(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the FANCE gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering FANCE transcript NM_021922.2.
(upstream sequence)
g.1005
aacgg c.-181
. . . . . . g.1065
ctgcggcttcgggcggccgggtttctccggtctcccaacgccgaggagagcttgtaacag c.-121
. . . . . . g.1125
gcgctggagctggcccgccaccgccgcgtcagggacggcgctggagtcctccgttcccct c.-61
. . . . . . g.1185
cagcctctgagctgaggccccacaccagagtagggggcggcgcggcacccgtgccccggc c.-1
. . . . . . g.1245
ATGGCGACACCGGACGCGGGGCTCCCTGGGGCTGAGGGCGTGGAGCCGGCGCCCTGGGCG c.60
M A T P D A G L P G A E G V E P A P W A p.20
. . . . . . g.1305
CAGCTGGAGGCCCCCGCCCGCCTCCTGCTGCAGGCGCTGCAGGCGGGGCCTGAGGGGGCG c.120
Q L E A P A R L L L Q A L Q A G P E G A p.40
. . . . . . g.1365
CGGCGCGGCCTGGGGGTGCTCCGGGCGCTGGGCAGCCGCGGCTGGGAGCCCTTCGACTGG c.180
R R G L G V L R A L G S R G W E P F D W p.60
. . . . . . g.1425
GGTCGCTTGCTCGAGGCCCTGTGCCGGGAGGAGCCGGTCGTGCAGGGGCCTGACGGCCGT c.240
G R L L E A L C R E E P V V Q G P D G R p.80
| 02 . . . . . g.4438
CTGGAGCT | GAAACCACTGTTGCTGCGATTGCCCCGGATATGCCAGAGGAACCTGATGTCC c.300
L E L | K P L L L R L P R I C Q R N L M S p.100
. . . . . . g.4498
CTGCTGATGGCCGTTCGGCCATCGCTGCCGGAAAGTGGGCTCCTCTCTGTGCTGCAGATT c.360
L L M A V R P S L P E S G L L S V L Q I p.120
. . . . . . g.4558
GCCCAGCAGGACCTAGCCCCTGACCCAGATGCCTGGCTCCGTGCCCTGGGGGAATTGCTG c.420
A Q Q D L A P D P D A W L R A L G E L L p.140
. . . . . . g.4618
CGAAGGGATTTGGGGGTGGGGACCTCCATGGAGGGAGCTTCTCCACTGTCTGAAAGATGC c.480
R R D L G V G T S M E G A S P L S E R C p.160
. . . . . . g.4678
CAGAGACAGCTCCAAAGTCTATGTAGGGGGCTGGGCCTGGGGGGCAGGAGGTTGAAATCC c.540
Q R Q L Q S L C R G L G L G G R R L K S p.180
. . . . . . g.4738
CCCCAGGCTCCAGACCCTGAAGAAGAGGAGAACAGGGACTCCCAGCAGCCTGGGAAACGC c.600
P Q A P D P E E E E N R D S Q Q P G K R p.200
. . . . . . g.4798
AGAAAGGACTCAGAGGAAGAGGCTGCCAGTCCTGAGGGGAAGAGGGTCCCCAAAAGATTA c.660
R K D S E E E A A S P E G K R V P K R L p.220
. . . . . . g.4858
CGGTGTTGGGAAGAGGAAGAAGATCATGAGAAGGAGAGACCCGAACATAAGTCACTGGAA c.720
R C W E E E E D H E K E R P E H K S L E p.240
. . . . . . g.4918
TCCCTGGCAGATGGAGGAAGTGCATCTCCTATTAAGGACCAGCCTGTCATGGCAGTTAAG c.780
S L A D G G S A S P I K D Q P V M A V K p.260
. . . . . . g.4978
ACTGGCGAGGACGGTTCGAATCTGGATGATGCTAAAGGTCTGGCTGAGAGTTTGGAGTTG c.840
T G E D G S N L D D A K G L A E S L E L p.280
. | 03 . . . . . g.6240
CCCAAAGCTATCCAG | GACCAGCTTCCCAGGCTGCAGCAGCTGCTGAAGACCTTGGAGGAG c.900
P K A I Q | D Q L P R L Q Q L L K T L E E p.300
| 04 . . . . . . g.6615
| GGGTTAGAGGGATTGGAGGATGCCCCCCCAGTTGAGCTACAGCTTCTTCACGAATGTAGT c.960
| G L E G L E D A P P V E L Q L L H E C S p.320
| 05 . . . . . g.6987
