(used for variant description)
(last modified April 29, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_004444.4 in the EPHB4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering EPHB4 transcript NM_004444.4.
(upstream sequence)
. g.5011
ttccagcgcag c.-481
. . . . . . g.5071
ctcagcccctgcccggcccggcccgcccggctccgcgccgcagtctccctccctcccgct c.-421
. . . . . . g.5131
ccgtccccgctcgggctcccaccatccccgcccgcgaggagagcactcggcccggcggcg c.-361
. . . . . . g.5191
cgagcagagccactccagggagggggggagaccgcgagcggccggctcagcccccgccac c.-301
. . . . . . g.5251
ccggggcgggaccccgaggccccggagggaccccaactccagccacgtcttgctgcgcgc c.-241
. . . . . . g.5311
ccgcccggcgcggccactgccagcacgctccgggcccgccgcccgcgcgcgcggcacaga c.-181
. . . . . . g.5371
cgcggggccacacttggcgccgccgcccggtgccccgcacgctcgcatgggcccgcgctg c.-121
. . . . . . g.5431
agggccccgacgaggagtcccgcgcggagtatcggcgtccacccgcccagggagagtcag c.-61
. . . . . . g.5491
acctgggggggcgagggccccccaaactcagttcggatcctacccgagtgaggcggcgcc c.-1
. . . . . | 02 . g.8256
ATGGAGCTCCGGGTGCTGCTCTGCTGGGCTTCGTTGGCCGCAGCTTTGGAAG | AGACCCTG c.60
M E L R V L L C W A S L A A A L E E | T L p.20
. . . . . . g.8316
CTGAACACAAAATTGGAAACTGCTGATCTGAAGTGGGTGACATTCCCTCAGGTGGACGGG c.120
L N T K L E T A D L K W V T F P Q V D G p.40
| 03 . . . . . . g.8647
CAG | TGGGAGGAACTGAGCGGCCTGGATGAGGAACAGCACAGCGTGCGCACCTACGAAGTG c.180
Q | W E E L S G L D E E Q H S V R T Y E V p.60
. . . . . . g.8707
TGTGACGTGCAGCGTGCCCCGGGCCAGGCCCACTGGCTTCGCACAGGTTGGGTCCCACGG c.240
C D V Q R A P G Q A H W L R T G W V P R p.80
. . . . . . g.8767
CGGGGCGCCGTCCACGTGTACGCCACGCTGCGCTTCACCATGCTCGAGTGCCTGTCCCTG c.300
R G A V H V Y A T L R F T M L E C L S L p.100
. . . . . . g.8827
CCTCGGGCTGGGCGCTCCTGCAAGGAGACCTTCACCGTCTTCTACTATGAGAGCGATGCG c.360
P R A G R S C K E T F T V F Y Y E S D A p.120
. . . . . | 04 . g.9863
GACACGGCCACGGCCCTCACGCCAGCCTGGATGGAGAACCCCTACATCAAG | GTGGACACG c.420
D T A T A L T P A W M E N P Y I K | V D T p.140
. . . . . . g.9923
GTGGCCGCGGAGCATCTCACCCGGAAGCGCCCTGGGGCCGAGGCCACCGGGAAGGTGAAT c.480
V A A E H L T R K R P G A E A T G K V N p.160
. . . . . . g.9983
GTCAAGACGCTGCGTCTGGGACCGCTCAGCAAGGCTGGCTTCTACCTGGCCTTCCAGGAC c.540
V K T L R L G P L S K A G F Y L A F Q D p.180
. . . . . . g.10043
CAGGGTGCCTGCATGGCCCTGCTATCCCTGCACCTCTTCTACAAAAAGTGCGCCCAGCTG c.600
