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
ENST00000434258 [[158323253, 158323316], [158324166, 158324463], [158325089, 158325359], [158325616, 158326490]] [[158323264, 158323316], [158324166, 158324463], [158325089, 158325359], [158325616, 158326020]]
ENST00000444681 [[158323485, 158323836], [158325089, 158325359], [158325616, 158325895], [158326287, 158326381], [158326517, 158327343]] [[158323778, 158323836], [158325089, 158325359], [158325616, 158325895], [158326287, 158326381], [158326517, 158326686]]
ENST00000368167 [[158323539, 158323836], [158324166, 158324463], [158325089, 158325359], [158325616, 158325895], [158326287, 158326381], [158326517, 158326738]] [[158323778, 158323836], [158324166, 158324463], [158325089, 158325359], [158325616, 158325895], [158326287, 158326381], [158326517, 158326686]]
ENST00000452291 [[158323633, 158323836], [158325616, 158325895], [158326287, 158326381], [158326517, 158326686]] [[158323778, 158323836], [158325616, 158325895], [158326287, 158326381], [158326517, 158326686]]
ENST00000368165 [[158323672, 158323836], [158324166, 158324463], [158325616, 158325895], [158326287, 158326381], [158326517, 158326686]] [[158323778, 158323836], [158324166, 158324463], [158325616, 158325895], [158326287, 158326381], [158326517, 158326686]]
ENST00000368166 [[158323674, 158323836], [158325616, 158325895], [158326287, 158326381], [158326553, 158327289]] [[158323778, 158323836], [158325616, 158325895], [158326287, 158326381], [158326553, 158326686]]
ENST00000368163 [[158323699, 158323836], [158324166, 158324463], [158325089, 158325359], [158325616, 158325730], [158326287, 158326381], [158326553, 158327319]] [[158323778, 158323836], [158324166, 158324463], [158325089, 158325359], [158325616, 158325730], [158326287, 158326381], [158326553, 158326686]]
ENST00000368164 [[158323705, 158323836], [158325616, 158325791], [158326287, 158326381], [158326517, 158326986]] [[158323778, 158323836], [158325616, 158325791], [158326287, 158326360]]
ENST00000368154 [[158323778, 158323836], [158325616, 158325730], [158326287, 158326381], [158326517, 158326686]] [[158323778, 158323836], [158325616, 158325730], [158326287, 158326381], [158326517, 158326686]]
ENST00000368156 [[158323778, 158323836], [158324166, 158324463], [158325616, 158325895], [158326287, 158326381], [158326553, 158326686]] [[158323778, 158323836], [158324166, 158324463], [158325616, 158325895], [158326287, 158326381], [158326553, 158326686]]
ENST00000368155 [[158323778, 158323836], [158324166, 158324463], [158325616, 158325730], [158326287, 158326381], [158326553, 158326686]] [[158323778, 158323836], [158324166, 158324463], [158325616, 158325730], [158326287, 158326381], [158326553, 158326686]]
ENST00000368157 [[158323778, 158323836], [158325616, 158325730], [158326287, 158326381], [158326553, 158326686]] [[158323778, 158323836], [158325616, 158325730], [158326287, 158326381], [158326553, 158326686]]
ENST00000368160 [[158323778, 158323836], [158324166, 158324463], [158325089, 158325359], [158325616, 158325895], [158326287, 158326381], [158326553, 158327282]] [[158323778, 158323836], [158324166, 158324463], [158325089, 158325359], [158325616, 158325895], [158326287, 158326381], [158326553, 158326686]]
