340, 32587457], [32611837, 32611911], [32612116, 32612262]]
ENST00000481915 [[32567591, 32568400], [32569937, 32570093], [32571031, 32571152], [32571775, 32574589], [32576002, 32576138], [32578502, 32578596], [32582528, 32582698], [32586367, 32586598], [32587340, 32587457], [32611837, 32611911], [32612116, 32612185]] None
ENST00000432458 [[32567775, 32568400], [32569937, 32570093], [32571031, 32571152], [32571775, 32571820], [32571952, 32572012], [32574477, 32574589], [32576002, 32576138], [32578502, 32578596], [32582528, 32582698], [32611837, 32611911], [32612116, 32612350]] [[32568290, 32568400], [32569937, 32570093], [32571031, 32571152], [32571775, 32571820], [32571952, 32572012], [32574477, 32574589], [32576002, 32576138], [32578502, 32578596], [32582528, 32582698], [32611837, 32611911], [32612116, 32612262]]
ENST00000472985 [[32571121, 32571152], [32571775, 32571820], [32571952, 32572012], [32574477, 32574589], [32576002, 32576138], [32578502, 32578764]] None
ENST00000413350 [[32582543, 32582698], [32586367, 32586598], [32587340, 32587457], [32611632, 32611745]] [[32582543, 32582698], [32586367, 32586598], [32587340, 32587457], [32611632, 32611699]]
ENST00000424991 [[32586480, 32586598], [32587340, 32587457], [32608104, 32608227], [32611837, 32611911], [32612116, 32612350]] [[32586480, 32586598], [32587340, 32587457], [32608104, 32608227], [32611837, 32611911], [32612116, 32612262]]
ENST00000475193 [[32586918, 32587457], [32611837, 32611911], [32612116, 32612317]] None
ENST00000474077 [[32587365, 32587457], [32611837, 32612350]] None
NM_016141 [[32567462, 32568400], [32569937, 32570093], [32571031, 32571152], [32571775, 32571820], [32571952, 32572012], [32574477, 32574589], [32576002, 32576138], [32578502, 32578596], [32582528, 32582698], [32586367, 32586598], [32587340, 32587457], [32611837, 32611911], [32612116, 32612366]] [[32568290, 32568400], [32569937, 32570093], [32571031, 32571152], [32571775, 32571820], [32571952, 32572012], [32574477, 32574589], [32576002, 32576138], [32578502, 32578596], [32582528, 32582698], [32586367, 32586598], [32587340, 32587457], [32611837, 32611911], [32612116, 32612262]]
NM_001329135 [[32567462, 32568400], [32569937, 32570093], [32571031, 32571152], [32571775, 32571820], [32571952, 32572012], [32574477, 32574589], [32576002, 32576138], [32578502, 32578596], [32582528, 32582698], [32611837, 32611911], [32612116, 32612416]] [[32568290, 32568400], [32569937, 32570093], [32571031, 32571152], [32571775, 32571820], [32571952, 32572012], [32574477, 32574589], [32576002, 32576138], [32578502, 32578596], [32582528, 32582698], [32611837, 32611911], [32612116, 32612262]]
Promoter
Chrom Start End Description
chr3 32612263 32612356 CAGE_peak_1_at_DYNC1LI1_5end
chr3 32612378 32612389 CAGE_peak_2_at_DYNC1LI1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I032800 32800141 32800909 0.56 [{'connected_gene': 'SUGT1P2', 'score': 11.55}, {'connected_gene': 'CNOT10-AS1', 'score': 11.51}, {'connected_gene': 'CNOT10', 'score': 11.43}, {'connected_gene': 'DYNC1LI1', 'score': 9.92}, {'connected_gene': 'GC03P032812', 'score': 0.39}, {'connected_gene': 'RPL23AP43', 'score': 0.37}, {'connected_gene': 'GC03M032797', 'score': 0.15}]
chr3 GH03I032497 32497801 32499000 1.04 [{'connected_gene': 'CMTM6', 'score': 18.64}, {'connected_gene': 'DYNC1LI1', 'score': 10.78}, {'connected_gene': 'CNOT10', 'score': 10.13}, {'connected_gene': 'SUGT1P2', 'score': 10.12}, {'connected_gene': 'CNOT10-AS1', 'score': 10.12}, {'connected_gene': 'GC03P032466', 'score': 0.29}]
