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
ENST00000411544 [[43124861, 43124996], [43128898, 43129075], [43129713, 43129941], [43132455, 43132636], [43133441, 43133532]] [[43128936, 43129075], [43129713, 43129941], [43132455, 43132636], [43133441, 43133532]]
ENST00000255175 [[43124864, 43124996], [43128898, 43129075], [43129713, 43129941], [43132455, 43132636], [43133441, 43133532], [43135467, 43135637], [43138531, 43138669], [43139929, 43140009], [43141441, 43141635], [43142519, 43142681], [43150553, 43150726]] [[43128936, 43129075], [43129713, 43129941], [43132455, 43132636], [43133441, 43133532], [43135467, 43135637], [43138531, 43138669], [43139929, 43140009], [43141441, 43141635], [43142519, 43142681], [43150553, 43150592]]
ENST00000342374 [[43126071, 43129075], [43129713, 43129941], [43132455, 43132636], [43133441, 43133532], [43135467, 43135637], [43138531, 43138669], [43139929, 43140009], [43141441, 43141635], [43142519, 43142681], [43150553, 43150750]] [[43128936, 43129075], [43129713, 43129941], [43132455, 43132636], [43133441, 43133532], [43135467, 43135637], [43138531, 43138669], [43139929, 43140009], [43141441, 43141635], [43142519, 43142681], [43150553, 43150592]]
ENST00000541235 [[43128812, 43129075], [43129713, 43129941], [43132455, 43132636], [43133441, 43133532], [43135467, 43135637], [43138531, 43138669], [43139929, 43140009], [43141441, 43141635], [43142519, 43142681], [43147952, 43148055], [43150553, 43150651]] [[43128936, 43129075], [43129713, 43129941], [43132455, 43132636], [43133441, 43133532], [43135467, 43135637], [43138531, 43138669], [43139929, 43140009], [43141441, 43141635], [43142519, 43142555]]
ENST00000468234 [[43142533, 43142681], [43147952, 43148055], [43150553, 43150695]] None
NM_198941 [[43124861, 43124996], [43128898, 43129075], [43129713, 43129941], [43132455, 43132636], [43133441, 43133532], [43135467, 43135637], [43138531, 43138669], [43139929, 43140009], [43141441, 43141635], [43142519, 43142681], [43150553, 43150757]] [[43128936, 43129075], [43129713, 43129941], [43132455, 43132636], [43133441, 43133532], [43135467, 43135637], [43138531, 43138669], [43139929, 43140009], [43141441, 43141635], [43142519, 43142681], [43150553, 43150592]]
NM_006811 [[43126080, 43129075], [43129713, 43129941], [43132455, 43132636], [43133441, 43133532], [43135467, 43135637], [43138531, 43138669], [43139929, 43140009], [43141441, 43141635], [43142519, 43142681], [43150553, 43150757]] [[43128936, 43129075], [43129713, 43129941], [43132455, 43132636], [43133441, 43133532], [43135467, 43135637], [43138531, 43138669], [43139929, 43140009], [43141441, 43141635], [43142519, 43142681], [43150553, 43150592]]
Promoter
Chrom Start End Description
chr20 43150601 43150751 CAGE_peak_1_at_SERINC3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I044688 44688360 44688509 0.51 [{'connected_gene': 'WISP2', 'score': 12.61}, {'connected_gene': 'KCNK15', 'score': 11.24}, {'connected_gene': 'KCNK15-AS1', 'score': 11.24}, {'connected_gene': 'ADA', 'score': 11.17}, {'connected_gene': 'SERINC3', 'score': 10.47}, {'connected_gene': 'PKIG', 'score': 10.04}, {'connected_gene': 'ENSG00000132832', 'score': 0.44}, {'connected_gene': 'LINC01260', 'score': 0.37}]
