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
ENST00000379705 [[38210772, 38211762], [38213176, 38213266], [38213394, 38213436], [38225401, 38225596], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38266135, 38266472], [38320073, 38320592], [38357092, 38357497], [38443731, 38444562]] [[38211039, 38211762], [38213176, 38213266], [38213394, 38213436], [38225401, 38225596], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38266135, 38266472], [38320073, 38320592], [38357092, 38357470]]
ENST00000379681 [[38210777, 38211762], [38213176, 38213266], [38213394, 38213436], [38225386, 38225596], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38266135, 38266472], [38320073, 38320592], [38357092, 38357497], [38443731, 38443939]] [[38211039, 38211762], [38213176, 38213266], [38213394, 38213436], [38225386, 38225596], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38266135, 38266472], [38320073, 38320592], [38357092, 38357470]]
ENST00000338947 [[38210777, 38211762], [38213176, 38213266], [38213394, 38213436], [38225401, 38225596], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38266135, 38266472], [38357092, 38357497], [38443731, 38443939]] [[38211039, 38211762], [38213176, 38213266], [38213394, 38213436], [38225401, 38225596], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38266135, 38266472], [38357092, 38357470]]
ENST00000488717 [[38210979, 38211762], [38213176, 38213266], [38213394, 38213436], [38225401, 38225596], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38320073, 38320592], [38357092, 38357470]] [[38248429, 38248504], [38320073, 38320592], [38357092, 38357470]]
ENST00000379679 [[38210979, 38211762], [38213176, 38213266], [38213394, 38213436], [38225401, 38225596], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38266135, 38266472], [38357092, 38357470]] [[38211039, 38211762], [38213176, 38213266], [38213394, 38213436], [38225401, 38225596], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38266135, 38266472], [38357092, 38357470]]
ENST00000426868 [[38210979, 38211365], [38211620, 38211762], [38213176, 38213436], [38225401, 38225596], [38229224, 38229420], [38248364, 38248504], [38266135, 38266472], [38320073, 38320592], [38357092, 38357497], [38443731, 38443860]] [[38229411, 38229420], [38248364, 38248504], [38266135, 38266472], [38320073, 38320592], [38357092, 38357470]]
ENST00000379673 [[38211001, 38211368], [38211620, 38211762], [38213176, 38213266], [38213394, 38213436], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38266135, 38266472], [38320073, 38320592], [38357092, 38357497], [38443731, 38443939]] [[38211039, 38211368], [38211620, 38211762], [38213176, 38213266], [38213394, 38213436], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38266135, 38266472], [38320073, 38320592], [38357092, 38357470]]
ENST00000355779 [[38211001, 38211362], [38213199, 38213266], [38213394, 38213436], [38225401, 38225596], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38266135, 38266472], [38320073, 38320592], [38357092, 38357497], [38443731, 38443939]] [[38211039, 38211362], [38213199, 38213266], [38213394, 38213436], [38225401, 38225596], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38266135, 38266472], [38320073, 38320592], [38357092, 38357470]]
ENST00000358477 [[38211001, 38211368], [38211620, 38211762], [38213176, 38213266], [38213394, 38213436], [38225401, 38225596], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38266135, 38266472], [38320073, 38320592], [38357092, 38357497], [38443731, 38443939]] [[38211039, 38211368], [38211620, 38211762], [38213176, 38213266], [38213394, 38213436], [38225401, 38225596], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38266135, 38266472], [38320073, 38320592], [38357092, 38357470]]
