(used for variant description)
(last modified July 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001142633.2 in the PIK3R5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_030374.1, covering PIK3R5 transcript NM_001142633.2.
(upstream sequence)
. g.5010
tgggcagatg c.-121
. . . . . . g.5070
ctgcggctcgccgcgcggctccagctggggcgcggtggtcccgacggtcacccgaatcgc c.-61
. . . . . | 02 . g.59218
agggagtcgccgctggagaggggctcggcgcccggcggggactgcag | gcgatgacccagg c.-1
. . . . . . g.59278
ATGCAGCCAGGGGCCACGACATGCACGGAGGACCGCATCCAGCATGCCCTGGAACGCTGC c.60
M Q P G A T T C T E D R I Q H A L E R C p.20
. . . . | 03 . . g.61555
CTGCATGGACTCAGCCTCAGCCGCCGCTCCACCTCCTGGTCAG | CTGGGCTGTGTCTGAAC c.120
L H G L S L S R R S T S W S A | G L C L N p.40
. . . . . . g.61615
TGCTGGAGCCTGCAGGAGCTGGTCAGCAGGGACCCGGGCCACTTCCTTATCCTCCTTGAG c.180
C W S L Q E L V S R D P G H F L I L L E p.60
. . | 04 . . . . g.65011
CAGATCCTGCAGAAGACCCGAGAG | GTCCAGGAGAAGGGCACCTACGACCTGCTCACCCCG c.240
Q I L Q K T R E | V Q E K G T Y D L L T P p.80
. . . | 05 . . . g.65824
CTGGCCCTGCTCTTCTATTCCACTGTTCTTTGT | ACACCACACTTCCCACCAGACTCGGAT c.300
L A L L F Y S T V L C | T P H F P P D S D p.100
. . . . . . g.65884
CTCCTTCTGAAGGCAGCCAGCACCTACCACCGGTTCCTGACCTGGCCTGTTCCTTACTGC c.360
L L L K A A S T Y H R F L T W P V P Y C p.120
. . . . . | 06 . g.77065
AGCATCTGCCAGGAGCTGCTCACCTTCATTGATGCTGAACTCAAGGCCCCAG | GGATCTCC c.420
S I C Q E L L T F I D A E L K A P G | I S p.140
. . . . . . g.77125
TACCAGAGACTGGTGAGGGCTGAGCAGGGCCTGCCCATCAGGAGTCACCGCAGCTCCACC c.480
Y Q R L V R A E Q G L P I R S H R S S T p.160
| 07 . . . . . . g.79858
GT | CACCGTGCTGCTGCTGAACCCAGTGGAAGTGCAGGCCGAGTTCCTTGCTGTAGCCAAT c.540
V | T V L L L N P V E V Q A E F L A V A N p.180
. . . . . . g.79918
AAGCTGAGTACGCCCGGACACTCGCCTCACAGTGCCTACACCACCCTGCTCCTGCACGCC c.600
K L S T P G H S P H S A Y T T L L L H A p.200
. . . . . | 08. g.80589
TTCCAGGCCACCTTTGGGGCCCACTGTGACGTCCCGGGCCTGCACTGCAGGCTACAG | GCC c.660
F Q A T F G A H C D V P G L H C R L Q | A p.220
. . . . . . g.80649
AAGACCCTGGCAGAGCTTGAGGACATCTTCACGGAGACCGCAGAGGCACAGGAGCTGGCA c.720
K T L A E L E D I F T E T A E A Q E L A p.240
. . . . . . g.80709
TCTGGCATCGGGGATGCTGCAGAGGCCCGGCGGTGGCTCAGGACCAAGCTGCAGGCGGTG c.780
S G I G D A A E A R R W L R T K L Q A V p.260
. . . | 09 . . . g.81519
GGAGAAAAAGCTGGCTTCCCTGGGGTGTTAG | ACACTGCAAAACCAGGGAAGCTCCACACC c.840
G E K A G F P G V L D | T A K P G K L H T p.280
. . . . . | 10 . g.81826
ATCCCCATCCCTGTCGCCAGGTGCTACACCTACAGCTGGAGCCAGGACAGCTTTG | ACATC c.900
I P I P V A R C Y T Y S W S Q D S F D | I p.300
. . . . . . g.81886
CTGCAGGAAATCCTGCTCAAGGAACAGGAGCTACTCCAGCCAGGGATCCTGGGAGATGAT c.960
L Q E I L L K E Q E L L Q P G I L G D D p.320
. . . . . . g.81946
GAAGAGGAGGAAGAGGAGGAGGAGGAGGTGGAGGAGGACTTGGAAACTGACGGGCACTGT c.1020
E E E E E E E E E V E E D L E T D G H C p.340
. . . . . . g.82006
GCCGAGAGAGATTCCCTGCTCTCCACCAGCTCTTTGGCGTCCCATGACTCCACCTTGTCC c.1080
A E R D S L L S T S S L A S H D S T L S p.360
. . . . . . g.82066
CTTGCATCCTCCCAGGCCTCGGGGCCGGCCCTCTCGCGCCATCTGCTGACTTCCTTTGTC c.1140
L A S S Q A S G P A L S R H L L T S F V p.380
