(used for variant description)
(last modified November 19, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_173560.3 in the RFX6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_027699.1, covering RFX6 transcript NM_173560.3.
(upstream sequence)
g.5003
ggc c.-61
. . . . . . g.5063
tggggctccgctggggaaccggccgagcggcgcgcgcggaggtgtccggcggccaggagg c.-1
. . . . . . g.5123
ATGGCCAAGGTCCCGGAGCTGGAAGACACCTTCCTGCAGGCGCAGCCTGCGCCCCAACTG c.60
M A K V P E L E D T F L Q A Q P A P Q L p.20
. . . . . . g.5183
TCCCCGGGGATCCAGGAAGACTGCTGTGTGCAGCTCCTGGGCAAGGGCTTGCTAGTCTAT c.120
S P G I Q E D C C V Q L L G K G L L V Y p.40
. . . . . . g.5243
CCGGAAGAAACAGTGTACCTGGCGGCCGAAGGGCAGCCCGGGGGCGAGCAGGGCGGCGGG c.180
P E E T V Y L A A E G Q P G G E Q G G G p.60
. . . . | 02 . . g.5600
GAGAAAGGCGAAGACCCGGAGCTGCCGGGGGCAGTGAAATCAG | AAATGCACTTAAACAAT c.240
E K G E D P E L P G A V K S E | M H L N N p.80
. . . . . . g.5660
GGTAACTTTTCCTCTGAAGAAGAGGACGCCGACAACCACGACAGCAAAACCAAAGCAGCG c.300
G N F S S E E E D A D N H D S K T K A A p.100
. . . . . . g.5720
GATCAATACCTGTCTCAGAAGAAAACCATCACGCAGATTGTGAAGGATAAAAAGAAGCAG c.360
D Q Y L S Q K K T I T Q I V K D K K K Q p.120
. . | 03 . . . . g.8371
ACACAGCTCACGCTGCAGTG | GCTTGAAGAGAATTACATTGTATGTGAAGGAGTTTGCTTA c.420
T Q L T L Q W | L E E N Y I V C E G V C L p.140
. . . . . . g.8431
CCACGGTGCATTCTTTATGCACACTACTTAGATTTCTGTAGGAAAGAGAAATTAGAGCCA c.480
P R C I L Y A H Y L D F C R K E K L E P p.160
. . | 04 . . . . g.10190
GCCTGTGCGGCCACCTTTGGAAAG | ACAATTCGCCAGAAGTTTCCCCTCCTAACAACAAGG c.540
A C A A T F G K | T I R Q K F P L L T T R p.180
. . | 05 . . . . g.21808
CGGCTTGGAACAAGAGGCCATTCAAA | GTATCATTACTATGGGATTGGCATCAAAGAGAGC c.600
R L G T R G H S K | Y H Y Y G I G I K E S p.200
. . . . | 06 . . g.22983
AGTGCATATTACCACTCCGTTTATTCTGGAAAGGGCTTGACAAG | GTTTTCTGGAAGCAAG c.660
S A Y Y H S V Y S G K G L T R | F S G S K p.220
. | 07 . . . . . g.38770
CTAAAGAATGAG | GGTGGCTTCACTCGTAAATATTCGCTTAGCTCAAAAACTGGAACACTT c.720
L K N E | G G F T R K Y S L S S K T G T L p.240
. . . . . . g.38830
CTTCCAGAATTCCCCAGCGCTCAACACCTTGTATACCAAGGATGCATTTCTAAGGACAAG c.780
L P E F P S A Q H L V Y Q G C I S K D K p.260
| 08 . . . . . . g.43855
| GTTGATACGCTCATAATGATGTACAAAACTCACTGCCAGTGTATCCTGGACAATGCAATT c.840
| V D T L I M M Y K T H C Q C I L D N A I p.280
. | 09 . . . . g.44030
AATGGAAACTTTGAAGAG | ATCCAGCATTTTTTATTACACTTTTGGCAAGGAATGCCTGAC c.900
N G N F E E | I Q H F L L H F W Q G M P D p.300
. . . . . . g.44090
CATCTCCTTCCCCTGCTCGAAAATCCTGTTATCATTGATATTTTCTGTGTTTGTGACTCA c.960
H L L P L L E N P V I I D I F C V C D S p.320
. | 10 . . . . . g.45872
