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
ENST00000289672 [[47814249, 47814764], [47832224, 47832395], [47835586, 47835748], [47840246, 47840477], [47842807, 47842942], [47847844, 47847985], [47849070, 47849175], [47851414, 47851649], [47852718, 47852891], [47853528, 47853612], [47854931, 47855055], [47860673, 47860784], [47866947, 47867066], [47869022, 47869199], [47869637, 47869722], [47870814, 47870950], [47872687, 47872850], [47873936, 47873983], [47874564, 47874637], [47874730, 47874841], [47876518, 47876692], [47879043, 47879260], [47880058, 47880165], [47882559, 47882767], [47884592, 47884676], [47886476, 47886669], [47892724, 47892825], [47894479, 47894637], [47894752, 47894863], [47897202, 47897430], [47898270, 47898483], [47904813, 47904870], [47906016, 47906212], [47913496, 47913608], [47915694, 47915815], [47917086, 47917229], [47920325, 47920403], [47921506, 47921683], [47924195, 47924255], [47925283, 47925652], [47927587, 47927748], [47930139, 47930361], [47933474, 47933656], [47937584, 47937791], [47941975, 47942108], [47943974, 47944214], [47944753, 47944922], [47945439, 47945559], [47947673, 47947847], [47955028, 47955196], [47968800, 47969123], [47970700, 47970918], [47971532, 47971653], [47976442, 47976555], [47979789, 47979914], [47982992, 47983108], [47987993, 47988088]] [[47814740, 47814764], [47832224, 47832395], [47835586, 47835748], [47840246, 47840477], [47842807, 47842942], [47847844, 47847985], [47849070, 47849175], [47851414, 47851649], [47852718, 47852891], [47853528, 47853612], [47854931, 47855055], [47860673, 47860784], [47866947, 47867066], [47869022, 47869199], [47869637, 47869722], [47870814, 47870950], [47872687, 47872850], [47873936, 47873983], [47874564, 47874637], [47874730, 47874841], [47876518, 47876692], [47879043, 47879260], [47880058, 47880165], [47882559, 47882767], [47884592, 47884676], [47886476, 47886669], [47892724, 47892825], [47894479, 47894637], [47894752, 47894863], [47897202, 47897430], [47898270, 47898483], [47904813, 47904870], [47906016, 47906212], [47913496, 47913608], [47915694, 47915815], [47917086, 47917229], [47920325, 47920403], [47921506, 47921683], [47924195, 47924255], [47925283, 47925652], [47927587, 47927748], [47930139, 47930361], [47933474, 47933656], [47937584, 47937791], [47941975, 47942108], [47943974, 47944214], [47944753, 47944922], [47945439, 47945559], [47947673, 47947847], [47955028, 47955196], [47968800, 47969123], [47970700, 47970918], [47971532, 47971653], [47976442, 47976555], [47979789, 47979914], [47982992, 47983108], [47987993, 47988037]]
ENST00000483616 [[47848714, 47849175], [47851414, 47851649], [47852718, 47852891], [47853528, 47853612], [47854931, 47855055], [47860673, 47860784], [47866947, 47867064]] None
ENST00000462350 [[47849007, 47849175], [47849270, 47849360]] None
ENST00000433506 [[47849007, 47849175], [47851414, 47851649], [47852718, 47852835]] [[47849034, 47849175], [47851414, 47851649], [47852718, 47852835]]
