(used for variant description)
(last modified December 12, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_017831.3 in the RNF125 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000018.9, covering RNF125 transcript NM_017831.3.
(upstream sequence)
. . g.5022
acttctgacagtggggaaagca c.-361
. . . . . . g.5082
gctgtgtgtgatagcttggaaggtttactgctgcctcaagtcctcttctctgcagttgag c.-301
. . . . . . g.5142
gtttcaggtttcaatcctcccaataccacaagacagagcacggggcggctgccgcctccg c.-241
. . . . . . g.5202
cctccgcgccttaacctaggcggcttgccgaagatctcagccccgcggccgcgcgctcgc c.-181
. . . . . . g.5262
cctgccctagaccagggttgggcgcagcggcggaggtggcttctgggctgcgcgagctgg c.-121
. . . . . . g.5322
gagagctgggaggcggcgatcgcagctgggccgggacttccttcctccaccgcacggcaa c.-61
. . . . . . g.5382
caaaacaaccctgcggcaggcactgagtgcttcgcagctgtctgggcgagaggcacagcg c.-1
. . . . . . g.5442
ATGGGCTCCGTGCTGAGCACCGACAGCGGCAAATCGGCGCCCGCCTCTGCCACCGCGCGG c.60
M G S V L S T D S G K S A P A S A T A R p.20
. . . . . . g.5502
GCCCTGGAGCGCAGGAGGGACCCGGAGTTGCCCGTCACGTCCTTCGACTGCGCCGTGTGC c.120
A L E R R R D P E L P V T S F D C A V C p.40
. . . . | 02 . . g.23650
CTTGAGGTGTTACACCAGCCTGTCCGGACCCGCTGTGGCCACGT | ATTCTGCCGTTCCTGT c.180
L E V L H Q P V R T R C G H V | F C R S C p.60
. . . . . . g.23710
ATTGCTACCAGTCTAAAGAACAACAAGTGGACCTGTCCTTATTGCCGGGCATATCTTCCT c.240
I A T S L K N N K W T C P Y C R A Y L P p.80
. . . . . . g.23770
TCAGAAGGAGTTCCAGCAACTGATGTAGCCAAAAGAATGAAATCAGAGTATAAGAACTGC c.300
S E G V P A T D V A K R M K S E Y K N C p.100
. | 03 . . . . g.28739
GCTGAGTGTGACACCCTG | GTTTGCCTCAGTGAAATGAGGGCACATATTCGGACTTGTCAG c.360
A E C D T L | V C L S E M R A H I R T C Q p.120
. . . . . | 04 . g.32167
AAGTACATAGATAAGTATGGACCACTACAAGAACTTGAGGAGACAGCAGCAAG | GTGTGTA c.420
K Y I D K Y G P L Q E L E E T A A R | C V p.140
. . . . . . g.32227
TGTCCCTTTTGTCAGAGGGAACTGTATGAAGACAGCTTGCTGGATCATTGTATTACTCAT c.480
C P F C Q R E L Y E D S L L D H C I T H p.160
. . | 05 . . . . g.52456
CACAGATCGGAACGGAGGCCTGTG | TTCTGTCCACTTTGCCGTTTAATACCCGATGAGAAT c.540
H R S E R R P V | F C P L C R L I P D E N p.180
. . . . . . g.52516
CCAAGCAGCTTCAGTGGCAGTTTAATAAGACATCTGCAAGTTAGTCACACTTTGTTTTAT c.600
P S S F S G S L I R H L Q V S H T L F Y p.200
. | 06 . . . . . g.54864
GATGATTTCATA | GATTTTAATATAATTGAGGAAGCTCTTATCCGAAGAGTCTTAGACCGG c.660
D D F I | D F N I I E E A L I R R V L D R p.220
. . . g.54903
TCACTTCTTGAATATGTGAATCACTCGAACACCACATAA c.699
S L L E Y V N H S N T T X p.232
. . . . . . g.54963
ttttattaaaacgaagggaaaagggaccactgaattgcaccatttaagatgctgcttgaa c.*60
. . . . . . g.55023
caaatgggagggaagttgtcaatgattgatgggcaaaaatgtacaacacagttatgtgtt c.*120
. . . . . . g.55083
tgtccatgtttattgttatagtgcatttaaaaactgctttaattttaatggtttaaatct c.*180
. . . . . . g.55143
gttttacatccttgagattcttacacatctaacaacaaaaaaaattatctacatcagtca c.*240
. . . . . . g.55203
ttgttacatggaaaagacaggtggtaggcaagtaggtggaggatctcggtttgcaaatta c.*300
. . . . . . g.55263
gataatactctgtgtataatgctacatatcaataactaccatcatggttaggcacgataa c.*360
. . . . . . g.55323
ctaatctttgttctgtgtaaaaaaatatggagagtgaaacaaagtgcagacattcaaaga c.*420
. . . . . . g.55383
aataagaaatctgctccaatgctcttgttctaatctctaataggttaacgttaataatct c.*480
. . . . . . g.55443
tgtatgggagttggaaaggaaaattttggaagtcaagaaagtccatttaggccggacgcg c.*540