. . . . . . g.82126
TCAGGCCTCTCTGATGGCATGGACAGCGGCTACGTGGAGGACAGCGAGGAGAGCTCCTCC c.1200
S G L S D G M D S G Y V E D S E E S S S p.400
. . . . . . g.82186
GAGTGGCCTTGGAGGCGTGGCAGCCAGGAACGCCGAGGCCACCGCAGGCCTGGGCAGAAG c.1260
E W P W R R G S Q E R R G H R R P G Q K p.420
. . . . . . g.82246
TTCATCAGGATCTATAAACTCTTCAAGAGCACCAGCCAGCTGGTACTGCGGAGGGACTCT c.1320
F I R I Y K L F K S T S Q L V L R R D S p.440
. . . . . . g.82306
CGGAGCCTGGAGGGCAGCTCGGACACGGCCCTGCCCCTGAGGCGGGCAGGGAGCCTCTGC c.1380
R S L E G S S D T A L P L R R A G S L C p.460
. . . . . . g.82366
AGCCCCCTGGACGAACCAGTATCACCCCCTTCCCGGGCCCAGCGCTCCCGCTCCCTGCCC c.1440
S P L D E P V S P P S R A Q R S R S L P p.480
. . . . . . g.82426
CAGCCCAAACTCGGTACCCAGCTGCCCAGCTGGCTTCTGGCCCCTGCTTCACGCCCCCAG c.1500
Q P K L G T Q L P S W L L A P A S R P Q p.500
. . . . . . g.82486
CGCCGCCGCCCCTTCCTGAGTGGAGATGAGGATCCCAAGGCTTCCACGCTACGTGTTGTG c.1560
R R R P F L S G D E D P K A S T L R V V p.520
. . . . . | 11 . g.83033
GTCTTTGGCTCCGATCGGATTTCAGGGAAGGTGGCTCGGGCGTACAGCAACCTTCG | GCGG c.1620
V F G S D R I S G K V A R A Y S N L R | R p.540
. . . . . . g.83093
CTGGAGAACAATCGCCCACTCCTCACACGGTTCTTCAAACTTCAGTTCTTCTACGTGCCT c.1680
L E N N R P L L T R F F K L Q F F Y V P p.560
. . . . . . g.83153
GTGAAGCGAAGTCATGGGACCAGCCCTGGTGCCTGTCCACCCCCTCGGAGCCAGACGCCC c.1740
V K R S H G T S P G A C P P P R S Q T P p.580
. . . | 12 . . g.83512
TCACCCCCGACAGACTCCCCTAGGCACGCCAGCCCTGGA | GAGCTGGGCACCACCCCATGG c.1800
S P P T D S P R H A S P G | E L G T T P W p.600
. . . . . . g.83572
GAGGAGAGCACCAATGACATCTCCCACTACCTCGGCATGCTGGACCCCTGGTATGAGCGC c.1860
E E S T N D I S H Y L G M L D P W Y E R p.620
. . . . | 13 . . g.84122
AATGTACTGGGCCTCATGCACCTGCCCCCTGAAGTCCTGTGCCAG | CAGTCCCTGAAGGCT c.1920
N V L G L M H L P P E V L C Q | Q S L K A p.640
. . . . . . g.84182
GAAGCCCAGGCCCTGGAGGGCTCCCCAACCCAGCTGCCCATCCTGGCTGACATGCTACTC c.1980
E A Q A L E G S P T Q L P I L A D M L L p.660
. . . . . | 14 . g.84396
TACTACTGCCGCTTTGCCGCCAGACCGGTGCTGCTGCAAGTCTATCAGACCGAG | CTGACC c.2040
Y Y C R F A A R P V L L Q V Y Q T E | L T p.680
. . . . . . g.84456
TTCATCACTGGGGAGAAGACGACAGAGATCTTCATCCACTCCTTGGAGCTGGGTCACTCC c.2100
F I T G E K T T E I F I H S L E L G H S p.700
. . | 15 . . . g.85961
GCTGCCACACGTGCCATCAAGGCGTCAG | GTCCTGGCAGCAAGCGGCTGGGCATCGATGGC c.2160
A A T R A I K A S G | P G S K R L G I D G p.720
. . . . | 16 . . g.88846
GACCGGGAGGCTGTTCCTCTAACACTACAGATTATTTACAGCAAG | GGGGCCATCAGTGGA c.2220
D R E A V P L T L Q I I Y S K | G A I S G p.740
. . . . . . g.88906
CGAAGTCGCTGGAGCAACCTGGAGAAGGTCTGTACCTCCGTGAACCTCAACAAGGCCTGC c.2280
R S R W S N L E K V C T S V N L N K A C p.760
. | 17 . . . . g.89041
CGGAAGCAGGAGGAGCTGG | ATTCCAGCATGGAGGCCCTGACGCTAAACCTGACAGAAGTG c.2340
R K Q E E L D | S S M E A L T L N L T E V p.780
. . . . | 18 . . g.89713
GTGAAAAGGCAGAACTCCAAATCCAAGAAGGGCTTTAACCAG | ATTAGCACATCGCAGATC c.2400
V K R Q N S K S K K G F N Q | I S T S Q I p.800
. . . . . . g.89773
AAAGTGGACAAGGTGCAGATCATCGGCTCCAACAGCTGCCCCTTTGCTGTGTGCCTGGAC c.2460
K V D K V Q I I G S N S C P F A V C L D p.820
