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
ENST00000306353 [[85825670, 85826440], [85826647, 85826825], [85827013, 85827141], [85828143, 85828230], [85828557, 85828605], [85829006, 85829187], [85829729, 85829821]] [[85826198, 85826440], [85826647, 85826825], [85827013, 85827141], [85828143, 85828230], [85828557, 85828579]]
ENST00000431593 [[85825671, 85826440], [85826647, 85826825], [85827013, 85827141], [85828143, 85828605], [85829006, 85829792]] None
ENST00000334462 [[85825684, 85826440], [85826647, 85826825], [85827013, 85827141], [85827467, 85827535], [85828143, 85828230], [85828557, 85828605], [85829006, 85829187], [85829729, 85829801]] [[85826198, 85826440], [85826647, 85826825], [85827013, 85827141], [85827467, 85827535], [85828143, 85828230], [85828557, 85828605], [85829006, 85829071]]
ENST00000444380 [[85825700, 85826440], [85826647, 85826825], [85827013, 85827141], [85827467, 85827535], [85828143, 85828605], [85829006, 85829187], [85829729, 85829782]] None
ENST00000409668 [[85825706, 85826440], [85826647, 85826825], [85827013, 85827141], [85827467, 85827535], [85828143, 85828230], [85828557, 85828605], [85829006, 85829539]] [[85826198, 85826440], [85826647, 85826825], [85827013, 85827141], [85827467, 85827535], [85828143, 85828230], [85828557, 85828605], [85829006, 85829071]]
ENST00000463363 [[85825775, 85826451], [85827013, 85827113]] None
ENST00000422458 [[85826207, 85826440], [85826647, 85826825], [85827013, 85827141], [85828143, 85828230], [85828428, 85828605]] [[85828441, 85828579]]
ENST00000451147 [[85826714, 85826825], [85827013, 85827141], [85827467, 85827535], [85828143, 85828230], [85828428, 85828605], [85828680, 85828888]] [[85828441, 85828579]]
ENST00000417791 [[85826740, 85826825], [85827013, 85827141], [85828143, 85828605], [85829006, 85829187], [85829729, 85829788]] None
ENST00000425160 [[85827049, 85827141], [85828143, 85828230], [85828557, 85828605], [85828680, 85828881]] [[85827049, 85827141], [85828143, 85828230], [85828557, 85828579]]
ENST00000433956 [[85827467, 85827535], [85827622, 85827882], [85828143, 85828230], [85828428, 85828605], [85829006, 85829187], [85829729, 85829777]] [[85828490, 85828605], [85829006, 85829071]]
ENST00000455852 [[85828383, 85828605], [85829006, 85829187], [85830125, 85830319]] None
NM_001031738 [[85825669, 85826440], [85826647, 85826825], [85827013, 85827141], [85827467, 85827535], [85828143, 85828230], [85828557, 85828605], [85829006, 85829187], [85829729, 85829822]] [[85826198, 85826440], [85826647, 85826825], [85827013, 85827141], [85827467, 85827535], [85828143, 85828230], [85828557, 85828605], [85829006, 85829071]]
NR_033179 [[85825669, 85826440], [85826647, 85826825], [85827013, 85827141], [85828143, 85828230], [85828557, 85828605], [85829006, 85829187], [85829729, 85829822]] None
Promoter
Chrom Start End Description
chr2 85828867 85828876 CAGE_peak_14_at_TMEM150A_5end
chr2 85828888 85828896 CAGE_peak_15_at_TMEM150A_5end
chr2 85829422 85829431 CAGE_peak_6_at_TMEM150A_5end
chr2 85829444 85829455 CAGE_peak_5_at_TMEM150A_5end
chr2 85829477 85829493 CAGE_peak_4_at_TMEM150A_5end
chr2 85829496 85829544 CAGE_peak_3_at_TMEM150A_5end
chr2 85829780 85829800 CAGE_peak_1_at_TMEM150A_5end
