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
ENST00000263923 [[55944643, 55946330], [55948122, 55948208], [55948702, 55948802], [55953773, 55953925], [55955034, 55955140], [55955540, 55955640], [55955857, 55955969], [55956122, 55956245], [55958783, 55958881], [55960968, 55961122], [55961743, 55961832], [55962395, 55962509], [55963828, 55963933], [55964303, 55964439], [55964863, 55964970], [55968063, 55968195], [55968528, 55968675], [55970809, 55971151], [55971998, 55972107], [55972853, 55972977], [55973903, 55974060], [55976569, 55976733], [55976820, 55976935], [55979470, 55979648], [55980292, 55980432], [55981040, 55981209], [55981447, 55981578], [55984770, 55984967], [55987263, 55987357], [55991393, 55991756]] [[55946107, 55946330], [55948122, 55948208], [55948702, 55948802], [55953773, 55953925], [55955034, 55955140], [55955540, 55955640], [55955857, 55955969], [55956122, 55956245], [55958783, 55958881], [55960968, 55961122], [55961743, 55961832], [55962395, 55962509], [55963828, 55963933], [55964303, 55964439], [55964863, 55964970], [55968063, 55968195], [55968528, 55968675], [55970809, 55971151], [55971998, 55972107], [55972853, 55972977], [55973903, 55974060], [55976569, 55976733], [55976820, 55976935], [55979470, 55979648], [55980292, 55980432], [55981040, 55981209], [55981447, 55981578], [55984770, 55984967], [55987263, 55987357], [55991393, 55991460]]
ENST00000509309 [[55961016, 55961122], [55961743, 55961832], [55962395, 55962887]] None
ENST00000512566 [[55970759, 55971151], [55971998, 55972107], [55972853, 55972977], [55973903, 55974060], [55976569, 55976733], [55976820, 55976935], [55979470, 55979648], [55980292, 55980432], [55981040, 55981209], [55981447, 55981578], [55984770, 55984967], [55987263, 55987357], [55991393, 55991460]] None
NM_002253 [[55944425, 55946330], [55948122, 55948208], [55948702, 55948802], [55953773, 55953925], [55955034, 55955140], [55955540, 55955640], [55955857, 55955969], [55956122, 55956245], [55958783, 55958881], [55960968, 55961122], [55961743, 55961832], [55962395, 55962509], [55963828, 55963933], [55964303, 55964439], [55964863, 55964970], [55968063, 55968195], [55968528, 55968675], [55970809, 55971151], [55971998, 55972107], [55972853, 55972977], [55973903, 55974060], [55976569, 55976733], [55976820, 55976935], [55979470, 55979648], [55980292, 55980432], [55981040, 55981209], [55981447, 55981578], [55984770, 55984967], [55987263, 55987357], [55991393, 55991762]] [[55946107, 55946330], [55948122, 55948208], [55948702, 55948802], [55953773, 55953925], [55955034, 55955140], [55955540, 55955640], [55955857, 55955969], [55956122, 55956245], [55958783, 55958881], [55960968, 55961122], [55961743, 55961832], [55962395, 55962509], [55963828, 55963933], [55964303, 55964439], [55964863, 55964970], [55968063, 55968195], [55968528, 55968675], [55970809, 55971151], [55971998, 55972107], [55972853, 55972977], [55973903, 55974060], [55976569, 55976733], [55976820, 55976935], [55979470, 55979648], [55980292, 55980432], [55981040, 55981209], [55981447, 55981578], [55984770, 55984967], [55987263, 55987357], [55991393, 55991460]]
Promoter
Chrom Start End Description
chr4 55953879 55953915 CAGE_peak_2_at_KDR_5end
chr4 55991752 55991770 CAGE_peak_1_at_KDR_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I055279 55279578 55282478 0.2 [{'connected_gene': 'KDR', 'score': 15.1}, {'connected_gene': 'SRD5A3', 'score': 4.4}, {'connected_gene': 'RNU6-746P', 'score': 0.39}, {'connected_gene': 'LOC100128865', 'score': 0.21}]
