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
ENST00000555000 [[88304163, 88304577], [88359699, 88359817], [88400242, 88400343], [88406248, 88406325], [88407738, 88407902], [88411896, 88412077], [88414071, 88414222], [88416188, 88416275], [88417002, 88417092], [88429727, 88429855], [88431848, 88431973], [88434678, 88434834], [88442701, 88442832], [88446848, 88446992]] [[88400316, 88400343], [88406248, 88406325], [88407738, 88407902], [88411896, 88412077], [88414071, 88414222], [88416188, 88416275], [88417002, 88417092], [88429727, 88429855], [88431848, 88431973], [88434678, 88434834], [88442701, 88442820]]
ENST00000261304 [[88399357, 88401222], [88406248, 88406325], [88407738, 88407902], [88411896, 88412077], [88414071, 88414222], [88416188, 88416275], [88417002, 88417092], [88429727, 88429855], [88431848, 88431973], [88434678, 88434834], [88442701, 88442832], [88448548, 88448587], [88450737, 88450877], [88452832, 88452946], [88454487, 88454551], [88454798, 88454867], [88459313, 88459615]] [[88401075, 88401222], [88406248, 88406325], [88407738, 88407902], [88411896, 88412077], [88414071, 88414222], [88416188, 88416275], [88417002, 88417092], [88429727, 88429855], [88431848, 88431973], [88434678, 88434834], [88442701, 88442832], [88448548, 88448587], [88450737, 88450877], [88452832, 88452946], [88454487, 88454551], [88454798, 88454867], [88459313, 88459508]]
ENST00000544807 [[88400066, 88400343], [88406248, 88406325], [88407738, 88407902], [88411896, 88412077], [88414071, 88414222], [88416188, 88416275], [88417002, 88417092], [88429727, 88429855], [88431848, 88431973], [88434678, 88434834], [88442701, 88442832], [88448548, 88448587], [88450737, 88450877], [88452832, 88452946], [88454487, 88454551], [88454798, 88454867], [88458647, 88459182]] [[88400316, 88400343], [88406248, 88406325], [88407738, 88407902], [88411896, 88412077], [88414071, 88414222], [88416188, 88416275], [88417002, 88417092], [88429727, 88429855], [88431848, 88431973], [88434678, 88434834], [88442701, 88442832], [88448548, 88448587], [88450737, 88450877], [88452832, 88452946], [88454487, 88454551], [88454798, 88454867], [88458647, 88458674]]
ENST00000393569 [[88400674, 88401222], [88406248, 88406325], [88407738, 88407902], [88411896, 88412077], [88414071, 88414222], [88416188, 88416275], [88417002, 88417092], [88429727, 88429855], [88431848, 88431973], [88434678, 88434834], [88442701, 88442832], [88448548, 88448587], [88450737, 88450877], [88452832, 88452946], [88454487, 88454551], [88454798, 88454867], [88459726, 88460009]] [[88401075, 88401222], [88406248, 88406325], [88407738, 88407902], [88411896, 88412077], [88414071, 88414222], [88416188, 88416275], [88417002, 88417092], [88429727, 88429855], [88431848, 88431973], [88434678, 88434834], [88442701, 88442832], [88448548, 88448587], [88450737, 88450877], [88452832, 88452946], [88454487, 88454551], [88454798, 88454867], [88459726, 88459843]]
ENST00000393568 [[88401024, 88401222], [88406248, 88406325], [88407738, 88407902], [88411896, 88412077], [88414071, 88414222], [88416188, 88416275], [88417002, 88417092], [88429727, 88429855], [88431848, 88431973], [88434678, 88434834], [88442701, 88442832], [88448548, 88448587], [88450737, 88450877], [88452832, 88452946], [88454487, 88454551], [88459313, 88459522]] [[88401075, 88401222], [88406248, 88406325], [88407738, 88407902], [88411896, 88412077], [88414071, 88414222], [88416188, 88416275], [88417002, 88417092], [88429727, 88429855], [88431848, 88431973], [88434678, 88434834], [88442701, 88442832], [88448548, 88448587], [88450737, 88450877], [88452832, 88452946], [88454487, 88454551], [88459313, 88459508]]