chr2 85829811 85829828 CAGE_peak_2_at_TMEM150A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I085560 85560104 85562401 2.04 [{'connected_gene': 'VAMP8', 'score': 572.1}, {'connected_gene': 'GGCX', 'score': 550.77}, {'connected_gene': 'USP39', 'score': 16.06}, {'connected_gene': 'SH2D6', 'score': 12.56}, {'connected_gene': 'CAPG', 'score': 12.56}, {'connected_gene': 'TMEM150A', 'score': 10.59}, {'connected_gene': 'ELMOD3', 'score': 10.4}, {'connected_gene': 'RETSAT', 'score': 10.4}, {'connected_gene': 'SNORD94', 'score': 10.19}, {'connected_gene': 'GC02P085546', 'score': 0.37}]
chr2 GH02I085581 85581458 85582025 0.31 [{'connected_gene': 'VAMP8', 'score': 21.01}, {'connected_gene': 'TMEM150A', 'score': 12.05}, {'connected_gene': 'USP39', 'score': 12.05}, {'connected_gene': 'SH2D6', 'score': 11.03}, {'connected_gene': 'CAPG', 'score': 11.03}, {'connected_gene': 'MAT2A', 'score': 10.35}, {'connected_gene': 'ELMOD3', 'score': 9.43}, {'connected_gene': 'RETSAT', 'score': 9.43}, {'connected_gene': 'VAMP5', 'score': 0.77}, {'connected_gene': 'RN7SL126P', 'score': 0.39}, {'connected_gene': 'GC02M085574', 'score': 0.39}]
chr2 GH02I085575 85575989 85580699 2.13 [{'connected_gene': 'VAMP8', 'score': 571.5}, {'connected_gene': 'TMEM150A', 'score': 12.42}, {'connected_gene': 'USP39', 'score': 12.42}, {'connected_gene': 'GGCX', 'score': 11.78}, {'connected_gene': 'MAT2A', 'score': 11.27}, {'connected_gene': 'SH2D6', 'score': 11.04}, {'connected_gene': 'CAPG', 'score': 11.04}, {'connected_gene': 'ELMOD3', 'score': 10.3}, {'connected_gene': 'RETSAT', 'score': 10.3}, {'connected_gene': 'VAMP5', 'score': 0.44}, {'connected_gene': 'RN7SL126P', 'score': 0.39}, {'connected_gene': 'GC02M085574', 'score': 0.39}]
chr2 GH02I085275 85275657 85279341 1.29 [{'connected_gene': 'TCF7L1', 'score': 25.25}, {'connected_gene': 'RNU6-674P', 'score': 11.71}, {'connected_gene': 'RPS2P17', 'score': 9.67}, {'connected_gene': 'TRABD2A', 'score': 9.67}, {'connected_gene': 'SH2D6', 'score': 6.04}, {'connected_gene': 'LOC100996506', 'score': 4.53}, {'connected_gene': 'ATOH8', 'score': 2.72}, {'connected_gene': 'TMEM150A', 'score': 1.74}, {'connected_gene': 'TMSB10', 'score': 1.45}, {'connected_gene': 'ENSG00000230299', 'score': 0.37}, {'connected_gene': 'GC02M085296', 'score': 0.37}]
chr2 GH02I085740 85740802 85746199 1.7 [{'connected_gene': 'SNORD94', 'score': 35.54}, {'connected_gene': 'PTCD3', 'score': 22.2}, {'connected_gene': 'KDM3A', 'score': 20.74}, {'connected_gene': 'POLR1A', 'score': 18.96}, {'connected_gene': 'USP39', 'score': 18.55}, {'connected_gene': 'LOC100996506', 'score': 13.37}, {'connected_gene': 'C2orf68', 'score': 13.33}, {'connected_gene': 'LOC105374845', 'score': 12.4}, {'connected_gene': 'ELMOD3', 'score': 12.11}, {'connected_gene': 'MAT2A', 'score': 10.19}, {'connected_gene': 'ATOH8', 'score': 9.51}, {'connected_gene': 'VAMP5', 'score': 1.8}, {'connected_gene': 'TMEM150A', 'score': 1.75}, {'connected_gene': 'GC02M085730', 'score': 0.37}, {'connected_gene': 'RNU1-38P', 'score': 0.37}]
chr2 GH02I085497 85497532 85502234 1.69 [{'connected_gene': 'MAT2A', 'score': 29.6}, {'connected_gene': 'USP39', 'score': 23.92}, {'connected_gene': 'ELMOD3', 'score': 21.38}, {'connected_gene': 'SNORD94', 'score': 18.01}, {'connected_gene': 'RNU7-64P', 'score': 12.49}, {'connected_gene': 'RN7SL251P', 'score': 12.49}, {'connected_gene': 'CAPG', 'score': 12.28}, {'connected_gene': 'TCF7L1', 'score': 11.95}, {'connected_gene': 'TMEM150A', 'score': 10.65}, {'connected_gene': 'SH2D6', 'score': 10.62}, {'connected_gene': 'RETSAT', 'score': 9.92}, {'connected_gene': 'POLR1A', 'score': 9.76}, {'connected_gene': 'VAMP8', 'score': 7.86}, {'connected_gene': 'VAMP5', 'score': 5.79}, {'connected_gene': 'RPSAP22', 'score': 0.44}, {'connected_gene': 'GC02M085532', 'score': 0.29}]
