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
ENST00000530267 [[77899857, 77900203], [77916887, 77917081], [77918575, 77918669], [77919902, 77920009], [77920493, 77921790], [77924691, 77925072]] [[77916986, 77917081], [77918575, 77918669], [77919902, 77920009], [77920493, 77921790], [77924691, 77924859]]
ENST00000530535 [[77899868, 77900203], [77920493, 77921790], [77924691, 77925184]] None
ENST00000528910 [[77899948, 77900203], [77908981, 77909114], [77910640, 77910770], [77911178, 77911280], [77911695, 77911854], [77916887, 77917081], [77918575, 77918669], [77919902, 77920009], [77920493, 77920528]] [[77909040, 77909114], [77910640, 77910770], [77911178, 77911280], [77911695, 77911854], [77916887, 77917081], [77918575, 77918669], [77919902, 77920009], [77920493, 77920528]]
ENST00000529308 [[77899952, 77900203], [77907281, 77907964], [77908981, 77909114], [77910640, 77910770], [77911178, 77911280], [77911695, 77911854], [77916887, 77917081], [77918575, 77918669], [77919902, 77920009], [77920493, 77921790], [77924691, 77925757]] [[77907291, 77907964], [77908981, 77909114], [77910640, 77910770], [77911178, 77911280], [77911695, 77911854], [77916887, 77917081], [77918575, 77918669], [77919902, 77920009], [77920493, 77921790], [77924691, 77924859]]
ENST00000441408 [[77907842, 77907964], [77908981, 77909114], [77911178, 77911280], [77911695, 77911854], [77916887, 77917085], [77918575, 77918669], [77919902, 77920009], [77920493, 77921790], [77924691, 77925465]] [[77916936, 77917085], [77918575, 77918669], [77919902, 77920009], [77920493, 77921790], [77924691, 77924859]]
ENST00000530546 [[77907842, 77907964], [77908981, 77909114], [77911178, 77911280], [77911695, 77911854], [77916887, 77917085], [77918575, 77918669], [77919902, 77920009], [77920493, 77921790], [77924691, 77925465]] [[77907842, 77907964], [77908981, 77909114], [77911178, 77911248]]
ENST00000526425 [[77910015, 77910770], [77911178, 77911280], [77911695, 77911854], [77916887, 77917081], [77918575, 77918669], [77919902, 77920009], [77920493, 77921790], [77924691, 77925753]] [[77910641, 77910770], [77911178, 77911280], [77911695, 77911854], [77916887, 77917081], [77918575, 77918669], [77919902, 77920009], [77920493, 77921790], [77924691, 77924859]]
ENST00000530521 [[77918282, 77918669], [77919902, 77920009], [77920493, 77920597]] None
NM_020798 [[77899857, 77900203], [77907281, 77907964], [77908981, 77909114], [77910640, 77910770], [77911178, 77911280], [77911695, 77911854], [77916887, 77917081], [77918575, 77918669], [77919902, 77920009], [77920493, 77921790], [77924691, 77925757]] [[77907291, 77907964], [77908981, 77909114], [77910640, 77910770], [77911178, 77911280], [77911695, 77911854], [77916887, 77917081], [77918575, 77918669], [77919902, 77920009], [77920493, 77921790], [77924691, 77924859]]
Promoter
Chrom Start End Description
chr11 77899842 77899854 CAGE_peak_3_at_USP35_5end
