(used for variant description)
(last modified November 25, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_019892.4 in the INPP5E gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016126.1, covering INPP5E transcript NM_019892.4.
(upstream sequence)
. . g.5025
ctgggcggccgggcctccgcgagta c.-361
. . . . . . g.5085
ccgggtcgacttcggagtctgcgagcccagccaggggtgcccgcttcccacccctctccc c.-301
. . . . . . g.5145
cgagcggcgtccccgtcggggtcgaacctcccccgcgacaggcgcccagccgcctgttcc c.-241
. . . . . . g.5205
cccaggccttgcctgcggaccgccctgggaacggcgtctgggagccccgaggggctggcg c.-181
. . . . . . g.5265
ggactcggggcccgggccatgcggcagccgcccccgcccctccgcgaccatccccggccc c.-121
. . . . . . g.5325
aagcgggagccgcagcggcgtttctgctcctcgctgcgccggcgaccccggacccggcac c.-61
. . . . . . g.5385
ccgtgacccctcgcgctgcctgcggcctcgcgccgaggcctgccccgggagagaccgtcc c.-1
. . . . . . g.5445
ATGCCGTCCAAGGCGGAGAATCTGCGGCCCTCCGAGCCGGCCCCGCAGCCGCCGGAAGGG c.60
M P S K A E N L R P S E P A P Q P P E G p.20
. . . . . . g.5505
AGGACGCTCCAAGGACAGCTTCCCGGCGCTCCGCCGGCCCAGCGCGCGGGGTCCCCACCC c.120
R T L Q G Q L P G A P P A Q R A G S P P p.40
. . . . . . g.5565
GATGCTCCGGGCTCCGAGAGCCCCGCGCTTGCCTGCAGCACTCCGGCCACGCCCAGCGGC c.180
D A P G S E S P A L A C S T P A T P S G p.60
. . . . . . g.5625
GAGGACCCGCCAGCCCGAGCAGCACCCATCGCCCCGCGGCCCCCCGCCAGGCCTCGACTG c.240
E D P P A R A A P I A P R P P A R P R L p.80
. . . . . . g.5685
GAGCGAGCCCTGTCCCTGGACGACAAGGGCTGGAGGAGGAGGCGTTTTCGAGGCAGCCAG c.300
E R A L S L D D K G W R R R R F R G S Q p.100
. . . . . . g.5745
GAGGACCTGGAAGCCCGGAATGGGACCAGTCCCTCCAGGGGCTCAGTGCAGAGCGAGGGC c.360
E D L E A R N G T S P S R G S V Q S E G p.120
. . . . . . g.5805
CCCGGGGCCCCCGCCCACAGCTGCTCCCCGCCCTGCCTGAGCACCTCCTTGCAGGAAATC c.420
P G A P A H S C S P P C L S T S L Q E I p.140
. . . . . . g.5865
CCCAAGTCCCGCGGGGTCCTGAGCAGTGAGAGAGGGAGCCCGTCCTCGGGGGGTAACCCT c.480
P K S R G V L S S E R G S P S S G G N P p.160
. . . . . . g.5925
CTCTCTGGGGTGGCCAGCAGCTCCCCGAACCTCCCGCACAGAGACGCCGCCGTGGCGGGG c.540
L S G V A S S S P N L P H R D A A V A G p.180
. . . . . . g.5985
AGCTCGCCCAGGCTGCCCAGCCTGCTGCCCCCGCGCCCACCGCCTGCCCTGAGCCTGGAC c.600
S S P R L P S L L P P R P P P A L S L D p.200
. . . . . . g.6045
ATCGCCTCCGACTCCCTGAGGACAGCAAACAAGGTCGACTCGGATCTTGCAGACTACAAG c.660
I A S D S L R T A N K V D S D L A D Y K p.220
. . . . . . g.6105
CTCCGCGCGCAGCCGCTCCTGGTGCGGGCCCACAGCAGCCTGGGCCCCGGCCGGCCGCGG c.720
L R A Q P L L V R A H S S L G P G R P R p.240
. . . . . . g.6165
AGCCCCCTGGCCTGCGACGACTGTTCCCTTCGCTCGGCCAAATCCTCCTTCAGCCTCCTG c.780
S P L A C D D C S L R S A K S S F S L L p.260
. . . | 02 . . . g.9969
GCGCCCATCCGCAGCAAGGACGTCCGCAGCAG | GAGTTACCTGGAGGGCAGCCTCCTGGCC c.840
A P I R S K D V R S R | S Y L E G S L L A p.280
. . . . . . g.10029
AGCGGGGCCCTGTTGGGGGCGGATGAGCTGGCCCGCTACTTCCCAGACCGGAACGTGGCA c.900
S G A L L G A D E L A R Y F P D R N V A p.300
. . . | 03 . . . g.10694
CTCTTCGTGGCCACCTGGAACATGCAGGGCCAGAAG | GAGCTCCCGCCCAGCCTGGACGAG c.960
L F V A T W N M Q G Q K | E L P P S L D E p.320
. . . . . . g.10754
TTCCTGCTCCCAGCCGAGGCCGACTATGCCCAGGACCTGTATGTCATCGGGGTCCAGGAG c.1020
F L L P A E A D Y A Q D L Y V I G V Q E p.340
. | 04 . . . . . g.11571
GGCTGTTCTGACAG | GCGGGAGTGGGAGACTCGTCTGCAGGAGACGCTGGGCCCGCACTAT c.1080
G C S D R | R E W E T R L Q E T L G P H Y p.360
. . . . . . g.11631
GTGCTGCTGTCCTCGGCGGCCCACGGCGTGCTCTACATGTCGCTCTTCATCCGCAGGGAC c.1140
V L L S S A A H G V L Y M S L F I R R D p.380
. | 05 . . . . g.11770
