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
ENST00000602841 [[151129139, 151129198], [151138946, 151139017], [151139409, 151139498], [151139596, 151139694], [151139801, 151139890], [151140619, 151140814], [151141461, 151141609]] [[151139000, 151139017], [151139409, 151139498], [151139596, 151139694], [151139801, 151139890], [151140619, 151140814], [151141461, 151141561]]
ENST00000461862 [[151138497, 151138679], [151138946, 151139017], [151139409, 151139498], [151139596, 151139694], [151139801, 151140455]] None
ENST00000368905 [[151138517, 151138679], [151138946, 151139017], [151139409, 151139498], [151139596, 151139694], [151139801, 151139890], [151140619, 151140814], [151141461, 151142773]] [[151138628, 151138679], [151138946, 151139017], [151139409, 151139498], [151139596, 151139694], [151139801, 151139890], [151140619, 151140814], [151141461, 151141561]]
ENST00000471039 [[151138541, 151138679], [151138946, 151139426]] None
ENST00000368902 [[151138554, 151138728], [151138946, 151139017], [151139409, 151139498], [151139596, 151139694], [151139801, 151139890], [151140619, 151140814], [151141461, 151141614]] [[151139000, 151139017], [151139409, 151139498], [151139596, 151139694], [151139801, 151139890], [151140619, 151140814], [151141461, 151141561]]
ENST00000497147 [[151139144, 151139498], [151139596, 151139694], [151139801, 151139890], [151140619, 151140814], [151141461, 151141587]] None
ENST00000459799 [[151140343, 151140814], [151141461, 151141609]] None
NR_037937 [[151138497, 151138679], [151138946, 151139017], [151139409, 151139498], [151139596, 151139694], [151139801, 151139890], [151140669, 151140814], [151141461, 151142773]] None
NM_024041 [[151138497, 151138679], [151138946, 151139017], [151139409, 151139498], [151139596, 151139694], [151139801, 151139890], [151140619, 151140814], [151141461, 151142773]] [[151138628, 151138679], [151138946, 151139017], [151139409, 151139498], [151139596, 151139694], [151139801, 151139890], [151140619, 151140814], [151141461, 151141561]]
NM_001204856 [[151138497, 151138728], [151138946, 151139017], [151139409, 151139498], [151139596, 151139694], [151139801, 151139890], [151140619, 151140814], [151141461, 151142773]] [[151139000, 151139017], [151139409, 151139498], [151139596, 151139694], [151139801, 151139890], [151140619, 151140814], [151141461, 151141561]]
Promoter
Chrom Start End Description
chr1 151138500 151138510 CAGE_peak_2_at_SCNM1_5end
chr1 151138526 151138638 CAGE_peak_1_at_SCNM1_5end