ENST00000447043 [[38211039, 38211366], [38213203, 38213266], [38213394, 38213436], [38225401, 38225596], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38266135, 38266472], [38320073, 38320592], [38357092, 38357497], [38443731, 38444562]] [[38211039, 38211366], [38213203, 38213266], [38213394, 38213436], [38225401, 38225596], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38266135, 38266472], [38320073, 38320592], [38357092, 38357470]]
ENST00000494529 [[38237564, 38237861], [38248364, 38248507]] None
NM_003306 [[38210772, 38211762], [38213176, 38213266], [38213394, 38213436], [38225386, 38225596], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38266135, 38266472], [38320073, 38320592], [38357092, 38357497], [38443731, 38443939]] [[38211039, 38211762], [38213176, 38213266], [38213394, 38213436], [38225386, 38225596], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38266135, 38266472], [38320073, 38320592], [38357092, 38357470]]
NM_016179 [[38210772, 38211762], [38213176, 38213266], [38213394, 38213436], [38225401, 38225596], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38266135, 38266472], [38320073, 38320592], [38357092, 38357497], [38443731, 38443939]] [[38211039, 38211762], [38213176, 38213266], [38213394, 38213436], [38225401, 38225596], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38266135, 38266472], [38320073, 38320592], [38357092, 38357470]]
NM_001135955 [[38210772, 38211368], [38211620, 38211762], [38213176, 38213266], [38213394, 38213436], [38225401, 38225596], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38266135, 38266472], [38320073, 38320592], [38357092, 38357497], [38443731, 38443939]] [[38211039, 38211368], [38211620, 38211762], [38213176, 38213266], [38213394, 38213436], [38225401, 38225596], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38266135, 38266472], [38320073, 38320592], [38357092, 38357470]]
NM_001135957 [[38210772, 38211362], [38213199, 38213266], [38213394, 38213436], [38225401, 38225596], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38266135, 38266472], [38320073, 38320592], [38357092, 38357497], [38443731, 38443939]] [[38211039, 38211362], [38213199, 38213266], [38213394, 38213436], [38225401, 38225596], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38266135, 38266472], [38320073, 38320592], [38357092, 38357470]]
NM_001135956 [[38210772, 38211368], [38211620, 38211762], [38213176, 38213266], [38213394, 38213436], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38266135, 38266472], [38320073, 38320592], [38357092, 38357497], [38443731, 38443939]] [[38211039, 38211368], [38211620, 38211762], [38213176, 38213266], [38213394, 38213436], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38266135, 38266472], [38320073, 38320592], [38357092, 38357470]]
NM_001135958 [[38210772, 38211762], [38213176, 38213266], [38213394, 38213436], [38225401, 38225596], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38266135, 38266472], [38357092, 38357497], [38443731, 38443939]] [[38211039, 38211762], [38213176, 38213266], [38213394, 38213436], [38225401, 38225596], [38229224, 38229420], [38237552, 38237866], [38248364, 38248504], [38266135, 38266472], [38357092, 38357470]]
Promoter
Chrom Start End Description
chr13 38443896 38443934 CAGE_peak_1_at_TRPC4_5end
chr13 38443944 38443955 CAGE_peak_3_at_TRPC4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I037590 37590767 37592277 0.2 [{'connected_gene': 'TRPC4', 'score': 4.88}, {'connected_gene': 'POSTN', 'score': 4.83}, {'connected_gene': 'LINC00547', 'score': 0.22}]