. . . | 19 . . . g.89951
CAGGATGAGAGAAAGATCCTGCAGAGTGTAGTCAG | ATGTGAGGTCTCACCGTGCTACAAG c.2520
Q D E R K I L Q S V V R | C E V S P C Y K p.840
. . . . . . g.90011
CCAGAGAAGAGCGACCTCTCCTCACCACCCCAGACGCCTCCTGACCTGCCGGCCCAGGCC c.2580
P E K S D L S S P P Q T P P D L P A Q A p.860
. . . . . . g.90071
GCACCTGATCTCTGCTCCCTTCTCTGCCTGCCCATCATGACTTTCAGTGGAGCTCTGCCC c.2640
A P D L C S L L C L P I M T F S G A L P p.880
g.90074
TAG c.2643
X p.880
. . . . . . g.90134
tgtgggcccagcgccagactggacagaagccctggggcaacctcctcggccacccctcca c.*60
. . . . . . g.90194
ggacagtccctctctgtggagaactgaatggccctgtgcagagccatagtcccactgtgg c.*120
. . . . . . g.90254
gtcctgcaatgagcaggggctgggagtagagggtttctggggcctcagggttctgggaaa c.*180
. . . . . . g.90314
gcaacagctatcagagagagaagggccagaccccatagcctcttagattcctggcagtag c.*240
. . . . . . g.90374
aaggagaaggatgggtaaattgacctctgaagtccctgaccattagcatggtctaggatc c.*300
. . . . . . g.90434
ctttctagaaggaagatctgaggctctggtgctcagggggatggcttgggccttttctct c.*360
. . . . . . g.90494
caaccttggctgagcctaccccttactttgccaaagacttgaggaccctgtatgtctgga c.*420
. . . . . . g.90554
gttcagtcccctcctctgtggggctcaggtgattgaaatgtggatgaaacatttctctac c.*480
. . . . . . g.90614
ttcaagaccacctctccctgcaaacaccacacacacatggcatgcatgtacgcacatgcg c.*540
. . . . . . g.90674
cacacacacacgcacacacctcaataatttctctcaagtttcctgagtctccagaaaaac c.*600
. . . . . . g.90734
agcactaacgctggacctgtctactctcagaacccggcacagattctctcttgatctcct c.*660
. . . . . . g.90794
tttggaatctgagattcttagaagacaggatagggttaaatttagtagcagctcagttct c.*720
. . . . . . g.90854
agctaaatcactagaggaagttaattaactttaagccttcatttctccagcactaaaatg c.*780
. . . . . . g.90914
gagtggagagttggggtggaaataagacatccttaaaaggttaaattgtctgcaaagcac c.*840
. . . . . . g.90974
ctagcccagtgccgagctcccagtaggtgttcagtaaagcttagtgcctgactttctgaa c.*900
. . . . . . g.91034
cactgattcctcctgtttggagtcactgggatactctcattgccgttgggatgttcctca c.*960
. . . . . . g.91094
ctccttcccagttcgtggctgaggcagaacccagactgaagagggaagagacattccaga c.*1020
. . . . . . g.91154
ggaggattgccttcgtcagggtaaggggtgggctgctcaggggccctacccttcaccccc c.*1080
. . . . . . g.91214
ttctgtatcagattggccctcccactcccatctcactctgcgtgtacaatcttccatatc c.*1140
. . . . . . g.91274
cgcaagttcactggcactcttctggcacctgggcaagatcccagaacagaggatggagtg c.*1200
. . . . . . g.91334
actggcctcacagagcttagtgcccgactcaggggaaatgggactggtgcatgggaaatg c.*1260
. . . . . . g.91394
gtcagcctaggataggacacgagagtctgaaattcaaagcaaccagcttgaagtggtttg c.*1320
. . . . . . g.91454
agaagctggaagcaaacatgggctagagagatagggcagaagtcaagacgaggatctgga c.*1380
. . . . . . g.91514
ctgatgtggagaaagtagccacggaagcatgaactgtatcctgcacaaagtccctcttcc c.*1440
. . . . . . g.91574
ccgcctcctaattcattatgcccaaaaggccttacgtgaaattccagcccagagtactca c.*1500
. . . . . . g.91634
tgacttgagagacgtggacagagccagcttctaccttgcctggccgtctctcccctgtct c.*1560
. . . . . . g.91694
taatgtctgctcttgctctaagctccagaagagtggcgggccatgtatcttcaatatgtt c.*1620
. . . . . . g.91754
tttgctgtatgggcaggttgtcttattatgtgatcaacagatgtccaggaactaatgagt c.*1680
. . . . g.91797
ggaatttaatattattgtcaaataaaacttgatttgtcctata c.*1723
(downstream sequence)
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