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
ENST00000466986 [[96115517, 96115729], [96135934, 96136010], [96324109, 96324203], [96338999, 96339124]] None
ENST00000417009 [[96251873, 96251955], [96324109, 96324203], [96338999, 96339173]] [[96251927, 96251955], [96324109, 96324203], [96338999, 96339075]]
ENST00000444799 [[96279526, 96279831], [96324109, 96324203], [96338999, 96339170]] [[96279812, 96279831], [96324109, 96324203], [96338999, 96339075]]
ENST00000449279 [[96301875, 96302120], [96302211, 96302264], [96303057, 96303171], [96324109, 96324203], [96338999, 96339192]] [[96303071, 96303171], [96324109, 96324203], [96338999, 96339075]]
ENST00000488005 [[96302560, 96303171], [96338999, 96339163]] None
ENST00000413065 [[96302768, 96303171], [96324109, 96324203], [96338999, 96339163]] [[96303071, 96303171], [96324109, 96324203], [96338999, 96339075]]
ENST00000248566 [[96317769, 96318278], [96324109, 96324203], [96338999, 96339203]] [[96318235, 96318278], [96324109, 96324203], [96338999, 96339075]]
ENST00000476463 [[96335533, 96335707], [96337459, 96337526], [96338999, 96339185]] None
ENST00000493858 [[96110937, 96113300], [96114136, 96114166], [96115514, 96115729], [96125595, 96125653], [96132794, 96132835]] None
ENST00000482389 [[96318080, 96318278], [96324109, 96326684]] None
NM_006304 [[96318078, 96318278], [96324109, 96324203], [96338999, 96339203]] [[96318235, 96318278], [96324109, 96324203], [96338999, 96339075]]
Promoter
Chrom Start End Description
chr7 96339132 96339166 CAGE_peak_1_at_SHFM1_5end
chr7 96339167 96339197 CAGE_peak_2_at_SHFM1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I096833 96833178 96834604 0.84 [{'connected_gene': 'SEM1', 'score': 10.71}, {'connected_gene': 'DLX6', 'score': 4.78}, {'connected_gene': 'MARK2P10', 'score': 0.34}, {'connected_gene': 'LOC105375414', 'score': 0.25}]
chr7 GH07I096727 96727661 96727963 0.22 [{'connected_gene': 'SEM1', 'score': 0.37}, {'connected_gene': 'LOC105375414', 'score': 0.22}]
chr7 GH07I096596 96596589 96596738 0.57 [{'connected_gene': 'SEM1', 'score': 10.51}, {'connected_gene': 'GC07M096611', 'score': 0.37}, {'connected_gene': 'LOC105375412', 'score': 0.17}]
chr7 GH07I096708 96708272 96710620 2.05 [{'connected_gene': 'SEM1', 'score': 550.77}, {'connected_gene': 'GC07M096611', 'score': 0.15}]
chr7 GH07I096666 96666484 96666656 0.22 [{'connected_gene': 'SEM1', 'score': 11.37}, {'connected_gene': 'GC07M096611', 'score': 0.23}]
chr7 GH07I096785 96785869 96787249 0.43 [{'connected_gene': 'LOC105375414', 'score': 550.77}, {'connected_gene': 'SEM1', 'score': 0.18}]
chr7 GH07I096521 96521360 96521846 0.38 [{'connected_gene': 'LOC105375412', 'score': 0.39}, {'connected_gene': 'GC07M096611', 'score': 0.16}, {'connected_gene': 'SEM1', 'score': 0.09}]
chr7 GH07I096495 96495606 96496103 0.69 [{'connected_gene': 'LOC105375412', 'score': 0.39}, {'connected_gene': 'LOC105375411', 'score': 0.25}, {'connected_gene': 'SEM1', 'score': 0.08}]
chr7 GH07I096656 96656138 96656475 0.2 [{'connected_gene': 'GC07M096611', 'score': 0.26}, {'connected_gene': 'SEM1', 'score': 0.23}]
chr7 GH07I096657 96657030 96658418 0.38 [{'connected_gene': 'GC07M096611', 'score': 0.26}, {'connected_gene': 'SEM1', 'score': 0.23}]
chr7 GH07I096591 96591488 96592748 1.25 [{'connected_gene': 'GC07M096611', 'score': 0.34}, {'connected_gene': 'LOC105375412', 'score': 0.18}, {'connected_gene': 'SEM1', 'score': 0.13}]