NM_138295 [[47814249, 47814764], [47832224, 47832395], [47835586, 47835748], [47840246, 47840477], [47842807, 47842942], [47847844, 47847985], [47849070, 47849175], [47851414, 47851649], [47852718, 47852891], [47853528, 47853612], [47854931, 47855055], [47860673, 47860784], [47866947, 47867066], [47869022, 47869199], [47869637, 47869722], [47870814, 47870950], [47872687, 47872850], [47873936, 47873983], [47874564, 47874637], [47874730, 47874841], [47876518, 47876692], [47879043, 47879260], [47880058, 47880165], [47882559, 47882767], [47884592, 47884676], [47886476, 47886669], [47892724, 47892825], [47894479, 47894637], [47894752, 47894863], [47897202, 47897430], [47898270, 47898483], [47904813, 47904870], [47906016, 47906212], [47913496, 47913608], [47915694, 47915815], [47917086, 47917229], [47920325, 47920403], [47921506, 47921683], [47924195, 47924255], [47925283, 47925652], [47927587, 47927748], [47930139, 47930361], [47933474, 47933656], [47937584, 47937791], [47941975, 47942108], [47943974, 47944214], [47944753, 47944922], [47945439, 47945559], [47947673, 47947847], [47955028, 47955196], [47968800, 47969123], [47970700, 47970918], [47971532, 47971653], [47976442, 47976555], [47979789, 47979914], [47982992, 47983108], [47987993, 47988071]] [[47814740, 47814764], [47832224, 47832395], [47835586, 47835748], [47840246, 47840477], [47842807, 47842942], [47847844, 47847985], [47849070, 47849175], [47851414, 47851649], [47852718, 47852891], [47853528, 47853612], [47854931, 47855055], [47860673, 47860784], [47866947, 47867066], [47869022, 47869199], [47869637, 47869722], [47870814, 47870950], [47872687, 47872850], [47873936, 47873983], [47874564, 47874637], [47874730, 47874841], [47876518, 47876692], [47879043, 47879260], [47880058, 47880165], [47882559, 47882767], [47884592, 47884676], [47886476, 47886669], [47892724, 47892825], [47894479, 47894637], [47894752, 47894863], [47897202, 47897430], [47898270, 47898483], [47904813, 47904870], [47906016, 47906212], [47913496, 47913608], [47915694, 47915815], [47917086, 47917229], [47920325, 47920403], [47921506, 47921683], [47924195, 47924255], [47925283, 47925652], [47927587, 47927748], [47930139, 47930361], [47933474, 47933656], [47937584, 47937791], [47941975, 47942108], [47943974, 47944214], [47944753, 47944922], [47945439, 47945559], [47947673, 47947847], [47955028, 47955196], [47968800, 47969123], [47970700, 47970918], [47971532, 47971653], [47976442, 47976555], [47979789, 47979914], [47982992, 47983108], [47987993, 47988037]]
Promoter
Chrom Start End Description
chr7 47988045 47988072 CAGE_peak_1_at_PKD1L1_5end
chr7 47988099 47988115 CAGE_peak_2_at_PKD1L1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I047782 47782223 47788873 1.62 [{'connected_gene': 'LINC00525', 'score': 11.65}, {'connected_gene': 'C7orf65', 'score': 10.49}, {'connected_gene': 'TNS3', 'score': 2.21}, {'connected_gene': 'C7orf69', 'score': 0.44}, {'connected_gene': 'PKD1L1', 'score': 0.1}, {'connected_gene': 'HUS1', 'score': 0.08}]
chr7 GH07I047792 47792603 47792752 0.69 [{'connected_gene': 'C7orf69', 'score': 0.77}, {'connected_gene': 'LINC00525', 'score': 0.29}, {'connected_gene': 'PKD1L1', 'score': 0.09}, {'connected_gene': 'HUS1', 'score': 0.09}]
chr7 GH07I047791 47791495 47792591 0.52 [{'connected_gene': 'C7orf69', 'score': 0.77}, {'connected_gene': 'LINC00525', 'score': 0.29}, {'connected_gene': 'PKD1L1', 'score': 0.09}, {'connected_gene': 'HUS1', 'score': 0.09}]
