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
ENST00000356918 [[130745693, 130745850], [130748456, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130903545, 130903595]] [[130748552, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130903545, 130903595]]
ENST00000510769 [[130745693, 130745850], [130748456, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130947371, 130947532], [130962279, 130962340], [130992321, 130992418], [131068400, 131068893]] [[130748552, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130947371, 130947532], [130962279, 130962340], [130992321, 130992418], [131068400, 131068620]]
ENST00000429253 [[130745693, 130745850], [130748456, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130947371, 130947532], [130962279, 130962340], [130992321, 130992418], [131068400, 131069308]] [[130748552, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130947371, 130947532], [130962279, 130962340], [130992321, 130992418], [131068400, 131068620]]
ENST00000506695 [[130745722, 130746846], [130748456, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130853122]] None
ENST00000510688 [[130745722, 130745850], [130748456, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130947371, 130947532], [130962279, 130962340], [131068400, 131069309]] [[130748552, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130947371, 130947532], [130962279, 130962340], [131068400, 131068579]]
ENST00000511262 [[130745726, 130745850], [130746773, 130746846], [130748456, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130893610, 130893974]] [[130748552, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130893610, 130893624]]
ENST00000383366 [[130745726, 130745850], [130746773, 130746846], [130748456, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130947371, 130947532], [130962279, 130962340], [130992321, 130992418], [131068400, 131069303]] [[130748552, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130947371, 130947532], [130962279, 130962340], [130992321, 130992418], [131068400, 131068620]]
ENST00000514915 [[130745766, 130745850], [130748456, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852120, 130852199], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130947371, 130947532], [130962279, 130962340], [130992321, 130992418], [131068400, 131069286]] [[130748552, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852120, 130852199], [130852673, 130852713]]
ENST00000510474 [[130745778, 130745850], [130748456, 130748722], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130889616, 130889731], [130947371, 130947532], [130962279, 130962340], [130992321, 130992418], [131068400, 131069125]] [[130748552, 130748722], [130828646, 130828716]]
ENST00000412440 [[130745778, 130745850], [130748456, 130748722], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130889616, 130889731], [130947371, 130947532], [130962279, 130962340], [130992321, 130992418], [131068400, 131069125]] [[130828754, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130889616, 130889731], [130947371, 130947532], [130962279, 130962340], [130992321, 130992418], [131068400, 131068620]]
ENST00000507910 [[130746572, 130746846], [130748456, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130903545, 130903617]] [[130748552, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130903545, 130903595]]
ENST00000508196 [[130748552, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130947371, 130947532], [130962279, 130962340], [130992321, 130992418], [131068400, 131068620]] [[130748552, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130947371, 130947532], [130962279, 130962340], [130992321, 130992418], [131068400, 131068620]]
ENST00000602792 [[130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871413]] [[130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871413]]
ENST00000426022 [[130806850, 130806991], [130828646, 130828765], [130851588, 130851653], [130852089, 130852199], [130852673, 130852800], [130871231, 130871381], [130871474, 130871547]] None
ENST00000510823 [[130884120, 130884363], [130887673, 130887781], [130889616, 130889731], [130947371, 130947439]] None
ENST00000513550 [[130745755, 130746062], [130748456, 130748657]] None
ENST00000507967 [[130745794, 130746046], [130746773, 130746846], [130748456, 130748722]] None
ENST00000510926 [[130828243, 130828347], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873911]] None
