(used for variant description)
(last modified July 24, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000273.2 in the GPR143 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009074.1, covering GPR143 transcript NM_000273.2.
(upstream sequence)
. . g.4940
caccgagcctggctctactgcaggcgct c.-121
. . . . . . g.5000
gggggttggggtgggggagaggcccagggcacatgatgccgcccccagcccgcccagcac c.-61
. . . . . . g.5060
atgacccaggcaggccggcggggtcctggcacacccgagccgcgtccgcgaacacagccc c.-1
. . . . . . g.5120
ATGGCCTCCCCGCGCCTAGGGACCTTCTGCTGCCCCACGCGGGACGCAGCCACGCAGCTC c.60
M A S P R L G T F C C P T R D A A T Q L p.20
. . . . . . g.5180
GTGCTGAGCTTCCAGCCGCGGGCCTTCCACGCGCTCTGCCTGGGCAGCGGCGGGCTCCGC c.120
V L S F Q P R A F H A L C L G S G G L R p.40
. . . . . . g.5240
TTGGCGCTGGGCCTTCTGCAGCTGCTGCCCGGCCGCCGGCCCGCGGGCCCCGGGTCCCCC c.180
L A L G L L Q L L P G R R P A G P G S P p.60
. . . . . . g.5300
GCGACGTCCCCGCCGGCCTCGGTCCGCATCCTGCGCGCTGCCGCTGCCTGCGACCTTCTC c.240
A T S P P A S V R I L R A A A A C D L L p.80
. | 02 . . . . . g.10101
GGCTGCCTGG | GTATGGTGATCCGGTCCACCGTGTGGTTAGGATTCCCAAATTTTGTTGAC c.300
G C L G | M V I R S T V W L G F P N F V D p.100
. . . . . . g.10161
AGCGTCTCGGATATGAACCACACGGAAATTTGGCCTGCTGCTTTCTGCGTGGGGAGTGCG c.360
S V S D M N H T E I W P A A F C V G S A p.120
| 03 . . . . . . g.11511
| ATGTGGATCCAGCTGTTGTACAGTGCCTGCTTCTGGTGGCTGTTTTGCTATGCAGTGGAT c.420
| M W I Q L L Y S A C F W W L F C Y A V D p.140
. . . | 04 . . . g.22236
GCTTATCTGGTGATCCGGAGATCGGCAGGACTGAG | CACCATCCTGCTGTATCACATCATG c.480
A Y L V I R R S A G L S | T I L L Y H I M p.160
. . . . . . g.22296
GCGTGGGGCCTGGCCACCCTGCTCTGTGTGGAGGGAGCCGCCATGCTCTACTACCCTTCC c.540
A W G L A T L L C V E G A A M L Y Y P S p.180
| 05 . . . . . g.24776
GTGTCCAG | GTGTGAGCGGGGCCTGGACCACGCCATCCCCCACTATGTCACCATGTACCTG c.600
V S R | C E R G L D H A I P H Y V T M Y L p.200
. . . . . | 06 g.27206
CCCCTGCTGCTGGTTCTCGTGGCGAACCCCATCCTGTTCCAAAAGACAGTGACTGCAG | TG c.660
P L L L V L V A N P I L F Q K T V T A V | p.220
. . . . . . g.27266
GCCTCTTTACTTAAAGGAAGACAAGGCATTTACACGGAGAACGAGAGGAGGATGGGAGCC c.720
A S L L K G R Q G I Y T E N E R R M G A p.240
. . . . | 07. . g.29435
GTGATCAAGATCCGATTTTTCAAAATCATGCTGGTTTTAATTATTTG | TTGGTTGTCGAAT c.780
V I K I R F F K I M L V L I I C | W L S N p.260
. . . . . . g.29495
ATCATCAATGAAAGCCTTTTATTCTATCTTGAGATGCAAACAGATATCAATGGAGGTTCT c.840
I I N E S L L F Y L E M Q T D I N G G S p.280
. . . . | 08 . . g.31173
TTGAAACCTGTCAGAACTGCAGCCAAGACCACATGGTTTATTATG | GGAATCCTGAATCCA c.900
L K P V R T A A K T T W F I M | G I L N P p.300
. . . . . . g.31233
GCCCAGGGATTTCTCTTGTCTTTGGCCTTCTACGGCTGGACAGGATGCAGCCTGGGTTTT c.960
A Q G F L L S L A F Y G W T G C S L G F p.320
. . . . . . g.31293
CAGTCTCCCAGGAAGGAGATCCAGTGGGAATCACTGACCACCTCGGCTGCTGAGGGGGCT c.1020
Q S P R K E I Q W E S L T T S A A E G A p.340
. . . . . . g.31353
CACCCATCCCCACTGATGCCCCATGAAAACCCTGCTTCCGGGAAGGTGTCTCAAGTGGGT c.1080
H P S P L M P H E N P A S G K V S Q V G p.360
. . . . | 09 . . g.45057
GGGCAGACTTCTGACGAAGCCCTGAGCATGCTGTCTGAAG | GTTCTGATGCCAGCACAATT c.1140
G Q T S D E A L S M L S E G | S D A S T I p.380
. . . . . . g.45117
GAAATTCACACTGCAAGTGAATCCTGCAACAAAAATGAGGGTGACCCTGCTCTCCCAACC c.1200
E I H T A S E S C N K N E G D P A L P T p.400
. g.45132
CATGGAGACCTATGA c.1215
H G D L X p.404
. . . . . . g.45192
aggggatgtgctgggggtccagaccccatattcctcagactcaacaattcttgttcttta c.*60
. . . . . . g.45252
gaactgtgttctcaccttcccaacactgcactgccgaagtgtagcggcccccaaaccttg c.*120
. . . . . . g.45312
ctctcatcaccagctagagcttcttcccgaagggcctttaggataggagaaagggttcat c.*180
. . . . . . g.45372
gcacacacgtgtgagaatggaagagccccctccagaccactctacagctgctctagcctt c.*240
. . . . . . g.45432
agttgccactaggaagttttctgaggctggctgtaaagtaagtgtaaggtccacatcctt c.*300
. . . g.45465
ggggaagtagttaaataaaatagttatgactga c.*333
(downstream sequence)
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