ATTCTTTATAAG | GTTCTTACAGATGTACTCATTCCTGCAACAATGCAAGAAATGCCTGAA c.1020
I L Y K | V L T D V L I P A T M Q E M P E p.340
| 11 . . . . . . g.46982
AG | CTTATTAGCAGACATAAGAAATTTTGCTAAAAATTGGGAACAGTGGGTTGTTTCATCC c.1080
S | L L A D I R N F A K N W E Q W V V S S p.360
. . . . . . g.47042
TTGGAAAACTTGCCAGAAGCTCTAACTGACAAGAAAATACCTATTGTGCGAAGATTTGTA c.1140
L E N L P E A L T D K K I P I V R R F V p.380
. . . . | 12 . . g.48115
TCTTCTCTGAAACGACAAACATCTTTCTTACATCTTGCCCAG | ATTGCCAGACCAGCTCTC c.1200
S S L K R Q T S F L H L A Q | I A R P A L p.400
. . . . . . g.48175
TTTGACCAGCATGTCGTTAATTCTATGGTGTCTGATATTGAAAGGGTTGATTTGAACAGC c.1260
F D Q H V V N S M V S D I E R V D L N S p.420
. . . . . . g.48235
ATTGGCTCTCAAGCCCTTCTTACCATTTCAGGCAGCACAGACACTGAATCTGGTATCTAC c.1320
I G S Q A L L T I S G S T D T E S G I Y p.440
| 13. . . . . . g.49882
ACTGAAC | ATGACTCTATCACTGTGTTCCAAGAACTGAAGGATCTCCTTAAGAAGAATGCC c.1380
T E H | D S I T V F Q E L K D L L K K N A p.460
. . . . . | 14. g.50897
ACTGTGGAGGCTTTTATTGAATGGTTGGATACTGTGGTAGAACAGAGAGTTATTAAG | ACC c.1440
T V E A F I E W L D T V V E Q R V I K | T p.480
. . . . . . g.50957
AGCAAACAAAATGGAAGGTCATTAAAGAAGAGAGCTCAAGACTTTCTGTTAAAGTGGAGT c.1500
S K Q N G R S L K K R A Q D F L L K W S p.500
. . . . . | 15 . g.52461
TTTTTTGGTGCTCGAGTAATGCATAATCTCACCTTGAACAATGCATCCAGTTTTG | GTTCT c.1560
F F G A R V M H N L T L N N A S S F G | S p.520
. . . . . . g.52521
TTTCATTTGATTCGAATGCTTCTCGATGAATACATTCTCCTGGCCATGGAGACCCAGTTT c.1620
F H L I R M L L D E Y I L L A M E T Q F p.540
. . . . . | 16 g.53242
AATAATGACAAAGAGCAGGAGTTACAGAATTTATTGGACAAGTATATGAAGAATTCAG | AT c.1680
N N D K E Q E L Q N L L D K Y M K N S D | p.560
. . . . . . g.53302
GCGAGTAAAGCTGCTTTCACTGCTTCTCCGAGTTCATGCTTTCTGGCCAACCGTAATAAA c.1740
A S K A A F T A S P S S C F L A N R N K p.580
. . . . . . g.53362
GGGAGCATGGTTTCCAGCGACGCTGTGAAGAATGAAAGCCACGTGGAGACAACCTATCTC c.1800
G S M V S S D A V K N E S H V E T T Y L p.600
. . . . . . g.53422
CCTCTGCCATCCAGTCAACCTGGAGGCCTAGGCCCTGCTCTGCACCAGTTCCCTGCTGGG c.1860
P L P S S Q P G G L G P A L H Q F P A G p.620
. . | 17 . . . . g.54849
AACACAGACAACATGCCGCTCACAG | GTCAAATGGAGCTTTCACAGATTGCTGGTCATCTG c.1920
N T D N M P L T G | Q M E L S Q I A G H L p.640
. . . . . . g.54909
ATGACACCACCCATTTCTCCAGCCATGGCAAGCCGAGGAAGTGTCATTAACCAAGGACCA c.1980
M T P P I S P A M A S R G S V I N Q G P p.660
. . . . . . g.54969
ATGGCAGGGAGGCCCCCAAGTGTGGGCCCAGTACTGTCAGCTCCATCACACTGCTCCACA c.2040
M A G R P P S V G P V L S A P S H C S T p.680
. . . . . . g.55029
TACCCAGAGCCCATTTATCCCACTCTCCCTCAAGCCAATCATGACTTTTATAGCACCAGC c.2100
Y P E P I Y P T L P Q A N H D F Y S T S p.700