chr20 GH20I044965 44965174 44972677 2.58 [{'connected_gene': 'STK4', 'score': 575.1}, {'connected_gene': 'PCIF1', 'score': 24.39}, {'connected_gene': 'SYS1', 'score': 14.48}, {'connected_gene': 'ENSG00000271984', 'score': 12.46}, {'connected_gene': 'PABPC1L', 'score': 10.77}, {'connected_gene': 'DNTTIP1', 'score': 10.34}, {'connected_gene': 'OSER1', 'score': 9.75}, {'connected_gene': 'WFDC5', 'score': 7.35}, {'connected_gene': 'TOMM34', 'score': 6.2}, {'connected_gene': 'SERINC3', 'score': 4.71}, {'connected_gene': 'YWHAB', 'score': 1.84}, {'connected_gene': 'ADA', 'score': 1.18}, {'connected_gene': 'STK4-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000252021', 'score': 0.28}]
chr20 GH20I044516 44516640 44516789 0.31 [{'connected_gene': 'LINC01620', 'score': 10.5}, {'connected_gene': 'LINC01430', 'score': 10.5}, {'connected_gene': 'SERINC3', 'score': 0.44}, {'connected_gene': 'PIR36658', 'score': 0.37}, {'connected_gene': 'GC20M044500', 'score': 0.37}, {'connected_gene': 'GC20P044473', 'score': 0.26}]
chr20 GH20I044525 44525604 44526802 0.58 [{'connected_gene': 'PKIG', 'score': 6.32}, {'connected_gene': 'TTPAL', 'score': 5.18}, {'connected_gene': 'SERINC3', 'score': 0.77}]
chr20 GH20I044503 44503837 44505785 0.72 [{'connected_gene': 'PKIG', 'score': 17.66}, {'connected_gene': 'LINC01620', 'score': 11.57}, {'connected_gene': 'LINC01430', 'score': 11.57}, {'connected_gene': 'PIR36658', 'score': 0.44}, {'connected_gene': 'GC20M044500', 'score': 0.44}, {'connected_gene': 'SERINC3', 'score': 0.37}, {'connected_gene': 'GC20P044473', 'score': 0.29}]
chr20 GH20I044506 44506860 44507977 0.43 [{'connected_gene': 'PKIG', 'score': 12.28}, {'connected_gene': 'LINC01620', 'score': 10.25}, {'connected_gene': 'LINC01430', 'score': 10.25}, {'connected_gene': 'PIR36658', 'score': 0.44}, {'connected_gene': 'GC20M044500', 'score': 0.44}, {'connected_gene': 'SERINC3', 'score': 0.39}, {'connected_gene': 'GC20P044473', 'score': 0.29}]
chr20 GH20I044594 44594160 44595504 1.37 [{'connected_gene': 'PKIG', 'score': 12.39}, {'connected_gene': 'SERINC3', 'score': 11.9}, {'connected_gene': 'ADA', 'score': 10.75}, {'connected_gene': 'LINC01620', 'score': 9.88}, {'connected_gene': 'LINC01430', 'score': 9.88}, {'connected_gene': 'TTPAL', 'score': 4.86}, {'connected_gene': 'PIR61280', 'score': 0.31}, {'connected_gene': 'GC20M044554', 'score': 0.23}]
chr20 GH20I044591 44591712 44592957 0.38 [{'connected_gene': 'PKIG', 'score': 17.44}, {'connected_gene': 'SERINC3', 'score': 11.39}, {'connected_gene': 'ADA', 'score': 10.75}, {'connected_gene': 'LINC01620', 'score': 9.88}, {'connected_gene': 'LINC01430', 'score': 9.88}, {'connected_gene': 'PIR61280', 'score': 0.31}, {'connected_gene': 'GC20M044554', 'score': 0.23}]
chr20 GH20I044552 44552053 44554878 1.58 [{'connected_gene': 'PKIG', 'score': 17.41}, {'connected_gene': 'ADA', 'score': 10.48}, {'connected_gene': 'SERINC3', 'score': 1.58}, {'connected_gene': 'PIR61280', 'score': 0.2}, {'connected_gene': 'GC20M044554', 'score': 0.16}]