Q G A C M A L L S L H L F Y K K C A Q L p.200
. . . . . . g.10103
ACTGTGAACCTGACTCGATTCCCGGAGACTGTGCCTCGGGAGCTGGTTGTGCCCGTGGCC c.660
T V N L T R F P E T V P R E L V V P V A p.220
. . . . . . g.10163
GGTAGCTGCGTGGTGGATGCCGTCCCCGCCCCTGGCCCCAGCCCCAGCCTCTACTGCCGT c.720
G S C V V D A V P A P G P S P S L Y C R p.240
. . . . . . g.10223
GAGGATGGCCAGTGGGCCGAACAGCCGGTCACGGGCTGCAGCTGTGCTCCGGGGTTCGAG c.780
E D G Q W A E Q P V T G C S C A P G F E p.260
. . | 05 . . . g.12257
GCAGCTGAGGGGAACACCAAGTGCCGAG | CCTGTGCCCAGGGCACCTTCAAGCCCCTGTCA c.840
A A E G N T K C R A | C A Q G T F K P L S p.280
. . . . . . g.12317
GGAGAAGGGTCCTGCCAGCCATGCCCAGCCAATAGCCACTCTAACACCATTGGATCAGCC c.900
G E G S C Q P C P A N S H S N T I G S A p.300
. . . . . . g.12377
GTCTGCCAGTGCCGCGTCGGGTACTTCCGGGCACGCACAGACCCCCGGGGTGCACCCTGC c.960
V C Q C R V G Y F R A R T D P R G A P C p.320
| 06 . . . . . . g.12688
ACCA | CCCCTCCTTCGGCTCCGCGGAGCGTGGTTTCCCGCCTGAACGGCTCCTCCCTGCAC c.1020
T T | P P S A P R S V V S R L N G S S L H p.340
. . . . . . g.12748
CTGGAATGGAGTGCCCCCCTGGAGTCTGGTGGCCGAGAGGACCTCACCTACGCCCTCCGC c.1080
L E W S A P L E S G G R E D L T Y A L R p.360
. . . . . . g.12808
TGCCGGGAGTGCCGACCCGGAGGCTCCTGTGCGCCCTGCGGGGGAGACCTGACTTTTGAC c.1140
C R E C R P G G S C A P C G G D L T F D p.380
. . . . . . g.12868
CCCGGCCCCCGGGACCTGGTGGAGCCCTGGGTGGTGGTTCGAGGGCTACGTCCTGACTTC c.1200
P G P R D L V E P W V V V R G L R P D F p.400
. . . . . . g.12928
ACCTATACCTTTGAGGTCACTGCATTGAACGGGGTATCCTCCTTAGCCACGGGGCCCGTC c.1260
T Y T F E V T A L N G V S S L A T G P V p.420
. . . | 07. . . g.13900
CCATTTGAGCCTGTCAATGTCACCACTGACCGAGAGG | TACCTCCTGCAGTGTCTGACATC c.1320
P F E P V N V T T D R E V | P P A V S D I p.440
. . . . . . g.13960
CGGGTGACGCGGTCCTCACCCAGCAGCTTGAGCCTGGCCTGGGCTGTTCCCCGGGCACCC c.1380
R V T R S S P S S L S L A W A V P R A P p.460
. . . . | 08 . . g.15182
AGTGGGGCTGTGCTGGACTACGAGGTCAAATACCATGAGAAG | GGCGCCGAGGGTCCCAGC c.1440
S G A V L D Y E V K Y H E K | G A E G P S p.480
. . . . . . g.15242
AGCGTGCGGTTCCTGAAGACGTCAGAAAACCGGGCAGAGCTGCGGGGGCTGAAGCGGGGA c.1500
S V R F L K T S E N R A E L R G L K R G p.500
. . . . . . g.15302
GCCAGCTACCTGGTGCAGGTACGGGCGCGCTCTGAGGCCGGCTACGGGCCCTTCGGCCAG c.1560
A S Y L V Q V R A R S E A G Y G P F G Q p.520
. . | 09 . . . g.18532
GAACATCACAGCCAGACCCAACTGGATG | AGAGCGAGGGCTGGCGGGAGCAGCTGGCCCTG c.1620
