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
ENST00000577730 [[61681145, 61686866], [61687822, 61688005], [61689373, 61689625], [61747744, 61747862], [61760997, 61761119], [61823249, 61823386], [61851382, 61851636], [61854829, 61855017], [61858915, 61859083], [61891022, 61891142], [61935082, 61935377], [62055055, 62055506]] [[61686720, 61686866], [61687822, 61688005], [61689373, 61689625], [61747744, 61747862], [61760997, 61761119], [61823249, 61823386], [61851382, 61851636], [61854829, 61855017], [61858915, 61859083], [61891022, 61891142], [61935082, 61935377], [62055055, 62055307]]
ENST00000585315 [[61681145, 61688005], [61689373, 61689625], [61747744, 61747862], [61823249, 61823386], [61851382, 61851636], [61854829, 61855017], [61858915, 61859083], [61891022, 61891142], [61935082, 61935377], [62055055, 62055506], [62069983, 62070216]] [[61747845, 61747862], [61823249, 61823386], [61851382, 61851636], [61854829, 61855017], [61858915, 61859083], [61891022, 61891142], [61935082, 61935377], [62055055, 62055307]]
ENST00000299345 [[61681145, 61681792], [61687785, 61688005], [61689373, 61689625], [61747744, 61747862], [61760997, 61761119], [61823249, 61823386], [61851382, 61851636], [61854829, 61855017], [61858915, 61859083], [61891022, 61891142], [61935082, 61935377], [62055055, 62055506], [62069983, 62070739]] [[61681680, 61681792], [61687785, 61688005], [61689373, 61689625], [61747744, 61747862], [61760997, 61761119], [61823249, 61823386], [61851382, 61851636], [61854829, 61855017], [61858915, 61859083], [61891022, 61891142], [61935082, 61935377], [62055055, 62055307]]
ENST00000577390 [[61681145, 61688005], [61689373, 61689625], [61747744, 61747862], [61760997, 61761119], [61823249, 61823386], [61851382, 61851636], [61854829, 61855017], [61858915, 61859083], [61891022, 61891142], [61935082, 61935377], [62055055, 62055506], [62069983, 62070739]] [[61687511, 61688005], [61689373, 61689625], [61747744, 61747862], [61760997, 61761119], [61823249, 61823386], [61851382, 61851636], [61854829, 61855017], [61858915, 61859083], [61891022, 61891142], [61935082, 61935377], [62055055, 62055307]]
ENST00000584337 [[61759069, 61761119], [61823249, 61823386], [61851382, 61851636], [61854829, 61855017], [61858915, 61859083], [61891022, 61891142], [61935082, 61935377], [62055055, 62055506], [62069983, 62070306]] [[61760934, 61761119], [61823249, 61823386], [61851382, 61851636], [61854829, 61855017], [61858915, 61859083], [61891022, 61891142], [61935082, 61935377], [62055055, 62055307]]
ENST00000583382 [[61851382, 61851636], [61854829, 61855017], [61858915, 61859083], [61891022, 61891142], [61935082, 61935377], [62055055, 62055506], [62068986, 62069038]] [[61851382, 61851636], [61854829, 61855017], [61858915, 61859083], [61891022, 61891142], [61935082, 61935377], [62055055, 62055307]]
ENST00000583483 [[61689463, 61689625], [61747744, 61747962]] None
ENST00000580044 [[61701082, 61701635], [61747744, 61747862], [61748081, 61748188]] None
ENST00000584966 [[61935033, 61935377], [62055055, 62055283]] None
ENST00000577536 [[61744652, 61744708], [61745499, 61745555], [61747744, 61747862], [61748081, 61748175]] None
ENST00000582242 [[61823379, 61823386], [61851382, 61851947]] None
ENST00000577228 [[61935295, 61935377], [61952161, 61952618]] None
ENST00000584506 [[62055063, 62055506], [62070823, 62070939]] [[62055063, 62055307]]
ENST00000582980 [[62065894, 62065917], [62069983, 62070336]] None
NM_001796 [[61685914, 61688005], [61689373, 61689625], [61747744, 61747862], [61760997, 61761119], [61823249, 61823386], [61851382, 61851636], [61854829, 61855017], [61858915, 61859083], [61891022, 61891142], [61935082, 61935377], [62055055, 62055506], [62069983, 62070739]] [[61687511, 61688005], [61689373, 61689625], [61747744, 61747862], [61760997, 61761119], [61823249, 61823386], [61851382, 61851636], [61854829, 61855017], [61858915, 61859083], [61891022, 61891142], [61935082, 61935377], [62055055, 62055307]]