chr3 GH03I032483 32483733 32485360 0.92 [{'connected_gene': 'CMTM6', 'score': 15.22}, {'connected_gene': 'DYNC1LI1', 'score': 10.53}, {'connected_gene': 'GC03P032466', 'score': 0.37}]
chr3 GH03I032487 32487580 32489035 0.31 [{'connected_gene': 'CMTM6', 'score': 19.26}, {'connected_gene': 'DYNC1LI1', 'score': 10.57}, {'connected_gene': 'GC03P032466', 'score': 0.34}]
chr3 GH03I032430 32430802 32434111 1.42 [{'connected_gene': 'CMTM6', 'score': 15.5}, {'connected_gene': 'RPL31P18', 'score': 11.07}, {'connected_gene': 'DYNC1LI1', 'score': 10.47}, {'connected_gene': 'CMTM7', 'score': 8.78}, {'connected_gene': 'GC03M031988', 'score': 0.31}, {'connected_gene': 'GC03P032466', 'score': 0.29}]
chr3 GH03I032481 32481577 32483190 0.49 [{'connected_gene': 'CMTM6', 'score': 17.97}, {'connected_gene': 'RPL31P18', 'score': 11.53}, {'connected_gene': 'DYNC1LI1', 'score': 10.78}, {'connected_gene': 'GC03P032466', 'score': 0.37}, {'connected_gene': 'CMTM7', 'score': 0.16}]
chr3 GH03I032480 32480427 32481553 0.31 [{'connected_gene': 'CMTM6', 'score': 11.56}, {'connected_gene': 'RPL31P18', 'score': 11.53}, {'connected_gene': 'DYNC1LI1', 'score': 10.78}, {'connected_gene': 'CMTM7', 'score': 5.68}, {'connected_gene': 'GC03P032466', 'score': 0.39}]
chr3 GH03I032501 32501005 32503675 2.24 [{'connected_gene': 'CMTM6', 'score': 566.72}, {'connected_gene': 'CNOT10', 'score': 32.83}, {'connected_gene': 'UBP1', 'score': 11.46}, {'connected_gene': 'DYNC1LI1', 'score': 10.65}, {'connected_gene': 'SUGT1P2', 'score': 10.12}, {'connected_gene': 'CNOT10-AS1', 'score': 10.12}, {'connected_gene': 'GC03P032466', 'score': 0.28}]
chr3 GH03I032596 32596444 32598055 0.77 [{'connected_gene': 'DYNC1LI1', 'score': 17.94}, {'connected_gene': 'RPL31P18', 'score': 11.23}, {'connected_gene': 'CMTM6', 'score': 11.22}, {'connected_gene': 'CNOT10', 'score': 11.05}, {'connected_gene': 'CNOT10-AS1', 'score': 10.57}, {'connected_gene': 'SUGT1P2', 'score': 10.56}, {'connected_gene': 'ENSG00000226955', 'score': 0.77}, {'connected_gene': 'PIR37638', 'score': 0.44}, {'connected_gene': 'GC03P032571', 'score': 0.31}]
chr3 GH03I032499 32499601 32499800 0.51 [{'connected_gene': 'DYNC1LI1', 'score': 10.64}, {'connected_gene': 'CNOT10', 'score': 10.13}, {'connected_gene': 'SUGT1P2', 'score': 10.12}, {'connected_gene': 'CNOT10-AS1', 'score': 10.12}, {'connected_gene': 'CMTM6', 'score': 0.77}, {'connected_gene': 'GC03P032466', 'score': 0.29}]
chr3 GH03I032661 32661996 32663498 0.43 [{'connected_gene': 'DYNC1LI1', 'score': 5.94}, {'connected_gene': 'CNOT10', 'score': 0.34}, {'connected_gene': 'RPL30P4', 'score': 0.31}]
chr3 GH03I032794 32794166 32795543 0.84 [{'connected_gene': 'DYNC1LI1', 'score': 14.47}, {'connected_gene': 'TRIM71', 'score': 12.91}, {'connected_gene': 'SUGT1P2', 'score': 11.56}, {'connected_gene': 'CNOT10-AS1', 'score': 11.52}, {'connected_gene': 'CNOT10', 'score': 11.44}, {'connected_gene': 'RPL23AP43', 'score': 0.39}, {'connected_gene': 'GC03P032812', 'score': 0.37}]
chr3 GH03I032427 32427049 32429336 1.04 [{'connected_gene': 'RPL31P18', 'score': 11.07}, {'connected_gene': 'CMTM6', 'score': 11.07}, {'connected_gene': 'DYNC1LI1', 'score': 10.47}, {'connected_gene': 'CMTM7', 'score': 5.71}, {'connected_gene': 'GC03M031988', 'score': 0.34}, {'connected_gene': 'GC03P032466', 'score': 0.28}]
