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
ENST00000376747 [[96453833, 96454066], [96485180, 96485307], [96489339, 96489456], [96505796, 96505911], [96506568, 96506729], [96508411, 96508594], [96511844, 96511929], [96513041, 96513137], [96515882, 96515968], [96519592, 96519677], [96529532, 96529618], [96529951, 96530110], [96536744, 96536934], [96540145, 96540225], [96543115, 96543218], [96546815, 96546911], [96547433, 96547558], [96553060, 96553192], [96555107, 96555314], [96577933, 96578028], [96579281, 96579380], [96579466, 96579590], [96589177, 96589342], [96592210, 96592345], [96599290, 96599426], [96600249, 96600335], [96601588, 96601708], [96622365, 96622516], [96624833, 96624925], [96636057, 96636118], [96638586, 96638686], [96642226, 96642327], [96648316, 96648389], [96651464, 96651561], [96665560, 96665735], [96675293, 96675406], [96675882, 96676013], [96684142, 96684225], [96705408, 96705637]] [[96454043, 96454066], [96485180, 96485307], [96489339, 96489456], [96505796, 96505911], [96506568, 96506729], [96508411, 96508594], [96511844, 96511929], [96513041, 96513137], [96515882, 96515968], [96519592, 96519677], [96529532, 96529618], [96529951, 96530110], [96536744, 96536934], [96540145, 96540225], [96543115, 96543218], [96546815, 96546911], [96547433, 96547558], [96553060, 96553192], [96555107, 96555314], [96577933, 96578028], [96579281, 96579380], [96579466, 96579590], [96589177, 96589342], [96592210, 96592345], [96599290, 96599426], [96600249, 96600335], [96601588, 96601708], [96622365, 96622516], [96624833, 96624925], [96636057, 96636118], [96638586, 96638686], [96642226, 96642327], [96648316, 96648389], [96651464, 96651561], [96665560, 96665735], [96675293, 96675406], [96675882, 96676013], [96684142, 96684225], [96705408, 96705566]]
ENST00000462472 [[96506705, 96506729], [96508411, 96508594], [96511844, 96512149]] None
ENST00000476866 [[96515687, 96515968], [96519592, 96519677], [96529532, 96529594]] None
ENST00000491509 [[96519592, 96519677], [96529532, 96529618], [96529951, 96530110], [96536744, 96536934], [96539526, 96539647], [96540145, 96540225], [96543115, 96543218], [96546815, 96546824]] None
ENST00000463054 [[96529155, 96530110], [96536744, 96536934], [96540145, 96540225], [96543115, 96543218], [96546815, 96546911], [96547433, 96547502]] None
ENST00000465196 [[96635776, 96635849], [96636057, 96636118], [96638586, 96638686], [96642226, 96642327], [96648316, 96648389], [96651464, 96651561], [96665560, 96665665]] None
ENST00000376714 [[96635777, 96635849], [96636057, 96636118], [96638586, 96638686], [96648316, 96648389], [96651464, 96651561], [96665560, 96665735], [96675293, 96675406], [96675882, 96676013], [96684142, 96684225], [96705408, 96705736]] [[96638679, 96638686], [96648316, 96648389], [96651464, 96651561], [96665560, 96665735], [96675293, 96675406], [96675882, 96676013], [96684142, 96684225], [96705408, 96705566]]
ENST00000461329 [[96637157, 96637591], [96638586, 96638686], [96642226, 96642327], [96648316, 96648389], [96651464, 96651561]] None
ENST00000397618 [[96637163, 96637591], [96638586, 96638686], [96642226, 96642327], [96648316, 96648389], [96651464, 96651561], [96665560, 96665735], [96675293, 96675406], [96675882, 96676013], [96684142, 96684225], [96705408, 96705654]] [[96637503, 96637591], [96638586, 96638686], [96642226, 96642327], [96648316, 96648389], [96651464, 96651561], [96665560, 96665735], [96675293, 96675406], [96675882, 96676013], [96684142, 96684225], [96705408, 96705566]]
ENST00000467305 [[96637300, 96637591], [96638586, 96638686], [96641774, 96641852], [96642226, 96642327], [96648316, 96648389], [96651464, 96651561], [96665560, 96665730]] None
ENST00000376712 [[96642398, 96643727], [96648316, 96648389], [96651464, 96651561], [96665560, 96665735], [96675293, 96675406], [96675882, 96676013], [96684142, 96684225], [96705408, 96705647]] [[96643714, 96643727], [96648316, 96648389], [96651464, 96651561], [96665560, 96665735], [96675293, 96675406], [96675882, 96676013], [96684142, 96684225], [96705408, 96705566]]