ENST00000515636 [[130873713, 130873965], [130881251, 130881371], [130884269, 130884367]] None
NM_145910 [[130745693, 130745850], [130746773, 130746846], [130748456, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130893610, 130893982]] [[130748552, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130893610, 130893624]]
NM_001321224 [[130745693, 130745850], [130748456, 130748722], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130889616, 130889731], [130947371, 130947532], [130962279, 130962340], [130992321, 130992418], [131068400, 131069309]] [[130828754, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130889616, 130889731], [130947371, 130947532], [130962279, 130962340], [130992321, 130992418], [131068400, 131068620]]
NM_001321222 [[130745693, 130745850], [130748456, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130947371, 130947532], [130962279, 130962340], [130992321, 130992418], [131068400, 131069309]] [[130748552, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130947371, 130947532], [130962279, 130962340], [130992321, 130992418], [131068400, 131068620]]
NM_001146003 [[130745693, 130745850], [130748456, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130947371, 130947532], [130962279, 130962340], [131068400, 131069309]] [[130748552, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130947371, 130947532], [130962279, 130962340], [131068400, 131068579]]
NM_001321220 [[130745693, 130745850], [130748456, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130947371, 130947532], [130962279, 130962340], [130992321, 130992418], [131068400, 131069309]] [[130748552, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130947371, 130947532], [130962279, 130962340], [130992321, 130992418], [131068400, 131068620]]
NM_024800 [[130745693, 130745850], [130746773, 130746846], [130748456, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130947371, 130947532], [130962279, 130962340], [130992321, 130992418], [131068400, 131069309]] [[130748552, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130947371, 130947532], [130962279, 130962340], [130992321, 130992418], [131068400, 131068620]]
NM_001321221 [[130745693, 130745850], [130746773, 130746846], [130748456, 130748722], [130799266, 130799432], [130816453, 130816579], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130947371, 130947532], [130962279, 130962340], [130992321, 130992418], [131068400, 131069309]] [[130748552, 130748722], [130799266, 130799432], [130816453, 130816579], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130947371, 130947532], [130962279, 130962340], [130992321, 130992418], [131068400, 131068620]]
NM_001321223 [[130746571, 130746846], [130748456, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130903545, 130903617]] [[130748552, 130748722], [130799266, 130799432], [130828646, 130828765], [130851588, 130851653], [130852673, 130852800], [130871231, 130871381], [130871474, 130871553], [130873879, 130873965], [130881251, 130881371], [130884269, 130884363], [130887673, 130887781], [130889616, 130889731], [130903545, 130903595]]
Promoter
Chrom Start End Description
chr3 130745688 130745761 CAGE_peak_1_at_NEK11_5end
chr3 130745769 130745802 CAGE_peak_2_at_NEK11_5end
chr3 130828200 130828211 CAGE_peak_10_at_NEK11_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I131337 131337947 131338295 0.22 [{'connected_gene': 'NEK11', 'score': 5.48}, {'connected_gene': 'GC03P131359', 'score': 0.34}, {'connected_gene': 'LOC339874', 'score': 0.26}, {'connected_gene': 'RNU6-726P', 'score': 0.07}, {'connected_gene': 'GC03M131093', 'score': 0.07}]
chr3 GH03I131020 131020201 131020726 0.72 [{'connected_gene': 'NEK11', 'score': 19.51}, {'connected_gene': 'ASTE1', 'score': 0.44}, {'connected_gene': 'ENSG00000250592', 'score': 0.16}]
chr3 GH03I131024 131024900 131027678 2.01 [{'connected_gene': 'NEK11', 'score': 570.94}, {'connected_gene': 'ASTE1', 'score': 550.77}, {'connected_gene': 'ENSG00000250592', 'score': 0.15}]
chr3 GH03I130905 130905048 130906025 0.63 [{'connected_gene': 'NEK11', 'score': 17.16}, {'connected_gene': 'GC03M130915', 'score': 0.44}, {'connected_gene': 'ENSG00000252894', 'score': 0.44}, {'connected_gene': 'ENSG00000250592', 'score': 0.34}, {'connected_gene': 'ENSG00000284095', 'score': 0.28}, {'connected_gene': 'ATP2C1', 'score': 0.22}]
