(used for variant description)
(last modified February 28, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_005802.4 in the TOPORS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_017050.1, covering TOPORS transcript NM_005802.4.
(upstream sequence)
. g.5008
ctccaggaagag c.-181
. . . . . . g.5068
gcggagtcgaggtgagggagtgaaatgcttaattcaggaatggattttggagtttctggg c.-121
. . . . . . g.5128
tgctgaagaaatagggcctttccgcctgcgggcccagtgagtcgacacggtgggggcccg c.-61
. . . . . . g.5188
cgatccccgggacttaccactgaataaatccagtccagcgtgcgacgacttactggcttc c.-1
| 02 . . . . . . g.6713
ATG | GGGTCGCAGCCGCCGCTGGGGTCTCCGCTGTCTCGCGAGGAGGGTGAAGCGCCCCCG c.60
M | G S Q P P L G S P L S R E E G E A P P p.20
. . . . . . g.6773
CCTGCTCCCGCTTCGGAGGGTAGGCGGAGAAGTCGCCGGGTACGCCTTCGCGGATCCTGC c.120
P A P A S E G R R R S R R V R L R G S C p.40
. . . . . . g.6833
CGACACCGACCTAGCTTTCTGGGCTGCCGGGAGCTCGCGGCGAGCGCCCCAGCCAGGCCT c.180
R H R P S F L G C R E L A A S A P A R P p.60
. | 03 . . . . g.13340
GCGCCGGCATCCTCCGAG | ATAATGGCATCAGCTGCTAAGGAATTTAAAATGGACAACTTT c.240
A P A S S E | I M A S A A K E F K M D N F p.80
. . . . . . g.13400
TCACCTAAAGCTGGCACTAGCAAATTGCAACAGACAGTACCAGCTGATGCATCTCCTGAT c.300
S P K A G T S K L Q Q T V P A D A S P D p.100
. . . . . . g.13460
TCTAAGTGTCCTATATGCTTGGATAGATTTGATAATGTGTCTTACTTAGATCGCTGCTTA c.360
S K C P I C L D R F D N V S Y L D R C L p.120
. . . . . . g.13520
CATAAGTTCTGTTTTCGCTGTGTACAGGAGTGGTCAAAAAACAAAGCTGAATGCCCACTA c.420
H K F C F R C V Q E W S K N K A E C P L p.140
. . . . . . g.13580
TGTAAACAGCCCTTTGATTCTATTTTCCATTCTGTGAGGGCAGAAGATGACTTCAAGGAG c.480
C K Q P F D S I F H S V R A E D D F K E p.160
. . . . . . g.13640
TATGTCCTAAGGCCTTCGTATAATGGTTCTTTTGTCACCCCTGATCGACGATTTCGCTAC c.540
Y V L R P S Y N G S F V T P D R R F R Y p.180
. . . . . . g.13700
CGTACAACTCTGACAAGGGAACGAAATGCTTCTGTGTATTCACCTAGTGGTCCTGTGAAC c.600
R T T L T R E R N A S V Y S P S G P V N p.200
. . . . . . g.13760
AGAAGAACAACAACTCCACCGGATAGTGGAGTACTGTTTGAAGGGTTAGGCATTTCAACA c.660
R R T T T P P D S G V L F E G L G I S T p.220
. . . . . . g.13820
AGACCTAGAGATGTTGAAATTCCTCAGTTTATGAGACAGATTGCAGTAAGGAGGCCAACT c.720
R P R D V E I P Q F M R Q I A V R R P T p.240
. . . . . . g.13880
ACGGCAGATGAAAGATCTTTGCGGAAAATTCAAGAACAAGATATTATTAATTTTAGACGA c.780
T A D E R S L R K I Q E Q D I I N F R R p.260
. . . . . . g.13940
ACTCTTTATCGTGCTGGTGCTCGAGTTAGAAATATTGAAGATGGTGGCCGCTACAGGGAT c.840
T L Y R A G A R V R N I E D G G R Y R D p.280
. . . . . . g.14000
ATTTCAGCTGAATTTTTCCGTAGAAATCCAGCTTGCCTTCACAGATTAGTCCCCTGGTTA c.900
I S A E F F R R N P A C L H R L V P W L p.300
. . . . . . g.14060
AAACGTGAACTTACAGTTCTTTTTGGAGCTCATGGATCTTTAGTGAATATTGTCCAGCAT c.960
K R E L T V L F G A H G S L V N I V Q H p.320
. . . . . . g.14120
ATTATCATGAGTAATGTTACTCGCTATGACTTGGAGAGTCAGGCATTTGTGTCTGATTTA c.1020
I I M S N V T R Y D L E S Q A F V S D L p.340
. . . . . . g.14180
AGACCATTTTTACTTAATCGAACTGAGCATTTTATACATGAATTTATCAGTTTTGCCCGA c.1080
R P F L L N R T E H F I H E F I S F A R p.360
. . . . . . g.14240
