(used for variant description)
(last modified August 5, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_003622.3 in the PPFIBP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering PPFIBP1 transcript NM_003622.3.
(upstream sequence)
. g.5017
gattcctgcagggaggg c.-361
. . . . . . g.5077
aggagagaagggcggcagtgggagggggaggtacctggaactgggagtgatgtcagctcc c.-301
. . . . . . g.5137
cagctcggtgcctgcccggattcctgacatggtgtagtgcaggcagggtggggaaaggac c.-241
. . . . . . g.5197
ggggaaggactcgtgtgctgcgagctggcggccgggccggagtgctggggctttgaactc c.-181
. . . . . . | 02 g.59043
cgagaggaggtggaccagaacttttggaactagtgccggcggctctccaccccccag | tat c.-121
. . . . . . g.59103
aaaagaacgtgtggatcactttgctgagtacatccaagatttgaagaactgaaataaatc c.-61
. . . | 03 . . . g.114285
agctttaaacctgctttttaaaaat | atctgggttggaatttgcccctgacaaataataaa c.-1
. . . . . . g.114345
ATGATGAGTGATGCAAGTGACATGTTGGCTGCAGCGTTGGAGCAGATGGATGGTATCATA c.60
M M S D A S D M L A A A L E Q M D G I I p.20
| 04 . . . . . . g.115854
GCAG | GTTCTAAGGCTCTGGAATATTCCAATGGGATTTTTGATTGCCAATCTCCCACCTCT c.120
A G | S K A L E Y S N G I F D C Q S P T S p.40
. . . . . . g.115914
CCATTCATGGGAAGTTTGCGAGCTCTGCACCTTGTGGAAGACCTGCGTGGATTGTTAGAG c.180
P F M G S L R A L H L V E D L R G L L E p.60
. . . . . . g.115974
ATGATGGAAACAGATGAGAAAGAAGGCTTGAGATGCCAGATCCCAGATTCAACAGCAGAA c.240
M M E T D E K E G L R C Q I P D S T A E p.80
. . . | 05 . . . g.126980
ACGCTTGTTGAATGGCTTCAGAGTCAAATG | ACAAATGGACACCTACCAGGGAACGGAGAT c.300
T L V E W L Q S Q M | T N G H L P G N G D p.100
. . . . . | 06. g.128620
GTGTATCAAGAAAGGCTGGCACGTTTAGAAAATGATAAAGAATCCCTCGTTCTTCAG | GTA c.360
V Y Q E R L A R L E N D K E S L V L Q | V p.120
. . . . . . g.128680
AGTGTGTTAACAGACCAGGTGGAGGCTCAGGGAGAGAAGATTCGAGATTTGGAGTTTTGT c.420
S V L T D Q V E A Q G E K I R D L E F C p.140
. . . . . | 07 . g.130907
CTTGAAGAGCACAGAGAGAAGGTGAATGCCACAGAAGAAATGCTGCAGCAG | GAGCTTCTA c.480
L E E H R E K V N A T E E M L Q Q | E L L p.160
. . . . . . g.130967
AGTAGGACATCCTTAGAAACTCAGAAGTTGGATCTGATGGCTGAAATATCTAACTTGAAG c.540
S R T S L E T Q K L D L M A E I S N L K p.180
. . . . . . g.131027
TTGAAACTGACAGCTGTAGAGAAGGACAGATTGGATTATGAAGATAAGTTCAGAGACACA c.600
L K L T A V E K D R L D Y E D K F R D T p.200
| 08 . . . . . . g.135667
GAG | GGGCTGATTCAGGAGATCAATGATTTGAGGTTAAAAGTTAGTGAAATGGACAGTGAG c.660
E | G L I Q E I N D L R L K V S E M D S E p.220
. . . | 09 . . . g.137528
