(used for variant description)
(last modified November 24, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_007051.2 in the FAF1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering FAF1 transcript NM_007051.2.
(upstream sequence)
. . . g.5033
caggggcggaggcggcggccagggaggaagcgg c.-421
. . . . . . g.5093
aggaggcggaggcggccgcggcgttcgcccgcccgctcgctcgctcggtttccccgcccc c.-361
. . . . . . g.5153
cgccgggcttaacgccgctgaaggtatccgggtgcgcgctgtcgcaacctgccctcatcc c.-301
. . . . . . g.5213
tggcccgcgactgtaagaccggacccacatccagaccaatcttcctgtccgggctgctgc c.-241
. . . . . . g.5273
gacgcgggctccgcaggttgcaggcgggcggccggggcgcctgaaggttaccgagtgcat c.-181
. . . . . . g.5333
gagcgcctagcgcttcccgcgctgccccgcccgctggcccgccgacccgcccgccggctc c.-121
. . . . . . g.5393
gcccgccagcccctcggcgcccggcggcggcggcggcggtggcggcgacggtcgcaggag c.-61
. . . . . . g.5453
gtgccgtctgcctcccaggtgcgcgcttcgctcccggagccgcggaactcggcggccgcc c.-1
. . . . | 02 . . g.107282
ATGGCGTCCAACATGGACCGGGAGATGATCCTGGCGGATTTTCAG | GCATGTACTGGCATT c.60
M A S N M D R E M I L A D F Q | A C T G I p.20
. . . . . | 03 . g.163593
GAAAACATTGACGAAGCTATTACATTGCTTGAACAAAATAATTGGGACTTAGTG | GCAGCT c.120
E N I D E A I T L L E Q N N W D L V | A A p.40
. . . . | 04 . . g.177078
ATCAATGGTGTAATACCACAGGAAAATGGCATTCTACAAAG | TGAATATGGAGGTGAGACC c.180
I N G V I P Q E N G I L Q S | E Y G G E T p.60
. . . . . . g.177138
ATACCAGGACCTGCATTTAATCCAGCAAGTCATCCAGCTTCAGCTCCTACTTCCTCTTCT c.240
I P G P A F N P A S H P A S A P T S S S p.80
. . . . . . g.177198
TCTTCAGCGTTTCGACCTGTAATGCCATCCAGGCAGATTGTAGAAAGGCAACCTCGGATG c.300
S S A F R P V M P S R Q I V E R Q P R M p.100
. . . . . . g.177258
CTGGACTTCAGGGTTGAATACAGAGACAGAAATGTTGATGTGGTACTTGAAGACACCTGT c.360
L D F R V E Y R D R N V D V V L E D T C p.120
| 05. . . . . . g.220542
ACTGTTG | GAGAGATTAAACAGATTCTAGAAAATGAACTTCAGATACCTGTGTCCAAAATG c.420
T V G | E I K Q I L E N E L Q I P V S K M p.140
. . . | 06 . . g.226331
CTGTTAAAAGGCTGGAAGACGGGAGATGTGGAAGACAGT | ACGGTCCTAAAATCTCTACAC c.480
L L K G W K T G D V E D S | T V L K S L H p.160
. . . . . . g.226391
TTGCCAAAAAACAACAGTCTTTATGTCCTTACACCAGATTTGCCACCACCTTCATCATCT c.540
L P K N N S L Y V L T P D L P P P S S S p.180
. | 07 . . . . . g.259422
AGTCATGCTGG | TGCCCTGCAGGAGTCATTAAATCAAAACTTCATGCTGATCATCACCCAC c.600
S H A G | A L Q E S L N Q N F M L I I T H p.200
. . . . . | 08. g.309739
CGAGAAGTCCAGCGGGAGTACAACCTGAACTTCTCAGGAAGCAGTACTATTCAAGAG | GTA c.660
R E V Q R E Y N L N F S G S S T I Q E | V p.220
. . . . . . g.309799
AAGAGAAATGTGTATGACCTTACAAGTATCCCCGTTCGCCACCAATTATGGGAGGGCTGG c.720
K R N V Y D L T S I P V R H Q L W E G W p.240
. . | 09 . . . . g.369084
CCAACTTCTGCTACAGACGACTCA | ATGTGTCTTGCTGAATCAGGGCTCTCTTATCCCTGC c.780
P T S A T D D S | M C L A E S G L S Y P C p.260
. . . . . . g.369144
CATCGACTTACAGTGGGAAGAAGATCTTCACCTGCACAGACCCGGGAACAGTCGGAAGAA c.840
H R L T V G R R S S P A Q T R E Q S E E p.280
| 10 . . . . . . g.380513