TCTCCTTTTAACATGGCAGCCTTTGACCAGCATGCCAATTATGATTGCCCTGCTCCTTCA c.1140
S P F N M A A F D Q H A N Y D C P A P S p.380
. . . . . . g.14300
TACGAAGAAGGCAGCCATTCTGATTCTTCAGTCATAACAATATCTCCAGATGAGGCTGAG c.1200
Y E E G S H S D S S V I T I S P D E A E p.400
. . . . . . g.14360
ACCCAAGAGCTGGATATTAATGTAGCCACTGTTAGTCAGGCACCATGGGATGATGAAACT c.1260
T Q E L D I N V A T V S Q A P W D D E T p.420
. . . . . . g.14420
CCAGGACCATCTTACTCAAGCTCAGAGCAGGTACACGTTACTATGTCTTCTCTTTTAAAT c.1320
P G P S Y S S S E Q V H V T M S S L L N p.440
. . . . . . g.14480
ACTTCTGACAGTTCAGATGAAGAACTTGTCACAGGAGGAGCCACGTCTCAGATACAAGGA c.1380
T S D S S D E E L V T G G A T S Q I Q G p.460
. . . . . . g.14540
GTACAAACCAATGACGACCTAAATAATGACAGTGATGATTCTTCAGATAATTGTGTCATT c.1440
V Q T N D D L N N D S D D S S D N C V I p.480
. . . . . . g.14600
GTTGGGTTTGTTAAACCACTAGCTGAGAGGACCCCAGAACTTGTTGAACTGTCCTCTGAT c.1500
V G F V K P L A E R T P E L V E L S S D p.500
. . . . . . g.14660
TCTGAGGACTTAGGTTCTTATGAGAAAATGGAGACAGTGAAGACACAAGAACAGGAGCAA c.1560
S E D L G S Y E K M E T V K T Q E Q E Q p.520
. . . . . . g.14720
TCTTACAGTTCTGGTGATAGCGATGTTAGTAGATGCTCATCTCCACACTCTGTCCTTGGA c.1620
S Y S S G D S D V S R C S S P H S V L G p.540
. . . . . . g.14780
AAGGATGAACAAATAAATAAAGGTCATTGTGATTCTAGTACAAGAATCAAATCAAAGAAG c.1680
K D E Q I N K G H C D S S T R I K S K K p.560
. . . . . . g.14840
GAAGAGAAACGATCTACATCATTGTCATCTCCCAGAAACCTGAACTCATCTGTAAGAGGA c.1740
E E K R S T S L S S P R N L N S S V R G p.580
. . . . . . g.14900
GACAGAGTATATTCTCCATATAACCATAGACACAGAAAGAGGGGAAGATCAAGAAGTTCA c.1800
D R V Y S P Y N H R H R K R G R S R S S p.600
. . . . . . g.14960
GATTCACGTTCTCAGAGTAGAAGTGGGCATGATCAGAAGAATCATAGAAAGCATCATGGG c.1860
D S R S Q S R S G H D Q K N H R K H H G p.620
. . . . . . g.15020
AAGAAAAGAATGAAAAGTAAACGATCCAGAAGCAGGGAAAGTAGCAGACCTAGAGGGAGA c.1920
K K R M K S K R S R S R E S S R P R G R p.640
. . . . . . g.15080
AGAGACAAAAAGAGATCAAGAACTAGAGATAGCAGTTGGTCCAGAAGAAGCCAAACTCTG c.1980
R D K K R S R T R D S S W S R R S Q T L p.660
. . . . . . g.15140
TCTCTAAGTAGTGAAAGCACAAGCAGATCAAGGTCTCGTAGCAGTGATCATGGTAAAAGA c.2040
S L S S E S T S R S R S R S S D H G K R p.680
. . . . . . g.15200
AGATCACGGAGCAGAAATAGAGATCGTTATTATTTAAGAAATAATTATGGAAGCAGATAC c.2100
R S R S R N R D R Y Y L R N N Y G S R Y p.700
. . . . . . g.15260
AAATGGGAGTATACTTATTACAGTAGAAACAAGGACAGGGATGGGTACGAATCATCTTAC c.2160
K W E Y T Y Y S R N K D R D G Y E S S Y p.720
. . . . . . g.15320
AGGAGGAGGACTCTGTCCAGAGCTCATTATTCTAGACAGTCTTCAAGTCCAGAATTTAGA c.2220
R R R T L S R A H Y S R Q S S S P E F R p.740
. . . . . . g.15380
GTTCAGTCCTTTTCTGAAAGAACAAATGCTAGGAAAAAAAATAATCACAGTGAGAGGAAG c.2280
V Q S F S E R T N A R K K N N H S E R K p.760
. . . . . . g.15440
TATTACTACTATGAAAGGCACAGATCAAGGAGCCTGTCTAGTAACAGATCAAGGACTGCA c.2340
Y Y Y Y E R H R S R S L S S N R S R T A p.780
. . . . . . g.15500
TCTACCGGGACTGACCGGGTGAGAAATGAAAAGCCTGGAGGGAAACGAAAATACAAAACA c.2400
S T G T D R V R N E K P G G K R K Y K T p.800
. . . . . . g.15560