ENST00000555179 [[88401115, 88401222], [88406248, 88406325], [88407738, 88407902], [88414071, 88414222], [88416188, 88416243]] [[88407891, 88407902], [88414071, 88414222], [88416188, 88416243]]
ENST00000557316 [[88407738, 88407902], [88411896, 88412077], [88414071, 88414222], [88416188, 88416275], [88417002, 88417092], [88429727, 88429855], [88431848, 88431973], [88434678, 88434834], [88442701, 88442832], [88447757, 88447791], [88448548, 88448587], [88450737, 88450877], [88452832, 88452946], [88454487, 88454551], [88454798, 88454867], [88459313, 88459514]] [[88447776, 88447791], [88448548, 88448587], [88450737, 88450877], [88452832, 88452946], [88454487, 88454551], [88454798, 88454867], [88459313, 88459508]]
ENST00000557520 [[88425896, 88426057], [88429727, 88429855], [88431848, 88431967]] None
ENST00000474294 [[88429615, 88429855], [88431848, 88431973], [88434678, 88434834], [88442701, 88442832], [88448548, 88448587], [88450737, 88450877], [88452832, 88452946], [88454487, 88454551], [88454798, 88454867], [88459313, 88459498]] None
ENST00000477716 [[88434736, 88434834], [88442701, 88443208]] None
ENST00000554916 [[88442701, 88442832], [88448548, 88448587], [88450737, 88450877], [88452832, 88452946], [88454487, 88454551], [88454798, 88454867], [88455917, 88455991]] None
ENST00000556261 [[88447546, 88447791], [88448548, 88448587], [88450737, 88450877], [88452832, 88452946], [88454487, 88454516]] None
ENST00000554372 [[88448548, 88448587], [88450737, 88450877], [88452832, 88452946], [88453312, 88453400], [88454487, 88454551], [88454798, 88454867], [88459313, 88459516]] [[88453389, 88453400], [88454487, 88454551], [88454798, 88454867], [88459313, 88459508]]
ENST00000556879 [[88450784, 88450877], [88452832, 88452946], [88454487, 88454551], [88454798, 88454867], [88458647, 88458749], [88459313, 88459466]] [[88458713, 88458749], [88459313, 88459466]]
ENST00000555956 [[88454095, 88454551], [88454798, 88454867]] None
NM_000153 [[88399357, 88401222], [88406248, 88406325], [88407738, 88407902], [88411896, 88412077], [88414071, 88414222], [88416188, 88416275], [88417002, 88417092], [88429727, 88429855], [88431848, 88431973], [88434678, 88434834], [88442701, 88442832], [88448548, 88448587], [88450737, 88450877], [88452832, 88452946], [88454487, 88454551], [88454798, 88454867], [88459313, 88459615]] [[88401075, 88401222], [88406248, 88406325], [88407738, 88407902], [88411896, 88412077], [88414071, 88414222], [88416188, 88416275], [88417002, 88417092], [88429727, 88429855], [88431848, 88431973], [88434678, 88434834], [88442701, 88442832], [88448548, 88448587], [88450737, 88450877], [88452832, 88452946], [88454487, 88454551], [88454798, 88454867], [88459313, 88459508]]
NM_001201401 [[88399357, 88401222], [88406248, 88406325], [88407738, 88407902], [88411896, 88412077], [88414071, 88414222], [88416188, 88416275], [88417002, 88417092], [88429727, 88429855], [88431848, 88431973], [88434678, 88434834], [88442701, 88442832], [88448548, 88448587], [88450737, 88450877], [88452832, 88452946], [88454487, 88454551], [88459313, 88459615]] [[88401075, 88401222], [88406248, 88406325], [88407738, 88407902], [88411896, 88412077], [88414071, 88414222], [88416188, 88416275], [88417002, 88417092], [88429727, 88429855], [88431848, 88431973], [88434678, 88434834], [88442701, 88442832], [88448548, 88448587], [88450737, 88450877], [88452832, 88452946], [88454487, 88454551], [88459313, 88459508]]
