(used for variant description)
(last modified February 27, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_021008.2 in the DEAF1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering DEAF1 transcript NM_021008.2.
(upstream sequence)
. . . g.5033
tgacgaaggggcccgaccgcgccgcgtttcggg c.-661
. . . . . . g.5093
agcggacgtccgagccacggccgaggcccgattagtccgtccggcaccgctcgggcactt c.-601
. . . . . . g.5153
tcggaagggaagaggtggagaaccgacgttcgggagcattcggcctcggggacattcggc c.-541
. . . . . . g.5213
tcgtctcggctcggcctcgggctgactcggcttccgccggcggcgggaacgggcgaaacc c.-481
. . . . . . g.5273
cgcggcactaagctctctctgagaggcagaattgcgccggccgccggcgagaatctgcct c.-421
. . . . . . g.5333
agagccgtccagccctgtcggccggggacgacagccgcctcagcctgtcaggacagtgag c.-361
. . . . . . g.5393
gagagcaggggccgagtctctcggaagccctcgtgaggactcggacctattcggactgat c.-301
. . . . . . g.5453
tcggcttcccacttcggggaacttcgaccctcctcggttcaggactcggtctcggctcgg c.-241
. . . . . . g.5513
cggcttcgtgcaggttcggctcctactcgggcagcctctgttcgcctcggctccgctccg c.-181
. . . . . . g.5573
cgggcggactcggctcggctctgctcggcggctggctgccttttcggtccctattcgggc c.-121
. . . . . . g.5633
ggcggcttcgggcggcctcggcccagctcgggcgtcctcttcgggccccgcttcgggctc c.-61
. . . . . . g.5693
cgcgaccggcgcttcgggcggtcccggacggcgccttcgggaaggctcggcggagtccgg c.-1
. . . . . . g.5753
ATGGAGGACTCGGACTCGGCGGCAAAGCAGCTGGGCCTGGCTGAGGCGGCGGCGGTGGCG c.60
M E D S D S A A K Q L G L A E A A A V A p.20
. . . . . . g.5813
GCCGCGGCCGCTGTGGCGGCGGCGGCCGCGGCCGCGGCAGGAGGCGAGGCGGAGGAGCCG c.120
A A A A V A A A A A A A A G G E A E E P p.40
. . . . . . g.5873
GTGCTGAGCAGGGACGAGGACTCGGAGGAGGACGCAGACTCGGAGGCGGAGCGGGAGACG c.180
V L S R D E D S E E D A D S E A E R E T p.60
. . . . . . g.5933
CCGCGGGTCACGGCAGTGGCGGTGATGGCGGCGGAGCCCGGGCACATGGACATGGGCGCC c.240
P R V T A V A V M A A E P G H M D M G A p.80
. . . . | 02 . g.9153
GAGGCCCTGCCCGGCCCCGACGAGGCCGCCGCTGCCGCAGCCTTCGCAG | AGGTGACCACA c.300
E A L P G P D E A A A A A A F A E | V T T p.100
. . . . . . g.9213
GTGACAGTGGCCAACGTGGGGGCTGCTGCAGACAATGTCTTCACCACGTCTGTGGCGAAC c.360
V T V A N V G A A A D N V F T T S V A N p.120
. . | 03. . . . g.12313
GCGGCATCCATCTCAGGACATGTTCTG | TCTGGTAGGACGGCCCTTCAGATCGGGGACAGC c.420
A A S I S G H V L | S G R T A L Q I G D S p.140
. . . . . . g.12373
CTGAACACCGAAAAAGCGACACTGATTGTCGTCCACACAGATGGGAGCATCGTGGAGACC c.480
L N T E K A T L I V V H T D G S I V E T p.160
. . . | 04. . . g.12706
ACCGGGCTGAAAGGCCCGGCAGCTCCCCTCACCCCAG | GTCCTCAGTCTCCTCCAACCCCT c.540
T G L K G P A A P L T P G | P Q S P P T P p.180
. . . . . . g.12766
CTGGCTCCCGGCCAAGAAAAAGGTGGAACTAAATACAACTGGGACCCTTCTGTGTACGAC c.600
L A P G Q E K G G T K Y N W D P S V Y D p.200
. . . . . . g.12826
AGTGAGCTGCCCGTACGGTGCCGGAACATCAGCGGCACTCTGTACAAGAACAGGCTCGGC c.660
S E L P V R C R N I S G T L Y K N R L G p.220
| 05 . . . . . . g.13799
TCAG | GCGGCCGGGGACGGTGCATCAAGCAGGGGGAGAACTGGTACAGTCCCACCGAGTTT c.720