chr7 GH07I047819 47819423 47819592 0.72 [{'connected_gene': 'C7orf69', 'score': 12.11}, {'connected_gene': 'C7orf65', 'score': 10.53}, {'connected_gene': 'GC07M047823', 'score': 0.44}, {'connected_gene': 'PKD1L1', 'score': 0.11}, {'connected_gene': 'HUS1', 'score': 0.1}]
chr7 GH07I047820 47819200 47819401 0.71 [{'connected_gene': 'C7orf69', 'score': 12.11}, {'connected_gene': 'C7orf65', 'score': 10.53}, {'connected_gene': 'GC07M047823', 'score': 0.44}, {'connected_gene': 'PKD1L1', 'score': 0.11}, {'connected_gene': 'HUS1', 'score': 0.1}]
chr7 GH07I047806 47806279 47806354 0.2 [{'connected_gene': 'C7orf69', 'score': 0.39}, {'connected_gene': 'GC07M047823', 'score': 0.34}, {'connected_gene': 'PKD1L1', 'score': 0.1}, {'connected_gene': 'HUS1', 'score': 0.09}]
chr7 GH07I047794 47794575 47797231 0.78 [{'connected_gene': 'C7orf69', 'score': 550.77}, {'connected_gene': 'GC07M047823', 'score': 0.29}, {'connected_gene': 'PKD1L1', 'score': 0.1}, {'connected_gene': 'HUS1', 'score': 0.09}]
chr7 GH07I047807 47806515 47807800 0.63 [{'connected_gene': 'C7orf69', 'score': 0.39}, {'connected_gene': 'GC07M047823', 'score': 0.34}, {'connected_gene': 'PKD1L1', 'score': 0.1}, {'connected_gene': 'HUS1', 'score': 0.09}]
chr7 GH07I048081 48081689 48100413 2.78 [{'connected_gene': 'UPP1', 'score': 593.36}, {'connected_gene': 'HUS1', 'score': 15.03}, {'connected_gene': 'PKD1L1', 'score': 10.69}, {'connected_gene': 'SUN3', 'score': 10.37}, {'connected_gene': 'ABCA13', 'score': 9.78}, {'connected_gene': 'ENSG00000225507', 'score': 5.0}, {'connected_gene': 'LOC105375271', 'score': 0.34}]
chr7 GH07I048011 48011601 48012200 0.4 [{'connected_gene': 'UPP1', 'score': 19.09}, {'connected_gene': 'HUS1', 'score': 11.34}, {'connected_gene': 'PKD1L1', 'score': 10.81}, {'connected_gene': 'SUN3', 'score': 0.37}, {'connected_gene': 'LOC105375270', 'score': 0.31}]
chr7 GH07I047991 47991158 47993372 1.36 [{'connected_gene': 'UPP1', 'score': 17.88}, {'connected_gene': 'PKD1L1', 'score': 10.99}, {'connected_gene': 'HUS1', 'score': 6.51}, {'connected_gene': 'ABCA13', 'score': 5.14}, {'connected_gene': 'LOC105375270', 'score': 0.44}, {'connected_gene': 'SUN3', 'score': 0.28}]
chr7 GH07I047947 47947200 47947400 0.51 [{'connected_gene': 'UPP1', 'score': 11.79}, {'connected_gene': 'ENSG00000225507', 'score': 0.44}, {'connected_gene': 'PKD1L1', 'score': 0.37}, {'connected_gene': 'HUS1', 'score': 0.29}, {'connected_gene': 'GC07M047823', 'score': 0.13}]
chr7 GH07I047949 47949727 47951931 1.09 [{'connected_gene': 'UPP1', 'score': 13.41}, {'connected_gene': 'ENSG00000225507', 'score': 0.44}, {'connected_gene': 'PKD1L1', 'score': 0.39}, {'connected_gene': 'HUS1', 'score': 0.31}, {'connected_gene': 'GC07M047823', 'score': 0.13}]
chr7 GH07I048077 48077891 48079468 0.49 [{'connected_gene': 'UPP1', 'score': 24.89}, {'connected_gene': 'PKD1L1', 'score': 10.72}, {'connected_gene': 'SUN3', 'score': 10.6}, {'connected_gene': 'C7orf57', 'score': 0.26}]
chr7 GH07I048000 48000144 48000573 0.43 [{'connected_gene': 'UPP1', 'score': 29.98}, {'connected_gene': 'PKD1L1', 'score': 10.92}, {'connected_gene': 'LOC105375270', 'score': 0.37}, {'connected_gene': 'SUN3', 'score': 0.31}]
