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
ENST00000396526 [[35030299, 35032381], [35036891, 35036977], [35037059, 35037219], [35044961, 35045048], [35050766, 35050806], [35055435, 35055511], [35062250, 35062356], [35066755, 35066851], [35072553, 35072677], [35074801, 35074923], [35077235, 35077346], [35078843, 35078948], [35099112, 35099315]] [[35032327, 35032381], [35036891, 35036977], [35037059, 35037219], [35044961, 35045048], [35050766, 35050806], [35055435, 35055511], [35062250, 35062356], [35066755, 35066851], [35072553, 35072677], [35074801, 35074845]]
ENST00000396534 [[35030617, 35031035], [35031098, 35032381], [35036891, 35036977], [35037059, 35037219], [35044961, 35045048], [35050766, 35050806], [35055435, 35055511], [35062250, 35062356], [35066755, 35066851], [35072553, 35072677], [35074801, 35074923], [35077235, 35077346], [35078843, 35078948], [35099112, 35099315]] [[35032327, 35032381], [35036891, 35036977], [35037059, 35037219], [35044961, 35045048], [35050766, 35050806], [35055435, 35055511], [35062250, 35062356], [35066755, 35066851], [35072553, 35072677], [35074801, 35074845]]
ENST00000362031 [[35031614, 35032381], [35036891, 35036977], [35037059, 35037219], [35044961, 35045048], [35050766, 35050806], [35055435, 35055511], [35062250, 35062356], [35066755, 35066851], [35072553, 35072677], [35074801, 35074923], [35077235, 35077346], [35078843, 35078948], [35099112, 35099160], [35099316, 35099389]] [[35032327, 35032381], [35036891, 35036977], [35037059, 35037219], [35044961, 35045048], [35050766, 35050806], [35055435, 35055511], [35062250, 35062356], [35066755, 35066851], [35072553, 35072677], [35074801, 35074923], [35077235, 35077346], [35078843, 35078948], [35099112, 35099160], [35099316, 35099358]]
ENST00000556162 [[35031865, 35032381], [35036891, 35036977], [35037059, 35037219], [35044961, 35045048], [35050766, 35050806], [35055435, 35055511], [35062250, 35062356], [35066755, 35066851], [35072553, 35072677], [35073340, 35073474], [35074801, 35074923], [35077235, 35077346], [35078843, 35078948], [35099112, 35099156], [35099316, 35099364]] [[35078935, 35078948], [35099112, 35099156], [35099316, 35099358]]
ENST00000355110 [[35031865, 35032381], [35036891, 35036977], [35037059, 35037219], [35044961, 35045048], [35050766, 35050806], [35055435, 35055511], [35062250, 35062356], [35066755, 35066851], [35072553, 35072677], [35073340, 35073474], [35074801, 35074923], [35077235, 35077346], [35078843, 35078948], [35099112, 35099156], [35099316, 35099364]] [[35032327, 35032381], [35036891, 35036977], [35037059, 35037219], [35044961, 35045048], [35050766, 35050806], [35055435, 35055511], [35062250, 35062356], [35066755, 35066851], [35072553, 35072677], [35073340, 35073396]]
ENST00000555416 [[35037097, 35037219], [35044961, 35045048], [35050766, 35050806], [35055435, 35055511], [35062250, 35062356], [35066755, 35066851], [35072553, 35072677], [35073340, 35073474], [35074801, 35074923], [35077235, 35077346], [35078843, 35078948], [35099112, 35099160], [35099316, 35099360]] [[35073392, 35073474], [35074801, 35074923], [35077235, 35077346], [35078843, 35078948], [35099112, 35099160], [35099316, 35099358]]
ENST00000555541 [[35044796, 35045048], [35055435, 35055522]] None
ENST00000556712 [[35055435, 35055511], [35062250, 35062356], [35066755, 35066851], [35072553, 35072677], [35073340, 35073380], [35074801, 35074923], [35077235, 35077346], [35078843, 35078948], [35099112, 35099160], [35099316, 35099339]] [[35072674, 35072677], [35073340, 35073380], [35074801, 35074923], [35077235, 35077346], [35078843, 35078948], [35099112, 35099160], [35099316, 35099339]]