S G | G R G R C I K Q G E N W Y S P T E F p.240
. . . . . . g.13859
GAGGCCATGGCAGGAAGAGCCAGCAGTAAGGACTGGAAAAGAAGCATTCGCTACGCGGGC c.780
E A M A G R A S S K D W K R S I R Y A G p.260
. . | 06 . . . . g.15813
CGACCCTTGCAGTGCCTCATCCAG | GATGGGATCTTAAACCCTCACGCTGCCTCTTGCACC c.840
R P L Q C L I Q | D G I L N P H A A S C T p.280
. . . | 07 . . . g.19681
TGTGCTGCCTGCTGCGACGACATGACCTTA | AGTGGCCCAGTCAGGCTTTTTGTGCCTTAC c.900
C A A C C D D M T L | S G P V R L F V P Y p.300
. . . . . . g.19741
AAAAGGCGCAAGAAGGAGAATGAACTGCCCACAACTCCCGTGAAGAAGGACTCCCCCAAG c.960
K R R K K E N E L P T T P V K K D S P K p.320
. . . | 08. . . g.20947
AACATCACATTGCTTCCAGCCACCGCGGCTACCACCT | TCACCGTGACCCCCTCGGGACAG c.1020
N I T L L P A T A A T T F | T V T P S G Q p.340
. . . . . . g.21007
ATCACGACCTCGGGGGCACTGACCTTTGACCGAGCGTCCACGGTAGAGGCCACTGCTGTC c.1080
I T T S G A L T F D R A S T V E A T A V p.360
. . . . | 09 . . g.21932
ATATCAGAGAGTCCGGCCCAGGGCGACGTCTTCGCAGGGGCCACAG | TCCAAGAGGCCAGC c.1140
I S E S P A Q G D V F A G A T V | Q E A S p.380
. . . . . . g.21992
GTGCAGCCCCCATGCAGGGCCAGCCACCCTGAGCCTCACTACCCCGGCTATCAGGACAGC c.1200
V Q P P C R A S H P E P H Y P G Y Q D S p.400
. . . . . | 10 . g.25962
TGCCAGATCGCACCGTTTCCAGAAGCTGCGTTGCCAACGTCACATCCCAAAATAG | TGTTG c.1260
C Q I A P F P E A A L P T S H P K I V | L p.420
. . . . . . g.26022
ACATCCCTGCCTGCGCTGGCGGTCCCACCCCCGACTCCCACCAAAGCGGCACCTCCCGCG c.1320
T S L P A L A V P P P T P T K A A P P A p.440
. . . . . . g.26082
TTGGTCAATGGGCTGGAGCTGTCAGAGCCGCGGAGCTGGCTGTACCTAGAAGAGATGGTC c.1380
L V N G L E L S E P R S W L Y L E E M V p.460
. . . . . . g.26142
AACTCCTTGCTCAACACAGCGCAGCAGCTGAAGACGCTGTTTGAGCAAGCCAAGCATGCC c.1440
N S L L N T A Q Q L K T L F E Q A K H A p.480
. . . . . . g.26202
AGCACCTACCGAGAAGCTGCCACAAACCAGGCCAAGATCCACGCTGACGCAGAGCGGAAG c.1500
S T Y R E A A T N Q A K I H A D A E R K p.500
| 11 . . . . . . g.46746
GAG | CAGTCCTGCGTTAACTGCGGCCGGGAGGCTATGAGCGAGTGCACCGGCTGCCACAAG c.1560
E | Q S C V N C G R E A M S E C T G C H K p.520
. . . | 12 . . . g.56113
GTCAACTACTGCTCCACCTTCTGCCAACGCAAG | GACTGGAAGGATCACCAGCACATATGC c.1620
V N Y C S T F C Q R K | D W K D H Q H I C p.540
. . . . . . g.56173
GGCCAGTCAGCAGCTGTCACCGTCCAGGCAGACGAAGTCCACGTGGCTGAAAGCGTGATG c.1680
G Q S A A V T V Q A D E V H V A E S V M p.560
. g.56191
GAGAAGGTGACCGTGTGA c.1698
E K V T V X p.565
. . . . . . g.56251
ggctccatcggccgccctgggagctggggcccctcgcactcctgtgaggcttttgcaggt c.*60
. . . . . . g.56311
cgaaggcccccctgaggactctggggggacgttgagaagaggggtgtgggaaggtaaaga c.*120
. . . . . . g.56371
aacttgctggacaagtcattaacacactttaagcgaatggtgccctgggaagcgcactcc c.*180
. . . . . . g.56431
ccctgcccgggccccctgcccgctcgcggacagattttttatccctgggatcatgagcgt c.*240
. . . . . . g.56491
ccggtcttgcccacagggcctgtgctgcgacgcacatacatacgtgttgtgtctgtcaat c.*300
. . g.56516
aaagtgtaaataaggtctccctgcc c.*325
(downstream sequence)
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