. . . . . . g.55503
gtggcttacgcttgtaatcccagcactttgggaggctgaagcaggcggatcacaaggtca c.*600
. . . . . . g.55563
ggagttcgagaccagcctggccaacactggtctctgtgaaactccgtctctactaaaaat c.*660
. . . . . . g.55623
acaaaaattagctggacgtgttggcgggcatctgtaataccagctacttgggaggctgag c.*720
. . . . . . g.55683
gcagaagaatcacttgaacccgggaggcagaggttacagtgagctgagatcgcaccagta c.*780
. . . . . . g.55743
cactccagcctgggtaacagagctagactccatctcaaaaaaaaaaaaaaaaaaaatcca c.*840
. . . . . . g.55803
tttaaccaaattgtcttacataatactgtaacaaaacaaattttgtgttagaaaagtata c.*900
. . . . . . g.55863
cttaattctttgactttttataactgcatacataagaattcaatatttttcaaatattta c.*960
. . . . . . g.55923
tagcttatttagaaatatttctataatataagcaatttcttaaaaaccatcagatgatac c.*1020
. . . . . . g.55983
ttacagtataagtattcacatccagactttttagtagaaaaccctaagggctttgatatc c.*1080
. . . . . . g.56043
ttttttgattgtaacattttaaaaattatgaaataaaagtactgaaaaccagacacaaaa c.*1140
. . . . . . g.56103
tttatagctgaatgccttattataaggaaatactcttttaggactcagccagtcacccca c.*1200
. . . . . . g.56163
cgtgtcctttttgtgtcctgtcacaattacaaccccacaaaagtaactgctagactgatt c.*1260
. . . . . . g.56223
taaatggtaatcactttgttgcatttgattactgctgccacacctaaatgcatatatcta c.*1320
. . . . . . g.56283
tattttaatattatcaatttaaagttgttattaaatgtatattttattttacatctcttt c.*1380
. . . . . . g.56343
tttaatctagaagttcctccttctttccagttccttaaaatttacctggtgaagaacctg c.*1440
. . . . . . g.56403
atcctaggacctatagagtttcccatactttgtattttgctgattgcacactcatggcac c.*1500
. . . . . . g.56463
ggttcagcacattgccctgtcctctcgatattagcacacagtgcaggttcaggcacattg c.*1560
. . . . . . g.56523
aatttgagaagacttaggttcagtcctttggcaagactgtaaatcacggtgtctttcttt c.*1620
. . . . . . g.56583
ccttcctccttcttctctctctctctctctctctctttccttttctttctctttttttca c.*1680
. . . . . . g.56643
gagttgcactctgttgcccaggctggagtacagtggcacgatctcgactcactgcaacct c.*1740
. . . . . . g.56703
ccatctcccgggttcaagcagttctcctgtttcagcctcccaagtagctgggactacagg c.*1800
. . . . . . g.56763
tgcacgccaccatgcccggctaatttttgtatttttagtagaggggtttcaccataatgg c.*1860
. . . . . . g.56823
tcaggctggtcttgaactcctgaactcaagtgatccaccagccttggcctcccaaaatgc c.*1920
. . . . . . g.56883
tgggattacaggcatgagccaccatgcccagctaatttttgtatttttagtagagacagg c.*1980
. . . . . . g.56943
gtttcaccataatagccaggctggtctcaaactccttaccttgtgatccgcccacctcag c.*2040
. . . . . . g.57003
ccttccaaagtgctgggattataggcgtgagccactgtgcccggcctacagggtttttat c.*2100
. . . . . . g.57063
ctaacctttctgttacaactgtacctctccttctgtactgaaagtcctggttttcaagaa c.*2160
. . . . . . g.57123
cacagggcacgatagaattagaacatcccacaattactcatttcttttatttatcttaca c.*2220
. . . . . . g.57183
cttacagctgtctcagaataacaatagaaatacaaccacaaataatatggcaattgaaac c.*2280
. . . . . . g.57243
aattaaaaagttttcatttgcttttctcattctttcccaatttttttttttttttgagat c.*2340
. . . . . . g.57303
ggagtctcgcgctcttgttgcccaggctggagtgcaatggcacgatctcggctcactgca c.*2400
. . . . . . g.57363
acctctgcctcctggattcaagcaattctcctgcctcagcttcccgagtagctgggatta c.*2460
. . . . . . g.57423
taggcatgcgccaccacgccctgctaattttgtatttttagtagagtcaggatttctcca c.*2520
. . . . . . g.57483
cattggtcaggctggcctcaaactctcgacctcaggtgatccgcctgcctcggcctccca c.*2580
. . . . . . g.57543
aagtgctgggattacaggtgtgagccactgcgcccgacatcccaatttttaaaatagtta c.*2640
. . . . . . g.57603
tactatgtcaacattttcagaacatactggtatagcatactgtactttcttccttttatc c.*2700
