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
ENST00000526785 [[33762484, 33763630], [33768675, 33768866], [33770322, 33770438], [33772084, 33772207], [33773068, 33773153], [33776000, 33776046], [33777316, 33777521], [33780032, 33780147], [33790396, 33790560], [33792286, 33795893]] [[33763453, 33763630], [33768675, 33768866], [33770322, 33770438], [33772084, 33772207], [33773068, 33773153], [33776000, 33776046], [33777316, 33777521], [33780032, 33780147], [33790396, 33790415]]
ENST00000265651 [[33762491, 33763630], [33768675, 33768866], [33770322, 33770438], [33772084, 33772207], [33773068, 33773153], [33776000, 33776046], [33777316, 33777521], [33780032, 33780147], [33790396, 33790560], [33792286, 33792376], [33795939, 33796062]] [[33763453, 33763630], [33768675, 33768866], [33770322, 33770438], [33772084, 33772207], [33773068, 33773153], [33776000, 33776046], [33777316, 33777521], [33780032, 33780147], [33790396, 33790560], [33792286, 33792376], [33795939, 33796043]]
ENST00000530013 [[33762501, 33763630], [33768675, 33768866], [33770322, 33770438], [33772084, 33772207], [33773068, 33773153], [33774656, 33776046], [33777316, 33777521], [33780032, 33780147], [33790396, 33790560], [33792286, 33792376], [33795939, 33796071]] None
ENST00000530401 [[33762510, 33768866], [33770322, 33770438], [33772084, 33772207], [33773068, 33773153], [33776000, 33776046], [33777316, 33777521], [33780032, 33780147], [33790396, 33790560], [33792286, 33792361], [33795939, 33796064]] [[33768666, 33768866], [33770322, 33770438], [33772084, 33772207], [33773068, 33773153], [33776000, 33776046], [33777316, 33777521], [33780032, 33780147], [33790396, 33790560], [33792286, 33792361], [33795939, 33796043]]
ENST00000531080 [[33762987, 33763630], [33768675, 33768866], [33770322, 33770438], [33772084, 33772207], [33773068, 33773153], [33774656, 33774946]] [[33763453, 33763630], [33768675, 33768866], [33770322, 33770431]]
ENST00000532057 [[33763284, 33763630], [33768675, 33768866], [33770322, 33770438], [33772084, 33772207], [33773068, 33773153], [33774888, 33774945]] [[33763453, 33763630], [33768675, 33768866], [33770322, 33770431]]
ENST00000534136 [[33766230, 33768201], [33768675, 33768866], [33770322, 33770438], [33772084, 33772207], [33773068, 33773153], [33776000, 33776046], [33777316, 33777521], [33780032, 33780147], [33790396, 33790560], [33792286, 33792376], [33795939, 33796050]] [[33768147, 33768201], [33768675, 33768866], [33770322, 33770438], [33772084, 33772207], [33773068, 33773153], [33776000, 33776046], [33777316, 33777521], [33780032, 33780147], [33790396, 33790560], [33792286, 33792376], [33795939, 33796043]]
ENST00000527772 [[33767482, 33767605], [33768675, 33768866], [33770322, 33770358]] None
ENST00000448981 [[33768288, 33768866], [33770322, 33770438], [33772084, 33772207], [33773068, 33773153], [33776000, 33776046], [33777316, 33777521], [33780032, 33780147], [33790396, 33790560], [33792286, 33792376], [33795939, 33796089]] [[33768666, 33768866], [33770322, 33770438], [33772084, 33772207], [33773068, 33773153], [33776000, 33776046], [33777316, 33777521], [33780032, 33780147], [33790396, 33790560], [33792286, 33792376], [33795939, 33796043]]