AGACTTCAGTATGAAAAAAAGCTTAAATCAACCAAA | GATGAACTGGCATCTTTAAAAGAA c.720
R L Q Y E K K L K S T K | D E L A S L K E p.240
. . . . . . g.137588
CAACTAGAAGAAAAGGAATCTGAAGTAAAAAGGCTACAAGAAAAATTGGTTTGCAAGATG c.780
Q L E E K E S E V K R L Q E K L V C K M p.260
. . . | 10 . . . g.139733
AAAGGAGAAGGGGTTGAAATTGTTGATAGAG | ATGAAAATTTTAAAAAGAAGCTCAAAGAA c.840
K G E G V E I V D R D | E N F K K K L K E p.280
| 11 . . . . . . g.141828
AAAA | ACATCGAAGTACAAAAAATGAAAAAAGCTGTGGAGTCCTTGATGGCAGCAAATGAA c.900
K N | I E V Q K M K K A V E S L M A A N E p.300
| 12 . . . . . . g.145304
GAAAAG | GATCGGAAAATAGAAGATCTTCGACAGTGCCTGAACAGGTACAAGAAAATGCAA c.960
E K | D R K I E D L R Q C L N R Y K K M Q p.320
. . . | 13 . . . g.148083
GACACGGTGGTACTGGCCCAAGGTAAAAAAG | GCAAAGATGGAGAATATGAAGAGCTGCTC c.1020
D T V V L A Q G K K G | K D G E Y E E L L p.340
. . . . . . g.148143
AATTCCAGTTCCATCTCCTCTTTGCTGGATGCACAGGGTTTCAGTGATCTGGAGAAAAGT c.1080
N S S S I S S L L D A Q G F S D L E K S p.360
. . . . . . g.148203
CCATCACCCACTCCAGTAATGGGATCTCCCAGTTGTGACCCATTTAACACAAGTGTTCCC c.1140
P S P T P V M G S P S C D P F N T S V P p.380
| 14 . . . . . . g.152373
GAAGAG | TTCCATACTACCATCTTGCAAGTTTCCATCCCTTCATTATTGCCAGCAACTGTA c.1200
E E | F H T T I L Q V S I P S L L P A T V p.400
. . . . . . g.152433
AGCATGGAAACTTCTGAAAAATCAAAGTTGACTCCTAAGCCAGAGACTTCATTTGAAGAA c.1260
S M E T S E K S K L T P K P E T S F E E p.420
| 15 . . . . . | 16 g.154656
AA | TGATGGAAACATAATCCTTGGTGCCACTGTTGATACCCAACTGTGTGATAAACTTTT | A c.1320
N | D G N I I L G A T V D T Q L C D K L L | p.440
. . . . . . g.154716
ACTTCAAGTCTGCAGAAGTCCAGCAGCCTGGGCAATCTGAAGAAAGAGACATCTGATGGG c.1380
T S S L Q K S S S L G N L K K E T S D G p.460
| 17 . . . | 18 . . . g.157346
| GAAAAGGAAACTATTCAGAAGACTTCAGAG | GACAGAGCTCCGGCAGAAAGCAGGCCATTT c.1440
| E K E T I Q K T S E | D R A P A E S R P F p.480
. . . . . . g.157406
GGGACCCTTCCTCCCAGGCCCCCAGGGCAGGACACCTCCATGGATGACAACCCCTTCGGC c.1500
G T L P P R P P G Q D T S M D D N P F G p.500
. . . . . . g.157466
ACTCGAAAAGTCAGATCTTCCTTTGGCCGGGGCTTTTTTAAAATCAAAAGTAACAAGAGA c.1560
T R K V R S S F G R G F F K I K S N K R p.520
. . | 19 . . . | 20 . g.160382
ACAGCAAGTGCACCAAACTTAG | ATCGTAAACGAAGTGCCAGTGCACCCACCCTAG | CTGAA c.1620
T A S A P N L D | R K R S A S A P T L A | E p.540
. . . . . . g.160442
ACAGAAAAAGAGACAGCAGAGCACCTAGATCTGGCTGGTGCTTCTTCTCGGCCAAAAGAT c.1680
T E K E T A E H L D L A G A S S R P K D p.560
. . . . . . g.160502
