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
ENST00000360835 [[43593288, 43600155], [43603539, 43603619], [43604077, 43604230], [43606048, 43606246], [43606927, 43607089], [43608430, 43608598], [43610095, 43610257], [43614260, 43614464], [43616455, 43616593], [43617178, 43617295], [43618643, 43618748], [43619102, 43619222], [43623379, 43623502], [43625077, 43625194], [43627758, 43627881], [43634843, 43634960], [43654224, 43654341], [43658725, 43658851], [43687051, 43687186], [43715942, 43716071], [43735109, 43735241], [43739179, 43739394]] [[43600002, 43600155], [43603539, 43603619], [43604077, 43604230], [43606048, 43606246], [43606927, 43607089], [43608430, 43608598], [43610095, 43610257], [43614260, 43614464], [43616455, 43616593], [43617178, 43617295], [43618643, 43618748], [43619102, 43619222], [43623379, 43623502], [43625077, 43625194], [43627758, 43627881], [43634843, 43634960], [43654224, 43654341], [43658725, 43658851], [43687051, 43687186], [43715942, 43716071], [43735109, 43735241], [43739179, 43739267]]
ENST00000449304 [[43627761, 43627881], [43634843, 43634960], [43651493, 43651583], [43654224, 43654341], [43658725, 43658805]] [[43627761, 43627881], [43634843, 43634960], [43651493, 43651583], [43654224, 43654341], [43658725, 43658805]]
ENST00000290460 [[43633581, 43634960], [43651493, 43651583], [43654224, 43654341], [43658725, 43658851], [43687051, 43687186], [43715942, 43716071], [43735109, 43735241], [43739179, 43739329]] [[43634733, 43634960], [43651493, 43651583], [43654224, 43654341], [43658725, 43658851], [43687051, 43687186], [43715942, 43716071], [43735109, 43735241], [43739179, 43739267]]
ENST00000477991 [[43666137, 43666595], [43668514, 43668545]] None
ENST00000470433 [[43666142, 43666595], [43668429, 43668520]] None
ENST00000461595 [[43712842, 43713116], [43714228, 43714355], [43715942, 43716071]] None
ENST00000480833 [[43712963, 43713116], [43715942, 43716071]] None
NM_173050 [[43599228, 43600155], [43603539, 43603619], [43604077, 43604230], [43606048, 43606246], [43606927, 43607089], [43608430, 43608598], [43610095, 43610257], [43614260, 43614464], [43616455, 43616593], [43617178, 43617295], [43618643, 43618748], [43619102, 43619222], [43623379, 43623502], [43625077, 43625194], [43627758, 43627881], [43634843, 43634960], [43654224, 43654341], [43658725, 43658851], [43687051, 43687186], [43715942, 43716071], [43735109, 43735241], [43739179, 43739394]] [[43600002, 43600155], [43603539, 43603619], [43604077, 43604230], [43606048, 43606246], [43606927, 43607089], [43608430, 43608598], [43610095, 43610257], [43614260, 43614464], [43616455, 43616593], [43617178, 43617295], [43618643, 43618748], [43619102, 43619222], [43623379, 43623502], [43625077, 43625194], [43627758, 43627881], [43634843, 43634960], [43654224, 43654341], [43658725, 43658851], [43687051, 43687186], [43715942, 43716071], [43735109, 43735241], [43739179, 43739267]]
Promoter
Chrom Start End Description
chr22 43739340 43739385 CAGE_peak_1_at_SCUBE1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr22 GH22I043313 43313875 43313984 0.89 [{'connected_gene': 'RRP7BP', 'score': 12.41}, {'connected_gene': 'TTLL1', 'score': 12.25}, {'connected_gene': 'SCUBE1', 'score': 11.58}, {'connected_gene': 'LOC101927447', 'score': 11.55}, {'connected_gene': 'LOC100506679', 'score': 10.18}, {'connected_gene': 'ENSG00000261251', 'score': 9.86}, {'connected_gene': 'GC22M043296', 'score': 0.44}, {'connected_gene': 'GC22M043280', 'score': 0.29}]