chr11 77899920 77899992 CAGE_peak_1_at_USP35_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I078200 78200732 78203907 1.59 [{'connected_gene': 'INTS4', 'score': 11.56}, {'connected_gene': 'NARS2', 'score': 11.38}, {'connected_gene': 'ENSG00000254649', 'score': 10.55}, {'connected_gene': 'GAB2', 'score': 10.02}, {'connected_gene': 'RSF1', 'score': 2.31}, {'connected_gene': 'PIR47261', 'score': 0.44}, {'connected_gene': 'USP35', 'score': 0.39}, {'connected_gene': 'KCTD21', 'score': 0.39}]
chr11 GH11I078214 78213776 78213921 0.4 [{'connected_gene': 'NARS2', 'score': 10.19}, {'connected_gene': 'PIR32516', 'score': 0.77}, {'connected_gene': 'PIR44859', 'score': 0.77}, {'connected_gene': 'USP35', 'score': 0.31}]
chr11 GH11I078156 78156175 78157126 0.94 [{'connected_gene': 'USP35', 'score': 11.54}, {'connected_gene': 'KCTD21', 'score': 11.54}, {'connected_gene': 'INTS4', 'score': 9.01}, {'connected_gene': 'GC11P078155', 'score': 0.77}, {'connected_gene': 'PIR47143', 'score': 0.77}, {'connected_gene': 'GC11M078165', 'score': 0.44}, {'connected_gene': 'KCTD21-AS1', 'score': 0.37}]
chr11 GH11I078160 78160163 78160371 0.2 [{'connected_gene': 'USP35', 'score': 11.56}, {'connected_gene': 'KCTD21', 'score': 11.56}, {'connected_gene': 'INTS4', 'score': 9.01}, {'connected_gene': 'GC11P078155', 'score': 0.44}, {'connected_gene': 'GC11M078165', 'score': 0.44}, {'connected_gene': 'PIR47143', 'score': 0.44}, {'connected_gene': 'KCTD21-AS1', 'score': 0.34}]
chr11 GH11I078185 78185155 78190596 2.8 [{'connected_gene': 'USP35', 'score': 561.1}, {'connected_gene': 'KCTD21', 'score': 550.77}, {'connected_gene': 'RPL21P95', 'score': 51.46}, {'connected_gene': 'INTS4', 'score': 49.28}, {'connected_gene': 'LOC101928865', 'score': 48.78}, {'connected_gene': 'ENSG00000255449', 'score': 39.62}, {'connected_gene': 'KCTD21-AS1', 'score': 25.72}, {'connected_gene': 'ALG8', 'score': 11.53}, {'connected_gene': 'RSF1', 'score': 2.2}, {'connected_gene': 'PIR40351', 'score': 0.37}]
chr11 GH11I078194 78194057 78194312 0.31 [{'connected_gene': 'USP35', 'score': 0.44}, {'connected_gene': 'KCTD21', 'score': 0.44}, {'connected_gene': 'PIR47261', 'score': 0.37}]
chr11 GH11I078192 78192027 78193728 1.04 [{'connected_gene': 'USP35', 'score': 11.92}, {'connected_gene': 'KCTD21-AS1', 'score': 5.98}, {'connected_gene': 'ALG8', 'score': 5.63}, {'connected_gene': 'KCTD21', 'score': 0.77}, {'connected_gene': 'PIR47261', 'score': 0.37}]
chr11 GH11I078173 78173084 78173707 0.2 [{'connected_gene': 'KCTD21', 'score': 6.91}, {'connected_gene': 'PIR40351', 'score': 0.77}, {'connected_gene': 'USP35', 'score': 0.37}, {'connected_gene': 'KCTD21-AS1', 'score': 0.29}]
chr11 GH11I078138 78138477 78141055 2.07 [{'connected_gene': 'KCTD21-AS1', 'score': 625.65}, {'connected_gene': 'ALG8', 'score': 550.77}, {'connected_gene': 'INTS4', 'score': 25.31}, {'connected_gene': 'KCTD21', 'score': 20.19}, {'connected_gene': 'ENSG00000255449', 'score': 12.65}, {'connected_gene': 'LOC101928865', 'score': 12.34}, {'connected_gene': 'RPL21P95', 'score': 11.74}, {'connected_gene': 'USP35', 'score': 10.92}, {'connected_gene': 'THRSP', 'score': 10.26}]