chr4 GH04I055067 55067656 55070821 0.43 [{'connected_gene': 'KDR', 'score': 11.33}, {'connected_gene': 'EXOC1L', 'score': 4.98}, {'connected_gene': 'RN7SL424P', 'score': 0.44}, {'connected_gene': 'ENSG00000250646', 'score': 0.37}, {'connected_gene': 'GC04M055072', 'score': 0.34}]
chr4 GH04I054929 54929152 54931179 1.06 [{'connected_gene': 'KDR', 'score': 3.79}, {'connected_gene': 'GC04P054944', 'score': 0.39}, {'connected_gene': 'LINC02358', 'score': 0.18}]
chr4 GH04I055073 55073960 55075009 0.31 [{'connected_gene': 'KDR', 'score': 10.75}, {'connected_gene': 'RN7SL424P', 'score': 0.39}, {'connected_gene': 'GC04M055072', 'score': 0.37}, {'connected_gene': 'ENSG00000250646', 'score': 0.34}]
chr4 GH04I055078 55078301 55081038 0.66 [{'connected_gene': 'KDR', 'score': 11.29}, {'connected_gene': 'GC04M055072', 'score': 0.39}, {'connected_gene': 'RN7SL424P', 'score': 0.37}, {'connected_gene': 'ENSG00000250646', 'score': 0.31}]
chr4 GH04I055157 55157801 55158000 0.2 [{'connected_gene': 'KDR', 'score': 11.96}, {'connected_gene': 'RN7SL822P', 'score': 0.22}]
chr4 GH04I055177 55177539 55179286 0.6 [{'connected_gene': 'KDR', 'score': 57.36}, {'connected_gene': 'RN7SL822P', 'score': 0.28}]
chr4 GH04I055159 55159476 55161002 0.2 [{'connected_gene': 'KDR', 'score': 11.96}, {'connected_gene': 'RN7SL822P', 'score': 0.22}]
chr4 GH04I055169 55169214 55170050 0.54 [{'connected_gene': 'KDR', 'score': 55.55}, {'connected_gene': 'RN7SL822P', 'score': 0.25}]
chr4 GH04I055175 55175076 55176973 0.96 [{'connected_gene': 'KDR', 'score': 50.93}, {'connected_gene': 'RN7SL822P', 'score': 0.28}]
chr4 GH04I055183 55183119 55187913 1.05 [{'connected_gene': 'KDR', 'score': 61.05}, {'connected_gene': 'RN7SL822P', 'score': 0.29}]
chr4 GH04I055172 55172600 55174000 1.2 [{'connected_gene': 'KDR', 'score': 59.34}, {'connected_gene': 'RN7SL822P', 'score': 0.26}]
chr4 GH04I055132 55132669 55133421 0.43 [{'connected_gene': 'KDR', 'score': 0.44}, {'connected_gene': 'RN7SL822P', 'score': 0.18}]
chr4 GH04I055180 55180853 55182348 0.31 [{'connected_gene': 'KDR', 'score': 55.48}, {'connected_gene': 'RN7SL822P', 'score': 0.29}]
chr4 GH04I055125 55125179 55126201 1.63 [{'connected_gene': 'KDR', 'score': 550.77}, {'connected_gene': 'RN7SL822P', 'score': 0.16}]
chr4 GH04I055303 55303429 55304526 0.66 [{'connected_gene': 'KDR', 'score': 25.05}, {'connected_gene': 'LRRC34P2', 'score': 0.44}, {'connected_gene': 'RNU6-746P', 'score': 0.44}]
chr4 GH04I054985 54985875 54987277 0.46 [{'connected_gene': 'KDR', 'score': 18.3}, {'connected_gene': 'RPL38P3', 'score': 0.39}, {'connected_gene': 'GC04P054944', 'score': 0.26}, {'connected_gene': 'RNU6-410P', 'score': 0.25}]
chr4 GH04I055256 55256994 55257143 0.2 [{'connected_gene': 'KDR', 'score': 10.67}, {'connected_gene': 'LOC100128865', 'score': 0.28}, {'connected_gene': 'RNU6-746P', 'score': 0.28}]
chr4 GH04I055123 55123402 55123599 0.2 [{'connected_gene': 'KDR', 'score': 0.77}, {'connected_gene': 'GC04M055072', 'score': 0.29}]
chr4 GH04I055124 55123802 55124399 0.31 [{'connected_gene': 'KDR', 'score': 550.77}, {'connected_gene': 'GC04M055072', 'score': 0.29}]
chr4 GH04I055608 55608386 55611615 0.31 [{'connected_gene': 'NMU', 'score': 28.71}, {'connected_gene': 'TMEM165', 'score': 25.17}, {'connected_gene': 'KDR', 'score': 9.42}, {'connected_gene': 'SRD5A3', 'score': 5.69}, {'connected_gene': 'PDCL2', 'score': 0.37}]
chr4 GH04I055214 55214234 55214383 0.43 [{'connected_gene': 'RN7SL822P', 'score': 550.77}, {'connected_gene': 'KDR', 'score': 10.25}]
chr4 GH04I055311 55311855 55312119 0.92 [{'connected_gene': 'LRRC34P2', 'score': 550.77}, {'connected_gene': 'KDR', 'score': 9.65}, {'connected_gene': 'TMEM165', 'score': 2.2}, {'connected_gene': 'SRD5A3', 'score': 1.59}, {'connected_gene': 'RNU6-746P', 'score': 0.37}]