chr22 GH22I043343 43343362 43343504 1.12 [{'connected_gene': 'SCUBE1', 'score': 550.77}, {'connected_gene': 'RPL5P34', 'score': 12.73}, {'connected_gene': 'RN7SKP80', 'score': 9.85}, {'connected_gene': 'POLDIP3', 'score': 9.79}, {'connected_gene': 'LOC105373053', 'score': 0.25}]
chr22 GH22I043376 43376814 43379034 1.06 [{'connected_gene': 'SCUBE1', 'score': 12.52}, {'connected_gene': 'LOC101927447', 'score': 12.37}, {'connected_gene': 'MPPED1', 'score': 11.77}, {'connected_gene': 'ENSG00000234892', 'score': 11.29}, {'connected_gene': 'MCAT', 'score': 5.02}, {'connected_gene': 'LOC105373053', 'score': 0.39}]
chr22 GH22I043370 43370135 43370304 0.2 [{'connected_gene': 'SCUBE1', 'score': 11.9}, {'connected_gene': 'LOC101927447', 'score': 11.66}, {'connected_gene': 'ENSG00000234892', 'score': 10.6}, {'connected_gene': 'LOC105373053', 'score': 0.34}]
chr22 GH22I043297 43297805 43298122 0.38 [{'connected_gene': 'SCUBE1', 'score': 19.25}, {'connected_gene': 'LOC101927447', 'score': 12.16}, {'connected_gene': 'GC22M043280', 'score': 0.39}, {'connected_gene': 'GC22M043296', 'score': 0.34}]
chr22 GH22I043296 43296971 43297419 0.2 [{'connected_gene': 'SCUBE1', 'score': 19.63}, {'connected_gene': 'LOC101927447', 'score': 12.16}, {'connected_gene': 'GC22M043280', 'score': 0.39}, {'connected_gene': 'GC22M043296', 'score': 0.34}]
chr22 GH22I043300 43300823 43302877 0.58 [{'connected_gene': 'SCUBE1', 'score': 18.09}, {'connected_gene': 'LOC101927447', 'score': 11.99}, {'connected_gene': 'GC22M043280', 'score': 0.37}, {'connected_gene': 'GC22M043296', 'score': 0.34}]
chr22 GH22I043292 43292112 43294877 1.3 [{'connected_gene': 'SCUBE1', 'score': 16.46}, {'connected_gene': 'GC22M043280', 'score': 0.44}, {'connected_gene': 'GC22M043296', 'score': 0.31}]
chr22 GH22I043257 43257055 43257990 0.85 [{'connected_gene': 'SCUBE1', 'score': 11.94}, {'connected_gene': 'GC22M043246', 'score': 0.44}, {'connected_gene': 'GC22M043260', 'score': 0.44}]
chr22 GH22I043288 43288635 43291004 1.13 [{'connected_gene': 'SCUBE1', 'score': 7.48}, {'connected_gene': 'GC22M043280', 'score': 0.44}, {'connected_gene': 'GC22M043296', 'score': 0.29}]
chr22 GH22I043415 43415210 43415605 0.22 [{'connected_gene': 'MPPED1', 'score': 13.7}, {'connected_gene': 'SCUBE1', 'score': 3.98}, {'connected_gene': 'TTLL1', 'score': 2.68}, {'connected_gene': 'SULT4A1', 'score': 1.18}, {'connected_gene': 'GC22P043447', 'score': 0.29}]
chr22 GH22I043385 43385795 43385964 0.76 [{'connected_gene': 'MCAT', 'score': 5.53}, {'connected_gene': 'LOC105373053', 'score': 0.44}, {'connected_gene': 'SCUBE1', 'score': 0.26}]
chr22 GH22I043266 43266035 43268315 0.31 [{'connected_gene': 'TTLL12', 'score': 5.36}, {'connected_gene': 'MCAT', 'score': 4.59}, {'connected_gene': 'GC22M043260', 'score': 0.77}, {'connected_gene': 'LOC101927447', 'score': 0.44}, {'connected_gene': 'SCUBE1', 'score': 0.18}]
chr22 GH22I043202 43202535 43204057 0.46 [{'connected_gene': 'TTLL12', 'score': 11.66}, {'connected_gene': 'GC22M043198', 'score': 0.77}, {'connected_gene': 'LOC105373052', 'score': 0.44}, {'connected_gene': 'SCUBE1', 'score': 0.11}]
chr22 GH22I043205 43205573 43206564 0.6 [{'connected_gene': 'TTLL12', 'score': 11.34}, {'connected_gene': 'LOC105373052', 'score': 0.77}, {'connected_gene': 'GC22M043198', 'score': 0.44}, {'connected_gene': 'SCUBE1', 'score': 0.12}]
chr22 GH22I043227 43227383 43227666 0.2 [{'connected_gene': 'TTLL12', 'score': 13.4}, {'connected_gene': 'ENSG00000234892', 'score': 0.77}, {'connected_gene': 'LOC105373051', 'score': 0.39}, {'connected_gene': 'SCUBE1', 'score': 0.13}]