chr11 GH11I078161 78160916 78161118 0.52 [{'connected_gene': 'KCTD21-AS1', 'score': 12.83}, {'connected_gene': 'ALG8', 'score': 12.83}, {'connected_gene': 'USP35', 'score': 12.46}, {'connected_gene': 'KCTD21', 'score': 12.46}, {'connected_gene': 'GC11P078155', 'score': 0.44}, {'connected_gene': 'GC11M078165', 'score': 0.44}, {'connected_gene': 'PIR47143', 'score': 0.44}]
chr11 GH11I078162 78162762 78163171 0.2 [{'connected_gene': 'KCTD21-AS1', 'score': 12.83}, {'connected_gene': 'ALG8', 'score': 12.83}, {'connected_gene': 'USP35', 'score': 12.46}, {'connected_gene': 'KCTD21', 'score': 12.46}, {'connected_gene': 'GC11M078165', 'score': 0.77}, {'connected_gene': 'GC11P078155', 'score': 0.44}, {'connected_gene': 'PIR47143', 'score': 0.44}]
chr11 GH11I078164 78162201 78162583 0.49 [{'connected_gene': 'KCTD21-AS1', 'score': 12.83}, {'connected_gene': 'ALG8', 'score': 12.83}, {'connected_gene': 'USP35', 'score': 12.46}, {'connected_gene': 'KCTD21', 'score': 12.46}, {'connected_gene': 'GC11M078165', 'score': 0.77}, {'connected_gene': 'GC11P078155', 'score': 0.44}, {'connected_gene': 'PIR47143', 'score': 0.44}]
chr11 GH11I078165 78161232 78161908 0.31 [{'connected_gene': 'KCTD21-AS1', 'score': 79.54}, {'connected_gene': 'ALG8', 'score': 12.83}, {'connected_gene': 'USP35', 'score': 12.46}, {'connected_gene': 'KCTD21', 'score': 12.46}, {'connected_gene': 'GC11M078165', 'score': 0.77}, {'connected_gene': 'GC11P078155', 'score': 0.44}, {'connected_gene': 'PIR47143', 'score': 0.44}]
chr11 GH11I078179 78179795 78179944 0.94 [{'connected_gene': 'KCTD21-AS1', 'score': 11.55}, {'connected_gene': 'ALG8', 'score': 11.55}, {'connected_gene': 'USP35', 'score': 0.44}, {'connected_gene': 'PIR40351', 'score': 0.44}, {'connected_gene': 'KCTD21', 'score': 0.44}]
chr11 GH11I078158 78158623 78159693 0.2 [{'connected_gene': 'KCTD21-AS1', 'score': 67.2}, {'connected_gene': 'USP35', 'score': 11.56}, {'connected_gene': 'KCTD21', 'score': 11.56}, {'connected_gene': 'INTS4', 'score': 9.01}, {'connected_gene': 'GC11P078155', 'score': 0.77}, {'connected_gene': 'PIR47143', 'score': 0.77}, {'connected_gene': 'GC11M078165', 'score': 0.44}]
chr11 GH11I078171 78171560 78173043 0.43 [{'connected_gene': 'KCTD21-AS1', 'score': 30.32}, {'connected_gene': 'KCTD21', 'score': 5.56}, {'connected_gene': 'PIR40351', 'score': 0.77}, {'connected_gene': 'USP35', 'score': 0.37}]
chr11 GH11I078250 78250906 78252085 0.71 [{'connected_gene': 'PIR56737', 'score': 550.77}, {'connected_gene': 'ENSG00000254649', 'score': 11.04}, {'connected_gene': 'GAB2', 'score': 10.47}, {'connected_gene': 'USP35', 'score': 10.23}, {'connected_gene': 'KCTD21', 'score': 10.23}, {'connected_gene': 'NARS2', 'score': 9.01}, {'connected_gene': 'LOC105369402', 'score': 0.26}]