Promoter
Chrom Start End Description
chr16 62070191 62070202 CAGE_peak_2_at_CDH8_5end
chr16 62070249 62070256 CAGE_peak_5_at_CDH8_5end
chr16 62070305 62070310 CAGE_peak_4_at_CDH8_5end
chr16 62070317 62070352 CAGE_peak_1_at_CDH8_5end
chr16 62070355 62070364 CAGE_peak_3_at_CDH8_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I061742 61742832 61743155 0.23 [{'connected_gene': 'RN7SKP76', 'score': 550.77}, {'connected_gene': 'CDH8', 'score': 1.38}, {'connected_gene': 'GC16P061739', 'score': 0.77}]
chr16 GH16I061926 61926917 61927066 0.46 [{'connected_gene': 'LOC105371305', 'score': 0.44}, {'connected_gene': 'GC16M061981', 'score': 0.23}, {'connected_gene': 'CDH8', 'score': 0.14}]
chr16 GH16I062037 62034457 62034606 0.31 [{'connected_gene': 'CDH8', 'score': 0.77}, {'connected_gene': 'GC16M061981', 'score': 0.23}]
chr16 GH16I062038 62036357 62036546 0.88 [{'connected_gene': 'CDH8', 'score': 550.77}, {'connected_gene': 'GC16M061981', 'score': 0.23}]
chr16 GH16I062021 62021019 62021786 0.2 [{'connected_gene': 'CDH8', 'score': 0.37}, {'connected_gene': 'GC16M061981', 'score': 0.28}]
chr16 GH16I062034 62034937 62035086 0.31 [{'connected_gene': 'CDH8', 'score': 0.77}, {'connected_gene': 'GC16M061981', 'score': 0.23}]
chr16 GH16I062035 62035657 62035786 0.38 [{'connected_gene': 'CDH8', 'score': 550.77}, {'connected_gene': 'GC16M061981', 'score': 0.23}]
chr16 GH16I062036 62035137 62035386 0.38 [{'connected_gene': 'CDH8', 'score': 550.77}, {'connected_gene': 'GC16M061981', 'score': 0.23}]
chr16 GH16I061791 61791091 61793464 0.62 [{'connected_gene': 'GC16M061797', 'score': 0.39}, {'connected_gene': 'RN7SKP76', 'score': 0.25}, {'connected_gene': 'CDH8', 'score': 0.07}]
chr16 GH16I061957 61957204 61957421 0.38 [{'connected_gene': 'GC16M061981', 'score': 0.34}, {'connected_gene': 'LOC105371305', 'score': 0.28}, {'connected_gene': 'CDH8', 'score': 0.18}]
chr16 GH16I061968 61968217 61969096 0.2 [{'connected_gene': 'GC16M061981', 'score': 0.39}, {'connected_gene': 'LOC105371305', 'score': 0.23}, {'connected_gene': 'CDH8', 'score': 0.2}]
chr16 GH16I061871 61871659 61874130 0.51 [{'connected_gene': 'PIR37105', 'score': 0.37}, {'connected_gene': 'GC16P061889', 'score': 0.37}, {'connected_gene': 'GC16M061797', 'score': 0.2}, {'connected_gene': 'CDH8', 'score': 0.1}]
chr16 GH16I061731 61731047 61731295 0.2 [{'connected_gene': 'GC16P061739', 'score': 0.44}, {'connected_gene': 'GC16P061695', 'score': 0.28}, {'connected_gene': 'CDH8', 'score': 0.06}]
chr16 GH16I061836 61836497 61837362 0.31 [{'connected_gene': 'GC16M061797', 'score': 0.29}, {'connected_gene': 'PIR37105', 'score': 0.23}, {'connected_gene': 'GC16P061889', 'score': 0.23}, {'connected_gene': 'CDH8', 'score': 0.08}]
chr16 GH16I062050 62050857 62051046 0.31 [{'connected_gene': 'GC16P062055', 'score': 0.77}, {'connected_gene': 'CDH8', 'score': 0.39}]
chr16 GH16I061887 61887949 61888646 0.98 [{'connected_gene': 'PIR37105', 'score': 550.77}, {'connected_gene': 'GC16P061889', 'score': 550.77}, {'connected_gene': 'GC16M061797', 'score': 0.17}, {'connected_gene': 'CDH8', 'score': 0.11}]
chr16 GH16I061829 61829697 61829846 0.2 [{'connected_gene': 'GC16M061797', 'score': 0.31}, {'connected_gene': 'PIR37105', 'score': 0.22}, {'connected_gene': 'GC16P061889', 'score': 0.22}, {'connected_gene': 'CDH8', 'score': 0.08}]
chr16 GH16I061828 61828045 61828501 0.2 [{'connected_gene': 'GC16M061797', 'score': 0.34}, {'connected_gene': 'PIR37105', 'score': 0.21}, {'connected_gene': 'GC16P061889', 'score': 0.21}, {'connected_gene': 'CDH8', 'score': 0.08}]