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
ENST00000502597 [[71817423, 71818651], [71821133, 71821271], [71821589, 71821649], [71823695, 71823750]] [[71818396, 71818651], [71821133, 71821196]]
ENST00000543050 [[71818204, 71818651], [71821133, 71821271], [71821589, 71821649], [71822202, 71822332], [71822457, 71822489]] [[71818396, 71818651], [71821133, 71821271], [71821589, 71821649], [71822202, 71822322]]
ENST00000538117 [[71819863, 71819921], [71820274, 71820387], [71821133, 71821271], [71821589, 71821649], [71822202, 71822327], [71822457, 71822543]] [[71820372, 71820387], [71821133, 71821271], [71821589, 71821649], [71822202, 71822322]]
ENST00000543587 [[71820628, 71820986], [71821133, 71821271], [71821589, 71821649], [71822202, 71822327], [71822457, 71822542], [71823695, 71823812]] [[71820926, 71820986], [71821133, 71821271], [71821589, 71821649], [71822202, 71822322]]
ENST00000543015 [[71820632, 71820974], [71821133, 71821291]] None
ENST00000545680 [[71820632, 71820986], [71821133, 71821271], [71821589, 71821649], [71822202, 71822332], [71822457, 71822542], [71823695, 71823800]] [[71820926, 71820986], [71821133, 71821271], [71821589, 71821649], [71822202, 71822322]]
ENST00000227618 [[71820632, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822332], [71822457, 71822542], [71823695, 71823826]] [[71820926, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822322]]
ENST00000542531 [[71820634, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822327], [71822457, 71822542], [71823261, 71823325]] [[71820926, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822322]]
ENST00000535234 [[71820634, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822332], [71822487, 71822542], [71823695, 71823820]] [[71820926, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822322]]
ENST00000545944 [[71820635, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822332], [71823695, 71823732]] [[71820926, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822322]]
ENST00000538393 [[71820635, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822327], [71822457, 71822542], [71823695, 71823815]] [[71820926, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822322]]
ENST00000535503 [[71820695, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822327], [71822457, 71822542], [71823779, 71823826]] [[71820926, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822322]]
ENST00000538919 [[71820847, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822332], [71822457, 71822542], [71822969, 71823278]] [[71820926, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822322]]
ENST00000537644 [[71821116, 71821307], [71821589, 71821649], [71822202, 71822327], [71822457, 71822542], [71822969, 71823114]] [[71821116, 71821307], [71821589, 71821649], [71822202, 71822322]]
ENST00000438939 [[71821209, 71821307], [71821589, 71821649], [71822202, 71822332], [71822487, 71822529]] [[71821209, 71821307], [71821589, 71821649], [71822202, 71822322]]
ENST00000545333 [[71821256, 71821271], [71821589, 71821649], [71822202, 71822332], [71822457, 71822542], [71823319, 71823497]] [[71821256, 71821271], [71821589, 71821649], [71822202, 71822322]]