chr1 151139131 151139168 CAGE_peak_3_at_SCNM1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I151193 151193772 151201520 2.8 [{'connected_gene': 'PIP5K1A', 'score': 567.8}, {'connected_gene': 'ZNF687', 'score': 32.08}, {'connected_gene': 'LYSMD1', 'score': 21.02}, {'connected_gene': 'ARNT', 'score': 20.88}, {'connected_gene': 'RPRD2', 'score': 19.3}, {'connected_gene': 'PRPF3', 'score': 18.03}, {'connected_gene': 'SETDB1', 'score': 17.41}, {'connected_gene': 'BNIPL', 'score': 15.97}, {'connected_gene': 'PSMD4', 'score': 15.35}, {'connected_gene': 'CTSK', 'score': 14.63}, {'connected_gene': 'PI4KB', 'score': 13.58}, {'connected_gene': 'GABPB2', 'score': 13.33}, {'connected_gene': 'TMOD4', 'score': 13.26}, {'connected_gene': 'GOLPH3L', 'score': 13.15}, {'connected_gene': 'UBE2D3P3', 'score': 13.01}, {'connected_gene': 'SCNM1', 'score': 12.48}, {'connected_gene': 'RPS10P6', 'score': 11.82}, {'connected_gene': 'LOC100507670', 'score': 10.61}, {'connected_gene': 'MRPL9', 'score': 10.32}, {'connected_gene': 'C1orf56', 'score': 9.97}, {'connected_gene': 'PSMB4', 'score': 9.94}, {'connected_gene': 'RN7SL444P', 'score': 9.79}, {'connected_gene': 'POGZ', 'score': 9.77}, {'connected_gene': 'SELENBP1', 'score': 9.57}, {'connected_gene': 'RNU6-884P', 'score': 9.36}, {'connected_gene': 'PRUNE1', 'score': 9.35}, {'connected_gene': 'CTSS', 'score': 6.66}, {'connected_gene': 'HORMAD1', 'score': 4.52}, {'connected_gene': 'TUFT1', 'score': 2.37}, {'connected_gene': 'SNX27', 'score': 1.25}, {'connected_gene': 'MINDY1', 'score': 1.22}, {'connected_gene': 'VPS72', 'score': 0.77}]
chr1 GH01I151099 151099905 151100054 0.66 [{'connected_gene': 'TNFAIP8L2', 'score': 11.89}, {'connected_gene': 'SEMA6C', 'score': 11.34}, {'connected_gene': 'GABPB2', 'score': 11.31}, {'connected_gene': 'MINDY1', 'score': 10.95}, {'connected_gene': 'PRUNE1', 'score': 10.95}, {'connected_gene': 'TMOD4', 'score': 10.92}, {'connected_gene': 'SCNM1', 'score': 10.83}, {'connected_gene': 'LYSMD1', 'score': 10.81}, {'connected_gene': 'VPS72', 'score': 10.69}, {'connected_gene': 'PIP5K1A', 'score': 10.69}, {'connected_gene': 'RNU6-884P', 'score': 10.67}, {'connected_gene': 'C1orf56', 'score': 10.66}, {'connected_gene': 'BNIPL', 'score': 10.64}, {'connected_gene': 'PSMD4', 'score': 10.62}, {'connected_gene': 'RPS29P29', 'score': 0.39}]
chr1 GH01I151164 151164487 151167610 2.12 [{'connected_gene': 'LYSMD1', 'score': 561.0}, {'connected_gene': 'SCNM1', 'score': 550.44}, {'connected_gene': 'PRPF3', 'score': 81.2}, {'connected_gene': 'SETDB1', 'score': 80.61}, {'connected_gene': 'PI4KB', 'score': 65.15}, {'connected_gene': 'ARNT', 'score': 58.05}, {'connected_gene': 'UBE2D3P3', 'score': 55.7}, {'connected_gene': 'ZNF687', 'score': 54.22}, {'connected_gene': 'PIP5K1A', 'score': 46.86}, {'connected_gene': 'CTSK', 'score': 44.17}, {'connected_gene': 'GOLPH3L', 'score': 39.21}, {'connected_gene': 'GABPB2', 'score': 30.11}, {'connected_gene': 'RN7SL444P', 'score': 27.21}, {'connected_gene': 'MRPL9', 'score': 19.06}, {'connected_gene': 'APH1A', 'score': 18.68}, {'connected_gene': 'PSMB4', 'score': 18.22}, {'connected_gene': 'POGZ', 'score': 13.68}, {'connected_gene': 'RPS10P6', 'score': 11.82}, {'connected_gene': 'RPRD2', 'score': 10.95}, {'connected_gene': 'SEMA6C', 'score': 4.94}, {'connected_gene': 'BNIPL', 'score': 4.79}, {'connected_gene': 'TNFAIP8L2-SCNM1', 'score': 0.44}, {'connected_gene': 'GC01M151175', 'score': 0.39}]