TCACAGAGGAACAGTCCCTTCCAGATACCGCCTCCATCTCCAGATTCCAAAAAGAAATCC c.1740
S Q R N S P F Q I P P P S P D S K K K S p.580
. . | 21 . . . . g.160855
AGAGGTATCATGAAACTCTTTGGAAA | ACTTAGGAGAAGTCAATCAACTACATTCAACCCA c.1800
R G I M K L F G K | L R R S Q S T T F N P p.600
. . . . . . g.160915
GATGACATGTCTGAGCCTGAATTCAAAAGAGGAGGGACAAGGGCAACCGCGGGGCCCCGA c.1860
D D M S E P E F K R G G T R A T A G P R p.620
. . . | 22 . . . g.162459
TTAGGTTGGTCTCGAGACTTGGGACAGTCTAACAG | TGACTTGGATATGCCATTTGCCAAG c.1920
L G W S R D L G Q S N S | D L D M P F A K p.640
. . . . . . g.162519
TGGACCAAGGAGCAGGTTTGCAATTGGCTGATGGAACAGGGCTTGGGCTCGTACCTGAAT c.1980
W T K E Q V C N W L M E Q G L G S Y L N p.660
. . . . . . g.162579
TCTGGCAAGCACTGGATTGCATCTGGCCAAACGCTTTTGCAGGCTTCTCAACAAGATCTA c.2040
S G K H W I A S G Q T L L Q A S Q Q D L p.680
| 23 . . . . . . g.163329
GAGAAG | GAACTTGGAATCAAGCATTCACTTCATCGAAAGAAACTCCAGCTAGCACTCCAA c.2100
E K | E L G I K H S L H R K K L Q L A L Q p.700
. . . . . | 24 g.163505
GCCCTGGGATCTGAAGAAGAAACCAATCATGGGAAGCTGGATTTCAACTGGGTCACTA | GA c.2160
A L G S E E E T N H G K L D F N W V T R | p.720
. . . . . . g.163565
TGGTTGGATGACATTGGCCTCCCTCAATATAAGACCCAGTTTGATGAAGGACGGGTTGAT c.2220
W L D D I G L P Q Y K T Q F D E G R V D p.740
. . | 25. . . . g.168306
GGTCGAATGCTACATTACATGACTGTT | GATGACTTACTGTCTCTGAAGGTTGTAAGTGTG c.2280
G R M L H Y M T V | D D L L S L K V V S V p.760
. . . . . . g.168366
CTACACCATCTCAGTATCAAAAGGGCCATCCAGGTCCTGAGGATCAATAACTTTGAACCA c.2340
L H H L S I K R A I Q V L R I N N F E P p.780
. . . | 26 . . . g.169216
AACTGTCTACGGAGGCGGCCATCTGATGAG | AATACCATCGCCCCATCAGAAGTTCAGAAG c.2400
N C L R R R P S D E | N T I A P S E V Q K p.800
. . . . . . g.169276
TGGACTAACCATCGAGTGATGGAGTGGCTGCGCTCCGTGGACTTGGCAGAATATGCGCCC c.2460
W T N H R V M E W L R S V D L A E Y A P p.820
. . . | 27 . . . g.169927
AATCTCAGAGGCAGTGGTGTCCATGGTGGGCTCATG | GTTCTAGAGCCTCGTTTTAACGTA c.2520
N L R G S G V H G G L M | V L E P R F N V p.840
. . . . . . g.169987
GAAACAATGGCTCAGTTATTGAACATCCCACCCAATAAGACTTTGCTGCGAAGACATTTG c.2580
E T M A Q L L N I P P N K T L L R R H L p.860
. . . . . . g.170047
GCCACTCATTTCAACCTTCTGATTGGGGCTGAGGCACAGCACCAGAAGCGAGATGCCATG c.2640
A T H F N L L I G A E A Q H Q K R D A M p.880
. . . . | 28 . . g.172652
GAGCTGCCGGATTATGTACTTCTAACAGCTACTGCCAAAGTGAAG | CCAAAGAAACTTGCC c.2700
E L P D Y V L L T A T A K V K | P K K L A p.900
. . . . . . g.172712
TTTAGCAATTTTGGGAATTTGAGAAAGAAGAAACAGGAAGATGGTGAAGAATATGTTTGT c.2760