ENST00000539395 [[71821635, 71821649], [71822202, 71822327], [71822457, 71822542], [71822969, 71823308]] [[71821635, 71821649], [71822202, 71822322]]
NM_001330321 [[71817421, 71818651], [71821133, 71821271], [71821589, 71821649], [71822202, 71822332], [71822457, 71822542], [71823695, 71823826]] [[71818396, 71818651], [71821133, 71821271], [71821589, 71821649], [71822202, 71822322]]
NM_001278494 [[71820632, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822332], [71822457, 71822542], [71822969, 71823278]] [[71820926, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822322]]
NM_001278492 [[71820632, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822327], [71822457, 71822542], [71823261, 71823318]] [[71820926, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822322]]
NM_001278493 [[71820632, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822332], [71822457, 71822542], [71823284, 71823318]] [[71820926, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822322]]
NM_001278491 [[71820632, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822332], [71822457, 71822542], [71823319, 71823344]] [[71820926, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822322]]
NM_001278485 [[71820632, 71820986], [71821133, 71821271], [71821589, 71821649], [71822202, 71822332], [71822457, 71822542], [71823695, 71823822]] [[71820926, 71820986], [71821133, 71821271], [71821589, 71821649], [71822202, 71822322]]
NM_014042 [[71820632, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822332], [71822457, 71822542], [71823695, 71823822]] [[71820926, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822322]]
NM_001278486 [[71820632, 71820986], [71821133, 71821271], [71821589, 71821649], [71822202, 71822327], [71822457, 71822542], [71823695, 71823822]] [[71820926, 71820986], [71821133, 71821271], [71821589, 71821649], [71822202, 71822322]]
NM_001278487 [[71820632, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822327], [71822457, 71822542], [71823695, 71823822]] [[71820926, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822322]]
NM_001278489 [[71820632, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822332], [71822487, 71822542], [71823695, 71823822]] [[71820926, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822322]]
NM_001278490 [[71820632, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822332], [71823695, 71823822]] [[71820926, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822322]]
NM_001278488 [[71820632, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822327], [71822457, 71822542], [71823779, 71823822]] [[71820926, 71820974], [71821133, 71821271], [71821589, 71821649], [71822202, 71822322]]
Promoter
Chrom Start End Description
chr11 71823266 71823296 CAGE_peak_3_at_C11orf51_5end
chr11 71823715 71823792 CAGE_peak_1_at_C11orf51_5end
chr11 71823796 71823826 CAGE_peak_2_at_C11orf51_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I071962 71962131 71963756 1.19 [{'connected_gene': 'RNF121', 'score': 11.27}, {'connected_gene': 'LOC100133315', 'score': 11.27}, {'connected_gene': 'LOC100128494', 'score': 10.99}, {'connected_gene': 'NUMA1', 'score': 10.88}, {'connected_gene': 'LRTOMT', 'score': 10.15}, {'connected_gene': 'ANAPC15', 'score': 10.13}, {'connected_gene': 'LAMTOR1', 'score': 10.13}, {'connected_gene': 'PHOX2A', 'score': 9.19}, {'connected_gene': 'FAM86C1', 'score': 4.77}, {'connected_gene': 'PIR62264', 'score': 0.34}, {'connected_gene': 'IL18BP', 'score': 0.28}]