ENST00000557265 [[35055435, 35055511], [35062250, 35062356], [35066755, 35066851], [35072553, 35072677], [35074801, 35074923], [35078843, 35078948], [35099112, 35099160], [35099316, 35099364]] [[35055435, 35055511], [35062250, 35062356], [35066755, 35066851], [35072553, 35072677], [35074801, 35074923], [35078843, 35078948], [35099112, 35099160], [35099316, 35099358]]
ENST00000557341 [[35072570, 35072677], [35073340, 35073474], [35074801, 35074923], [35078843, 35078948], [35099112, 35099160], [35099316, 35099359]] [[35073392, 35073474], [35074801, 35074923], [35078843, 35078948], [35099112, 35099160]]
ENST00000556303 [[35074692, 35074923], [35077235, 35077346], [35078843, 35078948], [35099112, 35099160], [35099316, 35099360]] None
ENST00000555648 [[35074887, 35074923], [35077235, 35077346], [35078843, 35078948], [35098663, 35098878]] [[35074887, 35074923], [35077235, 35077346], [35078843, 35078948], [35098663, 35098807]]
NM_021249 [[35030298, 35032381], [35036891, 35036977], [35037059, 35037219], [35044961, 35045048], [35050766, 35050806], [35055435, 35055511], [35062250, 35062356], [35066755, 35066851], [35072553, 35072677], [35074801, 35074923], [35077235, 35077346], [35078843, 35078948], [35099112, 35099389]] [[35032327, 35032381], [35036891, 35036977], [35037059, 35037219], [35044961, 35045048], [35050766, 35050806], [35055435, 35055511], [35062250, 35062356], [35066755, 35066851], [35072553, 35072677], [35074801, 35074845]]
NM_152233 [[35030298, 35032381], [35036891, 35036977], [35037059, 35037219], [35044961, 35045048], [35050766, 35050806], [35055435, 35055511], [35062250, 35062356], [35066755, 35066851], [35072553, 35072677], [35074801, 35074923], [35077235, 35077346], [35078843, 35078948], [35099112, 35099160], [35099316, 35099389]] [[35032327, 35032381], [35036891, 35036977], [35037059, 35037219], [35044961, 35045048], [35050766, 35050806], [35055435, 35055511], [35062250, 35062356], [35066755, 35066851], [35072553, 35072677], [35074801, 35074923], [35077235, 35077346], [35078843, 35078948], [35099112, 35099160], [35099316, 35099358]]
Promoter
Chrom Start End Description
chr14 35099317 35099369 CAGE_peak_1_at_SNX6_5end
chr14 35099377 35099388 CAGE_peak_2_at_SNX6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I034495 34495743 34499200 1.23 [{'connected_gene': 'RPS19P3', 'score': 10.2}, {'connected_gene': 'SNX6', 'score': 7.69}, {'connected_gene': 'SPTSSA', 'score': 7.49}, {'connected_gene': 'KIAA0391', 'score': 4.46}, {'connected_gene': 'RPL23AP71', 'score': 0.39}, {'connected_gene': 'EAPP', 'score': 0.26}]
chr14 GH14I034567 34567991 34570728 0.31 [{'connected_gene': 'RPS19P3', 'score': 561.1}, {'connected_gene': 'EAPP', 'score': 13.68}, {'connected_gene': 'SNX6', 'score': 8.53}]
chr14 GH14I034623 34623263 34624210 0.38 [{'connected_gene': 'SNX6', 'score': 0.44}, {'connected_gene': 'RPS19P3', 'score': 0.23}]
chr14 GH14I034621 34621605 34621701 0.23 [{'connected_gene': 'SNX6', 'score': 0.44}, {'connected_gene': 'RPS19P3', 'score': 0.23}]
chr14 GH14I034685 34685652 34686835 0.74 [{'connected_gene': 'SNX6', 'score': 4.89}, {'connected_gene': 'RPL23AP8', 'score': 0.44}, {'connected_gene': 'RNU6-1261P', 'score': 0.39}]
chr14 GH14I034628 34628407 34630977 1.97 [{'connected_gene': 'SNX6', 'score': 558.23}, {'connected_gene': 'EAPP', 'score': 10.99}, {'connected_gene': 'RPS19P3', 'score': 0.21}]
chr14 GH14I034855 34855942 34858432 1.1 [{'connected_gene': 'SNX6', 'score': 10.6}, {'connected_gene': 'FAM177A1', 'score': 10.07}, {'connected_gene': 'RPL23AP8', 'score': 8.31}, {'connected_gene': 'BAZ1A', 'score': 7.55}, {'connected_gene': 'KIAA0391', 'score': 5.07}, {'connected_gene': 'RALGAPA1', 'score': 4.26}, {'connected_gene': 'PPP2R3C', 'score': 1.87}, {'connected_gene': 'PSMA6', 'score': 1.23}, {'connected_gene': 'RNU7-41P', 'score': 0.39}, {'connected_gene': 'ENSG00000258738', 'score': 0.37}]