chr3 GH03I032477 32477352 32478982 0.31 [{'connected_gene': 'RPL31P18', 'score': 11.53}, {'connected_gene': 'CMTM6', 'score': 11.53}, {'connected_gene': 'DYNC1LI1', 'score': 10.77}, {'connected_gene': 'CMTM7', 'score': 5.68}, {'connected_gene': 'GC03P032466', 'score': 0.39}]
chr3 GH03I032472 32472557 32473400 0.58 [{'connected_gene': 'RPL31P18', 'score': 11.53}, {'connected_gene': 'CMTM6', 'score': 11.53}, {'connected_gene': 'DYNC1LI1', 'score': 10.76}, {'connected_gene': 'GC03P032466', 'score': 0.44}, {'connected_gene': 'CMTM7', 'score': 0.18}]
chr3 GH03I032684 32684049 32687361 2.06 [{'connected_gene': 'CNOT10', 'score': 575.49}, {'connected_gene': 'GLB1', 'score': 24.72}, {'connected_gene': 'TMPPE', 'score': 20.47}, {'connected_gene': 'UBP1', 'score': 11.03}, {'connected_gene': 'DYNC1LI1', 'score': 10.26}, {'connected_gene': 'RPL31P18', 'score': 10.15}, {'connected_gene': 'CMTM6', 'score': 10.15}, {'connected_gene': 'ENSG00000236732', 'score': 9.94}, {'connected_gene': 'TRIM71', 'score': 9.5}, {'connected_gene': 'PIR58788', 'score': 0.37}]
chr3 GH03I032835 32835123 32845554 1.32 [{'connected_gene': 'TRIM71', 'score': 12.84}, {'connected_gene': 'SUGT1P2', 'score': 10.74}, {'connected_gene': 'CNOT10-AS1', 'score': 10.72}, {'connected_gene': 'CNOT10', 'score': 10.68}, {'connected_gene': 'DYNC1LI1', 'score': 9.52}, {'connected_gene': 'PIR32571', 'score': 0.29}, {'connected_gene': 'GC03M032797', 'score': 0.21}]
chr3 GH03I032859 32859537 32860498 0.31 [{'connected_gene': 'TRIM71', 'score': 11.85}, {'connected_gene': 'SUGT1P2', 'score': 11.29}, {'connected_gene': 'CNOT10-AS1', 'score': 11.27}, {'connected_gene': 'CNOT10', 'score': 11.24}, {'connected_gene': 'DYNC1LI1', 'score': 8.99}, {'connected_gene': 'PIR32571', 'score': 0.37}, {'connected_gene': 'GC03M032797', 'score': 0.26}]
chr3 GH03I032418 32418885 32425681 1.61 [{'connected_gene': 'CMTM7', 'score': 17.12}, {'connected_gene': 'CMTM6', 'score': 11.68}, {'connected_gene': 'CNOT10', 'score': 11.08}, {'connected_gene': 'RPL31P18', 'score': 10.4}, {'connected_gene': 'DYNC1LI1', 'score': 10.02}, {'connected_gene': 'GC03M031988', 'score': 0.37}, {'connected_gene': 'GC03P032466', 'score': 0.26}]
chr3 GH03I032390 32390851 32395164 2.27 [{'connected_gene': 'CMTM7', 'score': 572.41}, {'connected_gene': 'DYNC1LI1', 'score': 9.46}, {'connected_gene': 'GC03M031988', 'score': 0.39}]
chr3 GH03I032603 32603014 32603704 0.38 [{'connected_gene': 'PIR37638', 'score': 550.77}, {'connected_gene': 'DYNC1LI1', 'score': 11.85}, {'connected_gene': 'RPL31P18', 'score': 11.17}, {'connected_gene': 'CMTM6', 'score': 11.17}, {'connected_gene': 'CNOT10', 'score': 10.63}, {'connected_gene': 'CNOT10-AS1', 'score': 10.57}, {'connected_gene': 'SUGT1P2', 'score': 10.57}, {'connected_gene': 'IGBP1P3', 'score': 0.37}, {'connected_gene': 'GC03P032571', 'score': 0.29}]
chr3 GH03I032592 32592109 32592218 0.38 [{'connected_gene': 'ENSG00000226955', 'score': 550.77}, {'connected_gene': 'DYNC1LI1', 'score': 12.26}, {'connected_gene': 'RPL31P18', 'score': 11.24}, {'connected_gene': 'CMTM6', 'score': 11.23}, {'connected_gene': 'GC03P032571', 'score': 0.34}]
chr3 GH03I032569 32569200 32571958 2.02 [{'connected_gene': 'GC03P032571', 'score': 550.77}, {'connected_gene': 'DYNC1LI1', 'score': 550.77}, {'connected_gene': 'CNOT10', 'score': 31.41}, {'connected_gene': 'UBP1', 'score': 11.46}, {'connected_gene': 'GC03M032561', 'score': 0.77}]