NM_020121 [[96453833, 96454066], [96485180, 96485307], [96489339, 96489456], [96505796, 96505911], [96506568, 96506729], [96508411, 96508594], [96511844, 96511929], [96513041, 96513137], [96515882, 96515968], [96519592, 96519677], [96529532, 96529618], [96529951, 96530110], [96536744, 96536934], [96540145, 96540225], [96543115, 96543218], [96546815, 96546911], [96547433, 96547558], [96553060, 96553192], [96555107, 96555314], [96577933, 96578028], [96579281, 96579380], [96579466, 96579590], [96589177, 96589342], [96592210, 96592345], [96599290, 96599426], [96600249, 96600335], [96601588, 96601708], [96622365, 96622516], [96624833, 96624925], [96636057, 96636118], [96638586, 96638686], [96642226, 96642327], [96648316, 96648389], [96651464, 96651561], [96665560, 96665735], [96675293, 96675406], [96675882, 96676013], [96684142, 96684225], [96705408, 96705736]] [[96454043, 96454066], [96485180, 96485307], [96489339, 96489456], [96505796, 96505911], [96506568, 96506729], [96508411, 96508594], [96511844, 96511929], [96513041, 96513137], [96515882, 96515968], [96519592, 96519677], [96529532, 96529618], [96529951, 96530110], [96536744, 96536934], [96540145, 96540225], [96543115, 96543218], [96546815, 96546911], [96547433, 96547558], [96553060, 96553192], [96555107, 96555314], [96577933, 96578028], [96579281, 96579380], [96579466, 96579590], [96589177, 96589342], [96592210, 96592345], [96599290, 96599426], [96600249, 96600335], [96601588, 96601708], [96622365, 96622516], [96624833, 96624925], [96636057, 96636118], [96638586, 96638686], [96642226, 96642327], [96648316, 96648389], [96651464, 96651561], [96665560, 96665735], [96675293, 96675406], [96675882, 96676013], [96684142, 96684225], [96705408, 96705566]]
Promoter
Chrom Start End Description
chr13 96705608 96705619 CAGE_peak_2_at_UGGT2_5end
chr13 96705624 96705677 CAGE_peak_1_at_UGGT2_5end
chr13 96706062 96706067 CAGE_peak_3_at_UGGT2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I095675 95675139 95678801 2.05 [{'connected_gene': 'DNAJC3', 'score': 564.34}, {'connected_gene': 'DNAJC3-AS1', 'score': 550.77}, {'connected_gene': 'DZIP1', 'score': 19.93}, {'connected_gene': 'UGGT2', 'score': 14.38}]
chr13 GH13I095775 95775148 95775391 0.25 [{'connected_gene': 'UGGT2', 'score': 9.04}, {'connected_gene': 'GC13P095793', 'score': 0.37}, {'connected_gene': 'ENSG00000276809', 'score': 0.29}, {'connected_gene': 'DNAJC3', 'score': 0.15}]
chr13 GH13I095783 95783588 95785408 0.79 [{'connected_gene': 'UGGT2', 'score': 14.72}, {'connected_gene': 'GC13P095793', 'score': 0.44}, {'connected_gene': 'ENSG00000276809', 'score': 0.28}, {'connected_gene': 'DNAJC3', 'score': 0.14}]
chr13 GH13I096104 96104627 96104776 0.57 [{'connected_gene': 'UGGT2', 'score': 10.13}, {'connected_gene': 'HS6ST3', 'score': 0.39}, {'connected_gene': 'RN7SL164P', 'score': 0.21}]
chr13 GH13I096294 96294927 96296564 0.43 [{'connected_gene': 'UGGT2', 'score': 9.09}, {'connected_gene': 'GC13P096305', 'score': 0.44}, {'connected_gene': 'GC13M096277', 'score': 0.37}, {'connected_gene': 'HS6ST3', 'score': 0.08}]
chr13 GH13I096342 96342864 96343757 0.2 [{'connected_gene': 'UGGT2', 'score': 7.98}, {'connected_gene': 'GC13M096368', 'score': 0.28}, {'connected_gene': 'GC13P096305', 'score': 0.26}, {'connected_gene': 'HS6ST3', 'score': 0.07}]
chr13 GH13I095714 95714067 95715486 0.88 [{'connected_gene': 'UGGT2', 'score': 14.43}, {'connected_gene': 'PIR47331', 'score': 0.44}, {'connected_gene': 'MTCYBP3', 'score': 0.34}, {'connected_gene': 'DNAJC3', 'score': 0.28}]
chr13 GH13I095707 95707169 95708800 0.63 [{'connected_gene': 'UGGT2', 'score': 15.24}, {'connected_gene': 'MTCYBP3', 'score': 0.39}, {'connected_gene': 'PIR47331', 'score': 0.37}, {'connected_gene': 'DNAJC3', 'score': 0.29}]