NM_001201402 [[88399357, 88401222], [88406248, 88406325], [88407738, 88407902], [88411896, 88412077], [88414071, 88414222], [88416188, 88416275], [88417002, 88417092], [88429727, 88429855], [88431848, 88431973], [88434678, 88434834], [88442701, 88442832], [88448548, 88448587], [88450737, 88450877], [88452832, 88452946], [88454487, 88454551], [88454798, 88454867], [88459726, 88460009]] [[88401075, 88401222], [88406248, 88406325], [88407738, 88407902], [88411896, 88412077], [88414071, 88414222], [88416188, 88416275], [88417002, 88417092], [88429727, 88429855], [88431848, 88431973], [88434678, 88434834], [88442701, 88442832], [88448548, 88448587], [88450737, 88450877], [88452832, 88452946], [88454487, 88454551], [88454798, 88454867], [88459726, 88459843]]
Promoter
Chrom Start End Description
chr14 88459189 88459236 CAGE_peak_6_at_GALC_5end
chr14 88459407 88459418 CAGE_peak_4_at_GALC_5end
chr14 88459424 88459442 CAGE_peak_5_at_GALC_5end
chr14 88459457 88459484 CAGE_peak_2_at_GALC_5end
chr14 88459487 88459500 CAGE_peak_3_at_GALC_5end
chr14 88459503 88459546 CAGE_peak_1_at_GALC_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I087998 87998083 87999800 0.83 [{'connected_gene': 'GPR65', 'score': 7.87}, {'connected_gene': 'GALC', 'score': 6.17}, {'connected_gene': 'RNU6-835P', 'score': 0.77}]
chr14 GH14I088004 88004507 88010689 2.51 [{'connected_gene': 'GPR65', 'score': 588.95}, {'connected_gene': 'GALC', 'score': 34.5}, {'connected_gene': 'ENSG00000258407', 'score': 0.44}]
chr14 GH14I088019 88019031 88020970 0.31 [{'connected_gene': 'SPATA7', 'score': 10.41}, {'connected_gene': 'GALC', 'score': 8.62}, {'connected_gene': 'LINC01146', 'score': 0.77}, {'connected_gene': 'ENSG00000258407', 'score': 0.77}, {'connected_gene': 'LOC101928791', 'score': 0.37}]
chr14 GH14I087869 87869194 87870662 0.94 [{'connected_gene': 'KCNK10', 'score': 2.22}, {'connected_gene': 'GPR65', 'score': 1.36}, {'connected_gene': 'ENSG00000258807', 'score': 0.77}, {'connected_gene': 'ENSG00000259077', 'score': 0.22}, {'connected_gene': 'GALC', 'score': 0.13}]
chr14 GH14I087901 87901193 87901611 0.22 [{'connected_gene': 'KCNK10', 'score': 1.27}, {'connected_gene': 'ENSG00000258807', 'score': 0.31}, {'connected_gene': 'FAM35CP', 'score': 0.23}, {'connected_gene': 'GALC', 'score': 0.16}]
chr14 GH14I088022 88022737 88027756 1.35 [{'connected_gene': 'LINC01146', 'score': 550.77}, {'connected_gene': 'GALC', 'score': 27.19}, {'connected_gene': 'GPR65', 'score': 5.9}, {'connected_gene': 'LOC101928791', 'score': 0.39}]
chr14 GH14I088029 88029556 88029668 0.69 [{'connected_gene': 'GALC', 'score': 6.93}, {'connected_gene': 'GPR65', 'score': 3.03}, {'connected_gene': 'LINC01146', 'score': 0.44}, {'connected_gene': 'LOC101928791', 'score': 0.44}]
chr14 GH14I088001 88001779 88003800 1.22 [{'connected_gene': 'GALC', 'score': 32.38}, {'connected_gene': 'GPR65', 'score': 30.21}, {'connected_gene': 'RNU6-835P', 'score': 0.44}]
chr14 GH14I088033 88033472 88034780 0.2 [{'connected_gene': 'GALC', 'score': 7.03}, {'connected_gene': 'GPR65', 'score': 5.76}, {'connected_gene': 'LOC101928791', 'score': 0.77}, {'connected_gene': 'LINC01146', 'score': 0.44}]
chr14 GH14I088043 88043507 88046777 1.6 [{'connected_gene': 'GALC', 'score': 26.6}, {'connected_gene': 'GPR65', 'score': 6.81}, {'connected_gene': 'LOC101928791', 'score': 0.44}, {'connected_gene': 'LINC01146', 'score': 0.34}, {'connected_gene': 'GC14P088067', 'score': 0.34}]
chr14 GH14I087989 87989324 87997376 2.54 [{'connected_gene': 'GALC', 'score': 583.69}, {'connected_gene': 'GPR65', 'score': 33.96}, {'connected_gene': 'FAM35CP', 'score': 11.31}, {'connected_gene': 'ZC3H14', 'score': 11.23}, {'connected_gene': 'RNU6-835P', 'score': 0.77}]