chr3 GH03I131082 131082456 131083851 0.62 [{'connected_gene': 'NEK11', 'score': 21.01}, {'connected_gene': 'RNU6-726P', 'score': 0.44}, {'connected_gene': 'GC03M131093', 'score': 0.44}, {'connected_gene': 'ENSG00000250129', 'score': 0.39}]
chr3 GH03I131107 131107664 131110846 0.9 [{'connected_gene': 'NEK11', 'score': 20.15}, {'connected_gene': 'RNU6-726P', 'score': 0.37}, {'connected_gene': 'GC03M131093', 'score': 0.37}, {'connected_gene': 'GC03P131359', 'score': 0.07}]
chr3 GH03I131371 131371201 131372199 0.82 [{'connected_gene': 'SNORA58', 'score': 9.72}, {'connected_gene': 'NEK11', 'score': 7.02}, {'connected_gene': 'NUDT16', 'score': 6.68}, {'connected_gene': 'NUDT16P1', 'score': 0.44}, {'connected_gene': 'LOC339874', 'score': 0.44}]
chr3 GH03I131221 131221212 131222374 0.2 [{'connected_gene': 'ASTE1', 'score': 9.86}, {'connected_gene': 'NEK11', 'score': 9.86}, {'connected_gene': 'NUDT16P1', 'score': 4.92}, {'connected_gene': 'RNU6-726P', 'score': 0.13}, {'connected_gene': 'GC03M131093', 'score': 0.13}, {'connected_gene': 'GC03P131359', 'score': 0.12}]
chr3 GH03I130848 130848361 130854848 2.41 [{'connected_gene': 'ATP2C1', 'score': 550.77}, {'connected_gene': 'NEK11', 'score': 11.96}, {'connected_gene': 'FAM86HP', 'score': 4.4}, {'connected_gene': 'ENSG00000284095', 'score': 0.37}]
chr3 GH03I130892 130892650 130896174 1.99 [{'connected_gene': 'ATP2C1', 'score': 550.26}, {'connected_gene': 'NEK11', 'score': 19.43}, {'connected_gene': 'GC03M130915', 'score': 0.34}, {'connected_gene': 'ENSG00000252894', 'score': 0.34}, {'connected_gene': 'ENSG00000284095', 'score': 0.31}]
chr3 GH03I131360 131360800 131362939 1.44 [{'connected_gene': 'NUDT16P1', 'score': 565.56}, {'connected_gene': 'GC03M131359', 'score': 550.77}, {'connected_gene': 'NEK11', 'score': 5.92}, {'connected_gene': 'LOC339874', 'score': 0.37}]
chr3 GH03I131215 131215973 131218885 0.98 [{'connected_gene': 'NUDT16P1', 'score': 7.39}, {'connected_gene': 'NUDT16', 'score': 4.61}, {'connected_gene': 'RNU6-726P', 'score': 0.13}, {'connected_gene': 'GC03M131093', 'score': 0.13}, {'connected_gene': 'GC03P131359', 'score': 0.11}, {'connected_gene': 'NEK11', 'score': 0.08}]
chr3 GH03I131349 131349507 131350856 0.82 [{'connected_gene': 'NUDT16', 'score': 11.41}, {'connected_gene': 'LOC339874', 'score': 11.41}, {'connected_gene': 'GC03P131359', 'score': 0.44}, {'connected_gene': 'RNU6-726P', 'score': 0.07}, {'connected_gene': 'GC03M131093', 'score': 0.07}, {'connected_gene': 'NEK11', 'score': 0.05}]
chr3 GH03I131122 131122520 131122618 0.22 [{'connected_gene': 'RNU6-726P', 'score': 0.31}, {'connected_gene': 'GC03M131093', 'score': 0.31}, {'connected_gene': 'NEK11', 'score': 0.15}, {'connected_gene': 'GC03P131359', 'score': 0.07}]
chr3 GH03I131174 131174801 131175000 0.31 [{'connected_gene': 'RNU6-726P', 'score': 0.18}, {'connected_gene': 'GC03M131093', 'score': 0.18}, {'connected_gene': 'NEK11', 'score': 0.11}, {'connected_gene': 'GC03P131359', 'score': 0.09}]
chr3 GH03I130843 130843063 130844059 0.31 [{'connected_gene': 'LOC105374108', 'score': 550.77}, {'connected_gene': 'NEK11', 'score': 5.98}, {'connected_gene': 'ASTE1', 'score': 4.55}, {'connected_gene': 'GSTO3P', 'score': 0.37}]
chr3 GH03I130919 130919138 130919600 0.43 [{'connected_gene': 'LOC100420832', 'score': 550.77}, {'connected_gene': 'NEK11', 'score': 17.54}, {'connected_gene': 'LOC100420298', 'score': 0.44}, {'connected_gene': 'ENSG00000250592', 'score': 0.39}, {'connected_gene': 'ATP2C1', 'score': 0.2}]
chr3 GH03I130974 130974863 130975871 0.2 [{'connected_gene': 'ENSG00000250592', 'score': 0.25}, {'connected_gene': 'NEK11', 'score': 0.23}, {'connected_gene': 'ATP2C1', 'score': 0.13}]
chr3 GH03I130962 130962763 130965428 0.89 [{'connected_gene': 'ENSG00000250592', 'score': 0.29}, {'connected_gene': 'NEK11', 'score': 0.21}, {'connected_gene': 'ATP2C1', 'score': 0.14}]
chr3 GH03I131078 131078017 131078166 0.31 [{'connected_gene': 'ENSG00000250129', 'score': 0.44}, {'connected_gene': 'RNU6-726P', 'score': 0.39}, {'connected_gene': 'GC03M131093', 'score': 0.39}, {'connected_gene': 'NEK11', 'score': 0.23}]
chr3 GH03I131072 131072001 131073187 1.07 [{'connected_gene': 'ENSG00000250129', 'score': 550.77}, {'connected_gene': 'RNU6-726P', 'score': 0.34}, {'connected_gene': 'GC03M131093', 'score': 0.34}, {'connected_gene': 'NEK11', 'score': 0.25}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.