chr7 GH07I048109 48109133 48110781 1.25 [{'connected_gene': 'UPP1', 'score': 22.53}, {'connected_gene': 'C7orf57', 'score': 11.92}, {'connected_gene': 'PKD1L1', 'score': 11.69}, {'connected_gene': 'HUS1', 'score': 11.49}, {'connected_gene': 'ABCA13', 'score': 10.8}, {'connected_gene': 'LOC105375271', 'score': 0.77}]
chr7 GH07I047771 47771081 47772773 0.58 [{'connected_gene': 'TNS3', 'score': 15.54}, {'connected_gene': 'LINC00525', 'score': 13.24}, {'connected_gene': 'C7orf69', 'score': 12.35}, {'connected_gene': 'PKD1L1', 'score': 9.45}, {'connected_gene': 'ABCA13', 'score': 9.29}, {'connected_gene': 'HUS1', 'score': 0.08}]
chr7 GH07I047478 47478802 47490020 2.15 [{'connected_gene': 'TNS3', 'score': 561.77}, {'connected_gene': 'C7orf65', 'score': 10.96}, {'connected_gene': 'C7orf69', 'score': 10.57}, {'connected_gene': 'PKD1L1', 'score': 9.01}, {'connected_gene': 'HUS1', 'score': 2.24}, {'connected_gene': 'GC07P047460', 'score': 0.34}]
chr7 GH07I047777 47777600 47779329 0.89 [{'connected_gene': 'C7orf65', 'score': 10.5}, {'connected_gene': 'TNS3', 'score': 9.95}, {'connected_gene': 'C7orf69', 'score': 0.37}, {'connected_gene': 'LINC00525', 'score': 0.37}, {'connected_gene': 'PKD1L1', 'score': 0.09}, {'connected_gene': 'HUS1', 'score': 0.08}]
chr7 GH07I047968 47968560 47971860 0.79 [{'connected_gene': 'HUS1', 'score': 13.72}, {'connected_gene': 'UPP1', 'score': 12.99}, {'connected_gene': 'PKD1L1', 'score': 0.44}]
chr7 GH07I047978 47978281 47980233 2.11 [{'connected_gene': 'HUS1', 'score': 563.83}, {'connected_gene': 'UPP1', 'score': 13.27}, {'connected_gene': 'PKD1L1', 'score': 0.39}]
chr7 GH07I047953 47953816 47955322 0.52 [{'connected_gene': 'HUS1', 'score': 23.99}, {'connected_gene': 'UPP1', 'score': 13.32}, {'connected_gene': 'ABCA13', 'score': 8.94}, {'connected_gene': 'ENSG00000225507', 'score': 0.77}, {'connected_gene': 'PKD1L1', 'score': 0.39}, {'connected_gene': 'GC07M047823', 'score': 0.13}]
chr7 GH07I047902 47902104 47902253 0.2 [{'connected_gene': 'HUS1', 'score': 10.86}, {'connected_gene': 'ENSG00000225507', 'score': 0.23}, {'connected_gene': 'PKD1L1', 'score': 0.21}, {'connected_gene': 'GC07M047823', 'score': 0.19}]
chr7 GH07I047940 47938244 47938393 0.65 [{'connected_gene': 'HUS1', 'score': 12.97}, {'connected_gene': 'ENSG00000225507', 'score': 0.37}, {'connected_gene': 'PKD1L1', 'score': 0.31}, {'connected_gene': 'GC07M047823', 'score': 0.14}]
chr7 GH07I047937 47937404 47937553 0.79 [{'connected_gene': 'PKD1L1', 'score': 13.71}, {'connected_gene': 'UPP1', 'score': 4.76}, {'connected_gene': 'ENSG00000225507', 'score': 0.37}, {'connected_gene': 'HUS1', 'score': 0.26}, {'connected_gene': 'GC07M047823', 'score': 0.14}]
chr7 GH07I048079 48079479 48080274 0.2 [{'connected_gene': 'PKD1L1', 'score': 10.71}, {'connected_gene': 'UPP1', 'score': 0.44}, {'connected_gene': 'C7orf57', 'score': 0.26}]
chr7 GH07I047290 47290420 47295904 1.27 [{'connected_gene': 'PKD1L1', 'score': 9.85}, {'connected_gene': 'GC07P047278', 'score': 0.39}, {'connected_gene': 'GC07P047441', 'score': 0.11}, {'connected_gene': 'TNS3', 'score': 0.06}]
chr7 GH07I047814 47814884 47815672 0.2 [{'connected_gene': 'PKD1L1', 'score': 10.05}, {'connected_gene': 'C7orf65', 'score': 9.78}, {'connected_gene': 'GC07M047823', 'score': 0.39}, {'connected_gene': 'C7orf69', 'score': 0.37}, {'connected_gene': 'HUS1', 'score': 0.1}]