chr14 GH14I087945 87945097 87945226 0.49 [{'connected_gene': 'GALC', 'score': 20.26}, {'connected_gene': 'GPR65', 'score': 4.71}, {'connected_gene': 'FAM35CP', 'score': 0.44}, {'connected_gene': 'ENSG00000258807', 'score': 0.19}]
chr14 GH14I087962 87962298 87962634 0.22 [{'connected_gene': 'GALC', 'score': 11.43}, {'connected_gene': 'GPR65', 'score': 1.48}, {'connected_gene': 'FAM35CP', 'score': 0.44}]
chr14 GH14I087978 87978823 87978984 0.23 [{'connected_gene': 'GALC', 'score': 32.19}, {'connected_gene': 'GPR65', 'score': 6.11}, {'connected_gene': 'FAM35CP', 'score': 0.31}]
chr14 GH14I087958 87958582 87961908 0.31 [{'connected_gene': 'GALC', 'score': 40.76}, {'connected_gene': 'GPR65', 'score': 4.82}, {'connected_gene': 'FAM35CP', 'score': 0.44}]
chr14 GH14I088011 88011253 88013248 0.31 [{'connected_gene': 'GALC', 'score': 27.28}, {'connected_gene': 'ENSG00000258407', 'score': 0.77}, {'connected_gene': 'GPR65', 'score': 0.44}]
chr14 GH14I088048 88048512 88048601 0.42 [{'connected_gene': 'GALC', 'score': 15.63}, {'connected_gene': 'LOC101928791', 'score': 0.39}, {'connected_gene': 'GC14P088067', 'score': 0.37}, {'connected_gene': 'LINC01146', 'score': 0.34}]
chr14 GH14I088040 88040759 88041186 0.43 [{'connected_gene': 'GALC', 'score': 1.4}, {'connected_gene': 'LOC101928791', 'score': 0.77}, {'connected_gene': 'LINC01146', 'score': 0.37}, {'connected_gene': 'GC14P088067', 'score': 0.31}]
chr14 GH14I088049 88049334 88049589 0.47 [{'connected_gene': 'GALC', 'score': 15.63}, {'connected_gene': 'LOC101928791', 'score': 0.39}, {'connected_gene': 'GC14P088067', 'score': 0.37}, {'connected_gene': 'LINC01146', 'score': 0.34}]
chr14 GH14I088075 88075001 88076368 0.52 [{'connected_gene': 'GALC', 'score': 17.56}, {'connected_gene': 'GC14P088067', 'score': 0.44}, {'connected_gene': 'PIRC60', 'score': 0.26}, {'connected_gene': 'LINC01146', 'score': 0.23}]
chr14 GH14I087949 87949641 87953757 0.51 [{'connected_gene': 'FAM35CP', 'score': 550.77}, {'connected_gene': 'GALC', 'score': 40.73}, {'connected_gene': 'ENSG00000258807', 'score': 0.18}]
chr14 GH14I088063 88063879 88067116 0.78 [{'connected_gene': 'GC14P088067', 'score': 550.77}, {'connected_gene': 'GALC', 'score': 26.56}, {'connected_gene': 'GPR65', 'score': 7.16}, {'connected_gene': 'KCNK10', 'score': 1.24}, {'connected_gene': 'LOC101928791', 'score': 0.31}, {'connected_gene': 'LINC01146', 'score': 0.26}]
chr14 GH14I088013 88013501 88014400 1.12 [{'connected_gene': 'ENSG00000258407', 'score': 550.77}, {'connected_gene': 'GALC', 'score': 27.26}, {'connected_gene': 'GPR65', 'score': 0.44}]
chr14 GH14I088016 88016198 88018860 0.38 [{'connected_gene': 'ENSG00000258407', 'score': 550.77}, {'connected_gene': 'GALC', 'score': 16.98}, {'connected_gene': 'SPATA7', 'score': 10.58}, {'connected_gene': 'GPR65', 'score': 6.61}, {'connected_gene': 'LINC01146', 'score': 0.44}, {'connected_gene': 'LOC101928791', 'score': 0.37}]
chr14 GH14I088128 88128858 88129141 0.2 [{'connected_gene': 'PIR31581', 'score': 550.77}, {'connected_gene': 'PIR52890', 'score': 550.77}, {'connected_gene': 'GC14M091963', 'score': 550.77}, {'connected_gene': 'GALC', 'score': 6.22}, {'connected_gene': 'PIRC60', 'score': 0.44}]
chr14 GH14I088129 88129437 88129586 0.2 [{'connected_gene': 'PIR31581', 'score': 550.77}, {'connected_gene': 'PIR52890', 'score': 550.77}, {'connected_gene': 'GC14M091963', 'score': 550.77}, {'connected_gene': 'GALC', 'score': 4.52}, {'connected_gene': 'PIRC60', 'score': 0.44}]
chr14 GH14I087896 87896604 87896666 0.52 [{'connected_gene': 'ENSG00000258807', 'score': 0.34}, {'connected_gene': 'FAM35CP', 'score': 0.22}, {'connected_gene': 'GALC', 'score': 0.15}]

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