chr2 GH02I085611 85611000 85612850 2.03 [{'connected_gene': 'C2orf68', 'score': 564.05}, {'connected_gene': 'USP39', 'score': 560.06}, {'connected_gene': 'SNORD94', 'score': 32.89}, {'connected_gene': 'ELMOD3', 'score': 12.86}, {'connected_gene': 'LOC100996506', 'score': 11.07}, {'connected_gene': 'POLR1A', 'score': 10.88}, {'connected_gene': 'TCF7L1', 'score': 10.36}, {'connected_gene': 'LOC105374845', 'score': 10.14}, {'connected_gene': 'MAT2A', 'score': 10.1}, {'connected_gene': 'TMEM150A', 'score': 0.44}]
chr2 GH02I085600 85600941 85609632 2.02 [{'connected_gene': 'TMEM150A', 'score': 550.77}, {'connected_gene': 'USP39', 'score': 25.29}, {'connected_gene': 'VAMP8', 'score': 22.26}, {'connected_gene': 'RETSAT', 'score': 14.72}, {'connected_gene': 'GGCX', 'score': 11.49}, {'connected_gene': 'SH2D6', 'score': 11.24}, {'connected_gene': 'CAPG', 'score': 11.24}, {'connected_gene': 'RNU1-38P', 'score': 10.44}, {'connected_gene': 'ELMOD3', 'score': 10.28}, {'connected_gene': 'C2orf68', 'score': 0.44}]
chr2 GH02I085563 85563801 85564529 1.02 [{'connected_gene': 'TMEM150A', 'score': 12.66}, {'connected_gene': 'USP39', 'score': 12.66}, {'connected_gene': 'VAMP5', 'score': 12.43}, {'connected_gene': 'MAT2A', 'score': 11.58}, {'connected_gene': 'SH2D6', 'score': 10.92}, {'connected_gene': 'CAPG', 'score': 10.92}, {'connected_gene': 'ELMOD3', 'score': 10.31}, {'connected_gene': 'RETSAT', 'score': 10.31}, {'connected_gene': 'RN7SL126P', 'score': 0.77}, {'connected_gene': 'GC02M085574', 'score': 0.77}, {'connected_gene': 'VAMP8', 'score': 0.77}, {'connected_gene': 'GC02P085546', 'score': 0.37}]
chr2 GH02I085554 85554371 85556140 0.43 [{'connected_gene': 'USP39', 'score': 23.14}, {'connected_gene': 'VAMP8', 'score': 17.75}, {'connected_gene': 'SH2D6', 'score': 12.57}, {'connected_gene': 'CAPG', 'score': 12.57}, {'connected_gene': 'GGCX', 'score': 11.85}, {'connected_gene': 'TMEM150A', 'score': 10.58}, {'connected_gene': 'ELMOD3', 'score': 10.41}, {'connected_gene': 'RETSAT', 'score': 10.41}, {'connected_gene': 'GC02P085546', 'score': 0.44}]
chr2 GH02I085637 85637416 85638050 0.72 [{'connected_gene': 'USP39', 'score': 17.96}, {'connected_gene': 'SFTPB', 'score': 12.51}, {'connected_gene': 'GNLY', 'score': 12.16}, {'connected_gene': 'RNU1-38P', 'score': 11.44}, {'connected_gene': 'LOC284950', 'score': 11.4}, {'connected_gene': 'TMEM150A', 'score': 11.28}, {'connected_gene': 'ATOH8', 'score': 11.1}, {'connected_gene': 'VAMP8', 'score': 10.56}, {'connected_gene': 'GC02P085634', 'score': 0.77}]
chr2 GH02I085548 85548476 85552506 1.28 [{'connected_gene': 'USP39', 'score': 19.56}, {'connected_gene': 'GGCX', 'score': 17.33}, {'connected_gene': 'VAMP8', 'score': 15.85}, {'connected_gene': 'SH2D6', 'score': 12.57}, {'connected_gene': 'CAPG', 'score': 12.57}, {'connected_gene': 'TGOLN2', 'score': 11.06}, {'connected_gene': 'TMEM150A', 'score': 11.0}, {'connected_gene': 'RNU7-64P', 'score': 10.85}, {'connected_gene': 'RN7SL251P', 'score': 10.85}, {'connected_gene': 'ELMOD3', 'score': 10.41}, {'connected_gene': 'RETSAT', 'score': 10.41}, {'connected_gene': 'TMSB10', 'score': 4.67}, {'connected_gene': 'GC02P085546', 'score': 0.77}]
