(used for variant description)
(last modified July 28, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_006346.2 in the PIBF1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000013.10, covering PIBF1 transcript NM_006346.2.
(upstream sequence)
g.5005
ctcac c.-301
. . . . . . g.5065
aacgtgtgttgctttccgctcctcggaacatccgggagagttgacttccggcggcttgtg c.-241
. . . . . . g.5125
ggagtgctggttctgtcctccttgcgggtgcggagatggttgtcttggttacgggtccta c.-181
. . . . . . g.5185
acggtcccctgccttgaaatcccttgttgagggcctgcaaccttgtgcttccgaccggag c.-121
. . . . . . g.5245
acgcctttggtccctcggtgtctgcactggctgctggtcaaggcttcagtgtggagtaat c.-61
. . | 02 . . . . g.6378
tgacactttcgag | aatattaaaatcaaattagagaagaaaactgatccataataataaaa c.-1
. . . . . . g.6438
ATGTCTCGAAAAATTTCAAAGGAGTCAAAAAAAGTGAACATCTCTAGTTCTCTGGAATCT c.60
M S R K I S K E S K K V N I S S S L E S p.20
. . . . . . g.6498
GAAGATATTAGTTTAGAAACAACAGTTCCTACGGATGATATTTCCTCATCAGAAGAGCGA c.120
E D I S L E T T V P T D D I S S S E E R p.40
. . . . . . g.6558
GAGGGCAAAGTCAGAATCACCAGGCAGCTAATTGAACGAAAAGAACTACTTCATAATATT c.180
E G K V R I T R Q L I E R K E L L H N I p.60
. . . . . . g.6618
CAGTTACTAAAAATTGAGCTATCCCAGAAAACTATGATGATCGACAATTTGAAAGTGGAT c.240
Q L L K I E L S Q K T M M I D N L K V D p.80
. | 03 . . . . . g.15403
TATCTTACAAAG | ATTGAAGAATTGGAGGAGAAACTTAATGATGCACTTCACCAGAAGCAG c.300
Y L T K | I E E L E E K L N D A L H Q K Q p.100
. . . . . | 04 . g.18274
CTACTAACATTGAGATTAGACAACCAATTGGCTTTTCAACAGAAAGATGCCAG | CAAATAT c.360
L L T L R L D N Q L A F Q Q K D A S | K Y p.120
. . . . . . g.18334
CAAGAATTAATGAAACAAGAAATGGAAACCATTTTGTTGAGACAGAAACAACTAGAAGAG c.420
Q E L M K Q E M E T I L L R Q K Q L E E p.140
. . . . . . g.18394
ACAAATCTTCAGCTAAGAGAAAAAGCTGGAGATGTTCGTCGAAACCTGCGTGACTTTGAG c.480
T N L Q L R E K A G D V R R N L R D F E p.160
. . . . . . g.18454
TTGACAGAAGAGCAATATATTAAATTAAAAGCTTTTCCTGAAGATCAGCTTTCTATTCCT c.540
L T E E Q Y I K L K A F P E D Q L S I P p.180
. | 05 . . . . . g.20863
GAATATGTATCT | GTTCGCTTCTATGAGCTAGTGAATCCATTAAGAAAGGAAATCTGTGAA c.600
E Y V S | V R F Y E L V N P L R K E I C E p.200
. . . . . . g.20923
CTACAAGTGAAAAAGAATATCCTAGCAGAAGAATTAAGTACAAACAAAAACCAACTGAAG c.660
L Q V K K N I L A E E L S T N K N Q L K p.220
. | 06 . . . . . g.44805
CAGCTGACAGAG | ACATATGAGGAAGATCGAAAAAACTACTCTGAAGTTCAAATTAGATGT c.720
Q L T E | T Y E E D R K N Y S E V Q I R C p.240
. . . . . . g.44865
CAACGTTTGGCCTTAGAATTAGCAGACACAAAACAGTTAATTCAGCAAGGTGACTACCGT c.780
Q R L A L E L A D T K Q L I Q Q G D Y R p.260
. . | 07 . . . . g.49952
CAAGAGAACTATGATAAAGTCAAGAG | TGAACGTGATGCACTTGAACAGGAAGTAATTGAG c.840
Q E N Y D K V K S | E R D A L E Q E V I E p.280
. . . . . . g.50012
CTTAGGAGAAAACATGAAATACTTGAAGCCTCTCACATGATTCAAACAAAAGAACGAAGT c.900
L R R K H E I L E A S H M I Q T K E R S p.300
. | 08 . . . . . g.50686
GAATTATCAAAAGAG | GTAGTCACCTTAGAGCAAACTGTTACTTTACTGCAAAAGGATAAA c.960
E L S K E | V V T L E Q T V T L L Q K D K p.320
. . . . . . g.50746
GAATATCTTAATCGCCAAAACATGGAGCTTAGTGTTCGCTGTGCTCATGAAGAGGATCGC c.1020
E Y L N R Q N M E L S V R C A H E E D R p.340
. . . . . . g.50806
CTTGAAAGACTTCAAGCTCAACTGGAAGAAAGCAAAAAGGCTAGAGAAGAGATGTATGAA c.1080
L E R L Q A Q L E E S K K A R E E M Y E p.360
. | 09. . . . . g.58194
AAATATGTAGCATCCAG | AGACCATTATAAAACAGAATATGAAAATAAACTACATGATGAA c.1140
K Y V A S R | D H Y K T E Y E N K L H D E p.380
. . . . . . g.58254
CTAGAACAAATCAGATTGAAAACCAACCAAGAAATTGATCAACTTCGAAATGCCTCTAGG c.1200