chr7 GH07I047774 47774376 47776861 0.49 [{'connected_gene': 'PKD1L1', 'score': 13.75}, {'connected_gene': 'C7orf65', 'score': 10.3}, {'connected_gene': 'TNS3', 'score': 10.26}, {'connected_gene': 'ABCA13', 'score': 9.29}, {'connected_gene': 'LINC00525', 'score': 0.39}, {'connected_gene': 'C7orf69', 'score': 0.37}, {'connected_gene': 'HUS1', 'score': 0.08}]
chr7 GH07I047262 47262641 47262836 0.23 [{'connected_gene': 'PKD1L1', 'score': 9.86}, {'connected_gene': 'C7orf65', 'score': 8.53}, {'connected_gene': 'GC07P047278', 'score': 0.37}, {'connected_gene': 'GC07P047234', 'score': 0.31}]
chr7 GH07I047939 47939802 47943999 1.19 [{'connected_gene': 'PKD1L1', 'score': 13.97}, {'connected_gene': 'HUS1', 'score': 12.89}, {'connected_gene': 'C7orf57', 'score': 5.67}, {'connected_gene': 'UPP1', 'score': 5.39}, {'connected_gene': 'ENSG00000225507', 'score': 4.79}, {'connected_gene': 'GC07M047823', 'score': 0.14}]
chr7 GH07I047893 47893304 47893413 0.38 [{'connected_gene': 'PKD1L1', 'score': 10.86}, {'connected_gene': 'ENSG00000225507', 'score': 0.21}, {'connected_gene': 'GC07M047823', 'score': 0.21}, {'connected_gene': 'HUS1', 'score': 0.17}]
chr7 GH07I047948 47948401 47948800 0.9 [{'connected_gene': 'PKD1L1', 'score': 550.37}, {'connected_gene': 'ENSG00000225507', 'score': 0.44}, {'connected_gene': 'HUS1', 'score': 0.29}, {'connected_gene': 'GC07M047823', 'score': 0.13}]
chr7 GH07I047896 47896904 47897073 0.31 [{'connected_gene': 'PKD1L1', 'score': 10.72}, {'connected_gene': 'ENSG00000225507', 'score': 0.22}, {'connected_gene': 'GC07M047823', 'score': 0.2}, {'connected_gene': 'HUS1', 'score': 0.18}]
chr7 GH07I048133 48133304 48133493 0.2 [{'connected_gene': 'PKD1L1', 'score': 10.4}, {'connected_gene': 'LOC105375271', 'score': 0.37}, {'connected_gene': 'ABCA13', 'score': 0.28}]
chr7 GH07I047813 47813601 47814200 0.31 [{'connected_gene': 'GC07M047823', 'score': 0.39}, {'connected_gene': 'C7orf69', 'score': 0.37}, {'connected_gene': 'PKD1L1', 'score': 0.1}, {'connected_gene': 'HUS1', 'score': 0.1}]
chr7 GH07I047845 47845863 47847091 0.67 [{'connected_gene': 'GC07M047823', 'score': 0.37}, {'connected_gene': 'ENSG00000225507', 'score': 0.14}, {'connected_gene': 'PKD1L1', 'score': 0.13}, {'connected_gene': 'HUS1', 'score': 0.12}]
chr7 GH07I047946 47946401 47946600 0.76 [{'connected_gene': 'ENSG00000225507', 'score': 0.39}, {'connected_gene': 'PKD1L1', 'score': 0.37}, {'connected_gene': 'HUS1', 'score': 0.29}, {'connected_gene': 'GC07M047823', 'score': 0.13}]
chr7 GH07I047945 47945201 47945600 0.97 [{'connected_gene': 'ENSG00000225507', 'score': 0.39}, {'connected_gene': 'PKD1L1', 'score': 0.37}, {'connected_gene': 'HUS1', 'score': 0.29}, {'connected_gene': 'GC07M047823', 'score': 0.13}]
chr7 GH07I047938 47938884 47938950 0.43 [{'connected_gene': 'ENSG00000225507', 'score': 0.37}, {'connected_gene': 'PKD1L1', 'score': 0.31}, {'connected_gene': 'HUS1', 'score': 0.26}, {'connected_gene': 'GC07M047823', 'score': 0.14}]
chr7 GH07I047265 47265883 47268341 1.05 [{'connected_gene': 'ENSG00000225507', 'score': 17.16}, {'connected_gene': 'PKD1L1', 'score': 9.86}, {'connected_gene': 'GC07P047278', 'score': 0.39}, {'connected_gene': 'GC07P047234', 'score': 0.29}]

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