ENST00000532927 [[33768787, 33768866], [33770322, 33770438], [33772084, 33772207], [33773068, 33773153], [33776000, 33776046], [33780032, 33780147], [33790396, 33790560], [33792286, 33792376], [33795939, 33796066]] [[33776000, 33776046], [33780032, 33780147], [33790396, 33790560], [33792286, 33792376], [33795939, 33796043]]
ENST00000529137 [[33777498, 33777521], [33780032, 33780147], [33784751, 33784832], [33790396, 33790560], [33792286, 33792376], [33795939, 33796050]] [[33784800, 33784832], [33790396, 33790560], [33792286, 33792376], [33795939, 33796043]]
ENST00000533103 [[33780048, 33780147], [33784751, 33784832], [33790396, 33790560], [33792286, 33792376], [33795724, 33795860]] None
ENST00000526952 [[33784751, 33784832], [33789153, 33789181], [33790396, 33790560], [33792286, 33792376], [33793378, 33793549]] None
NM_012175 [[33762489, 33763630], [33768675, 33768866], [33770322, 33770438], [33772084, 33772207], [33773068, 33773153], [33776000, 33776046], [33777316, 33777521], [33780032, 33780147], [33790396, 33790560], [33792286, 33792376], [33795939, 33796071]] [[33763453, 33763630], [33768675, 33768866], [33770322, 33770438], [33772084, 33772207], [33773068, 33773153], [33776000, 33776046], [33777316, 33777521], [33780032, 33780147], [33790396, 33790560], [33792286, 33792376], [33795939, 33796043]]
NM_033406 [[33768288, 33768866], [33770322, 33770438], [33772084, 33772207], [33773068, 33773153], [33776000, 33776046], [33777316, 33777521], [33780032, 33780147], [33790396, 33790560], [33792286, 33792376], [33795939, 33796071]] [[33768666, 33768866], [33770322, 33770438], [33772084, 33772207], [33773068, 33773153], [33776000, 33776046], [33777316, 33777521], [33780032, 33780147], [33790396, 33790560], [33792286, 33792376], [33795939, 33796043]]
Promoter
Chrom Start End Description
chr11 33774944 33774947 CAGE_peak_2_at_FBXO3_5end
chr11 33796039 33796077 CAGE_peak_1_at_FBXO3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I033687 33687347 33698676 1.72 [{'connected_gene': 'CD59', 'score': 25.29}, {'connected_gene': 'KIAA1549L', 'score': 16.22}, {'connected_gene': 'NAT10', 'score': 11.65}, {'connected_gene': 'LOC105376617', 'score': 7.13}, {'connected_gene': 'FBXO3', 'score': 4.89}, {'connected_gene': 'FBXO3-AS1', 'score': 4.5}, {'connected_gene': 'C11orf91', 'score': 0.44}, {'connected_gene': 'PIR36412', 'score': 0.37}]
chr11 GH11I033756 33756540 33756723 0.23 [{'connected_gene': 'CD59', 'score': 11.52}, {'connected_gene': 'KIAA1549L', 'score': 9.83}, {'connected_gene': 'FBXO3', 'score': 2.0}, {'connected_gene': 'GC11M033731', 'score': 0.12}]
chr11 GH11I033731 33731287 33738945 2.24 [{'connected_gene': 'CD59', 'score': 573.17}, {'connected_gene': 'LOC105376617', 'score': 16.56}, {'connected_gene': 'FBXO3-AS1', 'score': 11.42}, {'connected_gene': 'KIAA1549L', 'score': 10.96}, {'connected_gene': 'NAT10', 'score': 10.88}, {'connected_gene': 'FBXO3', 'score': 10.75}, {'connected_gene': 'ENSG00000255272', 'score': 10.73}, {'connected_gene': 'ENSG00000254619', 'score': 6.36}, {'connected_gene': 'GC11P033706', 'score': 0.31}, {'connected_gene': 'GC11M033731', 'score': 0.1}]