F S N F G N L R K K K Q E D G E E Y V C p.920
. . . . . . g.172772
CCAATGGAATTGGGACAGGCATCAGGAAGTGCATCTAAGAAAGGATTTAAACCTGGTTTG c.2820
P M E L G Q A S G S A S K K G F K P G L p.940
. . . . | 29 . . g.173494
GATATGCGCCTGTATGAGGAAGATGATTTGGACCGGTTAGAGCAG | ATGGAAGATTCAGAA c.2880
D M R L Y E E D D L D R L E Q | M E D S E p.960
. . . . . | 30 . g.173693
GGGACAGTGAGACAGATAGGTGCATTCTCTGAAGGCATCAACAATCTGACG | CACATGTTA c.2940
G T V R Q I G A F S E G I N N L T | H M L p.980
. . . . . . g.173753
AAAGAAGATGACATGTTTAAAGATTTTGCTGCCCGTTCCCCCAGTGCCAGCATTACAGAT c.3000
K E D D M F K D F A A R S P S A S I T D p.1000
. g.173771
GAAGACTCAAACGTTTGA c.3018
E D S N V X p.1005
. . . . . . g.173831
ccgtagcacctggatgaacattaggagtgcttagtcttttttctacttgcttttccaaac c.*60
. . . . . . g.173891
actcacagtatatacaacaggcagcggattgtctattgtttgttgttccaacttctgctg c.*120
. . . . . . g.173951
tcgagaagtttaaacagaaagcaggagtaatgtgccgattctgaagttgccacaaaaaat c.*180
. . . . . . g.174011
aagacactggtgaatgagagtataattgtttttcttctatttaatgtaaaaatctgtgat c.*240
. . . . . . g.174071
atattatatttaaagtgttgcatttaagatgagtattttaccagagtgtttccattcata c.*300
. . . . . . g.174131
tccgcggtatggaggatttgaggaacagtaaccaggatgtgaatgattttgttacatcag c.*360
. . . . . . g.174191
tgttcactgtagccacctaagtaggacattatatgatttcagaatcaatatgtggaactt c.*420
. . . . . . g.174251
ctttaagcattcagtgtgcccactaaatgccagccacacctccacttgcctcttattgtc c.*480
. . . . . . g.174311
ttatttttatatatttttctaaatatatgtatatatacagtacatagaaaatagaacttt c.*540
. . . . . . g.174371
tattttgtgacctaaggacgatggtgaaaagatcacgttttcaaaacaatctggtgatca c.*600
. . . . . . g.174431
gaatgttcatataccagctggtttctgaagaggtcagaatgatctttctccatactgact c.*660
. . . . . . g.174491
tttaacaatgttgatcattgaggctaaattaatatatatgaaatattcctttttgatgac c.*720
. . . . . . g.174551
accacaaaattgttgaacagtttaagaatttcaaccttaatcttggatccctttacctca c.*780
. . . . . . g.174611
tatggaagaacttgagggacattagtatacttttttttaagatggagtcttgctctgtca c.*840
. . . . . . g.174671
cccaggttggagtgccatggcatgatcttggctcactgcaacctccacctcctgggtcaa c.*900
. . . . . . g.174731
gccattctgcttcagccccaagtaggtgggactccaggcatgcaccaccatgcctggcta c.*960
. . . . . . g.174791
atttttgcatttttagtagagacagggtttcaccatattggccaggctgggactcgaact c.*1020
. . . . . . g.174851
cctgaccttgtgatctgcccgcctcagcctcccaaagtactgggattataggcatgagcc c.*1080
. . . . . . g.174911
accacgcccagcctgttatttttttattattattgtttttttttagtgacagagtctcat c.*1140