CCCAGCCAG | ATGGACTTGCTGTGTGCCCAGCTGCAGCTCCCTCAGCTCTCAGACCTCGGT c.1020
P S Q | M D L L C A Q L Q L P Q L S D L G p.340
. . . . . . g.7047
CTCCTGCGGCTCTGCACCTGGCTGCTGGCCCTTTCACCTGATCTCAGCCTCAGCAATGCT c.1080
L L R L C T W L L A L S P D L S L S N A p.360
. . . | 06 . . . g.7997
ACTGTGCTGACCAGAAGCCTCTTTCTTGGACGG | ATCCTCTCCTTGACTTCCTCAGCCTCC c.1140
T V L T R S L F L G R | I L S L T S S A S p.380
. . . . . . g.8057
CGCCTGCTTACAACTGCCCTGACCTCCTTCTGTGCCAAATATACATACCCTGTCTGCAGC c.1200
R L L T T A L T S F C A K Y T Y P V C S p.400
. . . | 07. . . g.8344
GCCCTCCTTGACCCTGTGCTCCAGGCCCCAGGCACAG | GTCCTGCTCAAACAGAGTTACTG c.1260
A L L D P V L Q A P G T G | P A Q T E L L p.420
. . . . . | 08 . g.9195
TGTTGCCTTGTGAAGATGGAGTCCCTGGAGCCAGATGCACAGGTTCTAATGCTGGG | ACAG c.1320
C C L V K M E S L E P D A Q V L M L G | Q p.440
. . . . . . g.9255
ATCTTGGAGCTGCCCTGGAAGGAGGAAACTTTCTTGGTGTTGCAGTCACTCCTAGAGCGG c.1380
I L E L P W K E E T F L V L Q S L L E R p.460
| 09 . . . . . . g.11485
CAG | GTGGAGATGACCCCTGAGAAGTTCAGTGTCTTAATGGAGAAGCTCTGTAAAAAGGGG c.1440
Q | V E M T P E K F S V L M E K L C K K G p.480
. . . . . . g.11545
CTGGCAGCCACCACCTCCATGGCCTATGCCAAGCTCATGCTGACAGTGATGACCAAGTAT c.1500
L A A T T S M A Y A K L M L T V M T K Y p.500
| 10 . . . . . g.14934
CAGGCTAAC | ATCACTGAGACCCAGAGGCTGGGCCTGGCTATGGCCCTAGAACCTAACACC c.1560
Q A N | I T E T Q R L G L A M A L E P N T p.520
. . . . . g.14985
ACCTTCCTGAGGAAGTCCCTGAAGGCCGCCTTGAAACATTTGGGCCCCTGA c.1611
T F L R K S L K A A L K H L G P X p.536
. . . . . . g.15045
ccatccaccaagggaccaccctcttggtgctccatcaccagcttcctgaagggcatttct c.*60
. . . . . . g.15105
ttcttcaccaccttgtcttgagccctagcctgaggataaaggctgagcctggccatccca c.*120
. . . . . . g.15165
gattgcaactgcctccctgttacaggctgcatagggaatattggcttcccagccagcagg c.*180
. . . . . . g.15225
gaggctcctgggctaagggagctcagctatattttctttttcatttcttttgtttttgag c.*240
. . . . . . g.15285
agaaggtattgctctgtcatccaggctggagtgcagtgatgcgattgatcatggctcact c.*300
. . . . . . g.15345
gtaacctctgcctcccaggctcgatcctcccatgtcagcctcccaagtagctgggactac c.*360
. . . . . . g.15405
atgcacatgacactatgcccagctaattttttattttgtagataatatgctggtcagggc c.*420
. . . . . . g.15465
tggtcttgaactcctgagctcaagtgatcttcctgccttggcacccaaagtgttgagatt c.*480
. . . . . . g.15525
tacaggtgtgagccaccacaccaggccagagctatatttccaaaggctgctggccccagg c.*540
. . . . . . g.15585
cacactcctcatcaattctcaggctgcagggacaaactttccgatagggctcagtaggat c.*600
. . . . . . g.15645
caagccgacccagagtgggcatgggatgctccaggaggtctggggtaccagtgggctcag c.*660
. . . . . . g.15705
atgaagctcttgtgctcatgtatattatgaccttctgtgtttttgtttctgacttgaata c.*720
. . . g.15744
atttatcaatggtgttgaataaaagcaagttcaataatg c.*759
(downstream sequence)
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