chr11 GH11I072030 72030101 72032814 0.2 [{'connected_gene': 'FAM86C1', 'score': 14.83}, {'connected_gene': 'LRTOMT', 'score': 11.57}, {'connected_gene': 'NUMA1', 'score': 11.57}, {'connected_gene': 'LAMTOR1', 'score': 10.63}, {'connected_gene': 'ANAPC15', 'score': 10.61}, {'connected_gene': 'RNF121', 'score': 10.03}, {'connected_gene': 'LOC100133315', 'score': 10.02}, {'connected_gene': 'OR7E128P', 'score': 6.01}, {'connected_gene': 'GC11M072049', 'score': 0.37}, {'connected_gene': 'PIR48139', 'score': 0.37}]
chr11 GH11I072026 72026671 72028740 0.2 [{'connected_gene': 'FAM86C1', 'score': 27.83}, {'connected_gene': 'LRTOMT', 'score': 11.3}, {'connected_gene': 'NUMA1', 'score': 11.3}, {'connected_gene': 'ANAPC15', 'score': 10.94}, {'connected_gene': 'IL18BP', 'score': 10.91}, {'connected_gene': 'RNF121', 'score': 10.75}, {'connected_gene': 'LAMTOR1', 'score': 10.58}, {'connected_gene': 'PHOX2A', 'score': 9.44}, {'connected_gene': 'OR7E128P', 'score': 4.56}, {'connected_gene': 'PIR48139', 'score': 0.39}, {'connected_gene': 'GC11M072049', 'score': 0.34}]
chr11 GH11I072183 72183400 72183801 1.02 [{'connected_gene': 'PHOX2A', 'score': 10.78}, {'connected_gene': 'ANAPC15', 'score': 10.25}, {'connected_gene': 'LAMTOR1', 'score': 10.23}, {'connected_gene': 'LRTOMT', 'score': 10.21}, {'connected_gene': 'NUMA1', 'score': 9.97}, {'connected_gene': 'LOC100128494', 'score': 9.69}, {'connected_gene': 'ENSG00000256403', 'score': 9.42}, {'connected_gene': 'FOLR3', 'score': 6.39}, {'connected_gene': 'FOLR1', 'score': 0.44}, {'connected_gene': 'FOLR3P1', 'score': 0.39}, {'connected_gene': 'ENSG00000204971', 'score': 0.31}]
chr11 GH11I072110 72110733 72115316 2.29 [{'connected_gene': 'ANAPC15', 'score': 550.77}, {'connected_gene': 'FOLR3', 'score': 550.77}, {'connected_gene': 'NUMA1', 'score': 22.39}, {'connected_gene': 'IL18BP', 'score': 14.3}, {'connected_gene': 'NADSYN1', 'score': 13.69}, {'connected_gene': 'LOC100128494', 'score': 11.78}, {'connected_gene': 'FAM86C1', 'score': 5.86}, {'connected_gene': 'LRTOMT', 'score': 4.72}, {'connected_gene': 'OR7E128P', 'score': 4.39}]
chr11 GH11I072143 72143287 72146129 1.2 [{'connected_gene': 'FOLR3', 'score': 52.38}, {'connected_gene': 'NUMA1', 'score': 27.85}, {'connected_gene': 'LOC100128494', 'score': 26.38}, {'connected_gene': 'IL18BP', 'score': 21.35}, {'connected_gene': 'ZNF705E', 'score': 11.81}, {'connected_gene': 'ANAPC15', 'score': 11.1}, {'connected_gene': 'LAMTOR1', 'score': 10.71}, {'connected_gene': 'LRTOMT', 'score': 10.66}, {'connected_gene': 'PHOX2A', 'score': 10.38}, {'connected_gene': 'RNF121', 'score': 10.21}, {'connected_gene': 'NADSYN1', 'score': 9.9}, {'connected_gene': 'FAM86C1', 'score': 7.82}, {'connected_gene': 'DHCR7', 'score': 4.65}, {'connected_gene': 'GC11P072156', 'score': 0.44}, {'connected_gene': 'RPEP6', 'score': 0.39}]
