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
ENST00000409728 [[167744996, 167745067], [167759974, 167760400], [167992418, 167992572], [168041051, 168041150], [168067244, 168067405], [168074675, 168074810], [168096364, 168096475], [168097173, 168097246], [168098286, 168098420], [168110541, 168110675], [168114366, 168116259]] [[167759992, 167760400], [167992418, 167992572], [168041051, 168041150], [168067244, 168067405], [168074675, 168074810], [168096364, 168096475], [168097173, 168097246], [168098286, 168098420], [168110541, 168110675], [168114366, 168115873]]
ENST00000409043 [[167744996, 167745067], [167759974, 167760400], [167992418, 167992572], [168067244, 168067405], [168074675, 168074810], [168096364, 168096475], [168097173, 168097246], [168098286, 168098420], [168110541, 168110675], [168114366, 168116259]] [[167759992, 167760400], [167992418, 167992572], [168067244, 168067405], [168074675, 168074810], [168096364, 168096475], [168097173, 168097246], [168098286, 168098420], [168110541, 168110675], [168114366, 168115873]]
ENST00000409195 [[167744996, 167745067], [167759974, 167760400], [167992418, 167992572], [168067244, 168067405], [168074675, 168074810], [168096364, 168096475], [168097173, 168097246], [168098286, 168098420], [168099078, 168108457], [168110541, 168110675], [168114366, 168116263]] [[167759992, 167760400], [167992418, 167992572], [168067244, 168067405], [168074675, 168074810], [168096364, 168096475], [168097173, 168097246], [168098286, 168098420], [168099078, 168108457], [168110541, 168110636]]
ENST00000409756 [[167759974, 167760400], [167992418, 167992572], [168067244, 168067405], [168074675, 168074810], [168096364, 168096475], [168097173, 168097246], [168098286, 168098420], [168110541, 168110675], [168114366, 168116259]] [[167759992, 167760400], [167992418, 167992572], [168067244, 168067405], [168074675, 168074810], [168096364, 168096475], [168097173, 168097246], [168098286, 168098420], [168110541, 168110675], [168114366, 168115873]]
ENST00000420519 [[167759992, 167760400], [167992418, 167992572], [168041051, 168041150], [168067244, 168067405], [168074675, 168074810], [168096364, 168096475], [168097173, 168097246], [168098286, 168098420], [168110541, 168110675], [168114366, 168115873]] [[167759992, 167760400], [167992418, 167992572], [168041051, 168041150], [168067244, 168067405], [168074675, 168074810], [168096364, 168096475], [168097173, 168097246], [168098286, 168098420], [168110541, 168110675], [168114366, 168115873]]
ENST00000295237 [[167759992, 167760400], [167992418, 167992572], [168067244, 168067405], [168074675, 168074810], [168096364, 168096475], [168097173, 168097246], [168098286, 168098420], [168099078, 168108457], [168110541, 168110675], [168114366, 168116259]] [[167759992, 167760400], [167992418, 167992572], [168067244, 168067405], [168074675, 168074810], [168096364, 168096475], [168097173, 168097246], [168098286, 168098420], [168099078, 168108457], [168110541, 168110636]]