. . . . . . g.57663
ccccatttattcttagttcttcaactatatatttaacacttgcccccagttttgttttgt c.*2760
. . . . . . g.57723
tttgttttgaggaggaatcttgctctgttgcccaggctggagtgcagtggtgtgatcttg c.*2820
. . . . . . g.57783
gctcactgcaacctccgcctcccgggttcaagtgattctcctgcctcagcctctcgagta c.*2880
. . . . . . g.57843
gctgggattacaagtgggcaccaccacacccggctaattgttgtatttttagtagagatg c.*2940
. . . . . . g.57903
ggttttgccatgttggccaggctggttttgaactcctgacctcaagtgatccacctgtgt c.*3000
. . . . . . g.57963
tggcctcctaaagtactgggattacaggtgtgtgccaccgcgccaggcaattgcccccag c.*3060
. . . . . . g.58023
tttttatttgatggctctgactgtttctcatatctgactctttaattatgaatccagggc c.*3120
. . . . . . g.58083
atagattagtatctccatcttgtaaggatgcaaagaagccatgaaaataagtaatatcaa c.*3180
. . . . . . g.58143
ctcctgaggataaaacgttacttgactagagttagctttttaattgtaatcatttataaa c.*3240
. . . . . . g.58203
cttctttgttccttacatataagcatagtcataaccatggtacccaaaattttctataag c.*3300
. . . . . . g.58263
ttattgtaactccttaaaggtcttgctacagttcttttatccagtacaaataattgggaa c.*3360
. . . . . . g.58323
aatgtaaagctgaatgaaatctagtgagcctcatatcctcccttttagatattgatttta c.*3420
. . . . . . g.58383
agtttgcttttcacagctgctaaaaagtaacaactgatttttagttccacaacctctctt c.*3480
. . . . . . g.58443
tcttcaatttagatggatcatacaataaagcaaaatctggctggttacagtggctcacac c.*3540
. . . . . . g.58503
ctataatcccagcactttgggaggctgaggtggagggtctcatgagcccaggagttcaag c.*3600
. . . . . . g.58563
accaacctgggcaatatagtgagactctttctatttaaacaaaaacaaaaacaaacaaac c.*3660
. . . . . . g.58623
aaacaaacaaaaagctgggcatgatgcacacctttagtttcagctactaaggaggctgag c.*3720
. . . . . . g.58683
gttggaggatcacttgagcctaggaggtcaacactgcagtgagctatgatcatgctactg c.*3780
. . . . . . g.58743
ccctccagcctgggcaacagagcaagaccctgtctccaaaaacataaataattaaatata c.*3840
. . . . . . g.58803
aataaaaataaagcaaaatctgttgggaaacgagaaaaaggagaggaatttttcaggaat c.*3900
. . . . . . g.58863
aatcataaaaagaaatgatcatcagactgaaagtccagagcctgagaaatgaaaacatat c.*3960
. . . . . . g.58923
ttttaagcattggtgttgaccatgcagacaaacttttgttaattcagagcgatacaaaag c.*4020
. . . . . . g.58983
gcactttgaatctataaaacttgaaaaagttaaaaattgtatgtcggataaagctttaag c.*4080
. . . . . . g.59043
tcatctgtcactattaacctcagtgcagcaattctgactcctgtgcctggattcctttta c.*4140
. . . . . . g.59103
tgataattttgccacctacaggacagattaggtgctggtcgcctgaattattttgtgttc c.*4200
. . . . . . g.59163
tgaattattttgagctctaaaatggtaaagtacaaatactcattgttttactgtgccttt c.*4260
. . . . . . g.59223
ggccttttataaaaaggtatttataattcgttgataaaaaccaatatttgaagctgttga c.*4320
. . . . . . g.59283
ttaccaacaaaaaagtttcactctctttatagtgcttcaggatacaactttttcagggcc c.*4380
. . . . . . g.59343
ttattagagaaaaactgattcacatgttattcttctaaagctaaattattaaaatgtagg c.*4440
. . . . . . g.59403
ttgaaagattggattgattgtgaatctacactaaagatatggttccaggcagacctcctt c.*4500
. . . . . . g.59463
agagacctccaggcagacctccttactgtcttcagtgatgtttaatttcattactgttac c.*4560
. . . . . . g.59523
tgggtgccaagtgtctttcatttggaagtgaacttactccagttattgaatgtttatcat c.*4620
. . . . . . g.59583
atcataatttgcatttttccaacattgaaggtattttaaaaagtcactaagagattcatt c.*4680
. . . . . . g.59643
cttttattattcaactacaaaaaaatagtgtaatgatcagaatttaaaatgtgtgattct c.*4740
. . . . . . g.59703
ttttcttctgtaagtatgtattgctatgataaataaaaaatggcaggaccattgttttta c.*4800
g.59710
ttaaaat c.*4807
(downstream sequence)
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