CGGCATTTGGAGGGTACTAACGAAGTGGCTCAGCCATCTCGTGAATTTGCTTCTAAAGCA c.2460
R H L E G T N E V A Q P S R E F A S K A p.820
. . . . . . g.15620
AAGGACAGTCATTACCAAAAATCTTCATCAAAATTGGATGGAAACTACAAAAATGAGAGT c.2520
K D S H Y Q K S S S K L D G N Y K N E S p.840
. . . . . . g.15680
GATACCTTTTCAGACAGCCGATCATCAGACAGAGAGACAAAACACAAAAGGAGAAAAAGG c.2580
D T F S D S R S S D R E T K H K R R K R p.860
. . . . . . g.15740
AAGACCCGGAGCCTAAGTGTAGAGATAGTTTATGAAGGAAAAGCTACTGATACAACTAAA c.2640
K T R S L S V E I V Y E G K A T D T T K p.880
. . . . . . g.15800
CACCATAAAAAGAAAAAGAAGAAACATAAGAAGAAGCATAAGAAACACCATGGAGATAAT c.2700
H H K K K K K K H K K K H K K H H G D N p.900
. . . . . . g.15860
GCTTCACGTTCCCCAGTTGTAATTACCATTGACAGTGACAGTGATAAGGATTCTGAAGTA c.2760
A S R S P V V I T I D S D S D K D S E V p.920
. . . . . . g.15920
AAGGAGGATACAGAATGTGACAATAGTGGTCCTCAAGACCCTCTACAAAATGAGTTTTTG c.2820
K E D T E C D N S G P Q D P L Q N E F L p.940
. . . . . . g.15980
GCTCCTTCCTTGGAACCATTTGAAACTAAAGATGTAGTTACAATAGAAGCTGAATTTGGT c.2880
A P S L E P F E T K D V V T I E A E F G p.960
. . . . . . g.16040
GTGCTGGACAAGGAATGTGATATTGCCACACTTAGTAACAACTTGAATAATGCCAACAAA c.2940
V L D K E C D I A T L S N N L N N A N K p.980
. . . . . . g.16100
ACTGTAGATAATATTCCACCTCTGGCAGCTTCAGTTGAACAAACTCTCGATGTAAGAGAA c.3000
T V D N I P P L A A S V E Q T L D V R E p.1000
. . . . . . g.16160
GAGAGCACCTTTGTTTCTGATTTGGAGAACCAGCCCAGTAACATTGTGTCTCTTCAAACT c.3060
E S T F V S D L E N Q P S N I V S L Q T p.1020
. . . . . . g.16220
GAGCCATCAAGGCAATTGCCATCGCCACGGACATCATTAATGTCAGTATGTCTTGGTAGA c.3120
E P S R Q L P S P R T S L M S V C L G R p.1040
. g.16238
GACTGTGATATGTCTTAA c.3138
D C D M S X p.1045
. . . . . . g.16298
aactgccaaagcatttcattgagaattatgatgttataaaaaggaaaaaggaagaatgtc c.*60
. . . . . . g.16358
gtctactgcagtctatttaaagatgacatttggtgaaaactctcttcctccttacaatat c.*120
. . . . . . g.16418
tttaaatgattttttttttggtgttaatttgtaaaaatcattatttgttcaaaatgtatg c.*180
. . . . . . g.16478
tcccaccctcaaagatatgcacttttaagtgaagaaaatgatactgctagcagcttattt c.*240
. . . . . . g.16538
aaaacttggggtcctttttaaataagaaaaattatataaattttagaagttatttcataa c.*300
. . . . . . g.16598
agccatacggtattgacatatttttaaggtagtcaatgagtatttttgaatttttttttt c.*360
. . . . . . g.16658
ttgagagttattctggaaatgtgttataagctaggagaatccctttggacagtctttatt c.*420
. . . . . . g.16718
tttcttcttaaaaatttatatgattcaaaaccatttcttcaggttaaattgaggcatttt c.*480
. . . . . . g.16778
aatctgcacagtttatcttctgccaaaataaaaatttactatttcctttatatacttgtt c.*540
. . . . . . g.16838
tatctggactgccagtaaaacaaatgtgtattcaacaaaagaaaaaaaataaaacagtaa c.*600
. . . . . . g.16898
cactttaaaacaagaatcagacattttcctatgcagtatttttttttaaagtttatttta c.*660
. . . . . . g.16958
gtaaagttaaaatcttgaaagtagctaagggcataattatgtcataaatactgaacttca c.*720
. . . . . . g.17018
ggtgaacaaatactttatagttttaattattttctttgattttgaggagtatcttatttg c.*780
. . . . . . g.17078
ctttctatcatcagtaaaaacagcatttaacttgctaaataaacatgaaaaacccttgtc c.*840
g.17081
ata c.*843
(downstream sequence)
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