. . . . . . g.174971
tctgttgcccatgctggagtgcagtggcgtgatcatagctcactgcagccttgaattcct c.*1200
. . . . . . g.175031
aggctccagtgatcctctcacctcagcttccctaatagctaggattacaggtgtgtggcc c.*1260
. . . . . . g.175091
tcccaccccaccccacccttcacacctggctgatttttcaaaaagtttttttgtagaaac c.*1320
. . . . . . g.175151
agggtctcaccatgttgtccagcctggtctcaaactcctgtcctcaagtgatcctcccac c.*1380
. . . . . . g.175211
ctcagcctttcaaagtgctggaattacaggtgtgagccactctgcctggcctaccactaa c.*1440
. . . . . . g.175271
cttgaatacattcagaatcacctcctctccccaaaatttgtagaaatagtttttgaggaa c.*1500
. . . . . . g.175331
gccaaaagcaaagcagaaacctttacagtattgtttcttttctctttgttaactgtgtca c.*1560
. . . . . . g.175391
ttacagcaaaatactagcagtctgcctaaacatgttcattgtacatttctcaggctatca c.*1620
. . . . . . g.175451
atgaatggaggtttttaaaaagttgaatatttgtctgaacattttatttcaaagttcaaa c.*1680
. . . . . . g.175511
aaaacagaggctgcaaaattcattttataatggctattttgtgacgataagatgtagttc c.*1740
. . . . . . g.175571
atgtttttctgtagcactgggcccaaatattctttgtaaagaaaatcgctgcagcaaaaa c.*1800
. . . . . . g.175631
ctgttactgtgtttattatatttgtagaagtattagaaaaatattctattttttattcag c.*1860
. . . . . . g.175691
tgctgcgtaattacccatggtagccaaccctacaaaagacaggttttcacaaattgaggt c.*1920
. . . . . . g.175751
ggaggtgggcggttcagtatctgccactggacttgattataaactgtatttgaatatcag c.*1980
. . . . . . g.175811
tggtattatcttttaagttgtcagcaagttaccaaggtattcattaaagaacttgtaata c.*2040
. . . . . . g.175871
tcaaattactatttattcataacaattgatttgatgctaataataattttctttaaactc c.*2100
. . . . . . g.175931
taccattcattatgtggtaactgtattgaacttactttatttggattttattttaatgtg c.*2160
. . . . . . g.175991
actagatgtcaccacttcaaaaaatcaatttgttcttagaacctggttgaaaataccagg c.*2220
. . . . . . g.176051
aaactgttacagacgccattttttttttttttgagacggagtcttgctctgttgcccagg c.*2280
. . . . . . g.176111
ctggagtgcagtggcacaatctcagctcactgcaagctccgcctcctgggttcacgccat c.*2340
. . . . . . g.176171
tctcccacctcagcttcccaagcagctgggactacaggtacctgccaccacgcctggcta c.*2400
. . . . . . g.176231
attttgtttttgtatttttagtagagacggggtttcaccgtgttagccaggaaggtctca c.*2460
. . . . . . g.176291
atctcctgacctcgtgaatcgcccccctcggtctcccaaagtgctgggattacaggcgtg c.*2520
. . . . . . g.176351
agccaccatgcccggcccaaatattttttattcaggatggtataacctaactgataatag c.*2580
. . . . . . g.176411
gtaataaggttaaatttttttatgacgtattttatttacaaatatcatacactgctggtg c.*2640
. . . . g.176453
ttaccatatgaaaggaaataaagtcaattgataattgcctca c.*2682
(downstream sequence)
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