. . . . . . g.55089
TCTAACTACCAGACTGTGTTTAGGGCACAGCCCCACTCCACATCAGGACTCTATCCTCAT c.2160
S N Y Q T V F R A Q P H S T S G L Y P H p.720
. . . . . . g.55149
CACACCGAGCATGGTCGATGCATGGCTTGGACTGAACAGCAGCTTTCAAGAGACTTCTTC c.2220
H T E H G R C M A W T E Q Q L S R D F F p.740
. . . . . . g.55209
AGTGGCAGCTGTGCGGGGTCTCCATATAACTCCCGGCCACCGTCTAGCTATGGCCCATCC c.2280
S G S C A G S P Y N S R P P S S Y G P S p.760
. . . . . . g.55269
CTGCAAGCCCAGGATTCACACAATATGCAGTTTTTAAATACAGGAAGCTTCAATTTCTTG c.2340
L Q A Q D S H N M Q F L N T G S F N F L p.780
. . . . . | 18 g.56548
AGCAACACAGGAGCTGCCAGCTGCCAAGGAGCAACACTGCCTCCTAATTCACCAAATG | GA c.2400
S N T G A A S C Q G A T L P P N S P N G | p.800
. . . . . . g.56608
TACTATGGAAGCAACATAAACTACCCAGAGTCTCACAGGCTCGGATCAATGGTGAATCAG c.2460
Y Y G S N I N Y P E S H R L G S M V N Q p.820
. . . . . . g.56668
CACGTTTCTGTCATCAGCAGCATTCGTTCACTGCCCCCCTACAGTGACATCCACGATCCA c.2520
H V S V I S S I R S L P P Y S D I H D P p.840
. . . . . . g.56728
CTTAACATTTTAGATGACAGTGGTAGAAAACAGACCAGCTCGTTTTACACAGACACATCA c.2580
L N I L D D S G R K Q T S S F Y T D T S p.860
. . . | 19 . . . g.59147
TCTCCAGTTGCATGTCGAACTCCAGTCCTAG | CTTCCAGTTTGCAAACCCCAATTCCTTCT c.2640
S P V A C R T P V L A | S S L Q T P I P S p.880
. . . . . . g.59207
TCCTCATCCCAATGTATGTATGGAACTTCCAACCAGTATCCAGCTCAAGAAACCCTGGAC c.2700
S S S Q C M Y G T S N Q Y P A Q E T L D p.900
. . . . . . g.59267
TCCCATGGAACAAGCAGTAGAGAAATGGTGTCCTCTTTACCACCTATCAACACTGTGTTC c.2760
S H G T S S R E M V S S L P P I N T V F p.920
. . g.59294
ATGGGAACAGCAGCTGGAGGCACTTAA c.2787
M G T A A G G T X p.928
. . . . . . g.59354
accaccaatgtgggagggggtgctaaaactttaaaaaaaatctctactgtgcaaatatca c.*60
. . . . . . g.59414
ttattcactcagacttccataagagtaaataaaaatgaatatgcagtggctgacattgtt c.*120
. . . . . . g.59474
ttaaagtcactggtactatggacaactccatagtgaatggagatacttgcagagcttgtc c.*180
. . . . . . g.59534
atgcacactaagagtttaaaatgtgagctcattattaatcatagtttcaaaattatcaaa c.*240
. . . . . . g.59594
taaaaccagtgaagatctgaagatgcaaacatttcaactatgaagatttacatttcactt c.*300
. . . . . . g.59654
tctaatttattaaacatctgtgtgcctttttatctttggtttcttttaaaaagtatattt c.*360
. . . . . . g.59714
aatgcctttacaatacctttaatttattaggatctcagaatcattgtttactatccctta c.*420
. . . . . . g.59774
tttgacaaaaagtcaaatgtgtatgttctacctccaacggaaatgtttacaaggtcaaga c.*480
. . . . . . g.59834
cttaattcaattcagacaagaccaaagttgcttgacttcaattcctgtgcattagtgtga c.*540
. . . . . . g.59894
tgatttctgtcacatagcagcattccgattctatgtaactgaatggagatgataagtgct c.*600
. . . . . g.59951
ttcccctctttatttaaaaaagattaaaaggaataaaagaaataatgtatggaaata c.*657
(downstream sequence)
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