ENST00000409273 [[168043792, 168044041], [168067244, 168067405], [168074675, 168074810], [168096364, 168096475], [168097173, 168097246], [168098286, 168098420], [168099078, 168108457], [168110541, 168110675], [168114366, 168116259]] [[168067348, 168067405], [168074675, 168074810], [168096364, 168096475], [168097173, 168097246], [168098286, 168098420], [168099078, 168108457], [168110541, 168110636]]
ENST00000409605 [[168043792, 168044041], [168067244, 168067405], [168074675, 168074810], [168096364, 168096475], [168097173, 168097246], [168098286, 168098420], [168110541, 168110675], [168114366, 168116259]] [[168067348, 168067405], [168074675, 168074810], [168096364, 168096475], [168097173, 168097246], [168098286, 168098420], [168110541, 168110675], [168114366, 168115873]]
NM_001079810 [[167744996, 167745067], [167759974, 167760400], [167992418, 167992572], [168067244, 168067405], [168074675, 168074810], [168096364, 168096475], [168097173, 168097246], [168098286, 168098420], [168110541, 168110675], [168114366, 168116263]] [[167759992, 167760400], [167992418, 167992572], [168067244, 168067405], [168074675, 168074810], [168096364, 168096475], [168097173, 168097246], [168098286, 168098420], [168110541, 168110675], [168114366, 168115873]]
NM_152381 [[167744996, 167745067], [167759974, 167760400], [167992418, 167992572], [168067244, 168067405], [168074675, 168074810], [168096364, 168096475], [168097173, 168097246], [168098286, 168098420], [168099078, 168108457], [168110541, 168110675], [168114366, 168116263]] [[167759992, 167760400], [167992418, 167992572], [168067244, 168067405], [168074675, 168074810], [168096364, 168096475], [168097173, 168097246], [168098286, 168098420], [168099078, 168108457], [168110541, 168110636]]
NM_001199143 [[167744996, 167745067], [167759974, 167760400], [167992418, 167992572], [168041051, 168041150], [168067244, 168067405], [168074675, 168074810], [168096364, 168096475], [168097173, 168097246], [168098286, 168098420], [168110541, 168110675], [168114366, 168116263]] [[167759992, 167760400], [167992418, 167992572], [168041051, 168041150], [168067244, 168067405], [168074675, 168074810], [168096364, 168096475], [168097173, 168097246], [168098286, 168098420], [168110541, 168110675], [168114366, 168115873]]
NM_001199145 [[168043792, 168044041], [168067244, 168067405], [168074675, 168074810], [168096364, 168096475], [168097173, 168097246], [168098286, 168098420], [168110541, 168110675], [168114366, 168116263]] [[168067348, 168067405], [168074675, 168074810], [168096364, 168096475], [168097173, 168097246], [168098286, 168098420], [168110541, 168110675], [168114366, 168115873]]
NM_001199144 [[168043792, 168044041], [168067244, 168067405], [168074675, 168074810], [168096364, 168096475], [168097173, 168097246], [168098286, 168098420], [168099078, 168108457], [168110541, 168110675], [168114366, 168116263]] [[168067348, 168067405], [168074675, 168074810], [168096364, 168096475], [168097173, 168097246], [168098286, 168098420], [168099078, 168108457], [168110541, 168110636]]
Promoter
Chrom Start End Description