chr11 GH11I072180 72180626 72182000 0.92 [{'connected_gene': 'FOLR3', 'score': 10.86}, {'connected_gene': 'PHOX2A', 'score': 10.78}, {'connected_gene': 'ANAPC15', 'score': 10.26}, {'connected_gene': 'LAMTOR1', 'score': 10.24}, {'connected_gene': 'LRTOMT', 'score': 10.21}, {'connected_gene': 'NUMA1', 'score': 9.97}, {'connected_gene': 'LOC100128494', 'score': 9.69}, {'connected_gene': 'ENSG00000256403', 'score': 9.42}, {'connected_gene': 'FOLR1', 'score': 0.44}, {'connected_gene': 'FOLR3P1', 'score': 0.44}, {'connected_gene': 'ENSG00000204971', 'score': 0.31}]
chr11 GH11I072037 72037485 72044213 1.7 [{'connected_gene': 'LRTOMT', 'score': 11.83}, {'connected_gene': 'NUMA1', 'score': 11.83}, {'connected_gene': 'FAM86C1', 'score': 11.42}, {'connected_gene': 'LOC100128494', 'score': 11.28}, {'connected_gene': 'LAMTOR1', 'score': 11.01}, {'connected_gene': 'ANAPC15', 'score': 10.99}, {'connected_gene': 'FOLR3', 'score': 10.93}, {'connected_gene': 'IL18BP', 'score': 10.52}, {'connected_gene': 'RNF121', 'score': 10.39}, {'connected_gene': 'PHOX2A', 'score': 9.95}, {'connected_gene': 'ENSG00000255672', 'score': 9.24}, {'connected_gene': 'ENSG00000256739', 'score': 9.24}, {'connected_gene': 'GC11M072049', 'score': 0.44}, {'connected_gene': 'PIR48139', 'score': 0.34}]
chr11 GH11I072023 72023442 72026434 1.04 [{'connected_gene': 'LRTOMT', 'score': 11.33}, {'connected_gene': 'NUMA1', 'score': 11.33}, {'connected_gene': 'IL18BP', 'score': 10.83}, {'connected_gene': 'ANAPC15', 'score': 10.79}, {'connected_gene': 'RNF121', 'score': 10.67}, {'connected_gene': 'LAMTOR1', 'score': 10.64}, {'connected_gene': 'PHOX2A', 'score': 9.97}, {'connected_gene': 'FAM86C1', 'score': 4.61}, {'connected_gene': 'PIR48139', 'score': 0.44}, {'connected_gene': 'GC11M072049', 'score': 0.34}]
chr11 GH11I072035 72035723 72037331 0.2 [{'connected_gene': 'LRTOMT', 'score': 11.59}, {'connected_gene': 'NUMA1', 'score': 11.59}, {'connected_gene': 'LOC100128494', 'score': 11.25}, {'connected_gene': 'ANAPC15', 'score': 10.89}, {'connected_gene': 'FOLR3', 'score': 10.89}, {'connected_gene': 'LAMTOR1', 'score': 10.64}, {'connected_gene': 'IL18BP', 'score': 10.47}, {'connected_gene': 'RNF121', 'score': 10.34}, {'connected_gene': 'LOC100133315', 'score': 10.02}, {'connected_gene': 'PHOX2A', 'score': 9.95}, {'connected_gene': 'FAM86C1', 'score': 4.63}, {'connected_gene': 'GC11M072049', 'score': 0.39}, {'connected_gene': 'PIR48139', 'score': 0.34}]
chr11 GH11I071995 71995978 72001042 1.79 [{'connected_gene': 'IL18BP', 'score': 550.77}, {'connected_gene': 'LRTOMT', 'score': 14.69}, {'connected_gene': 'RNF121', 'score': 10.43}, {'connected_gene': 'LOC100133315', 'score': 10.43}, {'connected_gene': 'LAMTOR1', 'score': 10.18}, {'connected_gene': 'ANAPC15', 'score': 10.16}, {'connected_gene': 'FAM86C1', 'score': 6.18}, {'connected_gene': 'GC11P072002', 'score': 0.77}]
chr11 GH11I072132 72132401 72133400 0.31 [{'connected_gene': 'RPEP6', 'score': 550.77}, {'connected_gene': 'LRTOMT', 'score': 15.34}, {'connected_gene': 'ANAPC15', 'score': 11.42}, {'connected_gene': 'LAMTOR1', 'score': 11.4}, {'connected_gene': 'ENSG00000256403', 'score': 9.73}, {'connected_gene': 'FOLR3', 'score': 8.16}, {'connected_gene': 'FAM86C1', 'score': 4.28}, {'connected_gene': 'GC11P072156', 'score': 0.34}]