chr2 GH02I085502 85502283 85508017 1.26 [{'connected_gene': 'USP39', 'score': 23.89}, {'connected_gene': 'RNU7-64P', 'score': 12.25}, {'connected_gene': 'RN7SL251P', 'score': 12.25}, {'connected_gene': 'MAT2A', 'score': 11.5}, {'connected_gene': 'TMEM150A', 'score': 10.65}, {'connected_gene': 'SH2D6', 'score': 10.62}, {'connected_gene': 'CAPG', 'score': 10.62}, {'connected_gene': 'ELMOD3', 'score': 9.91}, {'connected_gene': 'RETSAT', 'score': 9.91}, {'connected_gene': 'VAMP5', 'score': 6.83}, {'connected_gene': 'VAMP8', 'score': 6.71}, {'connected_gene': 'GGCX', 'score': 4.84}, {'connected_gene': 'RPSAP22', 'score': 0.39}, {'connected_gene': 'GC02M085532', 'score': 0.31}]
chr2 GH02I085550 85547498 85547554 0.69 [{'connected_gene': 'GC02P085546', 'score': 550.77}, {'connected_gene': 'VAMP8', 'score': 17.7}, {'connected_gene': 'SH2D6', 'score': 12.25}, {'connected_gene': 'CAPG', 'score': 12.25}, {'connected_gene': 'TMEM150A', 'score': 10.99}, {'connected_gene': 'USP39', 'score': 10.99}, {'connected_gene': 'RNU7-64P', 'score': 10.65}, {'connected_gene': 'RN7SL251P', 'score': 10.65}, {'connected_gene': 'GGCX', 'score': 0.39}]
chr2 GH02I085549 85547686 85547827 0.69 [{'connected_gene': 'GC02P085546', 'score': 550.77}, {'connected_gene': 'VAMP8', 'score': 14.87}, {'connected_gene': 'SH2D6', 'score': 12.25}, {'connected_gene': 'CAPG', 'score': 12.25}, {'connected_gene': 'TMEM150A', 'score': 10.99}, {'connected_gene': 'USP39', 'score': 10.99}, {'connected_gene': 'RNU7-64P', 'score': 10.65}, {'connected_gene': 'RN7SL251P', 'score': 10.65}, {'connected_gene': 'GGCX', 'score': 0.39}]
chr2 GH02I085544 85544438 85544587 0.8 [{'connected_gene': 'GC02P085546', 'score': 550.77}, {'connected_gene': 'GC02P085544', 'score': 550.77}, {'connected_gene': 'SH2D6', 'score': 12.25}, {'connected_gene': 'CAPG', 'score': 12.25}, {'connected_gene': 'TMEM150A', 'score': 10.99}, {'connected_gene': 'USP39', 'score': 10.99}, {'connected_gene': 'RNU7-64P', 'score': 10.65}, {'connected_gene': 'RN7SL251P', 'score': 10.65}, {'connected_gene': 'PIR40998', 'score': 0.77}, {'connected_gene': 'MAT2A', 'score': 0.44}]
chr2 GH02I085547 85547958 85548107 0.63 [{'connected_gene': 'GC02P085546', 'score': 550.77}, {'connected_gene': 'SH2D6', 'score': 12.25}, {'connected_gene': 'CAPG', 'score': 12.25}, {'connected_gene': 'USP39', 'score': 11.0}, {'connected_gene': 'TMEM150A', 'score': 10.99}, {'connected_gene': 'RNU7-64P', 'score': 10.65}, {'connected_gene': 'RN7SL251P', 'score': 10.65}, {'connected_gene': 'TMSB10', 'score': 4.67}, {'connected_gene': 'GGCX', 'score': 0.39}]
chr2 GH02I085545 85545938 85547167 1 [{'connected_gene': 'GC02P085546', 'score': 550.77}, {'connected_gene': 'GC02P085544', 'score': 550.77}, {'connected_gene': 'USP39', 'score': 32.72}, {'connected_gene': 'GGCX', 'score': 16.86}, {'connected_gene': 'SNORD94', 'score': 13.7}, {'connected_gene': 'KDM3A', 'score': 12.61}, {'connected_gene': 'SH2D6', 'score': 12.25}, {'connected_gene': 'CAPG', 'score': 12.25}, {'connected_gene': 'TMEM150A', 'score': 10.99}, {'connected_gene': 'RNU7-64P', 'score': 10.65}, {'connected_gene': 'RN7SL251P', 'score': 10.65}, {'connected_gene': 'ELMOD3', 'score': 10.28}, {'connected_gene': 'VAMP8', 'score': 6.59}, {'connected_gene': 'TMSB10', 'score': 4.67}]

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