chr22 GH22I043226 43226305 43227294 0.58 [{'connected_gene': 'TTLL12', 'score': 12.77}, {'connected_gene': 'LOC101927447', 'score': 10.81}, {'connected_gene': 'SCUBE1', 'score': 10.69}, {'connected_gene': 'MCAT', 'score': 10.3}, {'connected_gene': 'MPPED1', 'score': 10.24}, {'connected_gene': 'ENSG00000234892', 'score': 0.44}, {'connected_gene': 'LOC105373051', 'score': 0.39}]
chr22 GH22I043388 43388435 43388604 0.82 [{'connected_gene': 'LOC105373053', 'score': 0.77}, {'connected_gene': 'SCUBE1', 'score': 0.25}]
chr22 GH22I043389 43388795 43388853 0.57 [{'connected_gene': 'LOC105373053', 'score': 0.77}, {'connected_gene': 'SCUBE1', 'score': 0.25}]
chr22 GH22I043240 43240715 43241470 1.26 [{'connected_gene': 'LOC101927447', 'score': 12.03}, {'connected_gene': 'SCUBE1', 'score': 11.88}, {'connected_gene': 'TTLL12', 'score': 7.21}, {'connected_gene': 'TTLL1', 'score': 4.59}, {'connected_gene': 'ENSG00000234892', 'score': 0.44}, {'connected_gene': 'GC22P043247', 'score': 0.44}]
chr22 GH22I043234 43234821 43238189 0.87 [{'connected_gene': 'LOC101927447', 'score': 11.6}, {'connected_gene': 'SCUBE1', 'score': 11.47}, {'connected_gene': 'ENSG00000234892', 'score': 6.98}, {'connected_gene': 'TTLL12', 'score': 6.37}, {'connected_gene': 'GC22P043247', 'score': 0.39}]
chr22 GH22I043346 43346535 43346684 0.57 [{'connected_gene': 'LOC101927447', 'score': 11.91}, {'connected_gene': 'ENSG00000234892', 'score': 11.43}, {'connected_gene': 'SCUBE1', 'score': 0.77}, {'connected_gene': 'LOC105373053', 'score': 0.26}]
chr22 GH22I043305 43305905 43306128 0.31 [{'connected_gene': 'LOC101927447', 'score': 11.91}, {'connected_gene': 'SCUBE1', 'score': 11.89}, {'connected_gene': 'GC22M043296', 'score': 0.37}, {'connected_gene': 'GC22M043280', 'score': 0.34}]
chr22 GH22I043307 43307446 43307704 0.31 [{'connected_gene': 'LOC101927447', 'score': 11.91}, {'connected_gene': 'SCUBE1', 'score': 11.89}, {'connected_gene': 'GC22M043296', 'score': 0.39}, {'connected_gene': 'GC22M043280', 'score': 0.34}]
chr22 GH22I043238 43238575 43238724 0.83 [{'connected_gene': 'LOC101927447', 'score': 11.6}, {'connected_gene': 'SCUBE1', 'score': 11.48}, {'connected_gene': 'ENSG00000234892', 'score': 0.44}, {'connected_gene': 'GC22P043247', 'score': 0.44}]
chr22 GH22I043306 43306428 43306922 0.2 [{'connected_gene': 'LOC101927447', 'score': 11.91}, {'connected_gene': 'SCUBE1', 'score': 11.89}, {'connected_gene': 'GC22M043296', 'score': 0.37}, {'connected_gene': 'GC22M043280', 'score': 0.34}]
chr22 GH22I043243 43239991 43240339 0.38 [{'connected_gene': 'LOC101927447', 'score': 12.01}, {'connected_gene': 'SCUBE1', 'score': 11.88}, {'connected_gene': 'ENSG00000234892', 'score': 0.44}, {'connected_gene': 'GC22P043247', 'score': 0.44}]
chr22 GH22I043298 43298184 43298738 0.38 [{'connected_gene': 'LOC101927447', 'score': 12.16}, {'connected_gene': 'SCUBE1', 'score': 12.08}, {'connected_gene': 'GC22M043280', 'score': 0.39}, {'connected_gene': 'GC22M043296', 'score': 0.34}]
chr22 GH22I043249 43249884 43251770 0.43 [{'connected_gene': 'LOC101927447', 'score': 12.08}, {'connected_gene': 'SCUBE1', 'score': 11.93}, {'connected_gene': 'GC22M043246', 'score': 0.77}, {'connected_gene': 'GC22P043247', 'score': 0.77}, {'connected_gene': 'GC22M043260', 'score': 0.39}]
chr22 GH22I043239 43239415 43239564 0.58 [{'connected_gene': 'LOC101927447', 'score': 12.01}, {'connected_gene': 'SCUBE1', 'score': 11.88}, {'connected_gene': 'ENSG00000234892', 'score': 0.44}, {'connected_gene': 'GC22P043247', 'score': 0.44}]