chr11 GH11I071977 71977335 71978585 0.62 [{'connected_gene': 'LOC100128494', 'score': 11.83}, {'connected_gene': 'NUMA1', 'score': 11.7}, {'connected_gene': 'LRTOMT', 'score': 10.6}, {'connected_gene': 'LAMTOR1', 'score': 10.45}, {'connected_gene': 'ANAPC15', 'score': 10.44}, {'connected_gene': 'PHOX2A', 'score': 9.74}, {'connected_gene': 'FAM86C1', 'score': 4.69}, {'connected_gene': 'IL18BP', 'score': 0.37}, {'connected_gene': 'PIR62264', 'score': 0.28}, {'connected_gene': 'RNF121', 'score': 0.25}]
chr11 GH11I072084 72084571 72087333 0.49 [{'connected_gene': 'LOC100128494', 'score': 14.85}, {'connected_gene': 'ANAPC15', 'score': 11.31}, {'connected_gene': 'IL18BP', 'score': 10.31}, {'connected_gene': 'RNF121', 'score': 10.25}, {'connected_gene': 'PHOX2A', 'score': 9.48}, {'connected_gene': 'FAM86C1', 'score': 5.72}, {'connected_gene': 'LRTOMT', 'score': 0.44}, {'connected_gene': 'NUMA1', 'score': 0.44}, {'connected_gene': 'LAMTOR1', 'score': 0.37}]
chr11 GH11I072139 72139882 72142800 0.96 [{'connected_gene': 'LOC100128494', 'score': 28.72}, {'connected_gene': 'FOLR3', 'score': 27.49}, {'connected_gene': 'NUMA1', 'score': 25.22}, {'connected_gene': 'IL18BP', 'score': 23.88}, {'connected_gene': 'LAMTOR1', 'score': 17.03}, {'connected_gene': 'ZNF705E', 'score': 13.31}, {'connected_gene': 'ANAPC15', 'score': 11.37}, {'connected_gene': 'LRTOMT', 'score': 11.27}, {'connected_gene': 'RNF121', 'score': 10.46}, {'connected_gene': 'PHOX2A', 'score': 10.38}, {'connected_gene': 'NADSYN1', 'score': 10.19}, {'connected_gene': 'FAM86C1', 'score': 8.56}, {'connected_gene': 'FOLR1P1', 'score': 5.54}, {'connected_gene': 'DHCR7', 'score': 5.08}, {'connected_gene': 'S100A11P3', 'score': 4.65}, {'connected_gene': 'GC11P072156', 'score': 0.39}, {'connected_gene': 'RPEP6', 'score': 0.39}]
chr11 GH11I072004 72004069 72009265 0.56 [{'connected_gene': 'PIR56540', 'score': 550.77}, {'connected_gene': 'PIR48136', 'score': 550.77}, {'connected_gene': 'LRTOMT', 'score': 10.74}, {'connected_gene': 'RNF121', 'score': 10.22}, {'connected_gene': 'LOC100133315', 'score': 10.22}, {'connected_gene': 'LAMTOR1', 'score': 10.21}, {'connected_gene': 'ANAPC15', 'score': 10.21}, {'connected_gene': 'PHOX2A', 'score': 9.55}, {'connected_gene': 'FOLR3', 'score': 5.1}, {'connected_gene': 'FAM86C1', 'score': 4.85}, {'connected_gene': 'LOC100128494', 'score': 4.64}, {'connected_gene': 'PIR48081', 'score': 0.77}, {'connected_gene': 'IL18BP', 'score': 0.44}, {'connected_gene': 'NUMA1', 'score': 0.19}]
chr11 GH11I072001 72001536 72003549 0.85 [{'connected_gene': 'GC11P072002', 'score': 550.77}, {'connected_gene': 'LRTOMT', 'score': 10.73}, {'connected_gene': 'RNF121', 'score': 10.23}, {'connected_gene': 'LOC100133315', 'score': 10.23}, {'connected_gene': 'LAMTOR1', 'score': 9.89}, {'connected_gene': 'ANAPC15', 'score': 9.88}, {'connected_gene': 'LOC100128494', 'score': 4.71}, {'connected_gene': 'IL18BP', 'score': 0.77}, {'connected_gene': 'PIR48136', 'score': 0.77}, {'connected_gene': 'NUMA1', 'score': 0.18}]

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