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
ENST00000528796 [[3360490, 3361052], [3392204, 3392300], [3392806, 3392933], [3400267, 3400363]] [[3361038, 3361052], [3392204, 3392300], [3392806, 3392933], [3400267, 3400270]]
ENST00000354599 [[3379156, 3381795], [3392204, 3392300], [3392806, 3392933], [3400267, 3400375]] [[3380347, 3381795], [3392204, 3392300], [3392806, 3392933], [3400267, 3400270]]
ENST00000399602 [[3379995, 3381795], [3381949, 3382018], [3382972, 3383119], [3392204, 3392300], [3392806, 3392933], [3400267, 3400397]] [[3380347, 3381795], [3381949, 3382018], [3382972, 3383119], [3392204, 3392300], [3392806, 3392933], [3400267, 3400270]]
ENST00000343338 [[3380010, 3381795], [3392204, 3392300], [3392806, 3392933], [3394806, 3394821]] [[3380347, 3381795], [3392204, 3392300], [3392806, 3392933], [3394806, 3394821]]
ENST00000429541 [[3380174, 3381795], [3392204, 3392300], [3392806, 3392933], [3394806, 3394886], [3398846, 3399130], [3400267, 3400448]] [[3380347, 3381795], [3392204, 3392300], [3392806, 3392933], [3394806, 3394821]]
ENST00000005082 [[3380223, 3381795], [3382972, 3383119], [3392204, 3392300], [3392806, 3392933], [3400267, 3400346]] [[3380347, 3381795], [3382972, 3383119], [3392204, 3392300], [3392806, 3392933], [3400267, 3400270]]
ENST00000526601 [[3380346, 3381795], [3382972, 3383119], [3392204, 3392300], [3392806, 3392933], [3394806, 3394886], [3400267, 3400376]] [[3380347, 3381795], [3382972, 3383119], [3392204, 3392300], [3392806, 3392933], [3394806, 3394821]]
ENST00000438262 [[3381226, 3381795], [3383775, 3383832], [3392204, 3392300], [3392806, 3392933], [3394806, 3394886], [3400267, 3400356]] [[3383797, 3383832], [3392204, 3392300], [3392806, 3392933], [3394806, 3394821]]
ENST00000528410 [[3381268, 3381795], [3381949, 3382018], [3392204, 3392300], [3392806, 3392933], [3394806, 3394886], [3400267, 3400369]] [[3381268, 3381795], [3381949, 3382018], [3392204, 3392300], [3392806, 3392933], [3394806, 3394821]]
ENST00000528218 [[3381512, 3381795], [3382972, 3383119], [3383775, 3383832], [3392204, 3392300], [3392806, 3392933], [3394806, 3394886], [3400267, 3400368]] [[3383797, 3383832], [3392204, 3392300], [3392806, 3392933], [3394806, 3394821]]
ENST00000529789 [[3381545, 3381795], [3382972, 3383119], [3392204, 3392377]] None
ENST00000525313 [[3381549, 3381795], [3382972, 3383119], [3392172, 3392300], [3392806, 3392933], [3400267, 3400339]] [[3392190, 3392300], [3392806, 3392933], [3400267, 3400270]]
ENST00000533036 [[3381573, 3381795], [3382972, 3383119], [3383205, 3383262], [3392204, 3392300], [3392806, 3392933], [3400267, 3400382]] [[3381573, 3381795], [3382972, 3383119], [3383205, 3383262], [3392204, 3392300], [3392806, 3392933], [3400267, 3400270]]
ENST00000529228 [[3381579, 3381795], [3382972, 3383119], [3383205, 3383303], [3392204, 3392301]] [[3383241, 3383303], [3392204, 3392301]]
ENST00000526540 [[3381614, 3381795], [3381949, 3382018], [3382972, 3383119], [3383762, 3383950]] None