chr11 GH11I078256 78256494 78257780 1.25 [{'connected_gene': 'ENSG00000254649', 'score': 10.81}, {'connected_gene': 'GAB2', 'score': 10.46}, {'connected_gene': 'USP35', 'score': 10.22}, {'connected_gene': 'KCTD21', 'score': 10.22}, {'connected_gene': 'NARS2', 'score': 9.6}, {'connected_gene': 'PIR56737', 'score': 0.44}, {'connected_gene': 'LOC105369402', 'score': 0.28}]
chr11 GH11I078207 78207388 78209686 0.56 [{'connected_gene': 'PIR47261', 'score': 550.77}, {'connected_gene': 'PIR44859', 'score': 550.77}, {'connected_gene': 'NARS2', 'score': 10.45}, {'connected_gene': 'USP35', 'score': 0.37}, {'connected_gene': 'KCTD21', 'score': 0.37}]
chr11 GH11I078149 78149775 78150001 0.63 [{'connected_gene': 'GC11P078150', 'score': 550.77}, {'connected_gene': 'GC11P078151', 'score': 550.77}, {'connected_gene': 'USP35', 'score': 11.91}, {'connected_gene': 'KCTD21', 'score': 11.91}, {'connected_gene': 'THRSP', 'score': 9.91}, {'connected_gene': 'INTS4', 'score': 9.48}, {'connected_gene': 'NDUFC2', 'score': 7.89}, {'connected_gene': 'KCTD21-AS1', 'score': 0.39}]
chr11 GH11I078150 78150895 78151164 0.54 [{'connected_gene': 'GC11P078150', 'score': 550.77}, {'connected_gene': 'GC11P078151', 'score': 550.77}, {'connected_gene': 'USP35', 'score': 11.91}, {'connected_gene': 'KCTD21', 'score': 11.91}, {'connected_gene': 'THRSP', 'score': 9.91}, {'connected_gene': 'INTS4', 'score': 9.48}, {'connected_gene': 'PIR47143', 'score': 0.77}, {'connected_gene': 'GC11P078155', 'score': 0.77}, {'connected_gene': 'KCTD21-AS1', 'score': 0.39}]
chr11 GH11I078213 78213175 78213324 0.51 [{'connected_gene': 'PIR32516', 'score': 0.77}, {'connected_gene': 'PIR44859', 'score': 0.77}, {'connected_gene': 'USP35', 'score': 0.34}]
chr11 GH11I078166 78166495 78167833 0.88 [{'connected_gene': 'GC11M078165', 'score': 550.77}, {'connected_gene': 'KCTD21-AS1', 'score': 17.73}, {'connected_gene': 'ALG8', 'score': 12.72}, {'connected_gene': 'USP35', 'score': 12.26}, {'connected_gene': 'KCTD21', 'score': 12.26}, {'connected_gene': 'NDUFC2', 'score': 10.66}, {'connected_gene': 'THRSP', 'score': 9.87}, {'connected_gene': 'PIR40351', 'score': 0.77}]
chr11 GH11I078163 78163642 78164980 0.72 [{'connected_gene': 'GC11M078165', 'score': 550.77}, {'connected_gene': 'KCTD21-AS1', 'score': 44.58}, {'connected_gene': 'ALG8', 'score': 12.75}, {'connected_gene': 'USP35', 'score': 12.26}, {'connected_gene': 'KCTD21', 'score': 12.26}, {'connected_gene': 'GC11P078155', 'score': 0.44}, {'connected_gene': 'PIR47143', 'score': 0.44}]
chr11 GH11I078151 78150319 78150824 0.46 [{'connected_gene': 'GC11P078150', 'score': 550.77}, {'connected_gene': 'GC11P078151', 'score': 550.77}, {'connected_gene': 'KCTD21-AS1', 'score': 53.53}, {'connected_gene': 'USP35', 'score': 11.91}, {'connected_gene': 'KCTD21', 'score': 11.91}, {'connected_gene': 'THRSP', 'score': 9.91}, {'connected_gene': 'INTS4', 'score': 9.48}]