ENST00000368161 [[158323778, 158323836], [158324166, 158324463], [158325089, 158325359], [158325616, 158325791], [158326287, 158326381], [158326517, 158327312]] [[158323778, 158323836], [158324166, 158324463], [158325089, 158325359], [158325616, 158325791], [158326287, 158326360]]
ENST00000464822 [[158323969, 158324055], [158325089, 158325128]] None
ENST00000368162 [[158325683, 158325791], [158326287, 158326381], [158326553, 158327287]] [[158325683, 158325791], [158326287, 158326360]]
NM_001185110 [[158323485, 158323836], [158325616, 158325730], [158326287, 158326381], [158326553, 158327343]] [[158323778, 158323836], [158325616, 158325730], [158326287, 158326381], [158326553, 158326686]]
NM_001185113 [[158323485, 158323836], [158325616, 158325730], [158326287, 158326381], [158326517, 158327343]] [[158323778, 158323836], [158325616, 158325730], [158326287, 158326381], [158326517, 158326686]]
NM_001042587 [[158323485, 158323836], [158325616, 158325791], [158326287, 158326381], [158326517, 158327343]] [[158323778, 158323836], [158325616, 158325791], [158326287, 158326360]]
NM_001042586 [[158323485, 158323836], [158325616, 158325895], [158326287, 158326381], [158326553, 158327343]] [[158323778, 158323836], [158325616, 158325895], [158326287, 158326381], [158326553, 158326686]]
NM_001185112 [[158323485, 158323836], [158325616, 158325895], [158326287, 158326381], [158326517, 158327343]] [[158323778, 158323836], [158325616, 158325895], [158326287, 158326381], [158326517, 158326686]]
NM_001185114 [[158323485, 158323836], [158325089, 158325359], [158325616, 158325895], [158326287, 158326381], [158326517, 158327343]] [[158323778, 158323836], [158325089, 158325359], [158325616, 158325895], [158326287, 158326381], [158326517, 158326686]]
NM_001185108 [[158323485, 158323836], [158324166, 158324463], [158325616, 158325730], [158326287, 158326381], [158326553, 158327343]] [[158323778, 158323836], [158324166, 158324463], [158325616, 158325730], [158326287, 158326381], [158326553, 158326686]]
NM_001185115 [[158323485, 158323836], [158324166, 158324463], [158325616, 158325895], [158326287, 158326381], [158326553, 158327343]] [[158323778, 158323836], [158324166, 158324463], [158325616, 158325895], [158326287, 158326381], [158326553, 158326686]]
NM_001185107 [[158323485, 158323836], [158324166, 158324463], [158325616, 158325895], [158326287, 158326381], [158326517, 158327343]] [[158323778, 158323836], [158324166, 158324463], [158325616, 158325895], [158326287, 158326381], [158326517, 158326686]]
NM_001042585 [[158323485, 158323836], [158324166, 158324463], [158325089, 158325359], [158325616, 158325730], [158326287, 158326381], [158326553, 158327343]] [[158323778, 158323836], [158324166, 158324463], [158325089, 158325359], [158325616, 158325730], [158326287, 158326381], [158326553, 158326686]]
NM_001042584 [[158323485, 158323836], [158324166, 158324463], [158325089, 158325359], [158325616, 158325791], [158326287, 158326381], [158326517, 158327343]] [[158323778, 158323836], [158324166, 158324463], [158325089, 158325359], [158325616, 158325791], [158326287, 158326360]]
NM_001042583 [[158323485, 158323836], [158324166, 158324463], [158325089, 158325359], [158325616, 158325895], [158326287, 158326381], [158326553, 158327343]] [[158323778, 158323836], [158324166, 158324463], [158325089, 158325359], [158325616, 158325895], [158326287, 158326381], [158326553, 158326686]]