chr20 GH20I044518 44518965 44523782 2.24 [{'connected_gene': 'SERINC3', 'score': 560.86}, {'connected_gene': 'PKIG', 'score': 6.28}, {'connected_gene': 'TTPAL', 'score': 5.11}, {'connected_gene': 'PIR36658', 'score': 0.34}, {'connected_gene': 'GC20M044500', 'score': 0.34}]
chr20 GH20I044501 44501147 44502401 0.51 [{'connected_gene': 'SERINC3', 'score': 11.83}, {'connected_gene': 'PKIG', 'score': 11.76}, {'connected_gene': 'LINC01620', 'score': 11.57}, {'connected_gene': 'LINC01430', 'score': 11.57}, {'connected_gene': 'PIR36658', 'score': 0.77}, {'connected_gene': 'GC20M044500', 'score': 0.77}, {'connected_gene': 'GC20P044473', 'score': 0.31}]
chr20 GH20I044540 44540425 44544888 1.14 [{'connected_gene': 'SERINC3', 'score': 12.4}, {'connected_gene': 'PKIG', 'score': 5.73}, {'connected_gene': 'PIR61280', 'score': 0.18}]
chr20 GH20I044690 44690836 44697249 1.7 [{'connected_gene': 'ENSG00000132832', 'score': 16.52}, {'connected_gene': 'WISP2', 'score': 15.96}, {'connected_gene': 'KCNK15', 'score': 13.8}, {'connected_gene': 'KCNK15-AS1', 'score': 11.33}, {'connected_gene': 'ADA', 'score': 11.15}, {'connected_gene': 'SERINC3', 'score': 10.46}, {'connected_gene': 'PKIG', 'score': 10.04}, {'connected_gene': 'PIGT', 'score': 4.62}, {'connected_gene': 'PABPC1L', 'score': 4.39}, {'connected_gene': 'LINC01260', 'score': 0.34}]
chr20 GH20I044491 44491043 44492929 0.63 [{'connected_gene': 'GC20P044491', 'score': 550.77}, {'connected_gene': 'PIR37618', 'score': 550.77}, {'connected_gene': 'RPL37AP1', 'score': 12.54}, {'connected_gene': 'SERINC3', 'score': 12.04}, {'connected_gene': 'PKIG', 'score': 11.58}, {'connected_gene': 'LINC01620', 'score': 11.15}, {'connected_gene': 'LINC01430', 'score': 11.15}, {'connected_gene': 'TTPAL', 'score': 0.37}, {'connected_gene': 'GC20P044473', 'score': 0.37}]
chr20 GH20I044493 44493549 44498361 1.25 [{'connected_gene': 'GC20P044495', 'score': 550.77}, {'connected_gene': 'PIR46342', 'score': 550.77}, {'connected_gene': 'PKIG', 'score': 17.51}, {'connected_gene': 'TTPAL', 'score': 17.4}, {'connected_gene': 'SERINC3', 'score': 13.18}, {'connected_gene': 'RPL37AP1', 'score': 12.54}, {'connected_gene': 'LINC01620', 'score': 11.14}, {'connected_gene': 'LINC01430', 'score': 11.14}, {'connected_gene': 'OSER1', 'score': 1.56}, {'connected_gene': 'ADA', 'score': 1.48}, {'connected_gene': 'STK4', 'score': 1.22}, {'connected_gene': 'PIR60204', 'score': 0.77}, {'connected_gene': 'GC20P044491', 'score': 0.77}, {'connected_gene': 'GC20P044473', 'score': 0.34}]
chr20 GH20I044489 44489157 44490894 0.83 [{'connected_gene': 'GC20P044491', 'score': 550.77}, {'connected_gene': 'SERINC3', 'score': 7.25}, {'connected_gene': 'PKIG', 'score': 6.15}, {'connected_gene': 'PIR42438', 'score': 0.77}, {'connected_gene': 'TTPAL', 'score': 0.39}, {'connected_gene': 'GC20P044473', 'score': 0.37}]
chr20 GH20I044683 44683473 44685949 1.29 [{'connected_gene': 'ENSG00000132832', 'score': 44.95}, {'connected_gene': 'ADA', 'score': 18.03}, {'connected_gene': 'KCNK15', 'score': 15.97}, {'connected_gene': 'WISP2', 'score': 12.59}, {'connected_gene': 'KCNK15-AS1', 'score': 11.23}, {'connected_gene': 'SERINC3', 'score': 10.47}, {'connected_gene': 'PKIG', 'score': 10.05}, {'connected_gene': 'OSER1-AS1', 'score': 5.33}, {'connected_gene': 'LINC01260', 'score': 0.39}]