(used for variant description)
(last modified April 21, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_016938.4 in the EFEMP2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012304.2, covering EFEMP2 transcript NM_016938.4.
(upstream sequence)
. g.5019
gggcctgtggctggccggg c.-241
. . . . . . g.5079
ggcggagaagcggggggtcggggtccctccccctggcgctggctcaggaatccgccgaag c.-181
. . . . . . g.5139
ggcgggcggaggcgccggggtgggccgcgccgcggcaggcgggcgggcggggggcgcttc c.-121
. . . . . . g.5199
ctggggccgcgcgtccagggagctgtgccgtccgcccgtccgtctgcccgcaggcattgc c.-61
. . . . . . | 02 g.5580
ccgagccagccgagccgccagagccgcgggccgcgggggtgtcgcgggcccaa | ccccagg c.-1
. . . . . . g.5640
ATGCTCCCCTGCGCCTCCTGCCTACCCGGGTCTCTACTGCTCTGGGCGCTGCTACTGTTG c.60
M L P C A S C L P G S L L L W A L L L L p.20
. . . . . | 03 . g.5925
CTCTTGGGATCAGCTTCTCCTCAGGATTCTGAAGAGCCCGACAGCTACACG | GAATGCACA c.120
L L G S A S P Q D S E E P D S Y T | E C T p.40
. . . . | 04 . . g.6591
GATGGCTATGAGTGGGACCCAGACAGCCAGCACTGCCGGG | ATGTCAACGAGTGTCTGACC c.180
D G Y E W D P D S Q H C R D | V N E C L T p.60
. . . . . . g.6651
ATCCCTGAGGCCTGCAAGGGGGAAATGAAGTGCATCAACCACTACGGGGGCTACTTGTGC c.240
I P E A C K G E M K C I N H Y G G Y L C p.80
. . . . . . g.6711
CTGCCCCGCTCCGCTGCCGTCATCAACGACCTACACGGCGAGGGACCCCCGCCACCAGTG c.300
L P R S A A V I N D L H G E G P P P P V p.100
. . . . . . g.6771
CCTCCCGCTCAACACCCCAACCCCTGCCCACCAGGCTATGAGCCCGACGATCAGGACAGC c.360
P P A Q H P N P C P P G Y E P D D Q D S p.120
| 05. . . . . . g.7329
TGTGTGG | ATGTGGACGAGTGTGCCCAGGCCCTGCACGACTGTCGCCCCAGCCAGGACTGC c.420
C V D | V D E C A Q A L H D C R P S Q D C p.140
. . . . . . g.7389
CATAACTTGCCTGGCTCCTATCAGTGCACCTGCCCTGATGGTTACCGCAAGATCGGGCCC c.480
H N L P G S Y Q C T C P D G Y R K I G P p.160
. | 06 . . . . . g.7747
GAGTGTGTGG | ACATAGACGAGTGCCGCTACCGCTACTGCCAGCACCGCTGCGTGAACCTG c.540
E C V D | I D E C R Y R Y C Q H R C V N L p.180
. . . . . . g.7807
CCTGGCTCCTTCCGCTGCCAGTGCGAGCCGGGCTTCCAGCTGGGGCCTAACAACCGCTCC c.600
P G S F R C Q C E P G F Q L G P N N R S p.200
| 07. . . . . . g.8011
TGTGTTG | ATGTGAACGAGTGTGACATGGGGGCCCCATGCGAGCAGCGCTGCTTCAACTCC c.660
C V D | V N E C D M G A P C E Q R C F N S p.220
. . . . . . g.8071
TATGGGACCTTCCTGTGTCGCTGCCACCAGGGCTATGAGCTGCATCGGGATGGCTTCTCC c.720
Y G T F L C R C H Q G Y E L H R D G F S p.240
| 08. . . . . . g.9358
TGCAGTG | ATATTGATGAGTGTAGCTACTCCAGCTACCTCTGTCAGTACCGCTGCATCAAC c.780
C S D | I D E C S Y S S Y L C Q Y R C I N p.260
. . . . . . g.9418
GAGCCAGGCCGTTTCTCCTGCCACTGCCCACAGGGTTACCAGCTGCTGGCCACACGCCTC c.840
E P G R F S C H C P Q G Y Q L L A T R L p.280
| 09. . . . . . g.9566
TGCCAAG | ACATTGATGAGTGTGAGTCTGGTGCGCACCAGTGCTCCGAGGCCCAAACCTGT c.900
C Q D | I D E C E S G A H Q C S E A Q T C p.300
. . . . . . g.9626
GTCAACTTCCATGGGGGCTACCGCTGCGTGGACACCAACCGCTGCGTGGAGCCCTACATC c.960
V N F H G G Y R C V D T N R C V E P Y I p.320
. | 10 . . . . . g.9924
CAGGTCTCTGAGAA | CCGCTGTCTCTGCCCGGCCTCCAACCCTCTATGTCGAGAGCAGCCT c.1020
Q V S E N | R C L C P A S N P L C R E Q P p.340
. . . . . . g.9984
TCATCCATTGTGCACCGCTACATGACCATCACCTCGGAGCGGAGCGTGCCCGCTGACGTG c.1080
S S I V H R Y M T I T S E R S V P A D V p.360
. . . . . . g.10044
TTCCAGATCCAGGCGACCTCCGTCTACCCCGGTGCCTACAATGCCTTTCAGATCCGTGCT c.1140
F Q I Q A T S V Y P G A Y N A F Q I R A p.380
. . . | 11 . . . g.10885
GGAAACTCGCAGGGGGACTTTTACATTAGG | CAAATCAACAACGTCAGCGCCATGCTGGTC c.1200
G N S Q G D F Y I R | Q I N N V S A M L V p.400
. . . . . . g.10945
CTCGCCCGGCCGGTGACGGGCCCCCGGGAGTACGTGCTGGACCTGGAGATGGTCACCATG c.1260
L A R P V T G P R E Y V L D L E M V T M p.420
. . . . . . g.11005
AATTCCCTCATGAGCTACCGGGCCAGCTCTGTACTGAGGCTCACCGTCTTTGTAGGGGCC c.1320
N S L M S Y R A S S V L R L T V F V G A p.440
. g.11017
TACACCTTCTGA c.1332
Y T F X p.443
. . . . . . g.11077
ggagcaggagggagccaccctccctgcagctaccctagctgaggagcctgttgtgagggg c.*60
. . . . . . g.11137
cagaatgagaaaggcaataaagggagaaagaaagtcctggtggctgaggtgggcgggtca c.*120
. . . . . . g.11197
cactgcaggaagcctcaggctggggcagggtggcacttgggggggcaggccaagttcacc c.*180
. . . . . . g.11257
taaatgggggtctctatatgttcaggcccaggggcccccattgacaggagctgggagctc c.*240
. . . . . . g.11317
tgcaccacgagcttcagtcaccccgagaggagaggaggtaacgaggagggcggactccag c.*300
. . . . . . g.11377
gccccggcccagagatttggacttggctggcttgcaggggtcctaagaaactccactctg c.*360
. . . . . . g.11437
gacagcgccaggaggccctgggttccattcctaactctgcctcaaactgtacatttggat c.*420
. . . . . g.11494
aagccctagtagttccctgggcctgtttttctataaaacgaggcaactggactgtta c.*477
(downstream sequence)
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