CTCATCTGGTTCTGCTCAG | AGGTGGAGTGCTCCACGGTGACCACACGCATCGTGTCTCAG c.1200
L I W F C S E | V E C S T V T T R I V S Q p.400
. . . . . . g.11830
ATCAAGACCAAGGGGGCCTTGGGCATCAGCTTCACCTTTTTTGGCACTTCCTTCCTCTTC c.1260
I K T K G A L G I S F T F F G T S F L F p.420
. | 06 . . . . g.12259
ATCACGTCCCACTTCACCT | CAGGTGACGGGAAGGTGGCGGAGCGGCTGCTGGACTACACC c.1320
I T S H F T S | G D G K V A E R L L D Y T p.440
. . . . . . g.12319
AGGACTGTACAAGCCCTGGTCCTGCCCAGAAATGTGCCCGACACCAACCCCTATCGCTCC c.1380
R T V Q A L V L P R N V P D T N P Y R S p.460
| 07. . . . . . g.12872
AGCGCAG | CGGACGTCACCACCCGCTTCGATGAGGTGTTCTGGTTTGGAGACTTCAACTTC c.1440
S A A | D V T T R F D E V F W F G D F N F p.480
. . . . . . g.12932
CGCCTGAGTGGCGGGCGCACAGTCGTGGACGCCCTCCTGTGCCAGGGCCTGGTGGTGGAC c.1500
R L S G G R T V V D A L L C Q G L V V D p.500
. . . . | 08 . g.13698
GTGCCGGCGCTGCTGCAGCACGACCAGCTCATCCGGGAGATGCGGAAAG | GGTCCATCTTC c.1560
V P A L L Q H D Q L I R E M R K G | S I F p.520
. . . . . . g.13758
AAGGGCTTCCAGGAGCCGGACATCCACTTCCTCCCATCATACAAGTTTGACATCGGGAAG c.1620
K G F Q E P D I H F L P S Y K F D I G K p.540
. . . . | 09 . . g.14406
GACACGTACGACAGCACCTCCAAGCAGAGGACGCCCTCATACACG | GACCGCGTCTTGTAC c.1680
D T Y D S T S K Q R T P S Y T | D R V L Y p.560
. . . . . . g.14466
AGAAGCCGCCACAAGGGTGACATCTGTCCTGTGAGCTACTCTTCCTGCCCCGGGATCAAG c.1740
R S R H K G D I C P V S Y S S C P G I K p.580
. . . . . . g.14526
ACGTCCGACCACCGCCCTGTGTATGGCCTCTTCCGGGTGAAAGTGAGGCCGGGGCGAGAC c.1800
T S D H R P V Y G L F R V K V R P G R D p.600
| 10 . . . . . . g.15055
AA | CATTCCGTTGGCAGCTGGCAAATTTGATAGAGAACTGTACTTACTAGGAATTAAAAGA c.1860
N | I P L A A G K F D R E L Y L L G I K R p.620
. . . . . . g.15115
CGGATTTCGAAGGAGATTCAGAGGCAGCAAGCACTACAGAGTCAGAACTCCAGCACCATC c.1920
R I S K E I Q R Q Q A L Q S Q N S S T I p.640
. g.15130
TGCTCCGTTTCTTGA c.1935
C S V S X p.644
. . . . . . g.15190
agtttgctgaacgaggactcacagctgcaacgtggggtgattgtattgatcaaaacccac c.*60
. . . . . . g.15250
tgggaaggacaaagagtttgccgcctttcggggatccgagggactgtggcgaccgtgcct c.*120
. . . . . . g.15310
ctgtgccagcgtcccaggaaggaagccaaccctgagcgagcctgtcctctgtggcaggtc c.*180
. . . . . . g.15370
cacacggtgtgggtgggcagggcttggacccccgtctccatggcaggtccatacagcatg c.*240
. . . . . . g.15430
ggtggcagggtttggacccgcccagcagcaccacggaccccagccactctcgggggcaga c.*300
. . . . . . g.15490
cgtcagaatccgttcctgagcagctcctgtgccctgggggcagtcacagagccccccaac c.*360
. . . . . . g.15550
acccccgtgctctgcaccagcctctccctccacacccgaagcaggcgtccatctgtgtcc c.*420
. . . . . . g.15610
tcctggcagcccctcaaacacacaccaccccatgtcacacgggtatccagagcaaggctg c.*480
. . . . . . g.15670
gatctgggctaggtgacccctggggcctcagacctctgagtgggccccagagcccagctg c.*540
. . . . . . g.15730
aggaagccacacagcctccaggacgtggcacggttcccctccacttggctgcaagtcgcc c.*600
. . . . . . g.15790
tgccatggggcgaggaggcctgcaccccagtataagggcctccccagctgagtaagaagc c.*660
. . . . . . g.15850
tgcttcccctcctctcataggccaagcctattgtgtgaaaccatctcatggtcttggtga c.*720
. . . . . . g.15910
cgtagaccatttttgaaaccgtctcatggtcttggtgacgtagaccgtttgcttctttaa c.*780
. . . . . . g.15970
ctccagccgcggaatgacattagtggaaccgggctagggaactgctggaagttcaggatg c.*840
. . . . . . g.16030
ccaccaccttgaacacctaggccagggatccccaccatgtcccgggtttctttcttcgag c.*900
. . . . . . g.16090
agtatagaaccgttcattcttgctttgtgtcccattccatctcttgaaaaaatgtagtct c.*960
. . . . . . g.16150
ttgaatgtgtgaaaatctagggacattcaatctagtcttttaaattatttttccatattt c.*1020
. . . . g.16190
atatttttaaataaatgcatatattgagtcttaaaatctc c.*1060
(downstream sequence)
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