chr2 167992478 167992486 CAGE_peak_36_at_XIRP2_5end
chr2 168043855 168043866 CAGE_peak_2_at_XIRP2_5end
chr2 168043874 168043891 CAGE_peak_1_at_XIRP2_5end
chr2 168096434 168096444 CAGE_peak_39_at_XIRP2_5end
chr2 168099250 168099268 CAGE_peak_11_at_XIRP2_5end
chr2 168099313 168099324 CAGE_peak_19_at_XIRP2_5end
chr2 168099957 168099968 CAGE_peak_22_at_XIRP2_5end
chr2 168101377 168101389 CAGE_peak_24_at_XIRP2_5end
chr2 168102459 168102468 CAGE_peak_73_at_XIRP2_5end
chr2 168102721 168102729 CAGE_peak_77_at_XIRP2_5end
chr2 168104310 168104325 CAGE_peak_16_at_XIRP2_5end
chr2 168104440 168104447 CAGE_peak_35_at_XIRP2_5end
chr2 168104528 168104538 CAGE_peak_20_at_XIRP2_5end
chr2 168104544 168104551 CAGE_peak_52_at_XIRP2_5end
chr2 168104623 168104634 CAGE_peak_14_at_XIRP2_5end
chr2 168104676 168104679 CAGE_peak_104_at_XIRP2_5end
chr2 168104685 168104693 CAGE_peak_33_at_XIRP2_5end
chr2 168104698 168104717 CAGE_peak_6_at_XIRP2_5end
chr2 168104754 168104770 CAGE_peak_9_at_XIRP2_5end
chr2 168104879 168104882 CAGE_peak_74_at_XIRP2_5end
chr2 168104926 168104927 CAGE_peak_108_at_XIRP2_5end
chr2 168105148 168105163 CAGE_peak_5_at_XIRP2_5end
chr2 168105231 168105244 CAGE_peak_15_at_XIRP2_5end
chr2 168105362 168105368 CAGE_peak_46_at_XIRP2_5end
chr2 168105377 168105386 CAGE_peak_28_at_XIRP2_5end
chr2 168105397 168105402 CAGE_peak_58_at_XIRP2_5end
chr2 168105473 168105494 CAGE_peak_12_at_XIRP2_5end
chr2 168105520 168105527 CAGE_peak_45_at_XIRP2_5end
chr2 168105591 168105598 CAGE_peak_26_at_XIRP2_5end
chr2 168105681 168105697 CAGE_peak_7_at_XIRP2_5end
chr2 168105721 168105732 CAGE_peak_10_at_XIRP2_5end
chr2 168105890 168105906 CAGE_peak_8_at_XIRP2_5end
chr2 168105926 168105931 CAGE_peak_50_at_XIRP2_5end
chr2 168105987 168105994 CAGE_peak_54_at_XIRP2_5end
chr2 168106199 168106208 CAGE_peak_25_at_XIRP2_5end
chr2 168106610 168106613 CAGE_peak_76_at_XIRP2_5end
chr2 168106638 168106641 CAGE_peak_93_at_XIRP2_5end
chr2 168106752 168106760 CAGE_peak_42_at_XIRP2_5end
chr2 168106781 168106789 CAGE_peak_43_at_XIRP2_5end
chr2 168106813 168106826 CAGE_peak_4_at_XIRP2_5end
chr2 168106863 168106864 CAGE_peak_99_at_XIRP2_5end
chr2 168106954 168106963 CAGE_peak_21_at_XIRP2_5end
chr2 168106984 168106993 CAGE_peak_34_at_XIRP2_5end
chr2 168107024 168107040 CAGE_peak_3_at_XIRP2_5end
chr2 168107596 168107603 CAGE_peak_72_at_XIRP2_5end
chr2 168114682 168114692 CAGE_peak_27_at_XIRP2_5end
chr2 168114748 168114758 CAGE_peak_32_at_XIRP2_5end
chr2 168114851 168114868 CAGE_peak_13_at_XIRP2_5end
chr2 168115482 168115496 CAGE_peak_41_at_XIRP2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I167331 167331149 167332740 0.77 [{'connected_gene': 'B3GALT1', 'score': 10.06}, {'connected_gene': 'XIRP2', 'score': 9.11}, {'connected_gene': 'GC02M167353', 'score': 0.34}, {'connected_gene': 'ENSG00000228222', 'score': 0.28}]
chr2 GH02I167211 167211859 167212908 0.52 [{'connected_gene': 'B3GALT1', 'score': 5.27}, {'connected_gene': 'XIRP2-AS1', 'score': 0.19}, {'connected_gene': 'XIRP2', 'score': 0.05}]