| CAAATCACCGATGTTCATATGGTTAGTGATAGCGATGGAGATGACTTTGAAGATGCTACA c.900
| Q I T D V H M V S D S D G D D F E D A T p.300
. . . . . . g.380573
GAATTTGGGGTGGATGATGGAGAAGTATTTGGCATGGCGTCATCTGCCTTGAGAAAATCT c.960
E F G V D D G E V F G M A S S A L R K S p.320
| 11. . . . . . g.381602
CCAATGA | TGCCAGAAAACGCAGAAAATGAAGGAGATGCCTTATTACAATTTACAGCAGAG c.1020
P M M | P E N A E N E G D A L L Q F T A E p.340
. | 12 . . . . . g.382614
TTTTCTTCAAG | ATATGGTGATTGCCATCCTGTATTTTTTATTGGCTCATTAGAAGCTGCT c.1080
F S S R | Y G D C H P V F F I G S L E A A p.360
. . . | 13 . . . g.398060
TTTCAAGAGGCCTTCTATGTGAAAGCCCGAGAT | AGAAAGCTTCTTGCTATCTACCTCCAC c.1140
F Q E A F Y V K A R D | R K L L A I Y L H p.380
. . . . . . g.398120
CATGATGAAAGTGTGTTAACCAACGTGTTCTGCTCACAAATGCTTTGTGCTGAATCCATT c.1200
H D E S V L T N V F C S Q M L C A E S I p.400
. . . . . . g.398180
GTTTCTTATCTGAGTCAAAATTTTATAACCTGGGCTTGGGATCTGACAAAGGACTCCAAC c.1260
V S Y L S Q N F I T W A W D L T K D S N p.420
| 14 . . . . . g.425588
AGAGCAAG | ATTTCTCACTATGTGCAATAGACACTTTGGCAGTGTTGTGGCACAAACCATT c.1320
R A R | F L T M C N R H F G S V V A Q T I p.440
. . . . . . g.425648
CGGACTCAAAAAACGGATCAGTTTCCGCTTTTCCTGATTATTATGGGAAAGCGATCATCT c.1380
R T Q K T D Q F P L F L I I M G K R S S p.460
. . | 15 . . . . g.429842
AATGAAGTGTTGAATGTGATACAAG | GGAACACAACAGTAGATGAGTTAATGATGAGACTC c.1440
N E V L N V I Q G | N T T V D E L M M R L p.480
. . . . . | 16 . g.473469
ATGGCTGCAATGGAGATCTTCACAGCCCAACAACAGGAAGATATAAAGGACGAG | GATGAA c.1500
M A A M E I F T A Q Q Q E D I K D E | D E p.500
. . . . . . g.473529
CGTGAAGCCAGAGAAAATGTGAAGAGAGAGCAAGATGAGGCCTATCGCCTTTCACTTGAG c.1560
R E A R E N V K R E Q D E A Y R L S L E p.520
. | 17 . . . . . g.474644
GCTGACAGAGCAAAG | AGGGAAGCTCACGAGAGAGAGATGGCAGAACAGTTTCGTTTGGAG c.1620
A D R A K | R E A H E R E M A E Q F R L E p.540
. . . | 18 . . . g.489612
CAGATTCGCAAAGAACAAGAAGAGGAACGTGAG | GCCATCCGGCTGTCCTTAGAGCAAGCC c.1680
Q I R K E Q E E E R E | A I R L S L E Q A p.560
. . . . . . g.489672
CTGCCTCCTGAGCCAAAGGAAGAAAATGCTGAGCCTGTGAGCAAACTGCGGATCCGGACC c.1740
L P P E P K E E N A E P V S K L R I R T p.580
. . . . . . g.489732
CCCAGTGGCGAGTTCTTGGAGCGGCGTTTCCTGGCCAGCAACAAGCTCCAGATTGTCTTT c.1800
P S G E F L E R R F L A S N K L Q I V F p.600
. . . . . . g.489792
GATTTTGTAGCTTCCAAAGGATTTCCATGGGATGAGTACAAGTTACTGAGCACCTTTCCT c.1860
D F V A S K G F P W D E Y K L L S T F P p.620
| 19 . . . . . g.523792
AGGAGAGAC | GTAACTCAACTGGACCCAAATAAATCATTATTGGAGGTAAAGTTGTTCCCT c.1920
R R D | V T Q L D P N K S L L E V K L F P p.640
. . . g.523825
CAAGAAACCCTTTTCCTTGAAGCAAAAGAGTAA c.1953
Q E T L F L E A K E X p.650
. . . . . . g.523885
acacggcccagcggtggaaccagccattccttgacaagccagcagcctgcgtcaggagaa c.*60
. . . . . . g.523945
gggctcctcgccaacccacccacacgctcgtctcactcaattcaatgtcacacttctgcc c.*120
. . . . . g.524002
tcttgcaaaattgctggaaaaagtaataataaatatagctacttaagatttcccatc c.*177
(downstream sequence)
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