E H H S Q T Q L D E | S E G W R E Q L A L p.540
. . . . . . g.18592
ATTGCGGGCACGGCAGTCGTGGGTGTGGTCCTGGTCCTGGTGGTCATTGTGGTCGCAGTT c.1680
I A G T A V V G V V L V L V V I V V A V p.560
. | 10 . . . . . g.18854
CTCTGCCTCAG | GAAGCAGAGCAATGGGAGAGAAGCAGAATATTCGGACAAACACGGACAG c.1740
L C L R | K Q S N G R E A E Y S D K H G Q p.580
. | 11 . . . . . g.19357
TATCTCATCGGACATG | GTACTAAGGTCTACATCGACCCCTTCACTTATGAAGACCCTAAT c.1800
Y L I G H G | T K V Y I D P F T Y E D P N p.600
. . . . . . g.19417
GAGGCTGTGAGGGAATTTGCAAAAGAGATCGATGTCTCCTACGTCAAGATTGAAGAGGTG c.1860
E A V R E F A K E I D V S Y V K I E E V p.620
. | 12 . . . . . g.19577
ATTGGTGCAG | GTGAGTTTGGCGAGGTGTGCCGGGGGCGGCTCAAGGCCCCAGGGAAGAAG c.1920
I G A G | E F G E V C R G R L K A P G K K p.640
. . . . . . g.19637
GAGAGCTGTGTGGCAATCAAGACCCTGAAGGGTGGCTACACGGAGCGGCAGCGGCGTGAG c.1980
E S C V A I K T L K G G Y T E R Q R R E p.660
. . . . . . g.19697
TTTCTGAGCGAGGCCTCCATCATGGGCCAGTTCGAGCACCCCAATATCATCCGCCTGGAG c.2040
F L S E A S I M G Q F E H P N I I R L E p.680
. . . . . . g.19757
GGCGTGGTCACCAACAGCATGCCCGTCATGATTCTCACAGAGTTCATGGAGAACGGCGCC c.2100
G V V T N S M P V M I L T E F M E N G A p.700
. | 13 . . . . g.24983
CTGGACTCCTTCCTGCGG | CTAAACGACGGACAGTTCACAGTCATCCAGCTCGTGGGCATG c.2160
L D S F L R | L N D G Q F T V I Q L V G M p.720
. . . . . . g.25043
CTGCGGGGCATCGCCTCGGGCATGCGGTACCTTGCCGAGATGAGCTACGTCCACCGAGAC c.2220
L R G I A S G M R Y L A E M S Y V H R D p.740
. . . . . . g.25103
CTGGCTGCTCGCAACATCCTAGTCAACAGCAACCTCGTCTGCAAAGTGTCTGACTTTGGC c.2280
L A A R N I L V N S N L V C K V S D F G p.760
. . . . . | 14 . g.25958
CTTTCCCGATTCCTGGAGGAGAACTCTTCCGATCCCACCTACACGAGCTCCCTG | GGAGGA c.2340
L S R F L E E N S S D P T Y T S S L | G G p.780
. . . . . . g.26018
AAGATTCCCATCCGATGGACTGCCCCGGAGGCCATTGCCTTCCGGAAGTTCACTTCCGCC c.2400
K I P I R W T A P E A I A F R K F T S A p.800
. . . . . . g.26078
AGTGATGCCTGGAGTTACGGGATTGTGATGTGGGAGGTGATGTCATTTGGGGAGAGGCCG c.2460
S D A W S Y G I V M W E V M S F G E R P p.820
. . | 15 . . . . g.26863
TACTGGGACATGAGCAATCAGGAC | GTGATCAATGCCATTGAACAGGACTACCGGCTGCCC c.2520
Y W D M S N Q D | V I N A I E Q D Y R L P p.840
. . . . . . g.26923
CCGCCCCCAGACTGTCCCACCTCCCTCCACCAGCTCATGCTGGACTGTTGGCAGAAAGAC c.2580
P P P D C P T S L H Q L M L D C W Q K D p.860