chr22 GH22I043241 43241483 43241993 0.75 [{'connected_gene': 'LOC101927447', 'score': 12.03}, {'connected_gene': 'SCUBE1', 'score': 11.88}, {'connected_gene': 'ENSG00000234892', 'score': 0.44}, {'connected_gene': 'GC22P043247', 'score': 0.44}]
chr22 GH22I043268 43268460 43268949 0.2 [{'connected_gene': 'LOC101927447', 'score': 0.44}, {'connected_gene': 'GC22M043260', 'score': 0.44}, {'connected_gene': 'SCUBE1', 'score': 0.19}]
chr22 GH22I043270 43270435 43270604 0.69 [{'connected_gene': 'LOC101927447', 'score': 0.44}, {'connected_gene': 'GC22M043260', 'score': 0.44}, {'connected_gene': 'SCUBE1', 'score': 0.19}]
chr22 GH22I043275 43275575 43275984 0.93 [{'connected_gene': 'LOC101927447', 'score': 550.77}, {'connected_gene': 'GC22M043260', 'score': 0.39}, {'connected_gene': 'SCUBE1', 'score': 0.2}]
chr22 GH22I043269 43269336 43270064 0.66 [{'connected_gene': 'LOC101927447', 'score': 0.44}, {'connected_gene': 'GC22M043260', 'score': 0.44}, {'connected_gene': 'SCUBE1', 'score': 0.19}]
chr22 GH22I043272 43272002 43274163 0.87 [{'connected_gene': 'LOC101927447', 'score': 0.77}, {'connected_gene': 'GC22M043260', 'score': 0.39}, {'connected_gene': 'SCUBE1', 'score': 0.19}]
chr22 GH22I043271 43271081 43271430 0.46 [{'connected_gene': 'LOC101927447', 'score': 0.77}, {'connected_gene': 'GC22M043260', 'score': 0.44}, {'connected_gene': 'SCUBE1', 'score': 0.19}]
chr22 GH22I043278 43278365 43278950 0.63 [{'connected_gene': 'LOC101927447', 'score': 0.77}, {'connected_gene': 'GC22M043280', 'score': 0.77}, {'connected_gene': 'SCUBE1', 'score': 0.21}]
chr22 GH22I043242 43242546 43249857 0.54 [{'connected_gene': 'GC22P043247', 'score': 550.77}, {'connected_gene': 'RRP7BP', 'score': 12.81}, {'connected_gene': 'LOC101927447', 'score': 12.05}, {'connected_gene': 'SCUBE1', 'score': 11.89}, {'connected_gene': 'POLDIP3', 'score': 10.66}, {'connected_gene': 'RN7SKP80', 'score': 10.18}, {'connected_gene': 'TTLL12', 'score': 7.64}, {'connected_gene': 'GC22M043246', 'score': 0.77}, {'connected_gene': 'ENSG00000234892', 'score': 0.39}]
chr22 GH22I043235 43233952 43234155 0.59 [{'connected_gene': 'ENSG00000234892', 'score': 550.77}, {'connected_gene': 'GC22P043247', 'score': 0.39}, {'connected_gene': 'SCUBE1', 'score': 0.14}]
chr22 GH22I043291 43291839 43292105 0.46 [{'connected_gene': 'GC22M043280', 'score': 0.44}, {'connected_gene': 'GC22M043296', 'score': 0.29}, {'connected_gene': 'SCUBE1', 'score': 0.23}]
chr22 GH22I043233 43231335 43231484 0.75 [{'connected_gene': 'ENSG00000234892', 'score': 550.77}, {'connected_gene': 'SERHL2', 'score': 4.95}, {'connected_gene': 'LOC105373051', 'score': 0.37}, {'connected_gene': 'SCUBE1', 'score': 0.14}]
chr22 GH22I043232 43231649 43233103 0.62 [{'connected_gene': 'ENSG00000234892', 'score': 550.77}, {'connected_gene': 'TTLL12', 'score': 6.83}, {'connected_gene': 'GC22P043247', 'score': 0.39}, {'connected_gene': 'SCUBE1', 'score': 0.14}]
chr22 GH22I043196 43196875 43198608 0.38 [{'connected_gene': 'GC22M043198', 'score': 550.77}, {'connected_gene': 'TTLL12', 'score': 19.33}, {'connected_gene': 'LOC105373051', 'score': 4.71}, {'connected_gene': 'SCUBE1', 'score': 0.11}]
chr22 GH22I043259 43259929 43265667 1.66 [{'connected_gene': 'GC22M043260', 'score': 550.77}, {'connected_gene': 'TTLL12', 'score': 5.45}, {'connected_gene': 'LOC101927447', 'score': 0.39}, {'connected_gene': 'SCUBE1', 'score': 0.18}]
chr22 GH22I043231 43231075 43231224 0.69 [{'connected_gene': 'ENSG00000234892', 'score': 550.77}, {'connected_gene': 'LOC105373051', 'score': 0.37}, {'connected_gene': 'SCUBE1', 'score': 0.14}]