NM_030893 [[158323485, 158323836], [158324166, 158324463], [158325089, 158325359], [158325616, 158325895], [158326287, 158326381], [158326517, 158327343]] [[158323778, 158323836], [158324166, 158324463], [158325089, 158325359], [158325616, 158325895], [158326287, 158326381], [158326517, 158326686]]
Promoter
Chrom Start End Description
chr1 158322941 158322963 CAGE_peak_20_at_CD1E_5end
chr1 158323055 158323063 CAGE_peak_28_at_CD1E_5end
chr1 158323158 158323175 CAGE_peak_13_at_CD1E_5end
chr1 158323183 158323188 CAGE_peak_21_at_CD1E_5end
chr1 158323215 158323229 CAGE_peak_18_at_CD1E_5end
chr1 158323244 158323269 CAGE_peak_3_at_CD1E_5end
chr1 158323271 158323294 CAGE_peak_7_at_CD1E_5end
chr1 158323296 158323301 CAGE_peak_17_at_CD1E_5end
chr1 158323304 158323324 CAGE_peak_9_at_CD1E_5end
chr1 158323344 158323347 CAGE_peak_35_at_CD1E_5end
chr1 158323376 158323381 CAGE_peak_24_at_CD1E_5end
chr1 158323491 158323497 CAGE_peak_25_at_CD1E_5end
chr1 158323605 158323616 CAGE_peak_4_at_CD1E_5end
chr1 158323639 158323693 CAGE_peak_1_at_CD1E_5end
chr1 158323755 158323764 CAGE_peak_5_at_CD1E_5end
chr1 158323920 158323926 CAGE_peak_23_at_CD1E_5end
chr1 158323949 158323968 CAGE_peak_14_at_CD1E_5end
chr1 158324625 158324644 CAGE_peak_10_at_CD1E_5end
chr1 158324656 158324678 CAGE_peak_2_at_CD1E_5end
chr1 158324697 158324709 CAGE_peak_8_at_CD1E_5end
chr1 158324726 158324737 CAGE_peak_11_at_CD1E_5end
chr1 158325287 158325302 CAGE_peak_6_at_CD1E_5end
chr1 158325422 158325433 CAGE_peak_16_at_CD1E_5end
chr1 158325748 158325765 CAGE_peak_12_at_CD1E_5end
chr1 158326285 158326296 CAGE_peak_15_at_CD1E_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I158271 158271700 158275823 0.52 [{'connected_gene': 'CD1A', 'score': 11.99}, {'connected_gene': 'CD1E', 'score': 5.11}, {'connected_gene': 'HMGN1P5', 'score': 0.44}, {'connected_gene': 'GC01P158286', 'score': 0.39}]
chr1 GH01I158271 158271700 158275823 0.52 [{'connected_gene': 'CD1A', 'score': 11.99}, {'connected_gene': 'CD1E', 'score': 5.11}, {'connected_gene': 'HMGN1P5', 'score': 0.44}, {'connected_gene': 'GC01P158286', 'score': 0.39}]
chr1 GH01I158247 158247601 158249800 1.3 [{'connected_gene': 'CD1A', 'score': 550.77}, {'connected_gene': 'CD1C', 'score': 14.02}, {'connected_gene': 'CD1E', 'score': 5.94}, {'connected_gene': 'CD1D', 'score': 4.5}, {'connected_gene': 'CD1B', 'score': 3.81}, {'connected_gene': 'OR10T2', 'score': 2.31}, {'connected_gene': 'GC01P158261', 'score': 0.44}, {'connected_gene': 'GC01P158260', 'score': 0.44}]
chr1 GH01I158247 158247601 158249800 1.3 [{'connected_gene': 'CD1A', 'score': 550.77}, {'connected_gene': 'CD1C', 'score': 14.02}, {'connected_gene': 'CD1E', 'score': 5.94}, {'connected_gene': 'CD1D', 'score': 4.5}, {'connected_gene': 'CD1B', 'score': 3.81}, {'connected_gene': 'OR10T2', 'score': 2.31}, {'connected_gene': 'GC01P158261', 'score': 0.44}, {'connected_gene': 'GC01P158260', 'score': 0.44}]
chr1 GH01I158327 158327609 158327734 0.42 [{'connected_gene': 'CD1E', 'score': 7.92}, {'connected_gene': 'CD1B', 'score': 7.4}, {'connected_gene': 'CD1C', 'score': 4.31}, {'connected_gene': 'GC01P158293', 'score': 0.29}, {'connected_gene': 'GC01P158292', 'score': 0.29}]
chr1 GH01I158333 158333888 158334071 0.46 [{'connected_gene': 'CD1E', 'score': 22.01}, {'connected_gene': 'CD1B', 'score': 8.18}, {'connected_gene': 'OR6Y1', 'score': 3.55}, {'connected_gene': 'OR10K2', 'score': 2.75}, {'connected_gene': 'OR6K6', 'score': 2.44}, {'connected_gene': 'OR10T2', 'score': 2.22}, {'connected_gene': 'CD1C', 'score': 1.67}]