. . . . . . g.26983
CGGAATGCCCGGCCCCGCTTCCCCCAGGTGGTCAGCGCCCTGGACAAGATGATCCGGAAC c.2640
R N A R P R F P Q V V S A L D K M I R N p.880
. . . | 16 . . g.27222
CCCGCCAGCCTCAAAATCGTGGCCCGGGAGAATGGCGG | GGCCTCACACCCTCTCCTGGAC c.2700
P A S L K I V A R E N G G | A S H P L L D p.900
. . . . . . g.27282
CAGCGGCAGCCTCACTACTCAGCTTTTGGCTCTGTGGGCGAGTGGCTTCGGGCCATCAAA c.2760
Q R Q P H Y S A F G S V G E W L R A I K p.920
. . . . . . g.27342
ATGGGAAGATACGAAGAAAGTTTCGCAGCCGCTGGCTTTGGCTCCTTCGAGCTGGTCAGC c.2820
M G R Y E E S F A A A G F G S F E L V S p.940
. | 17 . . . . . g.28977
CAGATCTCTGCTGA | GGACCTGCTCCGAATCGGAGTCACTCTGGCGGGACACCAGAAGAAA c.2880
Q I S A E | D L L R I G V T L A G H Q K K p.960
. . . . . . g.29037
ATCTTGGCCAGTGTCCAGCACATGAAGTCCCAGGCCAAGCCGGGAACCCCGGGTGGGACA c.2940
I L A S V Q H M K S Q A K P G T P G G T p.980
. . g.29061
GGAGGACCGGCCCCGCAGTACTGA c.2964
G G P A P Q Y X p.987
. . . . . . g.29121
cctgcaggaactccccaccccagggacaccgcctccccattttccggggcagagtgggga c.*60
. . . . . . g.29181
ctcacagaggcccccagccctgtgccccgctggattgcactttgagcccgtggggtgagg c.*120
. . . . . . g.29241
agttggcaatttggagagacaggatttgggggttctgccataataggaggggaaaatcac c.*180
. . . . . . g.29301
cccccagccacctcggggaactccagaccaagggtgagggcgcctttccctcaggactgg c.*240
. . . . . . g.29361
gtgtgaccagaggaaaaggaagtgcccaacatctcccagcctccccaggtgcccccctca c.*300
. . . . . . g.29421
ccttgatgggtgcgttcccgcagaccaaagagagtgtgactcccttgccagctccagagt c.*360
. . . . . . g.29481
gggggggctgtcccagggggcaagaaggggtgtcagggcccagtgacaaaatcattgggg c.*420
. . . . . . g.29541
tttgtagtcccaacttgctgctgtcaccaccaaactcaatcatttttttcccttgtaaat c.*480
. . . . . . g.29601
gcccctcccccagctgctgccttcatattgaaggtttttgagttttgtttttggtcttaa c.*540
. . . . . . g.29661
tttttctccccgttccctttttgtttcttcgttttgtttttctaccgtccttgtcataac c.*600
. . . . . . g.29721
tttgtgttggagggaacctgtttcactatggcctcctttgcccaagttgaaacaggggcc c.*660
. . . . . . g.29781
catcatcatgtctgtttccagaacagtgccttggtcatcccacatccccggaccccgcct c.*720
. . . . . . g.29841
gggacccccaagctgtgtcctatgaaggggtgtggggtgaggtagtgaaaagggcggtag c.*780
. . . . . . g.29901
ttggtggtggaacccagaaacggacgccggtgcttggaggggttcttaaattatatttaa c.*840
. . . . . g.29957
aaaagtaactttttgtataaataaaagaaaatgggacgtgtcccagctccaggggt c.*896
(downstream sequence)
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