chr1 GH01I151134 151134558 151137286 0.54 [{'connected_gene': 'BNIPL', 'score': 21.63}, {'connected_gene': 'GABPB2', 'score': 16.97}, {'connected_gene': 'SEMA6C', 'score': 13.11}, {'connected_gene': 'TNFAIP8L2', 'score': 11.82}, {'connected_gene': 'TMOD4', 'score': 11.15}, {'connected_gene': 'MINDY1', 'score': 11.0}, {'connected_gene': 'PRUNE1', 'score': 11.0}, {'connected_gene': 'SCNM1', 'score': 10.88}, {'connected_gene': 'LYSMD1', 'score': 10.84}, {'connected_gene': 'RNU6-884P', 'score': 10.66}, {'connected_gene': 'VPS72', 'score': 10.36}, {'connected_gene': 'PIP5K1A', 'score': 10.35}, {'connected_gene': 'PSMD4', 'score': 5.4}, {'connected_gene': 'ENSG00000261168', 'score': 0.77}]
chr1 GH01I151125 151125848 151126821 0.54 [{'connected_gene': 'BNIPL', 'score': 28.66}, {'connected_gene': 'SEMA6C', 'score': 11.44}, {'connected_gene': 'TNFAIP8L2', 'score': 11.01}, {'connected_gene': 'GABPB2', 'score': 10.87}, {'connected_gene': 'C1orf56', 'score': 10.87}, {'connected_gene': 'SCNM1', 'score': 10.54}, {'connected_gene': 'LYSMD1', 'score': 10.52}, {'connected_gene': 'MINDY1', 'score': 10.46}, {'connected_gene': 'PRUNE1', 'score': 10.46}, {'connected_gene': 'TMOD4', 'score': 10.3}, {'connected_gene': 'RNU6-884P', 'score': 10.2}, {'connected_gene': 'VPS72', 'score': 10.19}, {'connected_gene': 'PIP5K1A', 'score': 10.18}, {'connected_gene': 'PSMD4', 'score': 5.35}, {'connected_gene': 'ENSG00000261168', 'score': 0.44}, {'connected_gene': 'RPS29P29', 'score': 0.39}]
chr1 GH01I150998 150998771 150999983 1.31 [{'connected_gene': 'RNU6-884P', 'score': 11.71}, {'connected_gene': 'CERS2', 'score': 11.42}, {'connected_gene': 'ENSG00000231073', 'score': 11.4}, {'connected_gene': 'BNIPL', 'score': 11.15}, {'connected_gene': 'C1orf56', 'score': 11.12}, {'connected_gene': 'SCNM1', 'score': 9.75}, {'connected_gene': 'LYSMD1', 'score': 9.74}, {'connected_gene': 'TMOD4', 'score': 9.54}, {'connected_gene': 'MINDY1', 'score': 0.44}, {'connected_gene': 'ANXA9', 'score': 0.37}]
chr1 GH01I151000 151000932 151001658 1 [{'connected_gene': 'RNU6-884P', 'score': 11.71}, {'connected_gene': 'ENSG00000231073', 'score': 11.4}, {'connected_gene': 'CERS2', 'score': 11.4}, {'connected_gene': 'SEMA6C', 'score': 11.23}, {'connected_gene': 'BNIPL', 'score': 11.15}, {'connected_gene': 'C1orf56', 'score': 11.12}, {'connected_gene': 'SCNM1', 'score': 9.75}, {'connected_gene': 'LYSMD1', 'score': 9.74}, {'connected_gene': 'TMOD4', 'score': 9.54}, {'connected_gene': 'MINDY1', 'score': 0.44}, {'connected_gene': 'ANXA9', 'score': 0.37}]
chr1 GH01I151156 151156125 151161039 1.82 [{'connected_gene': 'TNFAIP8L2-SCNM1', 'score': 550.77}, {'connected_gene': 'TNFAIP8L2', 'score': 550.77}, {'connected_gene': 'SCNM1', 'score': 550.77}, {'connected_gene': 'SEMA6C', 'score': 16.82}, {'connected_gene': 'BNIPL', 'score': 5.76}, {'connected_gene': 'LYSMD1', 'score': 0.44}]