chr1 GH01I158395 158395091 158397072 0.2 [{'connected_gene': 'CD1E', 'score': 5.59}, {'connected_gene': 'OR10T2', 'score': 0.77}]
chr1 GH01I158353 158353801 158354200 1.01 [{'connected_gene': 'CD1E', 'score': 550.77}, {'connected_gene': 'OR10T2', 'score': 0.25}]
chr1 GH01I158389 158389129 158394204 0.2 [{'connected_gene': 'CD1E', 'score': 6.33}, {'connected_gene': 'OR10T2', 'score': 0.44}]
chr1 GH01I158254 158254375 158254434 0.7 [{'connected_gene': 'CD1A', 'score': 550.44}, {'connected_gene': 'GC01P158261', 'score': 0.77}, {'connected_gene': 'GC01P158260', 'score': 0.77}]
chr1 GH01I158255 158254047 158254106 0.7 [{'connected_gene': 'CD1A', 'score': 550.44}, {'connected_gene': 'GC01P158261', 'score': 0.77}, {'connected_gene': 'GC01P158260', 'score': 0.77}]
chr1 GH01I158154 158154001 158154600 0.6 [{'connected_gene': 'CD1D', 'score': 11.4}, {'connected_gene': 'ELL2P1', 'score': 11.4}, {'connected_gene': 'CD1A', 'score': 10.19}, {'connected_gene': 'CD1C', 'score': 9.63}, {'connected_gene': 'LINC01704', 'score': 0.44}, {'connected_gene': 'LOC105371460', 'score': 0.39}]
chr1 GH01I158324 158324401 158325000 0.94 [{'connected_gene': 'CD1C', 'score': 10.57}, {'connected_gene': 'CD1A', 'score': 10.41}, {'connected_gene': 'CD1B', 'score': 0.44}, {'connected_gene': 'GC01P158293', 'score': 0.29}, {'connected_gene': 'GC01P158292', 'score': 0.29}]
chr1 GH01I158334 158334252 158335389 0.31 [{'connected_gene': 'CD1C', 'score': 10.23}, {'connected_gene': 'CD1B', 'score': 0.77}, {'connected_gene': 'CD1E', 'score': 0.37}]
chr1 GH01I158244 158244862 158246281 0.2 [{'connected_gene': 'CD1C', 'score': 11.39}, {'connected_gene': 'SPTA1', 'score': 9.58}, {'connected_gene': 'ENSG00000176320', 'score': 6.23}, {'connected_gene': 'CD1A', 'score': 0.77}, {'connected_gene': 'GC01P158234', 'score': 0.39}]
chr1 GH01I158335 158333401 158333600 0.51 [{'connected_gene': 'CD1B', 'score': 550.77}, {'connected_gene': 'CD1E', 'score': 0.37}]
chr1 GH01I158331 158331521 158331580 0.7 [{'connected_gene': 'CD1B', 'score': 550.77}, {'connected_gene': 'CD1E', 'score': 0.34}]
chr1 GH01I158361 158361950 158366193 0.31 [{'connected_gene': 'CD1B', 'score': 11.17}, {'connected_gene': 'OR10T2', 'score': 11.05}, {'connected_gene': 'CD1C', 'score': 10.47}, {'connected_gene': 'OR10K2', 'score': 10.21}, {'connected_gene': 'OR10X1', 'score': 9.48}, {'connected_gene': 'CD1E', 'score': 5.13}]
chr1 GH01I158358 158358359 158360954 0.2 [{'connected_gene': 'SPTA1', 'score': 13.68}, {'connected_gene': 'OR10T2', 'score': 11.05}, {'connected_gene': 'CD1B', 'score': 10.67}, {'connected_gene': 'CD1C', 'score': 10.36}, {'connected_gene': 'OR10R2', 'score': 10.06}, {'connected_gene': 'CD1E', 'score': 0.44}]
chr1 GH01I158251 158251157 158251687 0.4 [{'connected_gene': 'LINC01704', 'score': 5.44}, {'connected_gene': 'CD1A', 'score': 0.77}, {'connected_gene': 'GC01P158261', 'score': 0.44}, {'connected_gene': 'GC01P158260', 'score': 0.44}]
chr1 GH01I157991 157991414 158023607 2.66 [{'connected_gene': 'KIRREL1', 'score': 563.87}, {'connected_gene': 'LOC246784', 'score': 15.81}, {'connected_gene': 'CD1E', 'score': 11.24}, {'connected_gene': 'OR10T2', 'score': 3.31}, {'connected_gene': 'KIRREL1-IT1', 'score': 0.37}]