chr11 GH11I033718 33718609 33725937 1.87 [{'connected_gene': 'CD59', 'score': 568.18}, {'connected_gene': 'FBXO3-AS1', 'score': 19.37}, {'connected_gene': 'LOC105376617', 'score': 17.56}, {'connected_gene': 'ENSG00000255272', 'score': 11.12}, {'connected_gene': 'FBXO3', 'score': 11.12}, {'connected_gene': 'RPS24P15', 'score': 9.75}, {'connected_gene': 'KIAA1549L', 'score': 9.66}, {'connected_gene': 'C11orf91', 'score': 5.6}, {'connected_gene': 'TCP11L1', 'score': 4.34}, {'connected_gene': 'GC11P033706', 'score': 0.37}]
chr11 GH11I033714 33714732 33717790 0.85 [{'connected_gene': 'CD59', 'score': 16.39}, {'connected_gene': 'C11orf91', 'score': 6.8}, {'connected_gene': 'FBXO3', 'score': 4.87}, {'connected_gene': 'GC11P033706', 'score': 0.39}]
chr11 GH11I033475 33475857 33476724 0.72 [{'connected_gene': 'QSER1', 'score': 36.63}, {'connected_gene': 'HNRNPA3P9', 'score': 22.81}, {'connected_gene': 'NAT10', 'score': 14.02}, {'connected_gene': 'FBXO3', 'score': 12.57}, {'connected_gene': 'CSTF3', 'score': 11.86}, {'connected_gene': 'CAPRIN1', 'score': 10.77}, {'connected_gene': 'KIAA1549L', 'score': 10.23}, {'connected_gene': 'ENSG00000255207', 'score': 0.31}, {'connected_gene': 'GC11P033533', 'score': 0.22}]
chr11 GH11I033048 33048800 33050453 0.63 [{'connected_gene': 'TCP11L1', 'score': 27.23}, {'connected_gene': 'FBXO3', 'score': 11.02}, {'connected_gene': 'CSTF3', 'score': 9.98}, {'connected_gene': 'LINC00294', 'score': 0.31}, {'connected_gene': 'GC11M032953', 'score': 0.1}]
chr11 GH11I033362 33362201 33362800 0.82 [{'connected_gene': 'TCP11L1', 'score': 12.3}, {'connected_gene': 'LOC105376617', 'score': 10.25}, {'connected_gene': 'CD59', 'score': 10.06}, {'connected_gene': 'FBXO3', 'score': 9.85}, {'connected_gene': 'ENSG00000255272', 'score': 9.85}, {'connected_gene': 'KIAA1549L', 'score': 0.39}, {'connected_gene': 'HIPK3', 'score': 0.14}, {'connected_gene': 'GC11P033247', 'score': 0.14}]
chr11 GH11I034160 34160997 34164392 0.87 [{'connected_gene': 'FBXO3', 'score': 14.08}, {'connected_gene': 'NAT10', 'score': 11.9}, {'connected_gene': 'ABTB2', 'score': 11.68}, {'connected_gene': 'CAPRIN1', 'score': 8.53}, {'connected_gene': 'GC11M034170', 'score': 0.44}, {'connected_gene': 'GC11P034155', 'score': 0.44}]
chr11 GH11I033829 33829001 33829872 0.83 [{'connected_gene': 'FBXO3', 'score': 15.34}, {'connected_gene': 'ENSG00000255272', 'score': 10.9}, {'connected_gene': 'ABTB2', 'score': 10.0}, {'connected_gene': 'KIAA1549L', 'score': 9.1}, {'connected_gene': 'LOC105376620', 'score': 0.44}, {'connected_gene': 'GC11M033853', 'score': 0.34}, {'connected_gene': 'GC11M033731', 'score': 0.21}]
chr11 GH11I034222 34222773 34223723 1.12 [{'connected_gene': 'FBXO3', 'score': 10.02}, {'connected_gene': 'ABTB2', 'score': 4.95}, {'connected_gene': 'PIR39921', 'score': 0.34}, {'connected_gene': 'GC11M034177', 'score': 0.18}]
chr11 GH11I034307 34307955 34310915 1.1 [{'connected_gene': 'ABTB2', 'score': 11.42}, {'connected_gene': 'FBXO3', 'score': 11.02}, {'connected_gene': 'GC11M034177', 'score': 0.77}, {'connected_gene': 'GC11M034335', 'score': 0.31}]
chr11 GH11I033708 33708963 33710441 0.54 [{'connected_gene': 'LOC105376617', 'score': 5.65}, {'connected_gene': 'FBXO3', 'score': 5.45}, {'connected_gene': 'GC11P033706', 'score': 0.77}, {'connected_gene': 'CD59', 'score': 0.31}]
chr11 GH11I033773 33773400 33775260 1.92 [{'connected_gene': 'FBXO3-AS1', 'score': 561.38}, {'connected_gene': 'FBXO3', 'score': 550.77}, {'connected_gene': 'ENSG00000255272', 'score': 550.77}, {'connected_gene': 'CD59', 'score': 21.5}, {'connected_gene': 'LOC105376617', 'score': 6.1}, {'connected_gene': 'GC11M033731', 'score': 0.13}]