chr13 GH13I095953 95953731 95955448 0.43 [{'connected_gene': 'UGGT2', 'score': 24.33}, {'connected_gene': 'GC13M095889', 'score': 0.22}, {'connected_gene': 'GC13P096022', 'score': 0.2}]
chr13 GH13I095924 95924248 95924876 0.72 [{'connected_gene': 'UGGT2', 'score': 24.24}, {'connected_gene': 'GC13M095889', 'score': 0.31}, {'connected_gene': 'GC13P096022', 'score': 0.15}]
chr13 GH13I096019 96019159 96021362 0.77 [{'connected_gene': 'UGGT2', 'score': 20.26}, {'connected_gene': 'GC13P096022', 'score': 0.77}, {'connected_gene': 'GC13M095889', 'score': 0.13}]
chr13 GH13I096052 96052400 96054200 2.01 [{'connected_gene': 'UGGT2', 'score': 570.56}, {'connected_gene': 'GC13P096022', 'score': 0.29}]
chr13 GH13I095999 95999649 96000816 0.46 [{'connected_gene': 'HS6ST3', 'score': 15.14}, {'connected_gene': 'UGGT2', 'score': 14.24}, {'connected_gene': 'GC13P096022', 'score': 0.34}, {'connected_gene': 'GC13M095889', 'score': 0.15}]
chr13 GH13I096089 96089808 96091201 1.8 [{'connected_gene': 'HS6ST3', 'score': 550.77}, {'connected_gene': 'UGGT2', 'score': 9.11}]
chr13 GH13I096034 96034392 96035476 0.31 [{'connected_gene': 'HS6ST3', 'score': 15.2}, {'connected_gene': 'GC13P096022', 'score': 0.39}, {'connected_gene': 'UGGT2', 'score': 0.37}]
chr13 GH13I095835 95835829 95836026 0.22 [{'connected_gene': 'DZIP1', 'score': 10.49}, {'connected_gene': 'DNAJC3', 'score': 6.15}, {'connected_gene': 'HMGN1P24', 'score': 0.31}, {'connected_gene': 'GC13M095889', 'score': 0.21}, {'connected_gene': 'UGGT2', 'score': 0.08}]
chr13 GH13I095679 95679267 95679416 0.31 [{'connected_gene': 'DZIP1', 'score': 11.27}, {'connected_gene': 'UGGT2', 'score': 5.58}, {'connected_gene': 'DNAJC3', 'score': 0.77}, {'connected_gene': 'MTND5P2', 'score': 0.39}]
chr13 GH13I096274 96274344 96275423 0.69 [{'connected_gene': 'DZIP1', 'score': 22.12}, {'connected_gene': 'UGGT2', 'score': 15.69}, {'connected_gene': 'GC13M096277', 'score': 0.77}, {'connected_gene': 'GC13M096146', 'score': 0.37}, {'connected_gene': 'HS6ST3', 'score': 0.09}]
chr13 GH13I095642 95642957 95645253 1.84 [{'connected_gene': 'DZIP1', 'score': 562.24}, {'connected_gene': 'UGGT2', 'score': 11.38}, {'connected_gene': 'DNAJC3-AS1', 'score': 10.69}, {'connected_gene': 'CLDN10', 'score': 4.31}, {'connected_gene': 'GC13M095581', 'score': 0.22}]
chr13 GH13I095834 95834200 95834600 0.89 [{'connected_gene': 'DZIP1', 'score': 11.01}, {'connected_gene': 'HMGN1P24', 'score': 0.34}, {'connected_gene': 'GC13M095889', 'score': 0.21}, {'connected_gene': 'UGGT2', 'score': 0.08}]
chr13 GH13I095554 95554001 95554400 0.49 [{'connected_gene': 'CLDN10-AS1', 'score': 5.76}, {'connected_gene': 'UGGT2', 'score': 4.57}, {'connected_gene': 'GC13P095540', 'score': 0.39}, {'connected_gene': 'GC13M095580', 'score': 0.34}, {'connected_gene': 'CLDN10', 'score': 0.13}]
chr13 GH13I096649 96649821 96651110 0.54 [{'connected_gene': 'GC13P096650', 'score': 550.77}, {'connected_gene': 'UGGT2', 'score': 6.39}, {'connected_gene': 'HSP90AB6P', 'score': 0.07}, {'connected_gene': 'HS6ST3', 'score': 0.03}]
chr13 GH13I096001 96001401 96001600 0.2 [{'connected_gene': 'GC13P096022', 'score': 0.34}, {'connected_gene': 'UGGT2', 'score': 0.23}, {'connected_gene': 'GC13M095889', 'score': 0.15}]
chr13 GH13I095540 95540511 95541639 0.31 [{'connected_gene': 'GC13P095540', 'score': 550.77}, {'connected_gene': 'DZIP1', 'score': 10.84}, {'connected_gene': 'CLDN10', 'score': 9.26}, {'connected_gene': 'UGGT2', 'score': 6.13}, {'connected_gene': 'DNAJC3', 'score': 4.65}, {'connected_gene': 'GC13M095580', 'score': 0.28}]
chr13 GH13I095858 95858724 95859400 0.84 [{'connected_gene': 'GC13M095889', 'score': 0.28}, {'connected_gene': 'HMGN1P24', 'score': 0.25}, {'connected_gene': 'UGGT2', 'score': 0.08}]
chr13 GH13I095896 95896407 95896556 0.62 [{'connected_gene': 'GC13M095889', 'score': 550.77}, {'connected_gene': 'HMGN1P24', 'score': 0.17}, {'connected_gene': 'UGGT2', 'score': 0.1}]