ENST00000529678 [[3381640, 3381795], [3392204, 3392300], [3392806, 3392933], [3394806, 3394905], [3400267, 3400369]] [[3381640, 3381795], [3392204, 3392300], [3392806, 3392933], [3394806, 3394821]]
ENST00000526598 [[3381645, 3381795], [3382972, 3383119], [3383775, 3384061]] None
ENST00000528636 [[3381682, 3381795], [3387920, 3388349]] None
ENST00000427810 [[3381707, 3381795], [3392204, 3392300], [3392806, 3392933], [3398846, 3399032], [3400267, 3400330]] [[3381707, 3381795], [3392204, 3392300], [3392806, 3392933], [3398846, 3398894]]
ENST00000534569 [[3383012, 3383119], [3392204, 3392300], [3392806, 3392933], [3394806, 3394886], [3398846, 3399032], [3400267, 3400353]] [[3383012, 3383119], [3392204, 3392300], [3392806, 3392933], [3394806, 3394821]]
ENST00000524857 [[3383038, 3383119], [3383762, 3383832], [3392204, 3392300], [3392806, 3392933], [3394806, 3394886], [3400267, 3400355]] None
ENST00000530643 [[3383247, 3383303], [3383775, 3383832], [3390586, 3390732], [3392204, 3392300], [3392806, 3392933], [3400267, 3400360]] [[3390715, 3390732], [3392204, 3392300], [3392806, 3392933], [3400267, 3400270]]
ENST00000330692 [[3384547, 3384621], [3392204, 3392300], [3392806, 3392933], [3394806, 3394886], [3400267, 3400376]] None
ENST00000525502 [[3388073, 3388287], [3392204, 3392300], [3392806, 3392933], [3400267, 3400376]] [[3388073, 3388287], [3392204, 3392300], [3392806, 3392933], [3400267, 3400270]]
ENST00000526501 [[3388175, 3388287], [3390021, 3390085], [3390586, 3390732], [3392204, 3392300], [3392806, 3392933], [3400267, 3400332]] [[3390715, 3390732], [3392204, 3392300], [3392806, 3392933], [3400267, 3400270]]
ENST00000532539 [[3390050, 3390085], [3392204, 3392300], [3392806, 3392933], [3394806, 3394886], [3400267, 3400448]] [[3390050, 3390085], [3392204, 3392300], [3392806, 3392933], [3394806, 3394821]]
ENST00000529085 [[3390470, 3390732], [3392204, 3392300], [3392806, 3392933], [3400267, 3400364]] None
ENST00000527386 [[3392209, 3392300], [3392806, 3392933], [3394806, 3394886], [3396726, 3396892], [3400267, 3400384]] None
NR_040083 [[3379156, 3381795], [3392204, 3392300], [3392806, 3392933], [3394806, 3394886], [3398846, 3399130], [3400267, 3400452]] None
NR_046382 [[3379156, 3381795], [3392204, 3392300], [3392806, 3392933], [3398846, 3399032], [3400267, 3400452]] None
NM_001256825 [[3379156, 3381795], [3392204, 3392300], [3392806, 3392933], [3394806, 3394905], [3400267, 3400452]] [[3380347, 3381795], [3392204, 3392300], [3392806, 3392933], [3394806, 3394821]]
NR_046381 [[3379156, 3381795], [3382972, 3383119], [3383775, 3383832], [3392204, 3392300], [3392806, 3392933], [3394806, 3394886], [3400267, 3400452]] None
NM_001256823 [[3379156, 3381795], [3383775, 3383832], [3392204, 3392300], [3392806, 3392933], [3394806, 3394886], [3400267, 3400452]] [[3383797, 3383832], [3392204, 3392300], [3392806, 3392933], [3394806, 3394821]]
NM_001242841 [[3379156, 3381795], [3382972, 3383119], [3392204, 3392300], [3392806, 3392933], [3394806, 3394886], [3400267, 3400452]] [[3380347, 3381795], [3382972, 3383119], [3392204, 3392300], [3392806, 3392933], [3394806, 3394821]]