L E Q I R L K T N Q E I D Q L R N A S R p.400
. . | 10 . . . . g.77002
GAAATGTATGAACGAGAAAACAG | AAATCTCCGAGAAGCAAGGGATAATGCTGTGGCTGAA c.1260
E M Y E R E N R | N L R E A R D N A V A E p.420
. . . . . . g.77062
AAGGAACGAGCAGTGATGGCTGAAAAGGATGCTTTAGAAAAACACGATCAGCTCTTAGAC c.1320
K E R A V M A E K D A L E K H D Q L L D p.440
| 11 . . . . . . g.116750
AG | GTACAGAGAACTACAACTTAGTACAGAAAGCAAAGTAACAGAATTTCTCCATCAAAGT c.1380
R | Y R E L Q L S T E S K V T E F L H Q S p.460
. . . . . . g.116810
AAATTAAAATCTTTTGAAAGTGAGCGTGTTCAACTTCTGCAAGAGGAAACAGCAAGAAAT c.1440
K L K S F E S E R V Q L L Q E E T A R N p.480
. . . . | 12 . g.131451
CTCACACAGTGTCAATTGGAATGTGAAAAATATCAGAAAAAATTGGAG | GTTTTAACCAAA c.1500
L T Q C Q L E C E K Y Q K K L E | V L T K p.500
. . . . . . g.131511
GAATTTTATAGTCTCCAAGCCTCTTCTGAAAAACGCATTACTGAACTTCAAGCACAGAAC c.1560
E F Y S L Q A S S E K R I T E L Q A Q N p.520
. . . . . . g.131571
TCAGAGCATCAAGCAAGGCTAGACATTTATGAGAAACTGGAAAAAGAGCTTGATGAAATA c.1620
S E H Q A R L D I Y E K L E K E L D E I p.540
. | 13 . . . . g.140025
ATAATGCAAACTGCAGAAA | TTGAAAATGAAGATGAGGCTGAAAGGGTTCTTTTTTCCTAC c.1680
I M Q T A E I | E N E D E A E R V L F S Y p.560
. . . . . | 14 . g.154083
GGCTATGGTGCTAATGTTCCCACAACAGCCAAAAGACGACTAAAGCAAAG | TGTTCACTTG c.1740
G Y G A N V P T T A K R R L K Q S | V H L p.580
. . . . . . g.154143
GCAAGAAGAGTGCTTCAATTAGAAAAACAAAACTCGCTGATTTTAAAAGATCTGGAACAT c.1800
A R R V L Q L E K Q N S L I L K D L E H p.600
. . . | 15 . . . g.188209
CGAAAGGACCAAGTAACACAGCTTTCACAAGAG | CTTGACAGAGCCAATTCGCTATTAAAC c.1860
R K D Q V T Q L S Q E | L D R A N S L L N p.620
. . . . . . g.188269
CAGACTCAACAGCCTTACAGGTATCTCATTGAATCAGTGCGTCAGAGAGATTCTAAGATT c.1920
Q T Q Q P Y R Y L I E S V R Q R D S K I p.640
. . . . | 16 . . g.196515
GATTCACTGACGGAATCTATTGCACAACTTGAGAAAGATGTCAG | CAACTTAAATAAAGAA c.1980
D S L T E S I A Q L E K D V S | N L N K E p.660
. . . . . . g.196575
AAGTCAGCTTTACTACAGACGAAGAATCAAATGGCATTAGATTTAGAACAACTTCTAAAT c.2040
K S A L L Q T K N Q M A L D L E Q L L N p.680
| 17 . . . . . g.221781
CATCGTGAG | GAATTGGCAGCAATGAAACAGATTCTCGTTAAGATGCATAGTAAACATTCT c.2100
H R E | E L A A M K Q I L V K M H S K H S p.700
. . . . . . g.221841
GAGAACAGCTTACTTCTCACTAAAACAGAACCAAAACATGTGACAGAAAATCAGAAATCA c.2160
E N S L L L T K T E P K H V T E N Q K S p.720
. . . . . . g.221901
AAGACTTTGAATGTGCCTAAAGAGCATGAAGACAATATATTTACACCTAAACCAACACTC c.2220
K T L N V P K E H E D N I F T P K P T L p.740
| 18 . . . . . g.238834
TTT | ACTAAAAAAGAAGCACCTGAGTGGTCTAAGAAACAAAAGATGAAGACCTAG c.2274
F | T K K E A P E W S K K Q K M K T X p.757
. . . . . . g.238894
tgttttggatgggaagcacctgtagaccattatatactcctgaagttctttttctgatgg c.*60
. . . . . . g.238954
aaaacaaaattcagcttaatcgtgtactcagcattttttaaataacaatgtttatttgaa c.*120
. . . . . . g.239014
ctaatattaaattaacaaattcagtgtaatcaaaatgtgtaaagaacaatcaatatactt c.*180
. . . . . . g.239074
tatttttttttctattttataaaataaatatatatgctatgctttaaattttggagcttt c.*240
. . . . . . g.239134
cataaatgttcaatgcattttaagtgtgtggcttataaatattttggtatttttctatac c.*300
. . . . . . g.239194
tacgtaaattctgagtttaaatgtcatacacaaatactaagacactttgcatttttaaaa c.*360
. . . . . . g.239254
attaagaatcatttgtgaagtccactacgaggtacttcaaaagcccagtaatggtggtca c.*420
. . . . . . g.239314
gataccatgtagatggatacagattgttgactcttttgaagttgtttttttcttatattt c.*480
. . . . . g.239369
tatattaccattaaccaataaaatctggcagaaagtctgctattccattggtaaa c.*535
(downstream sequence)
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