chr14 GH14I034860 34860957 34862506 0.31 [{'connected_gene': 'SNX6', 'score': 10.6}, {'connected_gene': 'FAM177A1', 'score': 9.23}, {'connected_gene': 'ENSG00000258738', 'score': 7.63}, {'connected_gene': 'IGBP1P1', 'score': 5.94}, {'connected_gene': 'BAZ1A', 'score': 0.39}, {'connected_gene': 'RNU7-41P', 'score': 0.37}]
chr14 GH14I034578 34578936 34582164 0.31 [{'connected_gene': 'SNX6', 'score': 19.72}, {'connected_gene': 'RNU1-27P', 'score': 12.87}, {'connected_gene': 'EAPP', 'score': 12.84}, {'connected_gene': 'SPTSSA', 'score': 9.25}, {'connected_gene': 'RPS19P3', 'score': 0.39}]
chr14 GH14I034604 34604801 34606000 1.08 [{'connected_gene': 'SNX6', 'score': 571.75}, {'connected_gene': 'RNU1-27P', 'score': 11.26}, {'connected_gene': 'EAPP', 'score': 11.24}, {'connected_gene': 'CFL2', 'score': 10.65}, {'connected_gene': 'RPS19P3', 'score': 0.28}]
chr14 GH14I034677 34677423 34678904 1.25 [{'connected_gene': 'SNX6', 'score': 5.17}, {'connected_gene': 'CFL2', 'score': 4.83}, {'connected_gene': 'EAPP', 'score': 4.63}, {'connected_gene': 'RNU6-1261P', 'score': 0.77}, {'connected_gene': 'RPL23AP8', 'score': 0.37}]
chr14 GH14I034665 34665062 34667200 0.84 [{'connected_gene': 'SNX6', 'score': 6.47}, {'connected_gene': 'RNU6-1261P', 'score': 0.44}, {'connected_gene': 'ENSG00000275978', 'score': 0.44}]
chr14 GH14I034560 34560564 34562766 0.46 [{'connected_gene': 'SNX6', 'score': 6.82}, {'connected_gene': 'LOC105370449', 'score': 0.77}, {'connected_gene': 'ENSG00000259135', 'score': 0.77}, {'connected_gene': 'RPS19P3', 'score': 0.44}]
chr14 GH14I034639 34639575 34639724 0.46 [{'connected_gene': 'SNX6', 'score': 6.57}, {'connected_gene': 'ENSG00000275978', 'score': 0.34}]
chr14 GH14I034632 34632507 34632703 0.31 [{'connected_gene': 'SNX6', 'score': 8.07}, {'connected_gene': 'ENSG00000275978', 'score': 0.31}]
chr14 GH14I034615 34615327 34615591 0.22 [{'connected_gene': 'EAPP', 'score': 1.36}, {'connected_gene': 'SNX6', 'score': 0.39}, {'connected_gene': 'RPS19P3', 'score': 0.25}]
chr14 GH14I034553 34553795 34555319 0.85 [{'connected_gene': 'RNU1-28P', 'score': 550.77}, {'connected_gene': 'EAPP', 'score': 13.76}, {'connected_gene': 'RPS19P3', 'score': 10.73}, {'connected_gene': 'SNX6', 'score': 4.95}, {'connected_gene': 'LOC105370449', 'score': 0.77}, {'connected_gene': 'GC14P034547', 'score': 0.44}]
chr14 GH14I034520 34520037 34521432 0.46 [{'connected_gene': 'RNU1-27P', 'score': 12.23}, {'connected_gene': 'RNU1-28P', 'score': 12.09}, {'connected_gene': 'RPS19P3', 'score': 12.06}, {'connected_gene': 'SNX6', 'score': 5.38}, {'connected_gene': 'EAPP', 'score': 0.37}, {'connected_gene': 'RPL23AP71', 'score': 0.29}]
chr14 GH14I034505 34505364 34506671 0.72 [{'connected_gene': 'SPTSSA', 'score': 7.23}, {'connected_gene': 'SNX6', 'score': 4.89}, {'connected_gene': 'RPL23AP71', 'score': 0.34}, {'connected_gene': 'EAPP', 'score': 0.29}]
chr14 GH14I034648 34648042 34652332 1.23 [{'connected_gene': 'CFL2', 'score': 10.77}, {'connected_gene': 'RNU1-27P', 'score': 10.32}, {'connected_gene': 'EAPP', 'score': 10.31}, {'connected_gene': 'SNX6', 'score': 4.74}, {'connected_gene': 'ENSG00000275978', 'score': 0.44}]
chr14 GH14I034536 34536701 34540767 2.27 [{'connected_gene': 'LOC105370447', 'score': 550.77}, {'connected_gene': 'EAPP', 'score': 550.77}, {'connected_gene': 'SNX6', 'score': 9.11}, {'connected_gene': 'RPL23AP71', 'score': 0.23}]
chr14 GH14I034547 34547799 34548209 0.58 [{'connected_gene': 'GC14P034547', 'score': 550.77}, {'connected_gene': 'ENSG00000259002', 'score': 550.77}, {'connected_gene': 'RNU1-27P', 'score': 550.77}, {'connected_gene': 'SNX6', 'score': 8.82}, {'connected_gene': 'RNU1-28P', 'score': 0.44}]
chr14 GH14I034548 34548401 34548800 0.89 [{'connected_gene': 'GC14P034547', 'score': 550.77}, {'connected_gene': 'RNU1-27P', 'score': 550.77}, {'connected_gene': 'SNX6', 'score': 6.11}, {'connected_gene': 'RNU1-28P', 'score': 0.44}]