chr11 GH11I033771 33771996 33772934 0.6 [{'connected_gene': 'FBXO3-AS1', 'score': 9.78}, {'connected_gene': 'FBXO3', 'score': 0.77}, {'connected_gene': 'CD59', 'score': 0.28}, {'connected_gene': 'GC11M033731', 'score': 0.13}]
chr11 GH11I033753 33753435 33753584 0.77 [{'connected_gene': 'FBXO3-AS1', 'score': 11.84}, {'connected_gene': 'FBXO3', 'score': 11.84}, {'connected_gene': 'ENSG00000255272', 'score': 11.84}, {'connected_gene': 'LOC105376617', 'score': 10.71}, {'connected_gene': 'KIAA1549L', 'score': 9.48}, {'connected_gene': 'CD59', 'score': 0.37}, {'connected_gene': 'GC11M033731', 'score': 0.12}]
chr11 GH11I033743 33742595 33742744 0.59 [{'connected_gene': 'FBXO3-AS1', 'score': 11.94}, {'connected_gene': 'FBXO3', 'score': 11.94}, {'connected_gene': 'ENSG00000255272', 'score': 11.94}, {'connected_gene': 'LOC105376617', 'score': 10.87}, {'connected_gene': 'KIAA1549L', 'score': 10.44}, {'connected_gene': 'CD59', 'score': 0.44}, {'connected_gene': 'GC11M033731', 'score': 0.11}]
chr11 GH11I033742 33742835 33745604 0.56 [{'connected_gene': 'FBXO3-AS1', 'score': 18.8}, {'connected_gene': 'LOC105376617', 'score': 16.59}, {'connected_gene': 'CD59', 'score': 12.83}, {'connected_gene': 'FBXO3', 'score': 11.94}, {'connected_gene': 'ENSG00000255272', 'score': 11.94}, {'connected_gene': 'KIAA1549L', 'score': 10.44}, {'connected_gene': 'ENSG00000254619', 'score': 5.7}, {'connected_gene': 'GC11M033731', 'score': 0.11}]
chr11 GH11I033699 33699139 33708440 2.47 [{'connected_gene': 'C11orf91', 'score': 550.77}, {'connected_gene': 'GC11M033703', 'score': 550.77}, {'connected_gene': 'CD59', 'score': 29.69}, {'connected_gene': 'CAPRIN1', 'score': 11.27}, {'connected_gene': 'RPS24P15', 'score': 9.75}, {'connected_gene': 'LOC105376617', 'score': 7.39}, {'connected_gene': 'FBXO3-AS1', 'score': 6.11}, {'connected_gene': 'FBXO3', 'score': 5.63}, {'connected_gene': 'GC11P033706', 'score': 0.77}]
chr11 GH11I033835 33835235 33835707 0.85 [{'connected_gene': 'ENSG00000255272', 'score': 11.36}, {'connected_gene': 'FBXO3', 'score': 11.35}, {'connected_gene': 'CAPRIN1', 'score': 10.79}, {'connected_gene': 'LOC105376620', 'score': 0.39}, {'connected_gene': 'GC11M033853', 'score': 0.37}, {'connected_gene': 'GC11M033731', 'score': 0.23}]
chr11 GH11I033802 33802001 33803100 1.12 [{'connected_gene': 'PIR47137', 'score': 550.77}, {'connected_gene': 'FBXO3-AS1', 'score': 22.38}, {'connected_gene': 'ENSG00000255272', 'score': 11.74}, {'connected_gene': 'FBXO3', 'score': 11.74}, {'connected_gene': 'CD59', 'score': 11.71}, {'connected_gene': 'CSTF3', 'score': 11.62}, {'connected_gene': 'LOC646120', 'score': 0.39}, {'connected_gene': 'GC11M033731', 'score': 0.17}]
chr11 GH11I033808 33808355 33808504 0.69 [{'connected_gene': 'ENSG00000254619', 'score': 550.77}, {'connected_gene': 'FBXO3-AS1', 'score': 20.3}, {'connected_gene': 'ENSG00000255272', 'score': 11.32}, {'connected_gene': 'FBXO3', 'score': 11.32}, {'connected_gene': 'ABTB2', 'score': 9.5}, {'connected_gene': 'LOC105376617', 'score': 9.26}, {'connected_gene': 'LOC105376619', 'score': 0.77}, {'connected_gene': 'GC11M033731', 'score': 0.18}]