chr13 GH13I037584 37584562 37585711 0.2 [{'connected_gene': 'TRPC4', 'score': 4.86}, {'connected_gene': 'POSTN', 'score': 0.39}, {'connected_gene': 'LINC00547', 'score': 0.23}]
chr13 GH13I037616 37616032 37619145 1.01 [{'connected_gene': 'TRPC4', 'score': 4.96}, {'connected_gene': 'POSTN', 'score': 4.65}, {'connected_gene': 'GC13P037655', 'score': 0.28}]
chr13 GH13I038255 38255724 38255873 0.2 [{'connected_gene': 'TRPC4', 'score': 5.04}, {'connected_gene': 'GC13M038207', 'score': 0.44}, {'connected_gene': 'LINC00571', 'score': 0.14}]
chr13 GH13I037914 37914153 37915758 0.38 [{'connected_gene': 'TRPC4', 'score': 11.5}, {'connected_gene': 'LINC00571', 'score': 5.84}, {'connected_gene': 'GC13P037919', 'score': 0.77}]
chr13 GH13I037868 37868539 37871317 1.79 [{'connected_gene': 'TRPC4', 'score': 550.77}, {'connected_gene': 'GC13M037855', 'score': 0.39}, {'connected_gene': 'RNA5SP26', 'score': 0.39}]
chr13 GH13I037700 37700189 37703380 1.39 [{'connected_gene': 'TRPC4', 'score': 1.73}, {'connected_gene': 'GC13P037655', 'score': 0.25}, {'connected_gene': 'GC13P037774', 'score': 0.19}]
chr13 GH13I037706 37706943 37708584 0.31 [{'connected_gene': 'TRPC4', 'score': 4.09}, {'connected_gene': 'GC13P037655', 'score': 0.23}, {'connected_gene': 'GC13P037774', 'score': 0.2}]
chr13 GH13I037714 37714638 37717398 0.76 [{'connected_gene': 'SUPT20H', 'score': 4.13}, {'connected_gene': 'GC13P037774', 'score': 0.22}, {'connected_gene': 'GC13P037655', 'score': 0.21}, {'connected_gene': 'TRPC4', 'score': 0.1}]
chr13 GH13I037746 37746881 37748058 0.66 [{'connected_gene': 'EXOSC8', 'score': 13.48}, {'connected_gene': 'ALG5', 'score': 11.35}, {'connected_gene': 'GC13P037774', 'score': 0.31}, {'connected_gene': 'GC13P037655', 'score': 0.16}, {'connected_gene': 'TRPC4', 'score': 0.13}]
chr13 GH13I037594 37594005 37600107 1.83 [{'connected_gene': 'POSTN', 'score': 555.52}, {'connected_gene': 'TRPC4', 'score': 4.92}, {'connected_gene': 'LINC00547', 'score': 0.21}]
chr13 GH13I037601 37601351 37602637 0.58 [{'connected_gene': 'POSTN', 'score': 5.48}, {'connected_gene': 'TRPC4', 'score': 5.34}, {'connected_gene': 'GC13P037655', 'score': 0.23}]
chr13 GH13I037917 37917097 37917230 0.33 [{'connected_gene': 'LINC00571', 'score': 5.59}, {'connected_gene': 'GC13P037919', 'score': 0.77}, {'connected_gene': 'TRPC4', 'score': 0.25}]
chr13 GH13I037655 37655450 37658446 0.76 [{'connected_gene': 'GC13P037655', 'score': 550.77}, {'connected_gene': 'GC13P037774', 'score': 0.13}, {'connected_gene': 'TRPC4', 'score': 0.08}]
chr13 GH13I037680 37680830 37682959 0.87 [{'connected_gene': 'GC13P037655', 'score': 0.31}, {'connected_gene': 'GC13P037774', 'score': 0.16}, {'connected_gene': 'TRPC4', 'score': 0.09}]
chr13 GH13I037708 37708768 37711513 0.31 [{'connected_gene': 'GC13P037655', 'score': 0.22}, {'connected_gene': 'GC13P037774', 'score': 0.21}, {'connected_gene': 'TRPC4', 'score': 0.1}]
chr13 GH13I037899 37899864 37900013 0.38 [{'connected_gene': 'GC13P037919', 'score': 0.37}, {'connected_gene': 'TRPC4', 'score': 0.31}]
chr13 GH13I037721 37721319 37722334 0.2 [{'connected_gene': 'GC13P037774', 'score': 0.23}, {'connected_gene': 'GC13P037655', 'score': 0.2}, {'connected_gene': 'TRPC4', 'score': 0.11}]
chr13 GH13I037644 37644498 37647818 0.38 [{'connected_gene': 'GC13P037655', 'score': 0.44}, {'connected_gene': 'POSTN', 'score': 0.25}, {'connected_gene': 'TRPC4', 'score': 0.07}]
chr13 GH13I037648 37648724 37648873 0.2 [{'connected_gene': 'GC13P037655', 'score': 0.44}, {'connected_gene': 'POSTN', 'score': 0.25}, {'connected_gene': 'TRPC4', 'score': 0.07}]
chr13 GH13I037918 37918582 37919625 0.54 [{'connected_gene': 'GC13P037919', 'score': 550.77}, {'connected_gene': 'LINC00571', 'score': 5.56}, {'connected_gene': 'TRPC4', 'score': 0.25}]