chr2 GH02I167191 167191372 167191701 0.44 [{'connected_gene': 'XIRP2', 'score': 1.8}, {'connected_gene': 'XIRP2-AS1', 'score': 0.23}, {'connected_gene': 'B3GALT1', 'score': 0.15}]
chr2 GH02I167196 167196402 167197369 0.51 [{'connected_gene': 'XIRP2', 'score': 5.4}, {'connected_gene': 'XIRP2-AS1', 'score': 0.22}, {'connected_gene': 'B3GALT1', 'score': 0.15}]
chr2 GH02I167181 167181251 167181400 0.46 [{'connected_gene': 'XIRP2', 'score': 12.5}, {'connected_gene': 'XIRP2-AS1', 'score': 0.26}, {'connected_gene': 'B3GALT1', 'score': 0.14}]
chr2 GH02I167187 167187191 167187382 0.9 [{'connected_gene': 'XIRP2', 'score': 550.06}, {'connected_gene': 'XIRP2-AS1', 'score': 0.25}, {'connected_gene': 'B3GALT1', 'score': 0.14}]
chr2 GH02I166632 166632671 166632880 0.38 [{'connected_gene': 'XIRP2', 'score': 9.56}, {'connected_gene': 'ENSG00000225182', 'score': 9.56}, {'connected_gene': 'GC02P166635', 'score': 0.77}, {'connected_gene': 'PIR55994', 'score': 0.12}]
chr2 GH02I166957 166957546 166958595 0.43 [{'connected_gene': 'XIRP2', 'score': 10.29}, {'connected_gene': 'ENSG00000225182', 'score': 10.29}, {'connected_gene': 'PIR51196', 'score': 0.12}]
chr2 GH02I166888 166888431 166888490 0.61 [{'connected_gene': 'XIRP2', 'score': 550.77}, {'connected_gene': 'ENSG00000225182', 'score': 550.77}, {'connected_gene': 'GC02P166643', 'score': 0.07}]
chr2 GH02I166772 166772891 166773960 0.2 [{'connected_gene': 'XIRP2', 'score': 0.13}, {'connected_gene': 'GC02P166643', 'score': 0.12}]
chr2 GH02I166764 166764751 166765585 0.31 [{'connected_gene': 'XIRP2', 'score': 0.13}, {'connected_gene': 'GC02P166643', 'score': 0.13}]
chr2 GH02I167209 167209119 167211231 0.43 [{'connected_gene': 'XIRP2-AS1', 'score': 10.89}, {'connected_gene': 'B3GALT1', 'score': 10.11}, {'connected_gene': 'XIRP2', 'score': 0.05}]
chr2 GH02I167192 167192991 167193140 0.4 [{'connected_gene': 'XIRP2-AS1', 'score': 14.32}, {'connected_gene': 'XIRP2', 'score': 11.22}, {'connected_gene': 'B3GALT1', 'score': 0.15}]
chr2 GH02I167140 167140177 167142100 0.69 [{'connected_gene': 'XIRP2-AS1', 'score': 566.62}, {'connected_gene': 'XIRP2', 'score': 12.52}, {'connected_gene': 'B3GALT1', 'score': 0.1}]
chr2 GH02I167189 167189691 167190441 0.4 [{'connected_gene': 'XIRP2-AS1', 'score': 15.47}, {'connected_gene': 'XIRP2', 'score': 5.0}, {'connected_gene': 'B3GALT1', 'score': 0.15}]
chr2 GH02I167134 167134383 167136502 0.66 [{'connected_gene': 'XIRP2-AS1', 'score': 14.54}, {'connected_gene': 'XIRP2', 'score': 12.19}, {'connected_gene': 'PIR51196', 'score': 0.28}]
chr2 GH02I167129 167129867 167130233 0.25 [{'connected_gene': 'XIRP2-AS1', 'score': 0.39}, {'connected_gene': 'PIR51196', 'score': 0.29}, {'connected_gene': 'XIRP2', 'score': 0.07}]
chr2 GH02I166665 166665928 166666480 0.31 [{'connected_gene': 'GC02P166643', 'score': 0.34}, {'connected_gene': 'XIRP2', 'score': 0.07}]
chr2 GH02I166988 166988601 166988800 0.2 [{'connected_gene': 'ENSG00000225182', 'score': 0.15}, {'connected_gene': 'XIRP2', 'score': 0.15}, {'connected_gene': 'PIR51196', 'score': 0.14}]