NM_001256824 [[3379156, 3381795], [3383026, 3383119], [3392204, 3392300], [3392806, 3392933], [3394806, 3394886], [3400267, 3400452]] [[3380347, 3381795], [3383026, 3383119], [3392204, 3392300], [3392806, 3392933], [3394806, 3394821]]
NM_001242842 [[3379156, 3381795], [3381949, 3382018], [3392204, 3392300], [3392806, 3392933], [3394806, 3394886], [3400267, 3400452]] [[3380347, 3381795], [3381949, 3382018], [3392204, 3392300], [3392806, 3392933], [3394806, 3394821]]
NM_001242843 [[3379156, 3381795], [3392204, 3392300], [3392806, 3392933], [3394806, 3394886], [3400267, 3400452]] [[3380347, 3381795], [3392204, 3392300], [3392806, 3392933], [3394806, 3394821]]
NM_001130520 [[3379156, 3381795], [3381949, 3382018], [3382972, 3383119], [3392204, 3392300], [3392806, 3392933], [3400267, 3400452]] [[3380347, 3381795], [3381949, 3382018], [3382972, 3383119], [3392204, 3392300], [3392806, 3392933], [3400267, 3400270]]
NM_001130519 [[3379156, 3381795], [3382972, 3383119], [3392204, 3392300], [3392806, 3392933], [3400267, 3400452]] [[3380347, 3381795], [3382972, 3383119], [3392204, 3392300], [3392806, 3392933], [3400267, 3400270]]
NM_007152 [[3379156, 3381795], [3392204, 3392300], [3392806, 3392933], [3400267, 3400452]] [[3380347, 3381795], [3392204, 3392300], [3392806, 3392933], [3400267, 3400270]]
Promoter
Chrom Start End Description
chr11 3400340 3400422 CAGE_peak_1_at_ZNF195_5end
chr11 3400442 3400453 CAGE_peak_2_at_ZNF195_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I003339 3339372 3341012 0.82 [{'connected_gene': 'ZNF195', 'score': 12.23}, {'connected_gene': 'TSSC2', 'score': 12.22}, {'connected_gene': 'ENSG00000224513', 'score': 10.95}, {'connected_gene': 'MRGPRG', 'score': 10.94}, {'connected_gene': 'MRGPRG-AS1', 'score': 10.94}, {'connected_gene': 'RNU1-91P', 'score': 10.08}, {'connected_gene': 'NAP1L4', 'score': 9.93}, {'connected_gene': 'SNORA54', 'score': 9.93}, {'connected_gene': 'ART5', 'score': 9.75}, {'connected_gene': 'ART1', 'score': 9.75}, {'connected_gene': 'OR7E12P', 'score': 9.16}, {'connected_gene': 'ENSG00000254592', 'score': 0.77}, {'connected_gene': 'GC11M003340', 'score': 0.77}]
chr11 GH11I003377 3377522 3382131 2.25 [{'connected_gene': 'TSSC2', 'score': 584.22}, {'connected_gene': 'ZNF195', 'score': 583.4}, {'connected_gene': 'NUP98', 'score': 21.74}, {'connected_gene': 'RRM1', 'score': 13.6}, {'connected_gene': 'TSSC4', 'score': 13.25}]
chr11 GH11I003341 3341411 3341420 0.6 [{'connected_gene': 'GC11M003340', 'score': 550.77}, {'connected_gene': 'TSSC2', 'score': 12.23}, {'connected_gene': 'ZNF195', 'score': 12.23}, {'connected_gene': 'ENSG00000224513', 'score': 10.94}, {'connected_gene': 'MRGPRG', 'score': 10.94}, {'connected_gene': 'MRGPRG-AS1', 'score': 10.94}, {'connected_gene': 'RNU1-91P', 'score': 10.08}, {'connected_gene': 'NAP1L4', 'score': 9.93}, {'connected_gene': 'SNORA54', 'score': 9.93}, {'connected_gene': 'ART5', 'score': 9.75}, {'connected_gene': 'ART1', 'score': 9.75}, {'connected_gene': 'ENSG00000254592', 'score': 0.77}]