chr1 GH01I157652 157652801 157653600 0.77 [{'connected_gene': 'RRNAD1', 'score': 53.96}, {'connected_gene': 'PRCC', 'score': 18.96}, {'connected_gene': 'LOC246784', 'score': 11.72}, {'connected_gene': 'FCRL3', 'score': 9.88}, {'connected_gene': 'LRRC71', 'score': 9.75}, {'connected_gene': 'CD1E', 'score': 9.7}, {'connected_gene': 'MIR765', 'score': 4.66}, {'connected_gene': 'LOC105371457', 'score': 0.44}, {'connected_gene': 'ENSG00000233712', 'score': 0.39}]
chr1 GH01I158425 158425793 158426670 0.2 [{'connected_gene': 'OR10K2', 'score': 550.77}, {'connected_gene': 'CD1E', 'score': 10.68}, {'connected_gene': 'OR10T2', 'score': 10.59}, {'connected_gene': 'CD1B', 'score': 7.35}]
chr1 GH01I158394 158394640 158395021 0.38 [{'connected_gene': 'ACKR1', 'score': 4.49}, {'connected_gene': 'OR10T2', 'score': 0.77}, {'connected_gene': 'CD1E', 'score': 0.26}]
chr1 GH01I157963 157963731 157963880 0.69 [{'connected_gene': 'LOC246784', 'score': 12.22}, {'connected_gene': 'KIRREL1', 'score': 11.85}, {'connected_gene': 'CD1E', 'score': 10.11}, {'connected_gene': 'LOC105371459', 'score': 0.37}, {'connected_gene': 'LOC105371458', 'score': 0.28}]
chr1 GH01I158400 158400866 158401183 0.47 [{'connected_gene': 'OR10T2', 'score': 552.49}, {'connected_gene': 'CD1E', 'score': 15.76}, {'connected_gene': 'CD1B', 'score': 4.43}, {'connected_gene': 'OR10K1', 'score': 1.67}, {'connected_gene': 'OR6K3', 'score': 1.49}, {'connected_gene': 'OR6N1', 'score': 1.47}, {'connected_gene': 'OR10K2', 'score': 0.31}]
chr1 GH01I158370 158370974 158371596 0.54 [{'connected_gene': 'OR10T2', 'score': 11.22}, {'connected_gene': 'CD1E', 'score': 6.51}]
chr1 GH01I158369 158369759 158370940 0.38 [{'connected_gene': 'OR10T2', 'score': 11.22}, {'connected_gene': 'CD1E', 'score': 0.37}]
chr1 GH01I158368 158368296 158369458 0.2 [{'connected_gene': 'OR10T2', 'score': 11.2}, {'connected_gene': 'CD1E', 'score': 0.37}]
chr1 GH01I158399 158399378 158399437 0.7 [{'connected_gene': 'OR10T2', 'score': 550.77}, {'connected_gene': 'CD1E', 'score': 0.25}]
chr1 GH01I158366 158366393 158367242 0.2 [{'connected_gene': 'OR10T2', 'score': 11.2}, {'connected_gene': 'OR10K2', 'score': 9.92}, {'connected_gene': 'OR10X1', 'score': 9.48}, {'connected_gene': 'CD1E', 'score': 0.39}]
chr1 GH01I158493 158493046 158493397 0.26 [{'connected_gene': 'ENSG00000236656', 'score': 550.77}, {'connected_gene': 'CD1E', 'score': 15.21}, {'connected_gene': 'SPTA1', 'score': 7.05}, {'connected_gene': 'OR6N1', 'score': 5.51}, {'connected_gene': 'CD1B', 'score': 4.28}, {'connected_gene': 'OR10T2', 'score': 2.63}, {'connected_gene': 'OR10R3P', 'score': 0.77}]
chr1 GH01I158252 158252123 158252646 0.2 [{'connected_gene': 'GC01P158261', 'score': 0.77}, {'connected_gene': 'CD1A', 'score': 0.77}, {'connected_gene': 'GC01P158260', 'score': 0.77}]
chr1 GH01I158257 158257103 158258882 0.38 [{'connected_gene': 'GC01P158261', 'score': 550.77}, {'connected_gene': 'GC01P158260', 'score': 550.77}, {'connected_gene': 'CD1C', 'score': 11.44}, {'connected_gene': 'CD1A', 'score': 0.44}, {'connected_gene': 'HMGN1P5', 'score': 0.44}]
chr1 GH01I158283 158283201 158293035 2.02 [{'connected_gene': 'GC01P158286', 'score': 550.77}, {'connected_gene': 'CD1C', 'score': 550.77}, {'connected_gene': 'CD1B', 'score': 10.07}, {'connected_gene': 'CD1E', 'score': 5.25}, {'connected_gene': 'GC01P158293', 'score': 0.77}, {'connected_gene': 'GC01P158292', 'score': 0.77}]